### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCN9A) # 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}}" "SCN9A" "sodium channel, voltage-gated, type IX, alpha subunit" "2" "q24" "unknown" "NG_012798.1" "UD_128895842654" "" "https://www.LOVD.nl/SCN9A" "" "1" "10597" "6335" "603415" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/SCN9A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2018-02-02 09:18:25" "00006" "2025-11-07 10:24:07" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018525" "SCN9A" "sodium channel, voltage-gated, type IX, alpha subunit" "001" "NM_002977.3" "" "NP_002968.1" "" "" "" "-341" "9421" "5934" "167232497" "167051695" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "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" "01321" "-" "erythromelalgia, primary" "AD" "133020" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01487" "PEXPD" "pain disorder, paroxysmal, extreme (PEXPD)" "AD" "167400" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01872" "CIP;HSAN2D" "pain, indifference, congenital, autosomal recessive (CIP)" "AR" "243000" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2023-01-10 16:00:14" "03473" "GEFSP7" "epilepsy, generalized, with febrile seizures plus, type 7 (GEFSP-7)" "AD" "613863" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04167" "SCA" "ataxia, spinocerebellar (SCA)" "" "" "" "" "" "00006" "2014-12-24 11:54:32" "00006" "2015-12-08 23:59:30" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05122" "HSN" "neuropathy, sensory, hereditary (HSN)" "" "" "" "" "" "00006" "2016-01-24 01:36:12" "00006" "2020-04-22 19:42:45" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" "05383" "HSAN" "neuropathy, sensory and autonomic, hereditary (HSAN)" "" "" "" "" "" "00006" "2018-01-27 17:13:02" "" "" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SCN9A" "01321" "SCN9A" "01487" "SCN9A" "01872" "SCN9A" "03473" ## Individuals ## Do not remove or alter this header ## ## Count = 161 "{{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}}" "00016328" "" "" "" "1" "" "00681" "" "" "M" "no" "Italy" "" "0" "" "" "" "" "00036956" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036957" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036958" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036959" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036960" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036961" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036962" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036963" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036964" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036965" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036966" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036967" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036968" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036969" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036970" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036971" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036972" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036973" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036974" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036975" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036976" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036977" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036978" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036979" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036980" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036981" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036982" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036983" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036984" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036985" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036986" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036987" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036988" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036989" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036990" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036991" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036992" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036993" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036994" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036995" "" "" "" "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" "" "" "" "00080860" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00116808" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_11:0/1:CONTROL" "00116859" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_207:0/1:CONTROL" "00116865" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_226:0/1:CONTROL" "00116893" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_292:0/1:CONTROL" "00116896" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_295:0/1:CONTROL" "00116904" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_311:0/1:CONTROL" "00116905" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_315:0/1:CONTROL" "00116941" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_408:0/1:CONTROL" "00116963" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_461:0/1:CONTROL" "00116976" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_49:0/1:CONTROL" "00116987" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_506:0/1:CONTROL" "00116999" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_526:0/1:CONTROL" "00117001" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_528:0/1:CONTROL" "00117028" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_580:0/1:TYPICAL_RE" "00117060" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_635:0/1:TYPICAL_RE" "00117083" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_692:0/1:TYPICAL_RE" "00117096" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_723:0/1:TYPICAL_RE" "00117100" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_728:0/1:TYPICAL_RE" "00117112" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_752:0/1:ATYPICAL_RE" "00152047" "" "" "" "1" "" "02384" "{PMID:Drenth 2005:15955112}" "" "M" "" "United States" "" "0" "" "" "white" "" "00152048" "" "" "" "1" "" "02384" "{PMID:Drenth 2005:15955112}" "" "M" "" "United States" "" "0" "" "" "white" "" "00152049" "" "" "" "1" "" "02384" "Lossin, unpublished data" "" "M" "" "United States" "" "0" "" "" "white" "" "00152050" "" "" "" "1" "" "02384" "Lossin, unpublished data" "" "M" "" "United States" "" "0" "" "" "white" "" "00152051" "" "" "" "1" "" "02384" "Lossin, unpublished data" "" "M" "" "United States" "" "0" "" "" "white" "" "00152052" "" "" "" "1" "" "02384" "Lossin, unpublished data" "" "M" "" "United States" "" "0" "" "" "white" "" "00152054" "" "" "" "1" "" "02384" "Lossin, unpublished data" "" "M" "" "United States" "" "0" "" "" "white" "" "00152055" "" "" "" "1" "" "02384" "Lossin, unpublished data" "" "M" "" "United States" "" "0" "" "" "white" "" "00152056" "" "" "" "1" "" "02384" "Lossin, unpublished data" "" "M" "" "United States" "" "0" "" "" "white" "" "00152058" "" "" "" "1" "" "02384" "{PMID:Yang 2004:14985375}" "" "" "" "" "" "0" "" "" "" "" "00152059" "" "" "" "1" "" "02384" "{PMID:Yang 2004:14985375}" "" "" "" "" "" "0" "" "" "" "" "00152060" "" "" "" "1" "" "02384" "{PMID:Drenth 2005:15955112}" "" "" "" "" "" "0" "" "" "" "" "00152061" "" "" "" "1" "" "02384" "{PMID:Drenth 2005:15955112}" "" "" "" "" "" "0" "" "" "" "" "00152062" "" "" "" "1" "" "02384" "{PMID:Drenth 2005:15955112}" "" "" "" "" "" "0" "" "" "" "" "00152063" "" "" "" "1" "" "02384" "{PMID:Drenth 2005:15955112}" "" "" "" "" "" "0" "" "" "" "" "00152064" "" "" "" "1" "" "02384" "{PMID:Drenth 2005:15955112}" "" "" "" "" "" "0" "" "" "" "" "00152065" "" "" "" "1" "" "02384" "{PMID:Drenth 2005:15955112}" "" "" "" "" "" "0" "" "" "" "" "00152066" "" "" "" "1" "" "02384" "{PMID:Drenth 2005:15955112}" "" "" "" "" "" "0" "" "" "" "" "00152067" "" "" "" "1" "" "02384" "{PMID:Drenth 2005:15955112}" "" "" "" "" "" "0" "" "" "" "" "00152068" "" "" "" "1" "" "02384" "{PMID:Dib-Hajj 2005:15958509}" "" "" "" "" "" "0" "" "" "" "" "00152069" "" "" "" "1" "" "02384" "{PMID:Lampert 2006:17008310}" "" "" "" "" "" "0" "" "" "" "" "00152070" "" "" "" "1" "" "02384" "{PMID:Harty 2006:17135418}" "" "" "" "" "" "0" "" "" "" "" "00152071" "" "" "" "1" "" "02384" "{PMID:Fertleman 2006:17145499}" "" "" "" "" "" "0" "" "" "" "" "00152072" "" "" "" "1" "" "02384" "{PMID:Fertleman 2006:17145499}" "" "" "" "" "" "0" "" "" "" "" "00152073" "" "" "" "1" "" "02384" "{PMID:Fertleman 2006:17145499}" "" "" "" "" "" "0" "" "" "" "" "00152074" "" "" "" "1" "" "02384" "{PMID:Fertleman 2006:17145499}" "" "" "" "" "" "0" "" "" "" "" "00152075" "" "" "" "1" "" "02384" "{PMID:Cox 2006:17167479}" "" "" "" "" "" "0" "" "" "" "" "00152076" "" "" "" "1" "" "02384" "{PMID:Cox 2006:17167479}" "" "" "" "" "" "0" "" "" "" "" "00152077" "" "" "" "1" "" "02384" "{PMID:Cox 2006:17167479}" "" "" "" "" "" "0" "" "" "" "" "00152078" "" "" "" "1" "" "02384" "{PMID:Cox 2006:17167479}" "" "" "" "" "" "0" "" "" "" "" "00152079" "" "" "" "1" "" "02384" "{PMID:Cox 2006:17167479}" "" "" "" "" "" "0" "" "" "" "" "00152080" "" "" "" "1" "" "02384" "{PMID:Goldberg 2007:17470132}" "" "" "" "" "" "0" "" "" "" "" "00152081" "" "" "" "1" "" "02384" "{PMID:Goldberg 2007:17470132}" "" "" "" "" "" "0" "" "" "" "" "00152082" "" "" "" "1" "" "02384" "{PMID:Jarecki 2008:18599537}" "" "" "" "" "" "0" "" "" "" "" "00152083" "" "" "" "1" "" "02384" "{PMID:Jarecki 2008:18599537}" "" "" "" "" "" "0" "" "" "" "" "00152084" "" "" "" "1" "" "02384" "{PMID:Cheng 2008:18826595}" "" "" "" "" "" "0" "" "" "" "" "00152085" "" "" "" "1" "" "02384" "{PMID:Estacion 2008:18945915}" "" "" "" "" "" "0" "" "" "" "" "00152086" "" "" "" "1" "" "02384" "{PMID:Choi 2009:19162012}" "" "" "" "" "" "0" "" "" "" "" "00152087" "" "" "" "1" "" "02384" "{PMID:Nilsen 2009:19304393}" "" "" "" "" "" "0" "" "" "" "" "00152088" "" "" "" "1" "" "02384" "{PMID:Nilsen 2009:19304393}" "" "" "" "" "" "0" "" "" "" "" "00152089" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152090" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152091" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152092" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152093" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152094" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152095" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152096" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152097" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152098" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152099" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152100" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152101" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152102" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152103" "" "" "" "1" "" "02384" "{PMID:Singh 2009:19763161}" "" "" "" "" "" "0" "" "" "" "" "00152104" "" "" "" "1" "" "02384" "{PMID:Hisama 2006.:20301342}" "" "" "" "" "" "0" "" "" "" "" "00152105" "" "" "" "1" "" "02384" "{PMID:Hisama 2006.:20301342}" "" "" "" "" "" "0" "" "" "" "" "00152106" "" "" "" "1" "" "02384" "{PMID:Hisama 2006.:20301342}" "" "" "" "" "" "0" "" "" "" "" "00152107" "" "" "" "1" "" "02384" "{PMID:Choi 2010:20478850}" "" "" "" "" "" "0" "" "" "" "" "00152116" "" "" "" "1" "" "02384" "{PMID:Goldberg 2007:17470132}" "" "" "" "Italy" "" "0" "" "" "" "" "00152117" "" "" "" "1" "" "02384" "{PMID:Goldberg 2007:17470132}" "" "" "" "United States" "" "0" "" "" "" "" "00152118" "" "" "" "1" "" "02384" "{PMID:Goldberg 2007:17470132}" "" "" "" "Argentina" "" "0" "" "" "" "" "00152119" "" "" "" "1" "" "02384" "{PMID:Goldberg 2007:17470132}" "" "" "" "United States" "" "0" "" "" "" "" "00152120" "" "" "" "1" "" "02384" "{PMID:Hoeijmakers 2012:22286749}" "" "" "" "" "" "0" "" "" "" "" "00155016" "" "" "" "1" "" "02402" "{PMID:Danziger 2006:16799175}" "patient 1 (YA) in table 1" "F" "yes" "France" ">44y" "0" "" "" "" "1 (YA)" "00210167" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00219045" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat55" "00269489" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}, {PMID:Happ 2023:36307226}" "1 affected, parents not available" "M" "" "Italy" "" "0" "" "" "" "patient;Pat10" "00276032" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00292336" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292337" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292338" "" "" "" "57" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292339" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292340" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292341" "" "" "" "60" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292342" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292343" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300025" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300026" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SCN9A-a" "00300094" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300126" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SCN9A-b" "00304706" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304707" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308694" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00327620" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00374429" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3192" "00374628" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4317" "00374845" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5836" "00414424" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP91" "00414425" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP92" "00414426" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP93" "00414427" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP94" "00415275" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "M" "" "" "" "0" "" "" "" "30" "00427801" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29314583}" "family, 1 affected, unaffected carrier father" "F" "" "China" "" "0" "" "" "" "Pat051" "00427810" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29314583}" "family, 1 affected, unaffected carrier father" "M" "" "China" "" "0" "" "" "" "Pat149" "00433683" "" "" "" "1" "" "04484" "" "" "" "" "Russia" "" "0" "" "" "" "patient" "00438333" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat51" "00438344" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat62" "00468042" "" "" "" "1" "" "00006" "{PMID:Shadrina 2016:26770814}" "4-generation family, 5 affected (5M)" "M" "" "Russia" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 123 "{{individualid}}" "{{diseaseid}}" "00016328" "00344" "00036958" "00198" "00036976" "00198" "00036983" "00198" "00036986" "00198" "00036989" "00198" "00050473" "00198" "00080860" "01872" "00116808" "00000" "00116859" "00000" "00116865" "00000" "00116893" "00000" "00116896" "00000" "00116904" "00000" "00116905" "00000" "00116941" "00000" "00116963" "00000" "00116976" "00000" "00116987" "00000" "00116999" "00000" "00117001" "00000" "00117028" "05315" "00117060" "05315" "00117083" "05315" "00117096" "05315" "00117100" "05315" "00117112" "05315" "00152047" "01321" "00152048" "01321" "00152049" "01321" "00152050" "01321" "00152051" "01321" "00152052" "01321" "00152054" "01321" "00152055" "01321" "00152056" "01321" "00152058" "01321" "00152059" "01321" "00152060" "01321" "00152061" "01321" "00152062" "01321" "00152063" "01321" "00152064" "01321" "00152065" "01321" "00152066" "01321" "00152067" "01321" "00152068" "01321" "00152069" "01321" "00152070" "01321" "00152071" "01321" "00152072" "01321" "00152073" "01321" "00152074" "01321" "00152075" "01872" "00152076" "01872" "00152077" "01872" "00152078" "01872" "00152079" "01872" "00152080" "01872" "00152081" "01872" "00152082" "01487" "00152083" "01487" "00152084" "01321" "00152085" "01321" "00152086" "01321" "00152087" "01872" "00152088" "01872" "00152089" "00353" "00152090" "00353" "00152091" "00353" "00152092" "00353" "00152093" "00353" "00152094" "00353" "00152095" "00353" "00152096" "00353" "00152097" "00353" "00152098" "00353" "00152099" "00353" "00152100" "00353" "00152101" "00353" "00152102" "00353" "00152103" "00353" "00152104" "01321" "00152107" "01321" "00152116" "01872" "00152117" "01872" "00152118" "01872" "00152119" "01872" "00152120" "00198" "00155016" "01872" "00219045" "05383" "00269489" "00344" "00276032" "00198" "00292336" "00198" "00292337" "00198" "00292338" "00198" "00292339" "00198" "00292340" "00198" "00292341" "00198" "00292342" "00198" "00292343" "00198" "00300025" "00199" "00300026" "05384" "00300094" "05122" "00300126" "05384" "00304706" "00198" "00304707" "00198" "00308694" "00000" "00327620" "00198" "00374429" "00198" "00374628" "00198" "00374845" "00198" "00414424" "00198" "00414425" "00198" "00414426" "00198" "00414427" "00198" "00415275" "04214" "00427801" "04270" "00427810" "04270" "00433683" "01872" "00438333" "04270" "00438344" "04270" "00468042" "04167" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00199, 00344, 00353, 01321, 01487, 01872, 03473, 04167, 04214, 04270, 05122, 05315, 05383, 05384 ## Count = 99 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000014941" "00344" "00016328" "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" "" "" "" "" "" "" "" "" "" "" "" "0000060429" "01872" "00080860" "01758" "Familial, autosomal recessive" "" "HSAN2D, autosomal recessive (OMIM:243000)" "" "" "" "" "" "" "" "" "" "" "" "0000092288" "05315" "00117112" "02192" "Unknown" "" "atypical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092299" "05315" "00117028" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092323" "05315" "00117060" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092345" "05315" "00117083" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092355" "05315" "00117096" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092359" "05315" "00117100" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000124393" "01321" "00152047" "02384" "Unknown" "" "pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124394" "01321" "00152048" "02384" "Unknown" "" "pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124395" "01321" "00152049" "02384" "Unknown" "" "pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124396" "01321" "00152050" "02384" "Unknown" "" "pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124397" "01321" "00152051" "02384" "Unknown" "" "pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124398" "01321" "00152052" "02384" "Unknown" "" "pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124400" "01321" "00152054" "02384" "Unknown" "" "pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124401" "01321" "00152055" "02384" "Unknown" "" "pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124402" "01321" "00152056" "02384" "Unknown" "" "pharmacoresistant bilateral redness and pain in extremities triggered by warmth or exercises, relief by rest or cooling; no other pathologies that could trigger symptoms secondarily" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124404" "01321" "00152058" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124405" "01321" "00152059" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124406" "01321" "00152060" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124407" "01321" "00152061" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124408" "01321" "00152062" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124409" "01321" "00152063" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124410" "01321" "00152064" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124411" "01321" "00152065" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124412" "01321" "00152066" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124413" "01321" "00152067" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "primary erythermalgia" "" "0000124414" "01321" "00152068" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "familial erythromelalgia" "" "0000124415" "01321" "00152069" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "erythermalgia" "" "0000124416" "01321" "00152070" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "erythermalgia" "" "0000124417" "01321" "00152071" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "PEPD" "erythermalgia" "" "0000124418" "01321" "00152072" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "PEPD" "erythermalgia" "" "0000124419" "01321" "00152073" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "PEPD" "erythermalgia" "" "0000124420" "01321" "00152074" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "PEPD" "erythermalgia" "" "0000124421" "01872" "00152075" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIP" "inability to experience pain" "" "0000124422" "01872" "00152076" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIP" "inability to experience pain" "" "0000124423" "01872" "00152077" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIP" "inability to experience pain" "" "0000124424" "01872" "00152078" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIP" "inability to experience pain" "" "0000124425" "01872" "00152079" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIP" "inability to experience pain" "" "0000124426" "01872" "00152080" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIP" "congenital indifference to pain" "" "0000124427" "01872" "00152081" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIP" "congenital indifference to pain" "" "0000124428" "01487" "00152082" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "PEPD" "paroxysmal extreme pain disorder (PEPD)" "" "0000124429" "01487" "00152083" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "PEPD" "paroxysmal extreme pain disorder (PEPD)" "" "0000124430" "01321" "00152084" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "erythermalgia" "" "0000124431" "01321" "00152085" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "paroxysmal extreme pain disorder (PEPD); erythromelalgia, primary" "" "0000124432" "01321" "00152086" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "mexiletine-responsive erythromelalgia" "" "0000124433" "01872" "00152087" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIP" "insensitivity to pain" "" "0000124434" "01872" "00152088" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIP" "insensitivity to pain" "" "0000124435" "00353" "00152089" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "seizure susceptibility" "" "0000124436" "00353" "00152090" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "Dravet syndrome" "" "0000124437" "00353" "00152091" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "Dravet syndrome" "" "0000124438" "00353" "00152092" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "Dravet syndrome" "" "0000124439" "00353" "00152093" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "Dravet syndrome" "" "0000124440" "00353" "00152094" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "SMEB-MA" "" "0000124441" "00353" "00152095" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "complex febrile seizures" "" "0000124442" "00353" "00152096" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "febrile seizures" "" "0000124443" "00353" "00152097" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "febrile seizures, GSW, IGW" "" "0000124444" "00353" "00152098" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "Dravet syndrome" "" "0000124445" "00353" "00152099" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "febrile seizures" "" "0000124446" "00353" "00152100" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "Dravet syndrome" "" "0000124447" "00353" "00152101" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "Dravet syndrome" "" "0000124448" "00353" "00152102" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "febrile seizures, IGE" "" "0000124449" "00353" "00152103" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "EiEE-6" "SMEB-MA" "" "0000124450" "01321" "00152104" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "erythermalgia" "" "0000124451" "01321" "00152107" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "erythermalgia" "" "0000124460" "01872" "00152116" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIP" "congenital indifference to pain" "" "0000124461" "01872" "00152117" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIP" "congenital indifference to pain" "" "0000124462" "01872" "00152118" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIP" "congenital indifference to pain" "" "0000124463" "01872" "00152119" "02384" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIP" "congenital indifference to pain" "" "0000124464" "00198" "00152120" "02384" "Familial" "" "pain, dysautonomia, acromesomelia, small nerve fibres, small hands, small feet" "" "" "" "" "" "" "" "" "" "?" "" "0000127741" "01872" "00155016" "02402" "Familial, autosomal recessive" "44y" "No pain feeling for wounds, burns, bone fractures, appendicitis, deliveries" "" "32y" "Congenital insensitive to pain" "" "" "" "" "" "CIP" "CIP" "" "0000156779" "00198" "00036958" "01164" "Unknown" "" "small fiber Neuropathie" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000156780" "00198" "00036976" "01164" "Unknown" "" "suspected neuropathy" "" "" "" "" "" "" "" "" "" "neuropathy?" "" "0000156781" "00198" "00036983" "01164" "Unknown" "" "clinical signs of C-fiber neuropathy" "" "" "" "" "" "" "" "" "" "leiomyomatosis" "" "0000156782" "00198" "00036986" "01164" "Unknown" "" "clinical signs of C-fiber neuropathy" "" "" "" "" "" "" "" "" "" "leiomyomatosis" "" "0000156783" "00198" "00036989" "01164" "Unknown" "" "clinical signs of C-fiber neuropathy" "" "" "" "" "" "" "" "" "" "leiomyomatosis" "" "0000158740" "00198" "00210167" "01164" "Unknown" "" "HP:0001260 (Dysarthria); HP:0001265 (Hyporeflexia); HP:0001279 (Syncope); HP:0000505 (Visual impairment); HP:0011025 (Abnormality of cardiovascular system physiology); HP:0012373 (Abnormal eye physiology); HP:0002167 (Neurological speech impairment); HP:0012638 (Abnormality of nervous system physiology); HP:0002315 (Headache); HP:0012443 (Abnormality of brain morphology); HP:0001250 (Seizures); HP:0001251 (Ataxia)" "" "" "" "" "" "" "" "" "" "" "" "0000167602" "05383" "00219045" "00006" "Unknown" "" "HSAN2D, CIP, Small fiber neuropathy" "" "" "" "" "" "" "" "" "HSAN-2D" "hereditary sensory and autonomic neuropathy" "" "0000207316" "00344" "00269489" "03512" "Unknown" "61y" "see paper; ...; developmental and epileptic encephalopathy; <1y-tonic-clonic seizure; 8y-seizure offset; global developmental delay, no regression; mild intellectual disability, sentences, ambulatory, self-feeds; MRIbrain 52y/53y-multiple nonenhancing white matter abnormalities, arachnoid cyst, mineral deposits in the orbit; epileptic encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "DEE112" "" "" "0000210588" "00198" "00276032" "01807" "Unknown" "" "Pain insensitivity (HP:0007021)" "" "" "" "" "" "" "" "" "" "" "" "0000227346" "00199" "00300025" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227347" "05384" "00300026" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "complex inherited peripheral neuropathy" "" "0000227415" "05122" "00300094" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hereditary sensory neuropathy" "" "0000227447" "05384" "00300126" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "complex inherited peripheral neuropathy" "" "0000245865" "00198" "00327620" "01807" "Unknown" "" "Polyneuropathy (HP:0001271)" "" "" "" "" "" "" "" "" "" "" "" "0000269639" "00198" "00374429" "00006" "Familial, X-linked" "" "Global developmental delay, congenital cataract, hypotonia, umbilical hernia, failure to thrive, vitamin D deficiency and seizures" "" "" "" "" "" "" "" "" "" "epilepsy, neuropathy" "" "0000269838" "00198" "00374628" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, ataxia" "" "0000270055" "00198" "00374845" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, ataxia" "" "0000306259" "00198" "00414424" "00000" "Familial, autosomal recessive" "3y" "" "" "" "" "" "" "" "" "" "Congenital Insensitivity to Pain" "" "" "0000306260" "00198" "00414425" "00000" "Familial, autosomal recessive" "7y" "" "" "" "" "" "" "" "" "" "Congenital Insensitivity to Pain" "" "" "0000306261" "00198" "00414426" "00000" "Familial, autosomal recessive" "2y" "" "" "" "" "" "" "" "" "" "Congenital Insensitivity to Pain" "" "" "0000306262" "00198" "00414427" "00000" "Familial, autosomal recessive" "8y" "" "" "" "" "" "" "" "" "" "Congenital Insensitivity to Pain" "" "" "0000307073" "04214" "00415275" "00000" "Familial, autosomal recessive" "" "OMIM: 243000; painless injuries, eczema, and generalized abnormal ulcers" "" "" "" "" "" "" "" "" "Hereditary sensory neuropathy type IID" "" "" "0000318775" "04270" "00427801" "00006" "Unknown" "4y" "intellectual disability; tonic seizure, atypical absence, spasms, myoclonic, frequency 5-6/d; EEG burst of fast activity, multifocal discharges; MRI brain normal; resistant to antiepileptic drugs" "8m" "" "" "" "" "" "" "" "" "Lennox-Gastaut syndrome" "" "0000318784" "04270" "00427810" "00006" "Unknown" "2y" "intellectual disability; generalized tonic-clonic seizure, complex partial seizure, frequency 10/d; EEG multifocal discharges; MRI brain slight atrophy; remitted to antiepileptic drugs" "1m" "" "" "" "" "" "" "" "" "unclassified epileptic encephalopathy" "" "0000328237" "04270" "00438333" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "14y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328248" "04270" "00438344" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "3m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000353194" "04167" "00468042" "00006" "Familial, autosomal dominant" "" "see paper; ..., mild" "" "" "" "" "" "" "" "" "SCA29" "spinocerebellar ataxia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 161 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016257" "00016328" "1" "00681" "00681" "2014-03-12 14:43:36" "00006" "2014-03-14 16:47:07" "SEQ;SEQ-NG-I" "DNA" "" "" "0000037026" "00036956" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037027" "00036957" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037028" "00036958" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037029" "00036959" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037030" "00036960" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037031" "00036961" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037032" "00036962" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037033" "00036963" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037034" "00036964" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037035" "00036965" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037036" "00036966" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037037" "00036967" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037038" "00036968" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037039" "00036969" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037040" "00036970" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037041" "00036971" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037042" "00036972" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037043" "00036973" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037044" "00036974" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037045" "00036975" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037046" "00036976" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037047" "00036977" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037048" "00036978" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037049" "00036979" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037050" "00036980" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037051" "00036981" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037052" "00036982" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037053" "00036983" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037054" "00036984" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037055" "00036985" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037056" "00036986" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037057" "00036987" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037058" "00036988" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037059" "00036989" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037060" "00036990" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037061" "00036991" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037062" "00036992" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037063" "00036993" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037064" "00036994" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037065" "00036995" "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" "" "" "0000080972" "00080860" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000117270" "00117112" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117276" "00116808" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117327" "00116859" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117333" "00116865" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117361" "00116893" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117364" "00116896" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117372" "00116904" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117373" "00116905" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117409" "00116941" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117431" "00116963" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117444" "00116976" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117455" "00116987" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117467" "00116999" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117469" "00117001" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117510" "00117028" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117534" "00117060" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117556" "00117083" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117566" "00117096" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117570" "00117100" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000152904" "00152047" "1" "02384" "02384" "2010-11-12 00:07:00" "02384" "2010-11-12 00:42:00" "SEQ" "DNA" "" "" "0000152905" "00152048" "1" "02384" "02384" "2010-11-12 00:07:00" "02384" "2010-11-12 00:42:00" "SEQ" "DNA" "" "" "0000152906" "00152049" "1" "02384" "02384" "2010-11-12 00:07:00" "02384" "2010-11-12 00:42:00" "SEQ" "DNA" "" "" "0000152907" "00152050" "1" "02384" "02384" "2010-11-12 00:07:00" "02384" "2010-11-12 00:42:00" "SEQ" "DNA" "" "" "0000152908" "00152051" "1" "02384" "02384" "2010-11-12 00:07:00" "02384" "2010-11-12 00:42:00" "SEQ" "DNA" "" "" "0000152909" "00152052" "1" "02384" "02384" "2010-11-12 00:07:00" "02384" "2010-11-12 00:42:00" "SEQ" "DNA" "" "" "0000152911" "00152054" "1" "02384" "02384" "2010-11-12 00:07:00" "02384" "2010-11-12 00:42:00" "SEQ" "DNA" "" "" "0000152912" "00152055" "1" "02384" "02384" "2010-11-12 00:07:00" "02384" "2010-11-12 00:42:00" "SEQ" "DNA" "" "" "0000152913" "00152056" "1" "02384" "02384" "2010-11-12 00:07:00" "02384" "2010-11-12 00:42:00" "SEQ" "DNA" "" "" "0000152915" "00152058" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152916" "00152059" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152917" "00152060" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152918" "00152061" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152919" "00152062" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152920" "00152063" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152921" "00152064" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152922" "00152065" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152923" "00152066" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152924" "00152067" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152925" "00152068" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152926" "00152069" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152927" "00152070" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152928" "00152071" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152929" "00152072" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152930" "00152073" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152931" "00152074" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152932" "00152075" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152933" "00152076" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152934" "00152077" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152935" "00152078" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152936" "00152079" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152937" "00152080" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152938" "00152081" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152939" "00152082" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152940" "00152083" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152941" "00152084" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152942" "00152085" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152943" "00152086" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152944" "00152087" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152945" "00152088" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152946" "00152089" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152947" "00152090" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152948" "00152091" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152949" "00152092" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152950" "00152093" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152951" "00152094" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152952" "00152095" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152953" "00152096" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152954" "00152097" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152955" "00152098" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152956" "00152099" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152957" "00152100" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152958" "00152101" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152959" "00152102" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152960" "00152103" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152961" "00152104" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152962" "00152105" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152963" "00152106" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152964" "00152107" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "2011-10-21 17:00:00" "SEQ" "DNA" "" "" "0000152973" "00152116" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "0000-00-00 00:00:00" "SEQ" "DNA" "" "" "0000152974" "00152117" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "0000-00-00 00:00:00" "SEQ" "DNA" "" "" "0000152975" "00152118" "1" "02384" "02384" "2011-08-14 02:10:00" "02384" "0000-00-00 00:00:00" "SEQ" "DNA" "" "" "0000152976" "00152119" "1" "02384" "02384" "2011-06-00 08:06:00" "02384" "2011-06-00 08:06:00" "SEQ" "DNA" "" "" "0000152977" "00152120" "1" "02384" "02384" "2012-02-08 15:10:00" "02384" "2012-02-08 15:10:00" "SEQ" "DNA" "" "" "0000155879" "00155016" "1" "02402" "02402" "2018-03-09 16:12:18" "" "" "SEQ-NG" "DNA" "whole blood" "" "0000211243" "00210167" "1" "01164" "01164" "2018-12-27 15:47:16" "" "" "SEQ-NG" "DNA" "" "" "0000220117" "00219045" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000270643" "00269489" "1" "03512" "03512" "2019-11-28 18:05:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000277179" "00276032" "1" "01807" "01807" "2020-01-24 11:02:26" "" "" "SEQ" "DNA" "" "" "0000293504" "00292336" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293505" "00292337" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293506" "00292338" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293507" "00292339" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293508" "00292340" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293509" "00292341" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293510" "00292342" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293511" "00292343" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301141" "00300025" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301142" "00300026" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301210" "00300094" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301242" "00300126" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000305835" "00304706" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305836" "00304707" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309839" "00308694" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000328834" "00327620" "1" "01807" "01807" "2021-01-25 10:37:58" "00001" "2021-01-25 10:38:43" "SEQ" "DNA" "" "" "0000375623" "00374429" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375822" "00374628" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376039" "00374845" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000415704" "00414424" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415705" "00414425" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415706" "00414426" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415707" "00414427" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000416557" "00415275" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" "0000429124" "00427801" "1" "00006" "00006" "2022-12-13 13:20:24" "" "" "SEQ;SEQ-NG" "DNA" "" "target gene panel" "0000429133" "00427810" "1" "00006" "00006" "2022-12-13 13:20:24" "" "" "SEQ;SEQ-NG" "DNA" "" "target gene panel" "0000435141" "00433683" "1" "04484" "04484" "2023-03-13 14:56:01" "" "" "SEQ-NG" "DNA" "Fibroblasts" "" "0000439815" "00438333" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439826" "00438344" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469708" "00468042" "1" "00006" "00006" "2025-11-07 10:18:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 121 "{{screeningid}}" "{{geneid}}" "0000016257" "SCN9A" "0000037026" "SCN9A" "0000037027" "SCN9A" "0000037028" "SCN9A" "0000037029" "SCN9A" "0000037030" "SCN9A" "0000037031" "SCN9A" "0000037032" "SCN9A" "0000037033" "SCN9A" "0000037034" "SCN9A" "0000037035" "SCN9A" "0000037036" "SCN9A" "0000037037" "SCN9A" "0000037038" "SCN9A" "0000037039" "SCN9A" "0000037040" "SCN9A" "0000037041" "SCN9A" "0000037042" "SCN9A" "0000037043" "SCN9A" "0000037044" "SCN9A" "0000037045" "SCN9A" "0000037046" "SCN9A" "0000037047" "SCN9A" "0000037048" "SCN9A" "0000037049" "SCN9A" "0000037050" "SCN9A" "0000037051" "SCN9A" "0000037052" "SCN9A" "0000037053" "SCN9A" "0000037054" "SCN9A" "0000037055" "SCN9A" "0000037056" "SCN9A" "0000037057" "SCN9A" "0000037058" "SCN9A" "0000037059" "SCN9A" "0000037060" "SCN9A" "0000037061" "SCN9A" "0000037062" "SCN9A" "0000037063" "SCN9A" "0000037064" "SCN9A" "0000037065" "SCN9A" "0000080972" "SCN9A" "0000152904" "SCN9A" "0000152905" "SCN9A" "0000152906" "SCN9A" "0000152907" "SCN9A" "0000152908" "SCN9A" "0000152909" "SCN9A" "0000152911" "SCN9A" "0000152912" "SCN9A" "0000152913" "SCN9A" "0000152915" "SCN9A" "0000152916" "SCN9A" "0000152917" "SCN9A" "0000152918" "SCN9A" "0000152919" "SCN9A" "0000152920" "SCN9A" "0000152921" "SCN9A" "0000152922" "SCN9A" "0000152923" "SCN9A" "0000152924" "SCN9A" "0000152925" "SCN9A" "0000152926" "SCN9A" "0000152927" "SCN9A" "0000152928" "SCN9A" "0000152929" "SCN9A" "0000152930" "SCN9A" "0000152931" "SCN9A" "0000152932" "SCN9A" "0000152933" "SCN9A" "0000152934" "SCN9A" "0000152935" "SCN9A" "0000152936" "SCN9A" "0000152937" "SCN9A" "0000152938" "SCN9A" "0000152939" "SCN9A" "0000152940" "SCN9A" "0000152941" "SCN9A" "0000152942" "SCN9A" "0000152943" "SCN9A" "0000152944" "SCN9A" "0000152945" "SCN9A" "0000152946" "SCN9A" "0000152947" "SCN9A" "0000152948" "SCN9A" "0000152949" "SCN9A" "0000152950" "SCN9A" "0000152951" "SCN9A" "0000152952" "SCN9A" "0000152953" "SCN9A" "0000152954" "SCN9A" "0000152955" "SCN9A" "0000152956" "SCN9A" "0000152957" "SCN9A" "0000152958" "SCN9A" "0000152959" "SCN9A" "0000152960" "SCN9A" "0000152961" "SCN9A" "0000152962" "SCN9A" "0000152963" "SCN9A" "0000152964" "SCN9A" "0000152973" "SCN9A" "0000152974" "SCN9A" "0000152975" "SCN9A" "0000152976" "SCN9A" "0000152977" "SCN9A" "0000220117" "SCN9A" "0000301141" "SCN9A" "0000301142" "SCN9A" "0000301210" "SCN9A" "0000301242" "SCN9A" "0000309839" "SCN9A" "0000375623" "OCRL" "0000375822" "SCN9A" "0000376039" "SCN9A" "0000415704" "SCN9A" "0000415705" "SCN9A" "0000415706" "SCN9A" "0000415707" "SCN9A" "0000416557" "SCN9A" "0000435141" "SCN9A" ## 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 = 533 "{{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}}" "0000036004" "21" "55" "2" "167089942" "167089942" "subst" "0.00116983" "00681" "SCN9A_000155" "g.167089942G>C" "" "{PMID:Della Mina et al 2014:Submitted}" "" "" "" "Germline" "?" "" "0" "" "" "g.166233432G>C" "" "VUS" "" "0000064151" "1" "10" "2" "167108385" "167108385" "subst" "0.0205695" "01164" "SCN9A_000165" "g.167108385C>T" "" "" "" "" "" "Germline" "" "rs74401238" "0" "" "" "g.166251875C>T" "" "benign" "" "0000064152" "1" "10" "2" "167140955" "167140955" "subst" "0.103226" "01164" "SCN9A_000155" "g.167140955G>A" "" "" "" "" "" "Germline" "" "rs7608201" "0" "" "" "g.166284445G>A" "" "benign" "" "0000064153" "1" "90" "2" "167089942" "167089942" "subst" "0.00116983" "01164" "SCN9A_000155" "g.167089942G>C" "" "" "" "" "" "Germline" "" "rs180922748" "0" "" "" "g.166233432G>C" "" "pathogenic" "" "0000064154" "1" "10" "2" "167141109" "167141109" "subst" "0.0241216" "01164" "SCN9A_000030" "g.167141109G>T" "" "" "" "" "" "Germline" "" "rs41268673" "0" "" "" "g.166284599G>T" "" "benign" "" "0000064155" "1" "50" "2" "167085487" "167085487" "subst" "0" "01164" "SCN9A_000160" "g.167085487T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.166228977T>C" "" "VUS" "" "0000064156" "1" "10" "2" "167144974" "167144974" "subst" "0.493234" "01164" "SCN9A_000026" "g.167144974A>T" "" "" "" "" "" "Germline" "" "rs6747673" "0" "" "" "g.166288464A>T" "" "benign" "" "0000064157" "1" "10" "2" "167145142" "167145142" "subst" "0.367216" "01164" "SCN9A_000023" "g.167145142A>G" "" "" "" "" "" "Germline" "" "rs13414203" "0" "" "" "g.166288632A>G" "" "benign" "" "0000064158" "1" "10" "2" "167149693" "167149693" "subst" "0.645731" "01164" "SCN9A_000078" "g.167149693G>A" "" "" "" "" "" "Germline" "" "rs7588632" "0" "" "" "g.166293183G>A" "" "benign" "" "0000064159" "1" "10" "2" "167137119" "167137119" "subst" "0.493056" "01164" "SCN9A_000168" "g.167137119G>A" "" "" "" "" "" "Germline" "" "rs6432893" "0" "" "" "g.166280609G>A" "" "benign" "" "0000064160" "1" "10" "2" "167144995" "167144995" "subst" "0.367823" "01164" "SCN9A_000025" "g.167144995T>C" "" "" "" "" "" "Germline" "" "rs13402180" "0" "" "" "g.166288485T>C" "" "benign" "" "0000064161" "1" "10" "2" "167099158" "167099158" "subst" "0.879499" "01164" "SCN9A_000164" "g.167099158A>G" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs6746030" "0" "" "" "g.166242648A>G" "" "benign" "" "0000064162" "1" "10" "2" "167085142" "167085143" "del" "0" "01164" "SCN9A_000093" "g.167085142_167085143del" "" "" "" "" "" "Germline" "" "rs58519838" "0" "" "" "g.166228632_166228633del" "" "benign" "" "0000064163" "1" "10" "2" "167085124" "167085124" "subst" "0" "01164" "SCN9A_000092" "g.167085124T>G" "" "" "" "" "" "Germline" "" "rs10199799" "0" "" "" "g.166228614T>G" "" "benign" "" "0000064164" "1" "10" "2" "167085082" "167085083" "del" "0" "01164" "SCN9A_000091" "g.167085082_167085083del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.166228572_166228573del" "" "benign" "" "0000064165" "1" "10" "2" "167089976" "167089976" "subst" "0.0652962" "01164" "SCN9A_000161" "g.167089976T>C" "" "" "" "" "" "Germline" "" "rs75230218" "0" "" "" "g.166233466T>C" "" "benign" "" "0000064166" "1" "10" "2" "167084388" "167084389" "ins" "0" "01164" "SCN9A_000090" "g.167084388_167084389insT" "" "" "" "" "" "Germline" "" "rs723645542" "0" "" "" "g.166227878_166227879insT" "" "benign" "" "0000064167" "1" "10" "2" "167082978" "167082978" "subst" "0" "01164" "SCN9A_000089" "g.167082978T>C" "" "" "" "" "" "Germline" "" "rs7595255" "0" "" "" "g.166226468T>C" "" "benign" "" "0000064168" "1" "10" "2" "167060449" "167060449" "subst" "0.883024" "01164" "SCN9A_000085" "g.167060449A>T" "" "" "" "" "" "Germline" "" "rs10180721" "0" "" "" "g.166203939A>T" "" "benign" "" "0000064169" "1" "50" "2" "167142791" "167142791" "subst" "0" "01164" "SCN9A_000157" "g.167142791A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.166286281A>C" "" "VUS" "" "0000064170" "1" "50" "2" "167145120" "167145122" "del" "0" "01164" "SCN9A_000076" "g.167145120_167145122del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.166288610_166288612del" "" "VUS" "" "0000064171" "1" "50" "2" "167143100" "167143100" "subst" "5.7334E-5" "01164" "SCN9A_000158" "g.167143100T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.166286590T>C" "" "VUS" "" "0000064172" "1" "10" "2" "167137120" "167137120" "subst" "0.155644" "01164" "SCN9A_000005" "g.167137120C>T" "" "" "" "" "" "Germline" "" "rs4525717" "0" "" "" "g.166280610C>T" "" "benign" "" "0000064173" "1" "10" "2" "167056428" "167056428" "subst" "0" "01164" "SCN9A_000097" "g.167056428G>A" "" "" "" "" "" "Germline" "" "rs4303728" "0" "" "" "g.166199918G>A" "" "benign" "" "0000064174" "1" "50" "2" "167094844" "167094844" "dup" "0" "01164" "SCN9A_000163" "g.167094844dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.166238334dup" "" "VUS" "" "0000064175" "1" "50" "2" "167094638" "167094638" "subst" "0.00443507" "01164" "SCN9A_000162" "g.167094638T>C" "frequency <1%" "" "" "" "" "Germline" "" "rs141268327" "0" "" "" "g.166238128T>C" "" "VUS" "" "0000064176" "1" "90" "2" "167060594" "167060594" "subst" "0.00203265" "01164" "SCN9A_000086" "g.167060594A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.166204084A>G" "" "pathogenic" "" "0000064177" "1" "10" "2" "167160735" "167160735" "subst" "0.0479712" "01164" "SCN9A_000080" "g.167160735A>G" "" "" "" "" "" "Germline" "" "rs7444988" "0" "" "" "g.166304225A>G" "" "benign" "" "0000064178" "1" "10" "2" "167055393" "167055393" "subst" "0.0613848" "01164" "SCN9A_000098" "g.167055393T>C" "" "" "" "" "" "Germline" "" "rs3750904" "0" "" "" "g.166198883T>C" "" "benign" "" "0000064179" "1" "10" "2" "167149700" "167149700" "subst" "0.0588509" "01164" "SCN9A_000079" "g.167149700T>C" "" "" "" "" "" "Germline" "" "rs41268675" "0" "" "" "g.166293190T>C" "" "benign" "" "0000064180" "1" "10" "2" "167060988" "167060991" "del" "0" "01164" "SCN9A_000088" "g.167060988_167060991del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.166204478_166204481del" "" "benign" "" "0000064181" "1" "10" "2" "167129256" "167129256" "subst" "0.0329574" "01164" "SCN9A_000052" "g.167129256C>A" "" "" "" "" "" "Germline" "" "rs4369876" "0" "" "" "g.166272746C>A" "" "benign" "" "0000064182" "1" "50" "2" "167060658" "167060659" "ins" "0" "01164" "SCN9A_000087" "g.167060658_167060659insGAAC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.166204148_166204149insGAAC" "" "VUS" "" "0000064183" "1" "10" "2" "167163043" "167163043" "subst" "0.628383" "01164" "SCN9A_000009" "g.167163043T>C" "" "" "" "" "" "Germline" "" "rs964677" "0" "" "" "g.166306533T>C" "" "benign" "" "0000064184" "1" "10" "2" "167133540" "167133540" "subst" "0.0365148" "01164" "SCN9A_000167" "g.167133540T>G" "" "" "" "" "" "Germline" "" "rs12478318" "0" "" "" "g.166277030T>G" "" "benign" "" "0000064185" "1" "10" "2" "167056337" "167056337" "subst" "0.0616963" "01164" "SCN9A_000096" "g.167056337C>A" "" "" "" "" "" "Germline" "" "rs149207258" "0" "" "" "g.166199827C>A" "" "benign" "" "0000064186" "1" "10" "2" "167163663" "167163663" "subst" "0" "01164" "SCN9A_000094" "g.167163663C>T" "" "" "" "" "" "Germline" "" "rs4447616" "0" "" "" "g.166307153C>T" "" "benign" "" "0000064187" "1" "10" "2" "167163373" "167163373" "subst" "0" "01164" "SCN9A_000011" "g.167163373C>A" "" "" "" "" "" "Germline" "" "rs4443015" "0" "" "" "g.166306863C>A" "" "benign" "" "0000064188" "1" "10" "2" "167163372" "167163372" "subst" "0" "01164" "SCN9A_000001" "g.167163372T>C" "" "" "" "" "" "Germline" "" "rs58349687" "0" "" "" "g.166306862T>C" "" "benign" "" "0000064189" "1" "10" "2" "167162277" "167162277" "subst" "0.71216" "01164" "SCN9A_000003" "g.167162277G>A" "" "" "" "" "" "Germline" "" "rs4429487" "0" "" "" "g.166305767G>A" "" "benign" "" "0000064190" "1" "10" "2" "167168093" "167168093" "subst" "0.576119" "01164" "SCN9A_000008" "g.167168093C>T" "" "" "" "" "" "Germline" "" "rs6432901" "0" "" "" "g.166311583C>T" "" "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" "" "0000130058" "3" "70" "2" "167099103" "167099103" "subst" "0" "01758" "SCN9A_000099" "g.167099103C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.166242593C>T" "" "likely pathogenic" "ACMG" "0000188121" "0" "50" "2" "167163549" "167163549" "subst" "1.62817E-5" "02192" "SCN9A_000107" "g.167163549G>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs199824489" "0" "" "" "g.166307039G>T" "" "VUS" "" "0000188172" "0" "50" "2" "167129258" "167129258" "subst" "0.000622567" "02192" "SCN9A_000103" "g.167129258T>C" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs199692186" "0" "" "" "g.166272748T>C" "" "VUS" "" "0000188206" "0" "50" "2" "167089942" "167089942" "subst" "0.00116983" "02192" "SCN9A_000155" "g.167089942G>C" "5/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs180922748" "0" "" "" "g.166233432G>C" "" "VUS" "" "0000188209" "0" "50" "2" "167108327" "167108327" "subst" "1.63139E-5" "02192" "SCN9A_000100" "g.167108327T>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs201049193" "0" "" "" "g.166251817T>A" "" "VUS" "" "0000188289" "0" "50" "2" "167163574" "167163574" "subst" "0" "02192" "SCN9A_000108" "g.167163574A>G" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.166307064A>G" "" "VUS" "" "0000188300" "0" "50" "2" "167089942" "167089942" "subst" "0.00116983" "02192" "SCN9A_000155" "g.167089942G>C" "5/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs180922748" "0" "" "" "g.166233432G>C" "" "VUS" "" "0000188312" "0" "50" "2" "167089942" "167089942" "subst" "0.00116983" "02192" "SCN9A_000155" "g.167089942G>C" "5/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs180922748" "0" "" "" "g.166233432G>C" "" "VUS" "" "0000188341" "0" "50" "2" "167129258" "167129258" "subst" "0.000622567" "02192" "SCN9A_000103" "g.167129258T>C" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs199692186" "0" "" "" "g.166272748T>C" "" "VUS" "" "0000188396" "0" "50" "2" "167138314" "167138314" "subst" "5.6601E-5" "02192" "SCN9A_000104" "g.167138314G>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200965749" "0" "" "" "g.166281804G>A" "" "VUS" "" "0000188409" "0" "50" "2" "167128911" "167128911" "subst" "9.10983E-5" "02192" "SCN9A_000102" "g.167128911C>A" "2/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200817435" "0" "" "" "g.166272401C>A" "" "VUS" "" "0000188459" "0" "50" "2" "167108386" "167108386" "subst" "0.00364764" "02192" "SCN9A_000101" "g.167108386G>A" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs190664764" "0" "" "" "g.166251876G>A" "" "VUS" "" "0000188470" "0" "50" "2" "167142893" "167142893" "subst" "0.00045945" "02192" "SCN9A_000029" "g.167142893C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs187453572" "0" "" "" "g.166286383C>T" "" "VUS" "" "0000188471" "0" "50" "2" "167108386" "167108386" "subst" "0.00364764" "02192" "SCN9A_000101" "g.167108386G>A" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs190664764" "0" "" "" "g.166251876G>A" "" "VUS" "" "0000188480" "0" "50" "2" "167108386" "167108386" "subst" "0.00364764" "02192" "SCN9A_000101" "g.167108386G>A" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs190664764" "0" "" "" "g.166251876G>A" "" "VUS" "" "0000188485" "0" "50" "2" "167089942" "167089942" "subst" "0.00116983" "02192" "SCN9A_000155" "g.167089942G>C" "5/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs180922748" "0" "" "" "g.166233432G>C" "" "VUS" "" "0000188501" "0" "50" "2" "167089942" "167089942" "subst" "0.00116983" "02192" "SCN9A_000155" "g.167089942G>C" "5/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs180922748" "0" "" "" "g.166233432G>C" "" "VUS" "" "0000188530" "0" "50" "2" "167141091" "167141091" "subst" "6.91484E-5" "02192" "SCN9A_000031" "g.167141091C>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs201338643" "0" "" "" "g.166284581C>T" "" "VUS" "" "0000188541" "0" "50" "2" "167128911" "167128911" "subst" "9.10983E-5" "02192" "SCN9A_000102" "g.167128911C>A" "2/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200817435" "0" "" "" "g.166272401C>A" "" "VUS" "" "0000188548" "0" "50" "2" "167089942" "167089942" "subst" "0.00116983" "02192" "SCN9A_000155" "g.167089942G>C" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs180922748" "0" "" "" "g.166233432G>C" "" "VUS" "" "0000245734" "0" "10" "2" "167138330" "167138330" "del" "0" "02330" "SCN9A_000142" "g.167138330del" "" "" "" "SCN9A(NM_002977.3):c.1942-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166281820del" "" "benign" "" "0000245753" "0" "10" "2" "167060449" "167060449" "subst" "0.883024" "02330" "SCN9A_000085" "g.167060449A>T" "" "" "" "SCN1A-AS1(NR_110260.1):n.611+4121A>T, SCN9A(NM_002977.3):c.4741+16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166203939A>T" "" "benign" "" "0000245874" "0" "10" "2" "167060594" "167060594" "subst" "0.00203265" "02330" "SCN9A_000086" "g.167060594A>G" "" "" "" "SCN9A(NM_002977.3):c.4612T>C (p.W1538R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166204084A>G" "" "benign" "" "0000245883" "0" "10" "2" "167099158" "167099158" "subst" "0.879499" "02330" "SCN9A_000164" "g.167099158A>G" "" "" "" "SCN1A-AS1(NR_110260.1):n.612-5547A>G, SCN9A(NM_002977.3):c.3448T>C (p.W1150R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000245884" "0" "10" "2" "167144974" "167144974" "subst" "0.493234" "02330" "SCN9A_000026" "g.167144974A>T" "" "" "" "SCN1A-AS1(NR_110260.1):n.1030-6101A>T, SCN9A(NM_002977.3):c.1287T>A (p.R429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166288464A>T" "" "benign" "" "0000245885" "0" "10" "2" "167145142" "167145142" "subst" "0.367216" "02330" "SCN9A_000023" "g.167145142A>G" "" "" "" "SCN1A-AS1(NR_110260.1):n.1030-5933A>G, SCN9A(NM_002977.3):c.1119T>C (p.A373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166288632A>G" "" "benign" "" "0000245953" "0" "30" "2" "167168138" "167168138" "subst" "0.000402168" "02330" "SCN9A_000170" "g.167168138A>G" "" "" "" "SCN9A(NM_002977.3):c.129T>C (p.D43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166311628A>G" "" "likely benign" "" "0000248354" "0" "10" "2" "167144974" "167144974" "subst" "0.493234" "02325" "SCN9A_000026" "g.167144974A>T" "" "" "" "SCN1A-AS1(NR_110260.1):n.1030-6101A>T, SCN9A(NM_002977.3):c.1287T>A (p.R429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166288464A>T" "" "benign" "" "0000248355" "0" "10" "2" "167145142" "167145142" "subst" "0.367216" "02325" "SCN9A_000023" "g.167145142A>G" "" "" "" "SCN1A-AS1(NR_110260.1):n.1030-5933A>G, SCN9A(NM_002977.3):c.1119T>C (p.A373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166288632A>G" "" "benign" "" "0000248426" "0" "10" "2" "167060449" "167060449" "subst" "0.883024" "02325" "SCN9A_000085" "g.167060449A>T" "" "" "" "SCN1A-AS1(NR_110260.1):n.611+4121A>T, SCN9A(NM_002977.3):c.4741+16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166203939A>T" "" "benign" "" "0000249318" "0" "30" "2" "167085309" "167085309" "subst" "0" "02325" "SCN9A_000118" "g.167085309A>G" "" "" "" "SCN9A(NM_002977.3):c.4065T>C (p.N1355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166228799A>G" "" "likely benign" "" "0000250975" "0" "10" "2" "167138330" "167138330" "del" "0" "02326" "SCN9A_000142" "g.167138330del" "" "" "" "SCN9A(NM_002977.3):c.1942-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166281820del" "" "benign" "" "0000251264" "0" "10" "2" "167089816" "167089816" "subst" "0" "02326" "SCN9A_000120" "g.167089816A>T" "" "" "" "SCN9A(NM_002977.3):c.3891+34T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166233306A>T" "" "benign" "" "0000251265" "0" "10" "2" "167099279" "167099279" "subst" "0" "02326" "SCN9A_000123" "g.167099279A>G" "" "" "" "SCN9A(NM_002977.3):c.3440-113T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166242769A>G" "" "benign" "" "0000251266" "0" "10" "2" "167138324" "167138324" "subst" "0" "02326" "SCN9A_000169" "g.167138324A>T" "" "" "" "SCN9A(NM_002977.3):c.1942-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166281814A>T" "" "benign" "" "0000252053" "0" "30" "2" "167089980" "167089980" "subst" "0.00515161" "02326" "SCN9A_000121" "g.167089980A>G" "" "" "" "SCN9A(NM_002977.3):c.3769-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166233470A>G" "" "likely benign" "" "0000252054" "0" "30" "2" "167129390" "167129390" "subst" "6.87059E-6" "02326" "SCN9A_000128" "g.167129390A>T" "" "" "" "SCN9A(NM_002977.3):c.2842-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166272880A>T" "" "likely benign" "" "0000252055" "0" "30" "2" "167138322" "167138322" "subst" "0" "02326" "SCN9A_000143" "g.167138322A>T" "" "" "" "SCN9A(NM_002977.3):c.1942-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166281812A>T" "" "likely benign" "" "0000279397" "0" "10" "2" "167137119" "167137119" "subst" "0.493056" "02330" "SCN9A_000168" "g.167137119G>A" "" "" "" "SCN1A-AS1(NR_110260.1):n.1029+3362G>A, SCN9A(NM_002977.3):c.2072-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166280609G>A" "" "benign" "" "0000279398" "0" "10" "2" "167137120" "167137120" "subst" "0.155644" "02330" "SCN9A_000005" "g.167137120C>T" "" "" "" "SCN1A-AS1(NR_110260.1):n.1029+3363C>T, SCN9A(NM_002977.3):c.2072-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166280610C>T" "" "benign" "" "0000279399" "0" "10" "2" "167144995" "167144995" "subst" "0.367823" "02330" "SCN9A_000025" "g.167144995T>C" "" "" "" "SCN1A-AS1(NR_110260.1):n.1030-6080T>C, SCN9A(NM_002977.3):c.1266A>G (p.E422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166288485T>C" "" "benign" "" "0000286016" "0" "30" "2" "167136962" "167136962" "subst" "0.00240118" "02326" "SCN9A_000037" "g.167136962T>C" "" "" "" "SCN1A-AS1(NR_110260.1):n.1029+3205T>C, SCN9A(NM_002977.3):c.2215A>G (p.I739V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166280452T>C" "" "likely benign" "" "0000295668" "0" "10" "2" "167145151" "167145151" "subst" "0.00012219" "02330" "SCN9A_000148" "g.167145151C>T" "" "" "" "SCN9A(NM_002977.3):c.1110G>A (p.T370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166288641C>T" "" "benign" "" "0000295669" "0" "10" "2" "167145106" "167145106" "subst" "0.0149424" "02330" "SCN9A_000147" "g.167145106C>A" "" "" "" "SCN9A(NM_002977.3):c.1155G>T (p.V385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "rs58465962" "0" "" "" "g.166288596C>A" "" "benign" "" "0000295671" "0" "10" "2" "167142979" "167142979" "subst" "0.0150897" "02330" "SCN9A_000028" "g.167142979C>T" "" "" "" "SCN9A(NM_002977.3):c.1469G>A (p.S490N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166286469C>T" "" "benign" "" "0000295672" "0" "10" "2" "167168093" "167168093" "subst" "0.576119" "02330" "SCN9A_000008" "g.167168093C>T" "" "" "" "SCN9A(NM_002977.3):c.174G>A (p.Q58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166311583C>T" "" "benign" "" "0000295673" "0" "10" "2" "167141109" "167141109" "subst" "0.0241216" "02330" "SCN9A_000030" "g.167141109G>T" "" "" "" "SCN9A(NM_002977.3):c.1828C>A (p.P610T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166284599G>T" "" "benign" "" "0000295678" "0" "50" "2" "167137081" "167137081" "subst" "3.53907E-5" "02330" "SCN9A_000036" "g.167137081C>T" "" "" "" "SCN9A(NM_002977.3):c.2096G>A (p.C699Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166280571C>T" "" "VUS" "" "0000295679" "0" "50" "2" "167168247" "167168247" "subst" "1.22862E-5" "02330" "SCN9A_000153" "g.167168247G>A" "" "" "" "SCN9A(NM_002977.3):c.20C>T (p.P7L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166311737G>A" "" "VUS" "" "0000295680" "0" "50" "2" "167134700" "167134700" "subst" "0" "02330" "SCN9A_000136" "g.167134700G>C" "" "" "" "SCN9A(NM_002977.3):c.2434C>G (p.L812V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166278190G>C" "" "VUS" "" "0000295681" "0" "10" "2" "167133540" "167133540" "subst" "0.0365148" "02330" "SCN9A_000167" "g.167133540T>G" "" "" "" "SCN9A(NM_002977.3):c.2794A>C (p.M932L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166277030T>G" "" "benign" "" "0000295683" "0" "10" "2" "167133480" "167133482" "del" "0.0144449" "02330" "SCN9A_000132" "g.167133480_167133482del" "" "" "" "SCN9A(NM_002977.3):c.2841+11_2841+13delAGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166276970_166276972del" "" "benign" "" "0000295684" "0" "50" "2" "167129258" "167129258" "subst" "0.000622567" "02330" "SCN9A_000103" "g.167129258T>C" "" "" "" "SCN9A(NM_002977.3):c.2969A>G (p.Y990C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166272748T>C" "" "VUS" "" "0000295685" "0" "10" "2" "167129256" "167129256" "subst" "0.0329574" "02330" "SCN9A_000052" "g.167129256C>A" "" "" "" "SCN9A(NM_002977.3):c.2971G>T (p.V991L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166272746C>A" "" "benign" "" "0000295686" "0" "10" "2" "167129053" "167129053" "subst" "0.000130262" "02330" "SCN9A_000125" "g.167129053G>A" "" "" "" "SCN9A(NM_002977.3):c.3174C>T (p.H1058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166272543G>A" "" "benign" "" "0000295687" "0" "50" "2" "167128917" "167128917" "subst" "0.000336419" "02330" "SCN9A_000124" "g.167128917T>C" "" "" "" "SCN9A(NM_002977.3):c.3310A>G (p.S1104G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166272407T>C" "" "VUS" "" "0000295688" "0" "10" "2" "167108385" "167108385" "subst" "0.0205695" "02330" "SCN9A_000165" "g.167108385C>T" "" "" "" "SCN9A(NM_002977.3):c.3329G>A (p.R1110Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166251875C>T" "" "benign" "" "0000295689" "0" "10" "2" "167094730" "167094730" "subst" "0.00409143" "02330" "SCN9A_000122" "g.167094730G>T" "" "" "" "SCN9A(NM_002977.3):c.3642C>A (p.I1214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166238220G>T" "" "benign" "" "0000295690" "0" "10" "2" "167089976" "167089976" "subst" "0.0652962" "02330" "SCN9A_000161" "g.167089976T>C" "" "" "" "SCN9A(NM_002977.3):c.3769-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166233466T>C" "" "benign" "" "0000295691" "0" "10" "2" "167060988" "167060991" "del" "0" "02330" "SCN9A_000088" "g.167060988_167060991del" "" "" "" "SCN1A-AS1(NR_110260.1):n.611+4660_611+4663delCAAA, SCN9A(NM_002977.3):c.4366-10_4366-7delGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166204478_166204481del" "" "benign" "" "0000295692" "0" "10" "2" "167163043" "167163043" "subst" "0.628383" "02330" "SCN9A_000009" "g.167163043T>C" "" "" "" "SCN9A(NM_002977.3):c.444A>G (p.P148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166306533T>C" "" "benign" "" "0000295693" "0" "10" "2" "167056337" "167056337" "subst" "0.0616963" "02330" "SCN9A_000096" "g.167056337C>A" "" "" "" "SCN9A(NM_002977.3):c.4779G>T (p.V1593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166199827C>A" "" "benign" "" "0000295694" "0" "10" "2" "167056039" "167056039" "subst" "4.06072E-6" "02330" "SCN9A_000112" "g.167056039G>A" "" "" "" "SCN9A(NM_002977.3):c.5077C>T (p.L1693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166199529G>A" "" "benign" "" "0000295695" "0" "10" "2" "167055393" "167055393" "subst" "0.0613848" "02330" "SCN9A_000098" "g.167055393T>C" "" "" "" "SCN9A(NM_002977.3):c.5723A>G (p.D1908G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166198883T>C" "" "benign" "" "0000298018" "0" "10" "2" "167144995" "167144995" "subst" "0.367823" "02325" "SCN9A_000025" "g.167144995T>C" "" "" "" "SCN1A-AS1(NR_110260.1):n.1030-6080T>C, SCN9A(NM_002977.3):c.1266A>G (p.E422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166288485T>C" "" "benign" "" "0000298019" "0" "10" "2" "167142979" "167142979" "subst" "0.0150897" "02325" "SCN9A_000028" "g.167142979C>T" "" "" "" "SCN9A(NM_002977.3):c.1469G>A (p.S490N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166286469C>T" "" "benign" "" "0000298020" "0" "10" "2" "167168093" "167168093" "subst" "0.576119" "02325" "SCN9A_000008" "g.167168093C>T" "" "" "" "SCN9A(NM_002977.3):c.174G>A (p.Q58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166311583C>T" "" "benign" "" "0000298021" "0" "30" "2" "167138330" "167138330" "dup" "0" "02325" "SCN9A_000144" "g.167138330dup" "" "" "" "SCN9A(NM_002977.3):c.1942-13delAinsAT, SCN9A(NM_002977.3):c.1942-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166281820dup" "" "likely benign" "" "0000298023" "0" "10" "2" "167137119" "167137119" "subst" "0.493056" "02325" "SCN9A_000168" "g.167137119G>A" "" "" "" "SCN1A-AS1(NR_110260.1):n.1029+3362G>A, SCN9A(NM_002977.3):c.2072-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166280609G>A" "" "benign" "" "0000298024" "0" "30" "2" "167133482" "167133482" "del" "0" "02325" "SCN9A_000135" "g.167133482del" "" "" "" "SCN9A(NM_002977.3):c.2841+11delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166276972del" "" "likely benign" "" "0000298025" "0" "30" "2" "167133481" "167133481" "subst" "0" "02325" "SCN9A_000133" "g.167133481C>A" "" "" "" "SCN9A(NM_002977.3):c.2841+12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166276971C>A" "" "likely benign" "" "0000298026" "0" "30" "2" "167133480" "167133480" "subst" "0" "02325" "SCN9A_000130" "g.167133480T>A" "" "" "" "SCN9A(NM_002977.3):c.2841+13A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166276970T>A" "" "likely benign" "" "0000298027" "0" "50" "2" "167129140" "167129140" "subst" "4.07754E-6" "02325" "SCN9A_000127" "g.167129140G>C" "" "" "" "SCN9A(NM_002977.3):c.3087C>G (p.N1029K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166272630G>C" "" "VUS" "" "0000298028" "0" "30" "2" "167129065" "167129065" "subst" "0.000309328" "02325" "SCN9A_000126" "g.167129065G>A" "" "" "" "SCN9A(NM_002977.3):c.3162C>T (p.S1054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166272555G>A" "" "likely benign" "" "0000298029" "0" "50" "2" "167163482" "167163482" "subst" "0.000180146" "02325" "SCN9A_000152" "g.167163482T>G" "" "" "" "SCN9A(NM_002977.3):c.361A>C (p.K121Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166306972T>G" "" "VUS" "" "0000298031" "0" "10" "2" "167060988" "167060991" "del" "0" "02325" "SCN9A_000117" "g.167060988_167060991del" "" "" "" "SCN1A-AS1(NR_110260.1):n.611+4660_611+4663delCAAA, SCN9A(NM_002977.3):c.4366-10_4366-7delGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166204478_166204481del" "" "benign" "" "0000298032" "0" "10" "2" "167163043" "167163043" "subst" "0.628383" "02325" "SCN9A_000009" "g.167163043T>C" "" "" "" "SCN9A(NM_002977.3):c.444A>G (p.P148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166306533T>C" "" "benign" "" "0000298033" "0" "50" "2" "167055747" "167055747" "subst" "0" "02325" "SCN9A_000111" "g.167055747T>G" "" "" "" "SCN9A(NM_002977.3):c.5369A>C (p.K1790T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166199237T>G" "" "VUS" "" "0000301963" "0" "10" "2" "167145106" "167145106" "subst" "0.0149424" "02326" "SCN9A_000147" "g.167145106C>A" "" "" "" "SCN9A(NM_002977.3):c.1155G>T (p.V385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "rs58465962" "0" "" "" "g.166288596C>A" "" "benign" "" "0000301964" "0" "10" "2" "167142979" "167142979" "subst" "0.0150897" "02326" "SCN9A_000028" "g.167142979C>T" "" "" "" "SCN9A(NM_002977.3):c.1469G>A (p.S490N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166286469C>T" "" "benign" "" "0000301965" "0" "10" "2" "167168093" "167168093" "subst" "0.576119" "02326" "SCN9A_000008" "g.167168093C>T" "" "" "" "SCN9A(NM_002977.3):c.174G>A (p.Q58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166311583C>T" "" "benign" "" "0000301966" "0" "30" "2" "167141109" "167141109" "subst" "0.0241216" "02326" "SCN9A_000030" "g.167141109G>T" "" "" "" "SCN9A(NM_002977.3):c.1828C>A (p.P610T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166284599G>T" "" "likely benign" "" "0000301967" "0" "10" "2" "167137119" "167137119" "subst" "0.493056" "02326" "SCN9A_000168" "g.167137119G>A" "" "" "" "SCN1A-AS1(NR_110260.1):n.1029+3362G>A, SCN9A(NM_002977.3):c.2072-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166280609G>A" "" "benign" "" "0000301968" "0" "10" "2" "167137175" "167137175" "subst" "0" "02326" "SCN9A_000140" "g.167137175G>A" "" "" "" "SCN9A(NM_002977.3):c.2072-70C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166280665G>A" "" "benign" "" "0000301970" "0" "50" "2" "167134700" "167134700" "subst" "0" "02326" "SCN9A_000136" "g.167134700G>C" "" "" "" "SCN9A(NM_002977.3):c.2434C>G (p.L812V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166278190G>C" "" "VUS" "" "0000301971" "0" "30" "2" "167133481" "167133481" "subst" "0" "02326" "SCN9A_000133" "g.167133481C>A" "" "" "" "SCN9A(NM_002977.3):c.2841+12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166276971C>A" "" "likely benign" "" "0000301972" "0" "10" "2" "167133480" "167133480" "del" "0" "02326" "SCN9A_000131" "g.167133480del" "" "" "" "SCN9A(NM_002977.3):c.2841+13delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166276970del" "" "benign" "" "0000301973" "0" "10" "2" "167129391" "167129391" "subst" "0" "02326" "SCN9A_000129" "g.167129391T>A" "" "" "" "SCN9A(NM_002977.3):c.2842-6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166272881T>A" "" "benign" "" "0000301974" "0" "10" "2" "167108385" "167108385" "subst" "0.0205695" "02326" "SCN9A_000165" "g.167108385C>T" "" "" "" "SCN9A(NM_002977.3):c.3329G>A (p.R1110Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166251875C>T" "" "benign" "" "0000301975" "0" "10" "2" "167089976" "167089976" "subst" "0.0652962" "02326" "SCN9A_000161" "g.167089976T>C" "" "" "" "SCN9A(NM_002977.3):c.3769-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166233466T>C" "" "benign" "" "0000301976" "0" "10" "2" "167163375" "167163375" "dup" "0" "02326" "SCN9A_000151" "g.167163375dup" "" "" "" "SCN9A(NM_002977.3):c.377+92dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166306865dup" "" "benign" "" "0000301977" "0" "10" "2" "167163373" "167163373" "subst" "0" "02326" "SCN9A_000011" "g.167163373C>A" "" "" "" "SCN9A(NM_002977.3):c.377+93G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166306863C>A" "" "benign" "" "0000301978" "0" "10" "2" "167163372" "167163372" "subst" "0" "02326" "SCN9A_000001" "g.167163372T>C" "" "" "" "SCN9A(NM_002977.3):c.377+94A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166306862T>C" "" "benign" "" "0000301979" "0" "50" "2" "167089942" "167089942" "subst" "0.00116983" "02326" "SCN9A_000155" "g.167089942G>C" "" "" "" "SCN9A(NM_002977.3):c.3799C>G (p.L1267V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166233432G>C" "" "VUS" "" "0000301981" "0" "10" "2" "167060988" "167060991" "del" "0" "02326" "SCN9A_000088" "g.167060988_167060991del" "" "" "" "SCN1A-AS1(NR_110260.1):n.611+4660_611+4663delCAAA, SCN9A(NM_002977.3):c.4366-10_4366-7delGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166204478_166204481del" "" "benign" "" "0000301982" "0" "10" "2" "167060984" "167060984" "del" "0" "02326" "SCN9A_000114" "g.167060984del" "" "" "" "SCN9A(NM_002977.3):c.4366-10delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166204474del" "" "benign" "" "0000301983" "0" "10" "2" "167060984" "167060984" "subst" "0" "02326" "SCN9A_000115" "g.167060984C>G" "" "" "" "SCN9A(NM_002977.3):c.4366-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166204474C>G" "" "benign" "" "0000301984" "0" "30" "2" "167060988" "167060988" "subst" "0.00113472" "02326" "SCN9A_000116" "g.167060988C>A" "" "" "" "SCN9A(NM_002977.3):c.4366-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166204478C>A" "" "likely benign" "" "0000301985" "0" "10" "2" "167056418" "167056418" "subst" "0.0042013" "02326" "SCN9A_000113" "g.167056418T>C" "" "" "" "SCN9A(NM_002977.3):c.4742-44A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166199908T>C" "" "benign" "" "0000301986" "0" "10" "2" "167162344" "167162344" "subst" "0.00284574" "02326" "SCN9A_000150" "g.167162344C>T" "" "" "" "SCN9A(NM_002977.3):c.554G>A (p.R185H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166305834C>T" "" "benign" "" "0000301987" "0" "10" "2" "167055203" "167055203" "subst" "4.23847E-6" "02326" "SCN9A_000109" "g.167055203G>A" "" "" "" "SCN9A(NM_002977.3):c.5913C>T (p.D1971=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166198693G>A" "" "benign" "" "0000307832" "0" "30" "2" "167143050" "167143050" "subst" "0.00302389" "01943" "SCN9A_000146" "g.167143050G>A" "" "" "" "SCN9A(NM_002977.3):c.1398C>T (p.S466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166286540G>A" "" "likely benign" "" "0000307833" "0" "30" "2" "167129053" "167129053" "subst" "0.000130262" "01943" "SCN9A_000125" "g.167129053G>A" "" "" "" "SCN9A(NM_002977.3):c.3174C>T (p.H1058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166272543G>A" "" "likely benign" "" "0000307834" "0" "10" "2" "167162344" "167162344" "subst" "0.00284574" "01943" "SCN9A_000150" "g.167162344C>T" "" "" "" "SCN9A(NM_002977.3):c.554G>A (p.R185H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166305834C>T" "" "benign" "" "0000307835" "0" "30" "2" "167055370" "167055370" "subst" "0.000768786" "01943" "SCN9A_000110" "g.167055370G>A" "" "" "" "SCN9A(NM_002977.3):c.5746C>T (p.L1916F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166198860G>A" "" "likely benign" "" "0000307836" "0" "50" "2" "167159786" "167159786" "subst" "0" "01943" "SCN9A_000149" "g.167159786T>C" "" "" "" "SCN9A(NM_002977.3):c.715A>G (p.I239V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166303276T>C" "" "VUS" "" "0000343579" "0" "30" "2" "167094638" "167094638" "subst" "0.00443507" "02327" "SCN9A_000162" "g.167094638T>C" "" "" "" "SCN9A(NM_002977.3):c.3734A>G (p.N1245S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166238128T>C" "" "likely benign" "" "0000350966" "0" "50" "2" "167133602" "167133602" "subst" "0" "02327" "SCN9A_000154" "g.167133602C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.166277092C>T" "" "VUS" "" "0000351740" "0" "90" "2" "167168093" "167168093" "subst" "0.576119" "02384" "SCN9A_000008" "g.167168093C>T" "" "{PMID:Drenth 2005:15955112}" "" "" "" "Germline" "" "" "0" "" "" "g.166311583C>T" "" "pathogenic" "" "0000351741" "0" "90" "2" "167163043" "167163043" "subst" "0.628383" "02384" "SCN9A_000009" "g.167163043T>C" "" "{PMID:Drenth 2005:15955112}" "" "P148P" "" "Germline" "" "" "0" "" "" "g.166306533T>C" "" "pathogenic" "" "0000351742" "10" "50" "2" "167054936" "167054939" "dup" "0" "02384" "SCN9A_000010" "g.167054936_167054939dup" "" "Lossin, unpublished data" "" "5934*243_246dupTGAT" "" "Germline" "" "" "0" "" "" "g.166198426_166198429dup" "" "VUS" "" "0000351744" "0" "50" "2" "167137120" "167137120" "subst" "0.155644" "02384" "SCN9A_000005" "g.167137120C>T" "" "Lossin, unpublished data" "" "" "" "Germline" "" "" "0" "" "" "g.166280610C>T" "" "VUS" "" "0000351745" "0" "50" "2" "167163372" "167163372" "subst" "0" "02384" "SCN9A_000001" "g.167163372T>C" "" "Lossin, unpublished data" "" "" "" "Germline" "" "" "0" "" "" "g.166306862T>C" "" "VUS" "" "0000351746" "0" "50" "2" "167163199" "167163199" "subst" "0" "02384" "SCN9A_000002" "g.167163199A>T" "" "Lossin, unpublished data" "" "" "" "Germline" "" "" "0" "" "" "g.166306689A>T" "" "VUS" "" "0000351748" "20" "50" "2" "167060988" "167060991" "del" "0" "02384" "SCN9A_000006" "g.167060988_167060991del" "" "Lossin, unpublished data" "" "4366-10_4366-7delGTTT" "" "Germline" "" "" "0" "" "" "g.166204478_166204481del" "" "VUS" "" "0000351749" "10" "50" "2" "167060449" "167060449" "subst" "0.883024" "02384" "SCN9A_000007" "g.167060449A>T" "" "Lossin, unpublished data" "" "" "" "Germline" "" "" "0" "" "" "g.166203939A>T" "" "VUS" "" "0000351750" "20" "50" "2" "167060449" "167060449" "subst" "0.883024" "02384" "SCN9A_000007" "g.167060449A>T" "" "Lossin, unpublished data" "" "" "" "Germline" "" "" "0" "" "" "g.166203939A>T" "" "VUS" "" "0000351751" "0" "50" "2" "167162277" "167162277" "subst" "0.71216" "02384" "SCN9A_000003" "g.167162277G>A" "" "Lossin, unpublished data" "" "" "" "Germline" "" "" "0" "" "" "g.166305767G>A" "" "VUS" "" "0000351752" "0" "50" "2" "167160029" "167160029" "subst" "0" "02384" "SCN9A_000004" "g.167160029T>C" "" "Lossin, unpublished data" "" "" "" "Germline" "" "" "0" "" "" "g.166303519T>C" "" "VUS" "" "0000351754" "0" "90" "2" "167133791" "167133791" "subst" "0" "02384" "SCN9A_000044" "g.167133791A>G" "" "{PMID:Yang 2004:14985375}" "" "" "" "De novo" "" "" "0" "" "" "g.166277281A>G" "" "pathogenic" "" "0000351755" "0" "90" "2" "167133761" "167133761" "subst" "0" "02384" "SCN9A_000046" "g.167133761A>T" "" "{PMID:Yang 2004:14985375}" "" "" "" "Germline" "" "" "0" "" "" "g.166277251A>T" "" "pathogenic" "" "0000351756" "0" "90" "2" "167145076" "167145076" "subst" "0" "02384" "SCN9A_000024" "g.167145076G>T" "" "{PMID:Drenth 2005:15955112}" "" "N395K" "" "Germline" "" "" "0" "" "" "g.166288566G>T" "" "pathogenic" "" "0000351757" "0" "90" "2" "167141109" "167141109" "subst" "0.0241216" "02384" "SCN9A_000030" "g.167141109G>T" "" "{PMID:Drenth 2005:15955112}" "" "" "" "Germline" "" "" "0" "" "" "g.166284599G>T" "" "pathogenic" "" "0000351758" "0" "90" "2" "167133762" "167133762" "subst" "0" "02384" "SCN9A_000045" "g.167133762G>A" "" "{PMID:Drenth 2005:15955112}" "" "" "" "Germline" "" "" "0" "" "" "g.166277252G>A" "" "pathogenic" "" "0000351759" "0" "90" "2" "167099158" "167099158" "subst" "0" "02384" "SCN9A_000055" "g.167099158G>A" "" "{PMID:Drenth 2005:15955112}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000351760" "0" "90" "2" "167160789" "167160789" "subst" "0" "02384" "SCN9A_000017" "g.167160789A>G" "" "{PMID:Drenth 2005:15955112}" "" "" "" "Germline" "" "" "0" "" "" "g.166304279A>G" "" "pathogenic" "" "0000351761" "0" "50" "2" "167144995" "167144995" "subst" "0.367823" "02384" "SCN9A_000025" "g.167144995T>C" "" "{PMID:Drenth 2005:15955112}" "" "E422E" "" "Germline" "" "rs13402180" "0" "" "" "g.166288485T>C" "" "VUS" "" "0000351762" "0" "50" "2" "167145142" "167145142" "subst" "0.367216" "02384" "SCN9A_000023" "g.167145142A>G" "" "{PMID:Drenth 2005:15955112}" "" "A373A" "" "Germline" "" "rs13414203" "0" "" "" "g.166288632A>G" "" "VUS" "" "0000351763" "0" "50" "2" "167144974" "167144974" "subst" "0.493234" "02384" "SCN9A_000026" "g.167144974A>T" "" "{PMID:Drenth 2005:15955112}" "" "R429R" "" "Germline" "" "rs6747673" "0" "" "" "g.166288464A>T" "" "VUS" "" "0000351764" "0" "90" "2" "167083097" "167083097" "subst" "0" "02384" "SCN9A_000062" "g.167083097A>C" "" "{PMID:Dib-Hajj 2005:15958509}" "" "" "" "Germline" "" "" "0" "" "" "g.166226587A>C" "" "pathogenic" "" "0000351765" "0" "90" "2" "167159780" "167159780" "subst" "0" "02384" "SCN9A_000019" "g.167159780A>T" "" "{PMID:Lampert 2006:17008310}" "" "" "" "Germline" "" "" "0" "" "" "g.166303270A>T" "" "pathogenic" "" "0000351766" "0" "90" "2" "167133747" "167133747" "subst" "0" "02384" "SCN9A_000047" "g.167133747C>G" "" "{PMID:Harty 2006:17135418}" "" "" "" "Germline" "" "" "0" "" "" "g.166277237C>G" "" "pathogenic" "" "0000351767" "0" "90" "2" "167129241" "167129241" "subst" "1.33871E-5" "02384" "SCN9A_000053" "g.167129241G>A" "" "{PMID:Fertleman 2006:17145499}" "" "" "" "Germline" "" "" "0" "" "" "g.166272731G>A" "" "pathogenic" "" "0000351768" "0" "90" "2" "167060958" "167060958" "subst" "0" "02384" "SCN9A_000063" "g.167060958A>G" "" "{PMID:Fertleman 2006:17145499}" "" "" "" "Germline" "" "" "0" "" "" "g.166204448A>G" "" "pathogenic" "" "0000351769" "0" "90" "2" "167060949" "167060949" "subst" "0" "02384" "SCN9A_000064" "g.167060949G>A" "" "{PMID:Fertleman 2006:17145499}" "" "" "" "Germline" "" "" "0" "" "" "g.166204439G>A" "" "pathogenic" "" "0000351770" "0" "90" "2" "167056236" "167056236" "subst" "0" "02384" "SCN9A_000065" "g.167056236A>T" "" "{PMID:Fertleman 2006:17145499}" "" "" "" "Germline" "" "" "0" "" "" "g.166199726A>T" "" "pathogenic" "" "0000351771" "0" "90" "2" "167143072" "167143072" "subst" "0" "02384" "SCN9A_000027" "g.167143072G>C" "" "{PMID:Cox 2006:17167479}" "" "S459X" "" "Germline" "" "" "0" "" "" "g.166286562G>C" "" "pathogenic" "" "0000351772" "0" "90" "2" "167136879" "167136879" "del" "0" "02384" "SCN9A_000039" "g.167136879del" "" "{PMID:Cox 2006:17167479}" "" "2298delT (I767X)" "" "Germline" "" "" "0" "" "" "g.166280369del" "" "pathogenic" "" "0000351773" "0" "90" "2" "167133643" "167133643" "subst" "0" "02384" "SCN9A_000049" "g.167133643C>T" "" "{PMID:Cox 2006:17167479}" "" "W897X" "" "Germline" "" "" "0" "" "" "g.166277133C>T" "" "pathogenic" "" "0000351774" "0" "90" "2" "167094663" "167094673" "del" "0" "02384" "SCN9A_000058" "g.167094663_167094673del" "" "{PMID:Cox 2006:17167479}" "" "3703delATAGCATATGG" "" "Germline" "" "" "0" "" "" "g.166238153_166238163del" "" "pathogenic" "" "0000351775" "0" "90" "2" "167056141" "167056141" "subst" "0" "02384" "SCN9A_000067" "g.167056141T>A" "" "{PMID:Cox 2006:17167479}" "" "" "" "Germline" "" "" "0" "" "" "g.166199631T>A" "" "pathogenic" "" "0000351776" "0" "90" "2" "167159672" "167159672" "subst" "1.63887E-5" "02384" "SCN9A_000021" "g.167159672G>A" "" "{PMID:Goldberg 2007:17470132}" "" "" "" "Germline" "" "" "0" "" "" "g.166303162G>A" "" "pathogenic" "" "0000351777" "0" "90" "2" "167149864" "167149864" "subst" "0" "02384" "SCN9A_000022" "g.167149864G>T" "" "{PMID:Goldberg 2007:17470132}" "" "" "" "Germline" "" "" "0" "" "" "g.166293354G>T" "" "pathogenic" "" "0000351778" "0" "90" "2" "167085482" "167085482" "subst" "0" "02384" "SCN9A_000060" "g.167085482C>A" "" "{PMID:Jarecki 2008:18599537}" "" "" "" "Germline" "" "" "0" "" "" "g.166228972C>A" "" "pathogenic" "" "0000351779" "0" "90" "2" "167085479" "167085479" "subst" "0" "02384" "SCN9A_000061" "g.167085479C>A" "" "{PMID:Jarecki 2008:18599537}" "" "" "" "Germline" "" "" "0" "" "" "g.166228969C>A" "" "pathogenic" "" "0000351780" "0" "90" "2" "167163081" "167163081" "subst" "0" "02384" "SCN9A_000013" "g.167163081T>C" "" "{PMID:Cheng 2008:18826595}" "" "" "" "Germline" "" "" "0" "" "" "g.166306571T>C" "" "pathogenic" "" "0000351781" "0" "90" "2" "167056221" "167056221" "subst" "0" "02384" "SCN9A_000066" "g.167056221G>T" "" "{PMID:Estacion 2008:18945915}" "" "" "" "Germline" "" "" "0" "" "" "g.166199711G>T" "" "pathogenic" "" "0000351782" "0" "90" "2" "167133719" "167133719" "subst" "0" "02384" "SCN9A_000048" "g.167133719A>C" "" "{PMID:Choi 2009:19162012}" "" "" "" "Germline" "" "" "0" "" "" "g.166277209A>C" "" "pathogenic" "" "0000351783" "0" "90" "2" "167133846" "167133846" "subst" "1.67365E-5" "02384" "SCN9A_000043" "g.167133846G>A" "" "{PMID:Nilsen 2009:19304393}" "" "" "" "Germline" "" "" "0" "" "" "g.166277336G>A" "" "pathogenic" "" "0000351784" "0" "90" "2" "167159730" "167159731" "del" "0" "02384" "SCN9A_000020" "g.167159730_167159731del" "" "{PMID:Nilsen 2009:19304393}" "" "774_775delGT" "" "Germline" "" "" "0" "" "" "g.166303220_166303221del" "" "pathogenic" "" "0000351785" "0" "90" "2" "167141016" "167141016" "subst" "2.85801E-5" "02384" "SCN9A_000032" "g.167141016T>A" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166284506T>A" "" "pathogenic" "" "0000351786" "21" "90" "2" "167142893" "167142893" "subst" "0.00045945" "02384" "SCN9A_000029" "g.167142893C>T" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166286383C>T" "" "pathogenic" "" "0000351787" "21" "90" "2" "167138208" "167138208" "subst" "6.51105E-5" "02384" "SCN9A_000035" "g.167138208T>C" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166281698T>C" "" "pathogenic" "" "0000351788" "21" "90" "2" "167108345" "167108345" "subst" "0.000432452" "02384" "SCN9A_000054" "g.167108345C>A" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166251835C>A" "" "pathogenic" "" "0000351789" "21" "90" "2" "167099128" "167099128" "subst" "0" "02384" "SCN9A_000056" "g.167099128C>G" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166242618C>G" "" "pathogenic" "" "0000351790" "21" "90" "2" "167160752" "167160752" "subst" "0.000920076" "02384" "SCN9A_000018" "g.167160752G>C" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166304242G>C" "" "pathogenic" "" "0000351791" "0" "90" "2" "167142979" "167142979" "subst" "0.0150897" "02384" "SCN9A_000028" "g.167142979C>T" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166286469C>T" "" "pathogenic" "" "0000351792" "0" "90" "2" "167168083" "167168083" "subst" "2.84338E-5" "02384" "SCN9A_000012" "g.167168083T>C" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166311573T>C" "" "pathogenic" "" "0000351793" "0" "90" "2" "167138296" "167138296" "subst" "0.00192926" "02384" "SCN9A_000033" "g.167138296T>C" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166281786T>C" "" "pathogenic" "" "0000351794" "0" "90" "2" "167089942" "167089942" "subst" "0" "02384" "SCN9A_000059" "g.167089942G>T" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166233432G>T" "" "pathogenic" "" "0000351795" "0" "90" "2" "167163041" "167163041" "subst" "0" "02384" "SCN9A_000014" "g.167163041G>T" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166306531G>T" "" "pathogenic" "" "0000351796" "11" "90" "2" "167138296" "167138296" "subst" "0.00192926" "02384" "SCN9A_000033" "g.167138296T>C" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166281786T>C" "" "pathogenic" "" "0000351797" "11" "90" "2" "167137081" "167137081" "subst" "3.53907E-5" "02384" "SCN9A_000036" "g.167137081C>T" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166280571C>T" "" "pathogenic" "" "0000351798" "11" "90" "2" "167136962" "167136962" "subst" "0.00240118" "02384" "SCN9A_000037" "g.167136962T>C" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166280452T>C" "" "pathogenic" "" "0000351799" "11" "90" "2" "167136962" "167136962" "subst" "0.00240118" "02384" "SCN9A_000037" "g.167136962T>C" "" "{PMID:Singh 2009:19763161}" "" "" "" "Germline" "" "" "0" "" "" "g.166280452T>C" "" "pathogenic" "" "0000351800" "0" "90" "2" "167134666" "167134666" "subst" "0" "02384" "SCN9A_000042" "g.167134666A>C" "" "{PMID:Hisama 2006.:20301342}" "" "" "" "Germline" "" "" "0" "" "" "g.166278156A>C" "" "pathogenic" "" "0000351801" "0" "90" "2" "167160835" "167160835" "subst" "8.14637E-6" "02384" "SCN9A_000015" "g.167160835A>C" "" "{PMID:Hisama 2006.:20301342}" "" "" "" "Germline" "" "" "0" "" "" "g.166304325A>C" "" "pathogenic" "" "0000351802" "0" "90" "2" "167160820" "167160820" "subst" "0" "02384" "SCN9A_000016" "g.167160820T>C" "" "{PMID:Hisama 2006.:20301342}" "" "" "" "Germline" "" "" "0" "" "" "g.166304310T>C" "" "pathogenic" "" "0000351803" "0" "90" "2" "167141091" "167141091" "subst" "6.91484E-5" "02384" "SCN9A_000031" "g.167141091C>T" "" "{PMID:Choi 2010:20478850}" "" "" "" "Germline" "" "" "0" "" "" "g.166284581C>T" "" "pathogenic" "" "0000351812" "0" "90" "2" "167094775" "167094775" "del" "0" "02384" "SCN9A_000070" "g.167094775del" "" "{PMID:Goldberg 2007:17470132}" "" "3600delT" "" "Germline" "" "" "0" "" "" "g.166238265del" "" "pathogenic" "" "0000351813" "0" "90" "2" "167060878" "167060878" "subst" "8.15155E-6" "02384" "SCN9A_000071" "g.167060878G>A" "" "{PMID:Goldberg 2007:17470132}" "" "" "" "Germline" "" "" "0" "" "" "g.166204368G>A" "" "pathogenic" "" "0000351814" "0" "90" "2" "167056049" "167056049" "subst" "0" "02384" "SCN9A_000072" "g.167056049C>T" "" "{PMID:Goldberg 2007:17470132}" "" "" "" "Germline" "" "" "0" "" "" "g.166199539C>T" "" "pathogenic" "" "0000351815" "0" "90" "2" "167137102" "167137102" "dup" "0" "02384" "SCN9A_000073" "g.167137102dup" "" "{PMID:Goldberg 2007:17470132}" "" "" "" "Germline" "" "" "0" "" "" "g.166280592dup" "" "pathogenic" "" "0000351816" "0" "90" "2" "167133767" "167133767" "subst" "0" "02384" "SCN9A_000084" "g.167133767C>T" "" "{PMID:Hoeijmakers 2012:22286749}" "" "" "" "Germline" "" "" "0" "" "" "g.166277257C>T" "" "pathogenic" "" "0000357710" "3" "90" "2" "167060878" "167060878" "subst" "8.15155E-6" "02402" "SCN9A_000071" "g.167060878G>A" "" "" "" "" "" "Germline" "" "rs187558439" "0" "" "" "g.166204368G>A" "{CV:245799}" "pathogenic" "" "0000442704" "0" "70" "2" "167138235" "167138238" "del" "0" "01164" "SCN9A_000171" "g.167138235_167138238del" "" "" "" "" "no second variant deceted in SCN9A, LOF variants in SCN9A follow a recessive mode of inheritance" "Germline" "" "" "0" "" "" "g.166281725_166281728del" "" "likely pathogenic" "ACMG" "0000455010" "1" "90" "2" "167060610" "167060610" "subst" "4.08013E-6" "00006" "SCN9A_000172" "g.167060610C>T" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.166204100C>T" "" "pathogenic" "" "0000509971" "0" "30" "2" "167055201" "167055201" "subst" "1.73046E-5" "01943" "SCN9A_000173" "g.167055201C>A" "" "" "" "SCN9A(NM_002977.3):c.5915G>T (p.S1972I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166198691C>A" "" "likely benign" "" "0000509972" "0" "30" "2" "167055809" "167055809" "subst" "4.06055E-6" "02327" "SCN9A_000174" "g.167055809C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166199299C>T" "" "likely benign" "" "0000509973" "0" "70" "2" "167055856" "167055856" "subst" "0" "02327" "SCN9A_000175" "g.167055856C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166199346C>A" "" "likely pathogenic" "" "0000509974" "0" "30" "2" "167055986" "167055986" "subst" "0" "02327" "SCN9A_000176" "g.167055986A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166199476A>G" "" "likely benign" "" "0000509975" "0" "70" "2" "167056146" "167056146" "subst" "0" "02327" "SCN9A_000177" "g.167056146T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166199636T>G" "" "likely pathogenic" "" "0000509976" "0" "70" "2" "167056257" "167056257" "subst" "4.06062E-5" "02327" "SCN9A_000178" "g.167056257C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166199747C>A" "" "likely pathogenic" "" "0000509977" "0" "50" "2" "167060594" "167060594" "subst" "0.00203265" "02327" "SCN9A_000086" "g.167060594A>G" "" "" "" "SCN9A(NM_002977.3):c.4612T>C (p.W1538R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166204084A>G" "" "VUS" "" "0000509978" "0" "50" "2" "167060621" "167060626" "del" "0" "02327" "SCN9A_000179" "g.167060621_167060626del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166204111_166204116del" "" "VUS" "" "0000509979" "0" "30" "2" "167060867" "167060867" "dup" "0" "02330" "SCN9A_000180" "g.167060867dup" "" "" "" "SCN9A(NM_002977.3):c.4470+9dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166204357dup" "" "likely benign" "" "0000509980" "0" "90" "2" "167060896" "167060896" "dup" "0" "02327" "SCN9A_000181" "g.167060896dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166204386dup" "" "pathogenic" "" "0000509981" "0" "30" "2" "167083041" "167083041" "subst" "0.000197213" "02327" "SCN9A_000182" "g.167083041C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166226531C>T" "" "likely benign" "" "0000509982" "0" "30" "2" "167083063" "167083063" "subst" "2.00367E-5" "02327" "SCN9A_000183" "g.167083063T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166226553T>C" "" "likely benign" "" "0000509983" "0" "30" "2" "167083160" "167083160" "subst" "0.0015724" "02330" "SCN9A_000184" "g.167083160C>T" "" "" "" "SCN9A(NM_002977.3):c.4282G>A (p.V1428I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166226650C>T" "" "likely benign" "" "0000509984" "0" "30" "2" "167083161" "167083161" "subst" "0.00119698" "02325" "SCN9A_000185" "g.167083161G>A" "" "" "" "SCN9A(NM_002977.3):c.4281C>T (p.V1427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166226651G>A" "" "likely benign" "" "0000509985" "0" "30" "2" "167085297" "167085297" "subst" "0.00030053" "01943" "SCN9A_000186" "g.167085297A>G" "" "" "" "SCN9A(NM_002977.3):c.4077T>C (p.C1359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166228787A>G" "" "likely benign" "" "0000509986" "0" "10" "2" "167089716" "167089719" "dup" "0" "02326" "SCN9A_000187" "g.167089716_167089719dup" "" "" "" "SCN9A(NM_002977.3):c.3891+133_3891+136dupCATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166233206_166233209dup" "" "benign" "" "0000509987" "0" "70" "2" "167089899" "167089899" "subst" "0" "02327" "SCN9A_000188" "g.167089899A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166233389A>C" "" "likely pathogenic" "" "0000509988" "0" "50" "2" "167089905" "167089905" "subst" "3.1813E-5" "02327" "SCN9A_000189" "g.167089905C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166233395C>T" "" "VUS" "" "0000509989" "0" "30" "2" "167089906" "167089906" "subst" "0" "02327" "SCN9A_000190" "g.167089906G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166233396G>T" "" "likely benign" "" "0000509990" "0" "30" "2" "167089942" "167089942" "subst" "0.00116983" "02330" "SCN9A_000155" "g.167089942G>C" "" "" "" "SCN9A(NM_002977.3):c.3799C>G (p.L1267V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166233432G>C" "" "likely benign" "" "0000509991" "0" "30" "2" "167089942" "167089942" "subst" "0.00116983" "02327" "SCN9A_000155" "g.167089942G>C" "" "" "" "SCN9A(NM_002977.3):c.3799C>G (p.L1267V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166233432G>C" "" "likely benign" "" "0000509992" "0" "30" "2" "167089985" "167089985" "subst" "0" "02327" "SCN9A_000191" "g.167089985C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166233475C>T" "" "likely benign" "" "0000509993" "0" "30" "2" "167089999" "167089999" "subst" "4.44237E-5" "02327" "SCN9A_000192" "g.167089999G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166233489G>T" "" "likely benign" "" "0000509994" "0" "10" "2" "167094638" "167094638" "subst" "0.00443507" "02330" "SCN9A_000162" "g.167094638T>C" "" "" "" "SCN9A(NM_002977.3):c.3734A>G (p.N1245S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166238128T>C" "" "benign" "" "0000509995" "0" "30" "2" "167094638" "167094638" "subst" "0.00443507" "01943" "SCN9A_000162" "g.167094638T>C" "" "" "" "SCN9A(NM_002977.3):c.3734A>G (p.N1245S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166238128T>C" "" "likely benign" "" "0000509996" "0" "30" "2" "167094638" "167094638" "subst" "0.00443507" "02326" "SCN9A_000162" "g.167094638T>C" "" "" "" "SCN9A(NM_002977.3):c.3734A>G (p.N1245S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166238128T>C" "" "likely benign" "" "0000509997" "0" "10" "2" "167094730" "167094730" "subst" "0.00409143" "02327" "SCN9A_000122" "g.167094730G>T" "" "" "" "SCN9A(NM_002977.3):c.3642C>A (p.I1214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166238220G>T" "" "benign" "" "0000509998" "0" "50" "2" "167094764" "167094764" "subst" "0" "02330" "SCN9A_000193" "g.167094764A>G" "" "" "" "SCN9A(NM_002977.3):c.3608T>C (p.I1203T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166238254A>G" "" "VUS" "" "0000509999" "0" "50" "2" "167094788" "167094788" "subst" "0" "02327" "SCN9A_000194" "g.167094788A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166238278A>C" "" "VUS" "" "0000510000" "0" "10" "2" "167099158" "167099158" "subst" "0.879499" "02325" "SCN9A_000164" "g.167099158A>G" "" "" "" "SCN1A-AS1(NR_110260.1):n.612-5547A>G, SCN9A(NM_002977.3):c.3448T>C (p.W1150R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000510001" "0" "30" "2" "167108261" "167108261" "subst" "0.000420477" "02327" "SCN9A_000195" "g.167108261A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166251751A>G" "" "likely benign" "" "0000510002" "0" "30" "2" "167108386" "167108386" "subst" "0.00364764" "02327" "SCN9A_000101" "g.167108386G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166251876G>A" "" "likely benign" "" "0000510003" "0" "30" "2" "167108424" "167108424" "subst" "6.59353E-5" "02327" "SCN9A_000196" "g.167108424T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166251914T>C" "" "likely benign" "" "0000510004" "0" "30" "2" "167128869" "167128869" "subst" "3.03374E-5" "02327" "SCN9A_000197" "g.167128869A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166272359A>G" "" "likely benign" "" "0000510005" "0" "50" "2" "167128931" "167128931" "subst" "0.000179659" "02330" "SCN9A_000198" "g.167128931G>A" "" "" "" "SCN9A(NM_002977.3):c.3296C>T (p.S1099L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166272421G>A" "" "VUS" "" "0000510006" "0" "50" "2" "167129135" "167129135" "subst" "2.44579E-5" "02327" "SCN9A_000199" "g.167129135G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166272625G>A" "" "VUS" "" "0000510007" "0" "30" "2" "167129173" "167129173" "subst" "0" "02327" "SCN9A_000200" "g.167129173A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166272663A>C" "" "likely benign" "" "0000510008" "0" "50" "2" "167129209" "167129209" "subst" "0.000383831" "02327" "SCN9A_000201" "g.167129209C>G" "" "" "" "SCN9A(NM_002977.3):c.3018G>C (p.K1006N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166272699C>G" "" "VUS" "" "0000510009" "0" "30" "2" "167129256" "167129256" "subst" "0.0329574" "02327" "SCN9A_000052" "g.167129256C>A" "" "" "" "SCN9A(NM_002977.3):c.2971G>T (p.V991L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166272746C>A" "" "likely benign" "" "0000510010" "0" "30" "2" "167133460" "167133460" "subst" "3.70505E-5" "02327" "SCN9A_000202" "g.167133460G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166276950G>T" "" "likely benign" "" "0000510011" "0" "10" "2" "167133482" "167133483" "ins" "0.0144469" "02330" "SCN9A_000203" "g.167133482_167133483insAA" "" "" "" "SCN9A(NM_002977.3):c.2841+10_2841+11insTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166276972_166276973insAA" "" "benign" "" "0000510012" "0" "50" "2" "167133540" "167133540" "subst" "0.0365148" "02327" "SCN9A_000167" "g.167133540T>G" "" "" "" "SCN9A(NM_002977.3):c.2794A>C (p.M932L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166277030T>G" "" "VUS" "" "0000510013" "0" "70" "2" "167133767" "167133767" "subst" "0" "02327" "SCN9A_000084" "g.167133767C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166277257C>T" "" "likely pathogenic" "" "0000510014" "0" "30" "2" "167134622" "167134622" "subst" "4.2931E-6" "02327" "SCN9A_000204" "g.167134622T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166278112T>C" "" "likely benign" "" "0000510015" "0" "30" "2" "167134644" "167134644" "subst" "0.000982424" "02330" "SCN9A_000205" "g.167134644G>A" "" "" "" "SCN9A(NM_002977.3):c.2484+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166278134G>A" "" "likely benign" "" "0000510016" "0" "30" "2" "167134677" "167134677" "subst" "8.15947E-6" "02327" "SCN9A_000206" "g.167134677T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166278167T>G" "" "likely benign" "" "0000510017" "0" "50" "2" "167134706" "167134706" "subst" "0.000281284" "02327" "SCN9A_000207" "g.167134706C>T" "" "" "" "SCN9A(NM_002977.3):c.2428G>A (p.(Val810Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166278196C>T" "" "VUS" "" "0000510018" "0" "10" "2" "167134730" "167134730" "subst" "0.0027078" "02327" "SCN9A_000041" "g.167134730T>C" "" "" "" "SCN9A(NM_002977.3):c.2404A>G (p.S802G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166278220T>C" "" "benign" "" "0000510019" "0" "30" "2" "167134775" "167134775" "subst" "0.00185848" "02327" "SCN9A_000040" "g.167134775T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166278265T>C" "" "likely benign" "" "0000510020" "0" "30" "2" "167134843" "167134843" "subst" "0.000215454" "02327" "SCN9A_000208" "g.167134843T>A" "" "" "" "SCN9A(NM_002977.3):c.2311-20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166278333T>A" "" "likely benign" "" "0000510021" "0" "50" "2" "167136878" "167136878" "subst" "1.58608E-5" "02330" "SCN9A_000209" "g.167136878T>C" "" "" "" "SCN9A(NM_002977.3):c.2299A>G (p.I767V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166280368T>C" "" "VUS" "" "0000510023" "0" "50" "2" "167136911" "167136911" "subst" "0" "02327" "SCN9A_000211" "g.167136911G>T" "" "" "" "SCN9A(NM_001365536.1):c.2299C>A (p.(Pro767Thr)), SCN9A(NM_002977.3):c.2266C>A (p.P756T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166280401G>T" "" "VUS" "" "0000510024" "0" "10" "2" "167136962" "167136962" "subst" "0.00240118" "02330" "SCN9A_000037" "g.167136962T>C" "" "" "" "SCN1A-AS1(NR_110260.1):n.1029+3205T>C, SCN9A(NM_002977.3):c.2215A>G (p.I739V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166280452T>C" "" "benign" "" "0000510025" "0" "30" "2" "167136962" "167136962" "subst" "0.00240118" "02325" "SCN9A_000037" "g.167136962T>C" "" "" "" "SCN1A-AS1(NR_110260.1):n.1029+3205T>C, SCN9A(NM_002977.3):c.2215A>G (p.I739V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166280452T>C" "" "likely benign" "" "0000510026" "0" "50" "2" "167137018" "167137018" "subst" "0.000153248" "02330" "SCN9A_000212" "g.167137018A>T" "" "" "" "SCN9A(NM_001365536.1):c.2192T>A (p.(Ile731Lys)), SCN9A(NM_002977.3):c.2159T>A (p.I720K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166280508A>T" "" "VUS" "" "0000510027" "0" "50" "2" "167137018" "167137018" "subst" "0.000153248" "02326" "SCN9A_000212" "g.167137018A>T" "" "" "" "SCN9A(NM_001365536.1):c.2192T>A (p.(Ile731Lys)), SCN9A(NM_002977.3):c.2159T>A (p.I720K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166280508A>T" "" "VUS" "" "0000510028" "0" "30" "2" "167137020" "167137020" "subst" "0.000722205" "02327" "SCN9A_000213" "g.167137020C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166280510C>G" "" "likely benign" "" "0000510029" "0" "30" "2" "167137118" "167137118" "dup" "0" "02330" "SCN9A_000214" "g.167137118dup" "" "" "" "SCN9A(NM_002977.3):c.2072-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166280608dup" "" "likely benign" "" "0000510030" "0" "30" "2" "167138150" "167138150" "subst" "0" "02327" "SCN9A_000215" "g.167138150A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166281640A>G" "" "likely benign" "" "0000510031" "0" "50" "2" "167138227" "167138227" "subst" "0" "02327" "SCN9A_000216" "g.167138227G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166281717G>T" "" "VUS" "" "0000510032" "0" "10" "2" "167138296" "167138296" "subst" "0.00192926" "02330" "SCN9A_000033" "g.167138296T>C" "" "" "" "SCN9A(NM_002977.3):c.1964A>G (p.K655R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166281786T>C" "" "benign" "" "0000510034" "0" "10" "2" "167138330" "167138330" "dup" "0" "02330" "SCN9A_000144" "g.167138330dup" "" "" "" "SCN9A(NM_002977.3):c.1942-13delAinsAT, SCN9A(NM_002977.3):c.1942-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166281820dup" "" "benign" "" "0000510035" "0" "30" "2" "167138340" "167138340" "subst" "4.23528E-6" "02327" "SCN9A_000217" "g.167138340G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166281830G>A" "" "likely benign" "" "0000510036" "0" "50" "2" "167138345" "167138345" "subst" "5.14619E-5" "02327" "SCN9A_000218" "g.167138345A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166281835A>C" "" "VUS" "" "0000510037" "0" "30" "2" "167140963" "167140963" "subst" "0" "02327" "SCN9A_000219" "g.167140963G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166284453G>A" "" "likely benign" "" "0000510038" "0" "30" "2" "167141036" "167141036" "subst" "1.22335E-5" "02327" "SCN9A_000220" "g.167141036C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166284526C>T" "" "likely benign" "" "0000510039" "0" "30" "2" "167141056" "167141056" "subst" "0" "02330" "SCN9A_000221" "g.167141056C>T" "" "" "" "SCN9A(NM_002977.3):c.1881G>A (p.V627=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166284546C>T" "" "likely benign" "" "0000510040" "0" "70" "2" "167141070" "167141070" "subst" "0" "02327" "SCN9A_000222" "g.167141070C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166284560C>T" "" "likely pathogenic" "" "0000510041" "0" "30" "2" "167141099" "167141099" "subst" "0.00075224" "02327" "SCN9A_000223" "g.167141099G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166284589G>A" "" "likely benign" "" "0000510042" "0" "30" "2" "167141133" "167141133" "subst" "0" "02327" "SCN9A_000224" "g.167141133T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166284623T>C" "" "likely benign" "" "0000510043" "0" "50" "2" "167141246" "167141246" "subst" "1.21999E-5" "02327" "SCN9A_000225" "g.167141246A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166284736A>G" "" "VUS" "" "0000510044" "0" "30" "2" "167141348" "167141348" "subst" "0.000243156" "02327" "SCN9A_000226" "g.167141348A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166284838A>T" "" "likely benign" "" "0000510045" "0" "50" "2" "167142856" "167142856" "subst" "0" "02327" "SCN9A_000227" "g.167142856G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166286346G>T" "" "VUS" "" "0000510046" "0" "50" "2" "167142896" "167142896" "subst" "4.06415E-6" "02327" "SCN9A_000228" "g.167142896C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166286386C>A" "" "VUS" "" "0000510047" "0" "30" "2" "167142984" "167142984" "subst" "0.000422922" "02330" "SCN9A_000229" "g.167142984G>A" "" "" "" "SCN9A(NM_002977.3):c.1464C>T (p.L488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166286474G>A" "" "likely benign" "" "0000510049" "0" "10" "2" "167145106" "167145106" "subst" "0.0149424" "02327" "SCN9A_000147" "g.167145106C>A" "" "" "" "SCN9A(NM_002977.3):c.1155G>T (p.V385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166288596C>A" "" "benign" "" "0000510050" "0" "50" "2" "167149841" "167149841" "subst" "0" "02327" "SCN9A_000230" "g.167149841T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166293331T>G" "" "VUS" "" "0000510051" "0" "30" "2" "167149890" "167149890" "subst" "8.82106E-5" "02327" "SCN9A_000231" "g.167149890C>T" "" "" "" "SCN9A(NM_002977.3):c.966-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166293380C>T" "" "likely benign" "" "0000510052" "0" "30" "2" "167151096" "167151096" "subst" "0.000131989" "02327" "SCN9A_000232" "g.167151096A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166294586A>G" "" "likely benign" "" "0000510053" "0" "30" "2" "167159625" "167159625" "subst" "0" "02327" "SCN9A_000233" "g.167159625G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166303115G>A" "" "likely benign" "" "0000510054" "0" "10" "2" "167160735" "167160735" "subst" "0.0479712" "02330" "SCN9A_000080" "g.167160735A>G" "" "" "" "SCN9A(NM_002977.3):c.688+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166304225A>G" "" "benign" "" "0000510056" "0" "50" "2" "167160752" "167160752" "subst" "0.000920076" "02325" "SCN9A_000018" "g.167160752G>C" "" "" "" "SCN9A(NM_002977.3):c.684C>G (p.I228M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166304242G>C" "" "VUS" "" "0000510057" "0" "30" "2" "167160752" "167160752" "subst" "0.000920076" "02326" "SCN9A_000018" "g.167160752G>C" "" "" "" "SCN9A(NM_002977.3):c.684C>G (p.I228M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166304242G>C" "" "likely benign" "" "0000510058" "0" "50" "2" "167160817" "167160817" "subst" "0" "02327" "SCN9A_000234" "g.167160817G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166304307G>C" "" "VUS" "" "0000510059" "0" "50" "2" "167160837" "167160837" "subst" "9.77318E-5" "02327" "SCN9A_000235" "g.167160837T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166304327T>C" "" "VUS" "" "0000510060" "0" "10" "2" "167162344" "167162344" "subst" "0.00284574" "02330" "SCN9A_000150" "g.167162344C>T" "" "" "" "SCN9A(NM_002977.3):c.554G>A (p.R185H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166305834C>T" "" "benign" "" "0000510061" "0" "50" "2" "167162344" "167162344" "subst" "0.00284574" "02327" "SCN9A_000150" "g.167162344C>T" "" "" "" "SCN9A(NM_002977.3):c.554G>A (p.R185H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166305834C>T" "" "VUS" "" "0000510062" "0" "30" "2" "167163022" "167163022" "subst" "0" "02327" "SCN9A_000236" "g.167163022G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166306512G>A" "" "likely benign" "" "0000510063" "0" "50" "2" "167163482" "167163482" "subst" "0.000180146" "02327" "SCN9A_000152" "g.167163482T>G" "" "" "" "SCN9A(NM_002977.3):c.361A>C (p.K121Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166306972T>G" "" "VUS" "" "0000510064" "0" "50" "2" "167168149" "167168149" "subst" "2.8434E-5" "02327" "SCN9A_000237" "g.167168149T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166311639T>C" "" "VUS" "" "0000510065" "0" "50" "2" "167168190" "167168190" "subst" "0" "02327" "SCN9A_000238" "g.167168190C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166311680C>A" "" "VUS" "" "0000604479" "0" "50" "2" "167055561" "167055561" "subst" "4.06062E-6" "03512" "SCN9A_000239" "g.167055561A>C" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.166199051A>C" "" "VUS" "" "0000606231" "0" "10" "2" "167060988" "167060991" "del" "0" "02327" "SCN9A_000088" "g.167060988_167060991del" "" "" "" "SCN1A-AS1(NR_110260.1):n.611+4660_611+4663delCAAA, SCN9A(NM_002977.3):c.4366-10_4366-7delGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166204478_166204481del" "" "benign" "" "0000606232" "0" "30" "2" "167083160" "167083160" "subst" "0.0015724" "02327" "SCN9A_000184" "g.167083160C>T" "" "" "" "SCN9A(NM_002977.3):c.4282G>A (p.V1428I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166226650C>T" "" "likely benign" "" "0000606233" "0" "30" "2" "167083161" "167083161" "subst" "0.00119698" "02326" "SCN9A_000185" "g.167083161G>A" "" "" "" "SCN9A(NM_002977.3):c.4281C>T (p.V1427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166226651G>A" "" "likely benign" "" "0000606234" "0" "30" "2" "167084210" "167084210" "subst" "0" "02327" "SCN9A_000240" "g.167084210A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166227700A>G" "" "likely benign" "" "0000606235" "0" "50" "2" "167089905" "167089905" "subst" "0" "02327" "SCN9A_000241" "g.167089905C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166233395C>G" "" "VUS" "" "0000606236" "0" "30" "2" "167108327" "167108327" "subst" "1.63139E-5" "02327" "SCN9A_000100" "g.167108327T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166251817T>A" "" "likely benign" "" "0000606237" "0" "30" "2" "167129053" "167129053" "subst" "0.000130262" "02327" "SCN9A_000125" "g.167129053G>A" "" "" "" "SCN9A(NM_002977.3):c.3174C>T (p.H1058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166272543G>A" "" "likely benign" "" "0000606238" "0" "30" "2" "167129119" "167129119" "subst" "4.07352E-6" "02327" "SCN9A_000242" "g.167129119G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166272609G>A" "" "likely benign" "" "0000606239" "0" "30" "2" "167129405" "167129405" "subst" "4.93299E-5" "02327" "SCN9A_000243" "g.167129405G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166272895G>C" "" "likely benign" "" "0000606240" "0" "50" "2" "167136962" "167136962" "subst" "0.00240118" "02327" "SCN9A_000037" "g.167136962T>C" "" "" "" "SCN1A-AS1(NR_110260.1):n.1029+3205T>C, SCN9A(NM_002977.3):c.2215A>G (p.I739V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166280452T>C" "" "VUS" "" "0000606241" "0" "50" "2" "167137018" "167137018" "subst" "0.000153248" "02327" "SCN9A_000212" "g.167137018A>T" "" "" "" "SCN9A(NM_001365536.1):c.2192T>A (p.(Ile731Lys)), SCN9A(NM_002977.3):c.2159T>A (p.I720K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166280508A>T" "" "VUS" "" "0000606242" "0" "30" "2" "167138286" "167138286" "subst" "1.22257E-5" "02327" "SCN9A_000244" "g.167138286A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166281776A>G" "" "likely benign" "" "0000606243" "0" "30" "2" "167138296" "167138296" "subst" "0.00192926" "02327" "SCN9A_000033" "g.167138296T>C" "" "" "" "SCN9A(NM_002977.3):c.1964A>G (p.K655R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166281786T>C" "" "likely benign" "" "0000606244" "0" "10" "2" "167141109" "167141109" "subst" "0.0241216" "02327" "SCN9A_000030" "g.167141109G>T" "" "" "" "SCN9A(NM_002977.3):c.1828C>A (p.P610T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166284599G>T" "" "benign" "" "0000606245" "0" "30" "2" "167142893" "167142893" "subst" "0.00045945" "02327" "SCN9A_000029" "g.167142893C>T" "" "" "" "SCN9A(NM_002977.3):c.1555G>A (p.E519K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166286383C>T" "" "likely benign" "" "0000606246" "0" "30" "2" "167142951" "167142951" "subst" "0" "02327" "SCN9A_000245" "g.167142951T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166286441T>C" "" "likely benign" "" "0000606247" "0" "10" "2" "167142979" "167142979" "subst" "0.0150897" "02327" "SCN9A_000028" "g.167142979C>T" "" "" "" "SCN9A(NM_002977.3):c.1469G>A (p.S490N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166286469C>T" "" "benign" "" "0000606248" "0" "30" "2" "167143050" "167143050" "subst" "0.00302389" "02326" "SCN9A_000146" "g.167143050G>A" "" "" "" "SCN9A(NM_002977.3):c.1398C>T (p.S466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166286540G>A" "" "likely benign" "" "0000606249" "0" "30" "2" "167143050" "167143050" "subst" "0.00302389" "02327" "SCN9A_000146" "g.167143050G>A" "" "" "" "SCN9A(NM_002977.3):c.1398C>T (p.S466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166286540G>A" "" "likely benign" "" "0000606250" "0" "30" "2" "167143117" "167143117" "subst" "0" "02327" "SCN9A_000246" "g.167143117G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166286607G>A" "" "likely benign" "" "0000606251" "0" "30" "2" "167160752" "167160752" "subst" "0.000920076" "02330" "SCN9A_000018" "g.167160752G>C" "" "" "" "SCN9A(NM_002977.3):c.684C>G (p.I228M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166304242G>C" "" "likely benign" "" "0000606252" "0" "30" "2" "167168063" "167168063" "subst" "0" "02327" "SCN9A_000248" "g.167168063G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166311553G>A" "" "likely benign" "" "0000606253" "0" "50" "2" "167168190" "167168190" "subst" "1.21914E-5" "02327" "SCN9A_000249" "g.167168190C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166311680C>G" "" "VUS" "" "0000620765" "0" "50" "2" "167060610" "167060610" "subst" "4.08013E-6" "02330" "SCN9A_000172" "g.167060610C>T" "" "" "" "SCN9A(NM_002977.3):c.4596G>A (p.M1532I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166204100C>T" "" "VUS" "" "0000620766" "0" "30" "2" "167083161" "167083161" "subst" "0.00119698" "02330" "SCN9A_000185" "g.167083161G>A" "" "" "" "SCN9A(NM_002977.3):c.4281C>T (p.V1427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166226651G>A" "" "likely benign" "" "0000620767" "0" "50" "2" "167136911" "167136911" "subst" "0" "01943" "SCN9A_000211" "g.167136911G>T" "" "" "" "SCN9A(NM_001365536.1):c.2299C>A (p.(Pro767Thr)), SCN9A(NM_002977.3):c.2266C>A (p.P756T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166280401G>T" "" "VUS" "" "0000620768" "0" "30" "2" "167160739" "167160739" "subst" "0.000179238" "02330" "SCN9A_000247" "g.167160739A>G" "" "" "" "SCN9A(NM_002977.3):c.688+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166304229A>G" "" "likely benign" "" "0000631923" "3" "90" "2" "167060873" "167060873" "del" "0" "01807" "SCN9A_000250" "g.167060873del" "" "" "" "4467delA" "" "Unknown" "" "" "0" "" "" "g.166204363del" "" "pathogenic" "" "0000650193" "1" "50" "2" "167055438" "167055438" "subst" "0.000353308" "03575" "SCN9A_000068" "g.167055438C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs79805025}" "Germline" "" "rs79805025" "0" "" "" "g.166198928C>T" "" "VUS" "" "0000650194" "1" "50" "2" "167094638" "167094638" "subst" "0.00443507" "03575" "SCN9A_000162" "g.167094638T>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs141268327}" "Germline" "" "rs141268327" "0" "" "" "g.166238128T>C" "" "VUS" "" "0000650195" "1" "30" "2" "167134775" "167134775" "subst" "0.00185848" "03575" "SCN9A_000040" "g.167134775T>C" "57/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "57 heterozygous; {DB:CLININrs149707354}" "Germline" "" "rs149707354" "0" "" "" "g.166278265T>C" "" "likely benign" "" "0000650196" "1" "50" "2" "167136962" "167136962" "subst" "0.00240118" "03575" "SCN9A_000037" "g.167136962T>C" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs182650126}" "Germline" "" "rs182650126" "0" "" "" "g.166280452T>C" "" "VUS" "" "0000650197" "1" "50" "2" "167137018" "167137018" "subst" "0.000153248" "03575" "SCN9A_000212" "g.167137018A>T" "1/2776 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs200945460}" "Germline" "" "rs200945460" "0" "" "" "g.166280508A>T" "" "VUS" "" "0000650198" "1" "30" "2" "167141109" "167141109" "subst" "0.0241216" "03575" "SCN9A_000030" "g.167141109G>T" "60/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "60 heterozygous; {DB:CLININrs41268673}" "Germline" "" "rs41268673" "0" "" "" "g.166284599G>T" "" "likely benign" "" "0000650199" "1" "50" "2" "167145152" "167145152" "subst" "0.000389832" "03575" "SCN9A_000251" "g.167145152G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200391162}" "Germline" "" "rs200391162" "0" "" "" "g.166288642G>A" "" "VUS" "" "0000650200" "1" "30" "2" "167162344" "167162344" "subst" "0.00284574" "03575" "SCN9A_000150" "g.167162344C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs73969684}" "Germline" "" "rs73969684" "0" "" "" "g.166305834C>T" "" "likely benign" "" "0000654247" "0" "50" "2" "167055204" "167055204" "subst" "8.88934E-5" "02327" "SCN9A_000252" "g.167055204T>A" "" "" "" "SCN9A(NM_002977.3):c.5912A>T (p.D1971V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166198694T>A" "" "VUS" "" "0000654248" "0" "30" "2" "167055399" "167055399" "subst" "8.12341E-6" "02327" "SCN9A_000253" "g.167055399A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166198889A>G" "" "likely benign" "" "0000654249" "0" "50" "2" "167056104" "167056104" "subst" "4.06055E-6" "02327" "SCN9A_000254" "g.167056104T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166199594T>G" "" "VUS" "" "0000654250" "0" "30" "2" "167060571" "167060571" "subst" "8.1672E-6" "02327" "SCN9A_000255" "g.167060571G>T" "" "" "" "SCN9A(NM_002977.3):c.4635C>A (p.I1545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166204061G>T" "" "likely benign" "" "0000654251" "0" "30" "2" "167060594" "167060594" "subst" "0.00203265" "02326" "SCN9A_000086" "g.167060594A>G" "" "" "" "SCN9A(NM_002977.3):c.4612T>C (p.W1538R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166204084A>G" "" "likely benign" "" "0000654252" "0" "30" "2" "167083160" "167083160" "subst" "0.0015724" "01943" "SCN9A_000184" "g.167083160C>T" "" "" "" "SCN9A(NM_002977.3):c.4282G>A (p.V1428I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166226650C>T" "" "likely benign" "" "0000654253" "0" "30" "2" "167083161" "167083161" "subst" "0.00119698" "02327" "SCN9A_000185" "g.167083161G>A" "" "" "" "SCN9A(NM_002977.3):c.4281C>T (p.V1427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166226651G>A" "" "likely benign" "" "0000654254" "0" "30" "2" "167083182" "167083182" "subst" "0" "02330" "SCN9A_000256" "g.167083182G>A" "" "" "" "SCN9A(NM_002977.3):c.4260C>T (p.L1420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166226672G>A" "" "likely benign" "" "0000654255" "0" "30" "2" "167094721" "167094721" "subst" "0.000696081" "02327" "SCN9A_000257" "g.167094721A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166238211A>G" "" "likely benign" "" "0000654256" "0" "30" "2" "167108268" "167108268" "subst" "0" "02327" "SCN9A_000258" "g.167108268G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166251758G>T" "" "likely benign" "" "0000654257" "0" "30" "2" "167129258" "167129258" "subst" "0.000622567" "02327" "SCN9A_000103" "g.167129258T>C" "" "" "" "SCN9A(NM_002977.3):c.2969A>G (p.Y990C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166272748T>C" "" "likely benign" "" "0000654258" "0" "50" "2" "167134700" "167134700" "subst" "0" "02327" "SCN9A_000136" "g.167134700G>C" "" "" "" "SCN9A(NM_002977.3):c.2434C>G (p.L812V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166278190G>C" "" "VUS" "" "0000654259" "0" "30" "2" "167134843" "167134843" "subst" "0.000215454" "02326" "SCN9A_000208" "g.167134843T>A" "" "" "" "SCN9A(NM_002977.3):c.2311-20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166278333T>A" "" "likely benign" "" "0000654260" "0" "30" "2" "167138313" "167138313" "subst" "0.000348211" "02327" "SCN9A_000259" "g.167138313C>T" "" "" "" "SCN9A(NM_002977.3):c.1947G>A (p.T649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166281803C>T" "" "likely benign" "" "0000654261" "0" "30" "2" "167141062" "167141062" "subst" "1.22121E-5" "02327" "SCN9A_000260" "g.167141062G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166284552G>A" "" "likely benign" "" "0000654262" "0" "30" "2" "167143122" "167143122" "subst" "0.000246032" "02327" "SCN9A_000261" "g.167143122C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166286612C>T" "" "likely benign" "" "0000654263" "0" "50" "2" "167143130" "167143130" "subst" "0" "02330" "SCN9A_000262" "g.167143130T>C" "" "" "" "SCN9A(NM_002977.3):c.1318A>G (p.I440V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166286620T>C" "" "VUS" "" "0000654264" "0" "30" "2" "167145084" "167145084" "subst" "0.000207863" "02327" "SCN9A_000263" "g.167145084G>A" "" "" "" "SCN9A(NM_002977.3):c.1177C>T (p.L393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166288574G>A" "" "likely benign" "" "0000654265" "0" "50" "2" "167159705" "167159705" "subst" "0" "02327" "SCN9A_000264" "g.167159705G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166303195G>T" "" "VUS" "" "0000654266" "0" "30" "2" "167160781" "167160781" "subst" "0" "02327" "SCN9A_000265" "g.167160781A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166304271A>G" "" "likely benign" "" "0000654267" "0" "50" "2" "167163030" "167163030" "subst" "0" "01943" "SCN9A_000266" "g.167163030T>G" "" "" "" "SCN9A(NM_002977.3):c.457A>C (p.K153Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166306520T>G" "" "VUS" "" "0000654268" "0" "30" "2" "167168015" "167168015" "subst" "2.1774E-5" "02327" "SCN9A_000267" "g.167168015G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166311505G>A" "" "likely benign" "" "0000654269" "0" "30" "2" "167168027" "167168027" "subst" "0.000114535" "02327" "SCN9A_000268" "g.167168027G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166311517G>A" "" "likely benign" "" "0000654270" "0" "30" "2" "167168138" "167168138" "subst" "0.000402168" "02326" "SCN9A_000170" "g.167168138A>G" "" "" "" "SCN9A(NM_002977.3):c.129T>C (p.D43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166311628A>G" "" "likely benign" "" "0000654271" "0" "30" "2" "167168138" "167168138" "subst" "0.000402168" "02327" "SCN9A_000170" "g.167168138A>G" "" "" "" "SCN9A(NM_002977.3):c.129T>C (p.D43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166311628A>G" "" "likely benign" "" "0000664036" "0" "90" "2" "167137018" "167137018" "subst" "0.000153248" "00006" "SCN9A_000212" "g.167137018A>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs200945460" "0" "" "" "g.166280508A>T" "" "pathogenic" "" "0000664037" "0" "90" "2" "167143072" "167143072" "subst" "0" "00006" "SCN9A_000027" "g.167143072G>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs121908908" "0" "" "" "g.166286562G>C" "" "pathogenic (recessive)" "" "0000664105" "0" "70" "2" "167129291" "167129291" "del" "0" "00006" "SCN9A_000269" "g.167129291del" "" "{PMID:Antoniadi 2015:26392352}" "" "c.2937delT" "" "Germline" "" "" "0" "" "" "g.166272781del" "" "likely pathogenic" "" "0000664137" "0" "90" "2" "167143072" "167143072" "subst" "0" "00006" "SCN9A_000027" "g.167143072G>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs121908908" "0" "" "" "g.166286562G>C" "" "pathogenic (recessive)" "" "0000669523" "3" "30" "2" "167134775" "167134775" "subst" "0.00185848" "03575" "SCN9A_000040" "g.167134775T>C" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs149707354}" "Germline" "" "rs149707354" "0" "" "" "g.166278265T>C" "" "likely benign" "" "0000669524" "3" "30" "2" "167141109" "167141109" "subst" "0.0241216" "03575" "SCN9A_000030" "g.167141109G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs41268673}" "Germline" "" "rs41268673" "0" "" "" "g.166284599G>T" "" "likely benign" "" "0000676086" "0" "30" "2" "167055193" "167055193" "subst" "4.43853E-5" "02327" "SCN9A_000270" "g.167055193T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676087" "0" "30" "2" "167056226" "167056226" "subst" "0.000341095" "02327" "SCN9A_000271" "g.167056226A>G" "" "" "" "SCN9A(NM_002977.3):c.4890T>C (p.L1630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676088" "0" "50" "2" "167056302" "167056302" "subst" "4.06062E-6" "02327" "SCN9A_000272" "g.167056302C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676089" "0" "30" "2" "167060584" "167060584" "subst" "0" "02327" "SCN9A_000273" "g.167060584A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676090" "0" "30" "2" "167060990" "167060991" "ins" "0.000969853" "02327" "SCN9A_000274" "g.167060990_167060991insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676091" "0" "50" "2" "167083154" "167083154" "subst" "0" "01804" "SCN9A_000275" "g.167083154T>C" "" "" "" "SCN9A(NM_002977.3):c.4288A>G (p.(Ile1430Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676092" "0" "30" "2" "167108326" "167108326" "subst" "0" "02327" "SCN9A_000276" "g.167108326C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676093" "0" "50" "2" "167128967" "167128967" "subst" "0" "02330" "SCN9A_000277" "g.167128967A>T" "" "" "" "SCN9A(NM_002977.3):c.3260T>A (p.L1087*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676094" "0" "30" "2" "167145151" "167145151" "subst" "0.00012219" "02327" "SCN9A_000148" "g.167145151C>T" "" "" "" "SCN9A(NM_002977.3):c.1110G>A (p.T370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676095" "0" "30" "2" "167149890" "167149890" "subst" "8.82106E-5" "02330" "SCN9A_000231" "g.167149890C>T" "" "" "" "SCN9A(NM_002977.3):c.966-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676096" "0" "50" "2" "167163472" "167163472" "subst" "0" "02327" "SCN9A_000278" "g.167163472A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684741" "0" "30" "2" "167162344" "167162344" "subst" "0.00284574" "00004" "SCN9A_000150" "g.167162344C>T" "frequency 0.023" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.166305834C>T" "" "likely benign" "" "0000688374" "0" "50" "2" "167055645" "167055645" "subst" "2.03031E-5" "01943" "SCN9A_000279" "g.167055645C>T" "" "" "" "SCN9A(NM_002977.3):c.5471G>A (p.R1824Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688375" "0" "50" "2" "167055706" "167055706" "subst" "0" "02327" "SCN9A_000280" "g.167055706T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688376" "0" "30" "2" "167083110" "167083110" "subst" "3.02726E-5" "02327" "SCN9A_000281" "g.167083110G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688377" "0" "50" "2" "167083139" "167083139" "subst" "0" "02330" "SCN9A_000282" "g.167083139A>T" "" "" "" "SCN9A(NM_002977.3):c.4303T>A (p.F1435I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688378" "0" "50" "2" "167137018" "167137018" "subst" "0.000153248" "01943" "SCN9A_000212" "g.167137018A>T" "" "" "" "SCN9A(NM_001365536.1):c.2192T>A (p.(Ile731Lys)), SCN9A(NM_002977.3):c.2159T>A (p.I720K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000712955" "0" "90" "2" "167085324" "167085324" "del" "4.06108E-6" "01807" "SCN9A_000283" "g.167085324del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.166228814del" "" "pathogenic" "" "0000712956" "0" "50" "2" "167137097" "167137097" "subst" "0" "01807" "SCN9A_000284" "g.167137097C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000717955" "0" "50" "2" "167055204" "167055204" "subst" "8.88934E-5" "02329" "SCN9A_000252" "g.167055204T>A" "" "" "" "SCN9A(NM_002977.3):c.5912A>T (p.D1971V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717956" "0" "10" "2" "167089980" "167089980" "subst" "0.00515161" "02330" "SCN9A_000121" "g.167089980A>G" "" "" "" "SCN9A(NM_002977.3):c.3769-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717957" "0" "30" "2" "167108345" "167108345" "subst" "0.000432452" "02327" "SCN9A_000054" "g.167108345C>A" "" "" "" "SCN9A(NM_002977.3):c.3369G>T (p.L1123F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717958" "0" "30" "2" "167129032" "167129032" "subst" "0.000146631" "02327" "SCN9A_000285" "g.167129032A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717959" "0" "50" "2" "167137044" "167137044" "subst" "1.87191E-5" "02327" "SCN9A_000286" "g.167137044C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717960" "0" "30" "2" "167138296" "167138296" "subst" "0.00192926" "02326" "SCN9A_000033" "g.167138296T>C" "" "" "" "SCN9A(NM_002977.3):c.1964A>G (p.K655R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717961" "0" "50" "2" "167144944" "167144944" "subst" "3.26712E-5" "02327" "SCN9A_000287" "g.167144944T>A" "" "" "" "SCN9A(NM_002977.3):c.1314+3A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717962" "0" "30" "2" "167159672" "167159672" "subst" "1.22916E-5" "02327" "SCN9A_000288" "g.167159672G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717963" "0" "30" "2" "167159684" "167159684" "subst" "0" "02327" "SCN9A_000289" "g.167159684G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717964" "0" "50" "2" "167162340" "167162340" "subst" "0" "02325" "SCN9A_000290" "g.167162340G>T" "" "" "" "SCN9A(NM_002977.3):c.558C>A (p.D186E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717965" "0" "10" "2" "167163043" "167163043" "subst" "0.628383" "02326" "SCN9A_000009" "g.167163043T>C" "" "" "" "SCN9A(NM_002977.3):c.444A>G (p.P148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000787173" "0" "50" "2" "167163041" "167163041" "subst" "0" "00006" "SCN9A_000292" "g.167163041G>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.166306531G>C" "" "VUS" "" "0000787390" "0" "50" "2" "167056154" "167056154" "subst" "0" "00006" "SCN9A_000291" "g.167056154G>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.166199644G>T" "" "VUS" "" "0000787510" "0" "50" "2" "167162344" "167162344" "subst" "0.00284574" "00000" "SCN9A_000150" "g.167162344C>T" "" "0" "" "" "" "Germline" "" "rs73969684" "0" "" "" "g.166305834C>T" "{CV-RCV:000459981.3}" "VUS" "" "0000799783" "0" "30" "2" "167060924" "167060924" "subst" "0" "02330" "SCN9A_000299" "g.167060924A>G" "" "" "" "SCN9A(NM_002977.3):c.4416T>C (p.N1472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799784" "0" "50" "2" "167089942" "167089942" "subst" "0.00116983" "02325" "SCN9A_000155" "g.167089942G>C" "" "" "" "SCN9A(NM_002977.3):c.3799C>G (p.L1267V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799785" "0" "50" "2" "167108345" "167108345" "subst" "0.000432452" "02330" "SCN9A_000054" "g.167108345C>A" "" "" "" "SCN9A(NM_002977.3):c.3369G>T (p.L1123F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799786" "0" "50" "2" "167136878" "167136878" "subst" "1.58608E-5" "02325" "SCN9A_000209" "g.167136878T>C" "" "" "" "SCN9A(NM_002977.3):c.2299A>G (p.I767V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799787" "0" "50" "2" "167137018" "167137018" "subst" "0.000153248" "02325" "SCN9A_000212" "g.167137018A>T" "" "" "" "SCN9A(NM_001365536.1):c.2192T>A (p.(Ile731Lys)), SCN9A(NM_002977.3):c.2159T>A (p.I720K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799788" "0" "30" "2" "167138296" "167138296" "subst" "0.00192926" "01943" "SCN9A_000033" "g.167138296T>C" "" "" "" "SCN9A(NM_002977.3):c.1964A>G (p.K655R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799789" "0" "50" "2" "167141250" "167141250" "subst" "0" "02327" "SCN9A_000300" "g.167141250C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849032" "0" "50" "2" "167055582" "167055582" "subst" "4.06058E-6" "02327" "SCN9A_000302" "g.167055582A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849033" "0" "10" "2" "167055904" "167055904" "subst" "0.000450761" "02330" "SCN9A_000303" "g.167055904G>A" "" "" "" "SCN9A(NM_002977.3):c.5212C>T (p.L1738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849034" "0" "30" "2" "167056226" "167056226" "subst" "0.000341095" "02326" "SCN9A_000271" "g.167056226A>G" "" "" "" "SCN9A(NM_002977.3):c.4890T>C (p.L1630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849035" "0" "30" "2" "167128911" "167128911" "subst" "9.10983E-5" "02327" "SCN9A_000102" "g.167128911C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849036" "0" "50" "2" "167133838" "167133838" "subst" "0" "02327" "SCN9A_000305" "g.167133838G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849037" "0" "30" "2" "167134644" "167134644" "subst" "0.000982424" "02327" "SCN9A_000205" "g.167134644G>A" "" "" "" "SCN9A(NM_002977.3):c.2484+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849038" "0" "50" "2" "167136911" "167136911" "subst" "0" "02330" "SCN9A_000211" "g.167136911G>T" "" "" "" "SCN9A(NM_001365536.1):c.2299C>A (p.(Pro767Thr)), SCN9A(NM_002977.3):c.2266C>A (p.P756T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849039" "0" "30" "2" "167138208" "167138208" "subst" "6.51105E-5" "02327" "SCN9A_000035" "g.167138208T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849040" "0" "30" "2" "167138313" "167138313" "subst" "0.000348211" "02330" "SCN9A_000259" "g.167138313C>T" "" "" "" "SCN9A(NM_002977.3):c.1947G>A (p.T649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849041" "0" "50" "2" "167141258" "167141258" "subst" "0" "02330" "SCN9A_000306" "g.167141258C>T" "" "" "" "SCN9A(NM_002977.3):c.1679G>A (p.R560K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849042" "0" "30" "2" "167143001" "167143001" "subst" "0" "02327" "SCN9A_000307" "g.167143001T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849043" "0" "10" "2" "167143050" "167143050" "subst" "0.00302389" "02330" "SCN9A_000146" "g.167143050G>A" "" "" "" "SCN9A(NM_002977.3):c.1398C>T (p.S466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849044" "0" "10" "2" "167162344" "167162344" "subst" "0.00284574" "02325" "SCN9A_000150" "g.167162344C>T" "" "" "" "SCN9A(NM_002977.3):c.554G>A (p.R185H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849045" "0" "30" "2" "167168084" "167168084" "subst" "0" "02327" "SCN9A_000308" "g.167168084G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849046" "0" "50" "2" "167168263" "167168263" "subst" "4.12729E-6" "02330" "SCN9A_000309" "g.167168263C>T" "" "" "" "SCN9A(NM_002977.3):c.4G>A (p.A2T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857837" "0" "50" "2" "167055477" "167055477" "subst" "0" "02327" "SCN9A_000301" "g.167055477A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857838" "0" "30" "2" "167060571" "167060571" "subst" "8.1672E-6" "02326" "SCN9A_000255" "g.167060571G>T" "" "" "" "SCN9A(NM_002977.3):c.4635C>A (p.I1545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857839" "0" "30" "2" "167083160" "167083160" "subst" "0.0015724" "02326" "SCN9A_000184" "g.167083160C>T" "" "" "" "SCN9A(NM_002977.3):c.4282G>A (p.V1428I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857840" "0" "30" "2" "167099130" "167099130" "subst" "0.000403169" "02327" "SCN9A_000304" "g.167099130A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873566" "0" "70" "2" "167084234" "167084234" "subst" "0" "00000" "SCN9A_000310" "g.167084234C>G" "191" "{PMID:Sun 2018:30076350}" "" "SCN9A(NM_002977.3):c.4174-1G>C" "single heterozygous variant in a recessive disease gene" "Germline/De novo (untested)" "?" "" "0" "" "" "g.166227724C>G" "" "likely pathogenic" "" "0000873567" "0" "70" "2" "167159651" "167159651" "del" "0" "00000" "SCN9A_000313" "g.167159651del" "192" "{PMID:Sun 2018:30076350}" "" "SCN9A(NM_002977.3):c.850delG(p.E284Kfs*3)/c.129_141delTGAAGAAGCCCCA(p.D43Efs*43)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.166303141del" "" "likely pathogenic" "" "0000873568" "0" "70" "2" "167168127" "167168139" "del" "0" "00000" "SCN9A_000315" "g.167168127_167168139del" "192" "{PMID:Sun 2018:30076350}" "" "SCN9A(NM_002977.3):c.850delG(p.E284Kfs*3)/c.129_141delTGAAGAAGCCCCA(p.D43Efs*43)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.166311617_166311629del" "" "likely pathogenic" "" "0000873569" "0" "70" "2" "167163547" "167163547" "subst" "4.0708E-6" "00000" "SCN9A_000314" "g.167163547C>T" "193" "{PMID:Sun 2018:30076350}" "" "SCN9A(NM_002977.3):c.296G>A(p.R99H)/c.2749T>G(p.W917G)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.166307037C>T" "" "likely pathogenic" "" "0000873570" "0" "70" "2" "167133585" "167133585" "subst" "0" "00000" "SCN9A_000311" "g.167133585A>C" "193" "{PMID:Sun 2018:30076350}" "" "SCN9A(NM_002977.3):c.296G>A(p.R99H)/c.2749T>G(p.W917G)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.166277075A>C" "" "likely pathogenic" "" "0000873571" "0" "70" "2" "167133637" "167133637" "subst" "4.06607E-6" "00000" "SCN9A_000312" "g.167133637C>T" "194" "{PMID:Sun 2018:30076350}" "" "SCN9A(NM_002977.3):c.2697G>A(p.M899I)" "single heterozygous variant in a recessive disease gene" "Germline/De novo (untested)" "?" "" "0" "" "" "g.166277127C>T" "" "likely pathogenic" "" "0000874685" "3" "70" "2" "167099103" "167099103" "subst" "0" "00000" "SCN9A_000099" "g.167099103C>T" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "SCN9A, NM_002977.3, c.3503G>A, p.Trp1168*" "homozygous" "Unknown" "?" "" "0" "" "" "g.166242593C>T" "" "likely pathogenic" "ACMG" "0000883875" "0" "30" "2" "167055290" "167055290" "subst" "0" "02327" "SCN9A_000316" "g.167055290G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883876" "0" "30" "2" "167055438" "167055438" "subst" "0.000353308" "02327" "SCN9A_000068" "g.167055438C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883877" "0" "30" "2" "167055904" "167055904" "subst" "0.000450761" "02326" "SCN9A_000303" "g.167055904G>A" "" "" "" "SCN9A(NM_002977.3):c.5212C>T (p.L1738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883878" "0" "30" "2" "167056226" "167056226" "subst" "0.000341095" "02330" "SCN9A_000271" "g.167056226A>G" "" "" "" "SCN9A(NM_002977.3):c.4890T>C (p.L1630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883879" "0" "50" "2" "167056315" "167056315" "subst" "0" "02327" "SCN9A_000317" "g.167056315T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883881" "0" "30" "2" "167083170" "167083170" "subst" "8.0191E-5" "02327" "SCN9A_000318" "g.167083170A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883882" "0" "30" "2" "167085348" "167085348" "subst" "8.12222E-6" "02327" "SCN9A_000319" "g.167085348G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883883" "0" "30" "2" "167094624" "167094624" "subst" "0" "02327" "SCN9A_000320" "g.167094624G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883884" "0" "30" "2" "167129209" "167129209" "subst" "0.000383831" "02330" "SCN9A_000201" "g.167129209C>G" "" "" "" "SCN9A(NM_002977.3):c.3018G>C (p.K1006N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883885" "0" "50" "2" "167134699" "167134699" "subst" "0" "02327" "SCN9A_000321" "g.167134699A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883886" "0" "10" "2" "167138330" "167138330" "dup" "0" "02326" "SCN9A_000144" "g.167138330dup" "" "" "" "SCN9A(NM_002977.3):c.1942-13delAinsAT, SCN9A(NM_002977.3):c.1942-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883887" "0" "10" "2" "167140954" "167140954" "subst" "0.00590665" "02330" "SCN9A_000322" "g.167140954C>T" "" "" "" "SCN9A(NM_002977.3):c.1941+42G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883888" "0" "30" "2" "167141269" "167141269" "subst" "0" "02327" "SCN9A_000323" "g.167141269A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883889" "0" "30" "2" "167142894" "167142894" "subst" "5.69226E-5" "02330" "SCN9A_000324" "g.167142894G>A" "" "" "" "SCN9A(NM_002977.3):c.1554C>T (p.V518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883890" "0" "50" "2" "167145054" "167145054" "subst" "1.62843E-5" "01804" "SCN9A_000325" "g.167145054T>G" "" "" "" "SCN9A(NM_001365536.1):c.1207A>C (p.(Met403Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883891" "0" "30" "2" "167149795" "167149795" "subst" "8.93376E-6" "02327" "SCN9A_000326" "g.167149795G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883892" "0" "30" "2" "167163097" "167163097" "subst" "0" "02327" "SCN9A_000327" "g.167163097C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908546" "11" "50" "2" "167141106" "167141106" "subst" "0" "00006" "SCN9A_000328" "g.167141106T>G" "" "{PMID:Zhou 2018:29314583}" "" "M611L" "" "Germline" "" "" "0" "" "" "g.166284596T>G" "" "VUS" "ACMG" "0000908555" "11" "50" "2" "167162344" "167162344" "subst" "0.00284574" "00006" "SCN9A_000150" "g.167162344C>T" "" "{PMID:Zhou 2018:29314583}" "" "R185H" "" "Germline" "" "" "0" "" "" "g.166305834C>T" "" "VUS" "ACMG" "0000911230" "0" "30" "2" "167060576" "167060576" "subst" "7.34898E-5" "02327" "SCN9A_000329" "g.167060576T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911231" "0" "30" "2" "167060878" "167060878" "subst" "6.11367E-5" "02327" "SCN9A_000330" "g.167060878G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911232" "0" "30" "2" "167085210" "167085210" "subst" "4.09719E-6" "02327" "SCN9A_000331" "g.167085210C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911233" "0" "30" "2" "167129240" "167129240" "subst" "0.000208844" "02327" "SCN9A_000332" "g.167129240C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911234" "0" "50" "2" "167134816" "167134816" "subst" "7.48398E-5" "02327" "SCN9A_000333" "g.167134816G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911235" "0" "50" "2" "167141211" "167141211" "subst" "7.3166E-5" "02330" "SCN9A_000334" "g.167141211T>C" "" "" "" "SCN9A(NM_002977.3):c.1726A>G (p.S576G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911236" "0" "30" "2" "167142893" "167142893" "subst" "0.00045945" "02330" "SCN9A_000029" "g.167142893C>T" "" "" "" "SCN9A(NM_002977.3):c.1555G>A (p.E519K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911237" "0" "30" "2" "167142893" "167142893" "subst" "0.00045945" "02326" "SCN9A_000029" "g.167142893C>T" "" "" "" "SCN9A(NM_002977.3):c.1555G>A (p.E519K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921083" "21" "70" "2" "167162301" "167162301" "del" "0" "04484" "SCN9A_000335" "g.167162301del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.166305791del" "" "likely pathogenic" "ACMG" "0000923336" "0" "50" "2" "167056109" "167056109" "subst" "0" "02327" "SCN9A_000336" "g.167056109A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923337" "0" "10" "2" "167099158" "167099158" "subst" "0.879499" "02327" "SCN9A_000164" "g.167099158A>G" "" "" "" "SCN1A-AS1(NR_110260.1):n.612-5547A>G, SCN9A(NM_002977.3):c.3448T>C (p.W1150R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923338" "0" "50" "2" "167145054" "167145054" "subst" "1.62843E-5" "02327" "SCN9A_000325" "g.167145054T>G" "" "" "" "SCN9A(NM_001365536.1):c.1207A>C (p.(Met403Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923339" "0" "50" "2" "167149754" "167149754" "subst" "0" "02327" "SCN9A_000337" "g.167149754T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928303" "0" "30" "2" "167085334" "167085334" "subst" "0.000113711" "02327" "SCN9A_000338" "g.167085334C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928304" "0" "30" "2" "167138326" "167138326" "subst" "8.61557E-6" "02327" "SCN9A_000339" "g.167138326A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928305" "0" "50" "2" "167141091" "167141091" "subst" "6.91484E-5" "02327" "SCN9A_000031" "g.167141091C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928306" "0" "50" "2" "167144954" "167144954" "subst" "0" "02330" "SCN9A_000340" "g.167144954T>G" "" "" "" "SCN9A(NM_002977.3):c.1307A>C (p.E436A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928307" "0" "30" "2" "167163094" "167163094" "subst" "0.000135266" "02327" "SCN9A_000341" "g.167163094G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928308" "0" "50" "2" "167163520" "167163520" "subst" "0" "02327" "SCN9A_000342" "g.167163520A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000935944" "0" "90" "2" "167137025" "167137025" "subst" "0" "00006" "SCN9A_000343" "g.167137025A>G" "" "{PMID:Chuan 2022:35571021}" "" "NM_001365536.1:c.2185T>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.166280515A>G" "" "pathogenic (dominant)" "" "0000935955" "0" "90" "2" "167160796" "167160796" "subst" "6.91422E-5" "00006" "SCN9A_000344" "g.167160796G>A" "" "{PMID:Chuan 2022:35571021}" "" "NM_001365536.1:c.640C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.166304286G>A" "" "pathogenic (dominant)" "" "0000947396" "0" "30" "2" "167055370" "167055370" "subst" "0.000768786" "02330" "SCN9A_000110" "g.167055370G>A" "" "" "" "SCN9A(NM_002977.3):c.5746C>T (p.L1916F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947397" "0" "30" "2" "167055776" "167055776" "subst" "1.21818E-5" "02330" "SCN9A_000345" "g.167055776G>A" "" "" "" "SCN9A(NM_002977.3):c.5340C>T (p.P1780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947398" "0" "10" "2" "167060244" "167060244" "subst" "0" "02330" "SCN9A_000346" "g.167060244T>C" "" "" "" "SCN9A(NM_002977.3):c.4741+221A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947399" "0" "10" "2" "167082978" "167082978" "subst" "0" "02330" "SCN9A_000089" "g.167082978T>C" "" "" "" "SCN9A(NM_002977.3):c.4365+99A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947400" "0" "10" "2" "167089980" "167089980" "subst" "0.00515161" "02327" "SCN9A_000121" "g.167089980A>G" "" "" "" "SCN9A(NM_002977.3):c.3769-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947401" "0" "50" "2" "167133846" "167133846" "subst" "0" "02327" "SCN9A_000347" "g.167133846G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947402" "0" "50" "2" "167141193" "167141193" "subst" "0.000113818" "02327" "SCN9A_000348" "g.167141193C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961415" "0" "30" "2" "167137122" "167137122" "subst" "0" "02330" "SCN9A_000349" "g.167137122G>T" "" "" "" "SCN9A(NM_002977.3):c.2072-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961417" "0" "50" "2" "167149749" "167149749" "subst" "0.000130525" "02327" "SCN9A_000350" "g.167149749A>G" "" "" "" "SCN9A(NM_001365536.1):c.1099T>C (p.(Tyr367His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961419" "0" "50" "2" "167168247" "167168247" "subst" "1.22862E-5" "02327" "SCN9A_000153" "g.167168247G>A" "" "" "" "SCN9A(NM_002977.3):c.20C>T (p.P7L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974425" "0" "50" "2" "167055732" "167055732" "subst" "0" "02327" "SCN9A_000351" "g.167055732G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974426" "0" "50" "2" "167056272" "167056272" "subst" "3.65453E-5" "01804" "SCN9A_000352" "g.167056272C>G" "" "" "" "SCN9A(NM_001365536.1):c.4877G>C (p.(Gly1626Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974427" "0" "30" "2" "167099133" "167099133" "subst" "0.000494287" "02327" "SCN9A_000353" "g.167099133T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974428" "0" "30" "2" "167108344" "167108344" "subst" "0.00019587" "02327" "SCN9A_000354" "g.167108344G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974429" "0" "50" "2" "167108356" "167108356" "subst" "0" "01804" "SCN9A_000355" "g.167108356C>A" "" "" "" "SCN9A(NM_001365536.1):c.3391G>T (p.(Asp1131Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974430" "0" "50" "2" "167168209" "167168209" "subst" "2.43809E-5" "02327" "SCN9A_000356" "g.167168209G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991783" "0" "50" "2" "167060516" "167060516" "subst" "0" "02327" "SCN9A_000357" "g.167060516T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991784" "0" "50" "2" "167128931" "167128931" "subst" "0.000179659" "02327" "SCN9A_000198" "g.167128931G>A" "" "" "" "SCN9A(NM_002977.3):c.3296C>T (p.S1099L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991785" "0" "50" "2" "167133717" "167133717" "subst" "3.25055E-5" "02327" "SCN9A_000358" "g.167133717C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991786" "0" "30" "2" "167134706" "167134706" "subst" "0.000281284" "01804" "SCN9A_000207" "g.167134706C>T" "" "" "" "SCN9A(NM_002977.3):c.2428G>A (p.(Val810Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991787" "0" "10" "2" "167134730" "167134730" "subst" "0.0027078" "02326" "SCN9A_000041" "g.167134730T>C" "" "" "" "SCN9A(NM_002977.3):c.2404A>G (p.S802G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991788" "0" "30" "2" "167141016" "167141016" "subst" "2.85801E-5" "01804" "SCN9A_000032" "g.167141016T>A" "" "" "" "SCN9A(NM_002977.3):c.1921A>T (p.(Asn641Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991789" "0" "30" "2" "167144944" "167144944" "subst" "3.26712E-5" "01804" "SCN9A_000287" "g.167144944T>A" "" "" "" "SCN9A(NM_002977.3):c.1314+3A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991790" "0" "30" "2" "167144975" "167144975" "subst" "4.8964E-5" "02327" "SCN9A_000359" "g.167144975C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991791" "0" "30" "2" "167149828" "167149828" "subst" "0" "02330" "SCN9A_000360" "g.167149828G>C" "" "" "" "SCN9A(NM_002977.3):c.1020C>G (p.G340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991792" "0" "30" "2" "167149843" "167149843" "subst" "0" "01804" "SCN9A_000361" "g.167149843T>A" "" "" "" "SCN9A(NM_002977.3):c.1005A>T (p.(Arg335Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991793" "0" "50" "2" "167168047" "167168047" "subst" "0" "02327" "SCN9A_000362" "g.167168047G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991794" "0" "30" "2" "167168054" "167168054" "subst" "9.75665E-5" "02327" "SCN9A_000363" "g.167168054C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013403" "0" "50" "2" "167055204" "167055204" "subst" "8.88934E-5" "02325" "SCN9A_000252" "g.167055204T>A" "" "" "" "SCN9A(NM_002977.3):c.5912A>T (p.D1971V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013404" "0" "50" "2" "167060673" "167060673" "subst" "4.07531E-6" "02327" "SCN9A_000364" "g.167060673C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013405" "0" "50" "2" "167128931" "167128931" "subst" "0.000179659" "02325" "SCN9A_000198" "g.167128931G>A" "" "" "" "SCN9A(NM_002977.3):c.3296C>T (p.S1099L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013406" "0" "30" "2" "167145084" "167145084" "subst" "0.000207863" "02326" "SCN9A_000263" "g.167145084G>A" "" "" "" "SCN9A(NM_002977.3):c.1177C>T (p.L393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024256" "0" "30" "2" "167163468" "167163468" "subst" "0" "02327" "SCN9A_000365" "g.167163468G>A" "" "" "" "" "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" "" "0001032483" "0" "10" "2" "167085297" "167085297" "subst" "0.00030053" "02326" "SCN9A_000186" "g.167085297A>G" "" "" "" "SCN9A(NM_002977.3):c.4077T>C (p.C1359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001032484" "0" "10" "2" "167108385" "167108385" "subst" "0.0205695" "02327" "SCN9A_000165" "g.167108385C>T" "" "" "" "SCN9A(NM_002977.3):c.3329G>A (p.R1110Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001032485" "0" "30" "2" "167129103" "167129103" "subst" "3.25746E-5" "02327" "SCN9A_000366" "g.167129103G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032486" "0" "50" "2" "167133509" "167133509" "subst" "0" "01804" "SCN9A_000367" "g.167133509A>C" "" "" "" "SCN9A(NM_001365536.1):c.2858T>G (p.(Val953Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032487" "0" "50" "2" "167133654" "167133654" "subst" "0" "01804" "SCN9A_000368" "g.167133654G>A" "" "" "" "SCN9A(NM_001365536.1):c.2713C>T (p.(Leu905Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032488" "0" "30" "2" "167134758" "167134758" "subst" "0.000212538" "02326" "SCN9A_000369" "g.167134758A>G" "" "" "" "SCN9A(NM_002977.3):c.2376T>C (p.Y792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032489" "0" "50" "2" "167141147" "167141147" "subst" "2.03264E-5" "01804" "SCN9A_000370" "g.167141147C>T" "" "" "" "SCN9A(NM_001365536.1):c.1790G>A (p.(Arg597Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032490" "0" "30" "2" "167149749" "167149749" "subst" "0.000130525" "01804" "SCN9A_000350" "g.167149749A>G" "" "" "" "SCN9A(NM_001365536.1):c.1099T>C (p.(Tyr367His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032491" "0" "50" "2" "167168079" "167168079" "subst" "0" "01804" "SCN9A_000371" "g.167168079T>C" "" "" "" "SCN9A(NM_001365536.1):c.188A>G (p.(Tyr63Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045719" "0" "30" "2" "167168062" "167168062" "subst" "4.06415E-5" "02327" "SCN9A_000372" "g.167168062C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050861" "0" "50" "2" "167094699" "167094699" "subst" "4.16406E-6" "01804" "SCN9A_000373" "g.167094699T>C" "" "" "" "SCN9A(NM_001365536.1):c.3706A>G (p.(Ile1236Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050862" "0" "50" "2" "167136911" "167136911" "subst" "0" "01804" "SCN9A_000211" "g.167136911G>T" "" "" "" "SCN9A(NM_001365536.1):c.2299C>A (p.(Pro767Thr)), SCN9A(NM_002977.3):c.2266C>A (p.P756T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050863" "0" "50" "2" "167137018" "167137018" "subst" "0.000153248" "01804" "SCN9A_000212" "g.167137018A>T" "" "" "" "SCN9A(NM_001365536.1):c.2192T>A (p.(Ile731Lys)), SCN9A(NM_002977.3):c.2159T>A (p.I720K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050864" "0" "50" "2" "167162345" "167162345" "subst" "1.62603E-5" "01804" "SCN9A_000374" "g.167162345G>A" "" "" "" "SCN9A(NM_001365536.1):c.553C>T (p.(Arg185Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057750" "1" "70" "2" "167141109" "167141109" "subst" "0.0241216" "00006" "SCN9A_000030" "g.167141109G>T" "" "{PMID:Shadrina 2016:26770814}" "" "" "" "Germline" "" "rs41268673" "0" "" "" "g.166284599G>T" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SCN9A ## Count = 533 "{{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}}" "0000036004" "00018525" "55" "3799" "0" "3799" "0" "c.3799C>G" "r.(?)" "p.(Leu1267Val)" "21" "" "0000064151" "00018525" "10" "3329" "0" "3329" "0" "c.3329G>A" "r.(?)" "p.(Arg1110Gln)" "" "" "0000064152" "00018525" "10" "1941" "41" "1941" "41" "c.1941+41C>T" "r.(=)" "p.(=)" "" "" "0000064153" "00018525" "90" "3799" "0" "3799" "0" "c.3799C>G" "r.(?)" "p.(Leu1267Val)" "" "" "0000064154" "00018525" "10" "1828" "0" "1828" "0" "c.1828C>A" "r.(?)" "p.(Pro610Thr)" "" "" "0000064155" "00018525" "50" "3892" "-5" "3892" "-5" "c.3892-5A>G" "r.spl?" "p.?" "" "" "0000064156" "00018525" "10" "1287" "0" "1287" "0" "c.1287T>A" "r.(=)" "p.(=)" "" "" "0000064157" "00018525" "10" "1119" "0" "1119" "0" "c.1119T>C" "r.(=)" "p.(=)" "" "" "0000064158" "00018525" "10" "1107" "48" "1107" "48" "c.1107+48C>T" "r.(=)" "p.(=)" "" "" "0000064159" "00018525" "10" "2072" "-14" "2072" "-14" "c.2072-14C>T" "r.(=)" "p.(=)" "" "" "0000064160" "00018525" "10" "1266" "0" "1266" "0" "c.1266A>G" "r.(=)" "p.(=)" "" "" "0000064161" "00018525" "10" "3448" "0" "3448" "0" "c.3448T>C" "r.(?)" "p.(Trp1150Arg)" "" "" "0000064162" "00018525" "10" "4173" "58" "4173" "59" "c.4173+58_4173+59del" "r.(=)" "p.(=)" "" "" "0000064163" "00018525" "10" "4173" "77" "4173" "77" "c.4173+77A>C" "r.(=)" "p.(=)" "" "" "0000064164" "00018525" "10" "4173" "120" "4173" "121" "c.4173+120_4173+121del" "r.(=)" "p.(=)" "" "" "0000064165" "00018525" "10" "3769" "-4" "3769" "-4" "c.3769-4A>G" "r.spl?" "p.?" "" "" "0000064166" "00018525" "10" "4174" "-156" "4174" "-155" "c.4174-156_4174-155insA" "r.(=)" "p.(=)" "" "" "0000064167" "00018525" "10" "4365" "99" "4365" "99" "c.4365+99A>G" "r.(=)" "p.(=)" "" "" "0000064168" "00018525" "10" "4741" "16" "4741" "16" "c.4741+16T>A" "r.(=)" "p.(=)" "" "" "0000064169" "00018525" "50" "1602" "55" "1602" "55" "c.1602+55T>G" "r.(=)" "p.(=)" "" "" "0000064170" "00018525" "50" "1143" "0" "1145" "0" "c.1143_1145del" "r.(?)" "p.(Phe382del)" "" "" "0000064171" "00018525" "50" "1348" "0" "1348" "0" "c.1348A>G" "r.(?)" "p.(Ile450Val)" "" "" "0000064172" "00018525" "10" "2072" "-15" "2072" "-15" "c.2072-15G>A" "r.(=)" "p.(=)" "" "" "0000064173" "00018525" "10" "4742" "-54" "4742" "-54" "c.4742-54C>T" "r.(=)" "p.(=)" "" "" "0000064174" "00018525" "50" "3595" "-67" "3595" "-67" "c.3595-67dup" "r.(=)" "p.(=)" "" "" "0000064175" "00018525" "50" "3734" "0" "3734" "0" "c.3734A>G" "r.(?)" "p.(Asn1245Ser)" "" "" "0000064176" "00018525" "90" "4612" "0" "4612" "0" "c.4612T>C" "r.(?)" "p.(Trp1538Arg)" "" "" "0000064177" "00018525" "10" "688" "13" "688" "13" "c.688+13T>C" "r.(=)" "p.(=)" "" "" "0000064178" "00018525" "10" "5723" "0" "5723" "0" "c.5723A>G" "r.(?)" "p.(Asp1908Gly)" "" "" "0000064179" "00018525" "10" "1107" "41" "1107" "41" "c.1107+41A>G" "r.(=)" "p.(=)" "" "" "0000064180" "00018525" "10" "4366" "-10" "4366" "-7" "c.4366-10_4366-7del" "r.(=)" "p.(=)" "" "" "0000064181" "00018525" "10" "2971" "0" "2971" "0" "c.2971G>T" "r.(?)" "p.(Val991Leu)" "" "" "0000064182" "00018525" "50" "4547" "0" "4548" "0" "c.4547_4548insGTTC" "r.(?)" "p.(Asn1517Phefs*19)" "" "" "0000064183" "00018525" "10" "444" "0" "444" "0" "c.444A>G" "r.(=)" "p.(=)" "" "" "0000064184" "00018525" "10" "2794" "0" "2794" "0" "c.2794A>C" "r.(?)" "p.(Met932Leu)" "" "" "0000064185" "00018525" "10" "4779" "0" "4779" "0" "c.4779G>T" "r.(=)" "p.(=)" "" "" "0000064186" "00018525" "10" "259" "-79" "259" "-79" "c.259-79G>A" "r.(=)" "p.(=)" "" "" "0000064187" "00018525" "10" "377" "93" "377" "93" "c.377+93G>T" "r.(=)" "p.(=)" "" "" "0000064188" "00018525" "10" "377" "94" "377" "94" "c.377+94A>G" "r.(=)" "p.(=)" "" "" "0000064189" "00018525" "10" "596" "25" "596" "25" "c.596+25C>T" "r.(=)" "p.(=)" "" "" "0000064190" "00018525" "10" "174" "0" "174" "0" "c.174G>A" "r.(=)" "p.(=)" "" "" "0000079398" "00018525" "00" "3319" "-159" "1482695" "0" "c.3319-159_*1476761del" "r.(?)" "p.(Arg1107*)" "" "" "0000130058" "00018525" "70" "3503" "0" "3503" "0" "c.3503G>A" "r.(?)" "p.(Trp1168*)" "" "" "0000188121" "00018525" "00" "294" "0" "294" "0" "c.294C>A" "r.(?)" "p.(Phe98Leu)" "" "" "0000188172" "00018525" "00" "2969" "0" "2969" "0" "c.2969A>G" "r.(?)" "p.(Tyr990Cys)" "" "" "0000188206" "00018525" "00" "3799" "0" "3799" "0" "c.3799C>G" "r.(?)" "p.(Leu1267Val)" "" "" "0000188209" "00018525" "00" "3387" "0" "3387" "0" "c.3387A>T" "r.(?)" "p.(Glu1129Asp)" "" "" "0000188289" "00018525" "00" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Val90Ala)" "" "" "0000188300" "00018525" "00" "3799" "0" "3799" "0" "c.3799C>G" "r.(?)" "p.(Leu1267Val)" "" "" "0000188312" "00018525" "00" "3799" "0" "3799" "0" "c.3799C>G" "r.(?)" "p.(Leu1267Val)" "" "" "0000188341" "00018525" "00" "2969" "0" "2969" "0" "c.2969A>G" "r.(?)" "p.(Tyr990Cys)" "" "" "0000188396" "00018525" "00" "1946" "0" "1946" "0" "c.1946C>T" "r.(?)" "p.(Thr649Met)" "" "" "0000188409" "00018525" "00" "3316" "0" "3316" "0" "c.3316G>T" "r.(?)" "p.(Val1106Leu)" "" "" "0000188459" "00018525" "00" "3328" "0" "3328" "0" "c.3328C>T" "r.(?)" "p.(Arg1110Trp)" "" "" "0000188470" "00018525" "00" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Glu519Lys)" "" "" "0000188471" "00018525" "00" "3328" "0" "3328" "0" "c.3328C>T" "r.(?)" "p.(Arg1110Trp)" "" "" "0000188480" "00018525" "00" "3328" "0" "3328" "0" "c.3328C>T" "r.(?)" "p.(Arg1110Trp)" "" "" "0000188485" "00018525" "00" "3799" "0" "3799" "0" "c.3799C>G" "r.(?)" "p.(Leu1267Val)" "" "" "0000188501" "00018525" "00" "3799" "0" "3799" "0" "c.3799C>G" "r.(?)" "p.(Leu1267Val)" "" "" "0000188530" "00018525" "00" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Gly616Arg)" "" "" "0000188541" "00018525" "00" "3316" "0" "3316" "0" "c.3316G>T" "r.(?)" "p.(Val1106Leu)" "" "" "0000188548" "00018525" "00" "3799" "0" "3799" "0" "c.3799C>G" "r.(?)" "p.(Leu1267Val)" "" "" "0000245734" "00018525" "10" "1942" "-3" "1942" "-3" "c.1942-3del" "r.spl?" "p.?" "" "" "0000245753" "00018525" "10" "4741" "16" "4741" "16" "c.4741+16T>A" "r.(=)" "p.(=)" "" "" "0000245874" "00018525" "10" "4612" "0" "4612" "0" "c.4612T>C" "r.(?)" "p.(Trp1538Arg)" "" "" "0000245883" "00018525" "10" "3448" "0" "3448" "0" "c.3448=" "r.(=)" "p.(Arg1150=)" "" "" "0000245884" "00018525" "10" "1287" "0" "1287" "0" "c.1287T>A" "r.(?)" "p.(Arg429=)" "" "" "0000245885" "00018525" "10" "1119" "0" "1119" "0" "c.1119T>C" "r.(?)" "p.(Ala373=)" "" "" "0000245953" "00018525" "30" "129" "0" "129" "0" "c.129T>C" "r.(?)" "p.(Asp43=)" "" "" "0000248354" "00018525" "10" "1287" "0" "1287" "0" "c.1287T>A" "r.(?)" "p.(Arg429=)" "" "" "0000248355" "00018525" "10" "1119" "0" "1119" "0" "c.1119T>C" "r.(?)" "p.(Ala373=)" "" "" "0000248426" "00018525" "10" "4741" "16" "4741" "16" "c.4741+16T>A" "r.(=)" "p.(=)" "" "" "0000249318" "00018525" "30" "4065" "0" "4065" "0" "c.4065T>C" "r.(?)" "p.(Asn1355=)" "" "" "0000250975" "00018525" "10" "1942" "-3" "1942" "-3" "c.1942-3del" "r.spl?" "p.?" "" "" "0000251264" "00018525" "10" "3891" "34" "3891" "34" "c.3891+34T>A" "r.(=)" "p.(=)" "" "" "0000251265" "00018525" "10" "3440" "-113" "3440" "-113" "c.3440-113T>C" "r.(=)" "p.(=)" "" "" "0000251266" "00018525" "10" "1942" "-6" "1942" "-6" "c.1942-6T>A" "r.(=)" "p.(=)" "" "" "0000252053" "00018525" "30" "3769" "-8" "3769" "-8" "c.3769-8T>C" "r.(=)" "p.(=)" "" "" "0000252054" "00018525" "30" "2842" "-5" "2842" "-5" "c.2842-5T>A" "r.spl?" "p.?" "" "" "0000252055" "00018525" "30" "1942" "-4" "1942" "-4" "c.1942-4T>A" "r.spl?" "p.?" "" "" "0000279397" "00018525" "10" "2072" "-14" "2072" "-14" "c.2072-14C>T" "r.(=)" "p.(=)" "" "" "0000279398" "00018525" "10" "2072" "-15" "2072" "-15" "c.2072-15G>A" "r.(=)" "p.(=)" "" "" "0000279399" "00018525" "10" "1266" "0" "1266" "0" "c.1266A>G" "r.(?)" "p.(Glu422=)" "" "" "0000286016" "00018525" "30" "2215" "0" "2215" "0" "c.2215A>G" "r.(?)" "p.(Ile739Val)" "" "" "0000295668" "00018525" "10" "1110" "0" "1110" "0" "c.1110G>A" "r.(?)" "p.(Thr370=)" "" "" "0000295669" "00018525" "10" "1155" "0" "1155" "0" "c.1155G>T" "r.(?)" "p.(Val385=)" "" "" "0000295671" "00018525" "10" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Ser490Asn)" "" "" "0000295672" "00018525" "10" "174" "0" "174" "0" "c.174G>A" "r.(?)" "p.(Gln58=)" "" "" "0000295673" "00018525" "10" "1828" "0" "1828" "0" "c.1828C>A" "r.(?)" "p.(Pro610Thr)" "" "" "0000295678" "00018525" "50" "2096" "0" "2096" "0" "c.2096G>A" "r.(?)" "p.(Cys699Tyr)" "" "" "0000295679" "00018525" "50" "20" "0" "20" "0" "c.20C>T" "r.(?)" "p.(Pro7Leu)" "" "" "0000295680" "00018525" "50" "2434" "0" "2434" "0" "c.2434C>G" "r.(?)" "p.(Leu812Val)" "" "" "0000295681" "00018525" "10" "2794" "0" "2794" "0" "c.2794A>C" "r.(?)" "p.(Met932Leu)" "" "" "0000295683" "00018525" "10" "2841" "11" "2841" "13" "c.2841+11_2841+13del" "r.(=)" "p.(=)" "" "" "0000295684" "00018525" "50" "2969" "0" "2969" "0" "c.2969A>G" "r.(?)" "p.(Tyr990Cys)" "" "" "0000295685" "00018525" "10" "2971" "0" "2971" "0" "c.2971G>T" "r.(?)" "p.(Val991Leu)" "" "" "0000295686" "00018525" "10" "3174" "0" "3174" "0" "c.3174C>T" "r.(?)" "p.(His1058=)" "" "" "0000295687" "00018525" "50" "3310" "0" "3310" "0" "c.3310A>G" "r.(?)" "p.(Ser1104Gly)" "" "" "0000295688" "00018525" "10" "3329" "0" "3329" "0" "c.3329G>A" "r.(?)" "p.(Arg1110Gln)" "" "" "0000295689" "00018525" "10" "3642" "0" "3642" "0" "c.3642C>A" "r.(?)" "p.(Ile1214=)" "" "" "0000295690" "00018525" "10" "3769" "-4" "3769" "-4" "c.3769-4A>G" "r.spl?" "p.?" "" "" "0000295691" "00018525" "10" "4366" "-10" "4366" "-7" "c.4366-10_4366-7del" "r.(=)" "p.(=)" "" "" "0000295692" "00018525" "10" "444" "0" "444" "0" "c.444A>G" "r.(?)" "p.(Pro148=)" "" "" "0000295693" "00018525" "10" "4779" "0" "4779" "0" "c.4779G>T" "r.(?)" "p.(Val1593=)" "" "" "0000295694" "00018525" "10" "5077" "0" "5077" "0" "c.5077C>T" "r.(?)" "p.(Leu1693=)" "" "" "0000295695" "00018525" "10" "5723" "0" "5723" "0" "c.5723A>G" "r.(?)" "p.(Asp1908Gly)" "" "" "0000298018" "00018525" "10" "1266" "0" "1266" "0" "c.1266A>G" "r.(?)" "p.(Glu422=)" "" "" "0000298019" "00018525" "10" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Ser490Asn)" "" "" "0000298020" "00018525" "10" "174" "0" "174" "0" "c.174G>A" "r.(?)" "p.(Gln58=)" "" "" "0000298021" "00018525" "30" "1942" "-3" "1942" "-3" "c.1942-3dup" "r.spl?" "p.?" "" "" "0000298023" "00018525" "10" "2072" "-14" "2072" "-14" "c.2072-14C>T" "r.(=)" "p.(=)" "" "" "0000298024" "00018525" "30" "2841" "11" "2841" "11" "c.2841+11del" "r.(=)" "p.(=)" "" "" "0000298025" "00018525" "30" "2841" "12" "2841" "12" "c.2841+12G>T" "r.(=)" "p.(=)" "" "" "0000298026" "00018525" "30" "2841" "13" "2841" "13" "c.2841+13A>T" "r.(=)" "p.(=)" "" "" "0000298027" "00018525" "50" "3087" "0" "3087" "0" "c.3087C>G" "r.(?)" "p.(Asn1029Lys)" "" "" "0000298028" "00018525" "30" "3162" "0" "3162" "0" "c.3162C>T" "r.(?)" "p.(Ser1054=)" "" "" "0000298029" "00018525" "50" "361" "0" "361" "0" "c.361A>C" "r.(?)" "p.(Lys121Gln)" "" "" "0000298031" "00018525" "10" "4366" "-10" "4366" "-7" "c.4366-10_4366-7del" "r.(=)" "p.(=)" "" "" "0000298032" "00018525" "10" "444" "0" "444" "0" "c.444A>G" "r.(?)" "p.(Pro148=)" "" "" "0000298033" "00018525" "50" "5369" "0" "5369" "0" "c.5369A>C" "r.(?)" "p.(Lys1790Thr)" "" "" "0000301963" "00018525" "10" "1155" "0" "1155" "0" "c.1155G>T" "r.(?)" "p.(Val385=)" "" "" "0000301964" "00018525" "10" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Ser490Asn)" "" "" "0000301965" "00018525" "10" "174" "0" "174" "0" "c.174G>A" "r.(?)" "p.(Gln58=)" "" "" "0000301966" "00018525" "30" "1828" "0" "1828" "0" "c.1828C>A" "r.(?)" "p.(Pro610Thr)" "" "" "0000301967" "00018525" "10" "2072" "-14" "2072" "-14" "c.2072-14C>T" "r.(=)" "p.(=)" "" "" "0000301968" "00018525" "10" "2072" "-70" "2072" "-70" "c.2072-70C>T" "r.(=)" "p.(=)" "" "" "0000301970" "00018525" "50" "2434" "0" "2434" "0" "c.2434C>G" "r.(?)" "p.(Leu812Val)" "" "" "0000301971" "00018525" "30" "2841" "12" "2841" "12" "c.2841+12G>T" "r.(=)" "p.(=)" "" "" "0000301972" "00018525" "10" "2841" "13" "2841" "13" "c.2841+13del" "r.(=)" "p.(=)" "" "" "0000301973" "00018525" "10" "2842" "-6" "2842" "-6" "c.2842-6A>T" "r.(=)" "p.(=)" "" "" "0000301974" "00018525" "10" "3329" "0" "3329" "0" "c.3329G>A" "r.(?)" "p.(Arg1110Gln)" "" "" "0000301975" "00018525" "10" "3769" "-4" "3769" "-4" "c.3769-4A>G" "r.spl?" "p.?" "" "" "0000301976" "00018525" "10" "377" "92" "377" "92" "c.377+92dup" "r.(=)" "p.(=)" "" "" "0000301977" "00018525" "10" "377" "93" "377" "93" "c.377+93G>T" "r.(=)" "p.(=)" "" "" "0000301978" "00018525" "10" "377" "94" "377" "94" "c.377+94A>G" "r.(=)" "p.(=)" "" "" "0000301979" "00018525" "50" "3799" "0" "3799" "0" "c.3799C>G" "r.(?)" "p.(Leu1267Val)" "" "" "0000301981" "00018525" "10" "4366" "-10" "4366" "-7" "c.4366-10_4366-7del" "r.(=)" "p.(=)" "" "" "0000301982" "00018525" "10" "4366" "-10" "4366" "-10" "c.4366-10del" "r.(=)" "p.(=)" "" "" "0000301983" "00018525" "10" "4366" "-10" "4366" "-10" "c.4366-10G>C" "r.(=)" "p.(=)" "" "" "0000301984" "00018525" "30" "4366" "-14" "4366" "-14" "c.4366-14G>T" "r.(=)" "p.(=)" "" "" "0000301985" "00018525" "10" "4742" "-44" "4742" "-44" "c.4742-44A>G" "r.(=)" "p.(=)" "" "" "0000301986" "00018525" "10" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185His)" "" "" "0000301987" "00018525" "10" "5913" "0" "5913" "0" "c.5913C>T" "r.(?)" "p.(Asp1971=)" "" "" "0000307832" "00018525" "30" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Ser466=)" "" "" "0000307833" "00018525" "30" "3174" "0" "3174" "0" "c.3174C>T" "r.(?)" "p.(His1058=)" "" "" "0000307834" "00018525" "10" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185His)" "" "" "0000307835" "00018525" "30" "5746" "0" "5746" "0" "c.5746C>T" "r.(?)" "p.(Leu1916Phe)" "" "" "0000307836" "00018525" "50" "715" "0" "715" "0" "c.715A>G" "r.(?)" "p.(Ile239Val)" "" "" "0000343579" "00018525" "30" "3734" "0" "3734" "0" "c.3734A>G" "r.(?)" "p.(Asn1245Ser)" "" "" "0000350966" "00018525" "50" "2732" "0" "2732" "0" "c.2732G>A" "r.(?)" "p.(Arg911His)" "" "" "0000351740" "00018525" "90" "174" "0" "174" "0" "c.174G>A" "r.(?)" "p.(Gln58=)" "2" "N-terminus" "0000351741" "00018525" "90" "444" "0" "444" "0" "c.444A>G" "r.(?)" "p.(Pro148=)" "2" "D1/S1-S2ex" "0000351742" "00018525" "50" "6178" "0" "6181" "0" "c.*244_*247dup" "r.(=)" "p.(=)" "27" "" "0000351744" "00018525" "50" "2072" "-15" "2072" "-15" "c.2072-15G>A" "r.(=)" "p.(=)" "13i" "" "0000351745" "00018525" "50" "377" "94" "377" "94" "c.377+94A>G" "r.(=)" "p.(=)" "3i" "" "0000351746" "00018525" "50" "378" "-90" "378" "-90" "c.378-90T>A" "r.(=)" "p.(=)" "3i" "" "0000351748" "00018525" "50" "4366" "-10" "4366" "-7" "c.4366-10_4366-7del" "r.(=)" "p.(?)" "24i" "" "0000351749" "00018525" "50" "4741" "16" "4741" "16" "c.4741+16T>A" "r.(=)" "p.(=)" "26i" "" "0000351750" "00018525" "50" "4741" "16" "4741" "16" "c.4741+16T>A" "r.(=)" "p.(=)" "26i" "" "0000351751" "00018525" "50" "596" "25" "596" "25" "c.596+25C>T" "r.(=)" "p.(=)" "5i" "" "0000351752" "00018525" "50" "689" "-217" "689" "-217" "c.689-217A>G" "r.(=)" "p.(=)" "6i" "" "0000351754" "00018525" "90" "2543" "0" "2543" "0" "c.2543T>C" "r.(?)" "p.(Ile848Thr)" "16" "D2/S4" "0000351755" "00018525" "90" "2573" "0" "2573" "0" "c.2573T>A" "r.(?)" "p.(Leu858His)" "16" "D2/S4-S5in" "0000351756" "00018525" "90" "1185" "0" "1185" "0" "c.1185C>A" "r.(?)" "p.(Asn395Lys)" "10" "D1/S6" "0000351757" "00018525" "90" "1828" "0" "1828" "0" "c.1828C>A" "r.(?)" "p.(Pro610Thr)" "12" "L1" "0000351758" "00018525" "90" "2572" "0" "2572" "0" "c.2572C>T" "r.(?)" "p.(Leu858Phe)" "16" "D2/S4-S5in" "0000351759" "00018525" "90" "3448" "0" "3448" "0" "c.3448C>T" "r.?" "p.(Arg1150Trp)" "19" "L2" "0000351760" "00018525" "90" "647" "0" "647" "0" "c.647T>C" "r.(?)" "p.(Phe216Ser)" "6" "D1/S4" "0000351761" "00018525" "50" "1266" "0" "1266" "0" "c.1266A>G" "r.(?)" "p.(=)" "10" "L1" "0000351762" "00018525" "50" "1119" "0" "1119" "0" "c.1119T>C" "r.(?)" "p.(=)" "10" "P1" "0000351763" "00018525" "50" "1287" "0" "1287" "0" "c.1287T>A" "r.(?)" "p.(=)" "10" "L1" "0000351764" "00018525" "90" "4345" "0" "4345" "0" "c.4345T>G" "r.(?)" "p.(Phe1449Val)" "24" "D3/S6" "0000351765" "00018525" "90" "721" "0" "721" "0" "c.721T>A" "r.(?)" "p.(Ser241Thr)" "7" "D1/S4-S5in" "0000351766" "00018525" "90" "2587" "0" "2587" "0" "c.2587G>C" "r.(?)" "p.(Ala863Pro)" "16" "D2/S4-S5in" "0000351767" "00018525" "90" "2986" "0" "2986" "0" "c.2986C>T" "r.(?)" "p.(Arg996Cys)" "17" "L2" "0000351768" "00018525" "90" "4382" "0" "4382" "0" "c.4382T>C" "r.(?)" "p.(Ile1461Thr)" "25" "L3" "0000351769" "00018525" "90" "4391" "0" "4391" "0" "c.4391C>T" "r.(?)" "p.(Thr1464Ile)" "25" "L3" "0000351770" "00018525" "90" "4880" "0" "4880" "0" "c.4880T>A" "r.(?)" "p.(Met1627Lys)" "27" "D4/S4" "0000351771" "00018525" "90" "1376" "0" "1376" "0" "c.1376C>G" "r.(?)" "p.(Ser459*)" "11" "L1" "0000351772" "00018525" "90" "2298" "0" "2298" "0" "c.2298del" "r.(?)" "p.(Ala766Alafs*2)" "14" "D2/S1-S2ex" "0000351773" "00018525" "90" "2691" "0" "2691" "0" "c.2691G>A" "r.(?)" "p.(Trp897*)" "16" "P2" "0000351774" "00018525" "90" "3703" "0" "3713" "0" "c.3703_3713del" "r.(?)" "p.(Ile1235Leufs*2)" "20" "D3/S2" "0000351775" "00018525" "90" "4975" "0" "4975" "0" "c.4975A>T" "r.(?)" "p.(Lys1659*)" "27" "D4/S5" "0000351776" "00018525" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277*)" "7" "P1" "0000351777" "00018525" "90" "984" "0" "984" "0" "c.984C>A" "r.(?)" "p.(Tyr328*)" "9" "P1" "0000351778" "00018525" "90" "3892" "0" "3892" "0" "c.3892G>T" "r.(?)" "p.(Val1298Phe)" "22" "D3/S4" "0000351779" "00018525" "90" "3895" "0" "3895" "0" "c.3895G>T" "r.(?)" "p.(Val1299Phe)" "22" "D3/S4" "0000351780" "00018525" "90" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Ile136Val)" "4" "D1/S1" "0000351781" "00018525" "90" "4895" "0" "4895" "0" "c.4895C>A" "r.(?)" "p.(Ala1632Glu)" "27" "D4/S4-S5in" "0000351782" "00018525" "90" "2615" "0" "2615" "0" "c.2615T>G" "r.(?)" "p.(Val872Gly)" "16" "D2/S5" "0000351783" "00018525" "90" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830*)" "16" "D2/S3-S4ex" "0000351784" "00018525" "90" "774" "0" "775" "0" "c.774_775del" "r.(?)" "p.(Val258Valfs*16)" "7" "D1/S5" "0000351785" "00018525" "90" "1921" "0" "1921" "0" "c.1921A>T" "r.(?)" "p.(Asn641Tyr)" "12" "L1" "0000351786" "00018525" "90" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Glu519Lys)" "11" "L1" "0000351787" "00018525" "90" "2052" "0" "2052" "0" "c.2052A>G" "r.(?)" "p.(Ile684Met)" "13" "L1" "0000351788" "00018525" "90" "3369" "0" "3369" "0" "c.3369G>T" "r.(?)" "p.(Leu1123Phe)" "18" "L2" "0000351789" "00018525" "90" "3478" "0" "3478" "0" "c.3478G>C" "r.(?)" "p.(Glu1160Gln)" "19" "L2" "0000351790" "00018525" "90" "684" "0" "684" "0" "c.684C>G" "r.(?)" "p.(Ile228Met)" "6" "D1/S4" "0000351791" "00018525" "90" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Ser490Asn)" "11" "L1" "0000351792" "00018525" "90" "184" "0" "184" "0" "c.184A>G" "r.(?)" "p.(Ile62Val)" "2" "N-terminus" "0000351793" "00018525" "90" "1964" "0" "1964" "0" "c.1964A>G" "r.(?)" "p.(Lys655Arg)" "13" "L1" "0000351794" "00018525" "90" "3799" "0" "3799" "0" "c.3799C>A" "r.(?)" "p.(Leu1267Ile)" "21" "D3/S3" "0000351795" "00018525" "90" "446" "0" "446" "0" "c.446C>A" "r.(?)" "p.(Pro149Gln)" "4" "D1/S1-S2ex" "0000351796" "00018525" "90" "1964" "0" "1964" "0" "c.1964A>G" "r.(?)" "p.(Lys655Arg)" "13" "L1" "0000351797" "00018525" "90" "2096" "0" "2096" "0" "c.2096G>A" "r.(?)" "p.(Cys699Tyr)" "14" "L1" "0000351798" "00018525" "90" "2215" "0" "2215" "0" "c.2215A>G" "r.(?)" "p.(Ile739Val)" "14" "D2/S1" "0000351799" "00018525" "90" "2215" "0" "2215" "0" "c.2215A>G" "r.(?)" "p.(Ile739Val)" "14" "D2/S1" "0000351800" "00018525" "90" "2468" "0" "2468" "0" "c.2468T>G" "r.(?)" "p.(Leu823Arg)" "15" "D2/S3" "0000351801" "00018525" "90" "601" "0" "601" "0" "c.601T>G" "r.(?)" "p.(Leu201Val)" "6" "D1/S3" "0000351802" "00018525" "90" "616" "0" "616" "0" "c.616A>G" "r.(?)" "p.(Asn206Asp)" "6" "D1/S3-S4ex" "0000351803" "00018525" "90" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Gly616Arg)" "12" "L1" "0000351812" "00018525" "90" "3600" "0" "3600" "0" "c.3600del" "r.(?)" "p.(Phe1200Leufs*33)" "20" "D3/S1" "0000351813" "00018525" "90" "4462" "0" "4462" "0" "c.4462C>T" "r.(?)" "p.(Arg1488*)" "25" "L3" "0000351814" "00018525" "90" "5067" "0" "5067" "0" "c.5067G>A" "r.(?)" "p.(Trp1689*)" "27" "P4" "0000351815" "00018525" "90" "2076" "0" "2076" "0" "c.2076dup" "r.(?)" "p.(Glu693Ter)" "14" "L1" "0000351816" "00018525" "90" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Gly856Asp)" "16" "" "0000357710" "00018525" "90" "4462" "0" "4462" "0" "c.4462C>T" "r.(4462c>u)" "p.(Arg1488*)" "25" "" "0000442704" "00018525" "70" "2026" "0" "2029" "0" "c.2026_2029del" "r.(?)" "p.Gln676Glufs*3" "" "" "0000455010" "00018525" "90" "4596" "0" "4596" "0" "c.4596G>A" "r.(?)" "p.(Met1532Ile)" "" "" "0000509971" "00018525" "30" "5915" "0" "5915" "0" "c.5915G>T" "r.(?)" "p.(Ser1972Ile)" "" "" "0000509972" "00018525" "30" "5307" "0" "5307" "0" "c.5307G>A" "r.(?)" "p.(Glu1769=)" "" "" "0000509973" "00018525" "70" "5260" "0" "5260" "0" "c.5260G>T" "r.(?)" "p.(Val1754Phe)" "" "" "0000509974" "00018525" "30" "5130" "0" "5130" "0" "c.5130T>C" "r.(?)" "p.(His1710=)" "" "" "0000509975" "00018525" "70" "4970" "0" "4970" "0" "c.4970A>C" "r.(?)" "p.(Tyr1657Ser)" "" "" "0000509976" "00018525" "70" "4859" "0" "4859" "0" "c.4859G>T" "r.(?)" "p.(Arg1620Leu)" "" "" "0000509977" "00018525" "50" "4612" "0" "4612" "0" "c.4612T>C" "r.(?)" "p.(Trp1538Arg)" "" "" "0000509978" "00018525" "50" "4585" "0" "4590" "0" "c.4585_4590del" "r.(?)" "p.(Ser1529_Gln1530del)" "" "" "0000509979" "00018525" "30" "4470" "9" "4470" "9" "c.4470+9dup" "r.(=)" "p.(=)" "" "" "0000509980" "00018525" "90" "4445" "0" "4445" "0" "c.4445dup" "r.(?)" "p.(Gln1483ThrfsTer17)" "" "" "0000509981" "00018525" "30" "4365" "36" "4365" "36" "c.4365+36G>A" "r.(=)" "p.(=)" "" "" "0000509982" "00018525" "30" "4365" "14" "4365" "14" "c.4365+14A>G" "r.(=)" "p.(=)" "" "" "0000509983" "00018525" "30" "4282" "0" "4282" "0" "c.4282G>A" "r.(?)" "p.(Val1428Ile)" "" "" "0000509984" "00018525" "30" "4281" "0" "4281" "0" "c.4281C>T" "r.(?)" "p.(Val1427=)" "" "" "0000509985" "00018525" "30" "4077" "0" "4077" "0" "c.4077T>C" "r.(?)" "p.(Cys1359=)" "" "" "0000509986" "00018525" "10" "3891" "133" "3891" "136" "c.3891+133_3891+136dup" "r.(=)" "p.(=)" "" "" "0000509987" "00018525" "70" "3842" "0" "3842" "0" "c.3842T>G" "r.(?)" "p.(Leu1281Arg)" "" "" "0000509988" "00018525" "50" "3836" "0" "3836" "0" "c.3836G>A" "r.(?)" "p.(Arg1279Gln)" "" "" "0000509989" "00018525" "30" "3835" "0" "3835" "0" "c.3835C>A" "r.(?)" "p.(Arg1279=)" "" "" "0000509990" "00018525" "30" "3799" "0" "3799" "0" "c.3799C>G" "r.(?)" "p.(Leu1267Val)" "" "" "0000509991" "00018525" "30" "3799" "0" "3799" "0" "c.3799C>G" "r.(?)" "p.(Leu1267Val)" "" "" "0000509992" "00018525" "30" "3769" "-13" "3769" "-13" "c.3769-13G>A" "r.(=)" "p.(=)" "" "" "0000509993" "00018525" "30" "3769" "-27" "3769" "-27" "c.3769-27C>A" "r.(=)" "p.(=)" "" "" "0000509994" "00018525" "10" "3734" "0" "3734" "0" "c.3734A>G" "r.(?)" "p.(Asn1245Ser)" "" "" "0000509995" "00018525" "30" "3734" "0" "3734" "0" "c.3734A>G" "r.(?)" "p.(Asn1245Ser)" "" "" "0000509996" "00018525" "30" "3734" "0" "3734" "0" "c.3734A>G" "r.(?)" "p.(Asn1245Ser)" "" "" "0000509997" "00018525" "10" "3642" "0" "3642" "0" "c.3642C>A" "r.(?)" "p.(Ile1214=)" "" "" "0000509998" "00018525" "50" "3608" "0" "3608" "0" "c.3608T>C" "r.(?)" "p.(Ile1203Thr)" "" "" "0000509999" "00018525" "50" "3595" "-11" "3595" "-11" "c.3595-11T>G" "r.(=)" "p.(=)" "" "" "0000510000" "00018525" "10" "3448" "0" "3448" "0" "c.3448=" "r.(=)" "p.(Arg1150=)" "" "" "0000510001" "00018525" "30" "3439" "14" "3439" "14" "c.3439+14T>C" "r.(=)" "p.(=)" "" "" "0000510002" "00018525" "30" "3328" "0" "3328" "0" "c.3328C>T" "r.(?)" "p.(Arg1110Trp)" "" "" "0000510003" "00018525" "30" "3319" "-29" "3319" "-29" "c.3319-29A>G" "r.(=)" "p.(=)" "" "" "0000510004" "00018525" "30" "3318" "40" "3318" "40" "c.3318+40T>C" "r.(=)" "p.(=)" "" "" "0000510005" "00018525" "50" "3296" "0" "3296" "0" "c.3296C>T" "r.(?)" "p.(Ser1099Leu)" "" "" "0000510006" "00018525" "50" "3092" "0" "3092" "0" "c.3092C>T" "r.(?)" "p.(Thr1031Ile)" "" "" "0000510007" "00018525" "30" "3054" "0" "3054" "0" "c.3054T>G" "r.(?)" "p.(Asp1018Glu)" "" "" "0000510008" "00018525" "50" "3018" "0" "3018" "0" "c.3018G>C" "r.(?)" "p.(Lys1006Asn)" "" "" "0000510009" "00018525" "30" "2971" "0" "2971" "0" "c.2971G>T" "r.(?)" "p.(Val991Leu)" "" "" "0000510010" "00018525" "30" "2841" "33" "2841" "33" "c.2841+33C>A" "r.(=)" "p.(=)" "" "" "0000510011" "00018525" "10" "2841" "10" "2841" "11" "c.2841+10_2841+11insTT" "r.(=)" "p.(=)" "" "" "0000510012" "00018525" "50" "2794" "0" "2794" "0" "c.2794A>C" "r.(?)" "p.(Met932Leu)" "" "" "0000510013" "00018525" "70" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Gly856Asp)" "" "" "0000510014" "00018525" "30" "2484" "28" "2484" "28" "c.2484+28A>G" "r.(=)" "p.(=)" "" "" "0000510015" "00018525" "30" "2484" "6" "2484" "6" "c.2484+6C>T" "r.(=)" "p.(=)" "" "" "0000510016" "00018525" "30" "2457" "0" "2457" "0" "c.2457A>C" "r.(?)" "p.(Gly819=)" "" "" "0000510017" "00018525" "50" "2428" "0" "2428" "0" "c.2428G>A" "r.(?)" "p.(Val810Met)" "" "" "0000510018" "00018525" "10" "2404" "0" "2404" "0" "c.2404A>G" "r.(?)" "p.(Ser802Gly)" "" "" "0000510019" "00018525" "30" "2359" "0" "2359" "0" "c.2359A>G" "r.(?)" "p.(Met787Val)" "" "" "0000510020" "00018525" "30" "2311" "-20" "2311" "-20" "c.2311-20A>T" "r.(=)" "p.(=)" "" "" "0000510021" "00018525" "50" "2299" "0" "2299" "0" "c.2299A>G" "r.(?)" "p.(Ile767Val)" "" "" "0000510023" "00018525" "50" "2266" "0" "2266" "0" "c.2266C>A" "r.(?)" "p.(Pro756Thr)" "" "" "0000510024" "00018525" "10" "2215" "0" "2215" "0" "c.2215A>G" "r.(?)" "p.(Ile739Val)" "" "" "0000510025" "00018525" "30" "2215" "0" "2215" "0" "c.2215A>G" "r.(?)" "p.(Ile739Val)" "" "" "0000510026" "00018525" "50" "2159" "0" "2159" "0" "c.2159T>A" "r.(?)" "p.(Ile720Lys)" "" "" "0000510027" "00018525" "50" "2159" "0" "2159" "0" "c.2159T>A" "r.(?)" "p.(Ile720Lys)" "" "" "0000510028" "00018525" "30" "2157" "0" "2157" "0" "c.2157G>C" "r.(?)" "p.(Trp719Cys)" "" "" "0000510029" "00018525" "30" "2072" "-8" "2072" "-8" "c.2072-8dup" "r.(=)" "p.(=)" "" "" "0000510030" "00018525" "30" "2071" "39" "2071" "39" "c.2071+39T>C" "r.(=)" "p.(=)" "" "" "0000510031" "00018525" "50" "2033" "0" "2033" "0" "c.2033C>A" "r.(?)" "p.(Ala678Glu)" "" "" "0000510032" "00018525" "10" "1964" "0" "1964" "0" "c.1964A>G" "r.(?)" "p.(Lys655Arg)" "" "" "0000510034" "00018525" "10" "1942" "-3" "1942" "-3" "c.1942-3dup" "r.spl?" "p.?" "" "" "0000510035" "00018525" "30" "1942" "-22" "1942" "-22" "c.1942-22C>T" "r.(=)" "p.(=)" "" "" "0000510036" "00018525" "50" "1942" "-27" "1942" "-27" "c.1942-27T>G" "r.(=)" "p.(=)" "" "" "0000510037" "00018525" "30" "1941" "33" "1941" "33" "c.1941+33C>T" "r.(=)" "p.(=)" "" "" "0000510038" "00018525" "30" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Arg634His)" "" "" "0000510039" "00018525" "30" "1881" "0" "1881" "0" "c.1881G>A" "r.(?)" "p.(Val627=)" "" "" "0000510040" "00018525" "70" "1867" "0" "1867" "0" "c.1867G>A" "r.(?)" "p.(Asp623Asn)" "" "" "0000510041" "00018525" "30" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Pro613Leu)" "" "" "0000510042" "00018525" "30" "1804" "0" "1804" "0" "c.1804A>G" "r.(?)" "p.(Ile602Val)" "" "" "0000510043" "00018525" "50" "1691" "0" "1691" "0" "c.1691T>C" "r.(?)" "p.(Ile564Thr)" "" "" "0000510044" "00018525" "30" "1603" "-14" "1603" "-14" "c.1603-14T>A" "r.(=)" "p.(=)" "" "" "0000510045" "00018525" "50" "1592" "0" "1592" "0" "c.1592C>A" "r.(?)" "p.(Thr531Asn)" "" "" "0000510046" "00018525" "50" "1552" "0" "1552" "0" "c.1552G>T" "r.(?)" "p.(Val518Phe)" "" "" "0000510047" "00018525" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Leu488=)" "" "" "0000510049" "00018525" "10" "1155" "0" "1155" "0" "c.1155G>T" "r.(?)" "p.(Val385=)" "" "" "0000510050" "00018525" "50" "1007" "0" "1007" "0" "c.1007A>C" "r.(?)" "p.(Asn336Thr)" "" "" "0000510051" "00018525" "30" "966" "-8" "966" "-8" "c.966-8G>A" "r.(=)" "p.(=)" "" "" "0000510052" "00018525" "30" "965" "13" "965" "13" "c.965+13T>C" "r.(=)" "p.(=)" "" "" "0000510053" "00018525" "30" "876" "0" "876" "0" "c.876C>T" "r.(?)" "p.(Thr292=)" "" "" "0000510054" "00018525" "10" "688" "13" "688" "13" "c.688+13T>C" "r.(=)" "p.(=)" "" "" "0000510056" "00018525" "50" "684" "0" "684" "0" "c.684C>G" "r.(?)" "p.(Ile228Met)" "" "" "0000510057" "00018525" "30" "684" "0" "684" "0" "c.684C>G" "r.(?)" "p.(Ile228Met)" "" "" "0000510058" "00018525" "50" "619" "0" "619" "0" "c.619C>G" "r.(?)" "p.(Leu207Val)" "" "" "0000510059" "00018525" "50" "599" "0" "599" "0" "c.599A>G" "r.(?)" "p.(Tyr200Cys)" "" "" "0000510060" "00018525" "10" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185His)" "" "" "0000510061" "00018525" "50" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185His)" "" "" "0000510062" "00018525" "30" "465" "0" "465" "0" "c.465C>T" "r.(?)" "p.(Val155=)" "" "" "0000510063" "00018525" "50" "361" "0" "361" "0" "c.361A>C" "r.(?)" "p.(Lys121Gln)" "" "" "0000510064" "00018525" "50" "118" "0" "118" "0" "c.118A>G" "r.(?)" "p.(Lys40Glu)" "" "" "0000510065" "00018525" "50" "77" "0" "77" "0" "c.77G>T" "r.(?)" "p.(Arg26Leu)" "" "" "0000604479" "00018525" "50" "5555" "0" "5555" "0" "c.5555T>G" "r.(?)" "p.(Met1852Arg)" "" "" "0000606231" "00018525" "10" "4366" "-10" "4366" "-7" "c.4366-10_4366-7del" "r.(=)" "p.(=)" "" "" "0000606232" "00018525" "30" "4282" "0" "4282" "0" "c.4282G>A" "r.(?)" "p.(Val1428Ile)" "" "" "0000606233" "00018525" "30" "4281" "0" "4281" "0" "c.4281C>T" "r.(?)" "p.(Val1427=)" "" "" "0000606234" "00018525" "30" "4197" "0" "4197" "0" "c.4197T>C" "r.(?)" "p.(Ile1399=)" "" "" "0000606235" "00018525" "50" "3836" "0" "3836" "0" "c.3836G>C" "r.(?)" "p.(Arg1279Pro)" "" "" "0000606236" "00018525" "30" "3387" "0" "3387" "0" "c.3387A>T" "r.(?)" "p.(Glu1129Asp)" "" "" "0000606237" "00018525" "30" "3174" "0" "3174" "0" "c.3174C>T" "r.(?)" "p.(His1058=)" "" "" "0000606238" "00018525" "30" "3108" "0" "3108" "0" "c.3108C>T" "r.(?)" "p.(Ser1036=)" "" "" "0000606239" "00018525" "30" "2842" "-20" "2842" "-20" "c.2842-20C>G" "r.(=)" "p.(=)" "" "" "0000606240" "00018525" "50" "2215" "0" "2215" "0" "c.2215A>G" "r.(?)" "p.(Ile739Val)" "" "" "0000606241" "00018525" "50" "2159" "0" "2159" "0" "c.2159T>A" "r.(?)" "p.(Ile720Lys)" "" "" "0000606242" "00018525" "30" "1974" "0" "1974" "0" "c.1974T>C" "r.(?)" "p.(Arg658=)" "" "" "0000606243" "00018525" "30" "1964" "0" "1964" "0" "c.1964A>G" "r.(?)" "p.(Lys655Arg)" "" "" "0000606244" "00018525" "10" "1828" "0" "1828" "0" "c.1828C>A" "r.(?)" "p.(Pro610Thr)" "" "" "0000606245" "00018525" "30" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Glu519Lys)" "" "" "0000606246" "00018525" "30" "1497" "0" "1497" "0" "c.1497A>G" "r.(?)" "p.(Lys499=)" "" "" "0000606247" "00018525" "10" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Ser490Asn)" "" "" "0000606248" "00018525" "30" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Ser466=)" "" "" "0000606249" "00018525" "30" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Ser466=)" "" "" "0000606250" "00018525" "30" "1331" "0" "1331" "0" "c.1331C>T" "r.(?)" "p.(Ala444Val)" "" "" "0000606251" "00018525" "30" "684" "0" "684" "0" "c.684C>G" "r.(?)" "p.(Ile228Met)" "" "" "0000606252" "00018525" "30" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Pro68=)" "" "" "0000606253" "00018525" "50" "77" "0" "77" "0" "c.77G>C" "r.(?)" "p.(Arg26Pro)" "" "" "0000620765" "00018525" "50" "4596" "0" "4596" "0" "c.4596G>A" "r.(?)" "p.(Met1532Ile)" "" "" "0000620766" "00018525" "30" "4281" "0" "4281" "0" "c.4281C>T" "r.(?)" "p.(Val1427=)" "" "" "0000620767" "00018525" "50" "2266" "0" "2266" "0" "c.2266C>A" "r.(?)" "p.(Pro756Thr)" "" "" "0000620768" "00018525" "30" "688" "9" "688" "9" "c.688+9T>C" "r.(=)" "p.(=)" "" "" "0000631923" "00018525" "90" "4467" "0" "4467" "0" "c.4467del" "r.(?)" "p.(Asn1491Thrfs*10)" "" "" "0000650193" "00018525" "50" "5678" "0" "5678" "0" "c.5678G>A" "r.(?)" "p.(Arg1893His)" "" "" "0000650194" "00018525" "50" "3734" "0" "3734" "0" "c.3734A>G" "r.(?)" "p.(Asn1245Ser)" "" "" "0000650195" "00018525" "30" "2359" "0" "2359" "0" "c.2359A>G" "r.(?)" "p.(Met787Val)" "" "" "0000650196" "00018525" "50" "2215" "0" "2215" "0" "c.2215A>G" "r.(?)" "p.(Ile739Val)" "" "" "0000650197" "00018525" "50" "2159" "0" "2159" "0" "c.2159T>A" "r.(?)" "p.(Ile720Lys)" "" "" "0000650198" "00018525" "30" "1828" "0" "1828" "0" "c.1828C>A" "r.(?)" "p.(Pro610Thr)" "" "" "0000650199" "00018525" "50" "1109" "0" "1109" "0" "c.1109C>T" "r.(?)" "p.(Thr370Met)" "" "" "0000650200" "00018525" "30" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185His)" "" "" "0000654247" "00018525" "50" "5912" "0" "5912" "0" "c.5912A>T" "r.(?)" "p.(Asp1971Val)" "" "" "0000654248" "00018525" "30" "5717" "0" "5717" "0" "c.5717T>C" "r.(?)" "p.(Ile1906Thr)" "" "" "0000654249" "00018525" "50" "5012" "0" "5012" "0" "c.5012A>C" "r.(?)" "p.(Glu1671Ala)" "" "" "0000654250" "00018525" "30" "4635" "0" "4635" "0" "c.4635C>A" "r.(?)" "p.(Ile1545=)" "" "" "0000654251" "00018525" "30" "4612" "0" "4612" "0" "c.4612T>C" "r.(?)" "p.(Trp1538Arg)" "" "" "0000654252" "00018525" "30" "4282" "0" "4282" "0" "c.4282G>A" "r.(?)" "p.(Val1428Ile)" "" "" "0000654253" "00018525" "30" "4281" "0" "4281" "0" "c.4281C>T" "r.(?)" "p.(Val1427=)" "" "" "0000654254" "00018525" "30" "4260" "0" "4260" "0" "c.4260C>T" "r.(?)" "p.(Leu1420=)" "" "" "0000654255" "00018525" "30" "3651" "0" "3651" "0" "c.3651T>C" "r.(?)" "p.(Tyr1217=)" "" "" "0000654256" "00018525" "30" "3439" "7" "3439" "7" "c.3439+7C>A" "r.(=)" "p.(=)" "" "" "0000654257" "00018525" "30" "2969" "0" "2969" "0" "c.2969A>G" "r.(?)" "p.(Tyr990Cys)" "" "" "0000654258" "00018525" "50" "2434" "0" "2434" "0" "c.2434C>G" "r.(?)" "p.(Leu812Val)" "" "" "0000654259" "00018525" "30" "2311" "-20" "2311" "-20" "c.2311-20A>T" "r.(=)" "p.(=)" "" "" "0000654260" "00018525" "30" "1947" "0" "1947" "0" "c.1947G>A" "r.(?)" "p.(Thr649=)" "" "" "0000654261" "00018525" "30" "1875" "0" "1875" "0" "c.1875C>T" "r.(?)" "p.(Asn625=)" "" "" "0000654262" "00018525" "30" "1326" "0" "1326" "0" "c.1326G>A" "r.(?)" "p.(Ala442=)" "" "" "0000654263" "00018525" "50" "1318" "0" "1318" "0" "c.1318A>G" "r.(?)" "p.(Ile440Val)" "" "" "0000654264" "00018525" "30" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Leu393=)" "" "" "0000654265" "00018525" "50" "796" "0" "796" "0" "c.796C>A" "r.(?)" "p.(Leu266Met)" "" "" "0000654266" "00018525" "30" "655" "0" "655" "0" "c.655T>C" "r.(?)" "p.(Leu219=)" "" "" "0000654267" "00018525" "50" "457" "0" "457" "0" "c.457A>C" "r.(?)" "p.(Lys153Gln)" "" "" "0000654268" "00018525" "30" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(Asp84=)" "" "" "0000654269" "00018525" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Pro80=)" "" "" "0000654270" "00018525" "30" "129" "0" "129" "0" "c.129T>C" "r.(?)" "p.(Asp43=)" "" "" "0000654271" "00018525" "30" "129" "0" "129" "0" "c.129T>C" "r.(?)" "p.(Asp43=)" "" "" "0000664036" "00018525" "90" "2159" "0" "2159" "0" "c.2159T>A" "r.(?)" "p.(Ile720Lys)" "" "" "0000664037" "00018525" "90" "1376" "0" "1376" "0" "c.1376C>G" "r.(?)" "p.(Ser459*)" "" "" "0000664105" "00018525" "70" "2937" "0" "2937" "0" "c.2937del" "r.(?)" "p.(Ile979Metfs*3)" "" "" "0000664137" "00018525" "90" "1376" "0" "1376" "0" "c.1376C>G" "r.(?)" "p.(Ser459*)" "" "" "0000669523" "00018525" "30" "2359" "0" "2359" "0" "c.2359A>G" "r.(?)" "p.(Met787Val)" "" "" "0000669524" "00018525" "30" "1828" "0" "1828" "0" "c.1828C>A" "r.(?)" "p.(Pro610Thr)" "" "" "0000676086" "00018525" "30" "5923" "0" "5923" "0" "c.5923A>G" "r.(?)" "p.(Ser1975Gly)" "" "" "0000676087" "00018525" "30" "4890" "0" "4890" "0" "c.4890T>C" "r.(?)" "p.(Leu1630=)" "" "" "0000676088" "00018525" "50" "4814" "0" "4814" "0" "c.4814G>C" "r.(?)" "p.(Arg1605Thr)" "" "" "0000676089" "00018525" "30" "4622" "0" "4622" "0" "c.4622T>C" "r.(?)" "p.(Val1541Ala)" "" "" "0000676090" "00018525" "30" "4366" "-17" "4366" "-16" "c.4366-17_4366-16insA" "r.(=)" "p.(=)" "" "" "0000676091" "00018525" "50" "4288" "0" "4288" "0" "c.4288A>G" "r.(?)" "p.(Ile1430Val)" "" "" "0000676092" "00018525" "30" "3388" "0" "3388" "0" "c.3388G>A" "r.(?)" "p.(Ala1130Thr)" "" "" "0000676093" "00018525" "50" "3260" "0" "3260" "0" "c.3260T>A" "r.(?)" "p.(Leu1087Ter)" "" "" "0000676094" "00018525" "30" "1110" "0" "1110" "0" "c.1110G>A" "r.(?)" "p.(Thr370=)" "" "" "0000676095" "00018525" "30" "966" "-8" "966" "-8" "c.966-8G>A" "r.(=)" "p.(=)" "" "" "0000676096" "00018525" "50" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Val124Ala)" "" "" "0000684741" "00018525" "30" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185His)" "" "" "0000688374" "00018525" "50" "5471" "0" "5471" "0" "c.5471G>A" "r.(?)" "p.(Arg1824Gln)" "" "" "0000688375" "00018525" "50" "5410" "0" "5410" "0" "c.5410A>G" "r.(?)" "p.(Ile1804Val)" "" "" "0000688376" "00018525" "30" "4332" "0" "4332" "0" "c.4332C>T" "r.(?)" "p.(Val1444=)" "" "" "0000688377" "00018525" "50" "4303" "0" "4303" "0" "c.4303T>A" "r.(?)" "p.(Phe1435Ile)" "" "" "0000688378" "00018525" "50" "2159" "0" "2159" "0" "c.2159T>A" "r.(?)" "p.(Ile720Lys)" "" "" "0000712955" "00018525" "90" "4051" "0" "4051" "0" "c.4051del" "r.(?)" "p.(Ser1351Valfs*13)" "" "" "0000712956" "00018525" "50" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Glu694Lys)" "" "" "0000717955" "00018525" "50" "5912" "0" "5912" "0" "c.5912A>T" "r.(?)" "p.(Asp1971Val)" "" "" "0000717956" "00018525" "10" "3769" "-8" "3769" "-8" "c.3769-8T>C" "r.(=)" "p.(=)" "" "" "0000717957" "00018525" "30" "3369" "0" "3369" "0" "c.3369G>T" "r.(?)" "p.(Leu1123Phe)" "" "" "0000717958" "00018525" "30" "3195" "0" "3195" "0" "c.3195T>A" "r.(?)" "p.(Gly1065=)" "" "" "0000717959" "00018525" "50" "2133" "0" "2133" "0" "c.2133G>C" "r.(?)" "p.(Leu711Phe)" "" "" "0000717960" "00018525" "30" "1964" "0" "1964" "0" "c.1964A>G" "r.(?)" "p.(Lys655Arg)" "" "" "0000717961" "00018525" "50" "1314" "3" "1314" "3" "c.1314+3A>T" "r.spl?" "p.?" "" "" "0000717962" "00018525" "30" "829" "0" "829" "0" "c.829C>A" "r.(?)" "p.(Arg277=)" "" "" "0000717963" "00018525" "30" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(His273Tyr)" "" "" "0000717964" "00018525" "50" "558" "0" "558" "0" "c.558C>A" "r.(?)" "p.(Asp186Glu)" "" "" "0000717965" "00018525" "10" "444" "0" "444" "0" "c.444A>G" "r.(?)" "p.(Pro148=)" "" "" "0000787173" "00018525" "50" "446" "0" "446" "0" "c.446C>G" "r.(?)" "p.(Pro149Arg)" "4" "" "0000787390" "00018525" "50" "4962" "0" "4962" "0" "c.4962C>A" "r.(?)" "p.(Asn1654Lys)" "27" "" "0000787510" "00018525" "50" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185His)" "5" "" "0000799783" "00018525" "30" "4416" "0" "4416" "0" "c.4416T>C" "r.(?)" "p.(Asn1472=)" "" "" "0000799784" "00018525" "50" "3799" "0" "3799" "0" "c.3799C>G" "r.(?)" "p.(Leu1267Val)" "" "" "0000799785" "00018525" "50" "3369" "0" "3369" "0" "c.3369G>T" "r.(?)" "p.(Leu1123Phe)" "" "" "0000799786" "00018525" "50" "2299" "0" "2299" "0" "c.2299A>G" "r.(?)" "p.(Ile767Val)" "" "" "0000799787" "00018525" "50" "2159" "0" "2159" "0" "c.2159T>A" "r.(?)" "p.(Ile720Lys)" "" "" "0000799788" "00018525" "30" "1964" "0" "1964" "0" "c.1964A>G" "r.(?)" "p.(Lys655Arg)" "" "" "0000799789" "00018525" "50" "1687" "0" "1687" "0" "c.1687G>A" "r.(?)" "p.(Asp563Asn)" "" "" "0000849032" "00018525" "50" "5534" "0" "5534" "0" "c.5534T>C" "r.(?)" "p.(Met1845Thr)" "" "" "0000849033" "00018525" "10" "5212" "0" "5212" "0" "c.5212C>T" "r.(?)" "p.(Leu1738=)" "" "" "0000849034" "00018525" "30" "4890" "0" "4890" "0" "c.4890T>C" "r.(?)" "p.(Leu1630=)" "" "" "0000849035" "00018525" "30" "3316" "0" "3316" "0" "c.3316G>T" "r.(?)" "p.(Val1106Leu)" "" "" "0000849036" "00018525" "50" "2496" "0" "2496" "0" "c.2496C>A" "r.(?)" "p.(Phe832Leu)" "" "" "0000849037" "00018525" "30" "2484" "6" "2484" "6" "c.2484+6C>T" "r.(=)" "p.(=)" "" "" "0000849038" "00018525" "50" "2266" "0" "2266" "0" "c.2266C>A" "r.(?)" "p.(Pro756Thr)" "" "" "0000849039" "00018525" "30" "2052" "0" "2052" "0" "c.2052A>G" "r.(?)" "p.(Ile684Met)" "" "" "0000849040" "00018525" "30" "1947" "0" "1947" "0" "c.1947G>A" "r.(?)" "p.(Thr649=)" "" "" "0000849041" "00018525" "50" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Arg560Lys)" "" "" "0000849042" "00018525" "30" "1447" "0" "1447" "0" "c.1447A>C" "r.(?)" "p.(Lys483Gln)" "" "" "0000849043" "00018525" "10" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Ser466=)" "" "" "0000849044" "00018525" "10" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185His)" "" "" "0000849045" "00018525" "30" "183" "0" "183" "0" "c.183C>A" "r.(?)" "p.(Phe61Leu)" "" "" "0000849046" "00018525" "50" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Ala2Thr)" "" "" "0000857837" "00018525" "50" "5639" "0" "5639" "0" "c.5639T>G" "r.(?)" "p.(Val1880Gly)" "" "" "0000857838" "00018525" "30" "4635" "0" "4635" "0" "c.4635C>A" "r.(?)" "p.(Ile1545=)" "" "" "0000857839" "00018525" "30" "4282" "0" "4282" "0" "c.4282G>A" "r.(?)" "p.(Val1428Ile)" "" "" "0000857840" "00018525" "30" "3476" "0" "3476" "0" "c.3476T>C" "r.(?)" "p.(Ile1159Thr)" "" "" "0000873566" "00018525" "70" "4174" "-1" "4174" "-1" "c.4174-1G>C" "r.(?)" "p.(?)" "" "" "0000873567" "00018525" "70" "850" "0" "850" "0" "c.850del" "r.(?)" "p.(Glu284Lysfs*3)" "" "" "0000873568" "00018525" "70" "129" "0" "141" "0" "c.129_141del" "r.(?)" "p.(Asp43Glufs*43)" "" "" "0000873569" "00018525" "70" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Arg99His)" "" "" "0000873570" "00018525" "70" "2749" "0" "2749" "0" "c.2749T>G" "r.(?)" "p.(Trp917Gly)" "" "" "0000873571" "00018525" "70" "2697" "0" "2697" "0" "c.2697G>A" "r.(?)" "p.(Met899Ile)" "" "" "0000874685" "00018525" "70" "3503" "0" "3503" "0" "c.3503G>A" "r.(?)" "p.(Trp1168*)" "" "" "0000883875" "00018525" "30" "5826" "0" "5826" "0" "c.5826C>G" "r.(?)" "p.(Thr1942=)" "" "" "0000883876" "00018525" "30" "5678" "0" "5678" "0" "c.5678G>A" "r.(?)" "p.(Arg1893His)" "" "" "0000883877" "00018525" "30" "5212" "0" "5212" "0" "c.5212C>T" "r.(?)" "p.(Leu1738=)" "" "" "0000883878" "00018525" "30" "4890" "0" "4890" "0" "c.4890T>C" "r.(?)" "p.(Leu1630=)" "" "" "0000883879" "00018525" "50" "4801" "0" "4801" "0" "c.4801A>C" "r.(?)" "p.(Ile1601Leu)" "" "" "0000883881" "00018525" "30" "4272" "0" "4272" "0" "c.4272T>G" "r.(?)" "p.(Ile1424Met)" "" "" "0000883882" "00018525" "30" "4026" "0" "4026" "0" "c.4026C>T" "r.(?)" "p.(Thr1342=)" "" "" "0000883883" "00018525" "30" "3748" "0" "3748" "0" "c.3748C>T" "r.(?)" "p.(Leu1250=)" "" "" "0000883884" "00018525" "30" "3018" "0" "3018" "0" "c.3018G>C" "r.(?)" "p.(Lys1006Asn)" "" "" "0000883885" "00018525" "50" "2435" "0" "2435" "0" "c.2435T>C" "r.(?)" "p.(Leu812Pro)" "" "" "0000883886" "00018525" "10" "1942" "-3" "1942" "-3" "c.1942-3dup" "r.spl?" "p.?" "" "" "0000883887" "00018525" "10" "1941" "42" "1941" "42" "c.1941+42G>A" "r.(=)" "p.(=)" "" "" "0000883888" "00018525" "30" "1668" "0" "1668" "0" "c.1668T>C" "r.(?)" "p.(Ser556=)" "" "" "0000883889" "00018525" "30" "1554" "0" "1554" "0" "c.1554C>T" "r.(?)" "p.(Val518=)" "" "" "0000883890" "00018525" "50" "1207" "0" "1207" "0" "c.1207A>C" "r.(?)" "p.(Met403Leu)" "" "" "0000883891" "00018525" "30" "1053" "0" "1053" "0" "c.1053C>T" "r.(?)" "p.(Phe351=)" "" "" "0000883892" "00018525" "30" "390" "0" "390" "0" "c.390G>T" "r.(?)" "p.(Met130Ile)" "" "" "0000908546" "00018525" "50" "1831" "0" "1831" "0" "c.1831A>C" "r.(?)" "p.(Met611Leu)" "" "" "0000908555" "00018525" "50" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185His)" "" "" "0000911230" "00018525" "30" "4630" "0" "4630" "0" "c.4630A>G" "r.(?)" "p.(Ile1544Val)" "" "" "0000911231" "00018525" "30" "4462" "0" "4462" "0" "c.4462C>A" "r.(?)" "p.(Arg1488=)" "" "" "0000911232" "00018525" "30" "4164" "0" "4164" "0" "c.4164G>A" "r.(?)" "p.(Leu1388=)" "" "" "0000911233" "00018525" "30" "2987" "0" "2987" "0" "c.2987G>A" "r.(?)" "p.(Arg996His)" "" "" "0000911234" "00018525" "50" "2318" "0" "2318" "0" "c.2318C>G" "r.(?)" "p.(Thr773Ser)" "" "" "0000911235" "00018525" "50" "1726" "0" "1726" "0" "c.1726A>G" "r.(?)" "p.(Ser576Gly)" "" "" "0000911236" "00018525" "30" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Glu519Lys)" "" "" "0000911237" "00018525" "30" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Glu519Lys)" "" "" "0000921083" "00018525" "70" "596" "1" "596" "1" "c.596+1del" "r.spl" "p.?" "5i" "" "0000923336" "00018525" "50" "5007" "0" "5007" "0" "c.5007T>A" "r.(?)" "p.(Asn1669Lys)" "" "" "0000923337" "00018525" "10" "3448" "0" "3448" "0" "c.3448=" "r.(=)" "p.(Arg1150=)" "" "" "0000923338" "00018525" "50" "1207" "0" "1207" "0" "c.1207A>C" "r.(?)" "p.(Met403Leu)" "" "" "0000923339" "00018525" "50" "1094" "0" "1094" "0" "c.1094A>G" "r.(?)" "p.(Asn365Ser)" "" "" "0000928303" "00018525" "30" "4040" "0" "4040" "0" "c.4040G>A" "r.(?)" "p.(Arg1347Gln)" "" "" "0000928304" "00018525" "30" "1942" "-8" "1942" "-8" "c.1942-8T>A" "r.(=)" "p.(=)" "" "" "0000928305" "00018525" "50" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Gly616Arg)" "" "" "0000928306" "00018525" "50" "1307" "0" "1307" "0" "c.1307A>C" "r.(?)" "p.(Glu436Ala)" "" "" "0000928307" "00018525" "30" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Leu131=)" "" "" "0000928308" "00018525" "50" "323" "0" "323" "0" "c.323T>A" "r.(?)" "p.(Met108Lys)" "" "" "0000935944" "00018525" "90" "2152" "0" "2152" "0" "c.2152T>C" "r.(?)" "p.(Tyr718His)" "" "" "0000935955" "00018525" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214*)" "" "" "0000947396" "00018525" "30" "5746" "0" "5746" "0" "c.5746C>T" "r.(?)" "p.(Leu1916Phe)" "" "" "0000947397" "00018525" "30" "5340" "0" "5340" "0" "c.5340C>T" "r.(?)" "p.(Pro1780=)" "" "" "0000947398" "00018525" "10" "4741" "221" "4741" "221" "c.4741+221A>G" "r.(=)" "p.(=)" "" "" "0000947399" "00018525" "10" "4365" "99" "4365" "99" "c.4365+99A>G" "r.(=)" "p.(=)" "" "" "0000947400" "00018525" "10" "3769" "-8" "3769" "-8" "c.3769-8T>C" "r.(=)" "p.(=)" "" "" "0000947401" "00018525" "50" "2488" "0" "2488" "0" "c.2488C>G" "r.(?)" "p.(Arg830Gly)" "" "" "0000947402" "00018525" "50" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Glu582Lys)" "" "" "0000961415" "00018525" "30" "2072" "-17" "2072" "-17" "c.2072-17C>A" "r.(=)" "p.(=)" "" "" "0000961417" "00018525" "50" "1099" "0" "1099" "0" "c.1099T>C" "r.(?)" "p.(Tyr367His)" "" "" "0000961419" "00018525" "50" "20" "0" "20" "0" "c.20C>T" "r.(?)" "p.(Pro7Leu)" "" "" "0000974425" "00018525" "50" "5384" "0" "5384" "0" "c.5384C>T" "r.(?)" "p.(Ala1795Val)" "" "" "0000974426" "00018525" "50" "4844" "0" "4844" "0" "c.4844G>C" "r.(?)" "p.(Gly1615Ala)" "" "" "0000974427" "00018525" "30" "3473" "0" "3473" "0" "c.3473A>C" "r.(?)" "p.(Asn1158Thr)" "" "" "0000974428" "00018525" "30" "3370" "0" "3370" "0" "c.3370C>T" "r.(?)" "p.(Pro1124Ser)" "" "" "0000974429" "00018525" "50" "3358" "0" "3358" "0" "c.3358G>T" "r.(?)" "p.(Asp1120Tyr)" "" "" "0000974430" "00018525" "50" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Leu20Phe)" "" "" "0000991783" "00018525" "50" "4690" "0" "4690" "0" "c.4690A>G" "r.(?)" "p.(Thr1564Ala)" "" "" "0000991784" "00018525" "50" "3296" "0" "3296" "0" "c.3296C>T" "r.(?)" "p.(Ser1099Leu)" "" "" "0000991785" "00018525" "50" "2617" "0" "2617" "0" "c.2617G>A" "r.(?)" "p.(Gly873Ser)" "" "" "0000991786" "00018525" "30" "2428" "0" "2428" "0" "c.2428G>A" "r.(?)" "p.(Val810Met)" "" "" "0000991787" "00018525" "10" "2404" "0" "2404" "0" "c.2404A>G" "r.(?)" "p.(Ser802Gly)" "" "" "0000991788" "00018525" "30" "1921" "0" "1921" "0" "c.1921A>T" "r.(?)" "p.(Asn641Tyr)" "" "" "0000991789" "00018525" "30" "1314" "3" "1314" "3" "c.1314+3A>T" "r.spl?" "p.?" "" "" "0000991790" "00018525" "30" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429His)" "" "" "0000991791" "00018525" "30" "1020" "0" "1020" "0" "c.1020C>G" "r.(?)" "p.(Gly340=)" "" "" "0000991792" "00018525" "30" "1005" "0" "1005" "0" "c.1005A>T" "r.(?)" "p.(Arg335Ser)" "" "" "0000991793" "00018525" "50" "220" "0" "220" "0" "c.220C>G" "r.(?)" "p.(Pro74Ala)" "" "" "0000991794" "00018525" "30" "213" "0" "213" "0" "c.213G>A" "r.(?)" "p.(Val71=)" "" "" "0001013403" "00018525" "50" "5912" "0" "5912" "0" "c.5912A>T" "r.(?)" "p.(Asp1971Val)" "" "" "0001013404" "00018525" "50" "4533" "0" "4533" "0" "c.4533G>A" "r.(?)" "p.(Met1511Ile)" "" "" "0001013405" "00018525" "50" "3296" "0" "3296" "0" "c.3296C>T" "r.(?)" "p.(Ser1099Leu)" "" "" "0001013406" "00018525" "30" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Leu393=)" "" "" "0001024256" "00018525" "30" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(His125=)" "" "" "0001032482" "00018525" "30" "59479" "0" "59479" "0" "c.*53545G>A" "r.(=)" "p.(=)" "" "" "0001032483" "00018525" "10" "4077" "0" "4077" "0" "c.4077T>C" "r.(?)" "p.(Cys1359=)" "" "" "0001032484" "00018525" "10" "3329" "0" "3329" "0" "c.3329G>A" "r.(?)" "p.(Arg1110Gln)" "" "" "0001032485" "00018525" "30" "3124" "0" "3124" "0" "c.3124C>T" "r.(?)" "p.(Leu1042Phe)" "" "" "0001032486" "00018525" "50" "2825" "0" "2825" "0" "c.2825T>G" "r.(?)" "p.(Val942Gly)" "" "" "0001032487" "00018525" "50" "2680" "0" "2680" "0" "c.2680C>T" "r.(?)" "p.(Leu894Phe)" "" "" "0001032488" "00018525" "30" "2376" "0" "2376" "0" "c.2376T>C" "r.(?)" "p.(=)" "" "" "0001032489" "00018525" "50" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Arg597Gln)" "" "" "0001032490" "00018525" "30" "1099" "0" "1099" "0" "c.1099T>C" "r.(?)" "p.(Tyr367His)" "" "" "0001032491" "00018525" "50" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "" "" "0001045719" "00018525" "30" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Gly69Ser)" "" "" "0001050861" "00018525" "50" "3673" "0" "3673" "0" "c.3673A>G" "r.(?)" "p.(Ile1225Val)" "" "" "0001050862" "00018525" "50" "2266" "0" "2266" "0" "c.2266C>A" "r.(?)" "p.(Pro756Thr)" "" "" "0001050863" "00018525" "50" "2159" "0" "2159" "0" "c.2159T>A" "r.(?)" "p.(Ile720Lys)" "" "" "0001050864" "00018525" "50" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Cys)" "" "" "0001057750" "00018525" "70" "1828" "0" "1828" "0" "c.1828C>A" "r.(?)" "p.(Pro610Thr)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 165 "{{screeningid}}" "{{variantid}}" "0000016257" "0000036004" "0000037026" "0000064151" "0000037027" "0000064152" "0000037028" "0000064153" "0000037029" "0000064154" "0000037030" "0000064155" "0000037031" "0000064156" "0000037032" "0000064157" "0000037033" "0000064158" "0000037034" "0000064159" "0000037035" "0000064160" "0000037036" "0000064161" "0000037037" "0000064162" "0000037038" "0000064163" "0000037039" "0000064164" "0000037040" "0000064165" "0000037041" "0000064166" "0000037042" "0000064167" "0000037043" "0000064168" "0000037044" "0000064169" "0000037045" "0000064170" "0000037046" "0000064171" "0000037047" "0000064172" "0000037048" "0000064173" "0000037049" "0000064174" "0000037050" "0000064175" "0000037051" "0000064176" "0000037052" "0000064177" "0000037053" "0000064178" "0000037054" "0000064179" "0000037055" "0000064180" "0000037056" "0000064181" "0000037057" "0000064182" "0000037058" "0000064183" "0000037059" "0000064184" "0000037060" "0000064185" "0000037061" "0000064186" "0000037062" "0000064187" "0000037063" "0000064188" "0000037064" "0000064189" "0000037065" "0000064190" "0000050418" "0000079398" "0000080972" "0000130058" "0000117270" "0000188548" "0000117276" "0000188121" "0000117327" "0000188172" "0000117333" "0000188459" "0000117361" "0000188206" "0000117364" "0000188209" "0000117372" "0000188470" "0000117373" "0000188471" "0000117409" "0000188480" "0000117431" "0000188485" "0000117444" "0000188289" "0000117455" "0000188300" "0000117467" "0000188312" "0000117469" "0000188501" "0000117510" "0000188341" "0000117534" "0000188530" "0000117556" "0000188396" "0000117566" "0000188409" "0000117570" "0000188541" "0000152904" "0000351740" "0000152905" "0000351741" "0000152906" "0000351742" "0000152907" "0000351744" "0000152908" "0000351745" "0000152909" "0000351746" "0000152911" "0000351749" "0000152911" "0000351750" "0000152912" "0000351751" "0000152913" "0000351752" "0000152915" "0000351754" "0000152916" "0000351755" "0000152917" "0000351756" "0000152918" "0000351757" "0000152919" "0000351758" "0000152920" "0000351759" "0000152921" "0000351760" "0000152922" "0000351761" "0000152923" "0000351762" "0000152924" "0000351763" "0000152925" "0000351764" "0000152926" "0000351765" "0000152927" "0000351766" "0000152928" "0000351767" "0000152929" "0000351768" "0000152930" "0000351769" "0000152931" "0000351770" "0000152932" "0000351771" "0000152933" "0000351772" "0000152934" "0000351773" "0000152935" "0000351774" "0000152936" "0000351775" "0000152937" "0000351776" "0000152938" "0000351777" "0000152939" "0000351778" "0000152940" "0000351779" "0000152941" "0000351780" "0000152942" "0000351781" "0000152943" "0000351782" "0000152944" "0000351783" "0000152945" "0000351784" "0000152946" "0000351785" "0000152947" "0000351786" "0000152948" "0000351787" "0000152949" "0000351788" "0000152950" "0000351789" "0000152951" "0000351790" "0000152952" "0000351791" "0000152953" "0000351792" "0000152954" "0000351793" "0000152955" "0000351794" "0000152956" "0000351795" "0000152957" "0000351796" "0000152958" "0000351797" "0000152959" "0000351798" "0000152960" "0000351799" "0000152961" "0000351800" "0000152962" "0000351801" "0000152963" "0000351802" "0000152964" "0000351803" "0000152973" "0000351812" "0000152974" "0000351813" "0000152975" "0000351814" "0000152976" "0000351815" "0000152977" "0000351816" "0000155879" "0000357710" "0000211243" "0000442704" "0000220117" "0000455010" "0000270643" "0000604479" "0000277179" "0000631923" "0000293504" "0000650193" "0000293505" "0000650194" "0000293506" "0000650195" "0000293507" "0000650196" "0000293508" "0000650197" "0000293509" "0000650198" "0000293510" "0000650199" "0000293511" "0000650200" "0000301141" "0000664036" "0000301142" "0000664037" "0000301210" "0000664105" "0000301242" "0000664137" "0000305835" "0000669523" "0000305836" "0000669524" "0000309839" "0000684741" "0000328834" "0000712955" "0000328834" "0000712956" "0000375623" "0000787510" "0000375822" "0000787173" "0000376039" "0000787390" "0000415704" "0000873566" "0000415705" "0000873567" "0000415705" "0000873568" "0000415706" "0000873569" "0000415706" "0000873570" "0000415707" "0000873571" "0000416557" "0000874685" "0000429124" "0000908546" "0000429133" "0000908555" "0000435141" "0000921083" "0000439815" "0000935944" "0000439826" "0000935955" "0000469708" "0001057750"