### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNH2) # 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}}" "KCNH2" "potassium voltage-gated channel, subfamily H (eag-related), member 2" "7" "q36.1" "unknown" "LRG_288" "UD_132118363433" "" "" "" "1" "6251" "3757" "152427" "1" "1" "1" "1" "Alias: HERG.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KCNH2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-30 11:43:15" "00000" "2025-08-07 08:55:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010358" "KCNH2" "transcript variant 1" "001" "NM_000238.3" "" "NP_000229.1" "" "" "" "-401" "3889" "3480" "150675402" "150642044" "" "0000-00-00 00:00:00" "" "" "00025348" "KCNH2" "transcript variant 3" "003" "NM_172057.2" "" "NP_742054.1" "" "" "" "-326" "2869" "2460" "150652917" "150642044" "00006" "2018-12-14 16:25:08" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 17 "{{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" "" "" "00118" "BRGDA1" "Brugada syndrome, type 1 (BRGDA-1)" "AD" "601144" "" "" "" "00001" "2013-03-14 10:02:00" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00404" "LQT" "QT syndrome, long (LQT)" "" "" "" "" "" "00006" "2014-06-06 17:35:42" "00006" "2015-07-04 16:01:55" "00405" "LQT2" "QT syndrome, long, type 2 (LQT-2)" "AD" "613688" "" "" "" "00006" "2014-06-06 18:11:29" "00006" "2021-12-10 21:51:32" "00614" "MRD20" "mental retardation, autosomal dominant, type 20 (MRD20)" "AD" "613443" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-06 18:59:00" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02354" "-" "stroke, ischemic, susceptibility to" "Mu" "601367" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02862" "SQT1" "QT syndrome, short, type 1 (SQT-1)" "" "609620" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05104" "-" "neuropathy, peripheral" "" "" "" "" "" "00006" "2015-12-05 03:05:09" "" "" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KCNH2" "00405" "KCNH2" "02862" ## Individuals ## Do not remove or alter this header ## ## Count = 862 "{{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}}" "00004242" "" "" "" "1" "" "00066" "{PMID:Riuro 2014:24667783}" "" "" "" "" "" "0" "" "" "" "" "00004243" "" "" "" "1" "" "00066" "{PMID:Riuro 2014:24667783}" "" "" "" "" "" "0" "" "" "" "" "00004244" "" "" "" "1" "" "00066" "{PMID:Riuro 2014:24667783}" "" "" "" "" "" "0" "" "" "" "" "00004245" "" "" "" "1" "" "00066" "{PMID:Riuro 2014:24667783}" "5-generation family, 7 affecteds" "" "" "" "" "0" "" "" "" "" "00004246" "" "" "" "1" "" "00066" "{PMID:Riuro 2014:24667783}" "" "" "" "" "" "0" "" "" "" "" "00004247" "" "" "" "1" "" "00066" "{PMID:Riuro 2014:24667783}" "" "" "" "" "" "0" "" "" "" "" "00004248" "" "" "" "1" "" "00066" "{PMID:Riuro 2014:24667783}" "" "" "" "" "" "0" "" "" "" "" "00004249" "" "" "" "1" "" "00066" "{PMID:Riuro 2014:24667783}" "3-generation family, 1 affected, 2 unaffected carriers not carrying c.1838C>T" "" "" "" "" "0" "" "" "" "" "00004250" "" "" "" "1" "" "00066" "{PMID:Riuro 2014:24667783}" "" "" "" "" "" "0" "" "" "" "" "00049515" "" "" "" "3" "" "01348" "B0424" "2-generation family, 0M, 3F" "" "" "France" "" "0" "" "" "" "" "00049516" "" "" "" "4" "" "01348" "B1393" "2-generation family, 0M, 4F" "" "" "France" "" "0" "" "" "" "" "00049517" "" "" "" "9" "" "01348" "Fam876" "3-generation family, 3M, 6F" "" "" "Germany" "" "0" "" "" "" "" "00049518" "" "" "" "4" "" "01348" "Fam699" "2-generation family, 2M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049519" "" "" "" "3" "" "01348" "Fam140" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049520" "" "" "" "3" "" "01348" "B0161" "2-generation family, 2M, 1F" "" "" "France" "" "0" "" "" "" "" "00049521" "" "" "" "2" "" "01348" "Fam917" "2-generation family, 2M, 0F" "" "" "Germany" "" "0" "" "" "" "" "00049522" "" "" "" "3" "" "01348" "Fam72" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049523" "" "" "" "6" "" "01348" "G11296" "3-generation family, 3M, 3F" "" "" "France" "" "0" "" "" "" "" "00049524" "" "" "" "3" "" "01348" "Fam312" "3-generation family, 1M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049525" "" "" "" "2" "" "01348" "B0911" "2-generation family, 0M, 2F" "" "" "France" "" "0" "" "" "" "" "00049526" "" "" "" "8" "" "01348" "G9979" "3-generation family, 5M, 3F" "" "" "France" "" "0" "" "" "" "" "00049527" "" "" "" "2" "" "01348" "Fam74" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049528" "" "" "" "4" "" "01348" "Fam294" "2-generation family, 1M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049529" "" "" "" "3" "" "01348" "Fam522" "2-generation family, 1M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049530" "" "" "" "2" "" "01348" "Fam28" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049531" "" "" "" "3" "" "01348" "Fam90" "2-generation family, 2M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049532" "" "" "" "3" "" "01348" "Fam160" "2-generation family, 0M, 3F" "" "" "Japan" "" "0" "" "" "" "" "00049533" "" "" "" "4" "" "01348" "G14227" "2-generation family, 2M, 2F" "" "" "France" "" "0" "" "" "" "" "00049534" "" "" "" "2" "" "01348" "Fam36" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049535" "" "" "" "6" "" "01348" "P60.011" "3-generation family, 0M, 6F" "" "" "Netherlands" "" "0" "" "" "" "" "00049536" "" "" "" "2" "" "01348" "Fam452" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049537" "" "" "" "2" "" "01348" "Fam680" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049538" "" "" "" "14" "" "01348" "Fam760" "3-generation family, 6M, 8F" "" "" "Germany" "" "0" "" "" "" "" "00049539" "" "" "" "2" "" "01348" "Fam57" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049540" "" "" "" "5" "" "01348" "B0475" "3-generation family, 1M, 4F" "" "" "France" "" "0" "" "" "" "" "00049541" "" "" "" "6" "" "01348" "P72.459" "3-generation family, 3M, 3F" "" "" "Netherlands" "" "0" "" "" "" "" "00049542" "" "" "" "2" "" "01348" "M3139" "2-generation family, 0M, 2F" "" "" "Netherlands" "" "0" "" "" "" "" "00049543" "" "" "" "4" "" "01348" "Fam525" "2-generation family, 2M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049544" "" "" "" "2" "" "01348" "B1079" "2-generation family, 1M, 1F" "" "" "France" "" "0" "" "" "" "" "00049545" "" "" "" "13" "" "01348" "P56268" "3-generation family, 9M, 4F" "" "" "Netherlands" "" "0" "" "" "" "" "00049546" "" "" "" "4" "" "01348" "G12704" "2-generation family, 0M, 4F" "" "" "France" "" "0" "" "" "" "" "00049547" "" "" "" "2" "" "01348" "Fam162" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049548" "" "" "" "3" "" "01348" "Fam71" "2-generation family, 0M, 3F" "" "" "Japan" "" "0" "" "" "" "" "00049549" "" "" "" "2" "" "01348" "Fam580" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049550" "" "" "" "4" "" "01348" "Fam113" "3-generation family, 3M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049551" "" "" "" "2" "" "01348" "Fam35" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049552" "" "" "" "4" "" "01348" "B0764" "2-generation family, 3M, 1F" "" "" "France" "" "0" "" "" "" "" "00049553" "" "" "" "3" "" "01348" "B0633" "2-generation family, 1M, 2F" "" "" "France" "" "0" "" "" "" "" "00049554" "" "" "" "2" "" "01348" "Fam85" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049555" "" "" "" "2" "" "01348" "Fam117" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049556" "" "" "" "2" "" "01348" "B0179" "2-generation family, 0M, 2F" "" "" "France" "" "0" "" "" "" "" "00049557" "" "" "" "4" "" "01348" "B0508" "2-generation family, 1M, 3F" "" "" "France" "" "0" "" "" "" "" "00049558" "" "" "" "3" "" "01348" "Fam126" "2-generation family, 2M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049559" "" "" "" "3" "" "01348" "Fam12" "3-generation family, 0M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049560" "" "" "" "2" "" "01348" "Fam434" "2-generation family, 0M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049561" "" "" "" "3" "" "01348" "Fam40" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049562" "" "" "" "3" "" "01348" "Fam795" "2-generation family, 2M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049563" "" "" "" "4" "" "01348" "Fam112" "2-generation family, 4M, 0F" "" "" "Japan" "" "0" "" "" "" "" "00049564" "" "" "" "8" "" "01348" "P080.982" "2-generation family, 4M, 4F" "" "" "Netherlands" "" "0" "" "" "" "" "00049565" "" "" "" "4" "" "01348" "Fam158" "3-generation family, 0M, 4F" "" "" "Japan" "" "0" "" "" "" "" "00049566" "" "" "" "2" "" "01348" "Fam335" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049567" "" "" "" "7" "" "01348" "P62.997" "2-generation family, 3M, 4F" "" "" "Netherlands" "" "0" "" "" "" "" "00049568" "" "" "" "2" "" "01348" "Fam94" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049569" "" "" "" "5" "" "01348" "Fam48" "3-generation family, 2M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049570" "" "" "" "3" "" "01348" "P74.854" "2-generation family, 3M, 0F" "" "" "Netherlands" "" "0" "" "" "" "" "00049571" "" "" "" "5" "" "01348" "Fam537" "2-generation family, 1M, 4F" "" "" "Germany" "" "0" "" "" "" "" "00049572" "" "" "" "2" "" "01348" "Fam853" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049573" "" "" "" "2" "" "01348" "Fam118" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049574" "" "" "" "3" "" "01348" "G8007" "2-generation family, 1M, 2F" "" "" "France" "" "0" "" "" "" "" "00049575" "" "" "" "3" "" "01348" "Fam75" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049576" "" "" "" "11" "" "01348" "B0307" "3-generation family, 6M, 5F" "" "" "France" "" "0" "" "" "" "" "00049577" "" "" "" "2" "" "01348" "G3009" "2-generation family, 2M, 0F" "" "" "France" "" "0" "" "" "" "" "00049578" "" "" "" "4" "" "01348" "Fam83" "3-generation family, 2M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049579" "" "" "" "3" "" "01348" "Fam46" "2-generation family, 2M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049580" "" "" "" "2" "" "01348" "Fam226" "2-generation family, 1M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049581" "" "" "" "25" "" "01348" "G9975" "3-generation family, 11M, 14F" "" "" "France" "" "0" "" "" "" "" "00049582" "" "" "" "13" "" "01348" "P061.890" "3-generation family, 5M, 8F" "" "" "Netherlands" "" "0" "" "" "" "" "00049583" "" "" "" "2" "" "01348" "Fam9" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049584" "" "" "" "3" "" "01348" "Fam123" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049585" "" "" "" "2" "" "01348" "Fam102" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049586" "" "" "" "3" "" "01348" "Fam159" "2-generation family, 2M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049587" "" "" "" "2" "" "01348" "Fam153" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049588" "" "" "" "2" "" "01348" "Fam52" "2-generation family, 0M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049589" "" "" "" "13" "" "01348" "B0075" "3-generation family, 9M, 4F" "" "" "France" "" "0" "" "" "" "" "00049590" "" "" "" "6" "" "01348" "B0287" "3-generation family, 3M, 3F" "" "" "France" "" "0" "" "" "" "" "00049591" "" "" "" "2" "" "01348" "B0213" "2-generation family, 1M, 1F" "" "" "France" "" "0" "" "" "" "" "00049592" "" "" "" "3" "" "01348" "B0700" "2-generation family, 2M, 1F" "" "" "France" "" "0" "" "" "" "" "00049593" "" "" "" "2" "" "01348" "Fam144" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049594" "" "" "" "2" "" "01348" "Fam103" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049595" "" "" "" "3" "" "01348" "Fam8" "3-generation family, 1M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049596" "" "" "" "2" "" "01348" "Fam38" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049597" "" "" "" "2" "" "01348" "Fam150" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049598" "" "" "" "3" "" "01348" "Fam12" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049599" "" "" "" "6" "" "01348" "B0060" "3-generation family, 1M, 5F" "" "" "France" "" "0" "" "" "" "" "00049600" "" "" "" "2" "" "01348" "Fam116" "2-generation family, 1M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049601" "" "" "" "3" "" "01348" "Fam836" "2-generation family, 0M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049602" "" "" "" "3" "" "01348" "P080.639" "3-generation family, 8M, 4F" "" "" "Netherlands" "" "0" "" "" "" "" "00049603" "" "" "" "12" "" "01348" "Fam11" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049604" "" "" "" "2" "" "01348" "Fam83" "2-generation family, 3M, 0F" "" "" "Japan" "" "0" "" "" "" "" "00049605" "" "" "" "5" "" "01348" "B0241" "3-generation family, 3M, 2F" "" "" "France" "" "0" "" "" "" "" "00049606" "" "" "" "7" "" "01348" "Fam121" "3-generation family, 2M, 5F" "" "" "Germany" "" "0" "" "" "" "" "00049607" "" "" "" "4" "" "01348" "P56.915" "2-generation family, 2M, 2F" "" "" "Netherlands" "" "0" "" "" "" "" "00049608" "" "" "" "5" "" "01348" "G2854" "2-generation family, 2M, 3F" "" "" "France" "" "0" "" "" "" "" "00049609" "" "" "" "2" "" "01348" "Fam80" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049610" "" "" "" "13" "" "01348" "Fam19" "3-generation family, 10M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049611" "" "" "" "3" "" "01348" "Fam262" "3-generation family, 1M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049612" "" "" "" "2" "" "01348" "Fam539" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049613" "" "" "" "3" "" "01348" "B0022" "2-generation family, 2M, 1F" "" "" "France" "" "0" "" "" "" "" "00049614" "" "" "" "2" "" "01348" "Fam14" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049615" "" "" "" "2" "" "01348" "Fam47" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049616" "" "" "" "2" "" "01348" "B0294" "2-generation family, 0M, 2F" "" "" "France" "" "0" "" "" "" "" "00049617" "" "" "" "9" "" "01348" "B0360" "3-generation family, 7M, 2F" "" "" "France" "" "0" "" "" "" "" "00049618" "" "" "" "3" "" "01348" "Fam305" "2-generation family, 2M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049619" "" "" "" "4" "" "01348" "Fam621" "2-generation family, 1M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049620" "" "" "" "2" "" "01348" "G22131" "2-generation family, 0M, 2F" "" "" "France" "" "0" "" "" "" "" "00049621" "" "" "" "2" "" "01348" "B0351" "2-generation family, 1M, 1F" "" "" "France" "" "0" "" "" "" "" "00049622" "" "" "" "3" "" "01348" "Fam219" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049623" "" "" "" "3" "" "01348" "Fam336" "2-generation family, 2M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049624" "" "" "" "2" "" "01348" "Fam136" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049625" "" "" "" "4" "" "01348" "Fam261" "2-generation family, 2M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049626" "" "" "" "3" "" "01348" "Fam19" "3-generation family, 0M, 3F" "" "" "Japan" "" "0" "" "" "" "" "00049627" "" "" "" "3" "" "01348" "B1550" "2-generation family, 2M, 1F" "" "" "France" "" "0" "" "" "" "" "00049628" "" "" "" "17" "" "01348" "P67.597" "3-generation family, 7M, 10F" "" "" "Netherlands" "" "0" "" "" "" "" "00049629" "" "" "" "3" "" "01348" "Fam629" "2-generation family, 2M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049630" "" "" "" "4" "" "01348" "Fam780" "2-generation family, 4M, 0F" "" "" "Japan" "" "0" "" "" "" "" "00049631" "" "" "" "5" "" "01348" "P56.481" "3-generation family, 1M, 4F" "" "" "Netherlands" "" "0" "" "" "" "" "00049632" "" "" "" "13" "" "01348" "P082.265" "3-generation family, 4M, 9F" "" "" "Netherlands" "" "0" "" "" "" "" "00049633" "" "" "" "7" "" "01348" "P087.181" "3-generation family, 2M, 5F" "" "" "Netherlands" "" "0" "" "" "" "" "00049634" "" "" "" "2" "" "01348" "Fam244" "2-generation family, 2M, 0F" "" "" "Japan" "" "0" "" "" "" "" "00049635" "" "" "" "2" "" "01348" "Fam300" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049636" "" "" "" "2" "" "01348" "Fam127" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049637" "" "" "" "2" "" "01348" "Fam13" "2-generation family, 1M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049638" "" "" "" "2" "" "01348" "Fam137" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049639" "" "" "" "8" "" "01348" "B0579" "3-generation family, 5M, 3F" "" "" "France" "" "0" "" "" "" "" "00049640" "" "" "" "2" "" "01348" "Fam1058" "2-generation family, 1M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049641" "" "" "" "6" "" "01348" "Fam45" "3-generation family, 2M, 4F" "" "" "Japan" "" "0" "" "" "" "" "00049642" "" "" "" "3" "" "01348" "Fam683" "2-generation family, 0M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049643" "" "" "" "3" "" "01348" "Fam32" "3-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049644" "" "" "" "5" "" "01348" "Fam72" "2-generation family, 4M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049645" "" "" "" "4" "" "01348" "B0439" "2-generation family, 2M, 2F" "" "" "France" "" "0" "" "" "" "" "00049646" "" "" "" "2" "" "01348" "Fam22" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049647" "" "" "" "2" "" "01348" "Fam80" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049648" "" "" "" "3" "" "01348" "Fam800" "3-generation family, 2M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049649" "" "" "" "2" "" "01348" "Fam33" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049650" "" "" "" "3" "" "01348" "Fam115" "2-generation family, 2M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049651" "" "" "" "5" "" "01348" "Fam3" "3-generation family, 2M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049652" "" "" "" "2" "" "01348" "Fam77" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049653" "" "" "" "3" "" "01348" "Fam34" "2-generation family, 2M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049654" "" "" "" "3" "" "01348" "Fam920" "2-generation family, 2M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049655" "" "" "" "3" "" "01348" "Fam109" "3-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049656" "" "" "" "2" "" "01348" "B0114" "2-generation family, 1M, 1F" "" "" "France" "" "0" "" "" "" "" "00049657" "" "" "" "6" "" "01348" "B0193" "2-generation family, 1M, 5F" "" "" "France" "" "0" "" "" "" "" "00049658" "" "" "" "2" "" "01348" "B0543" "2-generation family, 1M, 1F" "" "" "France" "" "0" "" "" "" "" "00049659" "" "" "" "2" "" "01348" "Fam395" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049660" "" "" "" "7" "" "01348" "G10647" "3-generation family, 3M, 4F" "" "" "France" "" "0" "" "" "" "" "00049661" "" "" "" "3" "" "01348" "Fam111" "2-generation family, 1M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049662" "" "" "" "6" "" "01348" "B0746" "3-generation family, 1M, 5F" "" "" "France" "" "0" "" "" "" "" "00049663" "" "" "" "3" "" "01348" "G2786" "2-generation family, 1M, 2F" "" "" "France" "" "0" "" "" "" "" "00049664" "" "" "" "3" "" "01348" "G11463" "2-generation family, 1M, 2F" "" "" "France" "" "0" "" "" "" "" "00049665" "" "" "" "9" "" "01348" "P61.619" "3-generation family, 4M, 5F" "" "" "Netherlands" "" "0" "" "" "" "" "00049666" "" "" "" "2" "" "01348" "Fam49" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049667" "" "" "" "4" "" "01348" "P106008" "3-generation family, 2M, 2F" "" "" "Netherlands" "" "0" "" "" "" "" "00049668" "" "" "" "4" "" "01348" "Fam821" "3-generation family, 1M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049669" "" "" "" "2" "" "01348" "Fam124" "2-generation family, 1M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049670" "" "" "" "3" "" "01348" "Fam440" "3-generation family, 1M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049671" "" "" "" "2" "" "01348" "Fam106" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049672" "" "" "" "2" "" "01348" "Fam131" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049673" "" "" "" "2" "" "01348" "Fam71" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049674" "" "" "" "2" "" "01348" "B0002" "2-generation family, 0M, 2F" "" "" "France" "" "0" "" "" "" "" "00049675" "" "" "" "4" "" "01348" "Fam832" "2-generation family, 0M, 4F" "" "" "Germany" "" "0" "" "" "" "" "00049676" "" "" "" "2" "" "01348" "B0279" "2-generation family, 1M, 1F" "" "" "France" "" "0" "" "" "" "" "00049677" "" "" "" "2" "" "01348" "Fam998" "2-generation family, 0M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049678" "" "" "" "2" "" "01348" "Fam1" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049679" "" "" "" "3" "" "01348" "P63235" "3-generation family, 1M, 2F" "" "" "Netherlands" "" "0" "" "" "" "" "00049680" "" "" "" "5" "" "01348" "P68.440" "3-generation family, 3M, 2F" "" "" "Netherlands" "" "0" "" "" "" "" "00049681" "" "" "" "2" "" "01348" "Fam10" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049682" "" "" "" "4" "" "01348" "Fam76" "2-generation family, 0M, 4F" "" "" "Japan" "" "0" "" "" "" "" "00049683" "" "" "" "6" "" "01348" "G11499" "3-generation family, 5M, 1F" "" "" "France" "" "0" "" "" "" "" "00049684" "" "" "" "3" "" "01348" "G12012" "2-generation family, 1M, 2F" "" "" "France" "" "0" "" "" "" "" "00049685" "" "" "" "3" "" "01348" "Fam169" "2-generation family, 2M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049686" "" "" "" "2" "" "01348" "G11475" "2-generation family, 0M, 2F" "" "" "France" "" "0" "" "" "" "" "00049687" "" "" "" "2" "" "01348" "Fam356" "2-generation family, 1M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049688" "" "" "" "5" "" "01348" "Fam147" "3-generation family, 0M, 5F" "" "" "Germany" "" "0" "" "" "" "" "00049689" "" "" "" "2" "" "01348" "Fam595" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049690" "" "" "" "4" "" "01348" "Fam34" "2-generation family, 2M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049691" "" "" "" "3" "" "01348" "Fam52" "3-generation family, 3M, 0F" "" "" "Japan" "" "0" "" "" "" "" "00049692" "" "" "" "4" "" "01348" "Fam8" "3-generation family, 3M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049693" "" "" "" "2" "" "01348" "P69.052" "2-generation family, 1M, 1F" "" "" "Netherlands" "" "0" "" "" "" "" "00049694" "" "" "" "2" "" "01348" "P60921" "3-generation family, 0M, 2F" "" "" "Netherlands" "" "0" "" "" "" "" "00049695" "" "" "" "2" "" "01348" "Fam709" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049696" "" "" "" "3" "" "01348" "B0094" "2-generation family, 1M, 2F" "" "" "France" "" "0" "" "" "" "" "00049697" "" "" "" "2" "" "01348" "Fam50" "2-generation family, 0M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049698" "" "" "" "2" "" "01348" "B0157" "2-generation family, 0M, 2F" "" "" "France" "" "0" "" "" "" "" "00049699" "" "" "" "2" "" "01348" "P73.920" "2-generation family, 1M, 1F" "" "" "Netherlands" "" "0" "" "" "" "" "00049700" "" "" "" "3" "" "01348" "Fam100" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049701" "" "" "" "18" "" "01348" "Fam9" "3-generation family, 9M, 9F" "" "" "Germany" "" "0" "" "" "" "" "00049702" "" "" "" "27" "" "01348" "u55739" "3-generation family, 14M, 13F" "" "" "Netherlands" "" "0" "" "" "" "" "00049703" "" "" "" "23" "" "01348" "82.926" "3-generation family, 9M, 14F" "" "" "Netherlands" "" "0" "" "" "" "" "00049704" "" "" "" "3" "" "01348" "P099968" "2-generation family, 0M, 3F" "" "" "Netherlands" "" "0" "" "" "" "" "00049705" "" "" "" "2" "" "01348" "Fam807" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049706" "" "" "" "3" "" "01348" "Fam118" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049707" "" "" "" "23" "" "01348" "Fam743" "3-generation family, 14M, 9F" "" "" "Germany" "" "0" "" "" "" "" "00049708" "" "" "" "2" "" "01348" "B0079" "2-generation family, 1M, 1F" "" "" "France" "" "0" "" "" "" "" "00049709" "" "" "" "2" "" "01348" "B0530" "2-generation family, 0M, 2F" "" "" "France" "" "0" "" "" "" "" "00049710" "" "" "" "6" "" "01348" "Fam596" "2-generation family, 2M, 4F" "" "" "Germany" "" "0" "" "" "" "" "00049711" "" "" "" "3" "" "01348" "Fam731" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049712" "" "" "" "2" "" "01348" "Fam580" "2-generation family, 1M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049713" "" "" "" "4" "" "01348" "Fam967" "3-generation family, 1M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049714" "" "" "" "3" "" "01348" "Fam429" "3-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049715" "" "" "" "4" "" "01348" "B0371" "3-generation family, 1M, 3F" "" "" "France" "" "0" "" "" "" "" "00049716" "" "" "" "19" "" "01348" "Fam271" "3-generation family, 11M, 8F" "" "" "Germany" "" "0" "" "" "" "" "00049717" "" "" "" "2" "" "01348" "Fam498" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049718" "" "" "" "3" "" "01348" "B0059" "2-generation family, 0M, 3F" "" "" "France" "" "0" "" "" "" "" "00049719" "" "" "" "6" "" "01348" "P64.205" "3-generation family, 4M, 2F" "" "" "Netherlands" "" "0" "" "" "" "" "00049720" "" "" "" "2" "" "01348" "Fam792" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049721" "" "" "" "7" "" "01348" "P114.425" "3-generation family, 2M, 5F" "" "" "Netherlands" "" "0" "" "" "" "" "00049722" "" "" "" "5" "" "01348" "Fam654" "2-generation family, 1M, 4F" "" "" "Japan" "" "0" "" "" "" "" "00049723" "" "" "" "2" "" "01348" "B0051" "2-generation family, 0M, 2F" "" "" "France" "" "0" "" "" "" "" "00049724" "" "" "" "4" "" "01348" "P105.233" "2-generation family, 0M, 4F" "" "" "Netherlands" "" "0" "" "" "" "" "00049725" "" "" "" "2" "" "01348" "G10025" "2-generation family, 0M, 2F" "" "" "France" "" "0" "" "" "" "" "00049726" "" "" "" "2" "" "01348" "Fam661" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049727" "" "" "" "2" "" "01348" "Fam135" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049728" "" "" "" "2" "" "01348" "Fam809" "2-generation family, 1M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049729" "" "" "" "3" "" "01348" "Fam142" "2-generation family, 0M, 3F" "" "" "Japan" "" "0" "" "" "" "" "00049730" "" "" "" "4" "" "01348" "G10626" "2-generation family, 2M, 2F" "" "" "France" "" "0" "" "" "" "" "00049731" "" "" "" "4" "" "01348" "B0319" "3-generation family, 4M, 0F" "" "" "France" "" "0" "" "" "" "" "00049732" "" "" "" "4" "" "01348" "B1466" "2-generation family, 3M, 1F" "" "" "France" "" "0" "" "" "" "" "00049733" "" "" "" "4" "" "01348" "B1206" "2-generation family, 1M, 3F" "" "" "France" "" "0" "" "" "" "" "00049734" "" "" "" "3" "" "01348" "Fam108" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049735" "" "" "" "6" "" "01348" "Fam41" "2-generation family, 3M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049736" "" "" "" "4" "" "01348" "Fam110" "3-generation family, 2M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049737" "" "" "" "4" "" "01348" "P72.013" "3-generation family, 0M, 4F" "" "" "Netherlands" "" "0" "" "" "" "" "00049738" "" "" "" "2" "" "01348" "Fam210" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049739" "" "" "" "3" "" "01348" "Fam342" "2-generation family, 3M, 0F" "" "" "Germany" "" "0" "" "" "" "" "00049740" "" "" "" "4" "" "01348" "Fam861" "2-generation family, 1M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049741" "" "" "" "2" "" "01348" "B0206" "2-generation family, 2M, 0F" "" "" "France" "" "0" "" "" "" "" "00049742" "" "" "" "2" "" "01348" "Fam682" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049743" "" "" "" "4" "" "01348" "Fam506" "3-generation family, 0M, 4F" "" "" "Germany" "" "0" "" "" "" "" "00049744" "" "" "" "7" "" "01348" "P60.967" "3-generation family, 1M, 6F" "" "" "Netherlands" "" "0" "" "" "" "" "00049745" "" "" "" "3" "" "01348" "Fam308" "3-generation family, 1M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049746" "" "" "" "4" "" "01348" "B1226" "2-generation family, 3M, 1F" "" "" "France" "" "0" "" "" "" "" "00049747" "" "" "" "3" "" "01348" "P087197" "3-generation family, 1M, 2F" "" "" "Netherlands" "" "0" "" "" "" "" "00049748" "" "" "" "2" "" "01348" "Fam530" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049749" "" "" "" "3" "" "01348" "Fam18" "2-generation family, 3M, 0F" "" "" "Japan" "" "0" "" "" "" "" "00049750" "" "" "" "7" "" "01348" "P091.198" "3-generation family, 3M, 4F" "" "" "Netherlands" "" "0" "" "" "" "" "00049751" "" "" "" "3" "" "01348" "Fam743" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049752" "" "" "" "3" "" "01348" "Fam554" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049753" "" "" "" "6" "" "01348" "P051.683" "2-generation family, 2M, 4F" "" "" "Netherlands" "" "0" "" "" "" "" "00049754" "" "" "" "7" "" "01348" "B0638" "3-generation family, 5M, 2F" "" "" "France" "" "0" "" "" "" "" "00049755" "" "" "" "4" "" "01348" "Fam128" "3-generation family, 3M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049756" "" "" "" "2" "" "01348" "B1237" "2-generation family, 1M, 1F" "" "" "France" "" "0" "" "" "" "" "00049757" "" "" "" "2" "" "01348" "P72254" "2-generation family, 2M, 0F" "" "" "Netherlands" "" "0" "" "" "" "" "00049758" "" "" "" "6" "" "01348" "Fam724" "3-generation family, 3M, 3F" "" "" "Japan" "" "0" "" "" "" "" "00049759" "" "" "" "2" "" "01348" "Fam389" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049760" "" "" "" "2" "" "01348" "Fam51" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049761" "" "" "" "2" "" "01348" "Fam678(B)" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049762" "" "" "" "3" "" "01348" "B0187" "2-generation family, 2M, 1F" "" "" "France" "" "0" "" "" "" "" "00049763" "" "" "" "5" "" "01348" "Fam1053" "2-generation family, 3M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049764" "" "" "" "5" "" "01348" "P74806" "2-generation family, 5M, 0F" "" "" "Netherlands" "" "0" "" "" "" "" "00049765" "" "" "" "3" "" "01348" "Fam517" "2-generation family, 0M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049766" "" "" "" "4" "" "01348" "Fam26" "2-generation family, 2M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049767" "" "" "" "2" "" "01348" "Fam513" "2-generation family, 0M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049768" "" "" "" "2" "" "01348" "Fam566" "2-generation family, 0M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049769" "" "" "" "3" "" "01348" "Fam677" "2-generation family, 2M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049770" "" "" "" "2" "" "01348" "B0243" "2-generation family, 1M, 1F" "" "" "France" "" "0" "" "" "" "" "00049771" "" "" "" "5" "" "01348" "Fam63" "3-generation family, 1M, 4F" "" "" "Japan" "" "0" "" "" "" "" "00049772" "" "" "" "3" "" "01348" "Fam149" "3-generation family, 3M, 0F" "" "" "Germany" "" "0" "" "" "" "" "00049773" "" "" "" "16" "" "01348" "Fam18" "3-generation family, 9M, 7F" "" "" "Germany" "" "0" "" "" "" "" "00049774" "" "" "" "3" "" "01348" "B0737" "2-generation family, 1M, 2F" "" "" "France" "" "0" "" "" "" "" "00049775" "" "" "" "5" "" "01348" "Fam65" "2-generation family, 3M, 2F" "" "" "Germany" "" "0" "" "" "" "" "00049776" "" "" "" "3" "" "01348" "Fam17" "2-generation family, 0M, 3F" "" "" "Japan" "" "0" "" "" "" "" "00049777" "" "" "" "2" "" "01348" "Fam149" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049778" "" "" "" "2" "" "01348" "Fam111" "2-generation family, 0M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049779" "" "" "" "2" "" "01348" "Fam554" "2-generation family, 1M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049780" "" "" "" "3" "" "01348" "Fam21" "3-generation family, 0M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049781" "" "" "" "2" "" "01348" "Fam59" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049782" "" "" "" "2" "" "01348" "B0642" "2-generation family, 2M, 0F" "" "" "France" "" "0" "" "" "" "" "00049783" "" "" "" "4" "" "01348" "Fam145" "2-generation family, 3M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049784" "" "" "" "4" "" "01348" "Fam28" "3-generation family, 3M, 1F" "" "" "Germany" "" "0" "" "" "" "" "00049785" "" "" "" "3" "" "01348" "Fam13" "2-generation family, 1M, 2F" "" "" "Japan" "" "0" "" "" "" "" "00049786" "" "" "" "4" "" "01348" "Fam981" "3-generation family, 1M, 3F" "" "" "Germany" "" "0" "" "" "" "" "00049787" "" "" "" "4" "" "01348" "G7092" "3-generation family, 1M, 3F" "" "" "France" "" "0" "" "" "" "" "00049788" "" "" "" "5" "" "01348" "B0932" "3-generation family, 2M, 3F" "" "" "France" "" "0" "" "" "" "" "00049789" "" "" "" "3" "" "01348" "Fam134" "2-generation family, 2M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049790" "" "" "" "2" "" "01348" "Fam147" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049791" "" "" "" "2" "" "01348" "Fam448" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00049792" "" "" "" "4" "" "01348" "B0921" "2-generation family, 0M, 4F" "" "" "France" "" "0" "" "" "" "" "00049793" "" "" "" "2" "" "01348" "Fam230" "2-generation family, 1M, 1F" "" "" "Japan" "" "0" "" "" "" "" "00064154" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064160" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064196" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064703" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "03y" "0" "" "" "" "" "00064706" "" "" "" "1" "" "01601" "" "" "F" "" "Denmark" "15y" "0" "" "" "" "" "00072354" "" "" "" "1" "" "01606" "{PMID:Sung 2011:20636320}, {DOI:Sung 2011:10.1111/j.1540-8159.2010.02826.x}" "" "F" "" "Mongolia" ">36y" "" "" "" "" "20636320 pt1" "00128453" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "226" "00128477" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "266" "00128492" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "290" "00132805" "" "" "" "10" "" "00006" "{PMID:Crotti 2009:19187913}" "3-generation family, 10 affecteds (5F, 5M)" "F;M" "no" "Italy" "" "0" "" "" "" "19187913-Fam" "00143793" "" "" "" "1" "" "00006" "{PMID:Arnestad 2007:17210839}" "" "" "" "Norway" "" "0" "" "" "" "17210839-Pat" "00143794" "" "" "" "1" "" "00006" "{PMID:Arnestad 2007:17210839}" "" "" "" "Norway" "" "0" "" "" "" "17210839-Pat" "00143795" "" "" "" "1" "" "00006" "{PMID:Arnestad 2007:17210839}" "" "" "" "Norway" "" "0" "" "" "" "17210839-Pat" "00143796" "" "" "" "1" "" "00006" "{PMID:Arnestad 2007:17210839}" "" "" "" "Norway" "" "0" "" "" "" "17210839-Pat" "00143797" "" "" "" "1" "" "00006" "{PMID:Arnestad 2007:17210839}" "" "" "" "Norway" "" "0" "" "" "" "17210839-Pat" "00147570" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff 2004:14998624}" "{cardmoc:kvlqt1mut}" "M" "" "France" "" "0" "" "" "" "14998624-Pat12" "00147696" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff JM 2001:11222472}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11222472-?" "00147697" "" "" "" "2" "" "00006" "{PMID:Moss 2002:11854117}" "2 patients" "" "" "United States" "" "0" "" "" "" "11854117-?" "00147698" "" "" "" "1" "" "00006" "{PMID:Rossenbacker 2005:15699249}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "15699249-?" "00147699" "" "" "" "1" "" "00006" "{PMID:Chen 1999:10077519}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10077519-?" "00147700" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147701" "" "" "" "1" "" "00006" "{PMID:Kanters 2004:15851171}" "" "F" "" "Denmark" "" "0" "" "" "" "15851171-Pat" "00147702" "" "" "" "1" "" "00006" "{PMID:Struijk 2006:16937190}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16937190-?" "00147703" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147704" "" "" "" "1" "" "00006" "{PMID:Chen 1999:10077519}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10077519-?" "00147705" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147706" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147707" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147708" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff JM 2001:11222472}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11222472-?" "00147709" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147710" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147711" "" "" "" "1" "" "00006" "{PMID:Chen 1999:10077519}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10077519-?" "00147712" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147713" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147714" "" "" "" "1" "" "00006" "{PMID:Chen 1999:10077519}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10077519-?" "00147715" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147716" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff JM 2001:11222472}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11222472-?" "00147717" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147718" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147719" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147720" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147721" "" "" "" "1" "" "00006" "{PMID:Paulussen 2002:12354768}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "12354768-?" "00147722" "" "" "" "1" "" "00006" "{PMID:Chen 1999:10077519}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10077519-?" "00147723" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147724" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147725" "" "" "" "1" "" "00006" "{PMID:Chen 1999:10077519}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10077519-?" "00147726" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147727" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147728" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147729" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147730" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147731" "" "" "" "1" "" "00006" "{PMID:Chen 1999:10077519}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10077519-?" "00147732" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147733" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147734" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147735" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00147736" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147737" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147738" "" "" "" "1" "" "00006" "{PMID:Chen 1999:10077519}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10077519-?" "00147739" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147740" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00147741" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147742" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00147743" "" "" "" "1" "" "00006" "{PMID:Struijk 2006:16937190}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16937190-?" "00147744" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00147745" "" "" "" "1" "" "00006" "{PMID:Millat 2006(1):16922724}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16922724-?" "00147746" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147747" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00147748" "" "" "" "1" "" "00006" "{PMID:Christiansen 2005:15670565}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "15670565-?" "00147749" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147750" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147752" "" "" "" "17" "" "00006" "{PMID:Moss 2002:11854117}" "17 patients" "" "" "United States" "" "0" "" "" "" "11854117-?" "00147753" "" "" "" "1" "" "00006" "{PMID:Shushi 2005:16029385}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16029385-?" "00147754" "" "" "" "1" "" "00006" "{PMID:Hayashi 2004:15043509}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "15043509-?" "00147755" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147756" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147757" "" "" "" "1" "" "00006" "{PMID:Swan 1999:10483966}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10483966-?" "00147758" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147759" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147760" "" "" "" "1" "" "00006" "{PMID:Swan 1999:10483966}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10483966-?" "00147761" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147762" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147763" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147764" "" "" "" "1" "" "00006" "{PMID:Hoorntje 1999:10491368}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10491368-?" "00147765" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147766" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147767" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00147768" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147769" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147770" "" "" "" "2" "" "00006" "{PMID:Tester 2005:15840476}" "2 patients" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147771" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147772" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147773" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147774" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147775" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147776" "" "" "" "1" "" "00006" "{PMID:Arnestad 2007:17210839}" "" "" "" "Norway" "" "0" "" "" "" "17210839-Pat" "00147777" "" "" "" "1" "" "00006" "{PMID:Arnestad 2007:17210839}" "{cardmoc:hergmut}" "" "" "Norway" "" "0" "" "" "" "17210839-Pat" "00147778" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147779" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147780" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147781" "" "" "" "1" "" "00006" "{PMID:Millat 2006(1):16922724}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16922724-?" "00147782" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147783" "" "" "" "2" "" "00006" "{PMID:Tester 2005:15840476}" "2 patients" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147784" "" "" "" "1" "" "00006" "{PMID:Grunnet 2005:16253915}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16253915-?" "00147785" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff JM 2001:11222472}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11222472-?" "00147786" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff JM 2001:11222472}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11222472-?" "00147787" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147788" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00147789" "" "" "" "1" "" "00006" "{PMID:Paulussen 2004:14760488}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14760488-?" "00147790" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00147791" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147792" "" "" "" "6" "" "00006" "{PMID:Koopmann TT 2006:16399053}" "3-generation family, 6 affecteds (5F, 1M)" "F;M" "" "Netherlands" "" "0" "" "" "" "16399053-Fam" "00147793" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147794" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147795" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00147796" "" "" "" "1" "" "00006" "{PMID:Struijk 2006:16937190}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16937190-?" "00147797" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147798" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147799" "" "" "" "1" "" "00006" "{PMID:Liu 2002:12442276}" "2 generation family, affected father/daughter" "F;M" "" "China" "" "0" "" "" "" "12442276-Fam21" "00147800" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147801" "" "" "" "3" "" "00006" "{PMID:Curran 1995:7889573}" "4-generation family, 3 affecteds (2F, M)" "F;M" "" "United States" "" "0" "" "" "" "7889573-FamK2595" "00147802" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147803" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147804" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147805" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147806" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147807" "" "" "" "1" "" "00006" "{PMID:Priori 1999:9927399}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9927399-?" "00147808" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147809" "" "" "" "1" "" "00006" "{PMID:Priori 1999:9927399}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9927399-?" "00147810" "" "" "" "1" "" "00006" "{PMID:Liu 2002:12442276}" "2-generation family, affected father/daughter" "F;M" "" "China" "" "0" "" "" "" "12442276-Fam3" "00147811" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00147812" "" "" "" "1" "" "00006" "{PMID:Laitinen 2000:10862094}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10862094-?" "00147813" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147814" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147815" "" "" "" "3" "" "00006" "{PMID:Curran 1995:7889573}" "3-generation family, 3 affecteds (2F, M)" "F;M" "" "United States" "" "0" "" "" "" "7889573-FamK2596" "00147816" "" "" "" "1" "" "00006" "{PMID:Tanaka 1997:9024139}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9024139-?" "00147817" "" "" "" "1" "" "00006" "{PMID:Liu 2006:16831322}" "" "" "" "China" "" "0" "" "" "" "16831322-?" "00147818" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147819" "" "" "" "1" "" "00006" "{PMID:Yoshida 2001:11170080}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11170080-?" "00147820" "" "" "" "1" "" "00006" "{PMID:Itoh T 1998:9600240}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9600240-?" "00147821" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff 2004:14998624}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14998624-?" "00147822" "" "" "" "5" "" "00006" "{PMID:Curran 1995:7889573}" "3-generation family, 5 affecteds (3F, 2M)" "F;M" "" "United States" "" "0" "" "" "" "7889573-FamK2287" "00147823" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00147824" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff 2004:14998624}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14998624-?" "00147825" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147826" "" "" "" "1" "" "00006" "{PMID:Millat 2006(1):16922724}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16922724-?" "00147827" "" "" "" "1" "" "00006" "{PMID:Millat 2006(1):16922724}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16922724-?" "00147828" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147829" "" "" "" "1" "" "00006" "{PMID:Itoh T 1998:9600240}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9600240-?" "00147830" "" "" "" "1" "" "00006" "{PMID:Nakajima 1999:10690305}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10690305-?" "00147831" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147832" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147833" "" "" "" "1" "" "00006" "{PMID:Swan 1999:10483966}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10483966-?" "00147834" "" "" "" "1" "" "00006" "{PMID:Swan 1999:10483966}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10483966-?" "00147835" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147836" "" "" "" "1" "" "00006" "{PMID:Piippo 2000:10841244}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10841244-?" "00147838" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147839" "" "" "" "1" "" "00006" "{PMID:Jongbloed 1999:10220144}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "10220144-?" "00147840" "" "" "" "2" "" "00006" "{PMID:Liu 2002:12442276}" "2-generation family, affected mother/daughter" "F" "" "China" "" "0" "" "" "" "12442276-Fam20" "00147841" "" "" "" "1" "" "00006" "{PMID:Bellocq 2004:15280442}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "15280442-?" "00147842" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147843" "" "" "" "1" "" "00006" "{PMID:Chugh 2004:15120823}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "15120823-?" "00147844" "" "" "" "1" "" "00006" "{PMID:Tanaka 1997:9024139}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9024139-?" "00147845" "" "" "" "1" "" "00006" "{PMID:Priori 1999:9927399}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9927399-?" "00147846" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147847" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147848" "" "" "" "1" "" "00006" "{PMID:St-Pierre J2000:10744792}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10744792-?" "00147849" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147850" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147851" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147852" "" "" "" "1" "" "00006" "AHA 2004 meeting abstract" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "?" "00147853" "" "" "" "1" "" "00006" "{PMID:Swan 1999:10483966}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10483966-?" "00147854" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147855" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147856" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147857" "" "" "" "2" "" "00006" "{PMID:Tester 2005:15840476}" "2 patients" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147858" "" "" "" "1" "" "00006" "{PMID:Larsen 2000:10735633}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10735633-?" "00147859" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147860" "" "" "" "1" "" "00006" "{PMID:AHA 2004 meeting abstract:}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "-?" "00147861" "" "" "" "1" "" "00006" "{PMID:Jongbloed 1999:10220144}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "10220144-?" "00147862" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "2 patients" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147863" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147864" "" "" "" "1" "" "00006" "{PMID:Swan 1999:10483966}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10483966-?" "00147865" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147866" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147867" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147868" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147869" "" "" "" "1" "" "00006" "{PMID:Benson 1996:8635257}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "8635257-?" "00147870" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147871" "" "" "" "1" "" "00006" "{PMID:Moss 2002:11854117}" "{cardmoc:hergmut}" "" "" "United States" "" "0" "" "" "" "11854117-?" "00147872" "" "" "" "1" "" "00006" "{PMID:Moss 2002:11854117}" "{cardmoc:hergmut}" "" "" "United States" "" "0" "" "" "" "11854117-?" "00147873" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147874" "" "" "" "1" "" "00006" "{PMID:Swan 1999:10483966}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10483966-?" "00147875" "" "" "" "1" "" "00006" "{PMID:Jongbloed 1999:10220144}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "10220144-?" "00147876" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147877" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff 2004:14998624}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14998624-?" "00147878" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147879" "" "" "" "1" "" "00006" "{PMID:Zang 2006:17171344}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "17171344-?" "00147880" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147881" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff JM 2001:11222472}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11222472-?" "00147882" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147883" "" "" "" "1" "" "00006" "{PMID:Yamaguchi M 2004:15500450}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "15500450-?" "00147884" "" "" "" "1" "" "00006" "{PMID:Tanaka 1997:9024139}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9024139-?" "00147885" "" "" "" "1" "" "00006" "{PMID:Schulze-Bahr 1995:7491156}" "" "" "" "Germany" "" "0" "" "" "" "7491156-?" "00147886" "" "" "" "1" "" "00006" "{PMID:Satler 1998:9544837}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9544837-?" "00147887" "" "" "" "1" "" "00006" "{PMID:Jongbloed 1999:10220144}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "10220144-?" "00147888" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147889" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147890" "" "" "" "2" "" "00006" "{PMID:Lupoglazoff 2004:14998624}" "2 patients" "" "" "" "" "0" "" "" "" "14998624-?" "00147891" "" "" "" "1" "" "00006" "{PMID:Choi 2004:15466642}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "15466642-?" "00147892" "" "" "" "1" "" "00006" "{PMID:Tanaka 1997:9024139}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9024139-?" "00147893" "" "" "" "1" "" "00006" "{PMID:Satler 1998:9544837}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9544837-?" "00147894" "" "" "" "1" "" "00006" "{PMID:Priori 1999:9927399}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9927399-?" "00147895" "" "" "" "1" "" "00006" "{PMID:Lee-Chen 1999:10560244}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10560244-?" "00147896" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147897" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147898" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff JM 2001:11222472}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11222472-?" "00147899" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00147900" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff 2004:14998624}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14998624-?" "00147901" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147902" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147903" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147904" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147905" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147906" "" "" "" "1" "" "00006" "{PMID:Jahr 2000:10862104}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10862104-?" "00147907" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147908" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147909" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147910" "" "" "" "1" "" "00006" "{PMID:Curran 1995:7889573}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "7889573-FamK2269" "00147911" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147912" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff 2004:14998624}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14998624-?" "00147913" "" "" "" "1" "" "00006" "{PMID:Satler 1998:9544837}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9544837-?" "00147914" "" "" "" "1" "" "00006" "{PMID:Lees-Miller 2000:10720411}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10720411-?" "00147915" "" "" "" "1" "" "00006" "{PMID:Satler 1998:9544837}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9544837-?" "00147916" "" "" "" "1" "" "00006" "{PMID:Yoshida 1999:10517660}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10517660-?" "00147917" "" "" "" "1" "" "00006" "{PMID:Tanaka 1997:9024139}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9024139-?" "00147918" "" "" "" "1" "" "00006" "{PMID:Splawski 1998:9693036}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9693036-?" "00147919" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147920" "" "" "" "1" "" "00006" "{PMID:Lai 2005:16155735}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16155735-?" "00147921" "" "" "" "1" "" "00006" "{PMID:Satler 1998:9544837}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9544837-?" "00147922" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147923" "" "" "" "1" "" "00006" "{PMID:Hayashi 2002:12062363}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "12062363-?" "00147924" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147925" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147926" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147927" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147928" "" "" "" "1" "" "00006" "{PMID:Jongbloed 1999:10220144}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "10220144-?" "00147929" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147930" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147931" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147932" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147933" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147934" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff 2004:14998624}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14998624-?" "00147935" "" "" "" "23" "" "00006" "{PMID:Zhang 2004:15364333}" "5-generation family, 23 affecteds (12F, 11M)" "F;M" "" "United States" "" "0" "" "" "European" "15364333-?" "00147936" "" "" "" "1" "" "00006" "{PMID:Itoh T 1998:9600240}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9600240-?" "00147937" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147938" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147939" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147940" "" "" "" "2" "" "00006" "{PMID:Paulussen 2000:10790218}" "2-generation family, affected mother/child" "" "" "Belgium" "" "0" "" "" "" "10790218-Fam" "00147941" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147942" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147943" "" "" "" "1" "" "00006" "{PMID:Millat 2006(1):16922724}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16922724-?" "00147944" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147945" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00147946" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147947" "" "" "" "1" "" "00006" "{PMID:Millat 2006(1):16922724}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16922724-?" "00147948" "" "" "" "1" "" "00006" "{PMID:Kobori 2004:15028050}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "15028050-?" "00147949" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147950" "" "" "" "6" "" "00006" "{PMID:Shang 2005:15973763}" "3-generation family, 6 affecteds (4F, 2M)" "F;M" "" "China" "" "0" "" "" "" "15973763-Fam" "00147951" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147952" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147953" "" "" "" "1" "" "00006" "{PMID:Itoh T 1998:9600240}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9600240-?" "00147954" "" "" "" "1" "" "00006" "{PMID:Shim 2005:16379539}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16379539-?" "00147955" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147956" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147957" "" "" "" "2" "" "00006" "{PMID:Moss 2002:11854117}" "2 patients" "" "" "United States" "" "0" "" "" "" "11854117-?" "00147958" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147959" "" "" "" "1" "" "00006" "{PMID:Ficker 2000:11009462}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11009462-?" "00147960" "" "" "" "1" "" "00006" "{PMID:Johnson 2003:12621127}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "12621127-?" "00147961" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147962" "" "" "" "1" "" "00006" "Yang 2002:http://circ.ahajournals.org/cgi/content/abstract/105/16/1943" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "?" "00147963" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147964" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147965" "" "" "" "1" "" "00006" "{PMID:Itoh T 1998:9600240}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9600240-?" "00147966" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147967" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147968" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147969" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147970" "" "" "" "1" "" "00006" "{PMID:Curran 1995:7889573}" "" "F" "" "United States" "" "0" "" "" "" "7889573-K2015" "00147971" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147972" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147973" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147974" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147975" "" "" "" "1" "" "00006" "{PMID:Berthet 1999:10086971}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10086971-?" "00147976" "" "" "" "1" "" "00006" "{PMID:Nakajima 2000:10996323}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10996323-?" "00147977" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147978" "" "" "" "1" "" "00006" "{PMID:Satler 1996:9544837}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9544837-?" "00147979" "" "" "" "1" "" "00006" "{PMID:Berthet 1999:10086971}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10086971-?" "00147980" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00147981" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147982" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147984" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147985" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147986" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147987" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147988" "" "" "" "1" "" "00006" "{PMID:Berthet 1999:10086971}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10086971-?" "00147989" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff JM 2001:11222472}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11222472-?" "00147990" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147991" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147992" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00147993" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00147994" "" "" "" "1" "" "00006" "{PMID:Van Langen 2003:12566525}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12566525-?" "00147995" "" "" "" "1" "" "00006" "{PMID:Millat 2006(1):16922724}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16922724-?" "00147996" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00147997" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00147999" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00148000" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148001" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00148002" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00148003" "" "" "" "2" "" "00006" "{PMID:Tester 2005:15840476}" "2 patients" "" "" "United States" "" "0" "" "" "" "15840476-?" "00148004" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148005" "" "" "" "1" "" "00006" "{PMID:Millat 2006(1):16922724}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16922724-?" "00148006" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00148007" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00148008" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00148009" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "" "" "" "United States" "" "0" "" "" "" "15840476-?" "00148010" "" "" "" "1" "" "00006" "{PMID:Lai 2005:16155735}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16155735-?" "00148011" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00148012" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148013" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148014" "" "" "" "1" "" "00006" "{PMID:Millat 2006:16922724}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16922724-?" "00148016" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff JM 2001:11222472}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11222472-?" "00148017" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148018" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148019" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00148020" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00148021" "" "" "" "1" "" "00006" "{PMID:Moss 2002:11854117}" "{cardmoc:hergmut}" "" "" "United States" "" "0" "" "" "" "11854117-?" "00148022" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00148023" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148024" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148025" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148026" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00148027" "" "" "" "1" "" "00006" "{PMID:Millat 2006(1):16922724}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16922724-?" "00148028" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148029" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148030" "" "" "" "1" "" "00006" "{PMID:Berthet 1999:10086971}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10086971-?" "00148031" "" "" "" "1" "" "00006" "{PMID:Lupoglazoff JM 2001:11222472}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11222472-?" "00148032" "" "" "" "1" "" "00006" "{PMID:Millat 2006:16922724}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16922724-?" "00148034" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148035" "" "" "" "1" "" "00006" "{PMID:Splawski 2000:10973849}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10973849-?" "00148036" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148037" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148038" "" "" "" "1" "" "00006" "{PMID:Napolitano 2005:16414944}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16414944-?" "00148039" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00148040" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148041" "" "" "" "1" "" "00006" "{PMID:Tester 2006:16818214}" "" "" "" "United States" "" "0" "" "" "" "16818214-?" "00148042" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148043" "" "" "" "1" "" "00006" "{PMID:Mank-Seymour 2006:17161064}" "{cardmoc:hergmut}" "" "" "United States" "" "0" "" "" "" "17161064-?" "00148044" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148045" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148046" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148047" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148048" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148049" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148050" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148051" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148052" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148053" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148054" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148055" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00148056" "" "" "" "1" "" "00006" "{PMID:Akimoto 1997:9452080}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9452080-?" "00148057" "" "" "" "1" "" "00006" "{PMID:Iwasa 2000:10807545}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10807545-?" "00148058" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00148059" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00148060" "" "" "" "1" "" "00006" "{PMID:Aydin 2004:15599693}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "15599693-?" "00148061" "" "" "" "1" "" "00006" "{PMID:Akimoto 1997:9452080}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9452080-?" "00148062" "" "" "" "1" "" "00006" "{PMID:Iwasa 2000:10807545}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10807545-?" "00148063" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00148064" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00148065" "" "" "" "1" "" "00006" "{PMID:Aydin 2004:15599693}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "15599693-?" "00148066" "" "" "" "1" "" "00006" "{PMID:Akimoto 1997:9452080}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "9452080-?" "00148067" "" "" "" "1" "" "00006" "{PMID:Iwasa 2000:10807545}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10807545-?" "00148068" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00148069" "" "" "" "1" "" "00006" "{PMID:Larsen 1999:10482963}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10482963-?" "00148070" "" "" "" "1" "" "00006" "{PMID:Iwasa 2000:10807545}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10807545-?" "00148071" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00148072" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00148073" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00148074" "" "" "" "1" "" "00006" "{PMID:Tester 2006:16818214}" "" "" "" "United States" "" "0" "" "" "" "16818214-?" "00148075" "" "" "" "1" "" "00006" "{PMID:Aydin 2004:15599693}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "15599693-?" "00148076" "" "" "" "1" "" "00006" "{PMID:Aydin 2004:15599693}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "15599693-?" "00148077" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148078" "" "" "" "1" "" "00006" "{PMID:Iwasa 2000:10807545}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10807545-?" "00148079" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148080" "" "" "" "1" "" "00006" "{PMID:Koo 2006:16487223}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16487223-?" "00148081" "" "" "" "1" "" "00006" "{PMID:Mank-Seymour 2006:17161064}" "{cardmoc:hergmut}" "" "" "United States" "" "0" "" "" "" "17161064-?" "00148082" "" "" "" "1" "" "00006" "{PMID:Iwasa 2000:10807545}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "10807545-?" "00148083" "" "" "" "1" "" "00006" "Yang 2002:http://circ.ahajournals.org/cgi/content/abstract/105/16/1943" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "?" "00148084" "" "" "" "1" "" "00006" "{PMID:Aydin 2004:15599693}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "15599693-?" "00148085" "" "" "" "1" "" "00006" "{PMID:Mank-Seymour 2006:17161064}" "{cardmoc:hergmut}" "" "" "United States" "" "0" "" "" "" "17161064-?" "00148086" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00148087" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148088" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148089" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148090" "" "" "" "1" "" "00006" "{PMID:Mank-Seymour 2006:17161064}" "{cardmoc:hergmut}" "" "" "United States" "" "0" "" "" "" "17161064-?" "00148091" "" "" "" "1" "" "00006" "{PMID:Koo 2006:16487223}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16487223-?" "00148092" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148093" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148094" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148095" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00148096" "" "" "" "1" "" "00006" "{PMID:Mank-Seymour 2006:17161064}" "{cardmoc:hergmut}" "" "" "United States" "" "0" "" "" "" "17161064-?" "00148097" "" "" "" "1" "" "00006" "{PMID:Larsen 2001:11468227}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "11468227-?" "00148098" "" "" "" "1" "" "00006" "{PMID:Jongbloed 2002:12402336}" "{cardmoc:hergmut}" "" "" "Netherlands" "" "0" "" "" "" "12402336-?" "00148099" "" "" "" "1" "" "00006" "{PMID:Koo 2006:16487223}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16487223-?" "00148100" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148101" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "14661677-?" "00148102" "" "" "" "1" "" "00006" "{PMID:Koo 2006:16487223}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16487223-?" "00148103" "" "" "" "1" "" "00006" "{PMID:Koo 2006:16487223}" "{cardmoc:hergmut}" "" "" "" "" "0" "" "" "" "16487223-?" "00148285" "" "" "" "1" "" "00006" "{PMID:Choi 2004:15466642}" "" "F" "" "United States" "" "0" "" "" "" "15466642-Pat29" "00148289" "" "" "" "1" "" "00006" "{PMID:Paulussen 2000:10790218}" "" "" "" "Belgium" "" "0" "" "" "" "10790218-con" "00148345" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840531-Pat" "00148346" "" "" "" "2" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840532-Pat" "00148347" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840533-Pat" "00148348" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840534-Pat" "00148349" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840535-Pat" "00148350" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840536-Pat" "00148351" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840537-Pat" "00148352" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840538-Pat" "00148353" "" "" "" "2" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840539-Pat" "00148354" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840540-Pat" "00148355" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840541-Pat" "00148356" "" "" "" "4" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840542-Pat" "00148357" "" "" "" "6" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840543-Pat" "00148358" "" "" "" "2" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840544-Pat" "00148359" "" "" "" "2" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840545-Pat" "00148360" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840546-Pat" "00148361" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840547-Pat" "00148362" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840548-Pat" "00148363" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840549-Pat" "00148364" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840550-Pat" "00148365" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840551-Pat" "00148366" "" "" "" "3" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840552-Pat" "00148367" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840553-Pat" "00148368" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840554-Pat" "00148369" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840555-Pat" "00148370" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840556-Pat" "00148371" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840557-Pat" "00148372" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840558-Pat" "00148373" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840559-Pat" "00148374" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840560-Pat" "00148375" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840561-Pat" "00148376" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840562-Pat" "00148377" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840563-Pat" "00148378" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840564-Pat" "00148379" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840565-Pat" "00148380" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840566-Pat" "00148381" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840567-Pat" "00148382" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840568-Pat" "00148383" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840569-Pat" "00148384" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840570-Pat" "00148385" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840571-Pat" "00148386" "" "" "" "2" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840572-Pat" "00148387" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840573-Pat" "00148388" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840574-Pat" "00148389" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840575-Pat" "00148390" "" "" "" "1" "" "00006" "{PMID:Tester 2005:15840476}" "541 LQT cases" "" "" "United States" "" "0" "" "" "" "15840576-Pat" "00148405" "" "" "" "4" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661688-con" "00148406" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661689-con" "00148407" "" "" "" "3" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661690-con" "00148408" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661691-con" "00148409" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661692-con" "00148410" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661693-con" "00148411" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661694-con" "00148412" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661695-con" "00148413" "" "" "" "25" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661696-con" "00148414" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661697-con" "00148415" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661698-con" "00148416" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661699-con" "00148417" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661700-con" "00148418" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661701-con" "00148419" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661702-con" "00148430" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "187 Caucasian controls" "" "" "United States" "" "0" "" "" "European, white" "14661713-con" "00148431" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "187 Caucasian controls" "" "" "United States" "" "0" "" "" "European, white" "14661714-con" "00148432" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "187 Caucasian controls" "" "" "United States" "" "0" "" "" "European, white" "14661715-con" "00148433" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "187 Caucasian controls" "" "" "United States" "" "0" "" "" "European, white" "14661716-con" "00148434" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "187 Caucasian controls" "" "" "United States" "" "0" "" "" "European, white" "14661717-con" "00148435" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "187 Caucasian controls" "" "" "United States" "" "0" "" "" "European, white" "14661718-con" "00148436" "" "" "" "62" "" "00006" "{PMID:Ackerman 2003:14661677}" "187 Caucasian controls" "" "" "United States" "" "0" "" "" "European, white" "14661719-con" "00148437" "" "" "" "3" "" "00006" "{PMID:Ackerman 2003:14661677}" "187 Caucasian controls" "" "" "United States" "" "0" "" "" "European, white" "14661720-con" "00148438" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "187 Caucasian controls" "" "" "United States" "" "0" "" "" "European, white" "14661721-con" "00148439" "" "" "" "7" "" "00006" "{PMID:Ackerman 2003:14661677}" "187 Caucasian controls" "" "" "United States" "" "0" "" "" "European, white" "14661722-con" "00148446" "" "" "" "10" "" "00006" "{PMID:Ackerman 2003:14661677}" "134 Asian controls" "" "" "United States" "" "0" "" "" "Asian" "14661729-con" "00148447" "" "" "" "6" "" "00006" "{PMID:Ackerman 2003:14661677}" "134 Asian controls" "" "" "United States" "" "0" "" "" "Asian" "14661730-con" "00148453" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "118 Hispanic controls" "" "" "United States" "" "0" "" "" "Hispanic" "14661736-con" "00148454" "" "" "" "8" "" "00006" "{PMID:Ackerman 2003:14661677}" "118 Hispanic controls" "" "" "United States" "" "0" "" "" "Hispanic" "14661737-con" "00180903" "" "" "" "1" "" "01601" "" "" "F" "?" "Denmark" "25y" "0" "" "" "" "9" "00207981" "" "" "" "1" "" "02950" "{PMID:Monasky 2019:31292628}" "" "F" "" "" ">72y" "0" "" "" "" "PatVI" "00263149" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00263151" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00269929" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00269930" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00269931" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00269932" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00269933" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00270539" "" "" "" "1" "" "01164" "" "" "F" "?" "Yugoslavia" "" "0" "" "" "" "108123" "00270540" "" "" "" "1" "" "01164" "" "" "M" "?" "" "" "0" "" "" "" "121176" "00270541" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "105297" "00271338" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00271339" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271364" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271365" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00271366" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271367" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00271368" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271369" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271370" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00271371" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271372" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271373" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271374" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271375" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00271376" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271377" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00271398" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00271399" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271414" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271418" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00287097" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00294352" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294353" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294354" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" 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"analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294361" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294362" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294363" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294364" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294365" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294366" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294367" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294368" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294369" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295217" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295218" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295219" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295319" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295320" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295321" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295370" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295475" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296697" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "analysis 55 patients" "F" "" "United States" "" "0" "" "" "African American" "NCG_00345" "00296699" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "analysis 55 patients" "F" "" "United States" "" "0" "" "" "white" "NCG_00680" "00305136" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305340" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00320286" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "F" "" "Australia" "" "0" "" "" "Asia-NE" "BEF1" "00324410" "" "" "" "1" "" "00006" "{PMID:Vissers 2010:21076407}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "(Netherlands)" "" "0" "" "" "" "MRtrio2" "00372038" "" "" "" "1" "" "00006" "{PMID:Singer 2021:32973354}" "" "" "" "Australia" "" "0" "" "" "" "NSW76A" "00417674" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00419616" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9038" "00428005" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A113" "00428024" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A195" "00448154" "" "" "" "1" "" "00006" "{PMID:Shepherdson 2024:38325380}, {DOI:Shepherdson 2024:10.1016/j.ajhg.2024.01.007}" "2-generation family, 1 affected, unaffected heterozygous parents" "rF" "" "United States" "" "0" "" "" "Europe;Indian-Ojibwa;French-Canadian" "Pat9" "00453188" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam147Pat165" "00453189" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam220Pat239" "00453190" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam438Pat469" "00453732" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV125" "00453758" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV215" "00453765" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV846" "00453766" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV375" "00453767" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV963" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 832 "{{individualid}}" "{{diseaseid}}" "00004242" "00405" "00004243" "00405" "00004244" "00405" "00004245" "00405" "00004246" "00405" "00004247" "00405" "00004248" "00405" "00004249" "00405" "00004250" "00405" "00049515" "00405" "00049516" "00405" "00049517" "00405" "00049518" "00405" "00049519" "00405" "00049520" "00405" "00049521" "00405" "00049522" "00405" "00049523" "00405" "00049524" "00405" "00049525" "00405" "00049526" "00405" "00049527" "00405" "00049528" "00405" "00049529" "00405" "00049530" "00405" "00049531" "00405" "00049532" "00405" "00049533" "00405" "00049534" "00405" "00049535" "00405" "00049536" "00405" "00049537" "00405" "00049538" "00405" "00049539" "00405" "00049540" "00405" "00049541" "00405" "00049542" "00405" "00049543" "00405" "00049544" "00405" "00049545" "00405" "00049546" "00405" "00049547" "00405" "00049548" "00405" "00049549" "00405" 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"00152" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00118, 00139, 00152, 00198, 00351, 00404, 00405, 00614, 02087, 02354, 02862, 04172, 04270, 05104, 05166, 05611 ## Count = 735 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000015280" "00405" "00004242" "00066" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015281" "00405" "00004243" "00066" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015282" "00405" "00004244" "00066" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015283" "00405" "00004245" "00066" "Familial, autosomal dominant" "" "incomplete penetrance" "" "" "" "" "" "" "" "" "" "" "" "" "0000015284" "00405" "00004246" "00066" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015285" "00405" "00004247" "00066" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015286" "00405" "00004248" "00066" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015287" "00405" "00004249" "00066" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015288" "00405" "00004250" "00066" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036282" "00405" "00049515" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036283" "00405" "00049516" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036284" "00405" "00049517" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036285" "00405" "00049518" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036286" "00405" "00049519" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036287" "00405" "00049520" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036288" "00405" "00049521" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036289" "00405" "00049522" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036290" "00405" "00049523" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036291" "00405" "00049524" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036292" "00405" "00049525" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036293" "00405" "00049526" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036294" "00405" "00049527" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036295" "00405" "00049528" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036296" "00405" "00049529" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036297" "00405" "00049530" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036298" "00405" "00049531" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036299" "00405" "00049532" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036300" "00405" "00049533" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036301" "00405" "00049534" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036302" "00405" "00049535" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036303" "00405" "00049536" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036304" "00405" "00049537" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036305" "00405" "00049538" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036306" "00405" "00049539" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036307" "00405" "00049540" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036308" "00405" "00049541" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036309" "00405" "00049542" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036310" "00405" "00049543" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036311" "00405" "00049544" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036312" "00405" "00049545" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036313" "00405" "00049546" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036314" "00405" "00049547" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036315" "00405" "00049548" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036316" "00405" "00049549" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036317" "00405" "00049550" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036318" "00405" "00049551" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036319" "00405" "00049552" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036320" "00405" "00049553" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036321" "00405" "00049554" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036322" "00405" "00049555" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036323" "00405" "00049556" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036324" "00405" "00049557" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036325" "00405" "00049558" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036326" "00405" "00049559" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036327" "00405" "00049560" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036328" "00405" "00049561" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036329" "00405" "00049562" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036330" "00405" "00049563" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036331" "00405" "00049564" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036332" "00405" "00049565" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036333" "00405" "00049566" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" 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"" "" "" "0000036344" "00405" "00049577" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036345" "00405" "00049578" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036346" "00405" "00049579" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036347" "00405" "00049580" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036348" "00405" "00049581" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036349" "00405" "00049582" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036350" "00405" "00049583" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036351" "00405" "00049584" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036352" "00405" "00049585" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036353" "00405" "00049586" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" 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"0000036384" "00405" "00049617" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036385" "00405" "00049618" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036386" "00405" "00049619" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036387" "00405" "00049620" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036388" "00405" "00049621" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036389" "00405" "00049622" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036390" "00405" "00049623" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036391" "00405" "00049624" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036392" "00405" "00049625" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036393" "00405" "00049626" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036394" "00405" "00049627" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036395" "00405" "00049628" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036396" "00405" "00049629" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036397" "00405" "00049630" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036398" "00405" "00049631" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036399" "00405" "00049632" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036400" "00405" "00049633" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036401" "00405" "00049634" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036402" "00405" "00049635" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036403" "00405" "00049636" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036404" "00405" "00049637" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036405" "00405" "00049638" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036406" "00405" "00049639" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036407" "00405" "00049640" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036408" "00405" "00049641" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036409" "00405" "00049642" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036410" "00405" "00049643" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036411" "00405" "00049644" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036412" "00405" "00049645" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036413" "00405" "00049646" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036414" "00405" "00049647" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036415" "00405" "00049648" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036416" "00405" "00049649" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036417" "00405" "00049650" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036418" "00405" "00049651" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036419" "00405" "00049652" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036420" "00405" "00049653" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036421" "00405" "00049654" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036422" "00405" "00049655" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036423" "00405" "00049656" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036424" "00405" "00049657" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036425" "00405" "00049658" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036426" "00405" "00049659" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036427" "00405" "00049660" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036428" "00405" "00049661" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036429" "00405" "00049662" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036430" "00405" "00049663" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036431" "00405" "00049664" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036432" "00405" "00049665" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036433" "00405" "00049666" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036434" "00405" "00049667" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036435" "00405" "00049668" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036436" "00405" "00049669" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036437" "00405" "00049670" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036438" "00405" "00049671" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036439" "00405" "00049672" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036440" "00405" "00049673" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036441" "00405" "00049674" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036442" "00405" "00049675" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036443" "00405" "00049676" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036444" "00405" "00049677" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036445" "00405" "00049678" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036446" "00405" "00049679" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036447" "00405" "00049680" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036448" "00405" "00049681" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036449" "00405" "00049682" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036450" "00405" "00049683" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036451" "00405" "00049684" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036452" "00405" "00049685" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036453" "00405" "00049686" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036454" "00405" "00049687" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036455" "00405" "00049688" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036456" "00405" "00049689" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036457" "00405" "00049690" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036458" "00405" "00049691" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036459" "00405" "00049692" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036460" "00405" "00049693" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036461" "00405" "00049694" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036462" "00405" "00049695" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036463" "00405" "00049696" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036464" "00405" "00049697" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036465" "00405" "00049698" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036466" "00405" "00049699" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036467" "00405" "00049700" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036468" "00405" "00049701" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036469" "00405" "00049702" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036470" "00405" "00049703" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036471" "00405" "00049704" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036472" "00405" "00049705" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036473" "00405" "00049706" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036474" "00405" "00049707" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036475" "00405" "00049708" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036476" "00405" "00049709" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036477" "00405" "00049710" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036478" "00405" "00049711" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036479" "00405" "00049712" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036480" "00405" "00049713" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036481" "00405" "00049714" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036482" "00405" "00049715" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036483" "00405" "00049716" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036484" "00405" "00049717" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036485" "00405" "00049718" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036486" "00405" "00049719" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036487" "00405" "00049720" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036488" "00405" "00049721" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036489" "00405" "00049722" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036490" "00405" "00049723" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036491" "00405" "00049724" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036492" "00405" "00049725" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036493" "00405" "00049726" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036494" "00405" "00049727" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036495" "00405" "00049728" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036496" "00405" "00049729" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036497" "00405" "00049730" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036498" "00405" "00049731" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036499" "00405" "00049732" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036500" "00405" "00049733" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036501" "00405" "00049734" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036502" "00405" "00049735" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036503" "00405" "00049736" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036504" "00405" "00049737" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036505" "00405" "00049738" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036506" "00405" "00049739" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036507" "00405" "00049740" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036508" "00405" "00049741" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036509" "00405" "00049742" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036510" "00405" "00049743" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036511" "00405" "00049744" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036512" "00405" "00049745" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036513" "00405" "00049746" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036514" "00405" "00049747" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036515" "00405" "00049748" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036516" "00405" "00049749" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036517" "00405" "00049750" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036518" "00405" "00049751" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036519" "00405" "00049752" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036520" "00405" "00049753" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036521" "00405" "00049754" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036522" "00405" "00049755" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036523" "00405" "00049756" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036524" "00405" "00049757" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036525" "00405" "00049758" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036526" "00405" "00049759" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036527" "00405" "00049760" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036528" "00405" "00049761" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036529" "00405" "00049762" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036530" "00405" "00049763" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036531" "00405" "00049764" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036532" "00405" "00049765" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036533" "00405" "00049766" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036534" "00405" "00049767" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036535" "00405" "00049768" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036536" "00405" "00049769" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036537" "00405" "00049770" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036538" "00405" "00049771" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036539" "00405" "00049772" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036540" "00405" "00049773" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036541" "00405" "00049774" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036542" "00405" "00049775" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036543" "00405" "00049776" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036544" "00405" "00049777" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036545" "00405" "00049778" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036546" "00405" "00049779" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036547" "00405" "00049780" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036548" "00405" "00049781" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036549" "00405" "00049782" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036550" "00405" "00049783" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036551" "00405" "00049784" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036552" "00405" "00049785" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036553" "00405" "00049786" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036554" "00405" "00049787" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036555" "00405" "00049788" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036556" "00405" "00049789" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036557" "00405" "00049790" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036558" "00405" "00049791" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036559" "00405" "00049792" "01348" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036560" "00405" "00049793" "01348" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050670" "00351" "00064154" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050676" "00351" "00064160" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050712" "00351" "00064196" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052023" "00198" "00072354" "01606" "Familial, autosomal dominant" "36y" "Premature rupture of membranes (HP:0001788), Caesarian section (HP:0011410), Congestive heart failure (HP:0001635), Prolonged QTc interval (HP:0005184), Exertional dyspnea (HP:0002875)," "" "" "" "" "" "" "" "" "" "myopathy, myofibrillar, type 1 (MFM-1)" "myopathy" "" "0000053231" "05166" "00064703" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053234" "05166" "00064706" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000100673" "00198" "00128453" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100699" "00198" "00128477" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100716" "00198" "00128492" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000105568" "00404" "00132805" "00006" "Familial, autosomal dominant" "" "see paper, ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000116562" "02087" "00143793" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000116563" "02087" "00143794" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000116564" "02087" "00143795" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000116565" "02087" "00143796" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000116566" "02087" "00143797" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120255" "00198" "00147570" "00006" "Unknown" "" "fetal arrhythmia, collapse torsades de pointes, ventricular tachycardia" "" "" "" "" "" "" "" "" "" "" "" "" "0000120308" "00404" "00147696" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120309" "00404" "00147697" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120310" "00404" "00147698" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120311" "00404" "00147699" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120312" "00404" "00147700" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120314" "00404" "00147702" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120315" "00404" "00147703" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120316" "00404" "00147704" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120317" "00404" "00147705" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120318" "00404" "00147706" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120319" "00404" "00147707" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120320" "00404" "00147708" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120321" "00404" "00147709" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120322" "00404" "00147710" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120323" "00404" "00147711" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120324" "00404" "00147712" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120325" "00404" "00147713" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120326" "00404" "00147714" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120327" "00404" "00147715" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120328" "00404" "00147716" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120329" "00404" "00147717" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120330" "00404" "00147718" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120331" "00404" "00147719" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120332" "00404" "00147720" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120333" "00404" "00147721" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120334" "00404" "00147722" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120335" "00404" "00147723" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120336" "00404" "00147724" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120337" "00404" "00147725" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120338" "00404" "00147726" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120339" "00404" "00147727" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120340" "00404" "00147728" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120341" "00404" "00147729" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120342" "00404" "00147730" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120343" "00404" "00147731" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120344" "00404" "00147732" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120345" "00404" "00147733" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120346" "00404" "00147734" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120347" "00404" "00147735" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120348" "00404" "00147736" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120349" "00404" "00147737" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120350" "00404" "00147738" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120351" "00404" "00147739" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120352" "00404" "00147740" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120353" "00404" "00147741" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120354" "00404" "00147742" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120355" "00404" "00147743" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120356" "00404" "00147744" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120357" "00404" "00147745" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120358" "00404" "00147746" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120359" "00198" "00147747" "00006" "Unknown" "" "Romano Ward syndrome, Sudden Infant Death Syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120360" "00198" "00147748" "00006" "Unknown" "" "Romano Ward syndrome, Sudden Infant Death Syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120361" "00404" "00147749" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120362" "00404" "00147750" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120364" "00404" "00147752" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120365" "00404" "00147753" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120366" "00404" "00147754" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120367" "00404" "00147755" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120368" "00404" "00147756" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120369" "00404" "00147757" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120370" "00404" "00147758" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120371" "00404" "00147759" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120372" "00404" "00147760" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120373" "00404" "00147761" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120374" "00404" "00147762" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120375" "00404" "00147763" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120376" "00404" "00147764" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120377" "00404" "00147765" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120378" "00404" "00147766" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120379" "00404" "00147767" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120380" "00404" "00147768" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120381" "00404" "00147769" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120382" "00404" "00147770" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120383" "00404" "00147771" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120384" "00404" "00147772" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120385" "00404" "00147773" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120386" "00404" "00147774" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120387" "00404" "00147775" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120389" "02087" "00147777" "00006" "Unknown" "" "Sudden Infant Death Syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120390" "00404" "00147778" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120391" "00404" "00147779" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120392" "00404" "00147780" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120393" "00404" "00147781" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120394" "00404" "00147782" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120395" "00404" "00147783" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120396" "00404" "00147784" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120397" "00404" "00147785" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120398" "00404" "00147786" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120399" "00198" "00147787" "00006" "Unknown" "" "Drug-induced Torsade de Pointes, Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120400" "00198" "00147788" "00006" "Unknown" "" "Drug-induced Torsade de Pointes, Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120401" "00198" "00147789" "00006" "Unknown" "" "Drug-induced Torsade de Pointes, Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120402" "00404" "00147790" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120403" "00404" "00147791" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120405" "00404" "00147793" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120406" "00404" "00147794" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120407" "00404" "00147795" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120408" "00404" "00147796" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120409" "00404" "00147797" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120410" "00404" "00147798" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120412" "00404" "00147800" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120414" "00404" "00147802" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120415" "00404" "00147803" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120416" "00404" "00147804" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120417" "00404" "00147805" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120418" "00404" "00147806" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120419" "00404" "00147807" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120420" "00404" "00147808" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120421" "00404" "00147809" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120423" "00404" "00147811" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120424" "00404" "00147812" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120425" "00404" "00147813" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120426" "00404" "00147814" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120428" "00404" "00147816" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120429" "00404" "00147817" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120430" "00404" "00147818" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120431" "00404" "00147819" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120432" "00404" "00147820" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120433" "00404" "00147821" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120435" "00404" "00147823" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120436" "00404" "00147824" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120437" "00404" "00147825" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120438" "00404" "00147826" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120439" "00404" "00147827" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120440" "00404" "00147828" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120441" "00404" "00147829" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120442" "00404" "00147830" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120443" "00404" "00147831" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120444" "00404" "00147832" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120445" "00404" "00147833" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120446" "00404" "00147834" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120447" "00404" "00147835" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120448" "00404" "00147836" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120450" "00404" "00147838" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120451" "00404" "00147839" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120453" "00198" "00147841" "00006" "Unknown" "" "Drug-induced Torsade de Pointes" "" "" "" "" "" "" "" "" "" "" "" "" "0000120454" "00404" "00147842" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120455" "00404" "00147843" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120456" "00404" "00147844" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120457" "00404" "00147845" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120458" "00404" "00147846" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120459" "00404" "00147847" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120460" "00404" "00147848" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120461" "00404" "00147849" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120462" "00404" "00147850" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" 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"" "" "" "0000120473" "00404" "00147861" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120475" "00404" "00147863" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120476" "00404" "00147864" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120477" "00404" "00147865" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120478" "00404" "00147866" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120479" "00404" "00147867" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120480" "00404" "00147868" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120481" "00404" "00147869" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120482" "00404" "00147870" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120483" "00404" "00147871" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120484" "00404" "00147872" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120485" "00404" "00147873" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120486" "00404" "00147874" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120487" "00404" "00147875" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120488" "00404" "00147876" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120489" "00404" "00147877" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120490" "00404" "00147878" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120491" "00404" "00147879" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120492" "00404" "00147880" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120493" "00404" "00147881" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120494" "00404" "00147882" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120495" "00404" "00147883" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120496" "00404" "00147884" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120498" "00404" "00147886" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120499" "00404" "00147887" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120500" "00404" "00147888" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120501" "00404" "00147889" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120503" "00404" "00147891" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120504" "00404" "00147892" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120505" "00404" "00147893" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120506" "00404" "00147894" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120507" "00404" "00147895" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120508" "00404" "00147896" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120509" "00404" "00147897" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120510" "00404" "00147898" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120511" "00404" "00147899" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120512" "00404" "00147900" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120513" "00404" "00147901" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120514" "00404" "00147902" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120515" "00404" "00147903" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120516" "00404" "00147904" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120517" "00404" "00147905" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120518" "00404" "00147906" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120519" "00404" "00147907" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120520" "00404" "00147908" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120521" "00404" "00147909" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120523" "00404" "00147911" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120524" "00404" "00147912" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120525" "00404" "00147913" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120526" "00404" "00147914" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120527" "00404" "00147915" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120528" "00404" "00147916" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120529" "00404" "00147917" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120530" "00404" "00147918" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120531" "00404" "00147919" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120532" "00404" "00147920" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120533" "00404" "00147921" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120534" "00404" "00147922" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120535" "00404" "00147923" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120536" "00404" "00147924" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120537" "00404" "00147925" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120538" "00404" "00147926" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120539" "00404" "00147927" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120540" "00404" "00147928" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120541" "00404" "00147929" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120542" "00404" "00147930" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120543" "00404" "00147931" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120544" "00404" "00147932" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120545" "00404" "00147933" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120546" "00404" "00147934" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120548" "00404" "00147936" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120549" "00404" "00147937" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120550" "00404" "00147938" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120551" "00404" "00147939" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120552" "00404" "00147940" "00006" "Familial, autosomal dominant" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120553" "00404" "00147941" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120554" "00404" "00147942" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120555" "00198" "00147943" "00006" "Unknown" "" "Romano Ward syndrome, Drug-induced Torsade de Pointes" "" "" "" "" "" "" "" "" "" "" "" "" "0000120556" "00404" "00147944" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120557" "00404" "00147945" "00006" "Unknown" "" "Romano Ward 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"00147955" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120568" "00404" "00147956" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120569" "00404" "00147957" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120570" "00404" "00147958" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120571" "00404" "00147959" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120572" "02087" "00147960" "00006" "Unknown" "" "Sudden Infant Death Syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120573" "00404" "00147961" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120574" "00404" "00147962" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120575" "00404" "00147963" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120576" "00404" "00147964" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120577" "00404" "00147965" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120578" "00404" "00147966" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120579" "00404" "00147967" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120580" "00404" "00147968" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120581" "00404" "00147969" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120583" "00404" "00147971" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120584" "00404" "00147972" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120585" "00404" "00147973" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120586" "00404" "00147974" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120587" "00404" "00147975" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120588" "00404" "00147976" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120589" "00404" "00147977" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120590" "00404" "00147978" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120591" "00404" "00147979" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120592" "00404" "00147980" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120593" "00404" "00147981" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120594" "00404" "00147982" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120596" "00404" "00147984" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120597" "00404" "00147985" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120598" "00404" "00147986" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120599" "00404" "00147987" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120600" "00404" "00147988" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120601" "00404" "00147989" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120602" "00404" "00147990" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120603" "00404" "00147991" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120604" "00404" "00147992" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120605" "00404" "00147993" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120606" "00404" "00147994" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120607" "00404" "00147995" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120608" "00404" "00147996" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120609" "00404" "00147997" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120611" "00404" "00147999" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120612" "00404" "00148000" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120613" "00404" "00148001" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120614" "00404" "00148002" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120615" "00404" "00148003" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120616" "00404" "00148004" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120617" "00404" "00148005" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120618" "00404" "00148006" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120619" "00404" "00148007" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120620" "00404" "00148008" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120621" "00404" "00148009" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120622" "00404" "00148010" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120623" "00404" "00148011" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120624" "00404" "00148012" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120625" "00404" "00148013" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120626" "00404" "00148014" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120628" "00404" "00148016" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120629" "00404" "00148017" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120630" "00404" "00148018" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120631" "00404" "00148019" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120632" "00404" "00148020" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120633" "00404" "00148021" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120634" "00404" "00148022" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120635" "00404" "00148023" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120636" "00404" "00148024" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120637" "00404" "00148025" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120638" "00404" "00148026" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120639" "00404" "00148027" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120640" "00404" "00148028" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120641" "00404" "00148029" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120642" "00404" "00148030" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120643" "00404" "00148031" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120644" "00198" "00148032" "00006" "Unknown" "" "Romano Ward syndrome, Drug-induced Torsade de Pointes" "" "" "" "" "" "" "" "" "" "" "" "" "0000120646" "00404" "00148034" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120647" "00404" "00148035" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120648" "00404" "00148036" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120649" "00404" "00148037" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120650" "00404" "00148038" "00006" "Unknown" "" "Romano Ward syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000120776" "00404" "00148285" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120782" "00404" "00147701" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120784" "00404" "00147852" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120790" "00404" "00147862" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120791" "00404" "00147890" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120792" "00404" "00147840" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120793" "00404" "00147810" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120794" "00404" "00147799" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120796" "00404" "00147792" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120797" "00404" "00147935" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120798" "00404" "00147885" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120799" "00404" "00147950" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120856" "00404" "00148345" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120857" "00404" "00148346" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120858" "00404" "00148347" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120859" "00404" "00148348" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120860" "00404" "00148349" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120861" "00404" "00148350" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120862" "00404" "00148351" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120863" "00404" "00148352" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120864" "00404" "00148353" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120865" "00404" "00148354" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120866" "00404" "00148355" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120867" "00404" "00148356" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120868" "00404" "00148357" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120869" "00404" "00148358" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120870" "00404" "00148359" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120871" "00404" "00148360" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120872" "00404" "00148361" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120873" "00404" "00148362" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120874" "00404" "00148363" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120875" "00404" "00148364" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120876" "00404" "00148365" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120877" "00404" "00148366" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120878" "00404" "00148367" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120879" "00404" "00148368" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120880" "00404" "00148369" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120881" "00404" "00148370" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120882" "00404" "00148371" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120883" "00404" "00148372" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120884" "00404" "00148373" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120885" "00404" "00148374" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120886" "00404" "00148375" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120887" "00404" "00148376" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120888" "00404" "00148377" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120889" "00404" "00148378" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120890" "00404" "00148379" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120891" "00404" "00148380" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120892" "00404" "00148381" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120893" "00404" "00148382" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120894" "00404" "00148383" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120895" "00404" "00148384" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120896" "00404" "00148385" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120897" "00404" "00148386" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120898" "00404" "00148387" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120899" "00404" "00148388" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120900" "00404" "00148389" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120901" "00404" "00148390" "00006" "Unknown" "" "long-QT syndrome" "" "" "" "" "" "" "" "" "" "" "long-QT syndrome" "" "0000120985" "00404" "00147970" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120986" "00404" "00147801" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120987" "00404" "00147815" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120988" "00404" "00147822" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120989" "00404" "00147910" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155750" "00118" "00207981" "02950" "Unknown" "" "arterial hypertension" "" "" "" "" "" "" "" "" "" "" "paroxysmal atrial fibrillation" "" "0000201586" "00198" "00263149" "01164" "Unknown" "" "Abnormal EKG (HP:0003115); Prolonged QTc interval (HP:0005184); Syncope (HP:0001279); Abnormality of the cardiovascular system (HP:0001626)" "" "" "" "" "" "" "" "" "" "" "" "" "0000201587" "00198" "00263151" "01164" "Unknown" "" "Abnormality of the skin (HP:0000951); Cafe-au-lait spot (HP:0000957)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207725" "00198" "00269929" "01164" "Unknown" "" "Muscular hypotonia (HP:0001252); Joint hypermobility (HP:0001382); Delayed gross motor development (HP:0002194); Elevated serum creatine phosphokinase (HP:0003236)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207726" "00198" "00269930" "01164" "Unknown" "" "Prolonged QT interval (HP:0001657)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207727" "00198" "00269931" "01164" "Unknown" "" "Abnormality of muscle physiology (HP:0011804); Muscle weakness (HP:0001324)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207728" "00198" "00269932" "01164" "Unknown" "" "Abnormality of cardiovascular system physiology (HP:0011025); Prolonged QT interval (HP:0001657)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207729" "00198" "00269933" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Abnormality of circulating enzyme level (HP:0011021); Abnormality of muscle physiology (HP:0011804); Muscle weakness (HP:0001324); Dystonia (HP:0001332); Elevated serum creatine phosphokinase (HP:0003236)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207779" "05104" "00270539" "01164" "Unknown" "" "HPOs: Mixed demyelinating and axonal polyneuropathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000207780" "00614" "00270540" "01164" "Unknown" "" "HPOs: Tall stature; Macrocephaly; Abnormality of the skull; Global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000207781" "02354" "00270541" "01164" "Unknown" "" "HPOs: Tinnitus; Nausea; Gait ataxia; Vertigo; Vestibular nystagmus, Seizures; Intracranial hemorrhage" "" "" "" "" "" "" "" "" "" "" "2" "" "0000207945" "00198" "00271338" "01164" "Unknown" "" "Hyperkinesis (HP:0002487); Focal white matter lesions (HP:0007042); Abnormality of the nervous system (HP:0000707)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207946" "00198" "00271339" "01164" "Unknown" "" "Abnormality of cardiovascular system physiology (HP:0011025); Prolonged QT interval (HP:0001657); Abnormality of the lung (HP:0002088); Asthma (HP:0002099)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207971" "00198" "00271364" "01164" "Unknown" "" "Prolonged QT interval (HP:0001657)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207972" "00198" "00271365" "01164" "Unknown" "" "Cardiomyopathy (HP:0001638)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207973" "00198" "00271366" "01164" "Unknown" "" "Aortic aneurysm (HP:0004942)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207974" "00198" "00271367" "01164" "Unknown" "" "Breast carcinoma (HP:0003002); Myalgia (HP:0003326); Concentric hypertrophic cardiomyopathy (HP:0005157)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207975" "00198" "00271368" "01164" "Unknown" "" "Spinal muscular atrophy (HP:0007269)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207976" "00198" "00271369" "01164" "Unknown" "" "Visual field defect (HP:0001123); Nyctalopia (HP:0000662); Abnormality of retinal pigmentation (HP:0007703)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207977" "00198" "00271370" "01164" "Unknown" "" "Muscle fiber inclusion bodies (HP:0100299); Tetraparesis (HP:0002273); Congenital muscular dystrophy (HP:0003741)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207978" "00198" "00271371" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Abnormal facial shape (HP:0001999); Hypospadias (HP:0000047); Hypermetropia (HP:0000540)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207979" "00198" "00271372" "01164" "Unknown" "" "Severe global developmental delay (HP:0011344); Infantile spasms (HP:0012469)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207980" "00198" "00271373" "01164" "Unknown" "" "Muscular hypotonia (HP:0001252); Motor delay (HP:0001270)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207981" "00198" "00271374" "01164" "Unknown" "" "Abnormality of coordination (HP:0011443); Episodic ataxia (HP:0002131)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207982" "00198" "00271375" "01164" "Unknown" "" "Abnormal eating behavior (HP:0100738); Abnormality of muscle morphology (HP:0011805); Abnormal eye morphology (HP:0012372); Abnormality of nervous system physiology (HP:0012638); Motor delay (HP:0001270); Growth abnormality (HP:0001507); Muscular dystrophy (HP:0003560); Short stature (HP:0004322); Iris coloboma (HP:0000612); Behavioral abnormality (HP:0000708)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207983" "00198" "00271376" "01164" "Unknown" "" "Abnormality of central motor function (HP:0011442); Abnormality of muscle physiology (HP:0011804); Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Abnormality of nervous system physiology (HP:0012638); Hyperammonemia (HP:0001987); Generalized seizures (HP:0002197); Abnormality of nitrogen compound homeostasis (HP:0004364)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207984" "00198" "00271377" "01164" "Unknown" "" "Glaucoma (HP:0000501)" "" "" "" "" "" "" "" "" "" "" "" "" "0000208006" "00198" "00271398" "01164" "Unknown" "" "Syncope (HP:0001279); Prolonged QT interval (HP:0001657)" "" "" "" "" "" "" "" "" "" "" "" "" "0000208007" "00198" "00271399" "01164" "Unknown" "" "Right bundle branch block (HP:0011712); Abnormality of the cardiovascular system (HP:0001626); Abnormal atrioventricular conduction (HP:0005150); Prolonged QTc interval (HP:0005184)" "" "" "" "" "" "" "" "" "" "" "" "" "0000208022" "00198" "00271414" "01164" "Unknown" "" "Phenotypic abnormality (HP:0000118)" "" "" "" "" "" "" "" "" "" "" "" "" "0000208026" "00198" "00271418" "01164" "Unknown" "" "Ventricular fibrillation (HP:0001663); Cardiac arrest (HP:0001695)" "" "" "" "" "" "" "" "" "" "" "" "" "0000220833" "00198" "00287097" "01807" "Unknown" "" "Ventricular fibrillation (HP:0001663); Aborted sudden cardiac death (HP:0031628)" "" "" "" "" "" "" "" "" "" "" "" "" "0000224097" "00198" "00296697" "00006" "Unknown" "25y" "arrhythmia, long QT" "" "" "" "" "" "" "" "" "" "" "arrhythmia" "" "0000224099" "00198" "00296699" "00006" "Unknown" "75y" "hypertrophic cardiomyopathy, arrhythmia, afibrilation" "" "" "" "" "" "" "" "" "" "" "arrhythmia" "" "0000242314" "04172" "00320286" "00006" "Unknown" "31y" "see paper; ..., survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000242952" "00139" "00324410" "00006" "Isolated (sporadic)" "5y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000310897" "00198" "00419616" "02300" "Isolated (sporadic)" "38y" "cardiomyopathy, scoliosis, myopia" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000318951" "00198" "00428005" "00006" "Familial, autosomal dominant" "12y" "" "" "" "" "" "" "" "" "" "" "Long QT syndrome 2" "" "" "0000318970" "00198" "00428024" "00006" "Familial, autosomal dominant" "23y" "" "" "" "" "" "" "" "" "" "" "Long QT syndrome 2" "" "" "0000337368" "05611" "00448154" "00006" "Isolated (sporadic)" "18y4m" "see paper; ..., birth 38w induced vaginal; mixed conductive and SNHL (bilateral hearing aids); eustachian tube dysfunction; myopia, dry eye syndrome, blurry vision; developmental motor delay; 15m-walk; fine motor difficulties; developmental delay language; articulation problems; Autistic features; ADHD; increased sensitivity to sound and loud noises and certain textures, does not like being touched, anxiety disorder, depression; obstructive sleep apnea (CPAP); 10y-neuropsychology evaluation general intellectual abilities were average (IQ=100), relative weaknesses in visuo-motor coordination and executive functioning skills related to planning and decision-making; no special education; no congenital anomalies; cardiac echo normal, borderline prolonged QT; normal renal ultrasound; MRI brain normal; cyclic vomiting, gastroparesis, irritable bowel syndrome, GERD, constipation, recurrent rectal prolapse; post-operative hypothyroidism (s/p total thyroidectomy); 15y-parathyroid adenoma after neck mass removed, histology consistent with a parathyroid adenoma; no sarcoma; no uterine myoma; low risk papillary thyroid microcarcinoma, non-metastatic, in the context of thyroidectomy with thyroiditis (remnant ablation when pt was 13 yo). Hepatic adenoma; no hypotonia; no seizures; dysmorphic features; prominent ears, simple outer helix with unusual skin creases (appear similar to cutis aplasia); relatively long palpebral fissures, down slanting, hooded eyelids , possible hypertelorism; nose prominent tip, long columella; asymmetric face; long philtrum, thin upper vermillion; macrocephaly; hiatal hernia, umbilical and epigastric hernias (3.5m-repaired); chronic pain disorder related to EDS and joint dislocations, Beighton score=6/9; hemangioma of subcutaneous tissue, recurrent lymphatic malformation excision from his left axilla, nevus excision from his scalp, and confirmed lymphatic malformation from right palm, several skin tags, 3 atypical cafe au lait spots, dermoid leion on scalp; idiopathic intracranial hypertension, migraine headache, tremor, pots (chronic dizziness, chronic fatigue and weakness), chronic hoarseness, mild-moderate obstructive breathing pattern, proteinuria, likely has intermittent anemia of inflammation" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000341834" "04172" "00453188" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" "0000341835" "04172" "00453189" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341836" "04172" "00453190" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" "0000342389" "00152" "00453732" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342415" "00152" "00453758" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342422" "00152" "00453765" "00006" "Unknown" "" "large ascending aneurysm, congestive heart failure after elective cardiac surgeries" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342423" "00152" "00453766" "00006" "Unknown" "" "junctional ectopic tachycardia and non-sustained vt" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342424" "00152" "00453767" "00006" "Unknown" "" "ventricular septal defect" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## Screenings ## Do not remove or alter this header ## ## Count = 862 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000004170" "00004242" "1" "00066" "00066" "2014-01-18 11:53:47" "" "" "SEQ" "DNA" "" "" "0000004171" "00004243" "1" "00066" "00066" "2014-01-18 12:04:24" "" "" "SEQ" "DNA" "" "" "0000004172" "00004244" "1" "00066" "00066" "2014-01-18 12:08:19" "" "" "SEQ" "DNA" "" "" "0000004173" "00004245" "1" "00066" "00066" "2014-01-18 12:13:59" "" "" "SEQ" "DNA" "" "" "0000004174" "00004246" "1" "00066" "00066" "2014-01-18 12:17:34" "" "" "SEQ" "DNA" "" "" "0000004175" "00004247" "1" "00066" "00066" "2014-01-18 12:31:12" "" "" "SEQ" "DNA" "" "" "0000004176" "00004248" "1" "00066" "00066" "2014-01-18 12:34:51" "" "" "SEQ" "DNA" "" "" "0000004177" "00004249" "1" "00066" "00066" "2014-01-18 12:37:59" "" "" "SEQ" "DNA" "" "" "0000004178" "00004250" "1" "00066" "00066" "2014-01-18 12:41:52" "" "" "SEQ" "DNA" "" "" "0000049432" "00049515" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049433" "00049516" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049434" "00049517" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049435" "00049518" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049436" "00049519" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049437" "00049520" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049438" "00049521" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049439" "00049522" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049440" "00049523" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049441" "00049524" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049442" "00049525" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049443" "00049526" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049444" "00049527" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049445" "00049528" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049446" "00049529" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049447" "00049530" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049448" "00049531" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049449" "00049532" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049450" "00049533" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049451" "00049534" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049452" "00049535" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049453" "00049536" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049454" "00049537" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049455" "00049538" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049456" "00049539" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049457" "00049540" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049458" "00049541" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049459" "00049542" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049460" "00049543" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049461" "00049544" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049462" "00049545" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049463" "00049546" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049464" "00049547" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049465" "00049548" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049466" "00049549" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049467" "00049550" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049468" "00049551" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049469" "00049552" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049470" "00049553" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049471" "00049554" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049472" "00049555" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049473" "00049556" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049474" "00049557" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049475" "00049558" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049476" "00049559" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049477" "00049560" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049478" "00049561" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049479" "00049562" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049480" "00049563" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049481" "00049564" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049482" "00049565" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049483" "00049566" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049484" "00049567" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049485" "00049568" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049486" "00049569" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049487" "00049570" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049488" "00049571" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049489" "00049572" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049490" "00049573" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049491" "00049574" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049492" "00049575" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049493" "00049576" "1" "01348" "01348" "2015-08-21 00:07:34" "01348" "2015-09-21 09:17:53" "SEQ" "DNA" "leukocyte" "" "0000049494" "00049577" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049495" "00049578" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049496" "00049579" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049497" "00049580" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049498" "00049581" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049499" "00049582" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049500" "00049583" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049501" "00049584" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049502" "00049585" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049503" "00049586" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049504" "00049587" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049505" "00049588" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049506" "00049589" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049507" "00049590" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049508" "00049591" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049509" "00049592" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049510" "00049593" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049511" "00049594" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049512" "00049595" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049513" "00049596" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049514" "00049597" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049515" "00049598" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049516" "00049599" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049517" "00049600" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049518" "00049601" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049519" "00049602" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049520" "00049603" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049521" "00049604" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049522" "00049605" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049523" "00049606" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049524" "00049607" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049525" "00049608" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049526" "00049609" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049527" "00049610" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049528" "00049611" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049529" "00049612" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049530" "00049613" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049531" "00049614" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049532" "00049615" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049533" "00049616" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049534" "00049617" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049535" "00049618" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049536" "00049619" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049537" "00049620" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049538" "00049621" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049539" "00049622" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049540" "00049623" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049541" "00049624" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049542" "00049625" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049543" "00049626" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049544" "00049627" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049545" "00049628" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049546" "00049629" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049547" "00049630" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049548" "00049631" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049549" "00049632" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049550" "00049633" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049551" "00049634" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049552" "00049635" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049553" "00049636" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049554" "00049637" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049555" "00049638" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049556" "00049639" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049557" "00049640" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049558" "00049641" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049559" "00049642" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049560" "00049643" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049561" "00049644" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049562" "00049645" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049563" "00049646" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049564" "00049647" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049565" "00049648" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049566" "00049649" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049567" "00049650" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049568" "00049651" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049569" "00049652" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049570" "00049653" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049571" "00049654" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049572" "00049655" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049573" "00049656" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049574" "00049657" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049575" "00049658" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049576" "00049659" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049577" "00049660" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049578" "00049661" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049579" "00049662" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049580" "00049663" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049581" "00049664" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049582" "00049665" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049583" "00049666" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049584" "00049667" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049585" "00049668" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049586" "00049669" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049587" "00049670" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049588" "00049671" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049589" "00049672" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049590" "00049673" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049591" "00049674" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049592" "00049675" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049593" "00049676" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049594" "00049677" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049595" "00049678" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049596" "00049679" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049597" "00049680" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049598" "00049681" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049599" "00049682" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049600" "00049683" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049601" "00049684" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049602" "00049685" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049603" "00049686" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049604" "00049687" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049605" "00049688" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049606" "00049689" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049607" "00049690" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049608" "00049691" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049609" "00049692" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049610" "00049693" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049611" "00049694" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049612" "00049695" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049613" "00049696" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049614" "00049697" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049615" "00049698" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049616" "00049699" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049617" "00049700" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049618" "00049701" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049619" "00049702" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049620" "00049703" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049621" "00049704" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049622" "00049705" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049623" "00049706" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049624" "00049707" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049625" "00049708" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049626" "00049709" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049627" "00049710" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049628" "00049711" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049629" "00049712" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049630" "00049713" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049631" "00049714" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049632" "00049715" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049633" "00049716" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049634" "00049717" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049635" "00049718" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049636" "00049719" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049637" "00049720" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049638" "00049721" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049639" "00049722" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049640" "00049723" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049641" "00049724" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049642" "00049725" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049643" "00049726" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049644" "00049727" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049645" "00049728" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049646" "00049729" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049647" "00049730" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049648" "00049731" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049649" "00049732" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049650" "00049733" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049651" "00049734" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049652" "00049735" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049653" "00049736" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049654" "00049737" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049655" "00049738" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049656" "00049739" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049657" "00049740" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049658" "00049741" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049659" "00049742" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049660" "00049743" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049661" "00049744" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049662" "00049745" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049663" "00049746" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049664" "00049747" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049665" "00049748" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049666" "00049749" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049667" "00049750" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049668" "00049751" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049669" "00049752" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049670" "00049753" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049671" "00049754" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049672" "00049755" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049673" "00049756" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049674" "00049757" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049675" "00049758" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049676" "00049759" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049677" "00049760" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049678" "00049761" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049679" "00049762" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049680" "00049763" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049681" "00049764" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049682" "00049765" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049683" "00049766" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049684" "00049767" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049685" "00049768" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049686" "00049769" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049687" "00049770" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049688" "00049771" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049689" "00049772" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049690" "00049773" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049691" "00049774" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049692" "00049775" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049693" "00049776" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049694" "00049777" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049695" "00049778" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049696" "00049779" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049697" "00049780" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049698" "00049781" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049699" "00049782" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049700" "00049783" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049701" "00049784" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049702" "00049785" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049703" "00049786" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049704" "00049787" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049705" "00049788" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049706" "00049789" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049707" "00049790" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049708" "00049791" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049709" "00049792" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000049710" "00049793" "1" "01348" "01348" "2015-08-21 00:07:34" "" "" "SEQ" "DNA" "leukocyte" "" "0000064287" "00064154" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064293" "00064160" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064329" "00064196" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064842" "00064703" "1" "01601" "01601" "2016-05-10 11:08:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000064845" "00064706" "1" "01601" "01601" "2016-05-10 11:22:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000072511" "00072354" "1" "01606" "01606" "2016-06-06 15:02:10" "" "" "SEQ" "DNA" "" "" "0000129291" "00128453" "1" "02244" "02244" "2017-09-15 17:49:43" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129315" "00128477" "1" "02244" "02244" "2017-09-15 18:42:17" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129330" "00128492" "1" "02244" "02244" "2017-09-15 19:11:33" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000133639" "00132805" "1" "00006" "00006" "2017-11-09 17:58:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000144652" "00143793" "1" "00006" "00006" "2017-12-06 11:00:02" "" "" "DHPLC" "DNA" "" "" "0000144653" "00143794" "1" "00006" "00006" "2017-12-06 11:05:27" "" "" "DHPLC;SEQ" "DNA" "" "" "0000144654" "00143795" "1" "00006" "00006" "2017-12-06 11:11:26" "" "" "DHPLC;SEQ" "DNA" "" "" "0000144655" "00143796" "1" "00006" "00006" "2017-12-06 11:14:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000144656" "00143797" "1" "00006" "00006" "2017-12-06 11:16:39" "" "" "DHPLC;SEQ" "DNA" "" "" "0000148425" "00147570" "1" "00006" "01921" "2010-12-22 12:00:00" "00006" "2018-01-02 18:54:57" "SEQ" "DNA" "" "" "0000148551" "00147696" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148552" "00147697" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148553" "00147698" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148554" "00147699" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148555" "00147700" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148556" "00147701" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148557" "00147702" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148558" "00147703" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148559" "00147704" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148560" "00147705" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148561" "00147706" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148562" "00147707" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148563" "00147708" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148564" "00147709" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148565" "00147710" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148566" "00147711" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148567" "00147712" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148568" "00147713" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148569" "00147714" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148570" "00147715" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148571" "00147716" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148572" "00147717" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148573" "00147718" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148574" "00147719" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000148575" "00147720" "1" "00006" "01921" 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"2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149229" "00148373" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149230" "00148374" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149231" "00148375" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149232" "00148376" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149233" "00148377" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149234" "00148378" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149235" "00148379" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149236" "00148380" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149237" "00148381" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149238" "00148382" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149239" "00148383" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149240" "00148384" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149241" "00148385" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149242" "00148386" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149243" "00148387" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149244" "00148388" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149245" "00148389" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149246" "00148390" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149261" "00148405" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149262" "00148406" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149263" "00148407" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149264" "00148408" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149265" "00148409" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149266" "00148410" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149267" "00148411" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149268" "00148412" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149269" "00148413" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149270" "00148414" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149271" "00148415" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149272" "00148416" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149273" "00148417" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149274" "00148418" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149275" "00148419" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149286" "00148430" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149287" "00148431" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149288" "00148432" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149289" "00148433" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149290" "00148434" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149291" "00148435" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149292" "00148436" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149293" "00148437" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149294" "00148438" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149295" "00148439" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149302" "00148446" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149303" "00148447" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149309" "00148453" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149310" "00148454" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000181839" "00180903" "1" "01601" "01601" "2018-09-10 13:27:08" "01601" "2018-09-10 14:14:30" "SEQ-NG-I" "DNA" "" "100 genes associated with cardiac diseases" "0000209028" "00207981" "1" "02950" "02950" "2018-12-06 10:23:48" "" "" "SEQ-NG-I" "DNA" "saliva" "" "0000264255" "00263149" "1" "01164" "01164" "2019-08-23 12:26:53" "" "" "SEQ-NG-S" "DNA" "" "" "0000264257" "00263151" "1" "01164" "01164" "2019-08-23 12:26:53" "" "" "SEQ-NG-S" "DNA" "" "" "0000271082" "00269929" "1" "01164" "01164" "2019-12-10 12:33:55" "" "" "SEQ-NG-S" "DNA" "" "" "0000271083" "00269930" "1" "01164" "01164" "2019-12-10 12:33:57" "" "" "SEQ-NG-S" "DNA" "" "" "0000271084" "00269931" "1" "01164" "01164" "2019-12-10 12:33:59" "" "" "SEQ-NG-S" "DNA" "" "" "0000271085" "00269932" "1" "01164" "01164" "2019-12-10 12:34:02" "" "" "SEQ-NG-S" "DNA" "" "" "0000271086" "00269933" "1" "01164" "01164" "2019-12-10 12:34:04" "" "" "SEQ-NG-S" "DNA" "" "" "0000271691" "00270539" "1" "01164" "01164" "2019-12-13 14:53:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000271692" "00270540" "1" "01164" "01164" "2019-12-13 15:01:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000271693" "00270541" "1" "01164" "01164" "2019-12-13 15:06:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000272489" "00271338" "1" "01164" "01164" "2019-12-18 16:25:02" "" "" "SEQ-NG-S" "DNA" "" "" "0000272490" "00271339" "1" "01164" "01164" "2019-12-18 16:25:04" "" "" "SEQ-NG-S" "DNA" "" "" "0000272515" "00271364" "1" "01164" "01164" "2019-12-18 16:25:55" "" "" "SEQ-NG-S" "DNA" "" "" "0000272516" "00271365" "1" "01164" "01164" "2019-12-18 16:25:57" "" "" "SEQ-NG-S" "DNA" "" "" "0000272517" "00271366" "1" "01164" "01164" "2019-12-18 16:25:59" "" "" "SEQ-NG-S" "DNA" "" "" "0000272518" "00271367" "1" "01164" "01164" "2019-12-18 16:26:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000272519" "00271368" "1" "01164" "01164" "2019-12-18 16:26:03" "" "" "SEQ-NG-S" "DNA" "" "" "0000272520" "00271369" "1" "01164" "01164" "2019-12-18 16:26:05" "" "" "SEQ-NG-S" "DNA" "" "" "0000272521" "00271370" "1" "01164" "01164" "2019-12-18 16:26:07" "" "" "SEQ-NG-S" "DNA" "" "" "0000272522" "00271371" "1" "01164" "01164" "2019-12-18 16:26:09" "" "" "SEQ-NG-S" "DNA" "" "" "0000272523" "00271372" "1" "01164" "01164" "2019-12-18 16:26:11" "" "" "SEQ-NG-S" "DNA" "" "" "0000272524" "00271373" "1" "01164" "01164" "2019-12-18 16:26:12" "" "" "SEQ-NG-S" "DNA" "" "" "0000272525" "00271374" "1" "01164" "01164" "2019-12-18 16:26:14" "" "" "SEQ-NG-S" "DNA" "" "" "0000272526" "00271375" "1" "01164" "01164" "2019-12-18 16:26:16" "" "" "SEQ-NG-S" "DNA" "" "" "0000272527" "00271376" "1" "01164" "01164" "2019-12-18 16:26:18" "" "" "SEQ-NG-S" "DNA" "" "" "0000272528" "00271377" "1" "01164" "01164" "2019-12-18 16:26:20" "" "" "SEQ-NG-S" "DNA" "" "" "0000272549" "00271398" "1" "01164" "01164" "2019-12-19 11:55:38" "" "" "SEQ-NG-S" "DNA" "" "" "0000272550" "00271399" "1" "01164" "01164" "2019-12-19 11:55:40" "" "" "SEQ-NG-S" "DNA" "" "" "0000272565" "00271414" "1" "01164" "01164" "2019-12-19 11:56:19" "" "" "SEQ-NG-S" "DNA" "" "" "0000272569" "00271418" "1" "01164" "01164" "2019-12-19 11:56:28" "" "" "SEQ-NG-S" "DNA" "" "" "0000288262" "00287097" "1" "01807" "01807" "2020-02-12 11:23:51" "" "" "SEQ" "DNA" "" "" "0000295520" "00294352" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295521" "00294353" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295522" "00294354" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295523" "00294355" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295524" "00294356" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295525" "00294357" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295526" "00294358" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295527" "00294359" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295528" "00294360" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295529" "00294361" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295530" "00294362" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295531" "00294363" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295532" "00294364" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295533" "00294365" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295534" "00294366" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295535" "00294367" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295536" "00294368" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295537" "00294369" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296385" "00295217" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296386" "00295218" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296387" "00295219" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296487" "00295319" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296488" "00295320" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296489" "00295321" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296538" "00295370" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296643" "00295475" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297807" "00296697" "1" "00006" "00006" "2020-04-11 10:26:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297809" "00296699" "1" "00006" "00006" "2020-04-11 10:26:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000306265" "00305136" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306469" "00305340" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000321472" "00320286" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000325600" "00324410" "1" "00006" "00006" "2020-12-11 17:27:18" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000373266" "00372038" "1" "00006" "00006" "2021-05-06 08:53:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000418967" "00417674" "1" "04384" "04384" "2022-09-21 13:08:14" "" "" "SEQ-NG" "DNA" "" "" "0000420920" "00419616" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000429418" "00428005" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "duo WES" "0000429437" "00428024" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000449729" "00448154" "1" "00006" "00006" "2024-02-21 16:36:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS trio" "0000454799" "00453188" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454800" "00453189" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454801" "00453190" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000455344" "00453732" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455370" "00453758" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455377" "00453765" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455378" "00453766" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" 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"0000148923" "KCNH2" "0000148924" "KCNH2" "0000148925" "KCNH2" "0000148926" "KCNH2" "0000148927" "KCNH2" "0000148928" "KCNH2" "0000148929" "KCNH2" "0000148930" "KCNH2" "0000148931" "KCNH2" "0000148932" "KCNH2" "0000148933" "KCNH2" "0000148934" "KCNH2" "0000148935" "KCNH2" "0000148936" "KCNH2" "0000148937" "KCNH2" "0000148938" "KCNH2" "0000148939" "KCNH2" "0000148940" "KCNH2" "0000148941" "KCNH2" "0000148942" "KCNH2" "0000148943" "KCNH2" "0000148944" "KCNH2" "0000148945" "KCNH2" "0000148946" "KCNH2" "0000148947" "KCNH2" "0000148948" "KCNH2" "0000148949" "KCNH2" "0000148950" "KCNH2" "0000148951" "KCNH2" "0000148952" "KCNH2" "0000148953" "KCNH2" "0000148954" "KCNH2" "0000148955" "KCNH2" "0000148956" "KCNH2" "0000148957" "KCNH2" "0000148958" "KCNH2" "0000149140" "KCNH2" "0000149145" "KCNH2" "0000149201" "KCNH2" "0000149202" "KCNH2" "0000149203" "KCNH2" "0000149204" "KCNH2" "0000149205" "KCNH2" "0000149206" "KCNH2" "0000149207" "KCNH2" "0000149208" "KCNH2" "0000149209" "KCNH2" "0000149210" "KCNH2" "0000149211" "KCNH2" "0000149212" "KCNH2" "0000149213" "KCNH2" "0000149214" "KCNH2" "0000149215" "KCNH2" "0000149216" "KCNH2" "0000149217" "KCNH2" "0000149218" "KCNH2" "0000149219" "KCNH2" "0000149220" "KCNH2" "0000149221" "KCNH2" "0000149222" "KCNH2" "0000149223" "KCNH2" "0000149224" "KCNH2" "0000149225" "KCNH2" "0000149226" "KCNH2" "0000149227" "KCNH2" "0000149228" "KCNH2" "0000149229" "KCNH2" "0000149230" "KCNH2" "0000149231" "KCNH2" "0000149232" "KCNH2" "0000149233" "KCNH2" "0000149234" "KCNH2" "0000149235" "KCNH2" "0000149236" "KCNH2" "0000149237" "KCNH2" "0000149238" "KCNH2" "0000149239" "KCNH2" "0000149240" "KCNH2" "0000149241" "KCNH2" "0000149242" "KCNH2" "0000149243" "KCNH2" "0000149244" "KCNH2" "0000149245" "KCNH2" "0000149246" "KCNH2" "0000149261" "KCNH2" "0000149262" "KCNH2" "0000149263" "KCNH2" "0000149264" "KCNH2" "0000149265" "KCNH2" "0000149266" "KCNH2" "0000149267" "KCNH2" "0000149268" "KCNH2" "0000149269" "KCNH2" "0000149270" "KCNH2" "0000149271" "KCNH2" "0000149272" "KCNH2" "0000149273" "KCNH2" "0000149274" "KCNH2" "0000149275" "KCNH2" "0000149286" "KCNH2" "0000149287" "KCNH2" "0000149288" "KCNH2" "0000149289" "KCNH2" "0000149290" "KCNH2" "0000149291" "KCNH2" "0000149292" "KCNH2" "0000149293" "KCNH2" "0000149294" "KCNH2" "0000149295" "KCNH2" "0000149302" "KCNH2" "0000149303" "KCNH2" "0000149309" "KCNH2" "0000149310" "KCNH2" "0000209028" "KCNH2" "0000271691" "KCNH2" "0000271692" "KCNH2" "0000271693" "KCNH2" "0000297807" "KCNH2" "0000297809" "KCNH2" "0000297809" "MYH7" "0000321472" "DES" "0000321472" "KCNH2" "0000325600" "RAB39B" "0000418967" "KCNH2" ## 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 = 1170 "{{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}}" "0000023130" "0" "55" "7" "150655548" "150655548" "subst" "0" "00066" "KCNH2_000650" "g.150655548G>A" "" "{PMID:Riuro 2014:24667783}" "" "" "" "Germline" "" "" "0" "" "" "g.150958460G>A" "" "VUS" "" "0000023131" "1" "15" "7" "150655351" "150655351" "subst" "0" "00066" "KCNH2_000651" "g.150655351C>G" "" "{PMID:Riuro 2014:24667783}" "" "" "" "Germline" "no" "" "0" "" "" "g.150958263C>G" "" "benign" "" "0000023132" "1" "95" "7" "150654700" "150654700" "del" "0" "00066" "KCNH2_000652" "g.150654700del" "" "{PMID:Riuro 2014:24667783}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000023133" "1" "55" "7" "150654440" "150654440" "subst" "5.38847E-5" "00066" "KCNH2_000653" "g.150654440C>T" "" "{PMID:Riuro 2014:24667783}" "" "" "" "Germline" "" "" "0" "" "" "g.150957352C>T" "" "VUS" "" "0000023134" "1" "95" "7" "15648323" "15648323" "del" "0" "00066" "KCNH2_000654" "g.15648323del" "" "{PMID:Riuro 2014:24667783}" "" "" "" "Germline" "" "" "0" "" "" "g.15608698del" "" "pathogenic" "" "0000023135" "21" "95" "7" "150646117" "150646117" "subst" "0" "00066" "KCNH2_000655" "g.150646117C>A" "" "{PMID:Riuro 2014:24667783}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150949029C>A" "" "pathogenic" "" "0000023136" "0" "55" "7" "150645971" "150645971" "subst" "0" "00066" "KCNH2_000656" "g.150645971G>C" "" "{PMID:Riuro 2014:24667783}" "" "" "" "Unknown" "" "" "0" "" "" "g.150948883G>C" "" "VUS" "" "0000023137" "21" "55" "7" "150645585" "150645585" "subst" "0" "00066" "KCNH2_000657" "g.150645585C>A" "" "{PMID:Riuro 2014:24667783}" "" "" "" "Germline" "" "" "0" "" "" "g.150948497C>A" "" "VUS" "" "0000023138" "0" "55" "7" "150645555" "150645555" "subst" "0" "00066" "KCNH2_000658" "g.150645555G>C" "" "{PMID:Riuro 2014:24667783}" "" "" "" "Unknown" "?" "" "0" "" "" "g.150948467G>C" "" "VUS" "" "0000036849" "2" "75" "7" "150648799" "150648799" "subst" "0" "00006" "KCNH2_000021" "g.150648799G>A" "" "{PMID:Riuro 2014:24667783}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150951711G>A" "" "likely pathogenic" "" "0000036850" "0" "75" "7" "150648643" "150648643" "subst" "0" "00006" "KCNH2_000017" "g.150648643G>A" "" "{PMID:Riuro 2014:24667783}" "" "" "" "De novo" "" "" "0" "" "" "g.150951555G>A" "" "likely pathogenic" "" "0000078319" "1" "90" "7" "150675000" "150675000" "subst" "0" "01348" "KCNH2_000792" "g.150675000A>C" "" "" "" "(Met1Thr)" "" "Germline" "" "" "0" "" "" "g.150977912A>C" "" "pathogenic" "" "0000078320" "1" "50" "7" "150674964" "150674964" "subst" "8.48954E-5" "01348" "KCNH2_000791" "g.150674964G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150977876G>T" "" "VUS" "" "0000078321" "1" "50" "7" "150674947" "150674958" "del" "0" "01348" "KCNH2_000790" "g.150674947_150674958del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150977859_150977870del" "" "VUS" "" "0000078322" "1" "50" "7" "150674946" "150674946" "subst" "0" "01348" "KCNH2_000789" "g.150674946A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150977858A>G" "" "VUS" "" "0000078323" "1" "50" "7" "150674943" "150674943" "subst" "0" "01348" "KCNH2_000788" "g.150674943C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150977855C>A" "" "VUS" "" "0000078324" "1" "90" "7" "150672025" "150672025" "del" "0" "01348" "KCNH2_000787" "g.150672025del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974937del" "" "pathogenic" "" "0000078325" "1" "50" "7" "150671981" "150671981" "subst" "0" "01348" "KCNH2_000786" "g.150671981A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974893A>C" "" "VUS" "" "0000078326" "1" "50" "7" "150671979" "150671979" "subst" "0" "01348" "KCNH2_000785" "g.150671979A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974891A>C" "" "VUS" "" "0000078327" "1" "50" "7" "150671975" "150671975" "subst" "0" "01348" "KCNH2_000783" "g.150671975C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974887C>A" "" "VUS" "" "0000078328" "1" "50" "7" "150671976" "150671976" "subst" "0" "01348" "KCNH2_000784" "g.150671976A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974888A>C" "" "VUS" "" "0000078329" "1" "50" "7" "150671971" "150671971" "subst" "0" "01348" "KCNH2_000782" "g.150671971G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974883G>T" "" "VUS" "" "0000078330" "1" "50" "7" "150671961" "150671961" "subst" "0" "01348" "KCNH2_000781" "g.150671961A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974873A>G" "" "VUS" "" "0000078331" "1" "90" "7" "150671958" "150671958" "del" "0" "01348" "KCNH2_000780" "g.150671958del" "" "" "" "148delG" "" "Germline" "" "" "0" "" "" "g.150974870del" "" "pathogenic" "" "0000078332" "1" "50" "7" "150671948" "150671948" "subst" "0" "01348" "KCNH2_000778" "g.150671948C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974860C>T" "" "VUS" "" "0000078333" "1" "50" "7" "150671948" "150671948" "subst" "0" "01348" "KCNH2_000778" "g.150671948C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974860C>T" "" "VUS" "" "0000078334" "1" "50" "7" "150671949" "150671949" "subst" "0" "01348" "KCNH2_000779" "g.150671949C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974861C>T" "" "VUS" "" "0000078335" "1" "50" "7" "150671949" "150671949" "subst" "0" "01348" "KCNH2_000779" "g.150671949C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974861C>T" "" "VUS" "" "0000078336" "1" "50" "7" "150671939" "150671939" "subst" "0" "01348" "KCNH2_000849" "g.150671939C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974851C>T" "" "VUS" "" "0000078337" "1" "50" "7" "150671934" "150671934" "subst" "0" "01348" "KCNH2_000777" "g.150671934C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974846C>T" "" "VUS" "" "0000078338" "1" "50" "7" "150671934" "150671934" "subst" "0" "01348" "KCNH2_000777" "g.150671934C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974846C>T" "" "VUS" "" "0000078339" "1" "50" "7" "150671915" "150671915" "subst" "0" "01348" "KCNH2_000776" "g.150671915C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974827C>T" "" "VUS" "" "0000078340" "1" "50" "7" "150671904" "150671904" "subst" "0" "01348" "KCNH2_000775" "g.150671904A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974816A>C" "" "VUS" "" "0000078341" "1" "50" "7" "150671895" "150671895" "subst" "0" "01348" "KCNH2_000774" "g.150671895C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974807C>T" "" "VUS" "" "0000078342" "1" "50" "7" "150671891" "150671891" "subst" "0" "01348" "KCNH2_000772" "g.150671891G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974803G>A" "" "VUS" "" "0000078343" "1" "50" "7" "150671891" "150671891" "subst" "0" "01348" "KCNH2_000773" "g.150671891G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974803G>T" "" "VUS" "" "0000078344" "1" "90" "7" "150671883" "150671883" "subst" "0" "01348" "KCNH2_000771" "g.150671883G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974795G>A" "" "pathogenic" "" "0000078345" "1" "50" "7" "150671846" "150671846" "subst" "0" "01348" "KCNH2_000770" "g.150671846A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974758A>G" "" "VUS" "" "0000078346" "1" "50" "7" "150671846" "150671846" "subst" "0" "01348" "KCNH2_000770" "g.150671846A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974758A>G" "" "VUS" "" "0000078347" "1" "70" "7" "150655588" "150655589" "ins" "0" "01348" "KCNH2_000000" "g.150655588_150655589insCCTG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150958500_150958501insCCTG" "" "likely pathogenic" "" "0000078348" "1" "50" "7" "150671828" "150671828" "subst" "0.000178613" "01348" "KCNH2_000759" "g.150671828T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974740T>C" "" "VUS" "" "0000078349" "1" "50" "7" "150671810" "150671810" "subst" "0" "01348" "KCNH2_000758" "g.150671810T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974722T>G" "" "VUS" "" "0000078350" "1" "50" "7" "150671808" "150671808" "subst" "0" "01348" "KCNH2_000757" "g.150671808G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150974720G>C" "" "VUS" "" "0000078351" "1" "50" "7" "150656816" "150656816" "subst" "0" "01348" "KCNH2_000756" "g.150656816A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150959728A>C" "" "VUS" "" "0000078352" "1" "50" "7" "150656800" "150656800" "subst" "0" "01348" "KCNH2_000755" "g.150656800T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150959712T>A" "" "VUS" "" "0000078353" "1" "50" "7" "150656792" "150656792" "subst" "0" "01348" "KCNH2_000754" "g.150656792G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150959704G>A" "" "VUS" "" "0000078354" "1" "50" "7" "150656792" "150656792" "subst" "0" "01348" "KCNH2_000754" "g.150656792G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150959704G>A" "" "VUS" "" "0000078355" "1" "50" "7" "150656789" "150656789" "subst" "1.62443E-5" "01348" "KCNH2_000167" "g.150656789C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150959701C>T" "" "VUS" "" "0000078356" "1" "50" "7" "150656761" "150656761" "subst" "0" "01348" "KCNH2_000753" "g.150656761A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150959673A>G" "" "VUS" "" "0000078357" "1" "90" "7" "150656685" "150656685" "dup" "0" "01348" "KCNH2_000751" "g.150656685dup" "" "" "" "453_454insC" "" "Germline" "" "" "0" "" "" "g.150959597dup" "" "pathogenic" "" "0000078358" "1" "90" "7" "150656685" "150656685" "del" "0" "01348" "KCNH2_000752" "g.150656685del" "" "" "" "453delC" "" "Germline" "" "" "0" "" "" "g.150959597del" "" "pathogenic" "" "0000078359" "1" "90" "7" "150656685" "150656685" "dup" "0" "01348" "KCNH2_000751" "g.150656685dup" "" "" "" "453_454insC" "" "Germline" "" "" "0" "" "" "g.150959597dup" "" "pathogenic" "" "0000078360" "1" "90" "7" "150656665" "150656666" "ins" "0" "01348" "KCNH2_000750" "g.150656665_150656666insGCGG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150959577_150959578insGCGG" "" "pathogenic" "" "0000078361" "1" "90" "7" "150655584" "150655584" "dup" "0" "01348" "KCNH2_000749" "g.150655584dup" "" "" "" "480_481insC" "" "Germline" "" "" "0" "" "" "g.150958496dup" "" "pathogenic" "" "0000078362" "1" "90" "7" "150655576" "150655577" "del" "0" "01348" "KCNH2_000748" "g.150655576_150655577del" "" "" "" "486_487delCT" "" "Germline" "" "" "0" "" "" "g.150958488_150958489del" "" "pathogenic" "" "0000078363" "1" "90" "7" "150655508" "150655541" "del" "0" "01348" "KCNH2_000738" "g.150655508_150655541del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150958420_150958453del" "" "pathogenic" "" "0000078364" "1" "90" "7" "150655534" "150655534" "subst" "0" "01348" "KCNH2_000747" "g.150655534C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150958446C>A" "" "pathogenic" "" "0000078365" "1" "50" "7" "150655510" "150655518" "del" "0" "01348" "KCNH2_000151" "g.150655510_150655518del" "" "" "" "560_568delGCGCGGGCG" "" "Germline" "" "" "0" "" "" "g.150958422_150958430del" "" "VUS" "" "0000078366" "1" "50" "7" "150655492" "150655500" "del" "0" "01348" "KCNH2_000737" "g.150655492_150655500del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150958404_150958412del" "" "VUS" "" "0000078367" "1" "50" "7" "150655474" "150655474" "subst" "0" "01348" "KCNH2_000736" "g.150655474C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150958386C>A" "" "VUS" "" "0000078368" "1" "50" "7" "150655341" "150655341" "subst" "0" "01348" "KCNH2_000734" "g.150655341G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150958253G>A" "" "VUS" "" "0000078369" "1" "90" "7" "150655342" "150655342" "del" "0" "01348" "KCNH2_000733" "g.150655342del" "" "" "" "724delC" "" "Germline" "" "" "0" "" "" "g.150958254del" "" "pathogenic" "" "0000078370" "1" "90" "7" "150655325" "150655337" "del" "0" "01348" "KCNH2_000732" "g.150655325_150655337del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150958237_150958249del" "" "pathogenic" "" "0000078371" "1" "50" "7" "150655307" "150655309" "del" "0" "01348" "KCNH2_000731" "g.150655307_150655309del" "" "" "" "754_756delCGG" "" "Germline" "" "" "0" "" "" "g.150958219_150958221del" "" "VUS" "" "0000078372" "1" "90" "7" "150655290" "150655305" "del" "0" "01348" "KCNH2_000730" "g.150655290_150655305del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150958202_150958217del" "" "pathogenic" "" "0000078373" "1" "90" "7" "150655248" "150655248" "del" "0" "01348" "KCNH2_000729" "g.150655248del" "" "" "" "817delC" "" "Germline" "" "" "0" "" "" "g.150958160del" "" "pathogenic" "" "0000078374" "1" "50" "7" "150655174" "150655174" "subst" "0" "01348" "KCNH2_000727" "g.150655174G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150958086G>A" "" "VUS" "" "0000078375" "1" "90" "7" "150655175" "150655175" "delins" "0" "01348" "KCNH2_000728" "g.150655175delinsTT" "" "" "" "888delGinsAA" "" "Germline" "" "" "0" "" "" "g.150958087delinsTT" "" "pathogenic" "" "0000078376" "1" "50" "7" "150654585" "150654585" "subst" "0" "01348" "KCNH2_000726" "g.150654585T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150957497T>C" "" "VUS" "" "0000078377" "1" "90" "7" "150654558" "150654577" "del" "0" "01348" "KCNH2_000725" "g.150654558_150654577del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150957470_150957489del" "" "pathogenic" "" "0000078378" "1" "50" "7" "150654506" "150654506" "subst" "0" "01348" "KCNH2_000724" "g.150654506G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150957418G>A" "" "VUS" "" "0000078379" "1" "90" "7" "150654504" "150654504" "subst" "0" "01348" "KCNH2_000723" "g.150654504G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150957416G>A" "" "pathogenic" "" "0000078380" "1" "90" "7" "150654498" "150654499" "ins" "0" "01348" "KCNH2_000722" "g.150654498_150654499insA" "" "" "" "1007dupT" "" "Germline" "" "" "0" "" "" "g.150957410_150957411insA" "" "pathogenic" "" "0000078381" "1" "90" "7" "150654498" "150654499" "ins" "0" "01348" "KCNH2_000721" "g.150654498_150654499insA" "" "" "" "1008_1009insT" "" "Germline" "" "" "0" "" "" "g.150957410_150957411insA" "" "pathogenic" "" "0000078382" "1" "70" "7" "150654405" "150654416" "delins" "0" "01348" "KCNH2_000000" "g.150654405_150654416delinsCTTAGGTGCTATGACAATGTCTCAAGCTATGACAATGACATAGACTCAAGACA" "" "" "" "c.1091_1102delins(53)" "" "Germline" "" "" "0" "" "" "g.150957317_150957328delinsCTTAGGTGCTATGACAATGTCTCAAGCTATGACAATGACATAGACTCAAGACA" "" "likely pathogenic" "" "0000078383" "1" "70" "7" "150654405" "150654416" "delins" "0" "01348" "KCNH2_000875" "g.150654405_150654416delinsCTTAGGTGCTATGACAATGTCTCAAGCTATGACAATGACATAGACTCAAGACA" "" "" "" "1091_1102delAGGAGCGAACCCinsTGTCTTGAGTCTATGTCATTGTCATAGCTTGAGACATTGTCATAGCACCTAAG" "" "Germline" "" "" "0" "" "" "g.150957317_150957328delinsCTTAGGTGCTATGACAATGTCTCAAGCTATGACAATGACATAGACTCAAGACA" "" "likely pathogenic" "" "0000078384" "1" "90" "7" "150654411" "150654411" "subst" "0" "01348" "KCNH2_000720" "g.150654411G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150957323G>A" "" "pathogenic" "" "0000078385" "1" "70" "7" "150649942" "150649942" "subst" "0" "01348" "KCNH2_000719" "g.150649942C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952854C>T" "" "likely pathogenic" "" "0000078386" "1" "90" "7" "150648805" "150652489" "dup" "0" "01348" "KCNH2_000762" "g.150648805_150652489dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951717_150955401dup" "" "pathogenic" "" "0000078387" "1" "50" "7" "150649899" "150649899" "subst" "0" "01348" "KCNH2_000718" "g.150649899G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952811G>A" "" "VUS" "" "0000078388" "1" "50" "7" "150649877" "150649877" "subst" "0" "01348" "KCNH2_000717" "g.150649877C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952789C>T" "" "VUS" "" "0000078389" "1" "50" "7" "150649865" "150649865" "subst" "0" "01348" "KCNH2_000716" "g.150649865T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952777T>C" "" "VUS" "" "0000078390" "1" "50" "7" "150649793" "150649793" "subst" "0" "01348" "KCNH2_000715" "g.150649793G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952705G>T" "" "VUS" "" "0000078391" "1" "50" "7" "150649790" "150649790" "subst" "0" "01348" "KCNH2_000714" "g.150649790T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952702T>C" "" "VUS" "" "0000078392" "1" "50" "7" "150649787" "150649787" "subst" "1.62425E-5" "01348" "KCNH2_000746" "g.150649787G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952699G>A" "" "VUS" "" "0000078393" "1" "50" "7" "150649678" "150649695" "dup" "0" "01348" "KCNH2_000743" "g.150649678_150649695dup" "" "" "" "1384_1401dup ATGTTCATTGTGGACATC" "" "Germline" "" "" "0" "" "" "g.150952590_150952607dup" "" "VUS" "" "0000078394" "1" "50" "7" "150649681" "150649681" "subst" "0" "01348" "KCNH2_000745" "g.150649681G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952593G>T" "" "VUS" "" "0000078395" "1" "50" "7" "150649681" "150649681" "subst" "0" "01348" "KCNH2_000745" "g.150649681G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952593G>T" "" "VUS" "" "0000078396" "1" "90" "7" "150649710" "150649710" "del" "0" "01348" "KCNH2_000744" "g.150649710del" "" "" "" "1360delA" "" "Germline" "" "" "0" "" "" "g.150952622del" "" "pathogenic" "" "0000078397" "1" "90" "7" "150649669" "150649669" "dup" "0" "01348" "KCNH2_000742" "g.150649669dup" "" "" "" "1402_1403insC" "" "Germline" "" "" "0" "" "" "g.150952581dup" "" "pathogenic" "" "0000078398" "1" "90" "7" "150649620" "150649638" "dup" "0" "01348" "KCNH2_000741" "g.150649620_150649638dup" "" "" "" "1454_1455insACGAGGAGGTGGTCAGCCA, 1454_1455ins19" "" "Germline" "" "" "0" "" "" "g.150952532_150952550dup" "" "pathogenic" "" "0000078399" "1" "50" "7" "150649613" "150649613" "subst" "0" "01348" "KCNH2_000740" "g.150649613G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952525G>C" "" "VUS" "" "0000078400" "1" "50" "7" "150649596" "150649596" "subst" "8.12117E-6" "01348" "KCNH2_000739" "g.150649596G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952508G>A" "" "VUS" "" "0000078401" "1" "50" "7" "150649596" "150649596" "subst" "8.12117E-6" "01348" "KCNH2_000739" "g.150649596G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952508G>A" "" "VUS" "" "0000078402" "1" "50" "7" "150649579" "150649579" "subst" "0" "01348" "KCNH2_000769" "g.150649579C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952491C>T" "" "VUS" "" "0000078403" "1" "50" "7" "150649569" "150649569" "subst" "0" "01348" "KCNH2_000768" "g.150649569C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952481C>T" "" "VUS" "" "0000078404" "1" "50" "7" "150649569" "150649569" "subst" "0" "01348" "KCNH2_000768" "g.150649569C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952481C>T" "" "VUS" "" "0000078405" "1" "70" "7" "150649512" "150649512" "subst" "0" "01348" "KCNH2_000767" "g.150649512C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150952424C>T" "" "likely pathogenic" "" "0000078406" "1" "50" "7" "150648881" "150648881" "subst" "0" "01348" "KCNH2_000766" "g.150648881G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951793G>A" "" "VUS" "" "0000078407" "1" "50" "7" "150648881" "150648881" "subst" "0" "01348" "KCNH2_000766" "g.150648881G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951793G>A" "" "VUS" "" "0000078408" "1" "50" "7" "150648881" "150648881" "subst" "0" "01348" "KCNH2_000766" "g.150648881G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951793G>A" "" "VUS" "" "0000078409" "1" "50" "7" "150648824" "150648824" "subst" "0" "01348" "KCNH2_000765" "g.150648824G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951736G>C" "" "VUS" "" "0000078410" "1" "90" "7" "150648812" "150648812" "del" "0" "01348" "KCNH2_000764" "g.150648812del" "" "" "" "1671delT" "" "Germline" "" "" "0" "" "" "g.150951724del" "" "pathogenic" "" "0000078411" "1" "50" "7" "150648809" "150648809" "subst" "0" "01348" "KCNH2_000763" "g.150648809C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951721C>G" "" "VUS" "" "0000078412" "1" "50" "7" "150648800" "150648800" "subst" "0" "01348" "KCNH2_000761" "g.150648800C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951712C>T" "" "VUS" "" "0000078413" "1" "50" "7" "150648799" "150648799" "subst" "0" "01348" "KCNH2_000021" "g.150648799G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951711G>A" "" "VUS" "" "0000078414" "1" "50" "7" "150648796" "150648796" "subst" "0" "01348" "KCNH2_000760" "g.150648796T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951708T>C" "" "VUS" "" "0000078415" "1" "50" "7" "150648796" "150648796" "subst" "0" "01348" "KCNH2_000760" "g.150648796T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951708T>C" "" "VUS" "" "0000078416" "1" "50" "7" "150648796" "150648796" "subst" "0" "01348" "KCNH2_000760" "g.150648796T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951708T>C" "" "VUS" "" "0000078417" "1" "90" "7" "150648792" "150648792" "subst" "0" "01348" "KCNH2_000846" "g.150648792C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951704C>T" "" "pathogenic" "" "0000078418" "1" "50" "7" "150648794" "150648794" "subst" "0" "01348" "KCNH2_000848" "g.150648794A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951706A>C" "" "VUS" "" "0000078419" "1" "50" "7" "150648792" "150648792" "subst" "0" "01348" "KCNH2_000847" "g.150648792C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951704C>A" "" "VUS" "" "0000078420" "1" "50" "7" "150648788" "150648788" "subst" "0" "01348" "KCNH2_000845" "g.150648788C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951700C>A" "" "VUS" "" "0000078421" "1" "50" "7" "150648785" "150648785" "subst" "0" "01348" "KCNH2_000844" "g.150648785A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951697A>T" "" "VUS" "" "0000078422" "1" "90" "7" "150648777" "150648777" "subst" "0" "01348" "KCNH2_000843" "g.150648777C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951689C>T" "" "pathogenic" "" "0000078423" "1" "50" "7" "150648775" "150648775" "subst" "0" "01348" "KCNH2_000842" "g.150648775T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951687T>C" "" "VUS" "" "0000078424" "1" "50" "7" "150648767" "150648767" "subst" "0" "01348" "KCNH2_000674" "g.150648767C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951679C>T" "" "VUS" "" "0000078425" "1" "50" "7" "150648767" "150648767" "subst" "0" "01348" "KCNH2_000674" "g.150648767C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951679C>T" "" "VUS" "" "0000078426" "1" "50" "7" "150648767" "150648767" "subst" "0" "01348" "KCNH2_000674" "g.150648767C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951679C>T" "" "VUS" "" "0000078427" "1" "50" "7" "150648767" "150648767" "subst" "0" "01348" "KCNH2_000674" "g.150648767C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951679C>T" "" "VUS" "" "0000078428" "1" "50" "7" "150648766" "150648766" "subst" "0" "01348" "KCNH2_000673" "g.150648766C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951678C>T" "" "VUS" "" "0000078429" "1" "50" "7" "150648767" "150648767" "subst" "0" "01348" "KCNH2_000841" "g.150648767C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951679C>A" "" "VUS" "" "0000078430" "1" "50" "7" "150648761" "150648761" "subst" "0" "01348" "KCNH2_000672" "g.150648761T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951673T>C" "" "VUS" "" "0000078431" "1" "90" "7" "150648758" "150648758" "subst" "0" "01348" "KCNH2_000671" "g.150648758C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951670C>A" "" "pathogenic" "" "0000078432" "1" "50" "7" "150648735" "150648749" "del" "0" "01348" "KCNH2_000667" "g.150648735_150648749del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951647_150951661del" "" "VUS" "" "0000078433" "1" "50" "7" "150648745" "150648745" "subst" "0" "01348" "KCNH2_000670" "g.150648745A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951657A>G" "" "VUS" "" "0000078434" "1" "50" "7" "150648745" "150648745" "subst" "0" "01348" "KCNH2_000670" "g.150648745A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951657A>G" "" "VUS" "" "0000078435" "1" "50" "7" "150648737" "150648737" "subst" "0" "01348" "KCNH2_000669" "g.150648737G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951649G>A" "" "VUS" "" "0000078436" "1" "50" "7" "150648737" "150648737" "subst" "0" "01348" "KCNH2_000669" "g.150648737G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951649G>A" "" "VUS" "" "0000078437" "1" "50" "7" "150648737" "150648737" "subst" "0" "01348" "KCNH2_000669" "g.150648737G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951649G>A" "" "VUS" "" "0000078438" "1" "50" "7" "150648737" "150648737" "subst" "0" "01348" "KCNH2_000669" "g.150648737G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951649G>A" "" "VUS" "" "0000078439" "1" "50" "7" "150648737" "150648737" "subst" "0" "01348" "KCNH2_000669" "g.150648737G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951649G>A" "" "VUS" "" "0000078440" "1" "50" "7" "150648737" "150648737" "subst" "0" "01348" "KCNH2_000669" "g.150648737G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951649G>A" "" "VUS" "" "0000078441" "1" "50" "7" "150648736" "150648736" "subst" "0" "01348" "KCNH2_000668" "g.150648736C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951648C>A" "" "VUS" "" "0000078442" "1" "50" "7" "150648736" "150648736" "subst" "0" "01348" "KCNH2_000668" "g.150648736C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951648C>A" "" "VUS" "" "0000078443" "1" "50" "7" "150648731" "150648731" "subst" "8.12295E-6" "01348" "KCNH2_000665" "g.150648731C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951643C>T" "" "VUS" "" "0000078444" "1" "50" "7" "150648730" "150648730" "subst" "0" "01348" "KCNH2_000664" "g.150648730C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951642C>A" "" "VUS" "" "0000078445" "1" "50" "7" "150648731" "150648731" "subst" "0" "01348" "KCNH2_000666" "g.150648731C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951643C>A" "" "VUS" "" "0000078446" "1" "50" "7" "150648715" "150648715" "subst" "0" "01348" "KCNH2_000663" "g.150648715A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951627A>G" "" "VUS" "" "0000078447" "1" "50" "7" "150648712" "150648712" "subst" "0" "01348" "KCNH2_000662" "g.150648712C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951624C>A" "" "VUS" "" "0000078448" "1" "90" "7" "150648706" "150648706" "del" "0" "01348" "KCNH2_000661" "g.150648706del" "" "" "" "1775delA" "" "Germline" "" "" "0" "" "" "g.150951618del" "" "pathogenic" "" "0000078449" "1" "50" "7" "150648703" "150648703" "subst" "0" "01348" "KCNH2_000659" "g.150648703A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951615A>G" "" "VUS" "" "0000078450" "1" "50" "7" "150648703" "150648703" "subst" "0" "01348" "KCNH2_000660" "g.150648703A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951615A>C" "" "VUS" "" "0000078451" "1" "50" "7" "150648698" "150648698" "subst" "0" "01348" "KCNH2_000840" "g.150648698T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951610T>C" "" "VUS" "" "0000078452" "1" "50" "7" "150648698" "150648698" "subst" "0" "01348" "KCNH2_000840" "g.150648698T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951610T>C" "" "VUS" "" "0000078453" "1" "50" "7" "150648696" "150648696" "subst" "0" "01348" "KCNH2_000839" "g.150648696T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951608T>A" "" "VUS" "" "0000078454" "1" "50" "7" "150648691" "150648691" "subst" "0" "01348" "KCNH2_000838" "g.150648691T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951603T>C" "" "VUS" "" "0000078455" "1" "50" "7" "150648680" "150648680" "subst" "0" "01348" "KCNH2_000837" "g.150648680C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951592C>T" "" "VUS" "" "0000078456" "1" "50" "7" "150648680" "150648680" "subst" "0" "01348" "KCNH2_000837" "g.150648680C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951592C>T" "" "VUS" "" "0000078457" "1" "50" "7" "150648680" "150648680" "subst" "0" "01348" "KCNH2_000837" "g.150648680C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951592C>T" "" "VUS" "" "0000078458" "1" "50" "7" "150648680" "150648680" "subst" "0" "01348" "KCNH2_000837" "g.150648680C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951592C>T" "" "VUS" "" "0000078459" "1" "50" "7" "150648673" "150648673" "subst" "0" "01348" "KCNH2_000836" "g.150648673C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951585C>T" "" "VUS" "" "0000078460" "1" "50" "7" "150648671" "150648671" "subst" "0" "01348" "KCNH2_000835" "g.150648671C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951583C>T" "" "VUS" "" "0000078461" "1" "50" "7" "150648671" "150648671" "subst" "0" "01348" "KCNH2_000835" "g.150648671C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951583C>T" "" "VUS" "" "0000078462" "1" "50" "7" "150648671" "150648671" "subst" "0" "01348" "KCNH2_000835" "g.150648671C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951583C>T" "" "VUS" "" "0000078463" "1" "50" "7" "150648671" "150648671" "subst" "0" "01348" "KCNH2_000835" "g.150648671C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951583C>T" "" "VUS" "" "0000078464" "1" "50" "7" "150648656" "150648656" "subst" "0" "01348" "KCNH2_000871" "g.150648656C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951568C>T" "" "VUS" "" "0000078465" "1" "90" "7" "150648648" "150648648" "subst" "0" "01348" "KCNH2_000870" "g.150648648A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951560A>C" "" "pathogenic" "" "0000078466" "1" "50" "7" "150648643" "150648643" "subst" "0" "01348" "KCNH2_000017" "g.150648643G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951555G>A" "" "VUS" "" "0000078467" "1" "50" "7" "150648643" "150648643" "subst" "0" "01348" "KCNH2_000017" "g.150648643G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951555G>A" "" "VUS" "" "0000078468" "1" "50" "7" "150648643" "150648643" "subst" "0" "01348" "KCNH2_000017" "g.150648643G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951555G>A" "" "VUS" "" "0000078469" "1" "50" "7" "150648643" "150648643" "subst" "0" "01348" "KCNH2_000017" "g.150648643G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951555G>A" "" "VUS" "" "0000078470" "1" "50" "7" "150648643" "150648643" "subst" "0" "01348" "KCNH2_000017" "g.150648643G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951555G>A" "" "VUS" "" "0000078471" "1" "50" "7" "150648643" "150648643" "subst" "0" "01348" "KCNH2_000869" "g.150648643G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951555G>T" "" "VUS" "" "0000078472" "1" "50" "7" "150648640" "150648640" "subst" "0" "01348" "KCNH2_000834" "g.150648640G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951552G>A" "" "VUS" "" "0000078473" "1" "50" "7" "150648640" "150648640" "subst" "0" "01348" "KCNH2_000834" "g.150648640G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951552G>A" "" "VUS" "" "0000078474" "1" "50" "7" "150648640" "150648640" "subst" "0" "01348" "KCNH2_000834" "g.150648640G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951552G>A" "" "VUS" "" "0000078475" "1" "50" "7" "150648640" "150648640" "subst" "0" "01348" "KCNH2_000834" "g.150648640G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951552G>A" "" "VUS" "" "0000078476" "1" "50" "7" "150648638" "150648638" "subst" "0" "01348" "KCNH2_000833" "g.150648638G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951550G>A" "" "VUS" "" "0000078477" "1" "50" "7" "150648628" "150648628" "subst" "0" "01348" "KCNH2_000832" "g.150648628G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951540G>C" "" "VUS" "" "0000078478" "1" "50" "7" "150648619" "150648619" "subst" "0" "01348" "KCNH2_000830" "g.150648619C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951531C>T" "" "VUS" "" "0000078479" "1" "50" "7" "150648620" "150648620" "subst" "0" "01348" "KCNH2_000831" "g.150648620T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951532T>G" "" "VUS" "" "0000078480" "1" "50" "7" "150648617" "150648617" "subst" "0" "01348" "KCNH2_000829" "g.150648617G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951529G>A" "" "VUS" "" "0000078481" "1" "50" "7" "150648614" "150648614" "subst" "0" "01348" "KCNH2_000828" "g.150648614T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951526T>C" "" "VUS" "" "0000078482" "1" "50" "7" "150648613" "150648613" "subst" "0" "01348" "KCNH2_000827" "g.150648613G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951525G>A" "" "VUS" "" "0000078483" "1" "50" "7" "150648607" "150648607" "subst" "0" "01348" "KCNH2_000826" "g.150648607A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951519A>T" "" "VUS" "" "0000078484" "1" "70" "7" "150655417" "150655435" "dup" "0" "01348" "KCNH2_000735" "g.150655417_150655435dup" "" "" "" "626_627insCCT;629_647dup" "" "Germline" "" "" "0" "" "" "g.150958329_150958347dup" "" "likely pathogenic" "" "0000078485" "1" "50" "7" "150648599" "150648599" "subst" "0" "01348" "KCNH2_000825" "g.150648599C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951511C>T" "" "VUS" "" "0000078486" "1" "50" "7" "150648595" "150648595" "subst" "0" "01348" "KCNH2_000824" "g.150648595T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951507T>C" "" "VUS" "" "0000078487" "1" "50" "7" "150648583" "150648583" "subst" "0" "01348" "KCNH2_000823" "g.150648583T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951495T>C" "" "VUS" "" "0000078488" "1" "50" "7" "150648583" "150648583" "subst" "0" "01348" "KCNH2_000823" "g.150648583T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951495T>C" "" "VUS" "" "0000078489" "1" "50" "7" "150648583" "150648583" "subst" "0" "01348" "KCNH2_000823" "g.150648583T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951495T>C" "" "VUS" "" "0000078490" "1" "50" "7" "150648581" "150648581" "subst" "0" "01348" "KCNH2_000822" "g.150648581T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951493T>C" "" "VUS" "" "0000078491" "1" "50" "7" "150648569" "150648569" "subst" "0" "01348" "KCNH2_000820" "g.150648569T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951481T>C" "" "VUS" "" "0000078492" "1" "50" "7" "150648569" "150648569" "subst" "0" "01348" "KCNH2_000821" "g.150648569T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951481T>G" "" "VUS" "" "0000078493" "1" "50" "7" "150648569" "150648571" "del" "0" "01348" "KCNH2_000819" "g.150648569_150648571del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951481_150951483del" "" "VUS" "" "0000078494" "1" "50" "7" "150648563" "150648565" "del" "0" "01348" "KCNH2_000818" "g.150648563_150648565del" "" "" "" "1919_1921delTCT" "" "Germline" "" "" "0" "" "" "g.150951475_150951477del" "" "VUS" "" "0000078495" "1" "50" "7" "150648559" "150648559" "subst" "0" "01348" "KCNH2_000817" "g.150648559G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951471G>A" "" "VUS" "" "0000078496" "1" "50" "7" "150648551" "150648551" "subst" "0" "01348" "KCNH2_000816" "g.150648551C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951463C>A" "" "VUS" "" "0000078497" "1" "50" "7" "150648548" "150648548" "subst" "0" "01348" "KCNH2_000815" "g.150648548T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951460T>G" "" "VUS" "" "0000078498" "1" "50" "7" "150648536" "150648536" "subst" "0" "01348" "KCNH2_000868" "g.150648536A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951448A>G" "" "VUS" "" "0000078499" "1" "90" "7" "150648202" "150648203" "del" "0" "01348" "KCNH2_000867" "g.150648202_150648203del" "" "" "" "1951_1952delAT" "" "Germline" "" "" "0" "" "" "g.150951114_150951115del" "" "pathogenic" "" "0000078500" "1" "90" "7" "150648164" "150648164" "subst" "0" "01348" "KCNH2_000866" "g.150648164G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951076G>A" "" "pathogenic" "" "0000078501" "1" "90" "7" "150648151" "150648151" "subst" "0" "01348" "KCNH2_000865" "g.150648151G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951063G>T" "" "pathogenic" "" "0000078502" "1" "90" "7" "150648135" "150648135" "subst" "0" "01348" "KCNH2_000863" "g.150648135G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951047G>C" "" "pathogenic" "" "0000078503" "1" "90" "7" "150648126" "150648127" "del" "0" "01348" "KCNH2_000861" "g.150648126_150648127del" "" "" "" "2027_2028delAG" "" "Germline" "" "" "0" "" "" "g.150951038_150951039del" "" "pathogenic" "" "0000078504" "1" "90" "7" "150648128" "150648128" "subst" "0" "01348" "KCNH2_000862" "g.150648128G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951040G>A" "" "pathogenic" "" "0000078505" "1" "90" "7" "150648092" "150648092" "subst" "0" "01348" "KCNH2_000860" "g.150648092G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150951004G>A" "" "pathogenic" "" "0000078506" "1" "90" "7" "150648062" "150648062" "subst" "0" "01348" "KCNH2_000859" "g.150648062C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950974C>A" "" "pathogenic" "" "0000078507" "1" "90" "7" "150648062" "150648062" "subst" "0" "01348" "KCNH2_000859" "g.150648062C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950974C>A" "" "pathogenic" "" "0000078508" "1" "90" "7" "150648062" "150648062" "subst" "0" "01348" "KCNH2_000859" "g.150648062C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950974C>A" "" "pathogenic" "" "0000078509" "1" "50" "7" "150648020" "150648020" "subst" "0" "01348" "KCNH2_000858" "g.150648020C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950932C>T" "" "VUS" "" "0000078510" "1" "50" "7" "150648009" "150648009" "subst" "0" "01348" "KCNH2_000857" "g.150648009C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950921C>G" "" "VUS" "" "0000078511" "1" "70" "7" "150647510" "150647510" "subst" "0" "01348" "KCNH2_000856" "g.150647510T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950422T>C" "" "likely pathogenic" "" "0000078512" "1" "70" "7" "150647510" "150647510" "subst" "0" "01348" "KCNH2_000856" "g.150647510T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950422T>C" "" "likely pathogenic" "" "0000078513" "1" "50" "7" "150647492" "150647492" "subst" "0" "01348" "KCNH2_000854" "g.150647492G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950404G>A" "" "VUS" "" "0000078514" "1" "50" "7" "150647492" "150647492" "subst" "0" "01348" "KCNH2_000855" "g.150647492G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950404G>C" "" "VUS" "" "0000078515" "1" "90" "7" "150647484" "150647485" "dup" "0" "01348" "KCNH2_000853" "g.150647484_150647485dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950396_150950397dup" "" "pathogenic" "" "0000078516" "1" "50" "7" "150647462" "150647462" "subst" "0" "01348" "KCNH2_000852" "g.150647462T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950374T>G" "" "VUS" "" "0000078517" "1" "50" "7" "150647459" "150647459" "subst" "0" "01348" "KCNH2_000814" "g.150647459A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950371A>G" "" "VUS" "" "0000078518" "1" "90" "7" "150647442" "150647442" "subst" "0" "01348" "KCNH2_000813" "g.150647442G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950354G>A" "" "pathogenic" "" "0000078519" "1" "50" "7" "150647423" "150647423" "subst" "0" "01348" "KCNH2_000812" "g.150647423C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950335C>G" "" "VUS" "" "0000078520" "1" "50" "7" "150647399" "150647399" "subst" "0" "01348" "KCNH2_000810" "g.150647399C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950311C>G" "" "VUS" "" "0000078521" "1" "50" "7" "150647400" "150647400" "subst" "0" "01348" "KCNH2_000811" "g.150647400G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950312G>A" "" "VUS" "" "0000078522" "1" "50" "7" "150647307" "150647307" "subst" "0" "01348" "KCNH2_000809" "g.150647307A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950219A>G" "" "VUS" "" "0000078523" "1" "90" "7" "150647303" "150647303" "del" "0" "01348" "KCNH2_000807" "g.150647303del" "" "" "" "2354delG" "" "Germline" "" "" "0" "" "" "g.150950215del" "" "pathogenic" "" "0000078524" "1" "50" "7" "150647301" "150647301" "subst" "0" "01348" "KCNH2_000808" "g.150647301C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950213C>T" "" "VUS" "" "0000078525" "1" "70" "7" "150646139" "150646139" "subst" "0" "01348" "KCNH2_000805" "g.150646139T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150949051T>C" "" "likely pathogenic" "" "0000078526" "1" "70" "7" "150646134" "150646134" "subst" "0" "01348" "KCNH2_000804" "g.150646134C>T" "" "" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.150949046C>T" "" "likely pathogenic" "" "0000078527" "1" "50" "7" "150647256" "150647256" "subst" "0" "01348" "KCNH2_000806" "g.150647256C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150950168C>G" "" "VUS" "" "0000078528" "1" "90" "7" "150646100" "150646100" "dup" "0" "01348" "KCNH2_000803" "g.150646100dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150949012dup" "" "pathogenic" "" "0000078529" "1" "50" "7" "150646083" "150646083" "subst" "4.06098E-6" "01348" "KCNH2_000802" "g.150646083G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948995G>A" "" "VUS" "" "0000078530" "1" "50" "7" "150646083" "150646083" "subst" "4.06098E-6" "01348" "KCNH2_000802" "g.150646083G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948995G>A" "" "VUS" "" "0000078531" "1" "50" "7" "150646083" "150646083" "subst" "4.06098E-6" "01348" "KCNH2_000802" "g.150646083G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948995G>A" "" "VUS" "" "0000078532" "1" "50" "7" "150646068" "150646068" "subst" "0" "01348" "KCNH2_000692" "g.150646068C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948980C>T" "" "VUS" "" "0000078533" "1" "50" "7" "150646069" "150646069" "subst" "4.06095E-6" "01348" "KCNH2_000800" "g.150646069G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948981G>A" "" "VUS" "" "0000078534" "1" "50" "7" "150646072" "150646072" "subst" "0" "01348" "KCNH2_000801" "g.150646072C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948984C>T" "" "VUS" "" "0000078535" "1" "50" "7" "150646044" "150646044" "subst" "0" "01348" "KCNH2_000691" "g.150646044T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948956T>G" "" "VUS" "" "0000078536" "1" "50" "7" "150646027" "150646027" "subst" "0" "01348" "KCNH2_000690" "g.150646027C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948939C>T" "" "VUS" "" "0000078537" "1" "50" "7" "150646027" "150646027" "subst" "0" "01348" "KCNH2_000690" "g.150646027C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948939C>T" "" "VUS" "" "0000078538" "1" "50" "7" "150646027" "150646027" "subst" "0" "01348" "KCNH2_000690" "g.150646027C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948939C>T" "" "VUS" "" "0000078539" "1" "50" "7" "150646001" "150646004" "delins" "0" "01348" "KCNH2_000689" "g.150646001_150646004delinsTTAA" "" "" "" "" "" "Germline" "" "" "0" "itohhideki" "" "g.150948913_150948916delinsTTAA" "" "VUS" "" "0000078540" "1" "90" "7" "150645978" "150645978" "del" "0" "01348" "KCNH2_000688" "g.150645978del" "" "" "" "2559delG" "" "Germline" "" "" "0" "" "" "g.150948890del" "" "pathogenic" "" "0000078541" "1" "90" "7" "150645949" "150645949" "subst" "4.06332E-6" "01348" "KCNH2_000687" "g.150645949G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948861G>A" "" "pathogenic" "" "0000078542" "1" "90" "7" "150645949" "150645949" "subst" "4.06332E-6" "01348" "KCNH2_000687" "g.150645949G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948861G>A" "" "pathogenic" "" "0000078543" "1" "50" "7" "150645630" "150645630" "subst" "0" "01348" "KCNH2_000686" "g.150645630G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948542G>A" "" "VUS" "" "0000078544" "1" "90" "7" "150645625" "150645631" "del" "0" "01348" "KCNH2_000685" "g.150645625_150645631del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948537_150948543del" "" "pathogenic" "" "0000078545" "1" "90" "7" "150648150" "150648150" "del" "0" "01348" "KCNH2_000864" "g.150648150del" "" "" "" "2606delC" "" "Germline" "" "" "0" "" "" "g.150951062del" "" "pathogenic" "" "0000078546" "1" "90" "7" "150645555" "150645611" "delins" "0" "01348" "KCNH2_000681" "g.150645555_150645611delinsCAGGCGT" "" "" "" "2613_2669delinsACGCCTG" "" "Germline" "" "" "0" "" "" "g.150948467_150948523delinsCAGGCGT" "" "pathogenic" "" "0000078547" "1" "90" "7" "150645612" "150645612" "del" "0" "01348" "KCNH2_000684" "g.150645612del" "" "" "" "2616delC" "" "Germline" "" "" "0" "" "" "g.150948524del" "" "pathogenic" "" "0000078548" "1" "90" "7" "150645612" "150645612" "del" "0" "01348" "KCNH2_000684" "g.150645612del" "" "" "" "2616delC" "" "Germline" "" "" "0" "" "" "g.150948524del" "" "pathogenic" "" "0000078549" "1" "50" "7" "150645576" "150645576" "subst" "2.86062E-5" "01348" "KCNH2_000683" "g.150645576C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948488C>T" "" "VUS" "" "0000078550" "1" "90" "7" "150645565" "150645577" "del" "0" "01348" "KCNH2_000682" "g.150645565_150645577del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948477_150948489del" "" "pathogenic" "" "0000078551" "1" "90" "7" "150644928" "150644929" "dup" "0" "01348" "KCNH2_000680" "g.150644928_150644929dup" "" "" "" "2731_2732dupGG" "" "Germline" "" "" "0" "" "" "g.150947840_150947841dup" "" "pathogenic" "" "0000078552" "1" "90" "7" "150644930" "150644934" "dup" "0" "01348" "KCNH2_000678" "g.150644930_150644934dup" "" "" "" "2733_2737dupCCGGG" "" "Germline" "" "" "0" "" "" "g.150947842_150947846dup" "" "pathogenic" "" "0000078553" "1" "90" "7" "150644930" "150644934" "del" "0" "01348" "KCNH2_000679" "g.150644930_150644934del" "" "" "" "2734_2738delCGGGC" "" "Germline" "" "" "0" "" "" "g.150947842_150947846del" "" "pathogenic" "" "0000078554" "1" "90" "7" "150644930" "150644934" "del" "0" "01348" "KCNH2_000679" "g.150644930_150644934del" "" "" "" "2734_2738delCGGGC" "" "Germline" "" "" "0" "" "" "g.150947842_150947846del" "" "pathogenic" "" "0000078555" "1" "90" "7" "150644930" "150644934" "dup" "0" "01348" "KCNH2_000678" "g.150644930_150644934dup" "" "" "" "2737_2738insCCGGG" "" "Germline" "" "" "0" "" "" "g.150947842_150947846dup" "" "pathogenic" "" "0000078556" "1" "90" "7" "150644884" "150644885" "delins" "0" "01348" "KCNH2_000677" "g.150644884_150644885delinsA" "" "" "" "2774_2775delGGinsT" "" "Germline" "" "" "0" "" "" "g.150947796_150947797delinsA" "" "pathogenic" "" "0000078557" "1" "90" "7" "150644890" "150644890" "del" "0" "01348" "KCNH2_000675" "g.150644890del" "" "" "" "2775delG" "" "Germline" "" "" "0" "" "" "g.150947802del" "" "pathogenic" "" "0000078558" "1" "90" "7" "150644890" "150644890" "dup" "0" "01348" "KCNH2_000676" "g.150644890dup" "" "" "" "2774dupG" "" "Germline" "" "" "0" "" "" "g.150947802dup" "" "pathogenic" "" "0000078559" "1" "90" "7" "150644890" "150644890" "dup" "0" "01348" "KCNH2_000676" "g.150644890dup" "" "" "" "2774dupG" "" "Germline" "" "" "0" "" "" "g.150947802dup" "" "pathogenic" "" "0000078560" "1" "90" "7" "150644879" "150644879" "subst" "0" "01348" "KCNH2_000799" "g.150644879C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947791C>T" "" "pathogenic" "" "0000078561" "1" "90" "7" "150644879" "150644879" "subst" "0" "01348" "KCNH2_000799" "g.150644879C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947791C>T" "" "pathogenic" "" "0000078562" "1" "50" "7" "150644816" "150644816" "subst" "3.72509E-5" "01348" "KCNH2_000798" "g.150644816C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947728C>T" "" "VUS" "" "0000078563" "1" "90" "7" "150644772" "150644772" "dup" "0" "01348" "KCNH2_000797" "g.150644772dup" "" "" "" "2892dupC" "" "Germline" "" "" "0" "" "" "g.150947684dup" "" "pathogenic" "" "0000078564" "1" "90" "7" "150644741" "150644741" "del" "0" "01348" "KCNH2_000796" "g.150644741del" "" "" "" "2918delT" "" "Germline" "" "" "0" "" "" "g.150947653del" "" "pathogenic" "" "0000078565" "1" "90" "7" "150644727" "150644727" "subst" "0" "01348" "KCNH2_000713" "g.150644727C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947639C>A" "" "pathogenic" "" "0000078566" "1" "90" "7" "150644717" "150644717" "del" "0" "01348" "KCNH2_000712" "g.150644717del" "" "" "" "2942delG" "" "Germline" "" "" "0" "" "" "g.150947629del" "" "pathogenic" "" "0000078567" "1" "90" "7" "150644699" "150644700" "del" "4.14852E-6" "01348" "KCNH2_000711" "g.150644699_150644700del" "" "" "" "2959_2960delCT" "" "Germline" "" "" "0" "" "" "g.150947611_150947612del" "" "pathogenic" "" "0000078568" "1" "90" "7" "150644699" "150644700" "del" "4.14852E-6" "01348" "KCNH2_000711" "g.150644699_150644700del" "" "" "" "2959_2960delCT" "" "Germline" "" "" "0" "" "" "g.150947611_150947612del" "" "pathogenic" "" "0000078569" "1" "70" "7" "150644605" "150644605" "subst" "0" "01348" "KCNH2_000710" "g.150644605G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947517G>C" "" "likely pathogenic" "" "0000078570" "1" "70" "7" "150644605" "150644605" "subst" "0" "01348" "KCNH2_000710" "g.150644605G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947517G>C" "" "likely pathogenic" "" "0000078571" "1" "70" "7" "150644605" "150644605" "subst" "0" "01348" "KCNH2_000710" "g.150644605G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947517G>C" "" "likely pathogenic" "" "0000078572" "1" "50" "7" "150644581" "150644581" "subst" "0" "01348" "KCNH2_000709" "g.150644581T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947493T>A" "" "VUS" "" "0000078573" "1" "90" "7" "150644578" "150644578" "del" "0" "01348" "KCNH2_000708" "g.150644578del" "" "" "" "2993delT" "" "Germline" "" "" "0" "" "" "g.150947490del" "" "pathogenic" "" "0000078574" "1" "90" "7" "150644566" "150644566" "subst" "0" "01348" "KCNH2_000707" "g.150644566C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947478C>T" "" "pathogenic" "" "0000078575" "1" "90" "7" "150644566" "150644566" "del" "0" "01348" "KCNH2_000705" "g.150644566del" "" "" "" "3007delG" "" "Germline" "" "" "0" "" "" "g.150947478del" "" "pathogenic" "" "0000078576" "1" "90" "7" "150644468" "150644468" "del" "0" "01348" "KCNH2_000706" "g.150644468del" "" "" "" "3007dupG" "" "Germline" "" "" "0" "" "" "g.150947380del" "" "pathogenic" "" "0000078577" "1" "90" "7" "150644520" "150644532" "del" "0" "01348" "KCNH2_000703" "g.150644520_150644532del" "" "" "" "3036_3048del" "" "Germline" "" "" "0" "" "" "g.150947432_150947444del" "" "pathogenic" "" "0000078578" "1" "90" "7" "150644528" "150644528" "subst" "0" "01348" "KCNH2_000704" "g.150644528G>A" "" "" "" "3040C>T" "" "Germline" "" "" "0" "" "" "g.150947440G>A" "" "pathogenic" "" "0000078579" "1" "90" "7" "150644512" "150644512" "dup" "0" "01348" "KCNH2_000702" "g.150644512dup" "" "" "" "3060dupC" "" "Germline" "" "" "0" "" "" "g.150947424dup" "" "pathogenic" "" "0000078580" "1" "90" "7" "150644470" "150644482" "del" "0" "01348" "KCNH2_000698" "g.150644470_150644482del" "" "" "" "3090_3102delGGGTCGGCGGCCC" "" "Germline" "" "" "0" "" "" "g.150947382_150947394del" "" "pathogenic" "" "0000078581" "1" "90" "7" "150644467" "150644477" "del" "0" "01348" "KCNH2_000699" "g.150644467_150644477del" "" "" "" "3091_3101delGGTCGGCGGCC" "" "Germline" "" "" "0" "" "" "g.150947379_150947389del" "" "pathogenic" "" "0000078582" "1" "90" "7" "150644478" "150644478" "dup" "0" "01348" "KCNH2_000701" "g.150644478dup" "" "" "" "3092dupG" "" "Germline" "" "" "0" "" "" "g.150947390dup" "" "pathogenic" "" "0000078583" "1" "90" "7" "150644478" "150644478" "dup" "0" "01348" "KCNH2_000701" "g.150644478dup" "" "" "" "3092dupG" "" "Germline" "" "" "0" "" "" "g.150947390dup" "" "pathogenic" "" "0000078584" "1" "90" "7" "150644457" "150644476" "del" "0" "01348" "KCNH2_000795" "g.150644457_150644476del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947369_150947388del" "" "pathogenic" "" "0000078585" "1" "90" "7" "150644461" "150644474" "del" "0" "01348" "KCNH2_000693" "g.150644461_150644474del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947373_150947386del" "" "pathogenic" "" "0000078586" "1" "90" "7" "150644468" "150644481" "del" "0" "01348" "KCNH2_000696" "g.150644468_150644481del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947380_150947393del" "" "pathogenic" "" "0000078587" "1" "90" "7" "150644473" "150644474" "ins" "0" "01348" "KCNH2_000700" "g.150644473_150644474insCGCCC" "" "" "" "3095_3096insGGCGG" "" "Germline" "" "" "0" "" "" "g.150947385_150947386insCGCCC" "" "pathogenic" "" "0000078588" "1" "90" "7" "150644443" "150644465" "del" "0" "01348" "KCNH2_000793" "g.150644443_150644465del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947355_150947377del" "" "pathogenic" "" "0000078589" "1" "90" "7" "150644463" "150644464" "ins" "0" "01348" "KCNH2_000697" "g.150644463_150644464insGG" "" "" "" "3104_3105insCC" "" "Germline" "" "" "0" "" "" "g.150947375_150947376insGG" "" "pathogenic" "" "0000078590" "1" "50" "7" "150644461" "150644461" "subst" "7.86523E-5" "01348" "KCNH2_000694" "g.150644461C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150947373C>T" "" "VUS" "" "0000078591" "1" "90" "7" "150644464" "150644464" "dup" "0" "01348" "KCNH2_000695" "g.150644464dup" "" "" "" "3107dupG" "" "Germline" "" "" "0" "" "" "g.150947376dup" "" "pathogenic" "" "0000078592" "1" "90" "7" "150644455" "150644455" "delins" "0" "01348" "KCNH2_000794" "g.150644455delins150644463_150644477" "" "" "" "" "Variant Error [ESYNTAX]: This genomic variant has an error (char 31: expected EOF). Please fix this entry and then remove this message." "Germline" "" "" "0" "itohhideki" "" "" "" "pathogenic" "" "0000078593" "1" "90" "7" "150644097" "150644106" "del" "0" "01348" "KCNH2_000851" "g.150644097_150644106del" "" "" "" "3190_3199delCTGCAGCTGC" "" "Germline" "" "" "0" "" "" "g.150947009_150947018del" "" "pathogenic" "" "0000078594" "1" "90" "7" "150644035" "150644045" "del" "0" "01348" "KCNH2_000850" "g.150644035_150644045del" "" "" "" "3252_3262delGGGGCCTGGCC" "" "Germline" "" "" "0" "" "" "g.150946947_150946957del" "" "pathogenic" "" "0000078595" "1" "50" "7" "150644017" "150644017" "subst" "3.77384E-5" "01348" "KCNH2_000872" "g.150644017G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150946929G>A" "" "VUS" "" "0000078596" "1" "70" "7" "150643964" "150643964" "subst" "0" "01348" "KCNH2_000874" "g.150643964C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150946876C>T" "" "likely pathogenic" "" "0000078597" "1" "50" "7" "150642503" "150642503" "subst" "0" "01348" "KCNH2_000873" "g.150642503C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150945415C>T" "" "VUS" "" "0000095503" "0" "50" "7" "150647353" "150647354" "del" "0" "00006" "KCNH2_000878" "g.150647353_150647354del" "" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001204798:c.1280_1281del (427_427del)" "" "Germline" "" "" "0" "" "" "g.150950265_150950266del" "" "VUS" "" "0000095523" "0" "50" "7" "150647144" "150647144" "subst" "1.24485E-5" "00006" "KCNH2_000879" "g.150647144C>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001204798:c.G1490T (G497V)" "" "Germline" "" "" "0" "" "" "g.150950056C>A" "" "VUS" "" "0000095647" "0" "50" "7" "150644131" "150644131" "subst" "7.52401E-5" "00006" "KCNH2_000103" "g.150644131C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_172057.c.G2144A (R715Q)" "" "Germline" "" "" "0" "" "" "g.150947043C>T" "" "VUS" "" "0000096480" "0" "70" "7" "150656690" "150656690" "subst" "0.00121245" "01601" "KCNH2_000877" "g.150656690G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150959602G>A" "" "likely pathogenic" "" "0000096487" "0" "70" "7" "150655537" "150655537" "subst" "0.000327217" "01601" "KCNH2_000132" "g.150655537G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150958449G>A" "" "likely pathogenic" "" "0000116106" "0" "10" "7" "150645534" "150645534" "subst" "0.181908" "01606" "KCNH2_000880" "g.150645534T>G" "" "{PMID:Sung 2011:20636320}, {DOI:Sung 2011:10.1111/j.1540-8159.2010.02826.x}" "" "" "homozygous sister normal ECG with QTc in normal range" "Germline" "" "" "0" "" "" "g.150948446T>G" "" "benign" "" "0000218449" "0" "50" "7" "150644942" "150644942" "subst" "7.51968E-5" "02244" "KCNH2_000882" "g.150644942G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.150947854G>A" "" "VUS" "" "0000218483" "0" "50" "7" "150642485" "150642485" "subst" "5.66158E-5" "02244" "KCNH2_000881" "g.150642485G>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.150945397G>T" "" "VUS" "" "0000218504" "0" "50" "7" "150645550" "150645550" "subst" "0.000464153" "02244" "KCNH2_000883" "g.150645550G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.150948462G>A" "" "VUS" "" "0000222885" "1" "90" "7" "150646165" "150646165" "subst" "0" "00006" "KCNH2_000884" "g.150646165T>C" "" "{PMID:Crotti 2009:19187913}" "" "IVS9-28A/G" "mapped by linkage analysis; branchpoint variant giving unstable RNA (NMD)" "Germline" "yes" "" "0" "" "" "g.150949077T>C" "" "pathogenic" "" "0000235470" "0" "90" "7" "150655245" "150655245" "subst" "0" "00006" "KCNH2_000885" "g.150655245C>T" "" "{PMID:Arnestad 2007:17210839}" "" "R273Q" "exhibited significantly reduced activity when expressed in Chinese hamster ovary cells (Rhodes, unpublished)" "Germline" "" "" "0" "" "" "g.150958157C>T" "" "pathogenic" "" "0000235471" "1" "10" "7" "150645534" "150645534" "subst" "0.181908" "00006" "KCNH2_000880" "g.150645534T>G" "" "{PMID:Arnestad 2007:17210839}" "" "K897T" "" "Germline" "" "" "0" "" "" "g.150948446T>G" "" "benign" "" "0000235472" "1" "90" "7" "150644799" "150644799" "subst" "3.29366E-5" "00006" "KCNH2_000886" "g.150644799G>A" "" "{PMID:Arnestad 2007:17210839}" "" "R954C" "exhibited significantly reduced activity when expressed in Chinese hamster ovary cells (Rhodes, unpublished)" "Germline/De novo (untested)" "" "" "0" "" "" "g.150947711G>A" "" "pathogenic" "" "0000235473" "0" "90" "7" "150655228" "150655228" "subst" "0" "00006" "KCNH2_000887" "g.150655228C>T" "" "{PMID:Arnestad 2007:17210839}" "" "V279M" "" "Germline" "" "" "0" "" "" "g.150958140C>T" "" "pathogenic" "" "0000235474" "0" "90" "7" "150645571" "150645571" "subst" "0.000216858" "00006" "KCNH2_000888" "g.150645571G>A" "" "{PMID:Arnestad 2007:17210839}" "" "R885C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.150948483G>A" "" "pathogenic" "" "0000235475" "0" "90" "7" "150644450" "150644450" "subst" "0" "00006" "KCNH2_000889" "g.150644450T>C" "" "{PMID:Arnestad 2007:17210839}" "" "S1040G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.150947362T>C" "" "pathogenic" "" "0000241172" "0" "90" "7" "150646165" "150646165" "subst" "0" "00006" "KCNH2_000884" "g.150646165T>C" "" "{PMID:Crotti 2009:19187913}" "" "IVS9-28G" "mini gene expression construct expressed in Hep3B/C2C12 cells, splice site shifts to intronic site derived from construct" "In vitro (cloned)" "-" "" "0" "" "" "g.150949077T>C" "" "NA" "" "0000241173" "0" "70" "7" "150646165" "150646165" "subst" "0" "00006" "KCNH2_000890" "g.150646165T>G" "" "{PMID:Crotti 2009:19187913}" "" "IVS9-28A>C" "mini gene expression construct expressed in Hep3B/C2C12 cells, 0.20 splicing shifts to intronic site derived from construct" "In vitro (cloned)" "-" "" "0" "" "" "g.150949077T>G" "" "NA" "" "0000241174" "0" "90" "7" "150646165" "150646165" "subst" "0" "00006" "KCNH2_000891" "g.150646165T>A" "" "{PMID:Crotti 2009:19187913}" "" "IVS9-28A>T" "mini gene expression construct expressed in Hep3B/C2C12 cells, 0.50 splicing shifts to intronic site derived from construct" "In vitro (cloned)" "-" "" "0" "" "" "g.150949077T>A" "" "NA" "" "0000241855" "0" "90" "7" "150671975" "150671975" "subst" "0" "00006" "KCNH2_000783" "g.150671975C>A" "" "{PMID:Lupoglazoff JM 2001:11222472}" "" "" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974887C>A" "" "pathogenic" "" "0000241856" "0" "90" "7" "150672029" "150672029" "subst" "0" "00006" "KCNH2_000918" "g.150672029C>A" "" "{PMID:Moss 2002:11854117}" "" "G77T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974941C>A" "" "pathogenic" "" "0000241857" "0" "90" "7" "150672024" "150672024" "subst" "0" "00006" "KCNH2_001156" "g.150672024T>C" "" "{PMID:Rossenbacker 2005:15699249}" "" "A82G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974936T>C" "" "pathogenic" "" "0000241858" "0" "90" "7" "150672019" "150672019" "subst" "0" "00006" "KCNH2_001155" "g.150672019G>T" "" "{PMID:Chen 1999:10077519}" "" "C87A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974931G>T" "" "pathogenic" "" "0000241859" "0" "90" "7" "150672019" "150672019" "subst" "0" "00006" "KCNH2_001155" "g.150672019G>T" "" "{PMID:Splawski 2000:10973849}" "" "C87A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974931G>T" "" "pathogenic" "" "0000241860" "0" "90" "7" "150655510" "150655518" "del" "0" "00006" "KCNH2_000151" "g.150655510_150655518del" "" "{PMID:Kanters 2004:15851171}" "" "del 554-562" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958422_150958430del" "" "pathogenic" "" "0000241861" "0" "90" "7" "150672019" "150672019" "subst" "0" "00006" "KCNH2_001155" "g.150672019G>T" "" "{PMID:Struijk 2006:16937190}" "" "C87A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974931G>T" "" "pathogenic" "" "0000241862" "0" "90" "7" "150672014" "150672014" "subst" "0" "00006" "KCNH2_001154" "g.150672014A>C" "" "{PMID:Tester 2005:15840476}" "" "T92G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974926A>C" "" "pathogenic" "" "0000241863" "0" "90" "7" "150672008" "150672008" "subst" "0" "00006" "KCNH2_001153" "g.150672008T>G" "" "{PMID:Chen 1999:10077519}" "" "A98C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974920T>G" "" "pathogenic" "" "0000241864" "0" "90" "7" "150672008" "150672008" "subst" "0" "00006" "KCNH2_001153" "g.150672008T>G" "" "{PMID:Splawski 2000:10973849}" "" "A98C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974920T>G" "" "pathogenic" "" "0000241865" "0" "90" "7" "150671978" "150671978" "subst" "0" "00006" "KCNH2_001152" "g.150671978T>C" "" "{PMID:Napolitano 2005:16414944}" "" "A128G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974890T>C" "" "pathogenic" "" "0000241866" "0" "90" "7" "150671974" "150671974" "subst" "0" "00006" "KCNH2_001151" "g.150671974G>T" "" "{PMID:Splawski 2000:10973849}" "" "C132A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974886G>T" "" "pathogenic" "" "0000241867" "0" "90" "7" "150644780" "150644780" "subst" "0" "00006" "KCNH2_000907" "g.150644780C>T" "" "{PMID:Lupoglazoff JM 2001:11222472}" "" "" "" "Germline" "" "" "0" "" "" "g.150947692C>T" "" "pathogenic" "" "0000241868" "0" "90" "7" "150671966" "150671966" "subst" "0" "00006" "KCNH2_001150" "g.150671966C>A" "" "{PMID:Splawski 2000:10973849}" "" "G140T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974878C>A" "" "pathogenic" "" "0000241869" "0" "90" "7" "150671960" "150671960" "subst" "0" "00006" "KCNH2_001149" "g.150671960C>T" "" "{PMID:Napolitano 2005:16414944}" "" "G146A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974872C>T" "" "pathogenic" "" "0000241870" "0" "90" "7" "150671949" "150671949" "subst" "0" "00006" "KCNH2_001148" "g.150671949C>G" "" "{PMID:Chen 1999:10077519}" "" "G157C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974861C>G" "" "pathogenic" "" "0000241871" "0" "90" "7" "150671949" "150671949" "subst" "0" "00006" "KCNH2_001148" "g.150671949C>G" "" "{PMID:Splawski 2000:10973849}" "" "G157C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974861C>G" "" "pathogenic" "" "0000241872" "0" "90" "7" "150671942" "150671942" "subst" "0" "00006" "KCNH2_001147" "g.150671942G>A" "" "{PMID:Tester 2005:15840476}" "" "C164T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974854G>A" "" "pathogenic" "" "0000241873" "0" "90" "7" "150671939" "150671939" "subst" "0" "00006" "KCNH2_000849" "g.150671939C>T" "" "{PMID:Chen 1999:10077519}" "" "G167A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974851C>T" "" "pathogenic" "" "0000241874" "0" "90" "7" "150671939" "150671939" "subst" "0" "00006" "KCNH2_000849" "g.150671939C>T" "" "{PMID:Splawski 2000:10973849}" "" "G167A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974851C>T" "" "pathogenic" "" "0000241875" "0" "90" "7" "150671934" "150671934" "subst" "0" "00006" "KCNH2_000777" "g.150671934C>T" "" "{PMID:Lupoglazoff JM 2001:11222472}" "" "G172A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974846C>T" "" "pathogenic" "" "0000241876" "0" "90" "7" "150671933" "150671933" "subst" "0" "00006" "KCNH2_001145" "g.150671933T>G" "" "{PMID:Napolitano 2005:16414944}" "" "A173C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974845T>G" "" "pathogenic" "" "0000241877" "0" "90" "7" "150671933" "150671933" "subst" "0" "00006" "KCNH2_001146" "g.150671933T>C" "" "{PMID:Napolitano 2005:16414944}" "" "A173G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974845T>C" "" "pathogenic" "" "0000241878" "0" "90" "7" "150671932" "150671932" "subst" "0" "00006" "KCNH2_001144" "g.150671932C>G" "" "{PMID:Napolitano 2005:16414944}" "" "G174C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974844C>G" "" "pathogenic" "" "0000241879" "0" "90" "7" "150671915" "150671915" "subst" "0" "00006" "KCNH2_000776" "g.150671915C>T" "" "{PMID:Van Langen 2003:12566525}" "" "G191A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974827C>T" "" "pathogenic" "" "0000241880" "0" "90" "7" "150671913" "150671913" "subst" "0" "00006" "KCNH2_001143" "g.150671913T>G" "" "{PMID:Paulussen 2002:12354768}" "" "A193C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974825T>G" "" "pathogenic" "" "0000241881" "0" "90" "7" "150671910" "150671910" "subst" "0" "00006" "KCNH2_001142" "g.150671910A>C" "" "{PMID:Chen 1999:10077519}" "" "T196G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974822A>C" "" "pathogenic" "" "0000241882" "0" "90" "7" "150671910" "150671910" "subst" "0" "00006" "KCNH2_001142" "g.150671910A>C" "" "{PMID:Splawski 2000:10973849}" "" "T196G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974822A>C" "" "pathogenic" "" "0000241883" "0" "90" "7" "150671904" "150671904" "subst" "0" "00006" "KCNH2_001141" "g.150671904A>G" "" "{PMID:Napolitano 2005:16414944}" "" "T202C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974816A>G" "" "pathogenic" "" "0000241884" "0" "90" "7" "150671897" "150671897" "subst" "0" "00006" "KCNH2_001140" "g.150671897T>C" "" "{PMID:Chen 1999:10077519}" "" "A209G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974809T>C" "" "pathogenic" "" "0000241885" "0" "90" "7" "150671897" "150671897" "subst" "0" "00006" "KCNH2_001140" "g.150671897T>C" "" "{PMID:Splawski 2000:10973849}" "" "A209G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974809T>C" "" "pathogenic" "" "0000241886" "0" "90" "7" "150671895" "150671895" "subst" "0" "00006" "KCNH2_001139" "g.150671895C>G" "" "{PMID:Napolitano 2005:16414944}" "" "G211C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974807C>G" "" "pathogenic" "" "0000241887" "0" "90" "7" "150671891" "150671891" "subst" "0" "00006" "KCNH2_000773" "g.150671891G>T" "" "{PMID:Splawski 2000:10973849}" "" "C215A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974803G>T" "" "pathogenic" "" "0000241888" "0" "90" "7" "150671885" "150671885" "subst" "0" "00006" "KCNH2_001138" "g.150671885G>A" "" "{PMID:Napolitano 2005:16414944}" "" "C221T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974797G>A" "" "pathogenic" "" "0000241889" "0" "90" "7" "150671861" "150671891" "del" "0" "00006" "KCNH2_001135" "g.150671861_150671891del" "" "{PMID:Splawski 2000:10973849}" "" "221_251del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974773_150974803del" "" "pathogenic" "" "0000241890" "0" "90" "7" "150671874" "150671874" "subst" "0" "00006" "KCNH2_001137" "g.150671874C>G" "" "{PMID:Chen 1999:10077519}" "" "G232C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974786C>G" "" "pathogenic" "" "0000241891" "0" "90" "7" "150671874" "150671874" "subst" "0" "00006" "KCNH2_001137" "g.150671874C>G" "" "{PMID:Splawski 2000:10973849}" "" "G232C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974786C>G" "" "pathogenic" "" "0000241892" "0" "90" "7" "150671865" "150671865" "subst" "0" "00006" "KCNH2_001136" "g.150671865G>A" "" "{PMID:Splawski 2000:10973849}" "" "C241T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974777G>A" "" "pathogenic" "" "0000241893" "0" "90" "7" "150671861" "150671869" "del" "0" "00006" "KCNH2_001134" "g.150671861_150671869del" "" "{PMID:Napolitano 2005:16414944}" "" "244_252del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974773_150974781del" "" "pathogenic" "" "0000241894" "0" "90" "7" "150671861" "150671869" "dup" "0" "00006" "KCNH2_000951" "g.150671861_150671869dup" "" "{PMID:Larsen 2001:11468227}" "" "244_252ins9 (82-84insIAQ)" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974773_150974781dup" "" "pathogenic" "" "0000241895" "0" "90" "7" "150649820" "150649836" "dup" "0" "00006" "KCNH2_001091" "g.150649820_150649836dup" "" "{PMID:Splawski 2000:10973849}" "" "1234_1250dup" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952732_150952748dup" "" "pathogenic" "" "0000241896" "0" "90" "7" "150671852" "150671852" "subst" "0" "00006" "KCNH2_001133" "g.150671852G>A" "" "{PMID:Tester 2005:15840476}" "" "C254T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974764G>A" "" "pathogenic" "" "0000241897" "0" "90" "7" "150671849" "150671849" "subst" "0" "00006" "KCNH2_001132" "g.150671849A>C" "" "{PMID:Chen 1999:10077519}" "" "T257G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974761A>C" "" "pathogenic" "" "0000241898" "0" "90" "7" "150671849" "150671849" "subst" "0" "00006" "KCNH2_001132" "g.150671849A>C" "" "{PMID:Splawski 2000:10973849}" "" "T257G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974761A>C" "" "pathogenic" "" "0000241899" "0" "90" "7" "150671846" "150671846" "subst" "0" "00006" "KCNH2_000770" "g.150671846A>G" "" "{PMID:Jongbloed 2002:12402336}" "" "T260C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974758A>G" "" "pathogenic" "" "0000241900" "0" "90" "7" "150671846" "150671846" "subst" "0" "00006" "KCNH2_000770" "g.150671846A>G" "" "{PMID:Van Langen 2003:12566525}" "" "T260C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974758A>G" "" "pathogenic" "" "0000241901" "0" "90" "7" "150671819" "150671819" "subst" "0" "00006" "KCNH2_001131" "g.150671819A>G" "" "{PMID:Larsen 2001:11468227}" "" "T287C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974731A>G" "" "pathogenic" "" "0000241902" "0" "90" "7" "150671819" "150671819" "subst" "0" "00006" "KCNH2_001131" "g.150671819A>G" "" "{PMID:Struijk 2006:16937190}" "" "T287C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974731A>G" "" "pathogenic" "" "0000241903" "0" "90" "7" "150671810" "150671810" "subst" "0" "00006" "KCNH2_000758" "g.150671810T>G" "" "{PMID:Jongbloed 2002:12402336}" "" "" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974722T>G" "" "pathogenic" "" "0000241904" "0" "90" "7" "150671808" "150671808" "subst" "0" "00006" "KCNH2_000757" "g.150671808G>C" "" "{PMID:Millat 2006(1):16922724}" "" "C298G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974720G>C" "" "pathogenic" "" "0000241905" "0" "90" "7" "150671807" "150671807" "subst" "0" "00006" "KCNH2_001130" "g.150671807C>T" "" "{PMID:Tester 2005:15840476}" "" "G299A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974719C>T" "" "pathogenic" "" "0000241906" "0" "90" "7" "150671805" "150671805" "subst" "0" "00006" "KCNH2_001129" "g.150671805T>C" "" "{PMID:Larsen 2001:11468227}" "" "A301G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974717T>C" "" "pathogenic" "" "0000241907" "0" "90" "7" "150671805" "150671805" "subst" "0" "00006" "KCNH2_001129" "g.150671805T>C" "" "{PMID:Christiansen 2005:15670565}" "" "A301G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974717T>C" "" "pathogenic" "" "0000241908" "0" "90" "7" "150656822" "150656824" "ins" "0" "00006" "KCNH2_001128" "g.150656822_150656824insCAT" "" "{PMID:Napolitano 2005:16414944}" "" "308_310insATG" "{cardmoc:hergmut} (variantchecker): 709 and 711 are not consecutive positions.\r\nVariant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000241909" "0" "90" "7" "150656796" "150656798" "del" "0" "00006" "KCNH2_001127" "g.150656796_150656798del" "" "{PMID:Napolitano 2005:16414944}" "" "337_339del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150959708_150959710del" "" "pathogenic" "" "0000241911" "0" "90" "7" "150656761" "150656761" "subst" "0" "00006" "KCNH2_000919" "g.150656761A>C" "" "{PMID:Moss 2002:11854117}" "" "T371G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150959673A>C" "" "pathogenic" "" "0000241912" "0" "90" "7" "150656761" "150656761" "subst" "0" "00006" "KCNH2_000919" "g.150656761A>C" "" "{PMID:Shushi 2005:16029385}" "" "T371G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150959673A>C" "" "pathogenic" "" "0000241913" "0" "90" "7" "150656761" "150656761" "subst" "0" "00006" "KCNH2_000753" "g.150656761A>G" "" "{PMID:Hayashi 2004:15043509}" "" "T371C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150959673A>G" "" "pathogenic" "" "0000241914" "0" "90" "7" "150656676" "150656737" "del" "0" "00006" "KCNH2_000902" "g.150656676_150656737del" "" "{PMID:Tester 2005:15840476}" "" "395_456del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150959588_150959649del" "" "pathogenic" "" "0000241915" "0" "90" "7" "150656713" "150656713" "dup" "0" "00006" "KCNH2_001126" "g.150656713dup" "" "{PMID:Splawski 2000:10973849}" "" "422_423insC" "{cardmoc:hergmut} (variantchecker): Insertion of C at position 823_824 was given, however, the HGVS notation prescribes that it should be a duplication of C at position 823_823." "Germline" "" "" "0" "" "" "g.150959625dup" "" "pathogenic" "" "0000241916" "0" "90" "7" "150656685" "150656685" "del" "0" "00006" "KCNH2_000752" "g.150656685del" "" "{PMID:Swan 1999:10483966}" "" "453delC" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150959597del" "" "pathogenic" "" "0000241917" "0" "90" "7" "150656685" "150656685" "dup" "0" "00006" "KCNH2_001125" "g.150656685dup" "" "{PMID:Splawski 2000:10973849}" "" "453_454insC" "{cardmoc:hergmut} (variantchecker): Insertion of C at position 854_855 was given, however, the HGVS notation prescribes that it should be a duplication of C at position 854_854." "Germline" "" "" "0" "" "" "g.150959597dup" "" "pathogenic" "" "0000241918" "0" "90" "7" "150656684" "150656685" "dup" "0" "00006" "KCNH2_000894" "g.150656684_150656685dup" "" "{PMID:Tester 2005:15840476}" "" "453_454insCC" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150959596_150959597dup" "" "pathogenic" "" "0000241919" "0" "90" "7" "150655537" "150655537" "subst" "0.000327217" "00006" "KCNH2_000132" "g.150655537G>A" "" "{PMID:Swan 1999:10483966}" "" "Arg176Trp" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958449G>A" "" "pathogenic" "" "0000241920" "0" "90" "7" "150655519" "150655526" "dup" "0" "00006" "KCNH2_000895" "g.150655519_150655526dup" "" "{PMID:Tester 2005:15840476}" "" "544_545insGGTGCGGT" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958431_150958438dup" "" "pathogenic" "" "0000241921" "0" "90" "7" "150655518" "150655518" "subst" "0" "00006" "KCNH2_001123" "g.150655518G>T" "" "{PMID:Tester 2005:15840476}" "" "C545A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958430G>T" "" "pathogenic" "" "0000241922" "0" "90" "7" "150655497" "150655506" "delins" "0" "00006" "KCNH2_001121" "g.150655497_150655506delinsGCGAA" "" "{PMID:Napolitano 2005:16414944}" "" "557_566delinsTTCGC" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958409_150958418delinsGCGAA" "" "pathogenic" "" "0000241923" "0" "90" "7" "150655464" "150655506" "dup" "0" "00006" "KCNH2_001117" "g.150655464_150655506dup" "" "{PMID:Hoorntje 1999:10491368}" "" "558_600dup" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958376_150958418dup" "" "pathogenic" "" "0000241924" "0" "90" "7" "150655490" "150655490" "del" "0" "00006" "KCNH2_001118" "g.150655490del" "" "{PMID:Napolitano 2005:16414944}" "" "576delG" "{cardmoc:hergmut} (variantchecker): Sequence \"G\" at position 977 was given, however, the HGVS notation prescribes that on the forward strand it should be \"G\" at position 978." "Germline" "" "" "0" "" "" "g.150958402del" "" "pathogenic" "" "0000241925" "0" "90" "7" "150655482" "150655486" "del" "0" "00006" "KCNH2_000908" "g.150655482_150655486del" "" "{PMID:Napolitano 2005:16414944}" "" "578_582del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958394_150958398del" "" "pathogenic" "" "0000241926" "0" "90" "7" "150655482" "150655486" "del" "0" "00006" "KCNH2_000908" "g.150655482_150655486del" "" "{PMID:Jongbloed 2002:12402336}" "" "582_587delCCGTG" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958394_150958398del" "" "pathogenic" "" "0000241927" "0" "90" "7" "150655482" "150655486" "del" "0" "00006" "KCNH2_000908" "g.150655482_150655486del" "" "{PMID:Van Langen 2003:12566525}" "" "G193 fs/136" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958394_150958398del" "" "pathogenic" "" "0000241928" "0" "90" "7" "150647303" "150647303" "del" "0" "00006" "KCNH2_000807" "g.150647303del" "" "{PMID:Van Langen 2003:12566525}" "" "R783 fs/24" "" "Germline" "" "" "0" "" "" "g.150950215del" "" "pathogenic" "" "0000241929" "0" "90" "7" "150655378" "150655378" "subst" "0" "00006" "KCNH2_001114" "g.150655378C>A" "" "{PMID:Tester 2005:15840476}" "" "G685T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958290C>A" "" "pathogenic" "" "0000241930" "0" "90" "7" "150655351" "150655351" "subst" "0" "00006" "KCNH2_001113" "g.150655351C>T" "" "{PMID:Tester 2005:15840476}" "" "G712A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958263C>T" "" "pathogenic" "" "0000241931" "0" "90" "7" "150655342" "150655342" "dup" "0" "00006" "KCNH2_001112" "g.150655342dup" "" "{PMID:Splawski 2000:10973849}" "" "724_725insC" "{cardmoc:hergmut} (variantchecker): Insertion of C at position 1125_1126 was given, however, the HGVS notation prescribes that it should be a duplication of C at position 1125_1125." "Germline" "" "" "0" "" "" "g.150958254dup" "" "pathogenic" "" "0000241932" "0" "90" "7" "150655329" "150655330" "dup" "0" "00006" "KCNH2_001111" "g.150655329_150655330dup" "" "{PMID:Napolitano 2005:16414944}" "" "735_736insCC" "{cardmoc:hergmut} (variantchecker): Insertion of CC at position 1136_1137 was given, however, the HGVS notation prescribes that it should be a duplication of CC at position 1136_1137." "Germline" "" "" "0" "" "" "g.150958241_150958242dup" "" "pathogenic" "" "0000241933" "0" "90" "7" "150655312" "150655312" "subst" "0" "00006" "KCNH2_001109" "g.150655312G>A" "" "{PMID:Napolitano 2005:16414944}" "" "C751T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958224G>A" "" "pathogenic" "" "0000241934" "0" "90" "7" "150655413" "150655443" "" "0" "00006" "KCNH2_000000" "g.(150655413_150655443?)" "" "{PMID:Van Langen 2003:12566525}" "" "210insL, T216 fs/120" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000241935" "0" "10" "7" "150644428" "150644428" "subst" "0.0162168" "00006" "KCNH2_000903" "g.150644428C>A" "0.017 cases SDS, 0.047 controls" "{PMID:Arnestad 2007:17210839}" "" "R1047L" "" "Germline" "" "" "0" "" "" "g.150947340C>A" "" "benign" "" "0000241936" "0" "10" "7" "150645534" "150645534" "subst" "0.181908" "00006" "KCNH2_000880" "g.150645534T>G" "0.19 cases SIDS, 0.22 controls" "{PMID:Arnestad 2007:17210839}" "" "K897T" "" "Germline" "" "" "0" "" "" "g.150948446T>G" "" "benign" "" "0000241937" "0" "90" "7" "150655178" "150655178" "del" "0" "00006" "KCNH2_001106" "g.150655178del" "" "{PMID:Splawski 2000:10973849}" "" "885del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958090del" "" "pathogenic" "" "0000241938" "0" "90" "7" "150655147" "150655147" "subst" "0" "00006" "KCNH2_001105" "g.150655147C>A" "" "{PMID:Tester 2005:15840476}" "" "G916T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958059C>A" "" "pathogenic" "" "0000241939" "0" "90" "7" "150654573" "150654573" "subst" "0.000114129" "00006" "KCNH2_001104" "g.150654573G>A" "" "{PMID:Splawski 2000:10973849}" "" "C934T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150957485G>A" "" "pathogenic" "" "0000241940" "0" "90" "7" "150654548" "150654548" "subst" "0" "00006" "KCNH2_001102" "g.150654548G>T" "" "{PMID:Millat 2006(1):16922724}" "" "C959A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150957460G>T" "" "pathogenic" "" "0000241941" "0" "90" "7" "150654548" "150654548" "subst" "4.07229E-6" "00006" "KCNH2_001103" "g.150654548G>A" "" "{PMID:Tester 2005:15840476}" "" "C959T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150957460G>A" "" "pathogenic" "" "0000241942" "0" "90" "7" "150654525" "150654525" "subst" "0.00057748" "00006" "KCNH2_001101" "g.150654525G>A" "" "{PMID:Tester 2005:15840476}" "" "C982T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150957437G>A" "" "pathogenic" "" "0000241943" "0" "90" "7" "150654525" "150654525" "subst" "0.00057748" "00006" "KCNH2_001101" "g.150654525G>A" "" "{PMID:Grunnet 2005:16253915}" "" "C982T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150957437G>A" "" "pathogenic" "" "0000241944" "0" "90" "7" "150654506" "150654506" "subst" "0" "00006" "KCNH2_000724" "g.150654506G>A" "" "{PMID:Lupoglazoff JM 2001:11222472}" "" "C1001T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150957418G>A" "" "pathogenic" "" "0000241945" "0" "90" "7" "150656792" "150656792" "subst" "0" "00006" "KCNH2_000754" "g.150656792G>A" "" "{PMID:Lupoglazoff JM 2001:11222472}" "" "" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150959704G>A" "" "pathogenic" "" "0000241946" "0" "90" "7" "150654468" "150654468" "subst" "0.00108024" "00006" "KCNH2_000145" "g.150654468G>A" "" "{PMID:Splawski 2000:10973849}" "" "C1039T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150957380G>A" "" "pathogenic" "" "0000241947" "0" "90" "7" "150654468" "150654468" "subst" "0.00108024" "00006" "KCNH2_000145" "g.150654468G>A" "" "{PMID:Jongbloed 2002:12402336}" "" "C1039T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150957380G>A" "" "pathogenic" "" "0000241948" "0" "90" "7" "150654468" "150654468" "subst" "0.00108024" "00006" "KCNH2_000145" "g.150654468G>A" "" "{PMID:Paulussen 2004:14760488}" "" "C1039T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150957380G>A" "" "pathogenic" "" "0000241949" "0" "90" "7" "150654411" "150654411" "subst" "0" "00006" "KCNH2_000720" "g.150654411G>A" "" "{PMID:Larsen 2001:11468227}" "" "C1096T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150957323G>A" "" "pathogenic" "" "0000241950" "0" "90" "7" "150649842" "150649842" "subst" "0" "00006" "KCNH2_001094" "g.150649842C>T" "" "{PMID:Splawski 2000:10973849}" "" "G1228A" "{cardmoc:hergmut} (variantchecker): G not found at position 1629, found T instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000241951" "0" "90" "7" "150648805" "150652489" "dup" "0" "00006" "KCNH2_000762" "g.150648805_150652489dup" "" "{PMID:Koopmann TT 2006:16399053}" "" "" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951717_150955401dup" "" "pathogenic" "" "0000241952" "0" "90" "7" "150649943" "150649943" "subst" "0" "00006" "KCNH2_001096" "g.150649943T>C" "" "{PMID:Splawski 2000:10973849}" "" "A1129-2G" "{cardmoc:hergmut} (variantchecker): Intronic position given for a non-genomic reference sequence." "Germline" "" "" "0" "" "" "g.150952855T>C" "" "pathogenic" "" "0000241953" "0" "90" "7" "150649899" "150649899" "subst" "0" "00006" "KCNH2_000718" "g.150649899G>A" "" "{PMID:Napolitano 2005:16414944}" "" "C1171T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952811G>A" "" "pathogenic" "" "0000241954" "0" "90" "7" "150649871" "150649871" "subst" "0" "00006" "KCNH2_001095" "g.150649871A>T" "" "{PMID:Larsen 2001:11468227}" "" "T1199A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952783A>T" "" "pathogenic" "" "0000241955" "0" "90" "7" "150649871" "150649871" "subst" "0" "00006" "KCNH2_001095" "g.150649871A>T" "" "{PMID:Struijk 2006:16937190}" "" "T1199A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952783A>T" "" "pathogenic" "" "0000241956" "0" "90" "7" "150649841" "150649841" "subst" "0" "00006" "KCNH2_001093" "g.150649841C>G" "" "{PMID:Napolitano 2005:16414944}" "" "G1229C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952753C>G" "" "pathogenic" "" "0000241957" "0" "90" "7" "150649835" "150649835" "subst" "0" "00006" "KCNH2_001092" "g.150649835C>T" "" "{PMID:Napolitano 2005:16414944}" "" "G1235A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952747C>T" "" "pathogenic" "" "0000241958" "0" "90" "7" "150649832" "150649832" "subst" "0" "00006" "KCNH2_000928" "g.150649832A>G" "" "{PMID:Liu 2002:12442276}" "" "1421T>C (L413P)" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952744A>G" "" "pathogenic" "" "0000241959" "0" "90" "7" "150649811" "150649811" "subst" "0" "00006" "KCNH2_001089" "g.150649811T>C" "" "{PMID:Tester 2005:15840476}" "" "A1259G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952723T>C" "" "pathogenic" "" "0000241960" "0" "90" "7" "150649809" "150649809" "del" "0" "00006" "KCNH2_000952" "g.150649809del" "" "{PMID:Curran 1995:7889573}" "" "1261delA" "{cardmoc:hergmut}" "Germline" "yes" "" "0" "" "" "g.150952721del" "" "pathogenic" "" "0000241961" "0" "90" "7" "150649808" "150649808" "subst" "0" "00006" "KCNH2_001088" "g.150649808G>A" "" "{PMID:Tester 2005:15840476}" "" "C1262T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952720G>A" "" "pathogenic" "" "0000241962" "0" "90" "7" "150649816" "150649816" "subst" "0" "00006" "KCNH2_001090" "g.150649816C>T" "" "{PMID:Tester 2005:15840476}" "" "G1254A" "{cardmoc:hergmut} (variantchecker): G not found at position 1655, found C instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000241963" "0" "90" "7" "150649793" "150649793" "subst" "0" "00006" "KCNH2_000715" "g.150649793G>T" "" "{PMID:Napolitano 2005:16414944}" "" "C1277A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952705G>T" "" "pathogenic" "" "0000241964" "0" "90" "7" "150649791" "150649791" "subst" "0" "00006" "KCNH2_001086" "g.150649791A>G" "" "{PMID:Napolitano 2005:16414944}" "" "T1279C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952703A>G" "" "pathogenic" "" "0000241965" "0" "90" "7" "150649790" "150649790" "subst" "0" "00006" "KCNH2_001085" "g.150649790T>G" "" "{PMID:Tester 2005:15840476}" "" "A1280C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952702T>G" "" "pathogenic" "" "0000241966" "0" "90" "7" "150649787" "150649787" "subst" "0" "00006" "KCNH2_001084" "g.150649787G>T" "" "{PMID:Priori 1999:9927399}" "" "C1283A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952699G>T" "" "pathogenic" "" "0000241967" "0" "90" "7" "150649787" "150649787" "subst" "1.62425E-5" "00006" "KCNH2_000746" "g.150649787G>A" "" "{PMID:Napolitano 2005:16414944}" "" "C1283T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952699G>A" "" "pathogenic" "" "0000241968" "0" "90" "7" "150649763" "150649763" "subst" "2.43649E-5" "00006" "KCNH2_001083" "g.150649763G>A" "" "{PMID:Priori 1999:9927399}" "" "C1307T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952675G>A" "" "pathogenic" "" "0000241969" "0" "90" "7" "150649738" "150649738" "subst" "0" "00006" "KCNH2_000925" "g.150649738C>A" "" "{PMID:Liu 2002:12442276}" "" "" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952650C>A" "" "pathogenic" "" "0000241970" "0" "90" "7" "150649729" "150649729" "subst" "0.000146666" "00006" "KCNH2_000943" "g.150649729G>T" "" "{PMID:Jongbloed 2002:12402336}" "" "C1341A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952641G>T" "" "pathogenic" "" "0000241971" "0" "90" "7" "150649739" "150649739" "subst" "0" "00006" "KCNH2_001082" "g.150649739G>A" "" "{PMID:Laitinen 2000:10862094}" "" "C1331T" "{cardmoc:hergmut} (variantchecker): C not found at position 1732, found A instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000241972" "0" "90" "7" "150649704" "150649704" "subst" "0" "00006" "KCNH2_001081" "g.150649704C>A" "" "{PMID:Tester 2005:15840476}" "" "G1366T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952616C>A" "" "pathogenic" "" "0000241973" "0" "90" "7" "150649692" "150649692" "subst" "0" "00006" "KCNH2_001080" "g.150649692C>A" "" "{PMID:Napolitano 2005:16414944}" "" "G1378T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952604C>A" "" "pathogenic" "" "0000241974" "0" "90" "7" "150649662" "150649662" "subst" "0" "00006" "KCNH2_000953" "g.150649662T>C" "" "{PMID:Curran 1995:7889573}" "" "A1408G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952574T>C" "" "pathogenic" "" "0000241975" "0" "90" "7" "150649649" "150649649" "subst" "0" "00006" "KCNH2_001079" "g.150649649G>A" "" "{PMID:Tanaka 1997:9024139}" "" "C1421T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952561G>A" "" "pathogenic" "" "0000241976" "0" "90" "7" "150649646" "150649646" "subst" "0" "00006" "KCNH2_000927" "g.150649646T>C" "" "{PMID:Liu 2006:16831322}" "" "Y475C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952558T>C" "" "pathogenic" "" "0000241977" "0" "90" "7" "150649646" "150649648" "del" "0" "00006" "KCNH2_001078" "g.150649646_150649648del" "" "{PMID:Tester 2005:15840476}" "" "1423_1425delTAC" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952558_150952560del" "" "pathogenic" "" "0000241978" "0" "90" "7" "150649602" "150649602" "subst" "0" "00006" "KCNH2_001077" "g.150649602C>T" "" "{PMID:Yoshida 2001:11170080}" "" "G1468A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952514C>T" "" "pathogenic" "" "0000241979" "0" "90" "7" "150649591" "150649591" "subst" "0" "00006" "KCNH2_001076" "g.150649591G>C" "" "{PMID:Itoh T 1998:9600240}" "" "C1479G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952503G>C" "" "pathogenic" "" "0000241980" "0" "90" "7" "150649592" "150649592" "subst" "0" "00006" "KCNH2_000917" "g.150649592T>C" "" "{PMID:Lupoglazoff 2004:14998624}" "" "Y493C" "{cardmoc:hergmut}" "De novo" "" "" "0" "" "" "g.150952504T>C" "" "pathogenic" "" "0000241981" "0" "90" "7" "150649548" "150649574" "del" "0" "00006" "KCNH2_000954" "g.150649548_150649574del" "" "{PMID:Curran 1995:7889573}" "" "1497_1523del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952460_150952486del" "" "pathogenic" "" "0000241982" "0" "90" "7" "150649569" "150649569" "subst" "0" "00006" "KCNH2_000768" "g.150649569C>T" "" "{PMID:Jongbloed 2002:12402336}" "" "G1501A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952481C>T" "" "pathogenic" "" "0000241983" "0" "90" "7" "150649569" "150649569" "subst" "0" "00006" "KCNH2_000768" "g.150649569C>T" "" "{PMID:Lupoglazoff 2004:14998624}" "" "G1501A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952481C>T" "" "pathogenic" "" "0000241984" "0" "90" "7" "150649569" "150649569" "subst" "0" "00006" "KCNH2_001075" "g.150649569C>G" "" "{PMID:Napolitano 2005:16414944}" "" "G1501C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952481C>G" "" "pathogenic" "" "0000241985" "0" "90" "7" "150648906" "150648906" "subst" "0" "00006" "KCNH2_001074" "g.150648906C>A" "" "{PMID:Millat 2006(1):16922724}" "" "G1575T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951818C>A" "" "pathogenic" "" "0000241986" "0" "90" "7" "150648898" "150648898" "subst" "0" "00006" "KCNH2_001073" "g.150648898C>G" "" "{PMID:Millat 2006(1):16922724}" "" "G1583C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951810C>G" "" "pathogenic" "" "0000241987" "0" "90" "7" "150648889" "150648889" "subst" "0" "00006" "KCNH2_001072" "g.150648889C>T" "" "{PMID:Splawski 2000:10973849}" "" "G1592A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951801C>T" "" "pathogenic" "" "0000241988" "0" "90" "7" "150648881" "150648881" "subst" "0" "00006" "KCNH2_000766" "g.150648881G>A" "" "{PMID:Itoh T 1998:9600240}" "" "C1600T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951793G>A" "" "pathogenic" "" "0000241989" "0" "90" "7" "150648881" "150648881" "subst" "0" "00006" "KCNH2_000766" "g.150648881G>A" "" "{PMID:Nakajima 1999:10690305}" "" "C1600T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951793G>A" "" "pathogenic" "" "0000241990" "0" "90" "7" "150648880" "150648880" "subst" "0" "00006" "KCNH2_001071" "g.150648880C>A" "" "{PMID:Napolitano 2005:16414944}" "" "G1601T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951792C>A" "" "pathogenic" "" "0000241991" "0" "90" "7" "150648865" "150648871" "del" "0" "00006" "KCNH2_001070" "g.150648865_150648871del" "" "{PMID:Napolitano 2005:16414944}" "" "1613_1619del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951777_150951783del" "" "pathogenic" "" "0000241992" "0" "90" "7" "150648851" "150648852" "del" "0" "00006" "KCNH2_000913" "g.150648851_150648852del" "" "{PMID:Swan 1999:10483966}" "" "1631delAG" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951763_150951764del" "" "pathogenic" "" "0000241993" "0" "90" "7" "150648826" "150648826" "subst" "7.31803E-5" "00006" "KCNH2_000914" "g.150648826A>G" "" "{PMID:Swan 1999:10483966}" "" "T1655C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951738A>G" "" "pathogenic" "" "0000241994" "0" "90" "7" "150648826" "150648826" "subst" "7.31803E-5" "00006" "KCNH2_000914" "g.150648826A>G" "" "{PMID:Splawski 2000:10973849}" "" "T1655C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951738A>G" "" "pathogenic" "" "0000241995" "0" "90" "7" "150648826" "150648826" "subst" "7.31803E-5" "00006" "KCNH2_000914" "g.150648826A>G" "" "{PMID:Piippo 2000:10841244}" "" "T1655C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951738A>G" "" "pathogenic" "" "0000241997" "0" "90" "7" "150648812" "150648812" "del" "0" "00006" "KCNH2_001069" "g.150648812del" "" "{PMID:Splawski 2000:10973849}" "" "1671delT" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951724del" "" "pathogenic" "" "0000241998" "0" "90" "7" "150648809" "150648809" "subst" "0" "00006" "KCNH2_000763" "g.150648809C>G" "" "{PMID:Jongbloed 1999:10220144}" "" "G1672C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951721C>G" "" "pathogenic" "" "0000241999" "0" "90" "7" "150648805" "150648805" "subst" "0" "00006" "KCNH2_000924" "g.150648805A>T" "" "{PMID:Liu 2002:12442276}" "" "T1676A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951717A>T" "" "pathogenic" "" "0000242000" "0" "90" "7" "150648800" "150648800" "subst" "0" "00006" "KCNH2_001068" "g.150648800C>G" "" "{PMID:Bellocq 2004:15280442}" "" "G1681C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951712C>G" "" "pathogenic" "" "0000242001" "0" "90" "7" "150648800" "150648800" "subst" "0" "00006" "KCNH2_000761" "g.150648800C>T" "" "{PMID:Splawski 2000:10973849}" "" "G1681A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951712C>T" "" "pathogenic" "" "0000242002" "0" "90" "7" "150648800" "150648800" "subst" "0" "00006" "KCNH2_000761" "g.150648800C>T" "" "{PMID:Chugh 2004:15120823}" "" "G1681A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951712C>T" "" "pathogenic" "" "0000242003" "0" "90" "7" "150648799" "150648799" "subst" "0" "00006" "KCNH2_000021" "g.150648799G>A" "" "{PMID:Tanaka 1997:9024139}" "" "C1682T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951711G>A" "" "pathogenic" "" "0000242004" "0" "90" "7" "150648799" "150648799" "subst" "0" "00006" "KCNH2_000021" "g.150648799G>A" "" "{PMID:Priori 1999:9927399}" "" "C1682T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951711G>A" "" "pathogenic" "" "0000242005" "0" "90" "7" "150648799" "150648799" "subst" "0" "00006" "KCNH2_000021" "g.150648799G>A" "" "{PMID:Splawski 2000:10973849}" "" "C1682T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951711G>A" "" "pathogenic" "" "0000242006" "0" "90" "7" "150648796" "150648796" "subst" "0" "00006" "KCNH2_000893" "g.150648796T>G" "" "{PMID:Tester 2005:15840476}" "" "" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951708T>G" "" "pathogenic" "" "0000242007" "0" "90" "7" "150648790" "150648790" "subst" "0" "00006" "KCNH2_001067" "g.150648790A>G" "" "{PMID:St-Pierre J2000:10744792}" "" "T1691C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951702A>G" "" "pathogenic" "" "0000242008" "0" "90" "7" "150648784" "150648784" "subst" "0" "00006" "KCNH2_001065" "g.150648784C>G" "" "{PMID:Napolitano 2005:16414944}" "" "G1697C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951696C>G" "" "pathogenic" "" "0000242009" "0" "90" "7" "150648780" "150648780" "del" "0" "00006" "KCNH2_001064" "g.150648780del" "" "{PMID:Napolitano 2005:16414944}" "" "1701del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951692del" "" "pathogenic" "" "0000242010" "0" "90" "7" "150648779" "150648779" "subst" "0" "00006" "KCNH2_001063" "g.150648779A>G" "" "{PMID:Napolitano 2005:16414944}" "" "T1702C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951691A>G" "" "pathogenic" "" "0000242011" "0" "90" "7" "150648777" "150648777" "" "0" "00006" "KCNH2_000904" "g.150648777C>R" "" "AHA 2004 meeting abstract" "" "W568C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242012" "0" "90" "7" "150648776" "150648776" "subst" "0" "00006" "KCNH2_000915" "g.150648776A>G" "" "{PMID:Swan 1999:10483966}" "" "Tyr569His" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951688A>G" "" "pathogenic" "" "0000242013" "0" "90" "7" "150648770" "150648770" "subst" "0" "00006" "KCNH2_001061" "g.150648770T>G" "" "{PMID:Tester 2005:15840476}" "" "A1711C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951682T>G" "" "pathogenic" "" "0000242014" "0" "90" "7" "150648770" "150648770" "subst" "0" "00006" "KCNH2_001062" "g.150648770T>C" "" "{PMID:Napolitano 2005:16414944}" "" "A1711G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951682T>C" "" "pathogenic" "" "0000242015" "0" "90" "7" "150648767" "150648767" "subst" "0" "00006" "KCNH2_000841" "g.150648767C>A" "" "{PMID:Splawski 2000:10973849}" "" "G1714T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951679C>A" "" "pathogenic" "" "0000242016" "0" "90" "7" "150648767" "150648767" "subst" "0" "00006" "KCNH2_000674" "g.150648767C>T" "" "{PMID:Tester 2005:15840476}" "" "G1714A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951679C>T" "" "pathogenic" "" "0000242017" "0" "90" "7" "150648767" "150648767" "subst" "0" "00006" "KCNH2_001060" "g.150648767C>G" "" "{PMID:Larsen 2000:10735633}" "" "G1714C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951679C>G" "" "pathogenic" "" "0000242018" "0" "90" "7" "150648766" "150648766" "subst" "0" "00006" "KCNH2_000673" "g.150648766C>T" "" "{PMID:Napolitano 2005:16414944}" "" "G1715A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951678C>T" "" "pathogenic" "" "0000242019" "0" "90" "7" "150648757" "150648757" "subst" "0" "00006" "KCNH2_000905" "g.150648757T>C" "" "AHA 2004 meeting abstract" "" "A1724G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951669T>C" "" "pathogenic" "" "0000242020" "0" "90" "7" "150648737" "150648737" "subst" "0" "00006" "KCNH2_000669" "g.150648737G>A" "" "{PMID:Jongbloed 1999:10220144}" "" "C1744T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951649G>A" "" "pathogenic" "" "0000242021" "0" "90" "7" "150648737" "150648737" "subst" "0" "00006" "KCNH2_000669" "g.150648737G>A" "" "{PMID:Van Langen 2003:12566525}" "" "C1744T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951649G>A" "" "pathogenic" "" "0000242022" "0" "90" "7" "150648736" "150648736" "subst" "0" "00006" "KCNH2_000668" "g.150648736C>A" "" "{PMID:Napolitano 2005:16414944}" "" "G1745T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951648C>A" "" "pathogenic" "" "0000242023" "0" "90" "7" "150648731" "150648731" "subst" "8.12295E-6" "00006" "KCNH2_000665" "g.150648731C>T" "" "{PMID:Swan 1999:10483966}" "" "G1750A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951643C>T" "" "pathogenic" "" "0000242024" "0" "90" "7" "150648731" "150648731" "subst" "8.12295E-6" "00006" "KCNH2_000665" "g.150648731C>T" "" "{PMID:Splawski 2000:10973849}" "" "G1750A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951643C>T" "" "pathogenic" "" "0000242025" "0" "90" "7" "150648726" "150648726" "subst" "0" "00006" "KCNH2_001059" "g.150648726C>A" "" "{PMID:Splawski 2000:10973849}" "" "G1755T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951638C>A" "" "pathogenic" "" "0000242026" "0" "90" "7" "150648719" "150648719" "subst" "0" "00006" "KCNH2_001058" "g.150648719T>C" "" "{PMID:Splawski 2000:10973849}" "" "A1762G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951631T>C" "" "pathogenic" "" "0000242027" "0" "90" "7" "150648703" "150648703" "subst" "0" "00006" "KCNH2_000659" "g.150648703A>G" "" "{PMID:Splawski 2000:10973849}" "" "T1778C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951615A>G" "" "pathogenic" "" "0000242028" "0" "90" "7" "150648703" "150648703" "subst" "0" "00006" "KCNH2_000660" "g.150648703A>C" "" "{PMID:Benson 1996:8635257}" "" "T1778G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951615A>C" "" "pathogenic" "" "0000242029" "0" "90" "7" "150648703" "150648703" "subst" "0" "00006" "KCNH2_000660" "g.150648703A>C" "" "{PMID:Splawski 2000:10973849}" "" "T1778G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951615A>C" "" "pathogenic" "" "0000242030" "0" "90" "7" "150648704" "150648704" "del" "0" "00006" "KCNH2_000920" "g.150648704del" "" "{PMID:Moss 2002:11854117}" "" "593stop" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951616del" "" "pathogenic" "" "0000242031" "0" "90" "7" "150648694" "150648694" "subst" "0" "00006" "KCNH2_000921" "g.150648694G>A" "" "{PMID:Moss 2002:11854117}" "" "P596L" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951606G>A" "" "pathogenic" "" "0000242032" "0" "90" "7" "150648694" "150648694" "subst" "0" "00006" "KCNH2_001057" "g.150648694G>C" "" "{PMID:Tester 2005:15840476}" "" "C1787G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951606G>C" "" "pathogenic" "" "0000242033" "0" "90" "7" "150648680" "150648680" "subst" "0" "00006" "KCNH2_000837" "g.150648680C>T" "" "{PMID:Swan 1999:10483966}" "" "G1801A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951592C>T" "" "pathogenic" "" "0000242034" "0" "90" "7" "150648671" "150648671" "subst" "0" "00006" "KCNH2_000835" "g.150648671C>T" "" "{PMID:Jongbloed 1999:10220144}" "" "G1810A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951583C>T" "" "pathogenic" "" "0000242035" "0" "90" "7" "150648671" "150648671" "subst" "0" "00006" "KCNH2_000835" "g.150648671C>T" "" "{PMID:Splawski 2000:10973849}" "" "G1810A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951583C>T" "" "pathogenic" "" "0000242036" "0" "90" "7" "150648671" "150648671" "subst" "0" "00006" "KCNH2_000835" "g.150648671C>T" "" "{PMID:Lupoglazoff 2004:14998624}" "" "G1810A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951583C>T" "" "pathogenic" "" "0000242037" "0" "90" "7" "150648671" "150648671" "subst" "0" "00006" "KCNH2_000835" "g.150648671C>T" "" "{PMID:Van Langen 2003:12566525}" "" "G1810A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951583C>T" "" "pathogenic" "" "0000242038" "0" "90" "7" "150648671" "150648671" "subst" "0" "00006" "KCNH2_000835" "g.150648671C>T" "" "{PMID:Zang 2006:17171344}" "" "G1810A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951583C>T" "" "pathogenic" "" "0000242039" "0" "90" "7" "150648656" "150648656" "subst" "0" "00006" "KCNH2_000871" "g.150648656C>T" "" "{PMID:Splawski 2000:10973849}" "" "G1825A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951568C>T" "" "pathogenic" "" "0000242040" "0" "90" "7" "150648656" "150648656" "subst" "0" "00006" "KCNH2_000871" "g.150648656C>T" "" "{PMID:Lupoglazoff JM 2001:11222472}" "" "G1825A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951568C>T" "" "pathogenic" "" "0000242041" "0" "90" "7" "150648656" "150648656" "subst" "0" "00006" "KCNH2_001056" "g.150648656C>G" "" "{PMID:Napolitano 2005:16414944}" "" "G1825C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951568C>G" "" "pathogenic" "" "0000242042" "0" "90" "7" "150648655" "150648655" "subst" "0" "00006" "KCNH2_001055" "g.150648655T>C" "" "{PMID:Yamaguchi M 2004:15500450}" "" "A1826G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951567T>C" "" "pathogenic" "" "0000242043" "0" "90" "7" "150648650" "150648650" "subst" "0" "00006" "KCNH2_001054" "g.150648650A>G" "" "{PMID:Tanaka 1997:9024139}" "" "T1831C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951562A>G" "" "pathogenic" "" "0000242044" "0" "90" "7" "150648648" "150648648" "" "0" "00006" "KCNH2_000933" "g.150648648A>Y" "" "{PMID:Schulze-Bahr 1995:7491156}" "" "Tyr611X" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242045" "0" "90" "7" "150648647" "150648647" "subst" "0" "00006" "KCNH2_001053" "g.150648647C>A" "" "{PMID:Satler 1998:9544837}" "" "G1834T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951559C>A" "" "pathogenic" "" "0000242046" "0" "90" "7" "150648643" "150648643" "subst" "0" "00006" "KCNH2_000017" "g.150648643G>A" "" "{PMID:Jongbloed 1999:10220144}" "" "C1838T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951555G>A" "" "pathogenic" "" "0000242047" "0" "90" "7" "150648643" "150648643" "subst" "0" "00006" "KCNH2_000017" "g.150648643G>A" "" "{PMID:Splawski 2000:10973849}" "" "C1838T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951555G>A" "" "pathogenic" "" "0000242048" "0" "90" "7" "150648643" "150648643" "subst" "0" "00006" "KCNH2_000017" "g.150648643G>A" "" "{PMID:Van Langen 2003:12566525}" "" "C1838T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951555G>A" "" "pathogenic" "" "0000242049" "0" "90" "7" "150648643" "150648643" "subst" "0" "00006" "KCNH2_000017" "g.150648643G>A" "" "{PMID:Lupoglazoff 2004:14998624}" "" "C1838T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951555G>A" "" "pathogenic" "" "0000242050" "0" "90" "7" "150648643" "150648643" "subst" "0" "00006" "KCNH2_000017" "g.150648643G>A" "" "{PMID:Choi 2004:15466642}" "" "C1838T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951555G>A" "" "pathogenic" "" "0000242051" "0" "90" "7" "150648640" "150648640" "subst" "0" "00006" "KCNH2_000834" "g.150648640G>A" "" "{PMID:Tanaka 1997:9024139}" "" "C1841T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951552G>A" "" "pathogenic" "" "0000242052" "0" "90" "7" "150648640" "150648640" "subst" "0" "00006" "KCNH2_000834" "g.150648640G>A" "" "{PMID:Satler 1998:9544837}" "" "C1841T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951552G>A" "" "pathogenic" "" "0000242053" "0" "90" "7" "150648640" "150648640" "subst" "0" "00006" "KCNH2_000834" "g.150648640G>A" "" "{PMID:Priori 1999:9927399}" "" "C1841T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951552G>A" "" "pathogenic" "" "0000242054" "0" "90" "7" "150648640" "150648640" "subst" "0" "00006" "KCNH2_000834" "g.150648640G>A" "" "{PMID:Lee-Chen 1999:10560244}" "" "C1841T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951552G>A" "" "pathogenic" "" "0000242055" "0" "90" "7" "150648638" "150648638" "subst" "0" "00006" "KCNH2_001052" "g.150648638G>C" "" "{PMID:Splawski 2000:10973849}" "" "C1843G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951550G>C" "" "pathogenic" "" "0000242056" "0" "90" "7" "150648638" "150648638" "subst" "0" "00006" "KCNH2_000833" "g.150648638G>A" "" "{PMID:Napolitano 2005:16414944}" "" "C1843T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951550G>A" "" "pathogenic" "" "0000242057" "0" "90" "7" "150648619" "150648619" "subst" "0" "00006" "KCNH2_000830" "g.150648619C>T" "" "{PMID:Lupoglazoff JM 2001:11222472}" "" "G1862A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951531C>T" "" "pathogenic" "" "0000242058" "0" "90" "7" "150648619" "150648619" "subst" "0" "00006" "KCNH2_000830" "g.150648619C>T" "" "{PMID:Larsen 2001:11468227}" "" "G1862A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951531C>T" "" "pathogenic" "" "0000242059" "0" "90" "7" "150648619" "150648619" "subst" "0" "00006" "KCNH2_000830" "g.150648619C>T" "" "{PMID:Lupoglazoff 2004:14998624}" "" "G1862A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951531C>T" "" "pathogenic" "" "0000242060" "0" "90" "7" "150648618" "150648618" "subst" "0" "00006" "KCNH2_001051" "g.150648618G>C" "" "{PMID:Napolitano 2005:16414944}" "" "C1863G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951530G>C" "" "pathogenic" "" "0000242061" "0" "90" "7" "150648617" "150648617" "subst" "0" "00006" "KCNH2_000829" "g.150648617G>A" "" "{PMID:Tester 2005:15840476}" "" "C1864T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951529G>A" "" "pathogenic" "" "0000242062" "0" "90" "7" "150648613" "150648613" "subst" "0" "00006" "KCNH2_000827" "g.150648613G>A" "" "{PMID:Tester 2005:15840476}" "" "C1868T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951525G>A" "" "pathogenic" "" "0000242063" "0" "90" "7" "150648607" "150648607" "subst" "0" "00006" "KCNH2_000826" "g.150648607A>T" "" "{PMID:Van Langen 2003:12566525}" "" "T1874A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951519A>T" "" "pathogenic" "" "0000242064" "0" "90" "7" "150648605" "150648605" "subst" "0" "00006" "KCNH2_001050" "g.150648605C>T" "" "{PMID:Splawski 2000:10973849}" "" "G1876A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951517C>T" "" "pathogenic" "" "0000242065" "0" "90" "7" "150648605" "150648605" "subst" "0" "00006" "KCNH2_001050" "g.150648605C>T" "" "{PMID:Jahr 2000:10862104}" "" "G1876A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951517C>T" "" "pathogenic" "" "0000242066" "0" "90" "7" "150648604" "150648604" "subst" "0" "00006" "KCNH2_001049" "g.150648604C>G" "" "{PMID:Napolitano 2005:16414944}" "" "G1877C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951516C>G" "" "pathogenic" "" "0000242067" "0" "90" "7" "150648599" "150648599" "subst" "0" "00006" "KCNH2_001048" "g.150648599G>C" "" "{PMID:Splawski 2000:10973849}" "" "C1882G" "{cardmoc:hergmut} (variantchecker): C not found at position 2283, found G instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242068" "0" "90" "7" "150648598" "150648598" "subst" "0" "00006" "KCNH2_001047" "g.150648598C>A" "" "{PMID:Tester 2005:15840476}" "" "G1883T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951510C>A" "" "pathogenic" "" "0000242069" "0" "90" "7" "150648599" "150648599" "subst" "0" "00006" "KCNH2_000825" "g.150648599C>T" "" "{PMID:Curran 1995:7889573}" "" "" "{cardmoc:hergmut}" "De novo" "" "" "0" "" "" "g.150951511C>T" "" "pathogenic" "" "0000242070" "0" "90" "7" "150648599" "150648599" "subst" "0" "00006" "KCNH2_000825" "g.150648599C>T" "" "{PMID:Splawski 2000:10973849}" "" "G1882A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951511C>T" "" "pathogenic" "" "0000242071" "0" "90" "7" "150648599" "150648599" "subst" "0" "00006" "KCNH2_000825" "g.150648599C>T" "" "{PMID:Lupoglazoff 2004:14998624}" "" "G1882A" "{cardmoc:hergmut}" "De novo" "" "" "0" "" "" "g.150951511C>T" "" "pathogenic" "" "0000242072" "0" "90" "7" "150648596" "150648596" "subst" "0" "00006" "KCNH2_001046" "g.150648596T>C" "" "{PMID:Satler 1998:9544837}" "" "A1885G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951508T>C" "" "pathogenic" "" "0000242073" "0" "90" "7" "150648596" "150648596" "subst" "0" "00006" "KCNH2_001046" "g.150648596T>C" "" "{PMID:Lees-Miller 2000:10720411}" "" "A1885G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951508T>C" "" "pathogenic" "" "0000242074" "0" "90" "7" "150648595" "150648595" "subst" "0" "00006" "KCNH2_000824" "g.150648595T>C" "" "{PMID:Satler 1998:9544837}" "" "A1886G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951507T>C" "" "pathogenic" "" "0000242075" "0" "90" "7" "150648594" "150648594" "subst" "0" "00006" "KCNH2_001045" "g.150648594G>T" "" "{PMID:Yoshida 1999:10517660}" "" "C1887A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951506G>T" "" "pathogenic" "" "0000242076" "0" "90" "7" "150648593" "150648593" "subst" "0" "00006" "KCNH2_001044" "g.150648593C>G" "" "{PMID:Tanaka 1997:9024139}" "" "G1888C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951505C>G" "" "pathogenic" "" "0000242077" "0" "90" "7" "150648592" "150648592" "subst" "0" "00006" "KCNH2_001043" "g.150648592A>G" "" "{PMID:Splawski 1998:9693036}" "" "T1889C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951504A>G" "" "pathogenic" "" "0000242078" "0" "90" "7" "150648587" "150648587" "subst" "0" "00006" "KCNH2_001042" "g.150648587G>A" "" "{PMID:Splawski 2000:10973849}" "" "C1894T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951499G>A" "" "pathogenic" "" "0000242079" "0" "90" "7" "150648584" "150648584" "subst" "0" "00006" "KCNH2_001041" "g.150648584T>C" "" "{PMID:Lai 2005:16155735}" "" "A1897G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951496T>C" "" "pathogenic" "" "0000242080" "0" "90" "7" "150648583" "150648583" "subst" "0" "00006" "KCNH2_000823" "g.150648583T>C" "" "{PMID:Satler 1998:9544837}" "" "A1898G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951495T>C" "" "pathogenic" "" "0000242081" "0" "90" "7" "150648577" "150648577" "subst" "0" "00006" "KCNH2_001040" "g.150648577T>A" "" "{PMID:Tester 2005:15840476}" "" "A1904T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951489T>A" "" "pathogenic" "" "0000242082" "0" "90" "7" "150648572" "150648572" "subst" "0" "00006" "KCNH2_001039" "g.150648572C>T" "" "{PMID:Hayashi 2002:12062363}" "" "G1909A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951484C>T" "" "pathogenic" "" "0000242083" "0" "90" "7" "150648570" "150648570" "subst" "0" "00006" "KCNH2_001038" "g.150648570C>G" "" "{PMID:Napolitano 2005:16414944}" "" "G1911C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951482C>G" "" "pathogenic" "" "0000242084" "0" "90" "7" "150648569" "150648569" "subst" "0" "00006" "KCNH2_000820" "g.150648569T>C" "" "{PMID:Splawski 2000:10973849}" "" "A1912G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951481T>C" "" "pathogenic" "" "0000242085" "0" "90" "7" "150648569" "150648571" "del" "0" "00006" "KCNH2_000819" "g.150648569_150648571del" "" "{PMID:Splawski 2000:10973849}" "" "1913_1915del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951481_150951483del" "" "pathogenic" "" "0000242086" "0" "90" "7" "150648563" "150648563" "subst" "0" "00006" "KCNH2_000896" "g.150648563A>C" "" "{PMID:Tester 2005:15840476}" "" "" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951475A>C" "" "pathogenic" "" "0000242087" "0" "90" "7" "150648561" "150648561" "subst" "0" "00006" "KCNH2_000910" "g.150648561G>T" "" "{PMID:Jongbloed 1999:10220144}" "" "C1920A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951473G>T" "" "pathogenic" "" "0000242088" "0" "90" "7" "150648561" "150648561" "subst" "0" "00006" "KCNH2_000910" "g.150648561G>T" "" "{PMID:Van Langen 2003:12566525}" "" "C1920A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951473G>T" "" "pathogenic" "" "0000242089" "0" "90" "7" "150648559" "150648559" "subst" "0" "00006" "KCNH2_000817" "g.150648559G>A" "" "{PMID:Tester 2005:15840476}" "" "C1922T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951471G>A" "" "pathogenic" "" "0000242090" "0" "90" "7" "150648551" "150648551" "subst" "0" "00006" "KCNH2_000816" "g.150648551C>A" "" "{PMID:Napolitano 2005:16414944}" "" "G1930T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951463C>A" "" "pathogenic" "" "0000242091" "0" "90" "7" "150648548" "150648548" "subst" "0" "00006" "KCNH2_000911" "g.150648548T>A" "" "{PMID:Splawski 2000:10973849}" "" "A1933T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951460T>A" "" "pathogenic" "" "0000242092" "0" "90" "7" "150648548" "150648548" "subst" "0" "00006" "KCNH2_000911" "g.150648548T>A" "" "{PMID:Van Langen 2003:12566525}" "" "A1933T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951460T>A" "" "pathogenic" "" "0000242093" "0" "90" "7" "150648548" "150648548" "subst" "0" "00006" "KCNH2_000916" "g.150648548T>C" "" "{PMID:Lupoglazoff 2004:14998624}" "" "A1933G" "{cardmoc:hergmut}" "De novo" "" "" "0" "" "" "g.150951460T>C" "" "pathogenic" "" "0000242094" "1" "90" "7" "150648530" "150648530" "subst" "0" "00006" "KCNH2_000932" "g.150648530A>G" "" "{PMID:Zhang 2004:15364333}" "" "T1945+6C" "expressing cloning shows effect on splicing" "Germline" "yes" "" "0" "" "" "g.150951442A>G" "" "pathogenic" "" "0000242095" "0" "90" "7" "150648202" "150648203" "del" "0" "00006" "KCNH2_001037" "g.150648202_150648203del" "" "{PMID:Itoh T 1998:9600240}" "" "AT1951_1952del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951114_150951115del" "" "pathogenic" "" "0000242096" "0" "90" "7" "150648208" "150648208" "subst" "0" "00006" "KCNH2_000912" "g.150648208G>A" "" "{PMID:Van Langen 2003:12566525}" "" "S649L" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951120G>A" "" "pathogenic" "" "0000242097" "0" "90" "7" "150648187" "150648187" "subst" "0" "00006" "KCNH2_001036" "g.150648187A>C" "" "{PMID:Napolitano 2005:16414944}" "" "T1967G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951099A>C" "" "pathogenic" "" "0000242098" "0" "90" "7" "150648175" "150648175" "subst" "0" "00006" "KCNH2_001035" "g.150648175G>A" "" "{PMID:Napolitano 2005:16414944}" "" "C1979T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951087G>A" "" "pathogenic" "" "0000242099" "21" "90" "7" "150648153" "150648153" "subst" "0" "00006" "KCNH2_000929" "g.150648153G>T" "" "{PMID:Paulussen 2000:10790218}" "" "" "" "Germline" "" "" "0" "" "" "g.150951065G>T" "" "pathogenic" "" "0000242100" "0" "90" "7" "150648133" "150648147" "del" "0" "00006" "KCNH2_001034" "g.150648133_150648147del" "" "{PMID:Tester 2005:15840476}" "" "2011_2025del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951045_150951059del" "" "pathogenic" "" "0000242101" "0" "90" "7" "150648110" "150648110" "subst" "0" "00006" "KCNH2_001033" "g.150648110C>A" "" "{PMID:Splawski 2000:10973849}" "" "G2044T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951022C>A" "" "pathogenic" "" "0000242102" "0" "90" "7" "150648068" "150648068" "subst" "0" "00006" "KCNH2_001032" "g.150648068G>A" "" "{PMID:Millat 2006(1):16922724}" "" "C2086T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950980G>A" "" "pathogenic" "" "0000242103" "0" "90" "7" "150648067" "150648067" "subst" "0" "00006" "KCNH2_001031" "g.150648067C>G" "" "{PMID:Napolitano 2005:16414944}" "" "G2087C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950979C>G" "" "pathogenic" "" "0000242104" "0" "90" "7" "150648062" "150648062" "subst" "0" "00006" "KCNH2_000859" "g.150648062C>A" "" "{PMID:Jongbloed 2002:12402336}" "" "G2092T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950974C>A" "" "pathogenic" "" "0000242105" "0" "90" "7" "150648062" "150648062" "subst" "0" "00006" "KCNH2_000859" "g.150648062C>A" "" "{PMID:Van Langen 2003:12566525}" "" "G2092T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950974C>A" "" "pathogenic" "" "0000242106" "0" "90" "7" "150648040" "150648040" "subst" "0" "00006" "KCNH2_001030" "g.150648040C>T" "" "{PMID:Millat 2006(1):16922724}" "" "G2114A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950952C>T" "" "pathogenic" "" "0000242107" "0" "90" "7" "150648037" "150648037" "subst" "0" "00006" "KCNH2_001029" "g.150648037G>C" "" "{PMID:Kobori 2004:15028050}" "" "C2117G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950949G>C" "" "pathogenic" "" "0000242108" "0" "90" "7" "150648009" "150648009" "subst" "4.06296E-6" "00006" "KCNH2_000897" "g.150648009C>T" "" "{PMID:Tester 2005:15840476}" "" "" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950921C>T" "" "pathogenic" "" "0000242109" "1" "90" "7" "150647519" "150647529" "del" "0" "00006" "KCNH2_000934" "g.150647519_150647529del" "" "{PMID:Shang 2005:15973763}" "" "IVS8-11>-2del" "{cardmoc:hergmut}" "Germline" "yes" "" "0" "" "" "g.150950431_150950441del" "" "pathogenic" "" "0000242110" "0" "90" "7" "150647492" "150647492" "subst" "0" "00006" "KCNH2_000854" "g.150647492G>A" "" "{PMID:Tester 2005:15840476}" "" "C2162T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950404G>A" "" "pathogenic" "" "0000242111" "0" "90" "7" "150647473" "150647490" "dup" "0" "00006" "KCNH2_001024" "g.150647473_150647490dup" "" "{PMID:Napolitano 2005:16414944}" "" "2164_2181dup" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950385_150950402dup" "" "pathogenic" "" "0000242112" "0" "90" "7" "150647481" "150647481" "subst" "0" "00006" "KCNH2_001025" "g.150647481G>A" "" "{PMID:Itoh T 1998:9600240}" "" "C2173T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950393G>A" "" "pathogenic" "" "0000242113" "0" "90" "7" "150647450" "150647450" "subst" "4.10125E-6" "00006" "KCNH2_001023" "g.150647450G>A" "" "{PMID:Shim 2005:16379539}" "" "C2204T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950362G>A" "" "pathogenic" "" "0000242114" "0" "90" "7" "150647436" "150647436" "dup" "0" "00006" "KCNH2_000949" "g.150647436dup" "" "{PMID:Splawski 2000:10973849}" "" "insT2218–2219" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950348dup" "" "pathogenic" "" "0000242115" "0" "90" "7" "150647423" "150647423" "del" "0" "00006" "KCNH2_001022" "g.150647423del" "" "{PMID:Napolitano 2005:16414944}" "" "2231del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950335del" "" "pathogenic" "" "0000242116" "0" "90" "7" "150647424" "150647424" "subst" "0" "00006" "KCNH2_000922" "g.150647424G>A" "" "{PMID:Moss 2002:11854117}" "" "R744X" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950336G>A" "" "pathogenic" "" "0000242117" "0" "90" "7" "150647400" "150647400" "subst" "0" "00006" "KCNH2_000811" "g.150647400G>A" "" "{PMID:Splawski 2000:10973849}" "" "C2254T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950312G>A" "" "pathogenic" "" "0000242118" "0" "90" "7" "150647400" "150647400" "subst" "0" "00006" "KCNH2_000811" "g.150647400G>A" "" "{PMID:Ficker 2000:11009462}" "" "C2254T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950312G>A" "" "pathogenic" "" "0000242119" "0" "90" "7" "150647400" "150647400" "subst" "0" "00006" "KCNH2_001021" "g.150647400C>T" "" "{PMID:Johnson 2003:12621127}" "" "G2254A" "{cardmoc:hergmut} (variantchecker): G not found at position 2655, found C instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242120" "0" "90" "7" "150647334" "150647334" "subst" "0" "00006" "KCNH2_001020" "g.150647334C>A" "" "{PMID:Tester 2005:15840476}" "" "G2320T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950246C>A" "" "pathogenic" "" "0000242121" "0" "90" "7" "150647304" "150647304" "subst" "4.06765E-6" "00006" "KCNH2_001019" "g.150647304G>A" "" "{PMID:Yang 2002:};http://circ.ahajournals.org/cgi/content/abstract/105/16/1943" "" "C2350T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950216G>A" "" "pathogenic" "" "0000242122" "0" "90" "7" "150655312" "150655312" "del" "0" "00006" "KCNH2_000909" "g.150655312del" "" "{PMID:Van Langen 2003:12566525}" "" "P251 fs/107" "" "Germline" "" "" "0" "" "" "g.150958224del" "" "pathogenic" "" "0000242123" "0" "90" "7" "150647290" "150647290" "subst" "0" "00006" "KCNH2_001018" "g.150647290C>G" "" "{PMID:Tester 2005:15840476}" "" "G2364C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950202C>G" "" "pathogenic" "" "0000242124" "0" "90" "7" "150647268" "150647298" "dup" "0" "00006" "KCNH2_001017" "g.150647268_150647298dup" "" "{PMID:Itoh T 1998:9600240}" "" "2356_2386dup" "{cardmoc:hergmut} (variantchecker): Sequence \"TCCATC [19bp] TCGTCG\" at position 2757_2787 was given, however, the HGVS notation prescribes that on the forward strand it should be \"CCATCG [19bp] CGTCGT\" at position 2758_2788." "Germline" "" "" "0" "" "" "g.150950180_150950210dup" "" "pathogenic" "" "0000242125" "0" "90" "7" "150647260" "150647260" "del" "0" "00006" "KCNH2_001016" "g.150647260del" "" "{PMID:Splawski 2000:10973849}" "" "2395del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950172del" "" "pathogenic" "" "0000242126" "0" "90" "7" "150647253" "150647253" "subst" "0" "00006" "KCNH2_000947" "g.150647253T>C" "" "{PMID:Napolitano 2005:16414944}" "" "G2398+3A>G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950165T>C" "" "pathogenic" "" "0000242127" "0" "90" "7" "150647253" "150647253" "subst" "0" "00006" "KCNH2_000948" "g.150647253T>A" "" "{PMID:Napolitano 2005:16414944}" "" "G2398+3A>T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950165T>A" "" "pathogenic" "" "0000242128" "0" "90" "7" "150647256" "150647256" "subst" "0" "00006" "KCNH2_001015" "g.150647256C>A" "" "{PMID:Napolitano 2005:16414944}" "" "G2398T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950168C>A" "" "pathogenic" "" "0000242129" "0" "90" "7" "150647255" "150647255" "subst" "0" "00006" "KCNH2_000901" "g.150647255C>G" "" "{PMID:Curran 1995:7889573}" "" "" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950167C>G" "" "pathogenic" "" "0000242130" "0" "90" "7" "150647255" "150647255" "subst" "0" "00006" "KCNH2_000901" "g.150647255C>G" "" "{PMID:Tester 2005:15840476}" "" "2398+1G>C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950167C>G" "" "pathogenic" "" "0000242131" "0" "90" "7" "150646122" "150646122" "subst" "0" "00006" "KCNH2_001012" "g.150646122A>G" "" "{PMID:Splawski 2000:10973849}" "" "T2414C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150949034A>G" "" "pathogenic" "" "0000242132" "0" "90" "7" "150646122" "150646122" "subst" "0" "00006" "KCNH2_001013" "g.150646122A>C" "" "{PMID:Splawski 2000:10973849}" "" "T2414G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150949034A>C" "" "pathogenic" "" "0000242133" "0" "90" "7" "150646084" "150646084" "subst" "0" "00006" "KCNH2_001011" "g.150646084A>G" "" "{PMID:Napolitano 2005:16414944}" "" "T2452C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948996A>G" "" "pathogenic" "" "0000242134" "0" "90" "7" "150646083" "150646083" "subst" "4.06098E-6" "00006" "KCNH2_000802" "g.150646083G>A" "" "{PMID:Berthet 1999:10086971}" "" "C2453T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948995G>A" "" "pathogenic" "" "0000242135" "0" "90" "7" "150646083" "150646083" "subst" "4.06098E-6" "00006" "KCNH2_000802" "g.150646083G>A" "" "{PMID:Nakajima 2000:10996323}" "" "C2453T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948995G>A" "" "pathogenic" "" "0000242136" "0" "90" "7" "150646078" "150646078" "subst" "1.21836E-5" "00006" "KCNH2_001010" "g.150646078C>T" "" "{PMID:Tester 2005:15840476}" "" "G2458A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948990C>T" "" "pathogenic" "" "0000242137" "0" "90" "7" "150646072" "150646072" "subst" "0" "00006" "KCNH2_000801" "g.150646072C>T" "" "{PMID:Satler 1996:9544837}" "" "G2464A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948984C>T" "" "pathogenic" "" "0000242138" "0" "90" "7" "150646072" "150646072" "subst" "0" "00006" "KCNH2_000801" "g.150646072C>T" "" "{PMID:Berthet 1999:10086971}" "" "G2464A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948984C>T" "" "pathogenic" "" "0000242139" "0" "90" "7" "150646065" "150646065" "dup" "0" "00006" "KCNH2_000941" "g.150646065dup" "" "{PMID:Jongbloed 2002:12402336}" "" "2471insG" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948977dup" "" "pathogenic" "" "0000242140" "0" "90" "7" "150646069" "150646069" "subst" "4.06095E-6" "00006" "KCNH2_000800" "g.150646069G>A" "" "{PMID:Splawski 2000:10973849}" "" "C2467T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948981G>A" "" "pathogenic" "" "0000242141" "0" "90" "7" "150646042" "150646042" "subst" "0" "00006" "KCNH2_001009" "g.150646042T>A" "" "{PMID:Napolitano 2005:16414944}" "" "A2494T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948954T>A" "" "pathogenic" "" "0000242143" "0" "90" "7" "150646026" "150646026" "subst" "0" "00006" "KCNH2_001008" "g.150646026T>C" "" "{PMID:Tester 2005:15840476}" "" "A2510G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948938T>C" "" "pathogenic" "" "0000242144" "0" "90" "7" "150645955" "150645955" "subst" "0" "00006" "KCNH2_001007" "g.150645955T>G" "" "{PMID:Napolitano 2005:16414944}" "" "A2581C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948867T>G" "" "pathogenic" "" "0000242145" "0" "90" "7" "150645954" "150645954" "subst" "0" "00006" "KCNH2_001006" "g.150645954T>A" "" "{PMID:Splawski 2000:10973849}" "" "A2582T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948866T>A" "" "pathogenic" "" "0000242146" "0" "90" "7" "150645949" "150645949" "subst" "4.06332E-6" "00006" "KCNH2_000687" "g.150645949G>A" "" "{PMID:Van Langen 2003:12566525}" "" "C2587T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948861G>A" "" "pathogenic" "" "0000242147" "0" "90" "7" "150645943" "150645943" "subst" "0" "00006" "KCNH2_000950" "g.150645943C>T" "" "{PMID:Berthet 1999:10086971}" "" "G2592+1A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948855C>T" "" "pathogenic" "" "0000242148" "0" "90" "7" "150648619" "150648619" "subst" "0" "00006" "KCNH2_000830" "g.150648619C>T" "" "{PMID:Lupoglazoff JM 2001:11222472}" "" "" "" "Germline" "" "" "0" "" "" "g.150951531C>T" "" "pathogenic" "" "0000242149" "0" "90" "7" "150645943" "150645943" "subst" "0" "00006" "KCNH2_000950" "g.150645943C>T" "" "{PMID:Splawski 2000:10973849}" "" "G2592+1A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948855C>T" "" "pathogenic" "" "0000242150" "0" "90" "7" "150645941" "150645941" "subst" "4.06464E-6" "00006" "KCNH2_000900" "g.150645941C>T" "" "{PMID:Tester 2005:15840476}" "" "2592+3G>A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948853C>T" "" "pathogenic" "" "0000242151" "0" "90" "7" "150645564" "150645564" "del" "0" "00006" "KCNH2_001000" "g.150645564del" "" "{PMID:Splawski 2000:10973849}" "" "2660del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948476del" "" "pathogenic" "" "0000242152" "0" "90" "7" "150645612" "150645612" "del" "0" "00006" "KCNH2_000684" "g.150645612del" "" "{PMID:Jongbloed 2002:12402336}" "" "2616delC" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948524del" "" "pathogenic" "" "0000242153" "0" "90" "7" "150645612" "150645612" "del" "0" "00006" "KCNH2_000684" "g.150645612del" "" "{PMID:Van Langen 2003:12566525}" "" "P872 fs/4" "" "Germline" "" "" "0" "" "" "g.150948524del" "" "pathogenic" "" "0000242154" "0" "90" "7" "150645598" "150645605" "dup" "0" "00006" "KCNH2_001003" "g.150645598_150645605dup8" "" "{PMID:Millat 2006(1):16922724}" "" "2619_2626dup8" "{cardmoc:hergmut}\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 38: expected EOF). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242155" "0" "90" "7" "150645598" "150645598" "subst" "0" "00006" "KCNH2_001002" "g.150645598C>A" "" "{PMID:Tester 2005:15840476}" "" "G2626T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948510C>A" "" "pathogenic" "" "0000242156" "0" "90" "7" "150645576" "150645586" "del" "0" "00006" "KCNH2_001001" "g.150645576_150645586del" "" "{PMID:Napolitano 2005:16414944}" "" "2638_2648del" "{cardmoc:hergmut} (variantchecker): Sequence \"GGCTTCAGTCG\" at position 3039_3049 was given, however, the HGVS notation prescribes that on the forward strand it should be \"GCTTCAGTCGG\" at position 3040_3050." "Germline" "" "" "0" "" "" "g.150948488_150948498del" "" "pathogenic" "" "0000242158" "0" "90" "7" "150645564" "150645564" "subst" "8.20823E-6" "00006" "KCNH2_000048" "g.150645564C>T" "" "{PMID:Tester 2005:15840476}" "" "G2660A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948476C>T" "" "pathogenic" "" "0000242159" "0" "90" "7" "150645542" "150645548" "del" "0" "00006" "KCNH2_000999" "g.150645542_150645548del" "" "{PMID:Napolitano 2005:16414944}" "" "2676_2682del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948454_150948460del" "" "pathogenic" "" "0000242160" "0" "90" "7" "150644955" "150644955" "del" "0" "00006" "KCNH2_000898" "g.150644955del" "" "{PMID:Tester 2005:15840476}" "" "2705delC" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947867del" "" "pathogenic" "" "0000242161" "0" "90" "7" "150644901" "150644935" "del" "0" "00006" "KCNH2_000994" "g.150644901_150644935del" "" "{PMID:Tester 2005:15840476}" "" "2728_2762del" "{cardmoc:hergmut} (variantchecker): Sequence \"CCGGGC [23bp] CCGGGG\" at position 3129_3163 was given, however, the HGVS notation prescribes that on the forward strand it should be \"GCCGGG [23bp] GGCCGG\" at position 3133_3167." "Germline" "" "" "0" "" "" "g.150947813_150947847del" "" "pathogenic" "" "0000242162" "0" "90" "7" "150644921" "150644921" "subst" "0" "00006" "KCNH2_000997" "g.150644921G>A" "" "{PMID:Tester 2005:15840476}" "" "C2738T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947833G>A" "" "pathogenic" "" "0000242163" "0" "90" "7" "150644923" "150644924" "ins" "0" "00006" "KCNH2_000996" "g.150644923_150644924insGGCC" "" "{PMID:Napolitano 2005:16414944}" "" "2738_2739insCGGC" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947835_150947836insGGCC" "" "pathogenic" "" "0000242164" "0" "90" "7" "150644887" "150644920" "del" "0" "00006" "KCNH2_000989" "g.150644887_150644920del" "" "{PMID:Millat 2006(1):16922724}" "" "2742_2775del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947799_150947832del" "" "pathogenic" "" "0000242165" "0" "90" "7" "150644909" "150644909" "subst" "0" "00006" "KCNH2_000931" "g.150644909G>A" "" "{PMID:Splawski 2000:10973849}" "" "C2750T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947821G>A" "" "pathogenic" "" "0000242166" "0" "90" "7" "150644900" "150644900" "del" "0" "00006" "KCNH2_000993" "g.150644900del" "" "{PMID:Splawski 2000:10973849}" "" "2762del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947812del" "" "pathogenic" "" "0000242167" "0" "90" "7" "150644895" "150644895" "subst" "0" "00006" "KCNH2_000992" "g.150644895G>A" "" "{PMID:Splawski 2000:10973849}" "" "C2764T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947807G>A" "" "pathogenic" "" "0000242168" "0" "90" "7" "150644894" "150644894" "del" "0" "00006" "KCNH2_000899" "g.150644894del" "" "{PMID:Tester 2005:15840476}" "" "2766delG" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947806del" "" "pathogenic" "" "0000242169" "0" "90" "7" "150644892" "150644892" "del" "0" "00006" "KCNH2_000991" "g.150644892del" "" "{PMID:Lai 2005:16155735}" "" "2768delC" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947804del" "" "pathogenic" "" "0000242170" "0" "90" "7" "150644890" "150644890" "dup" "0" "00006" "KCNH2_000676" "g.150644890dup" "" "{PMID:Splawski 2000:10973849}" "" "insG2775–2776" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947802dup" "" "pathogenic" "" "0000242171" "0" "90" "7" "150644890" "150644890" "del" "0" "00006" "KCNH2_000675" "g.150644890del" "" "{PMID:Napolitano 2005:16414944}" "" "2775del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947802del" "" "pathogenic" "" "0000242172" "0" "90" "7" "150644878" "150644878" "subst" "0" "00006" "KCNH2_000988" "g.150644878C>T" "" "{PMID:Napolitano 2005:16414944}" "" "G2781A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947790C>T" "" "pathogenic" "" "0000242173" "0" "90" "7" "150644818" "150644818" "subst" "0" "00006" "KCNH2_000986" "g.150644818G>A" "" "{PMID:Millat 2006:16922724}" "" "C2841T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947730G>A" "" "pathogenic" "" "0000242175" "0" "90" "7" "150648777" "150648777" "subst" "0" "00006" "KCNH2_000906" "g.150648777C>A" "" "{PMID:Lupoglazoff JM 2001:11222472}" "" "" "" "Germline" "" "" "0" "" "" "g.150951689C>A" "" "pathogenic" "" "0000242176" "0" "90" "7" "150644758" "150644768" "del" "0" "00006" "KCNH2_000983" "g.150644758_150644768del" "" "{PMID:Napolitano 2005:16414944}" "" "2895_2905del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947670_150947680del" "" "pathogenic" "" "0000242177" "0" "90" "7" "150644756" "150644756" "subst" "3.50247E-5" "00006" "KCNH2_000036" "g.150644756G>A" "" "{PMID:Napolitano 2005:16414944}" "" "C2903T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947668G>A" "" "pathogenic" "" "0000242178" "0" "90" "7" "150644755" "150644755" "del" "0" "00006" "KCNH2_000982" "g.150644755del" "" "{PMID:Splawski 2000:10973849}" "" "2906del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947667del" "" "pathogenic" "" "0000242179" "0" "90" "7" "150644704" "150644704" "del" "0" "00006" "KCNH2_000980" "g.150644704del" "" "{PMID:Splawski 2000:10973849}" "" "2959del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947616del" "" "pathogenic" "" "0000242180" "0" "90" "7" "150644565" "150644566" "" "0" "00006" "KCNH2_000923" "g.(150644565_150644566)C>T" "" "{PMID:Moss 2002:11854117}" "" "W1001X" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242181" "0" "90" "7" "150644528" "150644528" "subst" "0" "00006" "KCNH2_000704" "g.150644528G>A" "" "{PMID:Splawski 2000:10973849}" "" "C3040T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947440G>A" "" "pathogenic" "" "0000242182" "0" "90" "7" "150644523" "150644523" "subst" "0" "00006" "KCNH2_000977" "g.150644523G>T" "" "{PMID:Napolitano 2005:16414944}" "" "C3045A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947435G>T" "" "pathogenic" "" "0000242183" "0" "90" "7" "150644468" "150644481" "del" "0" "00006" "KCNH2_000696" "g.150644468_150644481del" "" "{PMID:Napolitano 2005:16414944}" "" "3093_3106del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947380_150947393del" "" "pathogenic" "" "0000242184" "0" "90" "7" "150644469" "150644474" "delins" "0" "00006" "KCNH2_000974" "g.150644469_150644474delinsGCGA" "" "{PMID:Napolitano 2005:16414944}" "" "3093_3099delinsTTCGC" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947381_150947386delinsGCGA" "" "pathogenic" "" "0000242185" "0" "90" "7" "150644474" "150644474" "del" "0" "00006" "KCNH2_000975" "g.150644474del" "" "{PMID:Splawski 2000:10973849}" "" "3094del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947386del" "" "pathogenic" "" "0000242186" "0" "90" "7" "150644458" "150644474" "del" "0" "00006" "KCNH2_000966" "g.150644458_150644474del" "" "{PMID:Millat 2006(1):16922724}" "" "3096_3112del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947370_150947386del" "" "pathogenic" "" "0000242187" "0" "90" "7" "150644470" "150644470" "del" "0" "00006" "KCNH2_000972" "g.150644470del" "" "{PMID:Napolitano 2005:16414944}" "" "3099del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947382del" "" "pathogenic" "" "0000242188" "0" "90" "7" "150644468" "150644468" "del" "0" "00006" "KCNH2_000971" "g.150644468del" "" "{PMID:Napolitano 2005:16414944}" "" "3100del" "{cardmoc:hergmut} (variantchecker): Sequence \"C\" at position 3501 was given, however, the HGVS notation prescribes that on the forward strand it should be \"C\" at position 3504." "Germline" "" "" "0" "" "" "g.150947380del" "" "pathogenic" "" "0000242189" "0" "90" "7" "150644464" "150644464" "dup" "0" "00006" "KCNH2_000695" "g.150644464dup" "" "{PMID:Berthet 1999:10086971}" "" "insG3108" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947376dup" "" "pathogenic" "" "0000242190" "0" "90" "7" "150648757" "150648757" "subst" "0" "00006" "KCNH2_000905" "g.150648757T>C" "" "{PMID:Lupoglazoff JM 2001:11222472}" "" "" "" "Germline" "" "" "0" "" "" "g.150951669T>C" "" "pathogenic" "" "0000242191" "0" "90" "7" "150644460" "150644463" "dup" "0" "00006" "KCNH2_000967" "g.150644460_150644463dup" "" "{PMID:Millat 2006:16922724}" "" "3106_3109dup" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947372_150947375dup" "" "pathogenic" "" "0000242193" "0" "90" "7" "150644141" "150644141" "del" "0" "00006" "KCNH2_000964" "g.150644141del" "" "{PMID:Napolitano 2005:16414944}" "" "3154del" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947053del" "" "pathogenic" "" "0000242194" "0" "90" "7" "150643995" "150643995" "dup" "0" "00006" "KCNH2_000946" "g.150643995dup" "" "{PMID:Splawski 2000:10973849}" "" "insC3303–3304" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150946907dup" "" "pathogenic" "" "0000242195" "0" "90" "7" "150643995" "150643995" "dup" "0" "00006" "KCNH2_000946" "g.150643995dup" "" "{PMID:Napolitano 2005:16414944}" "" "3304insC" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150946907dup" "" "pathogenic" "" "0000242196" "0" "90" "7" "150642536" "150642537" "del" "0" "00006" "KCNH2_000957" "g.150642536_150642537del" "" "{PMID:Napolitano 2005:16414944}" "" "3397_3398del" "{cardmoc:hergmut} (variantchecker): Sequence \"AC\" at position 3798_3799 was given, however, the HGVS notation prescribes that on the forward strand it should be \"AC\" at position 3800_3801." "Germline" "" "" "0" "" "" "g.150945448_150945449del" "" "pathogenic" "" "0000242197" "0" "90" "7" "150642476" "150642476" "subst" "5.44965E-5" "00006" "KCNH2_000956" "g.150642476G>A" "" "{PMID:Napolitano 2005:16414944}" "" "C3457T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150945388G>A" "" "pathogenic" "" "0000242198" "0" "10" "7" "150671772" "150671772" "subst" "0.00156556" "00006" "KCNH2_000936" "g.150671772C>G" "" "{PMID:Jongbloed 2002:12402336}" "" "IVS2+27G>C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974684C>G" "" "benign" "" "0000242199" "0" "10" "7" "150672008" "150672008" "subst" "0" "00006" "KCNH2_001153" "g.150672008T>G" "" "{PMID:Ackerman 2003:14661677}" "" "A98C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150974920T>G" "" "benign" "" "0000242200" "0" "10" "7" "150655624" "150655624" "subst" "0.375887" "00006" "KCNH2_000152" "g.150655624T>C" "" "{PMID:Tester 2006:16818214}" "" "473-34A>G" "{cardmoc:hergmut} (variantchecker): Intronic position given for a non-genomic reference sequence." "Germline" "" "" "0" "" "" "g.150958536T>C" "" "benign" "" "0000242201" "0" "10" "7" "150655537" "150655537" "subst" "0.000327217" "00006" "KCNH2_000132" "g.150655537G>A" "" "{PMID:Ackerman 2003:14661677}" "" "C526T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958449G>A" "" "benign" "" "0000242202" "0" "10" "7" "150655537" "150655537" "subst" "0.000327217" "00006" "KCNH2_000132" "g.150655537G>A" "" "{PMID:Mank-Seymour 2006:17161064}" "" "C526T" "{cardmoc:hergmut}" "Germline" "" "rs36210422" "0" "" "" "g.150958449G>A" "" "benign" "" "0000242203" "0" "10" "7" "150655521" "150655521" "subst" "0.00020074" "00006" "KCNH2_001124" "g.150655521C>T" "" "{PMID:Ackerman 2003:14661677}" "" "G542A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958433C>T" "" "benign" "" "0000242204" "0" "10" "7" "150655504" "150655504" "subst" "0" "00006" "KCNH2_001122" "g.150655504C>T" "" "{PMID:Ackerman 2003:14661677}" "" "G559A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958416C>T" "" "benign" "" "0000242205" "0" "10" "7" "150655510" "150655518" "del" "0" "00006" "KCNH2_001120" "g.150655510_150655518del" "" "{PMID:Ackerman 2003:14661677}" "" "559_567del" "{cardmoc:hergmut} (variantchecker): No positioning scheme specified, assuming EST. However, reference does not look like an EST. Did you forget to specify the positioning scheme?|(variantchecker): Sequence \"GCTACTCGC\" at position 559_567 was given, however, the HGVS notation prescribes that on the forward strand it should be \"CTACTCGCG\" at position 560_568." "Germline" "" "" "0" "" "" "g.150958422_150958430del" "" "benign" "" "0000242206" "0" "10" "7" "150655495" "150655495" "subst" "0" "00006" "KCNH2_001119" "g.150655495C>T" "" "{PMID:Ackerman 2003:14661677}" "" "G568A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958407C>T" "" "benign" "" "0000242207" "0" "10" "7" "150655456" "150655456" "subst" "0" "00006" "KCNH2_001116" "g.150655456C>T" "" "{PMID:Ackerman 2003:14661677}" "" "G607A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958368C>T" "" "benign" "" "0000242208" "0" "10" "7" "150655419" "150655419" "subst" "0" "00006" "KCNH2_001115" "g.150655419A>C" "" "{PMID:Ackerman 2003:14661677}" "" "T644G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958331A>C" "" "benign" "" "0000242209" "0" "10" "7" "150655312" "150655312" "subst" "0" "00006" "KCNH2_001110" "g.150655312G>C" "" "{PMID:Ackerman 2003:14661677}" "" "C751G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958224G>C" "" "benign" "" "0000242210" "0" "10" "7" "150655301" "150655301" "subst" "0" "00006" "KCNH2_001108" "g.150655301G>C" "" "{PMID:Ackerman 2003:14661677}" "" "C762G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958213G>C" "" "benign" "" "0000242211" "0" "10" "7" "150655294" "150655294" "subst" "0" "00006" "KCNH2_001107" "g.150655294T>G" "" "{PMID:Ackerman 2003:14661677}" "" "A769C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150958206T>G" "" "benign" "" "0000242212" "0" "10" "7" "150654468" "150654468" "subst" "0.00108024" "00006" "KCNH2_000145" "g.150654468G>A" "" "{PMID:Ackerman 2003:14661677}" "" "C1039T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150957380G>A" "" "benign" "" "0000242213" "0" "10" "7" "150654408" "150654408" "subst" "0" "00006" "KCNH2_001098" "g.150654408T>A" "" "{PMID:Ackerman 2003:14661677}" "" "A1099T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150957320T>A" "" "benign" "" "0000242214" "0" "10" "7" "150654451" "150654451" "subst" "0" "00006" "KCNH2_001099" "g.150654451G>A" "" "{PMID:Larsen 2001:11468227}" "" "C1056T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150957363G>A" "" "benign" "" "0000242215" "0" "10" "7" "150649603" "150649603" "subst" "0.301158" "00006" "KCNH2_000944" "g.150649603G>A" "" "{PMID:Akimoto 1997:9452080}" "" "C1467T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952515G>A" "" "benign" "" "0000242216" "0" "10" "7" "150649603" "150649603" "subst" "0.301158" "00006" "KCNH2_000944" "g.150649603G>A" "" "{PMID:Iwasa 2000:10807545}" "" "C1467T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952515G>A" "" "benign" "" "0000242217" "0" "10" "7" "150649603" "150649603" "subst" "0.301158" "00006" "KCNH2_000944" "g.150649603G>A" "" "{PMID:Larsen 2001:11468227}" "" "C1467T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952515G>A" "" "benign" "" "0000242218" "0" "10" "7" "150649603" "150649603" "subst" "0.301158" "00006" "KCNH2_000944" "g.150649603G>A" "" "{PMID:Jongbloed 2002:12402336}" "" "C1467T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952515G>A" "" "benign" "" "0000242219" "0" "10" "7" "150649603" "150649603" "subst" "0.301158" "00006" "KCNH2_000944" "g.150649603G>A" "" "{PMID:Aydin 2004:15599693}" "" "C1467T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952515G>A" "" "benign" "" "0000242220" "0" "10" "7" "150649531" "150649531" "subst" "0.300506" "00006" "KCNH2_000945" "g.150649531G>A" "" "{PMID:Akimoto 1997:9452080}" "" "C1539T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952443G>A" "" "benign" "" "0000242221" "0" "10" "7" "150649531" "150649531" "subst" "0.300506" "00006" "KCNH2_000945" "g.150649531G>A" "" "{PMID:Iwasa 2000:10807545}" "" "C1539T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952443G>A" "" "benign" "" "0000242222" "0" "10" "7" "150649531" "150649531" "subst" "0.300506" "00006" "KCNH2_000945" "g.150649531G>A" "" "{PMID:Larsen 2001:11468227}" "" "C1539T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952443G>A" "" "benign" "" "0000242223" "0" "10" "7" "150649531" "150649531" "subst" "0.300506" "00006" "KCNH2_000945" "g.150649531G>A" "" "{PMID:Jongbloed 2002:12402336}" "" "C1539T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952443G>A" "" "benign" "" "0000242224" "0" "10" "7" "150649531" "150649531" "subst" "0.300506" "00006" "KCNH2_000945" "g.150649531G>A" "" "{PMID:Aydin 2004:15599693}" "" "C1539T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150952443G>A" "" "benign" "" "0000242225" "0" "10" "7" "150648789" "150648789" "subst" "0.477071" "00006" "KCNH2_001066" "g.150648789T>C" "" "{PMID:Akimoto 1997:9452080}" "" "A1692G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951701T>C" "" "benign" "" "0000242226" "0" "10" "7" "150648789" "150648789" "subst" "0.477071" "00006" "KCNH2_001066" "g.150648789T>C" "" "{PMID:Iwasa 2000:10807545}" "" "A1692G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951701T>C" "" "benign" "" "0000242227" "0" "10" "7" "150648789" "150648789" "subst" "0.477071" "00006" "KCNH2_001066" "g.150648789T>C" "" "{PMID:Larsen 2001:11468227}" "" "A1692G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951701T>C" "" "benign" "" "0000242228" "0" "10" "7" "150648198" "150648198" "subst" "0.660945" "00006" "KCNH2_000942" "g.150648198A>G" "" "{PMID:Larsen 1999:10482963}" "" "T1956C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951110A>G" "" "benign" "" "0000242229" "0" "10" "7" "150648198" "150648198" "subst" "0.660945" "00006" "KCNH2_000942" "g.150648198A>G" "" "{PMID:Iwasa 2000:10807545}" "" "T1956C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951110A>G" "" "benign" "" "0000242230" "0" "10" "7" "150648198" "150648198" "subst" "0.660945" "00006" "KCNH2_000942" "g.150648198A>G" "" "{PMID:Larsen 2001:11468227}" "" "T1956C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951110A>G" "" "benign" "" "0000242231" "0" "10" "7" "150648198" "150648198" "subst" "0.660945" "00006" "KCNH2_000942" "g.150648198A>G" "" "{PMID:Jongbloed 2002:12402336}" "" "T1956C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150951110A>G" "" "benign" "" "0000242232" "0" "10" "7" "150647569" "150647569" "subst" "0" "00006" "KCNH2_001027" "g.150647569T>C" "" "{PMID:Larsen 2001:11468227}" "" "2146-61A>G" "{cardmoc:hergmut} (variantchecker): Intronic position given for a non-genomic reference sequence." "Germline" "" "" "0" "" "" "g.150950481T>C" "" "benign" "" "0000242233" "0" "10" "7" "150647569" "150647569" "subst" "0" "00006" "KCNH2_001027" "g.150647569T>C" "" "{PMID:Tester 2006:16818214}" "" "2146-61A>G" "{cardmoc:hergmut} (variantchecker): Intronic position given for a non-genomic reference sequence." "Germline" "" "" "0" "" "" "g.150950481T>C" "" "benign" "" "0000242234" "0" "10" "7" "150647970" "150647970" "subst" "0" "00006" "KCNH2_000937" "g.150647970C>T" "" "{PMID:Aydin 2004:15599693}" "" "IVS8+39G>A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950882C>T" "" "benign" "" "0000242235" "0" "10" "7" "150647969" "150647969" "subst" "0.236434" "00006" "KCNH2_000938" "g.150647969C>T" "" "{PMID:Aydin 2004:15599693}" "" "IVS8+40G>A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950881C>T" "" "benign" "" "0000242236" "0" "10" "7" "150647487" "150647487" "subst" "0" "00006" "KCNH2_001026" "g.150647487A>G" "" "{PMID:Ackerman 2003:14661677}" "" "T2167C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150950399A>G" "" "benign" "" "0000242237" "0" "10" "7" "150644672" "150644672" "subst" "0" "00006" "KCNH2_000979" "g.150644672T>C" "" "{PMID:Iwasa 2000:10807545}" "" "2965+22A>G" "{cardmoc:hergmut} (variantchecker): Intronic position given for a non-genomic reference sequence.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000242238" "0" "10" "7" "150645607" "150645607" "subst" "0.000175437" "00006" "KCNH2_001005" "g.150645607C>T" "" "{PMID:Ackerman 2003:14661677}" "" "G2617A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948519C>T" "" "benign" "" "0000242239" "0" "10" "7" "150645600" "150645600" "subst" "0" "00006" "KCNH2_001004" "g.150645600G>A" "" "{PMID:Koo 2006:16487223}" "" "C2624T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948512G>A" "" "benign" "" "0000242240" "0" "10" "7" "150645564" "150645564" "subst" "8.20823E-6" "00006" "KCNH2_000048" "g.150645564C>T" "" "{PMID:Mank-Seymour 2006:17161064}" "" "R887H" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948476C>T" "" "benign" "" "0000242241" "0" "10" "7" "150645534" "150645534" "subst" "0.181908" "00006" "KCNH2_000880" "g.150645534T>G" "" "{PMID:Iwasa 2000:10807545}" "" "A2690C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948446T>G" "" "benign" "" "0000242242" "0" "10" "7" "150645534" "150645534" "subst" "0.181908" "00006" "KCNH2_000880" "g.150645534T>G" "" "{PMID:Yang 2002:};http://circ.ahajournals.org/cgi/content/abstract/105/16/1943" "" "A2690C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948446T>G" "" "benign" "" "0000242243" "0" "10" "7" "150645534" "150645534" "subst" "0.181908" "00006" "KCNH2_000880" "g.150645534T>G" "" "{PMID:Aydin 2004:15599693}" "" "A2690C" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150948446T>G" "" "benign" "" "0000242244" "0" "10" "7" "150645534" "150645534" "subst" "0.181908" "00006" "KCNH2_000880" "g.150645534T>G" "" "{PMID:Mank-Seymour 2006:17161064}" "" "A2690C" "{cardmoc:hergmut}" "Germline" "" "rs1805123" "0" "" "" "g.150948446T>G" "" "benign" "" "0000242245" "0" "10" "7" "150644404" "150644404" "subst" "0.00344314" "00006" "KCNH2_000939" "g.150644404G>T" "" "{PMID:Larsen 2001:11468227}" "" "IVS13+12C>A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947316G>T" "" "benign" "" "0000242246" "0" "10" "7" "150644930" "150644930" "subst" "0.000102654" "00006" "KCNH2_000998" "g.150644930G>A" "" "{PMID:Ackerman 2003:14661677}" "" "C2729T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947842G>A" "" "benign" "" "0000242247" "0" "10" "7" "150644915" "150644915" "subst" "0" "00006" "KCNH2_000995" "g.150644915G>A" "" "{PMID:Ackerman 2003:14661677}" "" "C2744T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947827G>A" "" "benign" "" "0000242248" "0" "10" "7" "150644909" "150644909" "subst" "0" "00006" "KCNH2_000931" "g.150644909G>A" "" "{PMID:Ackerman 2003:14661677}" "" "C2750T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947821G>A" "" "benign" "" "0000242249" "0" "10" "7" "150644909" "150644909" "subst" "0" "00006" "KCNH2_000931" "g.150644909G>A" "" "{PMID:Mank-Seymour 2006:17161064}" "" "C2750T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947821G>A" "" "benign" "" "0000242250" "0" "10" "7" "150644766" "150644766" "subst" "1.81937E-5" "00006" "KCNH2_000985" "g.150644766C>T" "" "{PMID:Koo 2006:16487223}" "" "G2893A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947678C>T" "" "benign" "" "0000242251" "0" "10" "7" "150644759" "150644759" "subst" "9.37065E-5" "00006" "KCNH2_000984" "g.150644759G>A" "" "{PMID:Ackerman 2003:14661677}" "" "C2900T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947671G>A" "" "benign" "" "0000242252" "0" "10" "7" "150644503" "150644505" "del" "0" "00006" "KCNH2_000976" "g.150644503_150644505del" "" "{PMID:Ackerman 2003:14661677}" "" "3067_3069del" "{cardmoc:hergmut} (variantchecker): No positioning scheme specified, assuming EST. However, reference does not look like an EST. Did you forget to specify the positioning scheme?" "Germline" "" "" "0" "" "" "g.150947415_150947417del" "" "benign" "" "0000242253" "0" "10" "7" "150644465" "150644465" "subst" "2.85437E-5" "00006" "KCNH2_000969" "g.150644465G>A" "" "{PMID:Ackerman 2003:14661677}" "" "C3103T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947377G>A" "" "benign" "" "0000242254" "0" "10" "7" "150644428" "150644428" "subst" "0.0162168" "00006" "KCNH2_000903" "g.150644428C>A" "" "{PMID:Larsen 2001:11468227}" "" "G3140T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947340C>A" "" "benign" "" "0000242255" "0" "10" "7" "150644428" "150644428" "subst" "0.0162168" "00006" "KCNH2_000903" "g.150644428C>A" "" "{PMID:Mank-Seymour 2006:17161064}" "" "G3140T" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947340C>A" "" "benign" "" "0000242256" "0" "10" "7" "150644394" "150644394" "subst" "0.334835" "00006" "KCNH2_000940" "g.150644394C>T" "" "{PMID:Larsen 2001:11468227}" "" "IVS13+22A>G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947306C>T" "" "benign" "" "0000242257" "0" "10" "7" "150644394" "150644394" "subst" "0.334835" "00006" "KCNH2_000940" "g.150644394C>T" "" "{PMID:Jongbloed 2002:12402336}" "" "IVS13+22A>G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947306C>T" "" "benign" "" "0000242258" "0" "10" "7" "150644131" "150644131" "subst" "7.52401E-5" "00006" "KCNH2_000103" "g.150644131C>T" "" "{PMID:Koo 2006:16487223}" "" "G3164A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947043C>T" "" "benign" "" "0000242259" "0" "10" "7" "150644122" "150644122" "subst" "0" "00006" "KCNH2_000960" "g.150644122G>T" "" "{PMID:Ackerman 2003:14661677}" "" "C3173A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947034G>T" "" "benign" "" "0000242260" "0" "10" "7" "150644092" "150644092" "subst" "4.49949E-5" "00006" "KCNH2_000959" "g.150644092T>C" "" "{PMID:Ackerman 2003:14661677}" "" "A3203G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150947004T>C" "" "benign" "" "0000242261" "0" "10" "7" "150643973" "150643973" "subst" "5.90418E-5" "00006" "KCNH2_000958" "g.150643973G>C" "" "{PMID:Koo 2006:16487223}" "" "C3322G" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150946885G>C" "" "benign" "" "0000242262" "0" "10" "7" "150642473" "150642473" "subst" "0" "00006" "KCNH2_000955" "g.150642473C>T" "" "{PMID:Koo 2006:16487223}" "" "G3460A" "{cardmoc:hergmut}" "Germline" "" "" "0" "" "" "g.150945385C>T" "" "benign" "" "0000242441" "0" "50" "7" "150646033" "150646033" "subst" "0" "00006" "KCNH2_000892" "g.150646033G>A" "" "{PMID:Lupoglazoff 2004:14998624}" "" "R835W" "" "Germline" "" "" "0" "" "" "g.150948945G>A" "" "VUS" "" "0000242455" "0" "90" "7" "150656676" "150656737" "del" "0" "00006" "KCNH2_000902" "g.150656676_150656737del" "" "{PMID:Choi 2004:15466642}" "" "V131fs/185" "" "Germline" "" "" "0" "" "" "g.150959588_150959649del" "" "pathogenic" "" "0000242465" "0" "50" "7" "150655510" "150655518" "dup" "0" "00006" "KCNH2_000930" "g.150655510_150655518dup" "" "{PMID:Paulussen 2000:10790218}" "" "insGCGCGGGCG" "" "Germline" "" "" "0" "" "" "g.150958422_150958430dup" "" "VUS" "" "0000242466" "1" "30" "7" "150655436" "150655437" "ins" "0" "01348" "KCNH2_000935" "g.150655436_150655437insAGG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150958348_150958349insAGG" "" "likely benign" "" "0000242522" "0" "90" "7" "150654411" "150654411" "subst" "0" "00006" "KCNH2_000720" "g.150654411G>A" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150957323G>A" "" "pathogenic" "" "0000242523" "0" "90" "7" "150654379" "150654379" "subst" "0" "00006" "KCNH2_001097" "g.150654379C>T" "2/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150957291C>T" "" "pathogenic" "" "0000242524" "0" "90" "7" "150649806" "150649806" "subst" "0" "00006" "KCNH2_001087" "g.150649806C>T" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150952718C>T" "" "pathogenic" "" "0000242525" "0" "90" "7" "150671949" "150671949" "subst" "0" "00006" "KCNH2_001148" "g.150671949C>G" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150974861C>G" "" "pathogenic" "" "0000242526" "0" "90" "7" "150648881" "150648881" "subst" "0" "00006" "KCNH2_000766" "g.150648881G>A" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150951793G>A" "" "pathogenic" "" "0000242527" "0" "90" "7" "150648826" "150648826" "subst" "7.31803E-5" "00006" "KCNH2_000914" "g.150648826A>G" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150951738A>G" "" "pathogenic" "" "0000242528" "0" "90" "7" "150648800" "150648800" "subst" "0" "00006" "KCNH2_000761" "g.150648800C>T" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150951712C>T" "" "pathogenic" "" "0000242529" "0" "90" "7" "150648799" "150648799" "subst" "0" "00006" "KCNH2_000021" "g.150648799G>A" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150951711G>A" "" "pathogenic" "" "0000242530" "0" "90" "7" "150648737" "150648737" "subst" "0" "00006" "KCNH2_000669" "g.150648737G>A" "2/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150951649G>A" "" "pathogenic" "" "0000242531" "0" "90" "7" "150648731" "150648731" "subst" "8.12295E-6" "00006" "KCNH2_000665" "g.150648731C>T" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150951643C>T" "" "pathogenic" "" "0000242532" "0" "90" "7" "150648719" "150648719" "subst" "0" "00006" "KCNH2_001058" "g.150648719T>C" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150951631T>C" "" "pathogenic" "" "0000242533" "0" "90" "7" "150648671" "150648671" "subst" "0" "00006" "KCNH2_000835" "g.150648671C>T" "4/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150951583C>T" "" "pathogenic" "" "0000242534" "0" "90" "7" "150648643" "150648643" "subst" "0" "00006" "KCNH2_000017" "g.150648643G>A" "6/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150951555G>A" "" "pathogenic" "" "0000242535" "0" "90" "7" "150648640" "150648640" "subst" "0" "00006" "KCNH2_000834" "g.150648640G>A" "2/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150951552G>A" "" "pathogenic" "" "0000242536" "0" "90" "7" "150648599" "150648599" "subst" "0" "00006" "KCNH2_000825" "g.150648599C>T" "2/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150951511C>T" "" "pathogenic" "" "0000242537" "0" "90" "7" "150648592" "150648592" "subst" "0" "00006" "KCNH2_001043" "g.150648592A>G" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150951504A>G" "" "pathogenic" "" "0000242538" "0" "90" "7" "150648583" "150648583" "subst" "0" "00006" "KCNH2_000823" "g.150648583T>C" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150951495T>C" "" "pathogenic" "" "0000242539" "0" "90" "7" "150671913" "150671913" "subst" "0" "00006" "KCNH2_001143" "g.150671913T>G" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150974825T>G" "" "pathogenic" "" "0000242540" "0" "90" "7" "150671897" "150671897" "subst" "0" "00006" "KCNH2_001140" "g.150671897T>C" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150974809T>C" "" "pathogenic" "" "0000242541" "0" "90" "7" "150671874" "150671874" "subst" "0" "00006" "KCNH2_001137" "g.150671874C>G" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150974786C>G" "" "pathogenic" "" "0000242542" "0" "90" "7" "150647304" "150647304" "subst" "4.06765E-6" "00006" "KCNH2_001019" "g.150647304G>A" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150950216G>A" "" "pathogenic" "" "0000242543" "0" "90" "7" "150647251" "150647251" "subst" "0" "00006" "KCNH2_001014" "g.150647251C>A" "3/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150950163C>A" "" "pathogenic" "" "0000242544" "0" "90" "7" "150646122" "150646122" "subst" "0" "00006" "KCNH2_001013" "g.150646122A>C" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150949034A>C" "" "pathogenic" "" "0000242545" "0" "90" "7" "150646072" "150646072" "subst" "0" "00006" "KCNH2_000801" "g.150646072C>T" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150948984C>T" "" "pathogenic" "" "0000242546" "0" "90" "7" "150645949" "150645949" "subst" "4.06332E-6" "00006" "KCNH2_000687" "g.150645949G>A" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150948861G>A" "" "pathogenic" "" "0000242547" "0" "90" "7" "150644886" "150644886" "subst" "0" "00006" "KCNH2_000990" "g.150644886C>T" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150947798C>T" "" "pathogenic" "" "0000242548" "0" "90" "7" "150644711" "150644711" "subst" "0.000128655" "00006" "KCNH2_000981" "g.150644711G>A" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150947623G>A" "" "pathogenic" "" "0000242549" "0" "90" "7" "150644581" "150644581" "subst" "0" "00006" "KCNH2_000709" "g.150644581T>A" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150947493T>A" "" "pathogenic" "" "0000242550" "0" "90" "7" "150644528" "150644528" "subst" "0" "00006" "KCNH2_000704" "g.150644528G>A" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150947440G>A" "" "pathogenic" "" "0000242551" "0" "90" "7" "150644461" "150644461" "subst" "7.86523E-5" "00006" "KCNH2_000694" "g.150644461C>T" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150947373C>T" "" "pathogenic" "" "0000242552" "0" "90" "7" "150644138" "150644138" "subst" "0" "00006" "KCNH2_000963" "g.150644138C>A" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150947050C>A" "" "pathogenic" "" "0000242553" "0" "90" "7" "150672028" "150672029" "delins" "0" "00006" "KCNH2_001157" "g.150672028_150672029delinsAA" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "77-78GC>TT" "" "Germline" "" "" "0" "" "" "g.150974940_150974941delinsAA" "" "pathogenic" "" "0000242554" "0" "90" "7" "150672019" "150672019" "subst" "0" "00006" "KCNH2_001155" "g.150672019G>T" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "" "" "Germline" "" "" "0" "" "" "g.150974931G>T" "" "pathogenic" "" "0000242555" "0" "90" "7" "150671861" "150671891" "del" "0" "00006" "KCNH2_001135" "g.150671861_150671891del" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "del221–251" "" "Germline" "" "" "0" "" "" "g.150974773_150974803del" "" "pathogenic" "" "0000242556" "0" "90" "7" "150644554" "150644554" "del" "0" "00006" "KCNH2_000978" "g.150644554del" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "del3014" "" "Germline" "" "" "0" "" "" "g.150947466del" "" "pathogenic" "" "0000242557" "0" "90" "7" "150644463" "150644470" "del" "0" "00006" "KCNH2_000968" "g.150644463_150644470del" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "del3101–3108" "" "Germline" "" "" "0" "" "" "g.150947375_150947382del" "" "pathogenic" "" "0000242558" "0" "90" "7" "150644468" "150644468" "del" "0" "00006" "KCNH2_000970" "g.150644468del" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "del3103" "" "Germline" "" "" "0" "" "" "g.150947380del" "" "pathogenic" "" "0000242559" "0" "90" "7" "150654518" "150654528" "del" "0" "00006" "KCNH2_001100" "g.150654518_150654528del" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "del981–991" "" "Germline" "" "" "0" "" "" "g.150957430_150957440del" "" "pathogenic" "" "0000242560" "0" "90" "7" "150647260" "150647260" "del" "0" "00006" "KCNH2_001016" "g.150647260del" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "delC2395" "" "Germline" "" "" "0" "" "" "g.150950172del" "" "pathogenic" "" "0000242561" "0" "90" "7" "150644900" "150644900" "del" "0" "00006" "KCNH2_000993" "g.150644900del" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "delG2762" "" "Germline" "" "" "0" "" "" "g.150947812del" "" "pathogenic" "" "0000242562" "0" "90" "7" "150644457" "150644463" "dup" "0" "00006" "KCNH2_000965" "g.150644457_150644463dup" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "dup3106–3112" "" "Germline" "" "" "0" "" "" "g.150947369_150947375dup" "" "pathogenic" "" "0000242563" "0" "90" "7" "150656685" "150656685" "dup" "0" "00006" "KCNH2_000751" "g.150656685dup" "2/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "insC453–454" "" "Germline" "" "" "0" "" "" "g.150959597dup" "" "pathogenic" "" "0000242564" "0" "90" "7" "150644469" "150644470" "dup" "0" "00006" "KCNH2_000973" "g.150644469_150644470dup" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "insCG3098–3099" "" "Germline" "" "" "0" "" "" "g.150947381_150947382dup" "" "pathogenic" "" "0000242565" "0" "90" "7" "150644879" "150644879" "dup" "0" "00006" "KCNH2_000987" "g.150644879dup" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "insG2785–2786" "" "Germline" "" "" "0" "" "" "g.150947791dup" "" "pathogenic" "" "0000242566" "0" "90" "7" "150644123" "150644123" "dup" "0" "00006" "KCNH2_000961" "g.150644123dup" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "insG3173" "" "Germline" "" "" "0" "" "" "g.150947035dup" "" "pathogenic" "" "0000242567" "0" "90" "7" "150644128" "150644128" "dup" "0" "00006" "KCNH2_000962" "g.150644128dup" "1/541 cases LQT" "{PMID:Tester 2005:15840476}" "" "insT3168" "" "Germline" "" "" "0" "" "" "g.150947040dup" "" "pathogenic" "" "0000242582" "0" "11" "7" "150655521" "150655521" "subst" "0.00020074" "00006" "KCNH2_001124" "g.150655521C>T" "4/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150958433C>T" "" "benign" "" "0000242583" "0" "11" "7" "150655504" "150655504" "subst" "0" "00006" "KCNH2_001122" "g.150655504C>T" "1/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150958416C>T" "" "benign" "" "0000242584" "0" "11" "7" "150655510" "150655518" "del" "0" "00006" "KCNH2_000151" "g.150655510_150655518del" "3/305 controls" "{PMID:Ackerman 2003:14661677}" "" "del559-567" "" "Germline" "" "" "0" "" "" "g.150958422_150958430del" "" "benign" "" "0000242585" "0" "11" "7" "150655495" "150655495" "subst" "0" "00006" "KCNH2_001119" "g.150655495C>T" "1/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150958407C>T" "" "benign" "" "0000242586" "0" "11" "7" "150655456" "150655456" "subst" "0" "00006" "KCNH2_001116" "g.150655456C>T" "1/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150958368C>T" "" "benign" "" "0000242587" "0" "11" "7" "150655294" "150655294" "subst" "0" "00006" "KCNH2_001107" "g.150655294T>G" "1/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150958206T>G" "" "benign" "" "0000242588" "0" "11" "7" "150654408" "150654408" "subst" "0" "00006" "KCNH2_001098" "g.150654408T>A" "1/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150957320T>A" "" "benign" "" "0000242589" "0" "11" "7" "150645607" "150645607" "subst" "0.000175437" "00006" "KCNH2_001005" "g.150645607C>T" "1/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150948519C>T" "" "benign" "" "0000242590" "0" "11" "7" "150645534" "150645534" "subst" "0.181908" "00006" "KCNH2_000880" "g.150645534T>G" "25/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150948446T>G" "" "benign" "" "0000242591" "0" "11" "7" "150644930" "150644930" "subst" "0.000102654" "00006" "KCNH2_000998" "g.150644930G>A" "1/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150947842G>A" "" "benign" "" "0000242592" "0" "11" "7" "150644759" "150644759" "subst" "9.37065E-5" "00006" "KCNH2_000984" "g.150644759G>A" "1/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150947671G>A" "" "benign" "" "0000242593" "0" "11" "7" "150644465" "150644465" "subst" "2.85437E-5" "00006" "KCNH2_000969" "g.150644465G>A" "1/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150947377G>A" "" "benign" "" "0000242594" "0" "11" "7" "150644428" "150644428" "subst" "0.0162168" "00006" "KCNH2_000903" "g.150644428C>A" "1/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150947340C>A" "" "benign" "" "0000242595" "0" "11" "7" "150644122" "150644122" "subst" "0" "00006" "KCNH2_000960" "g.150644122G>T" "1/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150947034G>T" "" "benign" "" "0000242596" "0" "11" "7" "150644092" "150644092" "subst" "4.49949E-5" "00006" "KCNH2_000959" "g.150644092T>C" "1/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150947004T>C" "" "benign" "" "0000242607" "0" "11" "7" "150672008" "150672008" "subst" "0" "00006" "KCNH2_001153" "g.150672008T>G" "1/187 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150974920T>G" "" "benign" "" "0000242608" "0" "11" "7" "150655537" "150655537" "subst" "0.000327217" "00006" "KCNH2_000132" "g.150655537G>A" "1/187 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150958449G>A" "" "benign" "" "0000242609" "0" "11" "7" "150655419" "150655419" "subst" "0" "00006" "KCNH2_001115" "g.150655419A>C" "1/187 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150958331A>C" "" "benign" "" "0000242610" "0" "11" "7" "150655301" "150655301" "subst" "0" "00006" "KCNH2_001108" "g.150655301G>C" "1/187 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150958213G>C" "" "benign" "" "0000242611" "0" "11" "7" "150654468" "150654468" "subst" "0.00108024" "00006" "KCNH2_000145" "g.150654468G>A" "1/187 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150957380G>A" "" "benign" "" "0000242612" "0" "11" "7" "150647487" "150647487" "subst" "0" "00006" "KCNH2_001026" "g.150647487A>G" "1/187 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150950399A>G" "" "benign" "" "0000242613" "0" "11" "7" "150645534" "150645534" "subst" "0.181908" "00006" "KCNH2_000880" "g.150645534T>G" "62/187 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150948446T>G" "" "benign" "" "0000242614" "0" "11" "7" "150644909" "150644909" "subst" "0" "00006" "KCNH2_000931" "g.150644909G>A" "3/187 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150947821G>A" "" "benign" "" "0000242615" "0" "11" "7" "150647570" "150647570" "del" "0" "00006" "KCNH2_001028" "g.150647570del" "1/187 controls" "{PMID:Ackerman 2003:14661677}" "" "del3067-3069" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000242616" "0" "11" "7" "150644428" "150644428" "subst" "0.0162168" "00006" "KCNH2_000903" "g.150644428C>A" "7/187 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150947340C>A" "" "benign" "" "0000242623" "0" "11" "7" "150645534" "150645534" "subst" "0.181908" "00006" "KCNH2_000880" "g.150645534T>G" "10/134 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150948446T>G" "" "benign" "" "0000242624" "0" "11" "7" "150644915" "150644915" "subst" "0" "00006" "KCNH2_000995" "g.150644915G>A" "6/134 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150947827G>A" "" "benign" "" "0000242630" "0" "11" "7" "150655312" "150655312" "subst" "0" "00006" "KCNH2_001110" "g.150655312G>C" "1/118 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150958224G>C" "" "benign" "" "0000242631" "0" "11" "7" "150645534" "150645534" "subst" "0.181908" "00006" "KCNH2_000880" "g.150645534T>G" "8/118 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.150948446T>G" "" "benign" "" "0000246544" "0" "10" "7" "150648198" "150648198" "subst" "0.660945" "02330" "KCNH2_000942" "g.150648198A>G" "" "" "" "KCNH2(NM_000238.3):c.1956T>C (p.Y652=), KCNH2(NM_000238.4):c.1956T>C (p.Y652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951110A>G" "" "benign" "" "0000246647" "0" "50" "7" "150647487" "150647487" "subst" "0" "02330" "KCNH2_001207" "g.150647487A>C" "" "" "" "KCNH2(NM_000238.4):c.2167T>G (p.C723G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150950399A>C" "" "VUS" "" "0000247833" "0" "10" "7" "150648198" "150648198" "subst" "0.660945" "02325" "KCNH2_000942" "g.150648198A>G" "" "" "" "KCNH2(NM_000238.3):c.1956T>C (p.Y652=), KCNH2(NM_000238.4):c.1956T>C (p.Y652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951110A>G" "" "benign" "" "0000250615" "0" "10" "7" "150648198" "150648198" "subst" "0.660945" "02326" "KCNH2_000942" "g.150648198A>G" "" "" "" "KCNH2(NM_000238.3):c.1956T>C (p.Y652=), KCNH2(NM_000238.4):c.1956T>C (p.Y652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951110A>G" "" "benign" "" "0000252409" "0" "70" "7" "150671846" "150671846" "subst" "0" "02326" "KCNH2_000770" "g.150671846A>G" "" "" "" "KCNH2(NM_000238.3):c.260T>C (p.L87P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150974758A>G" "" "likely pathogenic" "" "0000252967" "0" "10" "7" "150648198" "150648198" "subst" "0.660945" "01943" "KCNH2_000942" "g.150648198A>G" "" "" "" "KCNH2(NM_000238.3):c.1956T>C (p.Y652=), KCNH2(NM_000238.4):c.1956T>C (p.Y652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951110A>G" "" "benign" "" "0000278301" "0" "10" "7" "150642438" "150642438" "subst" "0.00248635" "02330" "KCNH2_001158" "g.150642438C>T" "" "" "" "KCNH2(NM_000238.4):c.*15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150945350C>T" "" "benign" "" "0000278302" "0" "30" "7" "150654468" "150654468" "subst" "0.00108024" "02330" "KCNH2_000145" "g.150654468G>A" "" "" "" "KCNH2(NM_000238.3):c.1039C>T (p.P347S), KCNH2(NM_000238.4):c.1039C>T (p.P347S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150957380G>A" "" "likely benign" "" "0000278303" "0" "10" "7" "150649959" "150649959" "subst" "0.00154006" "02330" "KCNH2_001193" "g.150649959G>A" "" "" "" "KCNH2(NM_000238.3):c.1129-18C>T, KCNH2(NM_000238.4):c.1129-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150952871G>A" "" "benign" "" "0000278304" "0" "10" "7" "150671986" "150671986" "subst" "0" "02330" "KCNH2_001204" "g.150671986G>A" "" "" "" "KCNH2(NM_000238.4):c.120C>T (p.A40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150974898G>A" "" "benign" "" "0000278305" "0" "10" "7" "150649792" "150649792" "subst" "0" "02330" "KCNH2_001208" "g.150649792G>A" "" "" "" "KCNH2(NM_000238.4):c.1278C>T (p.P426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150952704G>A" "" "benign" "" "0000278306" "0" "30" "7" "150649773" "150649773" "subst" "0" "02330" "KCNH2_001192" "g.150649773G>A" "" "" "" "KCNH2(NM_000238.4):c.1297C>T (p.L433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150952685G>A" "" "likely benign" "" "0000278307" "0" "90" "7" "150649761" "150649761" "subst" "0" "02330" "KCNH2_001191" "g.150649761C>A" "" "" "" "KCNH2(NM_000238.4):c.1309G>T (p.E437*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150952673C>A" "" "pathogenic" "" "0000278308" "0" "10" "7" "150649738" "150649738" "subst" "0.00269632" "02330" "KCNH2_001190" "g.150649738C>T" "" "" "" "KCNH2(NM_000238.3):c.1332G>A (p.E444=), KCNH2(NM_000238.4):c.1332G>A (p.E444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150952650C>T" "" "benign" "" "0000278309" "0" "10" "7" "150649603" "150649603" "subst" "0.301158" "02330" "KCNH2_000944" "g.150649603G>A" "" "" "" "KCNH2(NM_000238.4):c.1467C>T (p.I489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150952515G>A" "" "benign" "" "0000278310" "0" "10" "7" "150649531" "150649531" "subst" "0.300506" "02330" "KCNH2_000945" "g.150649531G>A" "" "" "" "KCNH2(NM_000238.4):c.1539C>T (p.F513=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150952443G>A" "" "benign" "" "0000278311" "0" "10" "7" "150648918" "150648918" "subst" "0.00123237" "02330" "KCNH2_001188" "g.150648918G>A" "" "" "" "KCNH2(NM_000238.3):c.1563C>T (p.I521=), KCNH2(NM_000238.4):c.1563C>T (p.I521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951830G>A" "" "benign" "" "0000278312" "0" "10" "7" "150652577" "150652577" "subst" "0" "02330" "KCNH2_001210" "g.150652577G>A" "" "" "" "KCNH2(NM_172057.3):c.15C>T (p.A5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150955489G>A" "" "benign" "" "0000278313" "0" "10" "7" "150648879" "150648879" "subst" "9.05781E-5" "02330" "KCNH2_001187" "g.150648879G>A" "" "" "" "KCNH2(NM_000238.4):c.1602C>T (p.R534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951791G>A" "" "benign" "" "0000278314" "0" "90" "7" "150648799" "150648799" "subst" "0" "02330" "KCNH2_000021" "g.150648799G>A" "" "" "" "KCNH2(NM_000238.4):c.1682C>T (p.A561V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951711G>A" "" "pathogenic" "" "0000278315" "0" "10" "7" "150648789" "150648789" "subst" "0.477071" "02330" "KCNH2_001066" "g.150648789T>C" "" "" "" "KCNH2(NM_000238.3):c.1692A>G (p.L564=), KCNH2(NM_000238.4):c.1692A>G (p.L564=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951701T>C" "" "benign" "" "0000278316" "0" "70" "7" "150648773" "150648773" "subst" "0" "02330" "KCNH2_001186" "g.150648773C>A" "" "" "" "KCNH2(NM_000238.4):c.1708G>T (p.A570S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951685C>A" "" "likely pathogenic" "" "0000278317" "0" "70" "7" "150648598" "150648600" "del" "0" "02330" "KCNH2_001184" "g.150648598_150648600del" "" "" "" "KCNH2(NM_000238.4):c.1882_1884delGGC (p.G628del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951510_150951512del" "" "likely pathogenic" "" "0000278318" "0" "10" "7" "150648552" "150648552" "subst" "8.12348E-6" "02330" "KCNH2_001183" "g.150648552G>A" "" "" "" "KCNH2(NM_000238.4):c.1929C>T (p.C643=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951464G>A" "" "benign" "" "0000278319" "0" "10" "7" "150648217" "150648217" "subst" "6.45628E-5" "02330" "KCNH2_001182" "g.150648217G>A" "" "" "" "KCNH2(NM_000238.4):c.1946-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951129G>A" "" "benign" "" "0000278320" "0" "70" "7" "150671891" "150671891" "subst" "0" "02330" "KCNH2_001203" "g.150671891G>C" "" "" "" "KCNH2(NM_000238.4):c.215C>G (p.P72R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150974803G>C" "" "likely pathogenic" "" "0000278321" "0" "10" "7" "150647389" "150647389" "subst" "3.25696E-5" "02330" "KCNH2_001181" "g.150647389G>A" "" "" "" "KCNH2(NM_000238.4):c.2265C>T (p.A755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150950301G>A" "" "benign" "" "0000278322" "0" "10" "7" "150647323" "150647323" "subst" "0.000109881" "02330" "KCNH2_001180" "g.150647323G>A" "" "" "" "KCNH2(NM_000238.4):c.2331C>T (p.T777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150950235G>A" "" "benign" "" "0000278323" "0" "90" "7" "150647300" "150647300" "subst" "0" "02330" "KCNH2_001179" "g.150647300C>A" "" "" "" "KCNH2(NM_000238.4):c.2354G>T (p.G785V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150950212C>A" "" "pathogenic" "" "0000278324" "0" "10" "7" "150647278" "150647278" "subst" "6.91619E-5" "02330" "KCNH2_001178" "g.150647278G>A" "" "" "" "KCNH2(NM_000238.3):c.2376C>T (p.G792=), KCNH2(NM_000238.4):c.2376C>T (p.G792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150950190G>A" "" "benign" "" "0000278325" "0" "10" "7" "150646082" "150646082" "subst" "0.000320828" "02330" "KCNH2_001175" "g.150646082C>T" "" "" "" "KCNH2(NM_000238.4):c.2454G>A (p.S818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150948994C>T" "" "benign" "" "0000278326" "0" "10" "7" "150652568" "150652568" "subst" "0.000122539" "02330" "KCNH2_001209" "g.150652568C>T" "" "" "" "KCNH2(NM_172057.2):c.24G>A (p.A8=), KCNH2(NM_172057.3):c.24G>A (p.A8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150955480C>T" "" "benign" "" "0000278327" "0" "70" "7" "150646032" "150646032" "subst" "4.06105E-6" "02330" "KCNH2_001174" "g.150646032C>T" "" "" "" "KCNH2(NM_000238.4):c.2504G>A (p.R835Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150948944C>T" "" "likely pathogenic" "" "0000278328" "0" "30" "7" "150647100" "150647100" "subst" "7.79571E-5" "02330" "KCNH2_001177" "g.150647100C>T" "" "" "" "KCNH2(NM_172056.2):c.2554G>A (p.G852R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150950012C>T" "" "likely benign" "" "0000278329" "0" "50" "7" "150647021" "150647021" "subst" "0" "02330" "KCNH2_001176" "g.150647021C>T" "" "" "" "KCNH2(NM_172056.2):c.2633G>A (p.R878H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150949933C>T" "" "VUS" "" "0000278330" "0" "10" "7" "150645575" "150645575" "subst" "0" "02330" "KCNH2_001173" "g.150645575C>A" "" "" "" "KCNH2(NM_000238.4):c.2649G>T (p.R883=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150948487C>A" "" "benign" "" "0000278332" "0" "10" "7" "150645534" "150645534" "subst" "0.181908" "02330" "KCNH2_000880" "g.150645534T>G" "" "" "" "KCNH2(NM_000238.4):c.2690A>C (p.K897T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150948446T>G" "" "benign" "" "0000278333" "0" "10" "7" "150645519" "150645519" "subst" "0" "02330" "KCNH2_001170" "g.150645519T>C" "" "" "" "KCNH2(NM_000238.4):c.2692+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150948431T>C" "" "benign" "" "0000278334" "0" "10" "7" "150645514" "150645514" "subst" "0" "02330" "KCNH2_001169" "g.150645514T>C" "" "" "" "KCNH2(NM_000238.4):c.2692+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150948426T>C" "" "benign" "" "0000278335" "0" "10" "7" "150645525" "150645525" "subst" "0.0154107" "02330" "KCNH2_001171" "g.150645525G>C" "" "" "" "KCNH2(NM_000238.4):c.2692+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150948437G>C" "" "benign" "" "0000278336" "0" "50" "7" "150644952" "150644952" "subst" "0.000140077" "02330" "KCNH2_001168" "g.150644952C>T" "" "" "" "KCNH2(NM_000238.3):c.2707G>A (p.G903R), KCNH2(NM_000238.4):c.2707G>A (p.G903R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150947864C>T" "" "VUS" "" "0000278338" "0" "10" "7" "150671830" "150671830" "subst" "3.57795E-5" "02330" "KCNH2_001202" "g.150671830G>A" "" "" "" "KCNH2(NM_000238.4):c.276C>T (p.R92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150974742G>A" "" "benign" "" "0000278339" "0" "50" "7" "150671828" "150671828" "subst" "0.000178613" "02330" "KCNH2_000759" "g.150671828T>C" "" "" "" "KCNH2(NM_000238.4):c.278A>G (p.K93R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150974740T>C" "" "VUS" "" "0000278340" "0" "10" "7" "150644755" "150644755" "subst" "5.25399E-5" "02330" "KCNH2_001165" "g.150644755C>T" "" "" "" "KCNH2(NM_000238.4):c.2904G>A (p.P968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150947667C>T" "" "benign" "" "0000278341" "0" "70" "7" "150671805" "150671805" "subst" "0" "02330" "KCNH2_001201" "g.150671805T>G" "" "" "" "KCNH2(NM_000238.4):c.301A>C (p.K101Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150974717T>G" "" "likely pathogenic" "" "0000278342" "0" "90" "7" "150644528" "150644528" "subst" "0" "02330" "KCNH2_000704" "g.150644528G>A" "" "" "" "KCNH2(NM_000238.4):c.3040C>T (p.R1014*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150947440G>A" "" "pathogenic" "" "0000278343" "0" "50" "7" "150644516" "150644516" "subst" "2.6565E-5" "02330" "KCNH2_001163" "g.150644516G>C" "" "" "" "KCNH2(NM_000238.4):c.3052C>G (p.P1018A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150947428G>C" "" "VUS" "" "0000278344" "0" "10" "7" "150644505" "150644505" "subst" "0.000334581" "02330" "KCNH2_001162" "g.150644505G>A" "" "" "" "KCNH2(NM_000238.4):c.3063C>T (p.S1021=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150947417G>A" "" "benign" "" "0000278345" "0" "10" "7" "150644428" "150644428" "subst" "0.0162168" "02330" "KCNH2_000903" "g.150644428C>A" "" "" "" "KCNH2(NM_000238.3):c.3140G>T (p.R1047L), KCNH2(NM_000238.4):c.3140G>T (p.R1047L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150947340C>A" "" "benign" "" "0000278346" "0" "10" "7" "150644404" "150644404" "subst" "0.00344314" "02330" "KCNH2_000939" "g.150644404G>T" "" "" "" "KCNH2(NM_000238.3):c.3152+12C>A, KCNH2(NM_000238.4):c.3152+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150947316G>T" "" "benign" "" "0000278347" "0" "90" "7" "150656811" "150656812" "del" "0" "02330" "KCNH2_001200" "g.150656811_150656812del" "" "" "" "KCNH2(NM_000238.4):c.321_322delAT (p.C108Sfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150959723_150959724del" "" "pathogenic" "" "0000278348" "0" "10" "7" "150642615" "150642616" "del" "0" "02330" "KCNH2_001160" "g.150642615_150642616del" "" "" "" "KCNH2(NM_000238.3):c.3331-9_3331-8delGT (p.?), KCNH2(NM_000238.4):c.3331-9_3331-8delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150945527_150945528del" "" "benign" "" "0000278349" "0" "30" "7" "150642486" "150642486" "subst" "0" "02330" "KCNH2_001159" "g.150642486G>C" "" "" "" "KCNH2(NM_000238.4):c.3447C>G (p.P1149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150945398G>C" "" "likely benign" "" "0000278350" "0" "30" "7" "150656690" "150656690" "subst" "0.00121245" "02330" "KCNH2_000877" "g.150656690G>A" "" "" "" "KCNH2(NM_000238.3):c.442C>T (p.R148W), KCNH2(NM_000238.4):c.442C>T (p.R148W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150959602G>A" "" "likely benign" "" "0000278351" "0" "10" "7" "150655596" "150655596" "subst" "0.000111128" "02330" "KCNH2_001199" "g.150655596G>A" "" "" "" "KCNH2(NM_000238.3):c.473-6C>T, KCNH2(NM_000238.4):c.473-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150958508G>A" "" "benign" "" "0000278352" "0" "10" "7" "150674951" "150674951" "subst" "0.000576613" "02330" "KCNH2_001206" "g.150674951G>C" "" "" "" "KCNH2(NM_000238.3):c.51C>G (p.T17=), KCNH2(NM_000238.4):c.51C>G (p.T17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150977863G>C" "" "benign" "" "0000278353" "0" "50" "7" "150655536" "150655536" "subst" "5.23273E-5" "02330" "KCNH2_001197" "g.150655536C>T" "" "" "" "KCNH2(NM_000238.4):c.527G>A (p.R176Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150958448C>T" "" "VUS" "" "0000278354" "0" "10" "7" "150655505" "150655505" "subst" "0" "02330" "KCNH2_001196" "g.150655505G>A" "" "" "" "KCNH2(NM_000238.4):c.558C>T (p.G186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150958417G>A" "" "benign" "" "0000278355" "0" "50" "7" "150655338" "150655338" "subst" "0" "02330" "KCNH2_001195" "g.150655338C>T" "" "" "" "KCNH2(NM_000238.4):c.725G>A (p.R242H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150958250C>T" "" "VUS" "" "0000278356" "0" "50" "7" "150652510" "150652510" "subst" "6.79155E-5" "02330" "KCNH2_001194" "g.150652510G>A" "" "" "" "KCNH2(NM_172057.3):c.82C>T (p.R28C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150955422G>A" "" "VUS" "" "0000281713" "0" "30" "7" "150649738" "150649738" "subst" "0.00269632" "02325" "KCNH2_001190" "g.150649738C>T" "" "" "" "KCNH2(NM_000238.3):c.1332G>A (p.E444=), KCNH2(NM_000238.4):c.1332G>A (p.E444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150952650C>T" "" "likely benign" "" "0000281714" "0" "10" "7" "150645534" "150645534" "subst" "0.181908" "02325" "KCNH2_000880" "g.150645534T>G" "" "" "" "KCNH2(NM_000238.4):c.2690A>C (p.K897T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150948446T>G" "" "benign" "" "0000285501" "0" "30" "7" "150654468" "150654468" "subst" "0.00108024" "02326" "KCNH2_000145" "g.150654468G>A" "" "" "" "KCNH2(NM_000238.3):c.1039C>T (p.P347S), KCNH2(NM_000238.4):c.1039C>T (p.P347S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150957380G>A" "" "likely benign" "" "0000285502" "0" "30" "7" "150648929" "150648929" "subst" "1.4323E-5" "02326" "KCNH2_001189" "g.150648929G>A" "" "" "" "KCNH2(NM_000238.3):c.1558-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951841G>A" "" "likely benign" "" "0000285503" "0" "70" "7" "150648633" "150648633" "subst" "0" "02326" "KCNH2_001185" "g.150648633G>C" "" "" "" "KCNH2(NM_000238.3):c.1848C>G (p.Y616*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951545G>C" "" "likely pathogenic" "" "0000285504" "0" "30" "7" "150644758" "150644758" "subst" "1.77248E-5" "02326" "KCNH2_001166" "g.150644758C>A" "" "" "" "KCNH2(NM_000238.3):c.2901G>T (p.P967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150947670C>A" "" "likely benign" "" "0000285505" "0" "30" "7" "150644718" "150644718" "subst" "0.000266303" "02326" "KCNH2_001164" "g.150644718T>C" "" "" "" "KCNH2(NM_000238.3):c.2941A>G (p.(Ser981Gly), p.S981G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150947630T>C" "" "likely benign" "" "0000285506" "0" "30" "7" "150644428" "150644428" "subst" "0.0162168" "02326" "KCNH2_000903" "g.150644428C>A" "" "" "" "KCNH2(NM_000238.3):c.3140G>T (p.R1047L), KCNH2(NM_000238.4):c.3140G>T (p.R1047L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150947340C>A" "" "likely benign" "" "0000285507" "0" "10" "7" "150644404" "150644404" "subst" "0.00344314" "02326" "KCNH2_000939" "g.150644404G>T" "" "" "" "KCNH2(NM_000238.3):c.3152+12C>A, KCNH2(NM_000238.4):c.3152+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150947316G>T" "" "benign" "" "0000285508" "0" "30" "7" "150644409" "150644409" "subst" "0" "02326" "KCNH2_001161" "g.150644409C>T" "" "" "" "KCNH2(NM_000238.3):c.3152+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150947321C>T" "" "likely benign" "" "0000285509" "0" "30" "7" "150656690" "150656690" "subst" "0.00121245" "02326" "KCNH2_000877" "g.150656690G>A" "" "" "" "KCNH2(NM_000238.3):c.442C>T (p.R148W), KCNH2(NM_000238.4):c.442C>T (p.R148W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150959602G>A" "" "likely benign" "" "0000285510" "0" "30" "7" "150655596" "150655596" "subst" "0.000111128" "02326" "KCNH2_001199" "g.150655596G>A" "" "" "" "KCNH2(NM_000238.3):c.473-6C>T, KCNH2(NM_000238.4):c.473-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150958508G>A" "" "likely benign" "" "0000285511" "0" "30" "7" "150674951" "150674951" "subst" "0.000576613" "02326" "KCNH2_001206" "g.150674951G>C" "" "" "" "KCNH2(NM_000238.3):c.51C>G (p.T17=), KCNH2(NM_000238.4):c.51C>G (p.T17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150977863G>C" "" "likely benign" "" "0000285512" "0" "30" "7" "150674914" "150674914" "subst" "0" "02326" "KCNH2_001205" "g.150674914T>C" "" "" "" "KCNH2(NM_000238.3):c.76+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150977826T>C" "" "likely benign" "" "0000290055" "0" "10" "7" "150648789" "150648789" "subst" "0.477071" "01943" "KCNH2_001066" "g.150648789T>C" "" "" "" "KCNH2(NM_000238.3):c.1692A>G (p.L564=), KCNH2(NM_000238.4):c.1692A>G (p.L564=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150951701T>C" "" "benign" "" "0000405535" "0" "50" "7" "150672019" "150672019" "subst" "0" "01601" "KCNH2_001155" "g.150672019G>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.150974931G>T" "" "pathogenic" "" "0000439113" "0" "90" "7" "150652519" "150652519" "subst" "0" "02950" "KCNH2_001211" "g.150652519G>A" "" "{PMID:Monasky 2019:31292628}" "" "" "" "Germline" "" "" "0" "" "" "g.150955431G>A" "" "VUS" "" "0000531197" "0" "50" "7" "150642554" "150642554" "subst" "0" "02330" "KCNH2_001213" "g.150642554G>A" "" "" "" "KCNH2(NM_000238.4):c.3379C>T (p.L1127F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150945466G>A" "" "VUS" "" "0000531199" "0" "50" "7" "150644066" "150644066" "subst" "2.04822E-5" "02330" "KCNH2_001215" "g.150644066C>T" "" "" "" "KCNH2(NM_000238.4):c.3229G>A (p.A1077T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150946978C>T" "" "VUS" "" "0000531200" "0" "50" "7" "150644071" "150644071" "subst" "1.63677E-5" "02330" "KCNH2_001216" "g.150644071G>A" "" "" "" "KCNH2(NM_000238.4):c.3224C>T (p.P1075L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150946983G>A" "" "VUS" "" "0000531201" "0" "10" "7" "150644394" "150644394" "subst" "0.334835" "02327" "KCNH2_000940" "g.150644394C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947306C>T" "" "benign" "" "0000531203" "0" "30" "7" "150644428" "150644428" "subst" "0.0162168" "02327" "KCNH2_000903" "g.150644428C>A" "" "" "" "KCNH2(NM_000238.3):c.3140G>T (p.R1047L), KCNH2(NM_000238.4):c.3140G>T (p.R1047L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947340C>A" "" "likely benign" "" "0000531204" "0" "30" "7" "150644493" "150644493" "subst" "0" "02327" "KCNH2_001217" "g.150644493G>A" "" "" "" "KCNH2(NM_000238.4):c.3075C>T (p.I1025=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947405G>A" "" "likely benign" "" "0000531205" "0" "10" "7" "150644520" "150644520" "subst" "0.000137835" "02330" "KCNH2_001218" "g.150644520G>A" "" "" "" "KCNH2(NM_000238.4):c.3048C>T (p.P1016=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947432G>A" "" "benign" "" "0000531206" "0" "70" "7" "150644605" "150644605" "subst" "0" "02326" "KCNH2_000710" "g.150644605G>C" "" "" "" "KCNH2(NM_000238.3):c.2966-3C>G, KCNH2(NM_000238.4):c.2966-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947517G>C" "" "likely pathogenic" "" "0000531207" "0" "10" "7" "150644680" "150644680" "subst" "6.28952E-5" "02330" "KCNH2_001219" "g.150644680G>A" "" "" "" "KCNH2(NM_000238.3):c.2965+14C>T, KCNH2(NM_000238.4):c.2965+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947592G>A" "" "benign" "" "0000531208" "0" "30" "7" "150644680" "150644680" "subst" "6.28952E-5" "02326" "KCNH2_001219" "g.150644680G>A" "" "" "" "KCNH2(NM_000238.3):c.2965+14C>T, KCNH2(NM_000238.4):c.2965+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947592G>A" "" "likely benign" "" "0000531210" "0" "30" "7" "150644716" "150644716" "subst" "2.91356E-5" "02327" "KCNH2_001220" "g.150644716G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947628G>A" "" "likely benign" "" "0000531211" "0" "30" "7" "150644718" "150644718" "subst" "0.000266303" "02327" "KCNH2_001164" "g.150644718T>C" "" "" "" "KCNH2(NM_000238.3):c.2941A>G (p.(Ser981Gly), p.S981G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947630T>C" "" "likely benign" "" "0000531212" "0" "30" "7" "150644759" "150644759" "subst" "9.37065E-5" "02330" "KCNH2_000984" "g.150644759G>A" "" "" "" "KCNH2(NM_000238.4):c.2900C>T (p.P967L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947671G>A" "" "likely benign" "" "0000531215" "0" "30" "7" "150644881" "150644881" "subst" "0" "02327" "KCNH2_001223" "g.150644881C>T" "" "" "" "KCNH2(NM_000238.4):c.2778G>A (p.P926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947793C>T" "" "likely benign" "" "0000531216" "0" "90" "7" "150644920" "150644935" "dup" "0" "02330" "KCNH2_001224" "g.150644920_150644935dup" "" "" "" "KCNH2(NM_000238.4):c.2729_2744dupCGGGCCGGGCGGGGGC (p.S918Gfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947832_150947847dup" "" "pathogenic" "" "0000531217" "0" "30" "7" "150644921" "150644921" "subst" "0" "02330" "KCNH2_000997" "g.150644921G>A" "" "" "" "KCNH2(NM_000238.4):c.2738C>T (p.A913V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947833G>A" "" "likely benign" "" "0000531218" "0" "50" "7" "150644942" "150644942" "subst" "7.51968E-5" "02330" "KCNH2_000882" "g.150644942G>A" "" "" "" "KCNH2(NM_000238.3):c.2717C>T (p.S906L), KCNH2(NM_000238.4):c.2717C>T (p.S906L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947854G>A" "" "VUS" "" "0000531219" "0" "70" "7" "150645531" "150645531" "subst" "0" "02330" "KCNH2_001225" "g.150645531C>A" "" "" "" "KCNH2(NM_000238.4):c.2692+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150948443C>A" "" "likely pathogenic" "" "0000531220" "0" "10" "7" "150645534" "150645534" "subst" "0.181908" "02327" "KCNH2_000880" "g.150645534T>G" "" "" "" "KCNH2(NM_000238.4):c.2690A>C (p.K897T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150948446T>G" "" "benign" "" "0000531221" "0" "30" "7" "150645539" "150645539" "subst" "0" "02327" "KCNH2_001226" "g.150645539C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150948451C>A" "" "likely benign" "" "0000531222" "0" "50" "7" "150645544" "150645546" "dup" "0" "02330" "KCNH2_001227" "g.150645544_150645546dup" "" "" "" "KCNH2(NM_000238.4):c.2679_2681dupGCG (p.R894dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150948456_150948458dup" "" "VUS" "" "0000531223" "0" "10" "7" "150645682" "150645682" "subst" "0.621492" "02327" "KCNH2_001228" "g.150645682G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150948594G>A" "" "benign" "" "0000531224" "0" "30" "7" "150645909" "150645909" "subst" "0.00011843" "02327" "KCNH2_001229" "g.150645909G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150948821G>A" "" "likely benign" "" "0000531225" "0" "90" "7" "150646083" "150646083" "subst" "4.06098E-6" "02330" "KCNH2_000802" "g.150646083G>A" "" "" "" "KCNH2(NM_000238.4):c.2453C>T (p.S818L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150948995G>A" "" "pathogenic" "" "0000531226" "0" "30" "7" "150646143" "150646143" "subst" "2.04002E-5" "02327" "KCNH2_001230" "g.150646143G>A" "" "" "" "KCNH2(NM_000238.4):c.2399-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150949055G>A" "" "likely benign" "" "0000531227" "0" "30" "7" "150646158" "150646158" "subst" "0" "02327" "KCNH2_001231" "g.150646158A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150949070A>T" "" "likely benign" "" "0000531228" "0" "30" "7" "150647101" "150647101" "subst" "9.84177E-5" "02327" "KCNH2_001232" "g.150647101G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150950013G>T" "" "likely benign" "" "0000531230" "0" "30" "7" "150647278" "150647278" "subst" "6.91619E-5" "02327" "KCNH2_001178" "g.150647278G>A" "" "" "" "KCNH2(NM_000238.3):c.2376C>T (p.G792=), KCNH2(NM_000238.4):c.2376C>T (p.G792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150950190G>A" "" "likely benign" "" "0000531232" "0" "10" "7" "150647293" "150647293" "subst" "4.06722E-6" "02330" "KCNH2_001235" "g.150647293G>A" "" "" "" "KCNH2(NM_000238.4):c.2361C>T (p.I787=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150950205G>A" "" "benign" "" "0000531233" "0" "30" "7" "150647371" "150647371" "subst" "0" "02326" "KCNH2_001236" "g.150647371T>C" "" "" "" "KCNH2(NM_000238.3):c.2283A>G (p.T761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150950283T>C" "" "likely benign" "" "0000531235" "0" "10" "7" "150647569" "150647569" "subst" "0" "02327" "KCNH2_001027" "g.150647569T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150950481T>C" "" "benign" "" "0000531236" "0" "10" "7" "150647969" "150647969" "subst" "0.236434" "02327" "KCNH2_000938" "g.150647969C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150950881C>T" "" "benign" "" "0000531237" "0" "10" "7" "150647970" "150647970" "subst" "0.236794" "02327" "KCNH2_001237" "g.150647970C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150950882C>G" "" "benign" "" "0000531238" "0" "50" "7" "150648027" "150648027" "subst" "0" "02330" "KCNH2_001238" "g.150648027G>T" "" "" "" "KCNH2(NM_000238.4):c.2127C>A (p.N709K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150950939G>T" "" "VUS" "" "0000531239" "0" "70" "7" "150648073" "150648073" "subst" "0" "02326" "KCNH2_001239" "g.150648073C>T" "" "" "" "KCNH2(NM_000238.3):c.2081G>A (p.R694H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150950985C>T" "" "likely pathogenic" "" "0000531240" "0" "10" "7" "150648198" "150648198" "subst" "0.660945" "02327" "KCNH2_000942" "g.150648198A>G" "" "" "" "KCNH2(NM_000238.3):c.1956T>C (p.Y652=), KCNH2(NM_000238.4):c.1956T>C (p.Y652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951110A>G" "" "benign" "" "0000531241" "0" "10" "7" "150648672" "150648672" "subst" "0.0031843" "02330" "KCNH2_001240" "g.150648672G>A" "" "" "" "KCNH2(NM_000238.4):c.1809C>T (p.G603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951584G>A" "" "benign" "" "0000531242" "0" "10" "7" "150648711" "150648711" "subst" "4.46813E-5" "02330" "KCNH2_001241" "g.150648711G>A" "" "" "" "KCNH2(NM_000238.4):c.1770C>T (p.G590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951623G>A" "" "benign" "" "0000531243" "0" "70" "7" "150648728" "150648728" "subst" "0" "02330" "KCNH2_001242" "g.150648728A>G" "" "" "" "KCNH2(NM_000238.4):c.1753T>C (p.W585R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951640A>G" "" "likely pathogenic" "" "0000531244" "0" "90" "7" "150648737" "150648737" "subst" "0" "02327" "KCNH2_000669" "g.150648737G>A" "" "" "" "KCNH2(NM_000238.4):c.1744C>T (p.R582C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951649G>A" "" "pathogenic" "" "0000531245" "0" "30" "7" "150648768" "150648768" "subst" "2.84373E-5" "02327" "KCNH2_001243" "g.150648768G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951680G>A" "" "likely benign" "" "0000531248" "0" "10" "7" "150648789" "150648789" "subst" "0.477071" "02327" "KCNH2_001066" "g.150648789T>C" "" "" "" "KCNH2(NM_000238.3):c.1692A>G (p.L564=), KCNH2(NM_000238.4):c.1692A>G (p.L564=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951701T>C" "" "benign" "" "0000531249" "0" "10" "7" "150648813" "150648813" "subst" "8.12803E-6" "02330" "KCNH2_001245" "g.150648813G>A" "" "" "" "KCNH2(NM_000238.4):c.1668C>T (p.T556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951725G>A" "" "benign" "" "0000531250" "0" "30" "7" "150648873" "150648873" "subst" "1.69448E-5" "02327" "KCNH2_001246" "g.150648873C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951785C>T" "" "likely benign" "" "0000531251" "0" "90" "7" "150648881" "150648881" "subst" "0" "02330" "KCNH2_000766" "g.150648881G>A" "" "" "" "KCNH2(NM_000238.4):c.1600C>T (p.R534C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951793G>A" "" "pathogenic" "" "0000531253" "0" "10" "7" "150648918" "150648918" "subst" "0.00123237" "02327" "KCNH2_001188" "g.150648918G>A" "" "" "" "KCNH2(NM_000238.3):c.1563C>T (p.I521=), KCNH2(NM_000238.4):c.1563C>T (p.I521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951830G>A" "" "benign" "" "0000531254" "0" "30" "7" "150648929" "150648929" "subst" "1.4323E-5" "02327" "KCNH2_001189" "g.150648929G>A" "" "" "" "KCNH2(NM_000238.3):c.1558-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951841G>A" "" "likely benign" "" "0000531255" "0" "10" "7" "150648986" "150648986" "subst" "0" "02327" "KCNH2_001248" "g.150648986G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951898G>C" "" "benign" "" "0000531256" "0" "10" "7" "150649531" "150649531" "subst" "0.300506" "02327" "KCNH2_000945" "g.150649531G>A" "" "" "" "KCNH2(NM_000238.4):c.1539C>T (p.F513=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150952443G>A" "" "benign" "" "0000531257" "0" "10" "7" "150649542" "150649542" "subst" "0.0014866" "02330" "KCNH2_001249" "g.150649542G>A" "" "" "" "KCNH2(NM_000238.4):c.1528C>T (p.L510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150952454G>A" "" "benign" "" "0000531258" "0" "10" "7" "150649603" "150649603" "subst" "0.301158" "02327" "KCNH2_000944" "g.150649603G>A" "" "" "" "KCNH2(NM_000238.4):c.1467C>T (p.I489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150952515G>A" "" "benign" "" "0000531259" "0" "30" "7" "150649729" "150649729" "subst" "6.11107E-5" "02327" "KCNH2_001250" "g.150649729G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150952641G>A" "" "likely benign" "" "0000531261" "0" "30" "7" "150649959" "150649959" "subst" "0.00154006" "02327" "KCNH2_001193" "g.150649959G>A" "" "" "" "KCNH2(NM_000238.3):c.1129-18C>T, KCNH2(NM_000238.4):c.1129-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150952871G>A" "" "likely benign" "" "0000531262" "0" "30" "7" "150649959" "150649959" "subst" "0.00154006" "02326" "KCNH2_001193" "g.150649959G>A" "" "" "" "KCNH2(NM_000238.3):c.1129-18C>T, KCNH2(NM_000238.4):c.1129-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150952871G>A" "" "likely benign" "" "0000531263" "0" "30" "7" "150652446" "150652447" "del" "0" "02327" "KCNH2_001252" "g.150652446_150652447del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150955358_150955359del" "" "likely benign" "" "0000531264" "0" "10" "7" "150652514" "150652514" "subst" "0.000426808" "02330" "KCNH2_001253" "g.150652514G>A" "" "" "" "KCNH2(NM_001204798.1):c.78C>T (p.(=)), KCNH2(NM_172057.2):c.78C>T (p.A26=), KCNH2(NM_172057.3):c.78C>T (p.A26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150955426G>A" "" "benign" "" "0000531265" "0" "30" "7" "150652514" "150652514" "subst" "0.000426808" "01804" "KCNH2_001253" "g.150652514G>A" "" "" "" "KCNH2(NM_001204798.1):c.78C>T (p.(=)), KCNH2(NM_172057.2):c.78C>T (p.A26=), KCNH2(NM_172057.3):c.78C>T (p.A26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150955426G>A" "" "likely benign" "" "0000531266" "0" "30" "7" "150652514" "150652514" "subst" "0.000426808" "02327" "KCNH2_001253" "g.150652514G>A" "" "" "" "KCNH2(NM_001204798.1):c.78C>T (p.(=)), KCNH2(NM_172057.2):c.78C>T (p.A26=), KCNH2(NM_172057.3):c.78C>T (p.A26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150955426G>A" "" "likely benign" "" "0000531267" "0" "30" "7" "150652568" "150652568" "subst" "0.000122539" "02326" "KCNH2_001209" "g.150652568C>T" "" "" "" "KCNH2(NM_172057.2):c.24G>A (p.A8=), KCNH2(NM_172057.3):c.24G>A (p.A8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150955480C>T" "" "likely benign" "" "0000531268" "0" "10" "7" "150652595" "150652595" "subst" "0.000441198" "02330" "KCNH2_001254" "g.150652595G>A" "" "" "" "KCNH2(NM_172057.3):c.-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150955507G>A" "" "benign" "" "0000531269" "0" "10" "7" "150654366" "150654366" "subst" "0.000127092" "02330" "KCNH2_001255" "g.150654366G>A" "" "" "" "KCNH2(NM_000238.4):c.1128+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150957278G>A" "" "benign" "" "0000531270" "0" "30" "7" "150654468" "150654468" "subst" "0.00108024" "02327" "KCNH2_000145" "g.150654468G>A" "" "" "" "KCNH2(NM_000238.3):c.1039C>T (p.P347S), KCNH2(NM_000238.4):c.1039C>T (p.P347S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150957380G>A" "" "likely benign" "" "0000531273" "0" "50" "7" "150655198" "150655198" "subst" "0.000257865" "02330" "KCNH2_001258" "g.150655198C>T" "" "" "" "KCNH2(NM_000238.4):c.865G>A (p.E289K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958110C>T" "" "VUS" "" "0000531274" "0" "90" "7" "150655201" "150655216" "del" "0" "02326" "KCNH2_001259" "g.150655201_150655216del" "" "" "" "KCNH2(NM_000238.3):c.850_865delTCGGCCGACGACATCG (p.S284Rfs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958113_150958128del" "" "pathogenic" "" "0000531275" "0" "30" "7" "150655250" "150655250" "subst" "0" "02326" "KCNH2_001260" "g.150655250G>T" "" "" "" "KCNH2(NM_000238.3):c.813C>A (p.R271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958162G>T" "" "likely benign" "" "0000531277" "0" "30" "7" "150655391" "150655391" "subst" "0" "02327" "KCNH2_001262" "g.150655391C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958303C>G" "" "likely benign" "" "0000531278" "0" "50" "7" "150655537" "150655537" "subst" "0.000327217" "02330" "KCNH2_000132" "g.150655537G>A" "" "" "" "KCNH2(NM_000238.4):c.526C>T (p.R176W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958449G>A" "" "VUS" "" "0000531279" "0" "50" "7" "150655537" "150655537" "subst" "0.000327217" "02325" "KCNH2_000132" "g.150655537G>A" "" "" "" "KCNH2(NM_000238.4):c.526C>T (p.R176W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958449G>A" "" "VUS" "" "0000531280" "0" "30" "7" "150655596" "150655596" "subst" "0.000111128" "02327" "KCNH2_001199" "g.150655596G>A" "" "" "" "KCNH2(NM_000238.3):c.473-6C>T, KCNH2(NM_000238.4):c.473-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958508G>A" "" "likely benign" "" "0000531281" "0" "30" "7" "150655597" "150655597" "subst" "0" "02327" "KCNH2_001263" "g.150655597G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958509G>T" "" "likely benign" "" "0000531282" "0" "10" "7" "150655624" "150655624" "subst" "0.375887" "02327" "KCNH2_000152" "g.150655624T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958536T>C" "" "benign" "" "0000531283" "0" "10" "7" "150655643" "150655643" "subst" "0" "02327" "KCNH2_001264" "g.150655643G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958555G>A" "" "benign" "" "0000531285" "0" "30" "7" "150671806" "150671806" "subst" "0.000236337" "02330" "KCNH2_001266" "g.150671806C>A" "" "" "" "KCNH2(NM_000238.4):c.300G>T (p.R100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150974718C>A" "" "likely benign" "" "0000531289" "0" "10" "7" "150672034" "150672034" "subst" "0.000440291" "02330" "KCNH2_001268" "g.150672034G>C" "" "" "" "KCNH2(NM_000238.4):c.77-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150974946G>C" "" "benign" "" "0000531290" "0" "30" "7" "150672034" "150672034" "subst" "0.000440291" "02327" "KCNH2_001268" "g.150672034G>C" "" "" "" "KCNH2(NM_000238.4):c.77-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150974946G>C" "" "likely benign" "" "0000531291" "0" "30" "7" "150674951" "150674951" "subst" "0.000576613" "02327" "KCNH2_001206" "g.150674951G>C" "" "" "" "KCNH2(NM_000238.3):c.51C>G (p.T17=), KCNH2(NM_000238.4):c.51C>G (p.T17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150977863G>C" "" "likely benign" "" "0000594762" "0" "70" "7" "150645544" "150645545" "del" "0" "01164" "KCNH2_001271" "g.150645544_150645545del" "" "" "" "" "ACMG grading: PM2,PVS1" "Germline" "" "" "0" "" "" "g.150948456_150948457del" "" "likely pathogenic" "ACMG" "0000594764" "0" "90" "7" "150656685" "150656685" "del" "0" "01164" "KCNH2_000752" "g.150656685del" "" "" "" "" "ACMG grading: PM2,PP1,PVS1" "Germline" "" "rs767521596" "0" "" "" "g.150959597del" "" "pathogenic" "ACMG" "0000610911" "0" "30" "7" "150642497" "150642497" "subst" "0.000315131" "02327" "KCNH2_001272" "g.150642497T>A" "" "" "" "KCNH2(NM_000238.4):c.3436A>T (p.T1146S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150945409T>A" "" "likely benign" "" "0000610912" "0" "30" "7" "150644131" "150644131" "subst" "7.52401E-5" "02327" "KCNH2_000103" "g.150644131C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947043C>T" "" "likely benign" "" "0000610913" "0" "30" "7" "150644404" "150644404" "subst" "0.00344314" "02327" "KCNH2_000939" "g.150644404G>T" "" "" "" "KCNH2(NM_000238.3):c.3152+12C>A, KCNH2(NM_000238.4):c.3152+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947316G>T" "" "likely benign" "" "0000610914" "0" "30" "7" "150644461" "150644461" "subst" "7.86523E-5" "02327" "KCNH2_000694" "g.150644461C>T" "" "" "" "KCNH2(NM_000238.4):c.3107G>A (p.G1036D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947373C>T" "" "likely benign" "" "0000610915" "0" "50" "7" "150644461" "150644461" "subst" "7.86523E-5" "02325" "KCNH2_000694" "g.150644461C>T" "" "" "" "KCNH2(NM_000238.4):c.3107G>A (p.G1036D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947373C>T" "" "VUS" "" "0000610916" "0" "30" "7" "150644505" "150644505" "subst" "0.000334581" "02327" "KCNH2_001162" "g.150644505G>A" "" "" "" "KCNH2(NM_000238.4):c.3063C>T (p.S1021=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947417G>A" "" "likely benign" "" "0000610917" "0" "30" "7" "150644516" "150644516" "subst" "2.6565E-5" "02327" "KCNH2_001163" "g.150644516G>C" "" "" "" "KCNH2(NM_000238.4):c.3052C>G (p.P1018A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947428G>C" "" "likely benign" "" "0000610920" "0" "30" "7" "150647231" "150647231" "subst" "2.43853E-5" "02330" "KCNH2_001276" "g.150647231C>A" "" "" "" "KCNH2(NM_172056.2):c.2423G>T (p.G808V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150950143C>A" "" "likely benign" "" "0000610922" "0" "30" "7" "150648594" "150648594" "subst" "0.000134015" "02327" "KCNH2_001278" "g.150648594G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951506G>A" "" "likely benign" "" "0000610927" "0" "10" "7" "150649717" "150649717" "subst" "0.000580763" "02330" "KCNH2_001285" "g.150649717C>T" "" "" "" "KCNH2(NM_000238.4):c.1353G>A (p.P451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150952629C>T" "" "benign" "" "0000610928" "0" "10" "7" "150649750" "150649750" "subst" "0.00032891" "02330" "KCNH2_001286" "g.150649750C>A" "" "" "" "KCNH2(NM_000238.3):c.1320G>T (p.P440=), KCNH2(NM_000238.4):c.1320G>T (p.P440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150952662C>A" "" "benign" "" "0000610929" "0" "30" "7" "150649751" "150649751" "subst" "1.21819E-5" "02327" "KCNH2_001287" "g.150649751G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150952663G>A" "" "likely benign" "" "0000610931" "0" "30" "7" "150649950" "150649950" "subst" "6.57316E-5" "01943" "KCNH2_001289" "g.150649950G>A" "" "" "" "KCNH2(NM_000238.3):c.1129-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150952862G>A" "" "likely benign" "" "0000610932" "0" "10" "7" "150654623" "150654623" "dup" "0" "02327" "KCNH2_001290" "g.150654623dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150957535dup" "" "benign" "" "0000610933" "0" "30" "7" "150655106" "150655108" "del" "0" "02327" "KCNH2_001291" "g.150655106_150655108del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958018_150958020del" "" "likely benign" "" "0000610934" "0" "30" "7" "150655121" "150655121" "subst" "0" "02327" "KCNH2_001292" "g.150655121C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958033C>A" "" "likely benign" "" "0000610935" "0" "50" "7" "150655174" "150655174" "subst" "0" "02330" "KCNH2_000727" "g.150655174G>A" "" "" "" "KCNH2(NM_000238.3):c.889C>T (p.P297S), KCNH2(NM_000238.4):c.889C>T (p.P297S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958086G>A" "" "VUS" "" "0000610938" "0" "50" "7" "150655393" "150655393" "subst" "0" "02330" "KCNH2_001294" "g.150655393C>G" "" "" "" "KCNH2(NM_000238.4):c.670G>C (p.G224R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958305C>G" "" "VUS" "" "0000610940" "0" "30" "7" "150656680" "150656680" "subst" "0" "02327" "KCNH2_001296" "g.150656680G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150959592G>A" "" "likely benign" "" "0000610941" "0" "30" "7" "150656690" "150656690" "subst" "0.00121245" "02327" "KCNH2_000877" "g.150656690G>A" "" "" "" "KCNH2(NM_000238.3):c.442C>T (p.R148W), KCNH2(NM_000238.4):c.442C>T (p.R148W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150959602G>A" "" "likely benign" "" "0000610942" "0" "30" "7" "150656781" "150656781" "subst" "3.24889E-5" "02327" "KCNH2_001297" "g.150656781G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150959693G>A" "" "likely benign" "" "0000610943" "0" "30" "7" "150671806" "150671806" "subst" "0.000236337" "02327" "KCNH2_001266" "g.150671806C>A" "" "" "" "KCNH2(NM_000238.4):c.300G>T (p.R100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150974718C>A" "" "likely benign" "" "0000610944" "0" "30" "7" "150671830" "150671830" "subst" "3.57795E-5" "02327" "KCNH2_001202" "g.150671830G>A" "" "" "" "KCNH2(NM_000238.4):c.276C>T (p.R92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150974742G>A" "" "likely benign" "" "0000610946" "0" "30" "7" "150675016" "150675017" "ins" "0" "02327" "KCNH2_001299" "g.150675016_150675017insCGGCCGGGC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150977928_150977929insCGGCCGGGC" "" "likely benign" "" "0000610947" "0" "30" "7" "150675053" "150675057" "dup" "0" "02327" "KCNH2_001300" "g.150675053_150675057dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150977965_150977969dup" "" "likely benign" "" "0000621846" "0" "30" "7" "150644929" "150644929" "subst" "0.000145002" "02330" "KCNH2_001274" "g.150644929C>T" "" "" "" "KCNH2(NM_000238.4):c.2730G>A (p.P910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947841C>T" "" "likely benign" "" "0000621847" "0" "70" "7" "150646136" "150646139" "del" "0" "02330" "KCNH2_001275" "g.150646136_150646139del" "" "" "" "KCNH2(NM_000238.4):c.2399-1_2401delGGGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150949048_150949051del" "" "likely pathogenic" "" "0000621848" "0" "50" "7" "150648108" "150648108" "subst" "0" "02330" "KCNH2_001277" "g.150648108C>G" "" "" "" "KCNH2(NM_000238.4):c.2046G>C (p.E682D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951020C>G" "" "VUS" "" "0000621849" "0" "50" "7" "150648685" "150648685" "subst" "4.06147E-6" "02330" "KCNH2_001279" "g.150648685C>T" "" "" "" "KCNH2(NM_000238.4):c.1796G>A (p.S599N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951597C>T" "" "VUS" "" "0000621850" "0" "70" "7" "150648713" "150648713" "subst" "0" "02330" "KCNH2_001281" "g.150648713C>T" "" "" "" "KCNH2(NM_000238.4):c.1768G>A (p.G590S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951625C>T" "" "likely pathogenic" "" "0000621851" "0" "30" "7" "150652514" "150652514" "subst" "0.000426808" "02326" "KCNH2_001253" "g.150652514G>A" "" "" "" "KCNH2(NM_001204798.1):c.78C>T (p.(=)), KCNH2(NM_172057.2):c.78C>T (p.A26=), KCNH2(NM_172057.3):c.78C>T (p.A26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150955426G>A" "" "likely benign" "" "0000621852" "0" "50" "7" "150655492" "150655500" "dup" "0" "02326" "KCNH2_001295" "g.150655492_150655500dup" "" "" "" "KCNH2(NM_000238.3):c.567_575dupCGCCCCGGG (p.P191_A193dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150958404_150958412dup" "" "VUS" "" "0000624936" "0" "50" "7" "150655572" "150655572" "subst" "0" "01164" "KCNH2_001304" "g.150655572C>T" "" "" "" "" "" "Germline" "" "rs199472866" "0" "" "" "g.150958484C>T" "" "VUS" "ACMG" "0000624937" "0" "50" "7" "150655537" "150655537" "subst" "0.000327217" "01164" "KCNH2_000132" "g.150655537G>A" "" "" "" "" "" "Germline" "" "rs36210422" "0" "" "" "g.150958449G>A" "" "VUS" "ACMG" "0000624939" "0" "30" "7" "150656710" "150656710" "subst" "0.000304789" "01164" "KCNH2_001305" "g.150656710G>A" "" "" "" "" "ACMG: BS1,BS2" "Germline" "" "rs199472864" "0" "" "" "g.150959622G>A" "" "likely benign" "ACMG" "0000624940" "0" "50" "7" "150674943" "150674943" "subst" "0" "01164" "KCNH2_000788" "g.150674943C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150977855C>A" "" "VUS" "ACMG" "0000624941" "0" "90" "7" "150647408" "150647408" "subst" "0" "01164" "KCNH2_001303" "g.150647408C>A" "" "" "" "" "ACMG: PS3,PM2,PM5,PP2,PP3" "Germline" "" "rs199472989" "0" "" "" "g.150950320C>A" "" "pathogenic" "ACMG" "0000625581" "0" "50" "7" "150645571" "150645571" "subst" "0.000216858" "01164" "KCNH2_000888" "g.150645571G>A" "" "" "" "" "ACMG: PP3,BS1" "Germline" "?" "" "0" "" "" "g.150948483G>A" "" "VUS" "ACMG" "0000625582" "0" "30" "7" "150644715" "150644715" "subst" "4.99081E-5" "01164" "KCNH2_001302" "g.150644715C>T" "" "" "" "" "BP4 / ACMG class 3" "Germline" "?" "" "0" "" "" "g.150947627C>T" "" "VUS" "ACMG" "0000625583" "0" "30" "7" "150644548" "150644548" "subst" "0" "01164" "KCNH2_001301" "g.150644548C>T" "" "" "" "" "ACMG: PM2,BP4" "Germline" "?" "" "0" "" "" "g.150947460C>T" "" "VUS" "ACMG" "0000626412" "0" "90" "7" "150656685" "150656685" "dup" "0" "01164" "KCNH2_000751" "g.150656685dup" "" "" "" "" "ACMG: PVS1,PM2,PP1" "Germline" "" "rs761863251" "0" "" "" "g.150959597dup" "" "pathogenic" "ACMG" "0000626413" "0" "50" "7" "150654468" "150654468" "subst" "0.00108024" "01164" "KCNH2_000145" "g.150654468G>A" "" "" "" "" "" "Germline" "" "rs138776684" "0" "" "" "g.150957380G>A" "" "VUS" "ACMG" "0000626441" "0" "50" "7" "150654515" "150654515" "subst" "0" "01164" "KCNH2_001311" "g.150654515C>A" "" "" "" "" "ACMG: PM2,PP3" "Germline" "" "" "0" "" "" "g.150957427C>A" "" "VUS" "ACMG" "0000626442" "0" "50" "7" "150644925" "150644925" "subst" "0" "01164" "KCNH2_001307" "g.150644925G>A" "" "" "" "" "" "Germline" "" "rs577847157" "0" "" "" "g.150947837G>A" "" "VUS" "ACMG" "0000626443" "0" "50" "7" "150655537" "150655537" "subst" "0.000327217" "01164" "KCNH2_000132" "g.150655537G>A" "" "" "" "" "" "Germline" "" "rs36210422" "0" "" "" "g.150958449G>A" "" "VUS" "ACMG" "0000626445" "0" "50" "7" "150645564" "150645564" "subst" "0" "01164" "KCNH2_001308" "g.150645564C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150948476C>G" "" "VUS" "ACMG" "0000626446" "0" "50" "7" "150654468" "150654468" "subst" "0.00108024" "01164" "KCNH2_000145" "g.150654468G>A" "" "" "" "" "" "Germline" "" "rs138776684" "0" "" "" "g.150957380G>A" "" "VUS" "ACMG" "0000626447" "0" "50" "7" "150644711" "150644711" "subst" "0.000128655" "01164" "KCNH2_000981" "g.150644711G>A" "" "" "" "" "" "Germline" "" "rs149955375" "0" "" "" "g.150947623G>A" "" "VUS" "ACMG" "0000626448" "0" "50" "7" "150644921" "150644921" "subst" "0" "01164" "KCNH2_000997" "g.150644921G>A" "" "" "" "" "" "Germline" "" "rs77331749" "0" "" "" "g.150947833G>A" "" "VUS" "ACMG" "0000626449" "0" "50" "7" "150644952" "150644952" "subst" "0.000140077" "01164" "KCNH2_001168" "g.150644952C>T" "" "" "" "" "" "Germline" "" "rs199473669" "0" "" "" "g.150947864C>T" "" "VUS" "ACMG" "0000626450" "0" "50" "7" "150647283" "150647283" "subst" "8.1369E-5" "01164" "KCNH2_001309" "g.150647283G>A" "" "" "" "" "" "Germline" "" "rs138498207" "0" "" "" "g.150950195G>A" "" "VUS" "ACMG" "0000626451" "0" "50" "7" "150644799" "150644799" "subst" "3.29366E-5" "01164" "KCNH2_000886" "g.150644799G>A" "" "" "" "" "ACMG: PS3,PM2,PP3,PP5" "Germline" "" "rs141401803" "0" "" "" "g.150947711G>A" "" "VUS" "ACMG" "0000626452" "0" "50" "7" "150642476" "150642476" "subst" "5.44965E-5" "01164" "KCNH2_000956" "g.150642476G>A" "" "" "" "" "" "Germline" "" "rs199473035" "0" "" "" "g.150945388G>A" "" "VUS" "ACMG" "0000626453" "0" "50" "7" "150644888" "150644888" "subst" "0" "01164" "KCNH2_001306" "g.150644888C>G" "" "" "" "" "" "Germline" "" "rs199473009" "0" "" "" "g.150947800C>G" "" "VUS" "ACMG" "0000626454" "0" "50" "7" "150647397" "150647397" "subst" "4.07465E-6" "01164" "KCNH2_001310" "g.150647397C>A" "" "" "" "" "" "Germline" "" "rs199472991" "0" "" "" "g.150950309C>A" "" "VUS" "ACMG" "0000626455" "0" "50" "7" "150654573" "150654573" "subst" "0.000114129" "01164" "KCNH2_001104" "g.150654573G>A" "" "" "" "" "ACMG: BS1,PP3" "Germline" "" "rs199472885" "0" "" "" "g.150957485G>A" "" "VUS" "ACMG" "0000626479" "0" "50" "7" "150644711" "150644711" "subst" "0.000128655" "01164" "KCNH2_000981" "g.150644711G>A" "" "" "" "" "" "Germline" "" "rs149955375" "0" "" "" "g.150947623G>A" "" "VUS" "ACMG" "0000626480" "0" "50" "7" "150654468" "150654468" "subst" "0.00108024" "01164" "KCNH2_000145" "g.150654468G>A" "" "" "" "" "Amendola et al. 2015. Genome Res 25: 305; Anderson et al. 2006. Circulation 113: 365; Dorschner et al. 2013. Am J Hum Genet 93: 631; Ghouse et al. 2015. Eur Heart J 36: 2523; Giudicessi et al. 2012. Circ Cardiovasc Genet 5: 519; Jou et al. 2013. Circ Res 112: 826; Novotny et al. 2011. Pacing Clin Electrophysiol 34: 742" "Germline" "" "rs138776684" "0" "" "" "g.150957380G>A" "" "VUS" "ACMG" "0000626495" "0" "50" "7" "150655198" "150655198" "subst" "0.000257865" "01164" "KCNH2_001258" "g.150655198C>T" "" "" "" "" "ACMG: BP4,PM2" "Germline" "" "rs199472880" "0" "" "" "g.150958110C>T" "" "VUS" "ACMG" "0000626499" "0" "70" "7" "150644890" "150644890" "dup" "0" "01164" "KCNH2_000676" "g.150644890dup" "" "" "" "" "ACMG: PM2,PVS1; The c.2775dupG pathogenic variant i n the KCNH2 gene has been published in association with LQTS (Splawski et al., 2000; Nof et al., 2010; Za rraga et al., 2011). This variant c auses a shift in reading frame star ting at codon proline 926, changing it to an alanine, and creates a pr emature stop codon at position 14 o f the new reading frame, denoted p. Pro926AlafsX14. This pathogenic var iant is expected to result in eithe r an abnormal, truncated protein pr oduct or loss of protein from this allele through nonsense-mediated mR NA decay. Splawski et al. (2000) in itially identified the c.2775dupG p athogenic variant in one individual diagnosed with LQTS. Subsequently, Nof et al. (2010) detected this va riant in trans with the K897T polym orphism in an infant with ventricul ar tachycardia in utero and sudden death at 2 days of life. The c.2775 dupG pathogenic variant was materna lly inherited and also identified i n a sibling, both were mildly affec ted. In vitro functional analysis s howed an exaggerated deleterious ef fect on channel function when in tr ans with the K897T polymorphism, ex plaining the more severe presentati on in the infant. Following this re port, the c.2775dupG pathogenic var iant was found to segregate with a LQTS phenotype in a large family (Z arraga et al., 2011). Furthermore, mRNA and immunoblot studies showed significantly reduced product, sugg esting nonsense-mediated decay, and in vitro analysis corroborated a d amaging effect to channel function (Zarraga et al., 2011). This pathog enic variant has been observed in m ultiple other unrelated individuals referred for LQTS genetic testing at GeneDx. Lastly, this variant is not observed in large population co horts (Lek et al., 2016). In summar y, c.2775dupG in the KCNH2 gene is interpreted as a pathogenic variant; Splawski et al. 2000. Circulation 102: 1178; Nof et al. 2010. Circ Cardiovasc Genet 3: 199; Zarraga et al. 2011. Heart Rhythm 8: 1200" "Germline" "" "rs794728455" "0" "" "" "g.150947802dup" "" "likely pathogenic" "ACMG" "0000644175" "0" "50" "7" "150649763" "150649763" "subst" "2.43649E-5" "01807" "KCNH2_001083" "g.150649763G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.150952675G>A" "" "VUS" "" "0000652209" "1" "50" "7" "150642463" "150642463" "subst" "1.50948E-5" "03575" "KCNH2_001312" "g.150642463G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs143167166}" "Germline" "" "rs143167166" "0" "" "" "g.150945375G>A" "" "VUS" "" "0000652210" "1" "50" "7" "150644461" "150644461" "subst" "7.86523E-5" "03575" "KCNH2_000694" "g.150644461C>T" "2/2783 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs199473022}" "Germline" "" "rs199473022" "0" "" "" "g.150947373C>T" "" "VUS" "" "0000652211" "1" "90" "7" "150644474" "150644474" "del" "0" "03575" "KCNH2_000975" "g.150644474del" "2/2774 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININKCNH2-chr7-150644474}" "Germline" "" "" "0" "" "" "g.150947386del" "" "pathogenic" "" "0000652212" "1" "50" "7" "150644772" "150644772" "subst" "0" "03575" "KCNH2_001313" "g.150644772G>T" "11/2701 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs199473014}" "Germline" "" "rs199473014" "0" "" "" "g.150947684G>T" "" "VUS" "" "0000652213" "1" "50" "7" "150644816" "150644816" "subst" "3.72509E-5" "03575" "KCNH2_000798" "g.150644816C>T" "2/2782 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs199473011}" "Germline" "" "rs199473011" "0" "" "" "g.150947728C>T" "" "VUS" "" "0000652214" "1" "50" "7" "150645550" "150645550" "subst" "0.000464153" "03575" "KCNH2_000883" "g.150645550G>A" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; {DB:CLININrs201627778}" "Germline" "" "rs201627778" "0" "" "" "g.150948462G>A" "" "VUS" "" "0000652215" "1" "50" "7" "150649545" "150649545" "subst" "4.06164E-6" "03575" "KCNH2_001317" "g.150649545C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs370637245}" "Germline" "" "rs370637245" "0" "" "" "g.150952457C>T" "" "VUS" "" "0000652216" "1" "90" "7" "150649806" "150649806" "subst" "0" "03575" "KCNH2_001087" "g.150649806C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199472895}" "Germline" "" "rs199472895" "0" "" "" "g.150952718C>T" "" "pathogenic" "" "0000652217" "1" "90" "7" "150649930" "150649930" "del" "0" "03575" "KCNH2_001318" "g.150649930del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728497}" "Germline" "" "rs794728497" "0" "" "" "g.150952842del" "" "pathogenic" "" "0000652218" "1" "70" "7" "150649942" "150649942" "subst" "0" "03575" "KCNH2_000719" "g.150649942C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs794728478}" "Germline" "" "rs794728478" "0" "" "" "g.150952854C>T" "" "likely pathogenic" "" "0000652219" "1" "90" "7" "150649943" "150649943" "subst" "0" "03575" "KCNH2_001096" "g.150649943T>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728365}" "Germline" "" "rs794728365" "0" "" "" "g.150952855T>C" "" "pathogenic" "" "0000652220" "1" "50" "7" "150654525" "150654525" "subst" "0.00057748" "03575" "KCNH2_001101" "g.150654525G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs199473505}" "Germline" "" "rs199473505" "0" "" "" "g.150957437G>A" "" "VUS" "" "0000652221" "1" "50" "7" "150655198" "150655198" "subst" "0.000257865" "03575" "KCNH2_001258" "g.150655198C>T" "6/2745 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs199472880}" "Germline" "" "rs199472880" "0" "" "" "g.150958110C>T" "" "VUS" "" "0000652222" "1" "90" "7" "150655237" "150655237" "del" "0" "03575" "KCNH2_001319" "g.150655237del" "7/2728 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs794728422}" "Germline" "" "rs794728422" "0" "" "" "g.150958149del" "" "pathogenic" "" "0000652223" "1" "50" "7" "150655537" "150655537" "subst" "0.000327217" "03575" "KCNH2_000132" "g.150655537G>A" "18/2759 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "risk factor; 18 heterozygous; {DB:CLININrs36210422}" "Germline" "" "rs36210422" "0" "" "" "g.150958449G>A" "" "VUS" "" "0000652224" "1" "50" "7" "150655572" "150655572" "subst" "0" "03575" "KCNH2_001304" "g.150655572C>T" "13/2782 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs199472866}" "Germline" "" "rs199472866" "0" "" "" "g.150958484C>T" "" "VUS" "" "0000652225" "1" "50" "7" "150656710" "150656710" "subst" "0.000304789" "03575" "KCNH2_001305" "g.150656710G>A" "1/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs199472864}" "Germline" "" "rs199472864" "0" "" "" "g.150959622G>A" "" "VUS" "" "0000652226" "1" "50" "7" "150674958" "150674958" "subst" "0" "03575" "KCNH2_001321" "g.150674958A>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs794728418}" "Germline" "" "rs794728418" "0" "" "" "g.150977870A>T" "" "VUS" "" "0000653074" "1" "30" "7" "150648600" "150648600" "subst" "8.93394E-5" "03575" "KCNH2_001315" "g.150648600G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199473039.2}" "Germline" "" "rs199473039" "0" "" "" "g.150951512G>A" "" "likely benign" "" "0000653075" "1" "50" "7" "150648777" "150648777" "subst" "0" "03575" "KCNH2_000906" "g.150648777C>A" "1/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 heterozygous, no homozygous; {DB:CLININrs199472926.2}" "Germline" "" "rs199472926" "0" "" "" "g.150951689C>A" "" "VUS" "" "0000653076" "1" "90" "7" "150671942" "150671942" "subst" "0" "03575" "KCNH2_001147" "g.150671942G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199472844}" "Germline" "" "rs199472844" "0" "" "" "g.150974854G>A" "" "pathogenic" "" "0000653176" "1" "50" "7" "150644889" "150644889" "subst" "0" "03575" "KCNH2_001314" "g.150644889C>T" "4/2759 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous; {DB:CLININrs794728397}" "Germline" "" "rs794728397" "0" "" "" "g.150947801C>T" "" "VUS" "" "0000653177" "1" "70" "7" "150648680" "150648680" "subst" "0" "03575" "KCNH2_000837" "g.150648680C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199472936}" "Germline" "" "rs199472936" "0" "" "" "g.150951592C>T" "" "likely pathogenic" "" "0000653178" "1" "50" "7" "150648881" "150648881" "subst" "0" "03575" "KCNH2_001316" "g.150648881G>T" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs199472916.1}" "Germline" "" "rs199472916" "0" "" "" "g.150951793G>T" "" "VUS" "" "0000653227" "1" "50" "7" "150672024" "150672024" "subst" "0" "03575" "KCNH2_001156" "g.150672024T>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 heterozygous, no homozygous; {DB:CLININrs794728475}" "Germline" "" "rs794728475" "0" "" "" "g.150974936T>C" "" "VUS" "" "0000653332" "1" "90" "7" "150655254" "150655255" "ins" "0" "03575" "KCNH2_001320" "g.150655254_150655255insCTTTT" "8/2738 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs794728426}" "Germline" "" "rs794728426" "0" "" "" "g.150958166_150958167insCTTTT" "" "pathogenic" "" "0000655778" "0" "10" "7" "150644586" "150644586" "subst" "0" "02330" "KCNH2_001322" "g.150644586C>G" "" "" "" "KCNH2(NM_000238.4):c.2982G>C (p.V994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150947498C>G" "" "benign" "" "0000655779" "0" "30" "7" "150645607" "150645607" "subst" "0.000175437" "02325" "KCNH2_001005" "g.150645607C>T" "" "" "" "KCNH2(NM_000238.4):c.2617G>A (p.G873S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150948519C>T" "" "likely benign" "" "0000655780" "0" "30" "7" "150645617" "150645617" "subst" "1.63212E-5" "02326" "KCNH2_001323" "g.150645617C>T" "" "" "" "KCNH2(NM_000238.3):c.2607G>A (p.P869=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150948529C>T" "" "likely benign" "" "0000655781" "0" "10" "7" "150648918" "150648918" "subst" "0.00123237" "01943" "KCNH2_001188" "g.150648918G>A" "" "" "" "KCNH2(NM_000238.3):c.1563C>T (p.I521=), KCNH2(NM_000238.4):c.1563C>T (p.I521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150951830G>A" "" "benign" "" "0000669953" "3" "50" "7" "150655537" "150655537" "subst" "0.000327217" "03575" "KCNH2_000132" "g.150655537G>A" "6/2759 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "risk factor; 6 homozygous; {DB:CLININrs36210422}" "Germline" "" "rs36210422" "0" "" "" "g.150958449G>A" "" "VUS" "" "0000670157" "3" "50" "7" "150644889" "150644889" "subst" "0" "03575" "KCNH2_001314" "g.150644889C>T" "1/2759 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs794728397}" "Germline" "" "rs794728397" "0" "" "" "g.150947801C>T" "" "VUS" "" "0000678019" "0" "30" "7" "150642497" "150642497" "subst" "0.000315131" "02330" "KCNH2_001272" "g.150642497T>A" "" "" "" "KCNH2(NM_000238.4):c.3436A>T (p.T1146S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678020" "0" "10" "7" "150643947" "150643947" "dup" "0" "02330" "KCNH2_001324" "g.150643947dup" "" "" "" "KCNH2(NM_000238.4):c.3330+19dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678021" "0" "90" "7" "150646069" "150646069" "subst" "4.06095E-6" "02330" "KCNH2_000800" "g.150646069G>A" "" "" "" "KCNH2(NM_000238.4):c.2467C>T (p.R823W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678022" "0" "30" "7" "150647246" "150647246" "del" "0" "02327" "KCNH2_001325" "g.150647246del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678023" "0" "90" "7" "150648737" "150648737" "subst" "0" "02325" "KCNH2_000669" "g.150648737G>A" "" "" "" "KCNH2(NM_000238.4):c.1744C>T (p.R582C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678025" "0" "30" "7" "150648846" "150648846" "subst" "0.000159323" "02327" "KCNH2_001327" "g.150648846G>A" "" "" "" "KCNH2(NM_000238.4):c.1635C>T (p.Y545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678026" "0" "30" "7" "150655305" "150655305" "subst" "0" "02327" "KCNH2_001328" "g.150655305G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678027" "0" "70" "7" "150655381" "150655388" "del" "0" "02327" "KCNH2_001329" "g.150655381_150655388del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678028" "0" "50" "7" "150655537" "150655537" "subst" "0.000327217" "02327" "KCNH2_000132" "g.150655537G>A" "" "" "" "KCNH2(NM_000238.4):c.526C>T (p.R176W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678029" "0" "50" "7" "150656741" "150656741" "subst" "0" "02330" "KCNH2_001330" "g.150656741C>T" "" "" "" "KCNH2(NM_000238.4):c.391G>A (p.V131M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689942" "0" "90" "7" "150644920" "150644935" "del" "0" "02330" "KCNH2_001331" "g.150644920_150644935del" "" "" "" "KCNH2(NM_000238.4):c.2729_2744delCGGGCCGGGCGGGGGC (p.P910Qfs*59)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689943" "0" "30" "7" "150645608" "150645608" "subst" "2.85658E-5" "02330" "KCNH2_001332" "g.150645608G>A" "" "" "" "KCNH2(NM_000238.4):c.2616C>T (p.P872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689944" "0" "50" "7" "150647052" "150647052" "subst" "0" "02330" "KCNH2_001333" "g.150647052C>T" "" "" "" "KCNH2(NM_172056.2):c.2602G>A (p.G868S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689945" "0" "30" "7" "150647278" "150647278" "subst" "6.91619E-5" "02326" "KCNH2_001178" "g.150647278G>A" "" "" "" "KCNH2(NM_000238.3):c.2376C>T (p.G792=), KCNH2(NM_000238.4):c.2376C>T (p.G792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689946" "0" "10" "7" "150648918" "150648918" "subst" "0.00123237" "02326" "KCNH2_001188" "g.150648918G>A" "" "" "" "KCNH2(NM_000238.3):c.1563C>T (p.I521=), KCNH2(NM_000238.4):c.1563C>T (p.I521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689947" "0" "50" "7" "150652587" "150652587" "subst" "0" "02330" "KCNH2_001334" "g.150652587G>A" "" "" "" "KCNH2(NM_172057.3):c.5C>T (p.A2V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000701754" "0" "90" "7" "150644732" "150644732" "del" "0" "00006" "KCNH2_001335" "g.150644732del" "" "{PMID:Haskell 2017:28611029}" "" "2927delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000701756" "0" "50" "7" "150654468" "150654468" "subst" "0.00108024" "00006" "KCNH2_000145" "g.150654468G>A" "" "{PMID:Haskell 2017:28611029}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000704355" "0" "50" "7" "150648172" "150648172" "subst" "0" "00006" "KCNH2_001336" "g.150648172G>A" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.150951084G>A" "" "VUS" "ACMG" "0000708724" "21" "50" "7" "150643979" "150643979" "subst" "0" "00006" "KCNH2_001337" "g.150643979C>T" "" "{PMID:Vissers 2010:21076407}" "" "hg18 150274912C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000721340" "0" "50" "7" "150642529" "150642529" "subst" "0" "01943" "KCNH2_001338" "g.150642529C>T" "" "" "" "KCNH2(NM_000238.3):c.3404G>A (p.R1135H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721341" "0" "50" "7" "150644711" "150644711" "subst" "0.000128655" "01943" "KCNH2_000981" "g.150644711G>A" "" "" "" "KCNH2(NM_000238.3):c.2948C>T (p.T983I), KCNH2(NM_000238.4):c.2948C>T (p.(Thr983Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721342" "0" "50" "7" "150644796" "150644796" "subst" "2.10646E-5" "02330" "KCNH2_001339" "g.150644796G>C" "" "" "" "KCNH2(NM_000238.4):c.2863C>G (p.L955V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721343" "0" "50" "7" "150644916" "150644916" "subst" "0" "02330" "KCNH2_001340" "g.150644916C>T" "" "" "" "KCNH2(NM_000238.4):c.2743G>A (p.A915T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721344" "0" "50" "7" "150644952" "150644952" "subst" "0.000140077" "01943" "KCNH2_001168" "g.150644952C>T" "" "" "" "KCNH2(NM_000238.3):c.2707G>A (p.G903R), KCNH2(NM_000238.4):c.2707G>A (p.G903R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721345" "0" "50" "7" "150654525" "150654525" "subst" "0.00057748" "01943" "KCNH2_001101" "g.150654525G>A" "" "" "" "KCNH2(NM_000238.3):c.982C>T (p.R328C), KCNH2(NM_000238.4):c.982C>T (p.R328C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721346" "0" "30" "7" "150656690" "150656690" "subst" "0.00121245" "01943" "KCNH2_000877" "g.150656690G>A" "" "" "" "KCNH2(NM_000238.3):c.442C>T (p.R148W), KCNH2(NM_000238.4):c.442C>T (p.R148W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721347" "0" "50" "7" "150674986" "150674986" "subst" "0" "02330" "KCNH2_001341" "g.150674986C>T" "" "" "" "KCNH2(NM_000238.4):c.16G>A (p.G6S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000783235" "0" "90" "7" "149665917" "150777829" "del" "0" "00006" "FASTK_000004" "g.149665917_150777829del" "" "{PMID:Singer 2021:32973354}" "" "" "795kb deletion incl. KCNH2, 5\' breakpoint in ACTR3C gene" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000802987" "0" "50" "7" "150644474" "150644474" "subst" "9.20119E-5" "02325" "KCNH2_001342" "g.150644474G>A" "" "" "" "KCNH2(NM_000238.4):c.3094C>T (p.R1032W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802988" "0" "10" "7" "150644881" "150644881" "subst" "0" "02330" "KCNH2_001223" "g.150644881C>T" "" "" "" "KCNH2(NM_000238.4):c.2778G>A (p.P926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802989" "0" "50" "7" "150644942" "150644942" "subst" "7.51968E-5" "02326" "KCNH2_000882" "g.150644942G>A" "" "" "" "KCNH2(NM_000238.3):c.2717C>T (p.S906L), KCNH2(NM_000238.4):c.2717C>T (p.S906L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802990" "0" "50" "7" "150645577" "150645577" "subst" "2.85987E-5" "02326" "KCNH2_001343" "g.150645577G>A" "" "" "" "KCNH2(NM_000238.3):c.2647C>T (p.(Arg883Trp), p.R883W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802991" "0" "50" "7" "150645598" "150645598" "subst" "0" "02325" "KCNH2_001344" "g.150645598C>T" "" "" "" "KCNH2(NM_000238.4):c.2626G>A (p.E876K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802992" "0" "50" "7" "150648823" "150648823" "subst" "0" "02326" "KCNH2_001345" "g.150648823A>G" "" "" "" "KCNH2(NM_000238.3):c.1658T>C (p.L553P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802993" "0" "90" "7" "150654414" "150654414" "subst" "0" "02330" "KCNH2_001346" "g.150654414C>A" "" "" "" "KCNH2(NM_000238.4):c.1093G>T (p.E365*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802994" "0" "30" "7" "150655246" "150655246" "subst" "0" "02326" "KCNH2_001347" "g.150655246G>T" "" "" "" "KCNH2(NM_000238.3):c.817C>A (p.R273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000840979" "0" "90" "7" "150649512" "150649512" "subst" "0" "03779" "KCNH2_001348" "g.150649512C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs886039043" "0" "" "" "" "" "pathogenic" "" "0000851508" "0" "30" "7" "150644079" "150644079" "subst" "0.000233306" "02327" "KCNH2_001349" "g.150644079C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851509" "0" "10" "7" "150645525" "150645525" "subst" "0.0154107" "02327" "KCNH2_001171" "g.150645525G>C" "" "" "" "KCNH2(NM_000238.4):c.2692+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851510" "0" "50" "7" "150647271" "150647271" "subst" "8.13471E-6" "02327" "KCNH2_001350" "g.150647271C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851511" "0" "10" "7" "150648027" "150648027" "subst" "0.000142153" "02330" "KCNH2_001351" "g.150648027G>A" "" "" "" "KCNH2(NM_000238.4):c.2127C>T (p.N709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851512" "0" "90" "7" "150648092" "150648092" "subst" "0" "02326" "KCNH2_000860" "g.150648092G>A" "" "" "" "KCNH2(NM_000238.3):c.2062C>T (p.Q688*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851513" "0" "90" "7" "150648547" "150648547" "dup" "0" "02330" "KCNH2_001352" "g.150648547dup" "" "" "" "KCNH2(NM_000238.4):c.1934dupT (p.M645Ifs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851514" "0" "30" "7" "150648928" "150648928" "subst" "0.00157854" "02327" "KCNH2_001353" "g.150648928G>A" "" "" "" "KCNH2(NM_000238.4):c.1558-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851515" "0" "50" "7" "150649599" "150649599" "subst" "0.000117759" "02330" "KCNH2_001354" "g.150649599C>T" "" "" "" "KCNH2(NM_000238.4):c.1471G>A (p.V491I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851516" "0" "50" "7" "150654572" "150654572" "subst" "1.22231E-5" "02330" "KCNH2_001256" "g.150654572C>T" "" "" "" "KCNH2(NM_000238.4):c.935G>A (p.R312H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851518" "0" "10" "7" "150655309" "150655309" "subst" "0" "02330" "KCNH2_001357" "g.150655309G>T" "" "" "" "KCNH2(NM_000238.4):c.754C>A (p.R252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851520" "0" "30" "7" "150655344" "150655344" "subst" "0" "02327" "KCNH2_001358" "g.150655344G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851521" "0" "70" "7" "150671915" "150671915" "subst" "0" "02326" "KCNH2_000776" "g.150671915C>T" "" "" "" "KCNH2(NM_000238.3):c.191G>A (p.C64Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860684" "0" "90" "7" "150645612" "150645612" "del" "0" "02330" "KCNH2_000684" "g.150645612del" "" "" "" "KCNH2(NM_000238.4):c.2616delC (p.G873Afs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860685" "0" "90" "7" "150654381" "150654381" "subst" "0" "02330" "KCNH2_001355" "g.150654381G>A" "" "" "" "KCNH2(NM_000238.4):c.1126C>T (p.Q376*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000878888" "0" "90" "7" "150648592" "150648592" "subst" "0" "04384" "KCNH2_001360" "g.150648592A>C" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000881363" "0" "70" "7" "150671855" "150671855" "subst" "0" "02300" "KCNH2_001361" "g.150671855T>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.150974767T>C" "" "likely pathogenic" "ACMG" "0000887726" "0" "50" "7" "150642563" "150642563" "subst" "0" "02326" "KCNH2_001363" "g.150642563C>T" "" "" "" "KCNH2(NM_000238.3):c.3370G>A (p.A1124T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887727" "0" "30" "7" "150644044" "150644044" "subst" "4.94482E-5" "02327" "KCNH2_001364" "g.150644044G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887728" "0" "10" "7" "150644428" "150644428" "subst" "0.0162168" "02325" "KCNH2_000903" "g.150644428C>A" "" "" "" "KCNH2(NM_000238.3):c.3140G>T (p.R1047L), KCNH2(NM_000238.4):c.3140G>T (p.R1047L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887729" "0" "90" "7" "150644772" "150644772" "dup" "0" "02330" "KCNH2_000797" "g.150644772dup" "" "" "" "KCNH2(NM_000238.4):c.2892dupC (p.G965Rfs*154)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887730" "0" "90" "7" "150644890" "150644890" "dup" "0" "02330" "KCNH2_000676" "g.150644890dup" "" "" "" "KCNH2(NM_000238.4):c.2775dupG (p.P926Afs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887731" "0" "50" "7" "150644901" "150644901" "subst" "0" "02330" "KCNH2_001365" "g.150644901G>C" "" "" "" "KCNH2(NM_000238.4):c.2758C>G (p.R920G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887732" "0" "90" "7" "150647300" "150647300" "subst" "0" "02325" "KCNH2_001179" "g.150647300C>A" "" "" "" "KCNH2(NM_000238.4):c.2354G>T (p.G785V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887733" "0" "10" "7" "150652610" "150652610" "subst" "0.00279045" "02330" "KCNH2_001366" "g.150652610C>T" "" "" "" "KCNH2(NM_172057.3):c.-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887734" "0" "30" "7" "150654525" "150654525" "subst" "0.00057748" "02330" "KCNH2_001101" "g.150654525G>A" "" "" "" "KCNH2(NM_000238.3):c.982C>T (p.R328C), KCNH2(NM_000238.4):c.982C>T (p.R328C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887735" "0" "90" "7" "150655331" "150655331" "del" "0" "02330" "KCNH2_001367" "g.150655331del" "" "" "" "KCNH2(NM_000238.4):c.732delG (p.G246Afs*114)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887736" "0" "50" "7" "150655368" "150655368" "subst" "1.27184E-5" "02330" "KCNH2_001368" "g.150655368C>G" "" "" "" "KCNH2(NM_000238.4):c.695G>C (p.R232P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887737" "0" "30" "7" "150655442" "150655442" "subst" "0.000350073" "02330" "KCNH2_001369" "g.150655442G>A" "" "" "" "KCNH2(NM_000238.4):c.621C>T (p.S207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887739" "0" "10" "7" "150655595" "150655595" "subst" "0" "02330" "KCNH2_001371" "g.150655595G>A" "" "" "" "KCNH2(NM_000238.4):c.473-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887740" "0" "70" "7" "150671909" "150671909" "subst" "0" "02330" "KCNH2_001372" "g.150671909C>T" "" "" "" "KCNH2(NM_000238.4):c.197G>A (p.C66Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000908419" "0" "50" "7" "150648668" "150648668" "subst" "0" "03779" "KCNH2_001373" "g.150648668G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000908891" "0" "90" "7" "150646165" "150646165" "del" "0" "00006" "KCNH2_001374" "g.150646165del" "" "{PMID:Bournazos 2022:34906502}" "" "" "isoform switch, loss of expression long KCNH2 isoforms NM_172057.2;NM_000238.4, transcripts terminates at alternative 3\'UTR NM_172056.2; NM_001204798.2" "Germline" "" "" "0" "" "" "g.150949077del" "" "pathogenic (dominant)" "" "0000908910" "0" "70" "7" "150654364" "150654374" "delins" "0" "00006" "KCNH2_001375" "g.150654364_150654374delinsGT" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.150957276_150957286delinsGT" "" "likely pathogenic (dominant)" "" "0000912681" "0" "90" "7" "150644473" "150644473" "del" "0" "02325" "KCNH2_001376" "g.150644473del" "" "" "" "KCNH2(NM_000238.4):c.3096delG (p.R1033Gfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912682" "0" "90" "7" "150648604" "150648604" "subst" "0" "02330" "KCNH2_001377" "g.150648604C>A" "" "" "" "KCNH2(NM_000238.4):c.1877G>T (p.G626V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912683" "0" "10" "7" "150648837" "150648837" "subst" "3.25757E-5" "02330" "KCNH2_001378" "g.150648837G>A" "" "" "" "KCNH2(NM_000238.4):c.1644C>T (p.A548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000920718" "0" "70" "7" "150655201" "150655216" "del" "0" "03779" "KCNH2_001259" "g.150655201_150655216del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000924670" "0" "50" "7" "150647477" "150647477" "subst" "0" "02330" "KCNH2_001382" "g.150647477G>A" "" "" "" "KCNH2(NM_000238.4):c.2177C>T (p.A726V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924671" "0" "10" "7" "150648180" "150648180" "subst" "3.67458E-5" "02330" "KCNH2_001383" "g.150648180G>A" "" "" "" "KCNH2(NM_000238.4):c.1974C>T (p.N658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924672" "0" "90" "7" "150648737" "150648737" "subst" "0" "02330" "KCNH2_000669" "g.150648737G>A" "" "" "" "KCNH2(NM_000238.4):c.1744C>T (p.R582C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924673" "0" "50" "7" "150654548" "150654548" "subst" "4.07229E-6" "02330" "KCNH2_001384" "g.150654548G>C" "" "" "" "KCNH2(NM_000238.4):c.959C>G (p.S320W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929308" "0" "10" "7" "150644493" "150644493" "subst" "0" "02330" "KCNH2_001217" "g.150644493G>A" "" "" "" "KCNH2(NM_000238.4):c.3075C>T (p.I1025=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929309" "0" "90" "7" "150644605" "150644605" "subst" "0" "02330" "KCNH2_000710" "g.150644605G>C" "" "" "" "KCNH2(NM_000238.3):c.2966-3C>G, KCNH2(NM_000238.4):c.2966-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929311" "0" "10" "7" "150648928" "150648928" "subst" "0.00157854" "02330" "KCNH2_001353" "g.150648928G>A" "" "" "" "KCNH2(NM_000238.4):c.1558-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929312" "0" "50" "7" "150652528" "150652528" "subst" "0" "02330" "KCNH2_001386" "g.150652528G>A" "" "" "" "KCNH2(NM_172057.3):c.64C>T (p.R22W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948878" "0" "50" "7" "150642476" "150642476" "subst" "5.44965E-5" "02325" "KCNH2_000956" "g.150642476G>A" "" "" "" "KCNH2(NM_000238.4):c.3457C>T (p.H1153Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948879" "0" "50" "7" "150643979" "150643979" "subst" "0" "02330" "KCNH2_001337" "g.150643979C>T" "" "" "" "KCNH2(NM_000238.4):c.3316G>A (p.D1106N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948880" "0" "30" "7" "150644901" "150644901" "subst" "0" "02327" "KCNH2_001365" "g.150644901G>C" "" "" "" "KCNH2(NM_000238.4):c.2758C>G (p.R920G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948881" "0" "50" "7" "150647463" "150647463" "subst" "0" "02330" "KCNH2_001387" "g.150647463G>A" "" "" "" "KCNH2(NM_000238.4):c.2191C>T (p.H731Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948882" "0" "90" "7" "150648766" "150648766" "subst" "0" "02330" "KCNH2_000673" "g.150648766C>T" "" "" "" "KCNH2(NM_000238.4):c.1715G>A (p.G572D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948883" "0" "10" "7" "150649738" "150649738" "subst" "0.00269632" "02326" "KCNH2_001190" "g.150649738C>T" "" "" "" "KCNH2(NM_000238.3):c.1332G>A (p.E444=), KCNH2(NM_000238.4):c.1332G>A (p.E444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948884" "0" "90" "7" "150649934" "150649934" "del" "0" "02330" "KCNH2_001388" "g.150649934del" "" "" "" "KCNH2(NM_000238.4):c.1138delC (p.L380Wfs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948885" "0" "50" "7" "150654413" "150654413" "subst" "0" "02330" "KCNH2_001389" "g.150654413T>C" "" "" "" "KCNH2(NM_000238.4):c.1094A>G (p.E365G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000959823" "0" "50" "7" "150656997" "150656997" "subst" "0" "03779" "KCNH2_001390" "g.150656997C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs911283150" "0" "" "" "" "" "VUS" "" "0000960201" "11" "90" "7" "150655537" "150655537" "subst" "0.000327217" "00006" "KCNH2_000132" "g.150655537G>A" "" "{PMID:Shepherdson 2024:38325380}, {DOI:Shepherdson 2024:10.1016/j.ajhg.2024.01.007}" "" "" "variant linked to rolonged QT interval" "Germline" "yes" "" "0" "" "" "g.150958449G>A" "" "pathogenic" "" "0000964488" "0" "50" "7" "150642590" "150642590" "subst" "0" "02325" "KCNH2_001391" "g.150642590T>C" "" "" "" "KCNH2(NM_000238.4):c.3343A>G (p.M1115V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964490" "0" "50" "7" "150644527" "150644527" "subst" "0" "02330" "KCNH2_001393" "g.150644527C>T" "" "" "" "KCNH2(NM_000238.4):c.3041G>A (p.R1014Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964493" "0" "10" "7" "150649750" "150649750" "subst" "0.00032891" "02326" "KCNH2_001286" "g.150649750C>A" "" "" "" "KCNH2(NM_000238.3):c.1320G>T (p.P440=), KCNH2(NM_000238.4):c.1320G>T (p.P440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000972069" "0" "70" "7" "150656803" "150656803" "subst" "0" "03779" "KCNH2_001396" "g.150656803A>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000972070" "0" "50" "7" "150655572" "150655572" "subst" "0" "03779" "KCNH2_001304" "g.150655572C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs199472866" "0" "" "" "" "" "VUS" "" "0000977572" "0" "30" "7" "150644711" "150644711" "subst" "0.000128655" "01804" "KCNH2_000981" "g.150644711G>A" "" "" "" "KCNH2(NM_000238.3):c.2948C>T (p.T983I), KCNH2(NM_000238.4):c.2948C>T (p.(Thr983Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985219" "0" "90" "7" "150645568" "150645568" "subst" "0" "03779" "KCNH2_001397" "g.150645568T>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000989700" "0" "90" "7" "143873921" "155888203" "del" "0" "02515" "FASTK_000004" "g.(?_143873921)_(155888203_?)del" "" "Fusco 2042, submitted" "" "arr[GRCh37] 7q35q36.3(143873921_155888203)x1" "variant definitively linked to disease" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000989701" "0" "50" "7" "150642586" "150642586" "subst" "0" "02515" "KCNH2_001398" "g.150642586G>A" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs199473032" "0" "" "" "g.150945498G>A" "" "VUS" "" "0000989702" "0" "70" "7" "150649511" "150649511" "subst" "0" "02515" "KCNH2_001399" "g.150649511A>G" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs1584855956" "0" "" "" "g.150952423A>G" "695023" "likely pathogenic" "" "0000996278" "0" "30" "7" "150642615" "150642616" "del" "0" "01804" "KCNH2_001160" "g.150642615_150642616del" "" "" "" "KCNH2(NM_000238.3):c.3331-9_3331-8delGT (p.?), KCNH2(NM_000238.4):c.3331-9_3331-8delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996279" "0" "90" "7" "150644699" "150644700" "del" "4.14852E-6" "02330" "KCNH2_000711" "g.150644699_150644700del" "" "" "" "KCNH2(NM_000238.4):c.2959_2960delCT (p.L987Vfs*131)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996280" "0" "30" "7" "150644718" "150644718" "subst" "0.000266303" "01804" "KCNH2_001164" "g.150644718T>C" "" "" "" "KCNH2(NM_000238.3):c.2941A>G (p.(Ser981Gly), p.S981G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996281" "0" "50" "7" "150645577" "150645577" "subst" "2.85987E-5" "01804" "KCNH2_001343" "g.150645577G>A" "" "" "" "KCNH2(NM_000238.3):c.2647C>T (p.(Arg883Trp), p.R883W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996282" "0" "30" "7" "150646143" "150646143" "subst" "2.04002E-5" "02330" "KCNH2_001230" "g.150646143G>A" "" "" "" "KCNH2(NM_000238.4):c.2399-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996283" "0" "50" "7" "150648551" "150648551" "subst" "1.62477E-5" "02325" "KCNH2_001401" "g.150648551C>T" "" "" "" "KCNH2(NM_000238.4):c.1930G>A (p.V644I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996284" "0" "70" "7" "150648559" "150648559" "subst" "0" "02329" "KCNH2_001402" "g.150648559G>C" "" "" "" "KCNH2(NM_000238.4):c.1922C>G (p.S641C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996286" "0" "90" "7" "150648767" "150648767" "subst" "0" "02329" "KCNH2_000841" "g.150648767C>A" "" "" "" "KCNH2(NM_000238.4):c.1714G>T (p.G572C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996287" "0" "90" "7" "150649569" "150649569" "subst" "0" "02329" "KCNH2_001075" "g.150649569C>G" "" "" "" "KCNH2(NM_000238.4):c.1501G>C (p.D501H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996288" "0" "50" "7" "150649608" "150649608" "subst" "2.43643E-5" "01804" "KCNH2_001404" "g.150649608G>A" "" "" "" "KCNH2(NM_000238.3):c.1462C>T (p.(Arg488Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996289" "0" "90" "7" "150649806" "150649806" "subst" "0" "02329" "KCNH2_001405" "g.150649806C>A" "" "" "" "KCNH2(NM_000238.4):c.1264G>T (p.A422S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996290" "0" "50" "7" "150655195" "150655195" "subst" "0" "01804" "KCNH2_001406" "g.150655195C>T" "" "" "" "KCNH2(NM_000238.3):c.868G>A (p.(Ala290Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996291" "0" "90" "7" "150655198" "150655198" "subst" "0" "02326" "KCNH2_001407" "g.150655198C>A" "" "" "" "KCNH2(NM_000238.3):c.865G>T (p.E289*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996292" "0" "50" "7" "150655425" "150655425" "subst" "0.000108928" "02330" "KCNH2_001408" "g.150655425T>C" "" "" "" "KCNH2(NM_000238.4):c.638A>G (p.D213G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996293" "0" "50" "7" "150655593" "150655593" "subst" "0" "02330" "KCNH2_001409" "g.150655593G>A" "" "" "" "KCNH2(NM_000238.4):c.473-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007484" "0" "70" "7" "150652558" "150652559" "del" "0" "00006" "KCNH2_001412" "g.150652558_150652559del" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1064794494" "0" "" "" "g.150955470_150955471del" "" "VUS" "" "0001007485" "0" "70" "7" "150648878" "150648878" "subst" "0" "00006" "KCNH2_001411" "g.150648878C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs375872367" "0" "" "" "g.150951790C>T" "" "VUS" "" "0001007486" "0" "30" "7" "150652528" "150652528" "subst" "0" "00006" "KCNH2_001386" "g.150652528G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1584860856" "0" "" "" "g.150955440G>A" "" "likely benign" "" "0001007533" "0" "70" "7" "150642464" "150642464" "subst" "0" "00006" "KCNH2_001410" "g.150642464G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1449906095" "0" "" "" "g.150945376G>A" "" "VUS" "" "0001007546" "0" "70" "7" "150654546" "150654546" "subst" "8.14173E-6" "00006" "KCNH2_001413" "g.150654546C>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs886062089" "0" "" "" "g.150957458C>A" "" "VUS" "" "0001014320" "0" "90" "7" "150647399" "150647399" "subst" "0" "02330" "KCNH2_000810" "g.150647399C>G" "" "" "" "KCNH2(NM_000238.4):c.2255G>C (p.R752P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014321" "0" "30" "7" "150648846" "150648846" "subst" "0.000159323" "02330" "KCNH2_001327" "g.150648846G>A" "" "" "" "KCNH2(NM_000238.4):c.1635C>T (p.Y545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014322" "0" "50" "7" "150649644" "150649644" "subst" "8.1211E-6" "02325" "KCNH2_001414" "g.150649644C>T" "" "" "" "KCNH2(NM_000238.4):c.1426G>A (p.V476I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014323" "0" "50" "7" "150655407" "150655407" "subst" "0" "02330" "KCNH2_001415" "g.150655407T>A" "" "" "" "KCNH2(NM_000238.4):c.656A>T (p.D219V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025357" "0" "50" "7" "150642590" "150642590" "subst" "0" "02330" "KCNH2_001391" "g.150642590T>C" "" "" "" "KCNH2(NM_000238.4):c.3343A>G (p.M1115V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036192" "0" "90" "7" "150648767" "150648767" "subst" "0" "02329" "KCNH2_000674" "g.150648767C>T" "" "" "" "KCNH2(NM_000238.4):c.1714G>A (p.G572S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046110" "0" "50" "7" "150655174" "150655174" "subst" "0" "02326" "KCNH2_000727" "g.150655174G>A" "" "" "" "KCNH2(NM_000238.3):c.889C>T (p.P297S), KCNH2(NM_000238.4):c.889C>T (p.P297S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047040" "0" "50" "7" "150654497" "150654497" "subst" "1.21988E-5" "03779" "KCNH2_001416" "g.150654497G>C" "" "" "" "" "" "Unknown" "" "rs41311018" "0" "" "" "" "" "VUS" "" "0001047220" "0" "50" "7" "150671877" "150671877" "subst" "0" "03779" "KCNH2_001417" "g.150671877G>A" "" "" "" "" "" "Unknown" "" "rs769084156" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes KCNH2 ## Count = 1494 "{{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}}" "0000023130" "00010358" "55" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Ala172Val)" "4" "0000023131" "00010358" "15" "712" "0" "712" "0" "c.712G>C" "r.(?)" "p.(Gly238Arg)" "4" "0000023132" "00010358" "95" "1027" "0" "1027" "0" "c.1027delC" "r.(?)" "p.(Leu343Serfs*17)" "5" "0000023133" "00010358" "55" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Arg356His)" "5" "0000023134" "00010358" "95" "2115" "0" "2115" "0" "c.2115delG" "r.(?)" "p.(Trp705Cysfs*9)" "8" "0000023135" "00010358" "95" "2419" "0" "2419" "0" "c.2419G>T" "r.(?)" "p.(Glu807*)" "10" "0000023136" "00010358" "55" "2565" "0" "2565" "0" "c.2565C>G" "r.(?)" "p.(Ser855Arg)" "10" "0000023137" "00010358" "55" "2639" "0" "2639" "0" "c.2639G>T" "r.(?)" "p.(Gly880Val)" "11" "0000023138" "00010358" "55" "2669" "0" "2669" "0" "c.2669C>G" "r.(?)" "p.(Ser890Cys)" "11" "0000036849" "00025348" "00" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Ala221Val)" "" "0000036849" "00010358" "75" "1682" "0" "1682" "0" "c.1682C>T" "r.(?)" "p.(Ala561Val)" "7" "0000036850" "00025348" "00" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Thr273Met)" "" "0000036850" "00010358" "75" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "7" "0000078319" "00010358" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.0?" "1" "0000078320" "00010358" "50" "38" "0" "38" "0" "c.38C>A" "r.(?)" "p.(Thr13Asn)" "1" "0000078321" "00010358" "50" "45" "0" "56" "0" "c.45_56del" "r.(?)" "p.(Asp16_Ile19del)" "1" "0000078322" "00010358" "50" "56" "0" "56" "0" "c.56T>C" "r.(?)" "p.(Ile19Thr)" "1" "0000078323" "00010358" "50" "59" "0" "59" "0" "c.59G>T" "r.(?)" "p.(Arg20Leu)" "1" "0000078324" "00010358" "90" "81" "0" "81" "0" "c.81del" "r.(?)" "p.(Lys28Serfs*32)" "2" "0000078325" "00010358" "50" "125" "0" "125" "0" "c.125T>G" "r.(?)" "p.(Ile42Ser)" "2" "0000078326" "00010358" "50" "127" "0" "127" "0" "c.127T>G" "r.(?)" "p.(Tyr43Asp)" "2" "0000078327" "00010358" "50" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Cys44Phe)" "2" "0000078328" "00010358" "50" "130" "0" "130" "0" "c.130T>G" "r.(?)" "p.(Cys44Gly)" "2" "0000078329" "00010358" "50" "135" "0" "135" "0" "c.135C>A" "r.(?)" "p.(Asn45Lys)" "2" "0000078330" "00010358" "50" "145" "0" "145" "0" "c.145T>C" "r.(?)" "p.(Cys49Arg)" "2" "0000078331" "00010358" "90" "148" "0" "148" "0" "c.148del" "r.(?)" "p.(Glu50Serfs*10)" "2" "0000078332" "00010358" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Asp)" "2" "0000078333" "00010358" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Asp)" "2" "0000078334" "00010358" "50" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Gly53Ser)" "2" "0000078335" "00010358" "50" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Gly53Ser)" "2" "0000078336" "00010358" "50" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Arg56Gln)" "2" "0000078337" "00010358" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Glu58Lys)" "2" "0000078338" "00010358" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Glu58Lys)" "2" "0000078339" "00010358" "50" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Cys64Tyr)" "2" "0000078340" "00010358" "50" "202" "0" "202" "0" "c.202T>G" "r.(?)" "p.(Phe68Val)" "2" "0000078341" "00010358" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Gly71Arg)" "2" "0000078342" "00010358" "50" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Pro72Leu)" "2" "0000078343" "00010358" "50" "215" "0" "215" "0" "c.215C>A" "r.(?)" "p.(Pro72Gln)" "2" "0000078344" "00010358" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Gln75*)" "2" "0000078345" "00010358" "50" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" "2" "0000078346" "00010358" "50" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" "2" "0000078347" "00010358" "70" "475" "0" "476" "0" "c.475_476insAGGC" "r.(?)" "p.(Arg159Glnfs*174)" "2" "0000078348" "00010358" "50" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(Lys93Arg)" "2" "0000078349" "00010358" "50" "296" "0" "296" "0" "c.296A>C" "r.(?)" "p.(Tyr99Ser)" "2" "0000078350" "00010358" "50" "298" "0" "298" "0" "c.298C>G" "r.(?)" "p.(Arg100Gly)" "2" "0000078351" "00010358" "50" "316" "0" "316" "0" "c.316T>G" "r.(?)" "p.(Phe106Val)" "3" "0000078352" "00010358" "50" "332" "0" "332" "0" "c.332A>T" "r.(?)" "p.(Asp111Val)" "3" "0000078353" "00010358" "50" "340" "0" "340" "0" "c.340C>T" "r.(?)" "p.(Pro114Ser)" "3" "0000078354" "00010358" "50" "340" "0" "340" "0" "c.340C>T" "r.(?)" "p.(Pro114Ser)" "3" "0000078355" "00010358" "50" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Val115Met)" "3" "0000078356" "00010358" "50" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Met124Thr)" "3" "0000078357" "00010358" "90" "453" "0" "453" "0" "c.453dup" "r.(?)" "p.(Thr152Hisfs*180)" "3" "0000078358" "00010358" "90" "453" "0" "453" "0" "c.453del" "r.(?)" "p.(Thr152Profs*14)" "3" "0000078359" "00010358" "90" "453" "0" "453" "0" "c.453dup" "r.(?)" "p.(Thr152Hisfs*180)" "3" "0000078360" "00010358" "90" "468" "0" "469" "0" "c.468_469insGCCC" "r.(?)" "p.(Pro157Alafs*176)" "3" "0000078361" "00010358" "90" "480" "0" "480" "0" "c.480dup" "r.(?)" "p.(Lys161Glnfs*171)" "4" "0000078362" "00010358" "90" "486" "0" "487" "0" "c.486_487del" "r.(?)" "p.(Phe163Profs*168)" "4" "0000078363" "00010358" "90" "525" "0" "558" "0" "c.525_558del" "r.(?)" "p.(Arg176Alafs*14)" "4" "0000078364" "00010358" "90" "529" "0" "529" "0" "c.529G>T" "r.(?)" "p.(Glu177*)" "4" "0000078365" "00010358" "50" "560" "0" "568" "0" "c.560_568del" "r.(?)" "p.(Gly187_Gly189del)" "4" "0000078366" "00010358" "50" "567" "0" "575" "0" "c.567_575del" "r.(?)" "p.(Pro191_Ala193del)" "4" "0000078367" "00010358" "50" "589" "0" "589" "0" "c.589G>T" "r.(?)" "p.(Asp197Tyr)" "4" "0000078368" "00010358" "50" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Pro241Leu)" "4" "0000078369" "00010358" "90" "724" "0" "724" "0" "c.724del" "r.(?)" "p.(Arg242Alafs*118)" "4" "0000078370" "00010358" "90" "730" "0" "742" "0" "c.730_742del" "r.(?)" "p.(Ala244Serfs*112)" "4" "0000078371" "00010358" "50" "754" "0" "756" "0" "c.754_756del" "r.(?)" "p.(Arg252del)" "4" "0000078372" "00010358" "90" "760" "0" "775" "0" "c.760_775del" "r.(?)" "p.(His254Thrfs*101)" "4" "0000078373" "00010358" "90" "817" "0" "817" "0" "c.817del" "r.(?)" "p.(Arg273Glufs*87)" "4" "0000078374" "00010358" "50" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Pro297Ser)" "4" "0000078375" "00010358" "90" "888" "0" "888" "0" "c.888delinsAA" "r.(?)" "p.(Pro297Thrfs*35)" "4" "0000078376" "00010358" "50" "922" "0" "922" "0" "c.922A>G" "r.(?)" "p.(Met308Val)" "5" "0000078377" "00010358" "90" "933" "0" "952" "0" "c.933_952del" "r.(?)" "p.(Arg312Hisfs*13)" "5" "0000078378" "00010358" "50" "1001" "0" "1001" "0" "c.1001C>T" "r.(?)" "p.(Pro334Leu)" "5" "0000078379" "00010358" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Gln335*)" "5" "0000078380" "00010358" "90" "1008" "0" "1009" "0" "c.1008_1009insT" "r.(?)" "p.(Thr337Tyrfs*19)" "5" "0000078381" "00010358" "90" "1008" "0" "1009" "0" "c.1008_1009insT" "r.(?)" "p.(Thr337Tyrfs*19)" "5" "0000078382" "00010358" "70" "1091" "0" "1102" "0" "c.1091_1102delinsTGTCTTGAGTCTATGTCATTGTCATAGCTTGAGACATTGTCATAGCACCTAAG" "r.(?)" "p.(Lys364Metfs*3)" "5" "0000078383" "00010358" "70" "1091" "0" "1102" "0" "c.1091_1102delinsTGTCTTGAGTCTATGTCATTGTCATAGCTTGAGACATTGTCATAGCACCTAAG" "r.(?)" "p.(Lys364Metfs*3)" "5" "0000078384" "00010358" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366*)" "5" "0000078385" "00010358" "70" "1129" "-1" "1129" "-1" "c.1129-1G>A" "r.spl" "p.?" "5i" "0000078386" "00010358" "90" "1128" "1892" "1678" "0" "c.1128+1892_1678dup" "r.spl?" "p.?" "5i_7" "0000078387" "00010358" "50" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Gln391*)" "6" "0000078388" "00010358" "50" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.(Trp398*)" "6" "0000078389" "00010358" "50" "1205" "0" "1205" "0" "c.1205A>G" "r.(?)" "p.(His402Arg)" "6" "0000078390" "00010358" "50" "1277" "0" "1277" "0" "c.1277C>A" "r.(?)" "p.(Pro426His)" "6" "0000078391" "00010358" "50" "1280" "0" "1280" "0" "c.1280A>G" "r.(?)" "p.(Tyr427Cys)" "6" "0000078392" "00010358" "50" "1283" "0" "1283" "0" "c.1283C>T" "r.(?)" "p.(Ser428Leu)" "6" "0000078393" "00010358" "50" "1384" "0" "1401" "0" "c.1384_1401dup" "r.(?)" "p.(Met462_Ile467dup)" "6" "0000078394" "00010358" "50" "1389" "0" "1389" "0" "c.1389C>A" "r.(?)" "p.(Phe463Leu)" "6" "0000078395" "00010358" "50" "1389" "0" "1389" "0" "c.1389C>A" "r.(?)" "p.(Phe463Leu)" "6" "0000078396" "00010358" "90" "1360" "0" "1360" "0" "c.1360del" "r.(?)" "p.(Val454Trpfs*67)" "6" "0000078397" "00010358" "90" "1402" "0" "1402" "0" "c.1402dup" "r.(?)" "p.(Leu468Profs*51)" "6" "0000078398" "00010358" "90" "1436" "0" "1454" "0" "c.1436_1454dup" "r.(?)" "p.(His485Glnfs*40)" "6" "0000078399" "00010358" "50" "1457" "0" "1457" "0" "c.1457C>G" "r.(?)" "p.(Pro486Arg)" "6" "0000078400" "00010358" "50" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(His492Tyr)" "6" "0000078401" "00010358" "50" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(His492Tyr)" "6" "0000078402" "00010358" "50" "1491" "0" "1491" "0" "c.1491G>A" "r.(?)" "p.(Trp497*)" "6" "0000078403" "00010358" "50" "1501" "0" "1501" "0" "c.1501G>A" "r.(?)" "p.(Asp501Asn)" "6" "0000078404" "00010358" "50" "1501" "0" "1501" "0" "c.1501G>A" "r.(?)" "p.(Asp501Asn)" "6" "0000078405" "00010358" "70" "1557" "1" "1557" "1" "c.1557+1G>A" "r.spl" "p.?" "6i" "0000078406" "00010358" "50" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Cys)" "7" "0000078407" "00010358" "50" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Cys)" "7" "0000078408" "00010358" "50" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Cys)" "7" "0000078409" "00010358" "50" "1657" "0" "1657" "0" "c.1657C>G" "r.(?)" "p.(Leu553Val)" "7" "0000078410" "00010358" "90" "1671" "0" "1671" "0" "c.1671del" "r.(?)" "p.(Phe557Leufs*8)" "7" "0000078411" "00010358" "50" "1672" "0" "1672" "0" "c.1672G>C" "r.(?)" "p.(Ala558Pro)" "7" "0000078412" "00010358" "50" "1681" "0" "1681" "0" "c.1681G>A" "r.(?)" "p.(Ala561Thr)" "7" "0000078413" "00010358" "50" "1682" "0" "1682" "0" "c.1682C>T" "r.(?)" "p.(Ala561Val)" "7" "0000078414" "00010358" "50" "1685" "0" "1685" "0" "c.1685A>G" "r.(?)" "p.(His562Arg)" "7" "0000078415" "00010358" "50" "1685" "0" "1685" "0" "c.1685A>G" "r.(?)" "p.(His562Arg)" "7" "0000078416" "00010358" "50" "1685" "0" "1685" "0" "c.1685A>G" "r.(?)" "p.(His562Arg)" "7" "0000078417" "00010358" "90" "1689" "0" "1689" "0" "c.1689G>A" "r.(?)" "p.(Trp563*)" "7" "0000078418" "00010358" "50" "1687" "0" "1687" "0" "c.1687T>G" "r.(?)" "p.(Trp563Gly)" "7" "0000078419" "00010358" "50" "1689" "0" "1689" "0" "c.1689G>T" "r.(?)" "p.(Trp563Cys)" "7" "0000078420" "00010358" "50" "1693" "0" "1693" "0" "c.1693G>T" "r.(?)" "p.(Ala565Ser)" "7" "0000078421" "00010358" "50" "1696" "0" "1696" "0" "c.1696T>A" "r.(?)" "p.(Cys566Ser)" "7" "0000078422" "00010358" "90" "1704" "0" "1704" "0" "c.1704G>A" "r.(?)" "p.(Trp568*)" "7" "0000078423" "00010358" "50" "1706" "0" "1706" "0" "c.1706A>G" "r.(?)" "p.(Tyr569Cys)" "7" "0000078424" "00010358" "50" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Gly572Ser)" "7" "0000078425" "00010358" "50" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Gly572Ser)" "7" "0000078426" "00010358" "50" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Gly572Ser)" "7" "0000078427" "00010358" "50" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Gly572Ser)" "7" "0000078428" "00010358" "50" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Gly572Asp)" "7" "0000078429" "00010358" "50" "1714" "0" "1714" "0" "c.1714G>T" "r.(?)" "p.(Gly572Cys)" "7" "0000078430" "00010358" "50" "1720" "0" "1720" "0" "c.1720A>G" "r.(?)" "p.(Met574Val)" "7" "0000078431" "00010358" "90" "1723" "0" "1723" "0" "c.1723G>T" "r.(?)" "p.(Glu575*)" "7" "0000078432" "00010358" "50" "1732" "0" "1746" "0" "c.1732_1746del" "r.(?)" "p.(His578_Arg582del)" "7" "0000078433" "00010358" "50" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Met579Thr)" "7" "0000078434" "00010358" "50" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Met579Thr)" "7" "0000078435" "00010358" "50" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Cys)" "7" "0000078436" "00010358" "50" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Cys)" "7" "0000078437" "00010358" "50" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Cys)" "7" "0000078438" "00010358" "50" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Cys)" "7" "0000078439" "00010358" "50" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Cys)" "7" "0000078440" "00010358" "50" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Cys)" "7" "0000078441" "00010358" "50" "1745" "0" "1745" "0" "c.1745G>T" "r.(?)" "p.(Arg582Leu)" "7" "0000078442" "00010358" "50" "1745" "0" "1745" "0" "c.1745G>T" "r.(?)" "p.(Arg582Leu)" "7" "0000078443" "00010358" "50" "1750" "0" "1750" "0" "c.1750G>A" "r.(?)" "p.(Gly584Ser)" "7" "0000078444" "00010358" "50" "1751" "0" "1751" "0" "c.1751G>T" "r.(?)" "p.(Gly584Val)" "7" "0000078445" "00010358" "50" "1750" "0" "1750" "0" "c.1750G>T" "r.(?)" "p.(Gly584Cys)" "7" "0000078446" "00010358" "50" "1766" "0" "1766" "0" "c.1766T>C" "r.(?)" "p.(Leu589Pro)" "7" "0000078447" "00010358" "50" "1769" "0" "1769" "0" "c.1769G>T" "r.(?)" "p.(Gly590Val)" "7" "0000078448" "00010358" "90" "1775" "0" "1775" "0" "c.1775del" "r.(?)" "p.(Gln592Argfs*2)" "7" "0000078449" "00010358" "50" "1778" "0" "1778" "0" "c.1778T>C" "r.(?)" "p.(Ile593Thr)" "7" "0000078450" "00010358" "50" "1778" "0" "1778" "0" "c.1778T>G" "r.(?)" "p.(Ile593Arg)" "7" "0000078451" "00010358" "50" "1783" "0" "1783" "0" "c.1783A>G" "r.(?)" "p.(Lys595Glu)" "7" "0000078452" "00010358" "50" "1783" "0" "1783" "0" "c.1783A>G" "r.(?)" "p.(Lys595Glu)" "7" "0000078453" "00010358" "50" "1785" "0" "1785" "0" "c.1785A>T" "r.(?)" "p.(Lys595Asn)" "7" "0000078454" "00010358" "50" "1790" "0" "1790" "0" "c.1790A>G" "r.(?)" "p.(Tyr597Cys)" "7" "0000078455" "00010358" "50" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "7" "0000078456" "00010358" "50" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "7" "0000078457" "00010358" "50" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "7" "0000078458" "00010358" "50" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "7" "0000078459" "00010358" "50" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Gly603Asp)" "7" "0000078460" "00010358" "50" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Gly604Ser)" "7" "0000078461" "00010358" "50" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Gly604Ser)" "7" "0000078462" "00010358" "50" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Gly604Ser)" "7" "0000078463" "00010358" "50" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Gly604Ser)" "7" "0000078464" "00010358" "50" "1825" "0" "1825" "0" "c.1825G>A" "r.(?)" "p.(Asp609Asn)" "7" "0000078465" "00010358" "90" "1833" "0" "1833" "0" "c.1833T>G" "r.(?)" "p.(Tyr611*)" "7" "0000078466" "00010358" "50" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "7" "0000078467" "00010358" "50" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "7" "0000078468" "00010358" "50" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "7" "0000078469" "00010358" "50" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "7" "0000078470" "00010358" "50" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "7" "0000078471" "00010358" "50" "1838" "0" "1838" "0" "c.1838C>A" "r.(?)" "p.(Thr613Lys)" "7" "0000078472" "00010358" "50" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "7" "0000078473" "00010358" "50" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "7" "0000078474" "00010358" "50" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "7" "0000078475" "00010358" "50" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "7" "0000078476" "00010358" "50" "1843" "0" "1843" "0" "c.1843C>T" "r.(?)" "p.(Leu615Phe)" "7" "0000078477" "00010358" "50" "1853" "0" "1853" "0" "c.1853C>G" "r.(?)" "p.(Thr618Ser)" "7" "0000078478" "00010358" "50" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Ser621Asn)" "7" "0000078479" "00010358" "50" "1861" "0" "1861" "0" "c.1861A>C" "r.(?)" "p.(Ser621Arg)" "7" "0000078480" "00010358" "50" "1864" "0" "1864" "0" "c.1864C>T" "r.(?)" "p.(Leu622Phe)" "7" "0000078481" "00010358" "50" "1867" "0" "1867" "0" "c.1867A>G" "r.(?)" "p.(Thr623Ala)" "7" "0000078482" "00010358" "50" "1868" "0" "1868" "0" "c.1868C>T" "r.(?)" "p.(Thr623Ile)" "7" "0000078483" "00010358" "50" "1874" "0" "1874" "0" "c.1874T>A" "r.(?)" "p.(Val625Glu)" "7" "0000078484" "00010358" "70" "629" "0" "647" "0" "c.629_647dup" "r.(?)" "p.(Ala217Glyfs*121)" "4" "0000078485" "00010358" "50" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Gly628Ser)" "7" "0000078486" "00010358" "50" "1886" "0" "1886" "0" "c.1886A>G" "r.(?)" "p.(Asn629Ser)" "7" "0000078487" "00010358" "50" "1898" "0" "1898" "0" "c.1898A>G" "r.(?)" "p.(Asn633Ser)" "7" "0000078488" "00010358" "50" "1898" "0" "1898" "0" "c.1898A>G" "r.(?)" "p.(Asn633Ser)" "7" "0000078489" "00010358" "50" "1898" "0" "1898" "0" "c.1898A>G" "r.(?)" "p.(Asn633Ser)" "7" "0000078490" "00010358" "50" "1900" "0" "1900" "0" "c.1900A>G" "r.(?)" "p.(Thr634Ala)" "7" "0000078491" "00010358" "50" "1912" "0" "1912" "0" "c.1912A>G" "r.(?)" "p.(Lys638Glu)" "7" "0000078492" "00010358" "50" "1912" "0" "1912" "0" "c.1912A>C" "r.(?)" "p.(Lys638Gln)" "7" "0000078493" "00010358" "50" "1913" "0" "1915" "0" "c.1913_1915del" "r.(?)" "p.(Lys638del)" "7" "0000078494" "00010358" "50" "1919" "0" "1921" "0" "c.1919_1921del" "r.(?)" "p.(Phe640del)" "7" "0000078495" "00010358" "50" "1922" "0" "1922" "0" "c.1922C>T" "r.(?)" "p.(Ser641Phe)" "7" "0000078496" "00010358" "50" "1930" "0" "1930" "0" "c.1930G>T" "r.(?)" "p.(Val644Phe)" "7" "0000078497" "00010358" "50" "1933" "0" "1933" "0" "c.1933A>C" "r.(?)" "p.(Met645Leu)" "7" "0000078498" "00010358" "50" "1945" "0" "1945" "0" "c.1945T>C" "r.(?)" "p.(Ser649Pro)" "7" "0000078499" "00010358" "90" "1951" "0" "1952" "0" "c.1951_1952del" "r.(?)" "p.(Met651Valfs*3)" "8" "0000078500" "00010358" "90" "1990" "0" "1990" "0" "c.1990C>T" "r.(?)" "p.(Gln664*)" "8" "0000078501" "00010358" "90" "2003" "0" "2003" "0" "c.2003C>A" "r.(?)" "p.(Ser668*)" "8" "0000078502" "00010358" "90" "2019" "0" "2019" "0" "c.2019C>G" "r.(?)" "p.(Tyr673*)" "8" "0000078503" "00010358" "90" "2028" "0" "2029" "0" "c.2028_2029del" "r.(?)" "p.(Gln676Hisfs*46)" "8" "0000078504" "00010358" "90" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Gln676*)" "8" "0000078505" "00010358" "90" "2062" "0" "2062" "0" "c.2062C>T" "r.(?)" "p.(Gln688*)" "8" "0000078506" "00010358" "90" "2092" "0" "2092" "0" "c.2092G>T" "r.(?)" "p.(Glu698*)" "8" "0000078507" "00010358" "90" "2092" "0" "2092" "0" "c.2092G>T" "r.(?)" "p.(Glu698*)" "8" "0000078508" "00010358" "90" "2092" "0" "2092" "0" "c.2092G>T" "r.(?)" "p.(Glu698*)" "8" "0000078509" "00010358" "50" "2134" "0" "2134" "0" "c.2134G>A" "r.(?)" "p.(Asp712Asn)" "8" "0000078510" "00010358" "50" "2145" "0" "2145" "0" "c.2145G>C" "r.spl?" "p.(Ala715=)" "8" "0000078511" "00010358" "70" "2146" "-2" "2146" "-2" "c.2146-2A>G" "r.spl" "p.?" "8i" "0000078512" "00010358" "70" "2146" "-2" "2146" "-2" "c.2146-2A>G" "r.spl" "p.?" "8i" "0000078513" "00010358" "50" "2162" "0" "2162" "0" "c.2162C>T" "r.(?)" "p.(Pro721Leu)" "9" "0000078514" "00010358" "50" "2162" "0" "2162" "0" "c.2162C>G" "r.(?)" "p.(Pro721Arg)" "9" "0000078515" "00010358" "90" "2169" "0" "2170" "0" "c.2169_2170dup" "r.(?)" "p.(Leu724Profs*10)" "9" "0000078516" "00010358" "50" "2192" "0" "2192" "0" "c.2192A>C" "r.(?)" "p.(His731Pro)" "9" "0000078517" "00010358" "50" "2195" "0" "2195" "0" "c.2195T>C" "r.(?)" "p.(Leu732Pro)" "9" "0000078518" "00010358" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Gln738*)" "9" "0000078519" "00010358" "50" "2231" "0" "2231" "0" "c.2231G>C" "r.(?)" "p.(Arg744Pro)" "9" "0000078520" "00010358" "50" "2255" "0" "2255" "0" "c.2255G>C" "r.(?)" "p.(Arg752Pro)" "9" "0000078521" "00010358" "50" "2254" "0" "2254" "0" "c.2254C>T" "r.(?)" "p.(Arg752Trp)" "9" "0000078522" "00010358" "50" "2347" "0" "2347" "0" "c.2347T>C" "r.(?)" "p.(Ser783Pro)" "9" "0000078523" "00010358" "90" "2354" "0" "2354" "0" "c.2354del" "r.(?)" "p.(Gly785Alafs*25)" "9" "0000078524" "00010358" "50" "2353" "0" "2353" "0" "c.2353G>A" "r.(?)" "p.(Gly785Ser)" "9" "0000078525" "00010358" "70" "2399" "-2" "2399" "-2" "c.2399-2A>G" "r.spl" "p.?" "9i" "0000078526" "00010358" "70" "2401" "1" "2401" "1" "c.2401+1G>A" "r.spl" "p.?" "9i" "0000078527" "00010358" "50" "2398" "0" "2398" "0" "c.2398G>C" "r.(?)" "p.(Gly800Arg)" "9" "0000078528" "00010358" "90" "2436" "0" "2436" "0" "c.2436dup" "r.(?)" "p.(Ala813Cysfs*17)" "10" "0000078529" "00010358" "50" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Ser818Leu)" "10" "0000078530" "00010358" "50" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Ser818Leu)" "10" "0000078531" "00010358" "50" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Ser818Leu)" "10" "0000078532" "00010358" "50" "2468" "0" "2468" "0" "c.2468G>A" "r.(?)" "p.(Arg823Gln)" "10" "0000078533" "00010358" "50" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Arg823Trp)" "10" "0000078534" "00010358" "50" "2464" "0" "2464" "0" "c.2464G>A" "r.(?)" "p.(Val822Met)" "10" "0000078535" "00010358" "50" "2492" "0" "2492" "0" "c.2492A>C" "r.(?)" "p.(His831Pro)" "10" "0000078536" "00010358" "50" "2509" "0" "2509" "0" "c.2509G>A" "r.(?)" "p.(Asp837Asn)" "10" "0000078537" "00010358" "50" "2509" "0" "2509" "0" "c.2509G>A" "r.(?)" "p.(Asp837Asn)" "10" "0000078538" "00010358" "50" "2509" "0" "2509" "0" "c.2509G>A" "r.(?)" "p.(Asp837Asn)" "10" "0000078539" "00010358" "50" "2532" "0" "2535" "0" "c.2532_2535delinsTTAA" "r.(?)" "p.(Met844_Ser1159delinsIle)" "10" "0000078540" "00010358" "90" "2559" "0" "2559" "0" "c.2559del" "r.(?)" "p.(Trp853Cysfs*15)" "10" "0000078541" "00010358" "90" "2587" "0" "2587" "0" "c.2587C>T" "r.(?)" "p.(Arg863*)" "10" "0000078542" "00010358" "90" "2587" "0" "2587" "0" "c.2587C>T" "r.(?)" "p.(Arg863*)" "10" "0000078543" "00010358" "50" "2594" "0" "2594" "0" "c.2594C>T" "r.(?)" "p.(Thr865Ile)" "11" "0000078544" "00010358" "90" "2593" "0" "2599" "0" "c.2593_2599del" "r.(?)" "p.(Thr865*)" "11" "0000078545" "00010358" "90" "2006" "0" "2006" "0" "c.2006del" "r.(?)" "p.(Gly669Alafs*45)" "8" "0000078546" "00010358" "90" "2613" "0" "2669" "0" "c.2613_2669delinsACGCCTG" "r.(?)" "p.(Pro872Argfs*31)" "11" "0000078547" "00010358" "90" "2616" "0" "2616" "0" "c.2616del" "r.(?)" "p.(Gly873Alafs*5)" "11" "0000078548" "00010358" "90" "2616" "0" "2616" "0" "c.2616del" "r.(?)" "p.(Gly873Alafs*5)" "11" "0000078549" "00010358" "50" "2648" "0" "2648" "0" "c.2648G>A" "r.(?)" "p.(Arg883Gln)" "11" "0000078550" "00010358" "90" "2647" "0" "2659" "0" "c.2647_2659del" "r.(?)" "p.(Arg883Alafs*87)" "11" "0000078551" "00010358" "90" "2731" "0" "2732" "0" "c.2731_2732dup" "r.(?)" "p.(Arg912Alafs*63)" "12" "0000078552" "00010358" "90" "2734" "0" "2738" "0" "c.2734_2738dup" "r.(?)" "p.(Ala915Argfs*61)" "12" "0000078553" "00010358" "90" "2734" "0" "2738" "0" "c.2734_2738del" "r.(?)" "p.(Arg912Glyfs*6)" "12" "0000078554" "00010358" "90" "2734" "0" "2738" "0" "c.2734_2738del" "r.(?)" "p.(Arg912Glyfs*6)" "12" "0000078555" "00010358" "90" "2734" "0" "2738" "0" "c.2734_2738dup" "r.(?)" "p.(Ala915Argfs*61)" "12" "0000078556" "00010358" "90" "2774" "0" "2775" "0" "c.2774_2775delinsT" "r.(?)" "p.(Gly925Valfs*49)" "12" "0000078557" "00010358" "90" "2775" "0" "2775" "0" "c.2775del" "r.(?)" "p.(Pro926Argfs*48)" "12" "0000078558" "00010358" "90" "2775" "0" "2775" "0" "c.2775dup" "r.(?)" "p.(Pro926Alafs*14)" "12" "0000078559" "00010358" "90" "2775" "0" "2775" "0" "c.2775dup" "r.(?)" "p.(Pro926Alafs*14)" "12" "0000078560" "00010358" "90" "2780" "0" "2780" "0" "c.2780G>A" "r.(?)" "p.(Trp927*)" "12" "0000078561" "00010358" "90" "2780" "0" "2780" "0" "c.2780G>A" "r.(?)" "p.(Trp927*)" "12" "0000078562" "00010358" "50" "2843" "0" "2843" "0" "c.2843G>A" "r.(?)" "p.(Arg948His)" "12" "0000078563" "00010358" "90" "2892" "0" "2892" "0" "c.2892dup" "r.(?)" "p.(Gly965Argfs*154)" "12" "0000078564" "00010358" "90" "2918" "0" "2918" "0" "c.2918del" "r.(?)" "p.(Leu973Argfs*84)" "12" "0000078565" "00010358" "90" "2932" "0" "2932" "0" "c.2932G>T" "r.(?)" "p.(Glu978*)" "12" "0000078566" "00010358" "90" "2942" "0" "2942" "0" "c.2942del" "r.(?)" "p.(Ser981Thrfs*76)" "12" "0000078567" "00010358" "90" "2959" "0" "2960" "0" "c.2959_2960del" "r.(?)" "p.(Leu987Valfs*131)" "12" "0000078568" "00010358" "90" "2959" "0" "2960" "0" "c.2959_2960del" "r.(?)" "p.(Leu987Valfs*131)" "12" "0000078569" "00010358" "70" "2966" "-3" "2966" "-3" "c.2966-3C>G" "r.spl?" "p.?" "12i" "0000078570" "00010358" "70" "2966" "-3" "2966" "-3" "c.2966-3C>G" "r.spl?" "p.?" "12i" "0000078571" "00010358" "70" "2966" "-3" "2966" "-3" "c.2966-3C>G" "r.spl?" "p.?" "12i" "0000078572" "00010358" "50" "2987" "0" "2987" "0" "c.2987A>T" "r.(?)" "p.(Asn996Ile)" "13" "0000078573" "00010358" "90" "2993" "0" "2993" "0" "c.2993del" "r.(?)" "p.(Phe998Serfs*59)" "13" "0000078574" "00010358" "90" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Trp1001*)" "13" "0000078575" "00010358" "90" "3007" "0" "3007" "0" "c.3007del" "r.(?)" "p.(Asp1003Thrfs*54)" "13" "0000078576" "00010358" "90" "3103" "0" "3103" "0" "c.3103del" "r.(?)" "p.(Arg1035Glyfs*22)" "13" "0000078577" "00010358" "90" "3036" "0" "3048" "0" "c.3036_3048del" "r.(?)" "p.(Arg1014Profs*39)" "13" "0000078578" "00010358" "90" "3040" "0" "3040" "0" "c.3040C>T" "r.(?)" "p.(Arg1014*)" "13" "0000078579" "00010358" "90" "3060" "0" "3060" "0" "c.3060dup" "r.(?)" "p.(Ser1021Glnfs*98)" "13" "0000078580" "00010358" "90" "3090" "0" "3102" "0" "c.3090_3102del" "r.(?)" "p.(Arg1032Alafs*21)" "13" "0000078581" "00010358" "90" "3091" "0" "3101" "0" "c.3091_3101del" "r.(?)" "p.(Gly1031Profs*84)" "13" "0000078582" "00010358" "90" "3092" "0" "3092" "0" "c.3092dup" "r.(?)" "p.(Arg1032Serfs*87)" "13" "0000078583" "00010358" "90" "3092" "0" "3092" "0" "c.3092dup" "r.(?)" "p.(Arg1032Serfs*87)" "13" "0000078584" "00010358" "90" "3094" "0" "3113" "0" "c.3094_3113del" "r.(?)" "p.(Arg1032Glyfs*80)" "13" "0000078585" "00010358" "90" "3096" "0" "3109" "0" "c.3096_3109del" "r.(?)" "p.(Pro1034Glyfs*80)" "13" "0000078586" "00010358" "90" "3093" "0" "3106" "0" "c.3093_3106del" "r.(?)" "p.(Pro1034Glyfs*80)" "13" "0000078587" "00010358" "90" "3096" "0" "3097" "0" "c.3096_3097insGCGGG" "r.(?)" "p.(Arg1033Alafs*26)" "13" "0000078588" "00010358" "90" "3103" "0" "3125" "0" "c.3103_3125del" "r.(?)" "p.(Arg1035Glyfs*76)" "13" "0000078589" "00010358" "90" "3104" "0" "3105" "0" "c.3104_3105insCC" "r.(?)" "p.(Gly1036Argfs*22)" "13" "0000078590" "00010358" "50" "3107" "0" "3107" "0" "c.3107G>A" "r.(?)" "p.(Gly1036Asp)" "13" "0000078591" "00010358" "90" "3107" "0" "3107" "0" "c.3107dup" "r.(?)" "p.(Asp1037Argfs*82)" "13" "0000078592" "00010358" "90" "3113" "0" "3113" "0" "c.3113delins3091_3105" "r.(?)" "p.(Val1038Glyfs*24)" "13" "0000078593" "00010358" "90" "3190" "0" "3199" "0" "c.3190_3199del" "r.(?)" "p.(Leu1064Tyrfs*5)" "14" "0000078594" "00010358" "90" "3252" "0" "3262" "0" "c.3252_3262del" "r.(?)" "p.(Gly1085Hisfs*30)" "14" "0000078595" "00010358" "50" "3278" "0" "3278" "0" "c.3278C>T" "r.(?)" "p.(Pro1093Leu)" "14" "0000078596" "00010358" "70" "3330" "1" "3330" "1" "c.3330+1G>A" "r.spl" "p.?" "14i" "0000078597" "00010358" "50" "3430" "0" "3430" "0" "c.3430G>A" "r.(?)" "p.(Ala1144Thr)" "15" "0000095503" "00010358" "50" "2304" "0" "2305" "0" "c.2304_2305del" "r.(?)" "p.(Leu769Glyfs*34)" "" "0000095523" "00010358" "50" "2398" "112" "2398" "112" "c.2398+112G>T" "r.(?)" "p.(=)" "" "0000095647" "00010358" "50" "3164" "0" "3164" "0" "c.3164G>A" "r.(?)" "p.(Arg1055Gln)" "14" "0000096480" "00010358" "70" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Trp)" "3" "0000096487" "00010358" "70" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "4" "0000116106" "00010358" "10" "2690" "0" "2690" "0" "c.2690A>C" "r.(?)" "p.(Lys897Thr)" "11" "0000218449" "00010358" "50" "2717" "0" "2717" "0" "c.2717C>T" "r.(?)" "p.(Ser906Leu)" "" "0000218483" "00010358" "50" "3448" "0" "3448" "0" "c.3448C>A" "r.(?)" "p.(Leu1150Met)" "" "0000218504" "00010358" "50" "2674" "0" "2674" "0" "c.2674C>T" "r.(?)" "p.(Arg892Cys)" "" "0000222885" "00010358" "90" "2399" "-28" "2399" "-28" "c.2399-28A>G" "r.0" "p.0?" "9i" "0000235470" "00010358" "90" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Arg273Gln)" "4" "0000235471" "00010358" "10" "2690" "0" "2690" "0" "c.2690A>C" "r.(?)" "p.(Lys897Thr)" "11" "0000235472" "00010358" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Cys)" "12" "0000235473" "00010358" "90" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Val279Met)" "4" "0000235474" "00010358" "90" "2653" "0" "2653" "0" "c.2653C>T" "r.(?)" "p.(Arg885Cys)" "11" "0000235475" "00010358" "90" "3118" "0" "3118" "0" "c.3118A>G" "r.(?)" "p.(Ser1040Gly)" "13" "0000241172" "00010358" "90" "2399" "-28" "2399" "-28" "c.2399-28A>G" "r.spl" "p.(=)" "9i" "0000241173" "00010358" "70" "2399" "-28" "2399" "-28" "c.2399-28A>C" "r.spl|[0.20]" "p.(=)" "9i" "0000241174" "00010358" "90" "2399" "-28" "2399" "-28" "c.2399-28A>T" "r.spl|[0.50]" "p.(=)" "9i" "0000241855" "00010358" "90" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Cys44Phe)" "2" "0000241856" "00010358" "90" "77" "0" "77" "0" "c.77G>T" "r.(?)" "p.(Ser26Ile)" "2" "0000241857" "00010358" "90" "82" "0" "82" "0" "c.82A>G" "r.(?)" "p.(Lys28Glu)" "2" "0000241858" "00010358" "90" "87" "0" "87" "0" "c.87C>A" "r.(?)" "p.(Phe29Leu)" "2" "0000241859" "00010358" "90" "87" "0" "87" "0" "c.87C>A" "r.(?)" "p.(Phe29Leu)" "2" "0000241860" "00010358" "90" "560" "0" "568" "0" "c.560_568del" "r.(?)" "p.(Gly187_Gly189del)" "3" "0000241861" "00010358" "90" "87" "0" "87" "0" "c.87C>A" "r.(?)" "p.(Phe29Leu)" "2" "0000241862" "00010358" "90" "92" "0" "92" "0" "c.92T>G" "r.(?)" "p.(Ile31Ser)" "2" "0000241863" "00010358" "90" "98" "0" "98" "0" "c.98A>C" "r.(?)" "p.(Asn33Thr)" "2" "0000241864" "00010358" "90" "98" "0" "98" "0" "c.98A>C" "r.(?)" "p.(Asn33Thr)" "2" "0000241865" "00010358" "90" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.(Tyr43Cys)" "2" "0000241866" "00010358" "90" "132" "0" "132" "0" "c.132C>A" "r.(?)" "p.(Cys44*)" "2" "0000241867" "00010358" "90" "2879" "0" "2879" "0" "c.2879G>A" "r.(?)" "p.(Ser960Asn)" "12" "0000241868" "00010358" "90" "140" "0" "140" "0" "c.140G>T" "r.(?)" "p.(Gly47Val)" "2" "0000241869" "00010358" "90" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Cys49Tyr)" "2" "0000241870" "00010358" "90" "157" "0" "157" "0" "c.157G>C" "r.(?)" "p.(Gly53Arg)" "2" "0000241871" "00010358" "90" "157" "0" "157" "0" "c.157G>C" "r.(?)" "p.(Gly53Arg)" "2" "0000241872" "00010358" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Leu)" "2" "0000241873" "00010358" "90" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Arg56Gln)" "2" "0000241874" "00010358" "90" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Arg56Gln)" "2" "0000241875" "00010358" "90" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Glu58Lys)" "2" "0000241876" "00010358" "90" "173" "0" "173" "0" "c.173A>C" "r.(?)" "p.(Glu58Ala)" "2" "0000241877" "00010358" "90" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Glu58Gly)" "2" "0000241878" "00010358" "90" "174" "0" "174" "0" "c.174G>C" "r.(?)" "p.(Glu58Asp)" "2" "0000241879" "00010358" "90" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Cys64Tyr)" "2" "0000241880" "00010358" "90" "193" "0" "193" "0" "c.193A>C" "r.(?)" "p.(Thr65Pro)" "2" "0000241881" "00010358" "90" "196" "0" "196" "0" "c.196T>G" "r.(?)" "p.(Cys66Gly)" "2" "0000241882" "00010358" "90" "196" "0" "196" "0" "c.196T>G" "r.(?)" "p.(Cys66Gly)" "2" "0000241883" "00010358" "90" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Phe68Leu)" "2" "0000241884" "00010358" "90" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(His70Arg)" "2" "0000241885" "00010358" "90" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(His70Arg)" "2" "0000241886" "00010358" "90" "211" "0" "211" "0" "c.211G>C" "r.(?)" "p.(Gly71Arg)" "2" "0000241887" "00010358" "90" "215" "0" "215" "0" "c.215C>A" "r.(?)" "p.(Pro72Gln)" "2" "0000241888" "00010358" "90" "221" "0" "221" "0" "c.221C>T" "r.(?)" "p.(Thr74Met)" "2" "0000241889" "00010358" "90" "221" "0" "251" "0" "c.221_251del" "r.(?)" "p.(Thr74Argfs*32)" "2" "0000241890" "00010358" "90" "232" "0" "232" "0" "c.232G>C" "r.(?)" "p.(Ala78Pro)" "2" "0000241891" "00010358" "90" "232" "0" "232" "0" "c.232G>C" "r.(?)" "p.(Ala78Pro)" "2" "0000241892" "00010358" "90" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Gln81*)" "2" "0000241893" "00010358" "90" "244" "0" "252" "0" "c.244_252del" "r.(?)" "p.(Ile82_Gln84del)" "2" "0000241894" "00010358" "90" "244" "0" "252" "0" "c.244_252dup" "r.(?)" "p.(Ile82_Gln84dup)" "2" "0000241895" "00010358" "90" "1234" "0" "1250" "0" "c.1234_1250dup" "r.(?)" "p.(Val418Glyfs*22)" "6" "0000241896" "00010358" "90" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Ala85Val)" "2" "0000241897" "00010358" "90" "257" "0" "257" "0" "c.257T>G" "r.(?)" "p.(Leu86Arg)" "2" "0000241898" "00010358" "90" "257" "0" "257" "0" "c.257T>G" "r.(?)" "p.(Leu86Arg)" "2" "0000241899" "00010358" "90" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" "2" "0000241900" "00010358" "90" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" "2" "0000241901" "00010358" "90" "287" "0" "287" "0" "c.287T>C" "r.(?)" "p.(Ile96Thr)" "2" "0000241902" "00010358" "90" "287" "0" "287" "0" "c.287T>C" "r.(?)" "p.(Ile96Thr)" "2" "0000241903" "00010358" "90" "296" "0" "296" "0" "c.296A>C" "r.(?)" "p.(Tyr99Ser)" "2" "0000241904" "00010358" "90" "298" "0" "298" "0" "c.298C>G" "r.(?)" "p.(Arg100Gly)" "2" "0000241905" "00010358" "90" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100Gln)" "2" "0000241906" "00010358" "90" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Lys101Glu)" "2" "0000241907" "00010358" "90" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Lys101Glu)" "2" "0000241908" "00010358" "90" "308" "0" "310" "0" "c.308_310insATG" "r.(?)" "p.(?)" "3" "0000241909" "00010358" "90" "337" "0" "339" "0" "c.337_339del" "r.(?)" "p.(Val113del)" "3" "0000241911" "00010358" "90" "371" "0" "371" "0" "c.371T>G" "r.(?)" "p.(Met124Arg)" "3" "0000241912" "00010358" "90" "371" "0" "371" "0" "c.371T>G" "r.(?)" "p.(Met124Arg)" "3" "0000241913" "00010358" "90" "371" "0" "371" "0" "c.371T>C" "r.(?)" 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"p.(Gly572Asp)" "7" "0000242019" "00010358" "90" "1724" "0" "1724" "0" "c.1724A>G" "r.(?)" "p.(Glu575Gly)" "7" "0000242020" "00010358" "90" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Cys)" "7" "0000242021" "00010358" "90" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Cys)" "7" "0000242022" "00010358" "90" "1745" "0" "1745" "0" "c.1745G>T" "r.(?)" "p.(Arg582Leu)" "7" "0000242023" "00010358" "90" "1750" "0" "1750" "0" "c.1750G>A" "r.(?)" "p.(Gly584Ser)" "7" "0000242024" "00010358" "90" "1750" "0" "1750" "0" "c.1750G>A" "r.(?)" "p.(Gly584Ser)" "7" "0000242025" "00010358" "90" "1755" "0" "1755" "0" "c.1755G>T" "r.(?)" "p.(Trp585Cys)" "7" "0000242026" "00010358" "90" "1762" "0" "1762" "0" "c.1762A>G" "r.(?)" "p.(Asn588Asp)" "7" "0000242027" "00010358" "90" "1778" "0" "1778" "0" "c.1778T>C" "r.(?)" "p.(Ile593Thr)" "7" "0000242028" "00010358" "90" "1778" "0" "1778" "0" "c.1778T>G" "r.(?)" 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"p.(Asp609Asn)" "7" "0000242040" "00010358" "90" "1825" "0" "1825" "0" "c.1825G>A" "r.(?)" "p.(Asp609Asn)" "7" "0000242041" "00010358" "90" "1825" "0" "1825" "0" "c.1825G>C" "r.(?)" "p.(Asp609His)" "7" "0000242042" "00010358" "90" "1826" "0" "1826" "0" "c.1826A>G" "r.(?)" "p.(Asp609Gly)" "7" "0000242043" "00010358" "90" "1831" "0" "1831" "0" "c.1831T>C" "r.(?)" "p.(Tyr611His)" "7" "0000242044" "00010358" "90" "1833" "0" "1833" "0" "c.1833T>R" "r.(?)" "p.(Tyr611*)" "7" "0000242045" "00010358" "90" "1834" "0" "1834" "0" "c.1834G>T" "r.(?)" "p.(Val612Leu)" "7" "0000242046" "00010358" "90" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "7" "0000242047" "00010358" "90" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "7" "0000242048" "00010358" "90" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "7" "0000242049" "00010358" "90" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "7" "0000242050" "00010358" "90" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "7" "0000242051" "00010358" "90" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "7" "0000242052" "00010358" "90" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "7" "0000242053" "00010358" "90" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "7" "0000242054" "00010358" "90" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "7" "0000242055" "00010358" "90" "1843" "0" "1843" "0" "c.1843C>G" "r.(?)" "p.(Leu615Val)" "7" "0000242056" "00010358" "90" "1843" "0" "1843" "0" "c.1843C>T" "r.(?)" "p.(Leu615Phe)" "7" "0000242057" "00010358" "90" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Ser621Asn)" "7" "0000242058" "00010358" "90" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Ser621Asn)" "7" "0000242059" "00010358" "90" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Ser621Asn)" "7" "0000242060" "00010358" "90" "1863" "0" "1863" "0" "c.1863C>G" "r.(?)" "p.(Ser621Arg)" "7" "0000242061" "00010358" "90" "1864" "0" "1864" "0" "c.1864C>T" "r.(?)" "p.(Leu622Phe)" "7" "0000242062" "00010358" "90" "1868" "0" "1868" "0" "c.1868C>T" "r.(?)" "p.(Thr623Ile)" "7" "0000242063" "00010358" "90" "1874" "0" "1874" "0" "c.1874T>A" "r.(?)" "p.(Val625Glu)" "7" "0000242064" "00010358" "90" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.(Gly626Ser)" "7" "0000242065" "00010358" "90" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.(Gly626Ser)" "7" "0000242066" "00010358" "90" "1877" "0" "1877" "0" "c.1877G>C" "r.(?)" "p.(Gly626Ala)" "7" "0000242067" "00010358" "90" "1882" "0" "1882" "0" "c.1882C>G" "r.(?)" "p.(?)" "7" "0000242068" "00010358" "90" "1883" "0" "1883" "0" "c.1883G>T" "r.(?)" "p.(Gly628Val)" "7" "0000242069" "00010358" "90" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Gly628Ser)" "7" "0000242070" "00010358" "90" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Gly628Ser)" "7" "0000242071" "00010358" "90" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Gly628Ser)" "7" "0000242072" "00010358" "90" "1885" "0" "1885" "0" "c.1885A>G" "r.(?)" "p.(Asn629Asp)" "7" "0000242073" "00010358" "90" "1885" "0" "1885" "0" "c.1885A>G" "r.(?)" "p.(Asn629Asp)" "7" "0000242074" "00010358" "90" "1886" "0" "1886" "0" "c.1886A>G" "r.(?)" "p.(Asn629Ser)" "7" "0000242075" "00010358" "90" "1887" "0" "1887" "0" "c.1887C>A" "r.(?)" "p.(Asn629Lys)" "7" "0000242076" "00010358" "90" "1888" "0" "1888" "0" "c.1888G>C" "r.(?)" "p.(Val630Leu)" "7" "0000242077" "00010358" "90" "1889" "0" "1889" "0" "c.1889T>C" "r.(?)" "p.(Val630Ala)" "7" "0000242078" "00010358" "90" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Pro632Ser)" "7" "0000242079" "00010358" "90" "1897" "0" "1897" "0" "c.1897A>G" "r.(?)" "p.(Asn633Asp)" "7" "0000242080" "00010358" "90" "1898" "0" "1898" "0" "c.1898A>G" "r.(?)" "p.(Asn633Ser)" "7" "0000242081" "00010358" "90" "1904" "0" "1904" "0" "c.1904A>T" "r.(?)" "p.(Asn635Ile)" "7" "0000242082" "00010358" "90" "1909" "0" "1909" "0" "c.1909G>A" "r.(?)" "p.(Glu637Lys)" "7" "0000242083" "00010358" "90" "1911" "0" "1911" "0" "c.1911G>C" "r.(?)" "p.(Glu637Asp)" "7" "0000242084" "00010358" "90" "1912" "0" "1912" "0" "c.1912A>G" "r.(?)" "p.(Lys638Glu)" "7" "0000242085" "00010358" "90" "1913" "0" "1915" "0" "c.1913_1915del" "r.(?)" "p.(Lys638del)" "7" "0000242086" "00010358" "90" "1918" "0" "1918" "0" "c.1918T>G" "r.(?)" "p.(Phe640Val)" "7" "0000242087" "00010358" "90" "1920" "0" "1920" "0" "c.1920C>A" "r.(?)" "p.(Phe640Leu)" "7" "0000242088" "00010358" "90" "1920" "0" "1920" "0" "c.1920C>A" "r.(?)" "p.(Phe640Leu)" "7" "0000242089" "00010358" "90" "1922" "0" "1922" "0" "c.1922C>T" "r.(?)" "p.(Ser641Phe)" "7" "0000242090" "00010358" "90" "1930" "0" "1930" "0" "c.1930G>T" "r.(?)" "p.(Val644Phe)" "7" "0000242091" "00010358" "90" "1933" "0" "1933" "0" "c.1933A>T" "r.(?)" "p.(Met645Leu)" "7" "0000242092" "00010358" "90" "1933" "0" "1933" "0" "c.1933A>T" "r.(?)" "p.(Met645Leu)" "7" "0000242093" "00010358" "90" "1933" "0" "1933" "0" "c.1933A>G" "r.(?)" "p.(Met645Val)" "7" "0000242094" "00010358" "90" "1945" "6" "1945" "6" "c.1945+6T>C" "r.(1945_1946ins[gugagc;1945+7_1946-1], =, 1558_1945del)" "p.(=)" "7i" "0000242095" "00010358" "90" "1951" "0" "1952" "0" "c.1951_1952del" "r.(?)" "p.(Met651Valfs*3)" "8" "0000242096" "00010358" "90" "1946" "0" "1946" "0" "c.1946C>T" "r.spl?" "p.(Ser649Phe)" "8" "0000242097" "00010358" "90" "1967" "0" "1967" "0" "c.1967T>G" "r.(?)" "p.(Phe656Cys)" "8" "0000242098" "00010358" "90" "1979" "0" "1979" "0" "c.1979C>T" "r.(?)" "p.(Ser660Leu)" "8" "0000242099" "00010358" "90" "2001" "0" "2001" "0" "c.2001C>A" "r.(?)" "p.(Tyr667*)" "8" "0000242100" "00010358" "90" "2011" "0" "2025" "0" "c.2011_2025del" "r.(?)" "p.(Ala671_Thr675del)" "8" "0000242101" "00010358" "90" "2044" "0" "2044" "0" "c.2044G>T" "r.(?)" "p.(Glu682*)" "8" "0000242102" "00010358" "90" "2086" "0" "2086" "0" "c.2086C>T" "r.(?)" "p.(Arg696Cys)" "8" "0000242103" "00010358" "90" "2087" "0" "2087" "0" "c.2087G>C" "r.(?)" "p.(Arg696Pro)" "8" "0000242104" "00010358" "90" "2092" "0" "2092" "0" "c.2092G>T" "r.(?)" "p.(Glu698*)" "8" "0000242105" "00010358" "90" "2092" "0" "2092" "0" "c.2092G>T" "r.(?)" "p.(Glu698*)" "8" "0000242106" "00010358" "90" "2114" "0" "2114" "0" "c.2114G>A" "r.(?)" "p.(Trp705*)" "8" "0000242107" "00010358" "90" "2117" "0" "2117" "0" "c.2117C>G" "r.(?)" "p.(Ser706Cys)" "8" "0000242108" "00010358" "90" "2145" "0" "2145" "0" "c.2145G>A" "r.spl" "p.(Ala715=)" "8" "0000242109" "00010358" "90" "2146" "-12" "2146" "-2" "c.2146-12_2146-2del" "r.spl" "p.?" "8i" "0000242110" "00010358" "90" "2162" "0" "2162" "0" "c.2162C>T" "r.(?)" "p.(Pro721Leu)" "9" "0000242111" "00010358" "90" "2164" "0" "2181" "0" "c.2164_2181dup" "r.(?)" "p.(Glu722_Asp727dup)" "9" "0000242112" "00010358" "90" "2173" "0" "2173" "0" "c.2173C>T" "r.(?)" "p.(Gln725*)" "9" "0000242113" "00010358" "90" "2204" "0" "2204" "0" "c.2204C>T" "r.(?)" "p.(Ser735Leu)" "9" "0000242114" "00010358" "90" "2218" "0" "2218" "0" "c.2218dup" "r.(?)" "p.(Cys740Leufs*64)" "9" "0000242115" "00010358" "90" "2231" "0" "2231" "0" "c.2231del" "r.(?)" "p.(Arg744Glnfs*13)" "9" "0000242116" "00010358" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "9" "0000242117" "00010358" "90" "2254" "0" "2254" "0" "c.2254C>T" "r.(?)" "p.(Arg752Trp)" "9" "0000242118" "00010358" "90" "2254" "0" "2254" "0" "c.2254C>T" "r.(?)" "p.(Arg752Trp)" "9" "0000242119" "00010358" "90" "2254" "0" "2254" "0" "c.2254G>A" "r.(?)" "p.(?)" "9" "0000242120" "00010358" "90" "2320" "0" "2320" "0" "c.2320G>T" "r.(?)" "p.(Asp774Tyr)" "9" "0000242121" "00010358" "90" "2350" "0" "2350" "0" "c.2350C>T" "r.(?)" "p.(Arg784Trp)" "9" "0000242122" "00010358" "90" "754" "0" "754" "0" "c.754del" "r.(?)" "p.(Arg252Glyfs*108)" "4" "0000242123" "00010358" "90" "2364" "0" "2364" "0" "c.2364G>C" "r.(?)" "p.(Glu788Asp)" "9" "0000242124" "00010358" "90" "2357" "0" "2387" "0" "c.2357_2387dup" "r.(?)" "p.(Ala797Hisfs*17)" "9" "0000242125" "00010358" "90" "2395" "0" "2395" "0" "c.2395del" "r.(?)" "p.(Leu799Trpfs*11)" "9" "0000242126" "00010358" "90" "2398" "3" "2398" "3" "c.2398+3A>G" "r.spl" "p.?" "9i" "0000242127" "00010358" "90" "2398" "3" "2398" "3" "c.2398+3A>T" "r.spl" "p.?" "9i" "0000242128" "00010358" "90" "2398" "0" "2398" "0" "c.2398G>T" "r.(?)" "p.(Gly800Trp)" "9" "0000242129" "00010358" "90" "2398" "1" "2398" "1" "c.2398+1G>C" "r.spl" "p.?" "9i" "0000242130" "00010358" "90" "2398" "1" "2398" "1" "c.2398+1G>C" "r.spl?" "p.?" "9i" "0000242131" "00010358" "90" "2414" "0" "2414" "0" "c.2414T>C" "r.(?)" "p.(Phe805Ser)" "10" "0000242132" "00010358" "90" "2414" "0" "2414" "0" "c.2414T>G" "r.(?)" "p.(Phe805Cys)" "10" "0000242133" "00010358" "90" "2452" "0" "2452" "0" "c.2452T>C" "r.(?)" "p.(Ser818Pro)" "10" "0000242134" "00010358" "90" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Ser818Leu)" "10" "0000242135" "00010358" "90" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Ser818Leu)" "10" "0000242136" "00010358" "90" "2458" "0" "2458" "0" "c.2458G>A" "r.(?)" "p.(Gly820Arg)" "10" "0000242137" "00010358" "90" "2464" "0" "2464" "0" "c.2464G>A" "r.(?)" "p.(Val822Met)" "10" "0000242138" "00010358" "90" "2464" "0" "2464" "0" "c.2464G>A" "r.(?)" "p.(Val822Met)" "10" "0000242139" "00010358" "90" "2473" "0" "2473" "0" "c.2473dup" "r.(?)" "p.(Leu825Profs*5)" "12" "0000242140" "00010358" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Arg823Trp)" "10" "0000242141" "00010358" "90" "2494" "0" "2494" "0" "c.2494A>T" "r.(?)" "p.(Lys832*)" "10" "0000242143" "00010358" "90" "2510" "0" "2510" "0" "c.2510A>G" "r.(?)" "p.(Asp837Gly)" "10" "0000242144" "00010358" "90" "2581" "0" "2581" "0" "c.2581A>C" "r.(?)" "p.(Asn861His)" "10" "0000242145" "00010358" "90" "2582" "0" "2582" "0" "c.2582A>T" "r.(?)" "p.(Asn861Ile)" "10" "0000242146" "00010358" "90" "2587" "0" "2587" "0" "c.2587C>T" "r.(?)" "p.(Arg863*)" "10" "0000242147" "00010358" "90" "2592" "1" "2592" "1" "c.2592+1G>A" "r.spl" "p.?" "10i" "0000242148" "00010358" "90" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Ser621Asn)" "7" "0000242149" "00010358" "90" "2592" "1" "2592" "1" "c.2592+1G>A" "r.spl" "p.?" "10i" "0000242150" "00010358" "90" "2592" "3" "2592" "3" "c.2592+3G>A" "r.spl" "p.?" "10i" "0000242151" "00010358" "90" "2660" "0" "2660" "0" "c.2660del" "r.(?)" "p.(Arg887Profs*87)" "11" "0000242152" "00010358" "90" "2616" "0" "2616" "0" "c.2616del" "r.(?)" "p.(Gly873Alafs*5)" "11" "0000242153" "00010358" "90" "2616" "0" "2616" "0" "c.2616del" "r.(?)" "p.(Gly873Alafs*5)" "11" "0000242154" "00010358" "90" "2619" "0" "2626" "0" "c.2619_2626dup8" "r.(?)" "p.(Glu876Alafs*5)" "11" "0000242155" "00010358" "90" "2626" "0" "2626" "0" "c.2626G>T" "r.(?)" "p.(Glu876*)" "11" "0000242156" "00010358" "90" "2639" "0" "2649" "0" "c.2639_2649del" "r.(?)" "p.(Gly880Alafs*36)" "11" "0000242158" "00010358" "90" "2660" "0" "2660" "0" "c.2660G>A" "r.(?)" "p.(Arg887His)" "11" "0000242159" "00010358" "90" "2676" "0" "2682" "0" "c.2676_2682del" "r.(?)" "p.(Arg894Thrfs*78)" "11" "0000242160" "00010358" "90" "2705" "0" "2705" "0" "c.2705del" "r.(?)" "p.(Pro902Glnfs*72)" "12" "0000242161" "00010358" "90" "2732" "0" "2766" "0" "c.2732_2766del" "r.(?)" "p.(Gly911Alafs*17)" "12" "0000242162" "00010358" "90" "2738" "0" "2738" "0" "c.2738C>T" "r.(?)" "p.(Ala913Val)" "12" "0000242163" "00010358" "90" "2738" "0" "2739" "0" "c.2738_2739insCGGC" "r.(?)" "p.(Ala915Glyfs*6)" "12" "0000242164" "00010358" "90" "2742" "0" "2775" "0" "c.2742_2775del" "r.(?)" "p.(Ala915Argfs*48)" "12" "0000242165" "00010358" "90" "2750" "0" "2750" "0" "c.2750C>T" "r.(?)" "p.(Pro917Leu)" "12" "0000242166" "00010358" "90" "2762" "0" "2762" "0" "c.2762del" "r.(?)" "p.(Gly921Alafs*53)" "12" "0000242167" "00010358" "90" "2764" "0" "2764" "0" "c.2764C>T" "r.(?)" "p.(Arg922Trp)" "12" "0000242168" "00010358" "90" "2766" "0" "2766" "0" "c.2766del" "r.(?)" "p.(Pro923Argfs*51)" "12" "0000242169" "00010358" "90" "2768" "0" "2768" "0" "c.2768del" "r.(?)" "p.(Pro923Argfs*51)" "12" "0000242170" "00010358" "90" "2775" "0" "2775" "0" "c.2775dup" "r.(?)" "p.(Pro926Alafs*14)" "12" "0000242171" "00010358" "90" "2775" "0" "2775" "0" "c.2775del" "r.(?)" "p.(Pro926Argfs*48)" "12" "0000242172" "00010358" "90" "2781" "0" "2781" "0" "c.2781G>A" "r.(?)" "p.(Trp927*)" "12" "0000242173" "00010358" "90" "2841" "0" "2841" "0" "c.2841C>T" "r.(=)" "p.(=)" "12" "0000242175" "00010358" "90" "1704" "0" "1704" "0" "c.1704G>T" "r.(?)" "p.(Trp568Cys)" "7" "0000242176" "00010358" "90" "2895" "0" "2905" "0" "c.2895_2905del" "r.(?)" "p.(Glu966Trpfs*149)" "12" "0000242177" "00010358" "90" "2903" "0" "2903" "0" "c.2903C>T" "r.(?)" "p.(Pro968Leu)" "12" "0000242178" "00010358" "90" "2906" "0" "2906" "0" "c.2906del" "r.(?)" "p.(Gly969Valfs*5)" "12" "0000242179" "00010358" "90" "2959" "0" "2959" "0" "c.2959del" "r.(?)" "p.(Leu987Cysfs*70)" "12" "0000242180" "00010358" "90" "0" "0" "0" "0" "c.(3002ˆ3003)G>A" "r.(?)" "p.(Trp1001*)" "13" "0000242181" "00010358" "90" "3040" "0" "3040" "0" "c.3040C>T" "r.(?)" "p.(Arg1014*)" "13" "0000242182" "00010358" "90" "3045" "0" "3045" "0" "c.3045C>A" "r.(?)" "p.(Cys1015*)" "13" "0000242183" "00010358" "90" "3093" "0" "3106" "0" "c.3093_3106del" "r.(?)" "p.(Pro1034Glyfs*80)" "13" "0000242184" "00010358" "90" "3094" "0" "3099" "0" "c.3094_3099delinsTCGC" "r.(?)" "p.(Arg1032Serfs*86)" "13" "0000242185" "00010358" "90" "3094" "0" "3094" "0" "c.3094del" "r.(?)" "p.(Arg1032Glyfs*25)" "13" "0000242186" "00010358" "90" "3096" "0" "3112" "0" "c.3096_3112del" "r.(?)" "p.(Arg1033Glyfs*80)" "13" "0000242187" "00010358" "90" "3099" "0" "3099" "0" "c.3099del" "r.(?)" "p.(Arg1035Glyfs*22)" "13" "0000242188" "00010358" "90" "3103" "0" "3103" "0" "c.3103del" "r.(?)" "p.(Arg1035Glyfs*22)" "13" "0000242189" "00010358" "90" "3107" "0" "3107" "0" "c.3107dup" "r.(?)" "p.(Asp1037Argfs*82)" "13" "0000242190" "00010358" "90" "1724" "0" "1724" "0" "c.1724A>G" "r.(?)" "p.(Glu575Gly)" "7" "0000242191" "00010358" "90" "3106" "0" "3109" "0" "c.3106_3109dup" "r.(?)" "p.(Asp1037Glyfs*83)" "13" "0000242193" "00010358" "90" "3154" "0" "3154" "0" "c.3154del" "r.(?)" "p.(Leu1052Trpfs*5)" "14" "0000242194" "00010358" "90" "3303" "0" "3303" "0" "c.3303dup" "r.(?)" "p.(Thr1102Hisfs*17)" "" "0000242195" "00010358" "90" "3303" "0" "3303" "0" "c.3303dup" "r.(?)" "p.(Thr1102Hisfs*17)" "14" "0000242196" "00010358" "90" "3399" "0" "3400" "0" "c.3399_3400del" "r.(?)" "p.(Arg1134Thrfs*135)" "15" "0000242197" "00010358" "90" "3457" "0" "3457" "0" "c.3457C>T" "r.(?)" "p.(His1153Tyr)" "15" "0000242198" "00010358" "10" "307" "27" "307" "27" "c.307+27G>C" "r.(?)" "p.(=)" "2i" "0000242199" "00010358" "10" "98" "0" "98" "0" "c.98A>C" "r.(?)" "p.(Asn33Thr)" "2" "0000242200" "00010358" "10" "473" "-34" "473" "-34" "c.473-34A>G" "r.(=)" "p.(=)" "3i" "0000242201" "00010358" "10" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "4" "0000242202" "00010358" "10" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "4" "0000242203" "00010358" "10" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Arg181Gln)" "4" "0000242204" "00010358" "10" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Gly187Ser)" "4" "0000242205" "00010358" "10" "560" "0" "568" "0" "c.560_568del" "r.(?)" "p.(Gly187_Gly189del)" "4" "0000242206" "00010358" "10" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Ala190Thr)" "4" "0000242207" "00010358" "10" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Ala203Thr)" "4" "0000242208" "00010358" "10" "644" "0" "644" "0" "c.644T>G" "r.(?)" "p.(Val215Gly)" "4" "0000242209" "00010358" "10" "751" "0" "751" "0" "c.751C>G" "r.(?)" "p.(Pro251Ala)" "4" "0000242210" "00010358" "10" "762" "0" "762" "0" "c.762C>G" "r.(?)" "p.(His254Gln)" "4" "0000242211" "00010358" "10" "769" "0" "769" "0" "c.769A>C" "r.(?)" "p.(Asn257His)" "4" "0000242212" "00010358" "10" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Pro347Ser)" "5" "0000242213" "00010358" "10" "1099" "0" "1099" "0" "c.1099A>T" "r.(?)" "p.(Thr367Ser)" "5" "0000242214" "00010358" "10" "1056" "0" "1056" "0" "c.1056C>T" "r.(=)" "p.(=)" "5" "0000242215" "00010358" "10" "1467" "0" "1467" "0" "c.1467C>T" "r.(=)" "p.(=)" "6" "0000242216" "00010358" "10" "1467" "0" "1467" "0" "c.1467C>T" "r.(=)" "p.(=)" "6" "0000242217" "00010358" "10" "1467" "0" "1467" "0" "c.1467C>T" "r.(=)" "p.(=)" "6" "0000242218" "00010358" "10" "1467" "0" "1467" "0" "c.1467C>T" "r.(=)" "p.(=)" "6" "0000242219" "00010358" "10" "1467" "0" "1467" "0" "c.1467C>T" "r.(=)" "p.(=)" "6" "0000242220" "00010358" "10" "1539" "0" "1539" "0" "c.1539C>T" "r.(=)" "p.(=)" "6" "0000242221" "00010358" "10" "1539" "0" "1539" "0" "c.1539C>T" "r.(=)" "p.(=)" "6" "0000242222" "00010358" "10" "1539" "0" "1539" "0" "c.1539C>T" "r.(=)" "p.(=)" "6" "0000242223" "00010358" "10" "1539" "0" "1539" "0" "c.1539C>T" "r.(=)" "p.(=)" "6" "0000242224" "00010358" "10" "1539" "0" "1539" "0" "c.1539C>T" "r.(=)" "p.(=)" "6" "0000242225" "00010358" "10" "1692" "0" "1692" "0" "c.1692A>G" "r.(=)" "p.(=)" "7" "0000242226" "00010358" "10" "1692" "0" "1692" "0" "c.1692A>G" "r.(=)" "p.(=)" "7" "0000242227" "00010358" "10" "1692" "0" "1692" "0" "c.1692A>G" "r.(=)" "p.(=)" "7" "0000242228" "00010358" "10" "1956" "0" "1956" "0" "c.1956T>C" "r.(=)" "p.(=)" "8" "0000242229" "00010358" "10" "1956" "0" "1956" "0" "c.1956T>C" "r.(=)" "p.(=)" "8" "0000242230" "00010358" "10" "1956" "0" "1956" "0" "c.1956T>C" "r.(=)" "p.(=)" "8" "0000242231" "00010358" "10" "1956" "0" "1956" "0" "c.1956T>C" "r.(=)" "p.(=)" "8" "0000242232" "00010358" "10" "2146" "-61" "2146" "-61" "c.2146-61A>G" "r.(=)" "p.(=)" "8i" "0000242233" "00010358" "10" "2146" "-61" "2146" "-61" "c.2146-61A>G" "r.(=)" "p.(=)" "8i" "0000242234" "00010358" "10" "2145" "39" "2145" "39" "c.2145+39G>A" "r.(?)" "p.(=)" "8i" "0000242235" "00010358" "10" "2145" "40" "2145" "40" "c.2145+40G>A" "r.(?)" "p.(=)" "8i" "0000242236" "00010358" "10" "2167" "0" "2167" "0" "c.2167T>C" "r.(?)" "p.(Cys723Arg)" "9" "0000242237" "00010358" "10" "2965" "22" "2965" "22" "c.2965+22A>G" "r.(?)" "p.(?)" "12i" "0000242238" "00010358" "10" "2617" "0" "2617" "0" "c.2617G>A" "r.(?)" "p.(Gly873Ser)" "11" "0000242239" "00010358" "10" "2624" "0" "2624" "0" "c.2624C>T" "r.(?)" "p.(Thr875Met)" "11" "0000242240" "00010358" "10" "2660" "0" "2660" "0" "c.2660G>A" "r.(?)" "p.(Arg887His)" "11" "0000242241" "00010358" "10" "2690" "0" "2690" "0" "c.2690A>C" "r.(?)" "p.(Lys897Thr)" "11" "0000242242" "00010358" "10" "2690" "0" "2690" "0" "c.2690A>C" "r.(?)" "p.(Lys897Thr)" "11" "0000242243" "00010358" "10" "2690" "0" "2690" "0" "c.2690A>C" "r.(?)" "p.(Lys897Thr)" "11" "0000242244" "00010358" "10" "2690" "0" "2690" "0" "c.2690A>C" "r.(?)" "p.(Lys897Thr)" "11" "0000242245" "00010358" "10" "3152" "12" "3152" "12" "c.3152+12C>A" "r.(?)" "p.(=)" "13i" "0000242246" "00010358" "10" "2729" "0" "2729" "0" "c.2729C>T" "r.(?)" "p.(Pro910Leu)" "12" "0000242247" "00010358" "10" "2744" "0" "2744" "0" "c.2744C>T" "r.(?)" "p.(Ala915Val)" "12" "0000242248" "00010358" "10" "2750" "0" "2750" "0" "c.2750C>T" "r.(?)" "p.(Pro917Leu)" "12" "0000242249" "00010358" "10" "2750" "0" "2750" "0" "c.2750C>T" "r.(?)" "p.(Pro917Leu)" "12" "0000242250" "00010358" "10" "2893" "0" "2893" "0" "c.2893G>A" "r.(?)" "p.(Gly965Arg)" "12" "0000242251" "00010358" "10" "2900" "0" "2900" "0" "c.2900C>T" "r.(?)" "p.(Pro967Leu)" "12" "0000242252" "00010358" "10" "3067" "0" "3069" "0" "c.3067_3069del" "r.(?)" "p.(Leu1023del)" "13" "0000242253" "00010358" "10" "3103" "0" "3103" "0" "c.3103C>T" "r.(?)" "p.(Arg1035Trp)" "13" "0000242254" "00010358" "10" "3140" "0" "3140" "0" "c.3140G>T" "r.(?)" "p.(Arg1047Leu)" "13" "0000242255" "00010358" "10" "3140" "0" "3140" "0" "c.3140G>T" "r.(?)" "p.(Arg1047Leu)" "13" "0000242256" "00010358" "10" "3152" "22" "3152" "22" "c.3152+22G>A" "r.(?)" "p.(=)" "13i" "0000242257" "00010358" "10" "3152" "22" "3152" "22" "c.3152+22G>A" "r.(?)" "p.(=)" "13i" "0000242258" "00010358" "10" "3164" "0" "3164" "0" "c.3164G>A" "r.(?)" "p.(Arg1055Gln)" "14" "0000242259" "00010358" "10" "3173" "0" "3173" "0" "c.3173C>A" "r.(?)" "p.(Ala1058Glu)" "14" "0000242260" "00010358" "10" "3203" "0" "3203" "0" "c.3203A>G" "r.(?)" "p.(Gln1068Arg)" "14" "0000242261" "00010358" "10" "3322" "0" "3322" "0" "c.3322C>G" "r.(?)" "p.(Leu1108Val)" "14" "0000242262" "00010358" "10" "3460" "0" "3460" "0" "c.3460G>A" "r.(?)" "p.(Gly1154Ser)" "15" "0000242441" "00010358" "50" "2503" "0" "2503" "0" "c.2503C>T" "r.(?)" "p.(Arg835Trp)" "" "0000242455" "00010358" "90" "395" "0" "456" "0" "c.395_456del" "r.(?)" "p.(Val132Glufs*179)" "3" "0000242465" "00010358" "50" "560" "0" "568" "0" "c.560_568dup" "r.(?)" "p.(Gly187_Gly189dup)" "4" "0000242466" "00010358" "30" "626" "0" "627" "0" "c.626_627insCCT" "r.(?)" "p.(Leu210dup)" "4" "0000242522" "00010358" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366*)" "5" "0000242523" "00010358" "90" "1128" "0" "1128" "0" "c.1128G>A" "r.spl" "p.(Gln376=)" "5" "0000242524" "00010358" "90" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Ala422Thr)" "6" "0000242525" "00010358" "90" "157" "0" "157" "0" "c.157G>C" "r.(?)" "p.(Gly53Arg)" "2" "0000242526" "00010358" "90" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Cys)" "7" "0000242527" "00010358" "90" "1655" "0" "1655" "0" "c.1655T>C" "r.(?)" "p.(Leu552Ser)" "7" "0000242528" "00010358" "90" "1681" "0" "1681" "0" "c.1681G>A" "r.(?)" "p.(Ala561Thr)" "7" "0000242529" "00010358" "90" "1682" "0" "1682" "0" "c.1682C>T" "r.(?)" "p.(Ala561Val)" "7" "0000242530" "00010358" "90" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Cys)" "7" "0000242531" "00010358" "90" "1750" "0" "1750" "0" "c.1750G>A" "r.(?)" "p.(Gly584Ser)" "7" "0000242532" "00010358" "90" "1762" "0" "1762" "0" "c.1762A>G" "r.(?)" "p.(Asn588Asp)" "7" "0000242533" "00010358" "90" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Gly604Ser)" "7" "0000242534" "00010358" "90" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "7" "0000242535" "00010358" "90" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Ala614Val)" "7" "0000242536" "00010358" "90" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Gly628Ser)" "7" "0000242537" "00010358" "90" "1889" "0" "1889" "0" "c.1889T>C" "r.(?)" "p.(Val630Ala)" "7" "0000242538" "00010358" "90" "1898" "0" "1898" "0" "c.1898A>G" "r.(?)" "p.(Asn633Ser)" "7" "0000242539" "00010358" "90" "193" "0" "193" "0" "c.193A>C" "r.(?)" "p.(Thr65Pro)" "2" "0000242540" "00010358" "90" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(His70Arg)" "2" "0000242541" "00010358" "90" "232" "0" "232" "0" "c.232G>C" "r.(?)" "p.(Ala78Pro)" "2" "0000242542" "00010358" "90" "2350" "0" "2350" "0" "c.2350C>T" "r.(?)" "p.(Arg784Trp)" "9" "0000242543" "00010358" "90" "2398" "5" "2398" "5" "c.2398+5G>T" "r.(?)" "p.?" "9i" "0000242544" "00010358" "90" "2414" "0" "2414" "0" "c.2414T>G" "r.(?)" "p.(Phe805Cys)" "10" "0000242545" "00010358" "90" "2464" "0" "2464" "0" "c.2464G>A" "r.(?)" "p.(Val822Met)" "10" "0000242546" "00010358" "90" "2587" "0" "2587" "0" "c.2587C>T" "r.(?)" "p.(Arg863*)" "10" "0000242547" "00010358" "90" "2773" "0" "2773" "0" "c.2773G>A" "r.(?)" "p.(Gly925Arg)" "12" "0000242548" "00010358" "90" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "12" "0000242549" "00010358" "90" "2987" "0" "2987" "0" "c.2987A>T" "r.(?)" "p.(Asn996Ile)" "13" "0000242550" "00010358" "90" "3040" "0" "3040" "0" "c.3040C>T" "r.(?)" "p.(Arg1014*)" "13" "0000242551" "00010358" "90" "3107" "0" "3107" "0" "c.3107G>A" "r.(?)" "p.(Gly1036Asp)" "13" "0000242552" "00010358" "90" "3157" "0" "3157" "0" "c.3157G>T" "r.(?)" "p.(Glu1053*)" "14" "0000242553" "00010358" "90" "77" "0" "78" "0" "c.77_78delinsTT" "r.(?)" "p.(Ser26Ile)" "2" "0000242554" "00010358" "90" "87" "0" "87" "0" "c.87C>A" "r.(?)" "p.(Phe29Leu)" "2" "0000242555" "00010358" "90" "221" "0" "251" "0" "c.221_251del" "r.(?)" "p.(Thr74Argfs*32)" "2" "0000242556" "00010358" "90" "3017" "0" "3017" "0" "c.3017del" "r.(?)" "p.(Gly1006Alafs*51)" "13" "0000242557" "00010358" "90" "3101" "0" "3108" "0" "c.3101_3108del" "r.(?)" "p.(Pro1034Argfs*82)" "13" "0000242558" "00010358" "90" "3103" "0" "3103" "0" "c.3103del" "r.(?)" "p.(Arg1035Glyfs*22)" "13" "0000242559" "00010358" "90" "981" "0" "991" "0" "c.981_991del" "r.(?)" "p.(Tyr327*)" "5" "0000242560" "00010358" "90" "2395" "0" "2395" "0" "c.2395del" "r.(?)" "p.(Leu799Trpfs*11)" "9" "0000242561" "00010358" "90" "2762" "0" "2762" "0" "c.2762del" "r.(?)" "p.(Gly921Alafs*53)" "12" "0000242562" "00010358" "90" "3106" "0" "3112" "0" "c.3106_3112dup" "r.(?)" "p.(Val1038Glyfs*83)" "13" "0000242563" "00010358" "90" "453" "0" "453" "0" "c.453dup" "r.(?)" "p.(Thr152Hisfs*180)" "3" "0000242564" "00010358" "90" "3098" "0" "3099" "0" "c.3098_3099dup" "r.(?)" "p.(Pro1034Glyfs*24)" "13" "0000242565" "00010358" "90" "2785" "0" "2785" "0" "c.2785dup" "r.(?)" "p.(Glu929Glyfs*11)" "12" "0000242566" "00010358" "90" "3172" "0" "3172" "0" "c.3172dup" "r.(?)" "p.(Ala1058Glyfs*61)" "14" "0000242567" "00010358" "90" "3167" "0" "3167" "0" "c.3167dup" "r.(?)" "p.(Ser1057Glufs*62)" "14" "0000242582" "00010358" "11" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Arg181Gln)" "4" "0000242583" "00010358" "11" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Gly187Ser)" "4" "0000242584" "00010358" "11" "560" "0" "568" "0" "c.560_568del" "r.(?)" "p.(Gly187_Gly189del)" "3i" "0000242585" "00010358" "11" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Ala190Thr)" "4" "0000242586" "00010358" "11" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Ala203Thr)" "4" "0000242587" "00010358" "11" "769" "0" "769" "0" "c.769A>C" "r.(?)" "p.(Asn257His)" "4" "0000242588" "00010358" "11" "1099" "0" "1099" "0" "c.1099A>T" "r.(?)" "p.(Thr367Ser)" "5" "0000242589" "00010358" "11" "2617" "0" "2617" "0" "c.2617G>A" "r.(?)" "p.(Gly873Ser)" "11" "0000242590" "00010358" "11" "2690" "0" "2690" "0" "c.2690A>C" "r.(?)" "p.(Lys897Thr)" "11" "0000242591" "00010358" "11" "2729" "0" "2729" "0" "c.2729C>T" "r.(?)" "p.(Pro910Leu)" "12" "0000242592" "00010358" "11" "2900" "0" "2900" "0" "c.2900C>T" "r.(?)" "p.(Pro967Leu)" "12" "0000242593" "00010358" "11" "3103" "0" "3103" "0" "c.3103C>T" "r.(?)" "p.(Arg1035Trp)" "13" "0000242594" "00010358" "11" "3140" "0" "3140" "0" "c.3140G>T" "r.(?)" "p.(Arg1047Leu)" "13" "0000242595" "00010358" "11" "3173" "0" "3173" "0" "c.3173C>A" "r.(?)" "p.(Ala1058Glu)" "14" "0000242596" "00010358" "11" "3203" "0" "3203" "0" "c.3203A>G" "r.(?)" "p.(Gln1068Arg)" "14" "0000242607" "00010358" "11" "98" "0" "98" "0" "c.98A>C" "r.(?)" "p.(Asn33Thr)" "2" "0000242608" "00010358" "11" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "4" "0000242609" "00010358" "11" "644" "0" "644" "0" "c.644T>G" "r.(?)" "p.(Val215Gly)" "4" "0000242610" "00010358" "11" "762" "0" "762" "0" "c.762C>G" "r.(?)" "p.(His254Gln)" "4" "0000242611" "00010358" "11" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Pro347Ser)" "5" "0000242612" "00010358" "11" "2167" "0" "2167" "0" "c.2167T>C" "r.(?)" "p.(Cys723Arg)" "9" "0000242613" "00010358" "11" "2690" "0" "2690" "0" "c.2690A>C" "r.(?)" "p.(Lys897Thr)" "11" "0000242614" "00010358" "11" "2750" "0" "2750" "0" "c.2750C>T" "r.(?)" "p.(Pro917Leu)" "12" "0000242615" "00010358" "11" "3067" "-3069" "3067" "-3069" "c.3067-3069del" "r.(?)" "p.(Leu1023del)" "8i" "0000242616" "00010358" "11" "3140" "0" "3140" "0" "c.3140G>T" "r.(?)" "p.(Arg1047Leu)" "13" "0000242623" "00010358" "11" "2690" "0" "2690" "0" "c.2690A>C" "r.(?)" "p.(Lys897Thr)" "11" "0000242624" "00010358" "11" "2744" "0" "2744" "0" "c.2744C>T" "r.(?)" "p.(Ala915Val)" "12" "0000242630" "00010358" "11" "751" "0" "751" "0" "c.751C>G" "r.(?)" "p.(Pro251Ala)" "4" "0000242631" "00010358" "11" "2690" "0" "2690" "0" "c.2690A>C" "r.(?)" "p.(Lys897Thr)" "11" "0000246544" "00025348" "10" "936" "0" "936" "0" "c.936T>C" "r.(?)" "p.(Tyr312=)" "" "0000246544" "00010358" "10" "1956" "0" "1956" "0" "c.1956T>C" "r.(?)" "p.(Tyr652=)" "" "0000246647" "00025348" "50" "1147" "0" "1147" "0" "c.1147T>G" "r.(?)" "p.(Cys383Gly)" "" "0000246647" "00010358" "50" "2167" "0" "2167" "0" "c.2167T>G" "r.(?)" "p.(Cys723Gly)" "" "0000247833" "00025348" "10" "936" "0" "936" "0" "c.936T>C" "r.(?)" "p.(Tyr312=)" "" "0000247833" "00010358" "10" "1956" "0" "1956" "0" "c.1956T>C" "r.(?)" "p.(Tyr652=)" "" "0000250615" "00025348" "10" "936" "0" "936" "0" "c.936T>C" "r.(?)" "p.(Tyr312=)" "" "0000250615" "00010358" "10" "1956" "0" "1956" "0" "c.1956T>C" "r.(?)" "p.(Tyr652=)" "" "0000252409" "00025348" "70" "-19255" "0" "-19255" "0" "c.-19255T>C" "r.(?)" "p.(=)" "" "0000252409" "00010358" "70" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" "" "0000252967" "00025348" "10" "936" "0" "936" "0" "c.936T>C" "r.(?)" "p.(Tyr312=)" "" "0000252967" "00010358" "10" "1956" "0" "1956" "0" "c.1956T>C" "r.(?)" "p.(Tyr652=)" "" "0000278301" "00025348" "10" "2475" "0" "2475" "0" "c.*15G>A" "r.(=)" "p.(=)" "" "0000278301" "00010358" "10" "3495" "0" "3495" "0" "c.*15G>A" "r.(=)" "p.(=)" "" "0000278302" "00025348" "30" "-1877" "0" "-1877" "0" "c.-1877C>T" "r.(?)" "p.(=)" "" "0000278302" "00010358" "30" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Pro347Ser)" "" "0000278303" "00025348" "10" "109" "-18" "109" "-18" "c.109-18C>T" "r.(=)" "p.(=)" "" "0000278303" "00010358" "10" "1129" "-18" "1129" "-18" "c.1129-18C>T" "r.(=)" "p.(=)" "" "0000278304" "00025348" "10" "-19395" "0" "-19395" "0" "c.-19395C>T" "r.(?)" "p.(=)" "" "0000278304" "00010358" "10" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Ala40=)" "" "0000278305" "00025348" "10" "258" "0" "258" "0" "c.258C>T" "r.(?)" "p.(Pro86=)" "" "0000278305" "00010358" "10" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Pro426=)" "" "0000278306" "00025348" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Leu93=)" "" "0000278306" "00010358" "30" "1297" "0" "1297" "0" "c.1297C>T" "r.(?)" "p.(Leu433=)" "" "0000278307" "00025348" "90" "289" "0" "289" "0" "c.289G>T" "r.(?)" "p.(Glu97Ter)" "" "0000278307" "00010358" "90" "1309" "0" "1309" "0" "c.1309G>T" "r.(?)" "p.(Glu437Ter)" "" "0000278308" "00025348" "10" "312" "0" "312" "0" "c.312G>A" "r.(?)" "p.(Glu104=)" "" "0000278308" "00010358" "10" "1332" "0" "1332" "0" "c.1332G>A" "r.(?)" "p.(Glu444=)" "" "0000278309" "00025348" "10" "447" "0" "447" "0" "c.447C>T" "r.(?)" "p.(Ile149=)" "" "0000278309" "00010358" "10" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Ile489=)" "" "0000278310" "00025348" "10" "519" "0" "519" "0" "c.519C>T" "r.(?)" "p.(Phe173=)" "" "0000278310" "00010358" "10" "1539" "0" "1539" "0" "c.1539C>T" "r.(?)" "p.(Phe513=)" "" "0000278311" "00025348" "10" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.(Ile181=)" "" "0000278311" "00010358" "10" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Ile521=)" "" "0000278312" "00025348" "10" "15" "0" "15" "0" "c.15C>T" "r.(?)" "p.(Ala5=)" "" "0000278312" "00010358" "10" "1128" "1802" "1128" "1802" "c.1128+1802C>T" "r.(=)" "p.(=)" "" "0000278313" "00025348" "10" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Arg194=)" "" "0000278313" "00010358" "10" "1602" "0" "1602" "0" "c.1602C>T" "r.(?)" "p.(Arg534=)" "" "0000278314" "00025348" "90" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Ala221Val)" "" "0000278314" "00010358" "90" "1682" "0" "1682" "0" "c.1682C>T" "r.(?)" "p.(Ala561Val)" "" "0000278315" "00025348" "10" "672" "0" "672" "0" "c.672A>G" "r.(?)" "p.(Leu224=)" "" "0000278315" "00010358" "10" "1692" "0" "1692" "0" "c.1692A>G" "r.(?)" "p.(Leu564=)" "" "0000278316" "00025348" "70" "688" "0" "688" "0" "c.688G>T" "r.(?)" "p.(Ala230Ser)" "" "0000278316" "00010358" "70" "1708" "0" "1708" "0" "c.1708G>T" "r.(?)" "p.(Ala570Ser)" "" "0000278317" "00025348" "70" "862" "0" "864" "0" "c.862_864del" "r.(?)" "p.(Gly288del)" "" "0000278317" "00010358" "70" "1882" "0" "1884" "0" "c.1882_1884del" "r.(?)" "p.(Gly628del)" "" "0000278318" "00025348" "10" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Cys303=)" "" "0000278318" "00010358" "10" "1929" "0" "1929" "0" "c.1929C>T" "r.(?)" "p.(Cys643=)" "" "0000278319" "00025348" "10" "926" "-9" "926" "-9" "c.926-9C>T" "r.(=)" "p.(=)" "" "0000278319" "00010358" "10" "1946" "-9" "1946" "-9" "c.1946-9C>T" "r.(=)" "p.(=)" "" "0000278320" "00025348" "70" "-19300" "0" "-19300" "0" "c.-19300C>G" "r.(?)" "p.(=)" "" "0000278320" "00010358" "70" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Pro72Arg)" "" "0000278321" "00025348" "10" "1245" "0" "1245" "0" "c.1245C>T" "r.(?)" "p.(Ala415=)" "" "0000278321" "00010358" "10" "2265" "0" "2265" "0" "c.2265C>T" "r.(?)" "p.(Ala755=)" "" "0000278322" "00025348" "10" "1311" "0" "1311" "0" "c.1311C>T" "r.(?)" "p.(Thr437=)" "" "0000278322" "00010358" "10" "2331" "0" "2331" "0" "c.2331C>T" "r.(?)" "p.(Thr777=)" "" "0000278323" "00025348" "90" "1334" "0" "1334" "0" "c.1334G>T" "r.(?)" "p.(Gly445Val)" "" "0000278323" "00010358" "90" "2354" "0" "2354" "0" "c.2354G>T" "r.(?)" "p.(Gly785Val)" "" "0000278324" "00025348" "10" "1356" "0" "1356" "0" "c.1356C>T" "r.(?)" "p.(Gly452=)" "" "0000278324" "00010358" "10" "2376" "0" "2376" "0" "c.2376C>T" "r.(?)" "p.(Gly792=)" "" "0000278325" "00025348" "10" "1434" "0" "1434" "0" "c.1434G>A" "r.(?)" "p.(Ser478=)" "" "0000278325" "00010358" "10" "2454" "0" "2454" "0" "c.2454G>A" "r.(?)" "p.(Ser818=)" "" "0000278326" "00025348" "10" "24" "0" "24" "0" "c.24G>A" "r.(?)" "p.(Ala8=)" "" "0000278326" "00010358" "10" "1128" "1811" "1128" "1811" "c.1128+1811G>A" "r.(=)" "p.(=)" "" "0000278327" "00025348" "70" "1484" "0" "1484" "0" "c.1484G>A" "r.(?)" "p.(Arg495Gln)" "" "0000278327" "00010358" "70" "2504" "0" "2504" "0" "c.2504G>A" "r.(?)" "p.(Arg835Gln)" "" "0000278328" "00025348" "30" "1378" "156" "1378" "156" "c.1378+156G>A" "r.(=)" "p.(=)" "" "0000278328" "00010358" "30" "2398" "156" "2398" "156" "c.2398+156G>A" "r.(=)" "p.(=)" "" "0000278329" "00025348" "50" "1378" "235" "1378" "235" "c.1378+235G>A" "r.(=)" "p.(=)" "" "0000278329" "00010358" "50" "2398" "235" "2398" "235" "c.2398+235G>A" "r.(=)" "p.(=)" "" "0000278330" "00025348" "10" "1629" "0" "1629" "0" "c.1629G>T" "r.(?)" "p.(Arg543=)" "" "0000278330" "00010358" "10" "2649" "0" "2649" "0" "c.2649G>T" "r.(?)" "p.(Arg883=)" "" "0000278332" "00025348" "10" "1670" "0" "1670" "0" "c.1670A>C" "r.(?)" "p.(Lys557Thr)" "" "0000278332" "00010358" "10" "2690" "0" "2690" "0" "c.2690A>C" "r.(?)" "p.(Lys897Thr)" "" "0000278333" "00025348" "10" "1672" "13" "1672" "13" "c.1672+13A>G" "r.(=)" "p.(=)" "" "0000278333" "00010358" "10" "2692" "13" "2692" "13" "c.2692+13A>G" "r.(=)" "p.(=)" "" "0000278334" "00025348" "10" "1672" "18" "1672" "18" "c.1672+18A>G" "r.(=)" "p.(=)" "" "0000278334" "00010358" "10" "2692" "18" "2692" "18" "c.2692+18A>G" "r.(=)" "p.(=)" "" "0000278335" "00025348" "10" "1672" "7" "1672" "7" "c.1672+7C>G" "r.(=)" "p.(=)" "" "0000278335" "00010358" "10" "2692" "7" "2692" "7" "c.2692+7C>G" "r.(=)" "p.(=)" "" "0000278336" "00025348" "50" "1687" "0" "1687" "0" "c.1687G>A" "r.(?)" "p.(Gly563Arg)" "" "0000278336" "00010358" "50" "2707" "0" "2707" "0" "c.2707G>A" "r.(?)" "p.(Gly903Arg)" "" "0000278338" "00025348" "10" "-19239" "0" "-19239" "0" "c.-19239C>T" "r.(?)" "p.(=)" "" "0000278338" "00010358" "10" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Arg92=)" "" "0000278339" "00025348" "50" "-19237" "0" "-19237" "0" "c.-19237A>G" "r.(?)" "p.(=)" "" "0000278339" "00010358" "50" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(Lys93Arg)" "" "0000278340" "00025348" "10" "1884" "0" "1884" "0" "c.1884G>A" "r.(?)" "p.(Pro628=)" "" "0000278340" "00010358" "10" "2904" "0" "2904" "0" "c.2904G>A" "r.(?)" "p.(Pro968=)" "" "0000278341" "00025348" "70" "-19214" "0" "-19214" "0" "c.-19214A>C" "r.(?)" "p.(=)" "" "0000278341" "00010358" "70" "301" "0" "301" "0" "c.301A>C" "r.(?)" "p.(Lys101Gln)" "" "0000278342" "00025348" "90" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Ter)" "" "0000278342" "00010358" "90" "3040" "0" "3040" "0" "c.3040C>T" "r.(?)" "p.(Arg1014Ter)" "" "0000278343" "00025348" "50" "2032" "0" "2032" "0" "c.2032C>G" "r.(?)" "p.(Pro678Ala)" "" "0000278343" "00010358" "50" "3052" "0" "3052" "0" "c.3052C>G" "r.(?)" "p.(Pro1018Ala)" "" "0000278344" "00025348" "10" "2043" "0" "2043" "0" "c.2043C>T" "r.(?)" "p.(Ser681=)" "" "0000278344" "00010358" "10" "3063" "0" "3063" "0" "c.3063C>T" "r.(?)" "p.(Ser1021=)" "" "0000278345" "00025348" "10" "2120" "0" "2120" "0" "c.2120G>T" "r.(?)" "p.(Arg707Leu)" "" "0000278345" "00010358" "10" "3140" "0" "3140" "0" "c.3140G>T" "r.(?)" "p.(Arg1047Leu)" "" "0000278346" "00025348" "10" "2132" "12" "2132" "12" "c.2132+12C>A" "r.(=)" "p.(=)" "" "0000278346" "00010358" "10" "3152" "12" "3152" "12" "c.3152+12C>A" "r.(=)" "p.(=)" "" "0000278347" "00025348" "90" "-4220" "0" "-4219" "0" "c.-4220_-4219del" "r.(?)" "p.(=)" "" "0000278347" "00010358" "90" "321" "0" "322" "0" "c.321_322del" "r.(?)" "p.(Cys108SerfsTer36)" "" "0000278348" "00025348" "10" "2311" "-9" "2311" "-8" "c.2311-9_2311-8del" "r.(=)" "p.(=)" "" "0000278348" "00010358" "10" "3331" "-9" "3331" "-8" "c.3331-9_3331-8del" "r.(=)" "p.(=)" "" "0000278349" "00025348" "30" "2427" "0" "2427" "0" "c.2427C>G" "r.(?)" "p.(Pro809=)" "" "0000278349" "00010358" "30" "3447" "0" "3447" "0" "c.3447C>G" "r.(?)" "p.(Pro1149=)" "" "0000278350" "00025348" "30" "-4099" "0" "-4099" "0" "c.-4099C>T" "r.(?)" "p.(=)" "" "0000278350" "00010358" "30" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Trp)" "" "0000278351" "00025348" "10" "-3005" "0" "-3005" "0" "c.-3005C>T" "r.(?)" "p.(=)" "" "0000278351" "00010358" "10" "473" "-6" "473" "-6" "c.473-6C>T" "r.(=)" "p.(=)" "" "0000278352" "00025348" "10" "-22360" "0" "-22360" "0" "c.-22360C>G" "r.(?)" "p.(=)" "" "0000278352" "00010358" "10" "51" "0" "51" "0" "c.51C>G" "r.(?)" "p.(Thr17=)" "" "0000278353" "00025348" "50" "-2945" "0" "-2945" "0" "c.-2945G>A" "r.(?)" "p.(=)" "" "0000278353" "00010358" "50" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Arg176Gln)" "" "0000278354" "00025348" "10" "-2914" "0" "-2914" "0" "c.-2914C>T" "r.(?)" "p.(=)" "" "0000278354" "00010358" "10" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Gly186=)" "" "0000278355" "00025348" "50" "-2747" "0" "-2747" "0" "c.-2747G>A" "r.(?)" "p.(=)" "" "0000278355" "00010358" "50" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242His)" "" "0000278356" "00025348" "50" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Cys)" "" "0000278356" "00010358" "50" "1128" "1869" "1128" "1869" "c.1128+1869C>T" "r.(=)" "p.(=)" "" "0000281713" "00025348" "30" "312" "0" "312" "0" "c.312G>A" "r.(?)" "p.(Glu104=)" "" "0000281713" "00010358" "30" "1332" "0" "1332" "0" "c.1332G>A" "r.(?)" "p.(Glu444=)" "" "0000281714" "00025348" "10" "1670" "0" "1670" "0" "c.1670A>C" "r.(?)" "p.(Lys557Thr)" "" "0000281714" "00010358" "10" "2690" "0" "2690" "0" "c.2690A>C" "r.(?)" "p.(Lys897Thr)" "" "0000285501" "00025348" "30" "-1877" "0" "-1877" "0" "c.-1877C>T" "r.(?)" "p.(=)" "" "0000285501" "00010358" "30" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Pro347Ser)" "" "0000285502" "00025348" "30" "538" "-6" "538" "-6" "c.538-6C>T" "r.(=)" "p.(=)" "" "0000285502" "00010358" "30" "1558" "-6" "1558" "-6" "c.1558-6C>T" "r.(=)" "p.(=)" "" "0000285503" "00025348" "70" "828" "0" "828" "0" "c.828C>G" "r.(?)" "p.(Tyr276Ter)" "" "0000285503" "00010358" "70" "1848" "0" "1848" "0" "c.1848C>G" "r.(?)" "p.(Tyr616Ter)" "" "0000285504" "00025348" "30" "1881" "0" "1881" "0" "c.1881G>T" "r.(?)" "p.(Pro627=)" "" "0000285504" "00010358" "30" "2901" "0" "2901" "0" "c.2901G>T" "r.(?)" "p.(Pro967=)" "" "0000285505" "00025348" "30" "1921" "0" "1921" "0" "c.1921A>G" "r.(?)" "p.(Ser641Gly)" "" "0000285505" "00010358" "30" "2941" "0" "2941" "0" "c.2941A>G" "r.(?)" "p.(Ser981Gly)" "" "0000285506" "00025348" "30" "2120" "0" "2120" "0" "c.2120G>T" "r.(?)" "p.(Arg707Leu)" "" "0000285506" "00010358" "30" "3140" "0" "3140" "0" "c.3140G>T" "r.(?)" "p.(Arg1047Leu)" "" "0000285507" "00025348" "10" "2132" "12" "2132" "12" "c.2132+12C>A" "r.(=)" "p.(=)" "" "0000285507" "00010358" "10" "3152" "12" "3152" "12" "c.3152+12C>A" "r.(=)" "p.(=)" "" "0000285508" "00025348" "30" "2132" "7" "2132" "7" "c.2132+7G>A" "r.(=)" "p.(=)" "" "0000285508" "00010358" "30" "3152" "7" "3152" "7" "c.3152+7G>A" "r.(=)" "p.(=)" "" "0000285509" "00025348" "30" "-4099" "0" "-4099" "0" "c.-4099C>T" "r.(?)" "p.(=)" "" "0000285509" "00010358" "30" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Trp)" "" "0000285510" "00025348" "30" "-3005" "0" "-3005" "0" "c.-3005C>T" "r.(?)" "p.(=)" "" "0000285510" "00010358" "30" "473" "-6" "473" "-6" "c.473-6C>T" "r.(=)" "p.(=)" "" "0000285511" "00025348" "30" "-22360" "0" "-22360" "0" "c.-22360C>G" "r.(?)" "p.(=)" "" "0000285511" "00010358" "30" "51" "0" "51" "0" "c.51C>G" "r.(?)" "p.(Thr17=)" "" "0000285512" "00025348" "30" "-22323" "0" "-22323" "0" "c.-22323A>G" "r.(?)" "p.(=)" "" "0000285512" "00010358" "30" "76" "12" "76" "12" "c.76+12A>G" "r.(=)" "p.(=)" "" "0000290055" "00025348" "10" "672" "0" "672" "0" "c.672A>G" "r.(?)" "p.(Leu224=)" "" "0000290055" "00010358" "10" "1692" "0" "1692" "0" "c.1692A>G" "r.(?)" "p.(Leu564=)" "" "0000405535" "00010358" "50" "87" "0" "87" "0" "c.87C>A" "r.(?)" "p.(Phe29Leu)" "2" "0000439113" "00025348" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Arg25Trp)" "" "0000531197" "00025348" "50" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Leu787Phe)" "" "0000531197" "00010358" "50" "3379" "0" "3379" "0" "c.3379C>T" "r.(?)" "p.(Leu1127Phe)" "" "0000531199" "00025348" "50" "2209" "0" "2209" "0" "c.2209G>A" "r.(?)" "p.(Ala737Thr)" "" "0000531199" "00010358" "50" "3229" "0" "3229" "0" "c.3229G>A" "r.(?)" "p.(Ala1077Thr)" "" "0000531200" "00025348" "50" "2204" "0" "2204" "0" "c.2204C>T" "r.(?)" "p.(Pro735Leu)" "" "0000531200" "00010358" "50" "3224" "0" "3224" "0" "c.3224C>T" "r.(?)" "p.(Pro1075Leu)" "" "0000531201" "00025348" "10" "2132" "22" "2132" "22" "c.2132+22G>A" "r.(=)" "p.(=)" "" "0000531201" "00010358" "10" "3152" "22" "3152" "22" "c.3152+22G>A" "r.(=)" "p.(=)" "" "0000531203" "00025348" "30" "2120" "0" "2120" "0" "c.2120G>T" "r.(?)" "p.(Arg707Leu)" "" "0000531203" "00010358" "30" "3140" "0" "3140" "0" "c.3140G>T" "r.(?)" "p.(Arg1047Leu)" "" "0000531204" "00025348" "30" "2055" "0" "2055" "0" "c.2055C>T" "r.(?)" "p.(Ile685=)" "" "0000531204" "00010358" "30" "3075" "0" "3075" "0" "c.3075C>T" "r.(?)" "p.(Ile1025=)" "" "0000531205" "00025348" "10" "2028" "0" "2028" "0" "c.2028C>T" "r.(?)" "p.(Pro676=)" "" "0000531205" "00010358" "10" "3048" "0" "3048" "0" "c.3048C>T" "r.(?)" "p.(Pro1016=)" "" "0000531206" "00025348" "70" "1946" "-3" "1946" "-3" "c.1946-3C>G" "r.spl?" "p.?" "" "0000531206" "00010358" "70" "2966" "-3" "2966" "-3" "c.2966-3C>G" "r.spl?" "p.?" "" "0000531207" "00025348" "10" "1945" "14" "1945" "14" "c.1945+14C>T" "r.(=)" "p.(=)" "" "0000531207" "00010358" "10" "2965" "14" "2965" "14" "c.2965+14C>T" "r.(=)" "p.(=)" "" "0000531208" "00025348" "30" "1945" "14" "1945" "14" "c.1945+14C>T" "r.(=)" "p.(=)" "" "0000531208" "00010358" "30" "2965" "14" "2965" "14" "c.2965+14C>T" "r.(=)" "p.(=)" "" "0000531210" "00025348" "30" "1923" "0" "1923" "0" "c.1923C>T" "r.(?)" "p.(Ser641=)" "" "0000531210" "00010358" "30" "2943" "0" "2943" "0" "c.2943C>T" "r.(?)" "p.(Ser981=)" "" "0000531211" "00025348" "30" "1921" "0" "1921" "0" "c.1921A>G" "r.(?)" "p.(Ser641Gly)" "" "0000531211" "00010358" "30" "2941" "0" "2941" "0" "c.2941A>G" "r.(?)" "p.(Ser981Gly)" "" "0000531212" "00025348" "30" "1880" "0" "1880" "0" "c.1880C>T" "r.(?)" "p.(Pro627Leu)" "" "0000531212" "00010358" "30" "2900" "0" "2900" "0" "c.2900C>T" "r.(?)" "p.(Pro967Leu)" "" "0000531215" "00025348" "30" "1758" "0" "1758" "0" "c.1758G>A" "r.(?)" "p.(Pro586=)" "" "0000531215" "00010358" "30" "2778" "0" "2778" "0" "c.2778G>A" "r.(?)" "p.(Pro926=)" "" "0000531216" "00025348" "90" "1709" "0" "1724" "0" "c.1709_1724dup" "r.(?)" "p.(Ser578GlyfsTer7)" "" "0000531216" "00010358" "90" "2729" "0" "2744" "0" "c.2729_2744dup" "r.(?)" "p.(Ser918GlyfsTer7)" "" "0000531217" "00025348" "30" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Ala573Val)" "" "0000531217" "00010358" "30" "2738" "0" "2738" "0" "c.2738C>T" "r.(?)" "p.(Ala913Val)" "" "0000531218" "00025348" "50" "1697" "0" "1697" "0" "c.1697C>T" "r.(?)" "p.(Ser566Leu)" "" "0000531218" "00010358" "50" "2717" "0" "2717" "0" "c.2717C>T" "r.(?)" "p.(Ser906Leu)" "" "0000531219" "00025348" "70" "1672" "1" "1672" "1" "c.1672+1G>T" "r.spl?" "p.?" "" "0000531219" "00010358" "70" "2692" "1" "2692" "1" "c.2692+1G>T" "r.spl?" "p.?" "" "0000531220" "00025348" "10" "1670" "0" "1670" "0" "c.1670A>C" "r.(?)" "p.(Lys557Thr)" "" "0000531220" "00010358" "10" "2690" "0" "2690" "0" "c.2690A>C" "r.(?)" "p.(Lys897Thr)" "" "0000531221" "00025348" "30" "1665" "0" "1665" "0" "c.1665G>T" "r.(?)" "p.(Thr555=)" "" "0000531221" "00010358" "30" "2685" "0" "2685" "0" "c.2685G>T" "r.(?)" "p.(Thr895=)" "" "0000531222" "00025348" "50" "1659" "0" "1661" "0" "c.1659_1661dup" "r.(?)" "p.(Arg554dup)" "" "0000531222" "00010358" "50" "2679" "0" "2681" "0" "c.2679_2681dup" "r.(?)" "p.(Arg894dup)" "" "0000531223" "00025348" "10" "1573" "-51" "1573" "-51" "c.1573-51C>T" "r.(=)" "p.(=)" "" "0000531223" "00010358" "10" "2593" "-51" "2593" "-51" "c.2593-51C>T" "r.(=)" "p.(=)" "" "0000531224" "00025348" "30" "1572" "35" "1572" "35" "c.1572+35C>T" "r.(=)" "p.(=)" "" "0000531224" "00010358" "30" "2592" "35" "2592" "35" "c.2592+35C>T" "r.(=)" "p.(=)" "" "0000531225" "00025348" "90" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Ser478Leu)" "" "0000531225" "00010358" "90" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Ser818Leu)" "" "0000531226" "00025348" "30" "1379" "-6" "1379" "-6" "c.1379-6C>T" "r.(=)" "p.(=)" "" "0000531226" "00010358" "30" "2399" "-6" "2399" "-6" "c.2399-6C>T" "r.(=)" "p.(=)" "" "0000531227" "00025348" "30" "1379" "-21" "1379" "-21" "c.1379-21T>A" "r.(=)" "p.(=)" "" "0000531227" "00010358" "30" "2399" "-21" "2399" "-21" "c.2399-21T>A" "r.(=)" "p.(=)" "" "0000531228" "00025348" "30" "1378" "155" "1378" "155" "c.1378+155C>A" "r.(=)" "p.(=)" "" "0000531228" "00010358" "30" "2398" "155" "2398" "155" "c.2398+155C>A" "r.(=)" "p.(=)" "" "0000531230" "00025348" "30" "1356" "0" "1356" "0" "c.1356C>T" "r.(?)" "p.(Gly452=)" "" "0000531230" "00010358" "30" "2376" "0" "2376" "0" "c.2376C>T" "r.(?)" "p.(Gly792=)" "" "0000531232" "00025348" "10" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Ile447=)" "" "0000531232" "00010358" "10" "2361" "0" "2361" "0" "c.2361C>T" "r.(?)" "p.(Ile787=)" "" "0000531233" "00025348" "30" "1263" "0" "1263" "0" "c.1263A>G" "r.(?)" "p.(Thr421=)" "" "0000531233" "00010358" "30" "2283" "0" "2283" "0" "c.2283A>G" "r.(?)" "p.(Thr761=)" "" "0000531235" "00025348" "10" "1126" "-61" "1126" "-61" "c.1126-61A>G" "r.(=)" "p.(=)" "" "0000531235" "00010358" "10" "2146" "-61" "2146" "-61" "c.2146-61A>G" "r.(=)" "p.(=)" "" "0000531236" "00025348" "10" "1125" "40" "1125" "40" "c.1125+40G>A" "r.(=)" "p.(=)" "" "0000531236" "00010358" "10" "2145" "40" "2145" "40" "c.2145+40G>A" "r.(=)" "p.(=)" "" "0000531237" "00025348" "10" "1125" "39" "1125" "39" "c.1125+39G>C" "r.(=)" "p.(=)" "" "0000531237" "00010358" "10" "2145" "39" "2145" "39" "c.2145+39G>C" "r.(=)" "p.(=)" "" "0000531238" "00025348" "50" "1107" "0" "1107" "0" "c.1107C>A" "r.(?)" "p.(Asn369Lys)" "" "0000531238" "00010358" "50" "2127" "0" "2127" "0" "c.2127C>A" "r.(?)" "p.(Asn709Lys)" "" "0000531239" "00025348" "70" "1061" "0" "1061" "0" "c.1061G>A" "r.(?)" "p.(Arg354His)" "" "0000531239" "00010358" "70" "2081" "0" "2081" "0" "c.2081G>A" "r.(?)" "p.(Arg694His)" "" "0000531240" "00025348" "10" "936" "0" "936" "0" "c.936T>C" "r.(?)" "p.(Tyr312=)" "" "0000531240" "00010358" "10" "1956" "0" "1956" "0" "c.1956T>C" "r.(?)" "p.(Tyr652=)" "" "0000531241" "00025348" "10" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Gly263=)" "" "0000531241" "00010358" "10" "1809" "0" "1809" "0" "c.1809C>T" "r.(?)" "p.(Gly603=)" "" "0000531242" "00025348" "10" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Gly250=)" "" "0000531242" "00010358" "10" "1770" "0" "1770" "0" "c.1770C>T" "r.(?)" "p.(Gly590=)" "" "0000531243" "00025348" "70" "733" "0" "733" "0" "c.733T>C" "r.(?)" "p.(Trp245Arg)" "" "0000531243" "00010358" "70" "1753" "0" "1753" "0" "c.1753T>C" "r.(?)" "p.(Trp585Arg)" "" "0000531244" "00025348" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "" "0000531244" "00010358" "90" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Cys)" "" "0000531245" "00025348" "30" "693" "0" "693" "0" "c.693C>T" "r.(?)" "p.(Ile231=)" "" "0000531245" "00010358" "30" "1713" "0" "1713" "0" "c.1713C>T" "r.(?)" "p.(Ile571=)" "" "0000531248" "00025348" "10" "672" "0" "672" "0" "c.672A>G" "r.(?)" "p.(Leu224=)" "" "0000531248" "00010358" "10" "1692" "0" "1692" "0" "c.1692A>G" "r.(?)" "p.(Leu564=)" "" "0000531249" "00025348" "10" "648" "0" "648" "0" "c.648C>T" "r.(?)" "p.(Thr216=)" "" "0000531249" "00010358" "10" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(Thr556=)" "" "0000531250" "00025348" "30" "588" "0" "588" "0" "c.588G>A" "r.(?)" "p.(Ala196=)" "" "0000531250" "00010358" "30" "1608" "0" "1608" "0" "c.1608G>A" "r.(?)" "p.(Ala536=)" "" "0000531251" "00025348" "90" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Cys)" "" "0000531251" "00010358" "90" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Cys)" "" "0000531253" "00025348" "10" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.(Ile181=)" "" "0000531253" "00010358" "10" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Ile521=)" "" "0000531254" "00025348" "30" "538" "-6" "538" "-6" "c.538-6C>T" "r.(=)" "p.(=)" "" "0000531254" "00010358" "30" "1558" "-6" "1558" "-6" "c.1558-6C>T" "r.(=)" "p.(=)" "" "0000531255" "00025348" "10" "538" "-63" "538" "-63" "c.538-63C>G" "r.(=)" "p.(=)" "" "0000531255" "00010358" "10" "1558" "-63" "1558" "-63" "c.1558-63C>G" "r.(=)" "p.(=)" "" "0000531256" "00025348" "10" "519" "0" "519" "0" "c.519C>T" "r.(?)" "p.(Phe173=)" "" "0000531256" "00010358" "10" "1539" "0" "1539" "0" "c.1539C>T" "r.(?)" "p.(Phe513=)" "" "0000531257" "00025348" "10" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Leu170=)" "" "0000531257" "00010358" "10" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Leu510=)" "" "0000531258" "00025348" "10" "447" "0" "447" "0" "c.447C>T" "r.(?)" "p.(Ile149=)" "" "0000531258" "00010358" "10" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Ile489=)" "" "0000531259" "00025348" "30" "321" "0" "321" "0" "c.321C>T" "r.(?)" "p.(Tyr107=)" "" "0000531259" "00010358" "30" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Tyr447=)" "" "0000531261" "00025348" "30" "109" "-18" "109" "-18" "c.109-18C>T" "r.(=)" "p.(=)" "" "0000531261" "00010358" "30" "1129" "-18" "1129" "-18" "c.1129-18C>T" "r.(=)" "p.(=)" "" "0000531262" "00025348" "30" "109" "-18" "109" "-18" "c.109-18C>T" "r.(=)" "p.(=)" "" "0000531262" "00010358" "30" "1129" "-18" "1129" "-18" "c.1129-18C>T" "r.(=)" "p.(=)" "" "0000531263" "00025348" "30" "108" "37" "108" "38" "c.108+37_108+38del" "r.(=)" "p.(=)" "" "0000531263" "00010358" "30" "1128" "1932" "1128" "1933" "c.1128+1932_1128+1933del" "r.(=)" "p.(=)" "" "0000531264" "00025348" "10" "78" "0" "78" "0" "c.78C>T" "r.(?)" "p.(Ala26=)" "" "0000531264" "00010358" "10" "1128" "1865" "1128" "1865" "c.1128+1865C>T" "r.(=)" "p.(=)" "" "0000531265" "00025348" "30" "78" "0" "78" "0" "c.78C>T" "r.(?)" "p.(Ala26=)" "" "0000531265" "00010358" "30" "1128" "1865" "1128" "1865" "c.1128+1865C>T" "r.(=)" "p.(=)" "" "0000531266" "00025348" "30" "78" "0" "78" "0" "c.78C>T" "r.(?)" "p.(Ala26=)" "" "0000531266" "00010358" "30" "1128" "1865" "1128" "1865" "c.1128+1865C>T" "r.(=)" "p.(=)" "" "0000531267" "00025348" "30" "24" "0" "24" "0" "c.24G>A" "r.(?)" "p.(Ala8=)" "" "0000531267" "00010358" "30" "1128" "1811" "1128" "1811" "c.1128+1811G>A" "r.(=)" "p.(=)" "" "0000531268" "00025348" "10" "-4" "0" "-4" "0" "c.-4C>T" "r.(?)" "p.(=)" "" "0000531268" "00010358" "10" "1128" "1784" "1128" "1784" "c.1128+1784C>T" "r.(=)" "p.(=)" "" "0000531269" "00025348" "10" "-1775" "0" "-1775" "0" "c.-1775C>T" "r.(?)" "p.(=)" "" "0000531269" "00010358" "10" "1128" "13" "1128" "13" "c.1128+13C>T" "r.(=)" "p.(=)" "" "0000531270" "00025348" "30" "-1877" "0" "-1877" "0" "c.-1877C>T" "r.(?)" "p.(=)" "" "0000531270" "00010358" "30" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Pro347Ser)" "" "0000531273" "00025348" "50" "-2607" "0" "-2607" "0" "c.-2607G>A" "r.(?)" "p.(=)" "" "0000531273" "00010358" "50" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Glu289Lys)" "" "0000531274" "00025348" "90" "-2622" "0" "-2607" "0" "c.-2622_-2607del" "r.(?)" "p.(=)" "" "0000531274" "00010358" "90" "850" "0" "865" "0" "c.850_865del" "r.(?)" "p.(Ser284ArgfsTer71)" "" "0000531275" "00025348" "30" "-2659" "0" "-2659" "0" "c.-2659C>A" "r.(?)" "p.(=)" "" "0000531275" "00010358" "30" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Arg271=)" "" "0000531277" "00025348" "30" "-2800" "0" "-2800" "0" "c.-2800G>C" "r.(?)" "p.(=)" "" "0000531277" "00010358" "30" "672" "0" "672" "0" "c.672G>C" "r.(?)" "p.(Gly224=)" "" "0000531278" "00025348" "50" "-2946" "0" "-2946" "0" "c.-2946C>T" "r.(?)" "p.(=)" "" "0000531278" "00010358" "50" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "" "0000531279" "00025348" "50" "-2946" "0" "-2946" "0" "c.-2946C>T" "r.(?)" "p.(=)" "" "0000531279" "00010358" "50" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "" "0000531280" "00025348" "30" "-3005" "0" "-3005" "0" "c.-3005C>T" "r.(?)" "p.(=)" "" "0000531280" "00010358" "30" "473" "-6" "473" "-6" "c.473-6C>T" "r.(=)" "p.(=)" "" "0000531281" "00025348" "30" "-3006" "0" "-3006" "0" "c.-3006C>A" "r.(?)" "p.(=)" "" "0000531281" "00010358" "30" "473" "-7" "473" "-7" "c.473-7C>A" "r.(=)" "p.(=)" "" "0000531282" "00025348" "10" "-3033" "0" "-3033" "0" "c.-3033A>G" "r.(?)" "p.(=)" "" "0000531282" "00010358" "10" "473" "-34" "473" "-34" "c.473-34A>G" "r.(=)" "p.(=)" "" "0000531283" "00025348" "10" "-3052" "0" "-3052" "0" "c.-3052C>T" "r.(?)" "p.(=)" "" "0000531283" "00010358" "10" "473" "-53" "473" "-53" "c.473-53C>T" "r.(=)" "p.(=)" "" "0000531285" "00025348" "30" "-19215" "0" "-19215" "0" "c.-19215G>T" "r.(?)" "p.(=)" "" "0000531285" "00010358" "30" "300" "0" "300" "0" "c.300G>T" "r.(?)" "p.(Arg100=)" "" "0000531289" "00025348" "10" "-19443" "0" "-19443" "0" "c.-19443C>G" "r.(?)" "p.(=)" "" "0000531289" "00010358" "10" "77" "-5" "77" "-5" "c.77-5C>G" "r.spl?" "p.?" "" "0000531290" "00025348" "30" "-19443" "0" "-19443" "0" "c.-19443C>G" "r.(?)" "p.(=)" "" "0000531290" "00010358" "30" "77" "-5" "77" "-5" "c.77-5C>G" "r.spl?" "p.?" "" "0000531291" "00025348" "30" "-22360" "0" "-22360" "0" "c.-22360C>G" "r.(?)" "p.(=)" "" "0000531291" "00010358" "30" "51" "0" "51" "0" "c.51C>G" "r.(?)" "p.(Thr17=)" "" "0000594762" "00010358" "70" "2681" "0" "2682" "0" "c.2681_2682del" "r.(?)" "p.(Arg894Hisfs*25)" "" "0000594764" "00010358" "90" "453" "0" "453" "0" "c.453del" "r.(?)" "p.(Thr152Profs*14)" "" "0000610911" "00025348" "30" "2416" "0" "2416" "0" "c.2416A>T" "r.(?)" "p.(Thr806Ser)" "" "0000610911" "00010358" "30" "3436" "0" "3436" "0" "c.3436A>T" "r.(?)" "p.(Thr1146Ser)" "" "0000610912" "00025348" "30" "2144" "0" "2144" "0" "c.2144G>A" "r.(?)" "p.(Arg715Gln)" "" "0000610912" "00010358" "30" "3164" "0" "3164" "0" "c.3164G>A" "r.(?)" "p.(Arg1055Gln)" "" "0000610913" "00025348" "30" "2132" "12" "2132" "12" "c.2132+12C>A" "r.(=)" "p.(=)" "" "0000610913" "00010358" "30" "3152" "12" "3152" "12" "c.3152+12C>A" "r.(=)" "p.(=)" "" "0000610914" "00025348" "30" "2087" "0" "2087" "0" "c.2087G>A" "r.(?)" "p.(Gly696Asp)" "" "0000610914" "00010358" "30" "3107" "0" "3107" "0" "c.3107G>A" "r.(?)" "p.(Gly1036Asp)" "" "0000610915" "00025348" "50" "2087" "0" "2087" "0" "c.2087G>A" "r.(?)" "p.(Gly696Asp)" "" "0000610915" "00010358" "50" "3107" "0" "3107" "0" "c.3107G>A" "r.(?)" "p.(Gly1036Asp)" "" "0000610916" "00025348" "30" "2043" "0" "2043" "0" "c.2043C>T" "r.(?)" "p.(Ser681=)" "" "0000610916" "00010358" "30" "3063" "0" "3063" "0" "c.3063C>T" "r.(?)" "p.(Ser1021=)" "" "0000610917" "00025348" "30" "2032" "0" "2032" "0" "c.2032C>G" "r.(?)" "p.(Pro678Ala)" "" "0000610917" "00010358" "30" "3052" "0" "3052" "0" "c.3052C>G" "r.(?)" "p.(Pro1018Ala)" "" "0000610920" "00025348" "30" "1378" "25" "1378" "25" "c.1378+25G>T" "r.(=)" "p.(=)" "" "0000610920" "00010358" "30" "2398" "25" "2398" "25" "c.2398+25G>T" "r.(=)" "p.(=)" "" "0000610922" "00025348" "30" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(Asn289=)" "" "0000610922" "00010358" "30" "1887" "0" "1887" "0" "c.1887C>T" "r.(?)" "p.(Asn629=)" "" "0000610927" "00025348" "10" "333" "0" "333" "0" "c.333G>A" "r.(?)" "p.(Pro111=)" "" "0000610927" "00010358" "10" "1353" "0" "1353" "0" "c.1353G>A" "r.(?)" "p.(Pro451=)" "" "0000610928" "00025348" "10" "300" "0" "300" "0" "c.300G>T" "r.(?)" "p.(Pro100=)" "" "0000610928" "00010358" "10" "1320" "0" "1320" "0" "c.1320G>T" "r.(?)" "p.(Pro440=)" "" "0000610929" "00025348" "30" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Pro100Leu)" "" "0000610929" "00010358" "30" "1319" "0" "1319" "0" "c.1319C>T" "r.(?)" "p.(Pro440Leu)" "" "0000610931" "00025348" "30" "109" "-9" "109" "-9" "c.109-9C>T" "r.(=)" "p.(=)" "" "0000610931" "00010358" "30" "1129" "-9" "1129" "-9" "c.1129-9C>T" "r.(=)" "p.(=)" "" "0000610932" "00025348" "10" "-2032" "0" "-2032" "0" "c.-2032dup" "r.(?)" "p.(=)" "" "0000610932" "00010358" "10" "917" "-33" "917" "-33" "c.917-33dup" "r.(=)" "p.(=)" "" "0000610933" "00025348" "30" "-2512" "0" "-2510" "0" "c.-2512_-2510del" "r.(?)" "p.(=)" "" "0000610933" "00010358" "30" "916" "44" "916" "46" "c.916+44_916+46del" "r.(=)" "p.(=)" "" "0000610934" "00025348" "30" "-2530" "0" "-2530" "0" "c.-2530G>T" "r.(?)" "p.(=)" "" "0000610934" "00010358" "30" "916" "26" "916" "26" "c.916+26G>T" "r.(=)" "p.(=)" "" "0000610935" "00025348" "50" "-2583" "0" "-2583" "0" "c.-2583C>T" "r.(?)" "p.(=)" "" "0000610935" "00010358" "50" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Pro297Ser)" "" "0000610938" "00025348" "50" "-2802" "0" "-2802" "0" "c.-2802G>C" "r.(?)" "p.(=)" "" "0000610938" "00010358" "50" "670" "0" "670" "0" "c.670G>C" "r.(?)" "p.(Gly224Arg)" "" "0000610940" "00025348" "30" "-4089" "0" "-4089" "0" "c.-4089C>T" "r.(?)" "p.(=)" "" "0000610940" "00010358" "30" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Pro151Leu)" "" "0000610941" "00025348" "30" "-4099" "0" "-4099" "0" "c.-4099C>T" "r.(?)" "p.(=)" "" "0000610941" "00010358" "30" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Trp)" "" "0000610942" "00025348" "30" "-4190" "0" "-4190" "0" "c.-4190C>T" "r.(?)" "p.(=)" "" "0000610942" "00010358" "30" "351" "0" "351" "0" "c.351C>T" "r.(?)" "p.(Asn117=)" "" "0000610943" "00025348" "30" "-19215" "0" "-19215" "0" "c.-19215G>T" "r.(?)" "p.(=)" "" "0000610943" "00010358" "30" "300" "0" "300" "0" "c.300G>T" "r.(?)" "p.(Arg100=)" "" "0000610944" "00025348" "30" "-19239" "0" "-19239" "0" "c.-19239C>T" "r.(?)" "p.(=)" "" "0000610944" "00010358" "30" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Arg92=)" "" "0000610946" "00025348" "30" "-22422" "0" "-22421" "0" "c.-22422_-22421insGGCCGGCCC" "r.(?)" "p.(=)" "" "0000610946" "00010358" "30" "-12" "0" "-11" "0" "c.-12_-11insGGCCGGCCC" "r.(?)" "p.(=)" "" "0000610947" "00025348" "30" "-22453" "0" "-22449" "0" "c.-22453_-22449dup" "r.(?)" "p.(=)" "" "0000610947" "00010358" "30" "-43" "0" "-39" "0" "c.-43_-39dup" "r.(?)" "p.(=)" "" "0000621846" "00025348" "30" "1710" "0" "1710" "0" "c.1710G>A" "r.(?)" "p.(Pro570=)" "" "0000621846" "00010358" "30" "2730" "0" "2730" "0" "c.2730G>A" "r.(?)" "p.(Pro910=)" "" "0000621847" "00025348" "70" "1379" "-1" "1381" "0" "c.1379-1_1381del" "r.spl?" "p.?" "" "0000621847" "00010358" "70" "2399" "-1" "2401" "0" "c.2399-1_2401del" "r.spl?" "p.?" "" "0000621848" "00025348" "50" "1026" "0" "1026" "0" "c.1026G>C" "r.(?)" "p.(Glu342Asp)" "" "0000621848" "00010358" "50" "2046" "0" "2046" "0" "c.2046G>C" "r.(?)" "p.(Glu682Asp)" "" "0000621849" "00025348" "50" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Ser259Asn)" "" "0000621849" "00010358" "50" "1796" "0" "1796" "0" "c.1796G>A" "r.(?)" "p.(Ser599Asn)" "" "0000621850" "00025348" "70" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Ser)" "" "0000621850" "00010358" "70" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Gly590Ser)" "" "0000621851" "00025348" "30" "78" "0" "78" "0" "c.78C>T" "r.(?)" "p.(Ala26=)" "" "0000621851" "00010358" "30" "1128" "1865" "1128" "1865" "c.1128+1865C>T" "r.(=)" "p.(=)" "" "0000621852" "00025348" "50" "-2905" "0" "-2897" "0" "c.-2905_-2897dup" "r.(?)" "p.(=)" "" "0000621852" "00010358" "50" "567" "0" "575" "0" "c.567_575dup" "r.(?)" "p.(Pro191_Ala193dup)" "" "0000624936" "00010358" "50" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164His)" "" "0000624937" "00010358" "50" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "" "0000624939" "00010358" "30" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Pro141Leu)" "" "0000624940" "00010358" "50" "59" "0" "59" "0" "c.59G>T" "r.(?)" "p.(Arg20Leu)" "" "0000624941" "00010358" "90" "2246" "0" "2246" "0" "c.2246G>T" "r.(?)" "p.(Gly749Val)" "" "0000625581" "00010358" "50" "2653" "0" "2653" "0" "c.2653C>T" "r.(?)" "p.(Arg885Cys)" "" "0000625582" "00010358" "30" "2944" "0" "2944" "0" "c.2944G>A" "r.(?)" "p.(Asp982Asn)" "" "0000625583" "00010358" "30" "3020" "0" "3020" "0" "c.3020G>A" "r.(?)" "p.(Arg1007His)" "" "0000626412" "00010358" "90" "453" "0" "453" "0" "c.453dup" "r.(?)" "p.(Thr152Hisfs*180)" "" "0000626413" "00010358" "50" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Pro347Ser)" "" "0000626441" "00010358" "50" "992" "0" "992" "0" "c.992G>T" "r.(?)" "p.(Ser331Ile)" "" "0000626442" "00010358" "50" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Trp)" "" "0000626443" "00010358" "50" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "" "0000626445" "00010358" "50" "2660" "0" "2660" "0" "c.2660G>C" "r.(?)" "p.(Arg887Pro)" "" "0000626446" "00010358" "50" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Pro347Ser)" "" "0000626447" "00010358" "50" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "" "0000626448" "00010358" "50" "2738" "0" "2738" "0" "c.2738C>T" "r.(?)" "p.(Ala913Val)" "" "0000626449" "00010358" "50" "2707" "0" "2707" "0" "c.2707G>A" "r.(?)" "p.(Gly903Arg)" "" "0000626450" "00010358" "50" "2371" "0" "2371" "0" "c.2371C>T" "r.(?)" "p.(Arg791Trp)" "" "0000626451" "00010358" "50" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Cys)" "" "0000626452" "00010358" "50" "3457" "0" "3457" "0" "c.3457C>T" "r.(?)" "p.(His1153Tyr)" "" "0000626453" "00010358" "50" "2771" "0" "2771" "0" "c.2771G>C" "r.(?)" "p.(Gly924Ala)" "" "0000626454" "00010358" "50" "2257" "0" "2257" "0" "c.2257G>T" "r.(?)" "p.(Ala753Ser)" "" "0000626455" "00010358" "50" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Cys)" "" "0000626479" "00010358" "50" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "" "0000626480" "00010358" "50" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Pro347Ser)" "" "0000626495" "00010358" "50" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Glu289Lys)" "" "0000626499" "00010358" "70" "2775" "0" "2775" "0" "c.2775dup" "r.(?)" "p.(Pro926AlafsTer14)" "" "0000644175" "00010358" "50" "1307" "0" "1307" "0" "c.1307C>T" "r.(?)" "p.(Thr436Met)" "" "0000652209" "00025348" "50" "2450" "0" "2450" "0" "c.2450C>T" "r.(?)" "p.(Pro817Leu)" "" "0000652209" "00010358" "50" "3470" "0" "3470" "0" "c.3470C>T" "r.(?)" "p.(Pro1157Leu)" "" "0000652210" "00025348" "50" "2087" "0" "2087" "0" "c.2087G>A" "r.(?)" "p.(Gly696Asp)" "" "0000652210" "00010358" "50" "3107" "0" "3107" "0" "c.3107G>A" "r.(?)" "p.(Gly1036Asp)" "" "0000652211" "00025348" "90" "2074" "0" "2074" "0" "c.2074del" "r.(?)" "p.(Arg692Glyfs*25)" "" "0000652211" "00010358" "90" "3094" "0" "3094" "0" "c.3094del" "r.(?)" "p.(Arg1032Glyfs*25)" "" "0000652212" "00025348" "50" "1867" "0" "1867" "0" "c.1867C>A" "r.(?)" "p.(Pro623Thr)" "" "0000652212" "00010358" "50" "2887" "0" "2887" "0" "c.2887C>A" "r.(?)" "p.(Pro963Thr)" "" "0000652213" "00025348" "50" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608His)" "" "0000652213" "00010358" "50" "2843" "0" "2843" "0" "c.2843G>A" "r.(?)" "p.(Arg948His)" "" "0000652214" "00025348" "50" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Arg552Cys)" "" "0000652214" "00010358" "50" "2674" "0" "2674" "0" "c.2674C>T" "r.(?)" "p.(Arg892Cys)" "" "0000652215" "00025348" "50" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Asp169Asn)" "" "0000652215" "00010358" "50" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Asp509Asn)" "" "0000652216" "00025348" "90" "244" "0" "244" "0" "c.244G>A" "r.(?)" "p.(Ala82Thr)" "" "0000652216" "00010358" "90" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Ala422Thr)" "" "0000652217" "00025348" "90" "122" "0" "122" "0" "c.122del" "r.(?)" "p.(Gly41Alafs*53)" "" "0000652217" "00010358" "90" "1142" "0" "1142" "0" "c.1142del" "r.(?)" "p.(Gly381Alafs*53)" "" "0000652218" "00025348" "70" "109" "-1" "109" "-1" "c.109-1G>A" "r.spl?" "p.?" "" "0000652218" "00010358" "70" "1129" "-1" "1129" "-1" "c.1129-1G>A" "r.spl?" "p.?" "" "0000652219" "00025348" "90" "109" "-2" "109" "-2" "c.109-2A>G" "r.spl?" "p.?" "" "0000652219" "00010358" "90" "1129" "-2" "1129" "-2" "c.1129-2A>G" "r.spl?" "p.?" "" "0000652220" "00025348" "50" "-1934" "0" "-1934" "0" "c.-1934C>T" "r.(=)" "p.(=)" "" "0000652220" "00010358" "50" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328Cys)" "" "0000652221" "00025348" "50" "-2607" "0" "-2607" "0" "c.-2607G>A" "r.(=)" "p.(=)" "" "0000652221" "00010358" "50" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Glu289Lys)" "" "0000652222" "00010358" "90" "826" "0" "826" "0" "c.826del" "r.(?)" "p.(Cys276Alafs*84)" "" "0000652223" "00025348" "50" "-2946" "0" "-2946" "0" "c.-2946C>T" "r.(=)" "p.(=)" "" "0000652223" "00010358" "50" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "" "0000652224" "00025348" "50" "-2981" "0" "-2981" "0" "c.-2981G>A" "" "p.(=)" "" "0000652224" "00010358" "50" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164His)" "" "0000652225" "00025348" "50" "-4119" "0" "-4119" "0" "c.-4119C>T" "r.(=)" "p.(=)" "" "0000652225" "00010358" "50" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Pro141Leu)" "" "0000652226" "00010358" "50" "44" "0" "44" "0" "c.44T>A" "r.(?)" "p.(Leu15Gln)" "" "0000653074" "00025348" "30" "861" "0" "861" "0" "c.861C>T" "r.(=)" "p.(=)" "" "0000653074" "00010358" "30" "1881" "0" "1881" "0" "c.1881C>T" "r.(=)" "p.(=)" "" "0000653075" "00025348" "50" "684" "0" "684" "0" "c.684G>T" "r.(?)" "p.(Trp228Cys)" "" "0000653075" "00010358" "50" "1704" "0" "1704" "0" "c.1704G>T" "r.(?)" "p.(Trp568Cys)" "" "0000653076" "00010358" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Leu)" "" "0000653176" "00025348" "50" "1750" "0" "1750" "0" "c.1750G>A" "r.(?)" "p.(Gly584Arg)" "" "0000653176" "00010358" "50" "2770" "0" "2770" "0" "c.2770G>A" "r.(?)" "p.(Gly924Arg)" "" "0000653177" "00025348" "70" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Gly261Ser)" "" "0000653177" "00010358" "70" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "" "0000653178" "00025348" "50" "580" "0" "580" "0" "c.580C>A" "r.(?)" "p.(Arg194Ser)" "" "0000653178" "00010358" "50" "1600" "0" "1600" "0" "c.1600C>A" "r.(?)" "p.(Arg534Ser)" "" "0000653227" "00010358" "50" "82" "0" "82" "0" "c.82A>G" "r.(?)" "p.(Lys28Glu)" "" "0000653332" "00025348" "90" "-2663" "0" "-2663" "0" "c.-2663delinsAAAAGC" "r.(=)" "p.(=)" "" "0000653332" "00010358" "90" "808" "0" "809" "0" "c.808_809insAAAAG" "r.(?)" "p.(Thr270Lysfs*92)" "" "0000655778" "00025348" "10" "1962" "0" "1962" "0" "c.1962G>C" "r.(?)" "p.(Val654=)" "" "0000655778" "00010358" "10" "2982" "0" "2982" "0" "c.2982G>C" "r.(?)" "p.(Val994=)" "" "0000655779" "00025348" "30" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Gly533Ser)" "" "0000655779" "00010358" "30" "2617" "0" "2617" "0" "c.2617G>A" "r.(?)" "p.(Gly873Ser)" "" "0000655780" "00025348" "30" "1587" "0" "1587" "0" "c.1587G>A" "r.(?)" "p.(Pro529=)" "" "0000655780" "00010358" "30" "2607" "0" "2607" "0" "c.2607G>A" "r.(?)" "p.(Pro869=)" "" "0000655781" "00025348" "10" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.(Ile181=)" "" "0000655781" "00010358" "10" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Ile521=)" "" "0000669953" "00025348" "50" "-2946" "0" "-2946" "0" "c.-2946C>T" "r.(=)" "p.(=)" "" "0000669953" "00010358" "50" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "" "0000670157" "00025348" "50" "1750" "0" "1750" "0" "c.1750G>A" "r.(?)" "p.(Gly584Arg)" "" "0000670157" "00010358" "50" "2770" "0" "2770" "0" "c.2770G>A" "r.(?)" "p.(Gly924Arg)" "" "0000678019" "00025348" "30" "2416" "0" "2416" "0" "c.2416A>T" "r.(?)" "p.(Thr806Ser)" "" "0000678019" "00010358" "30" "3436" "0" "3436" "0" "c.3436A>T" "r.(?)" "p.(Thr1146Ser)" "" "0000678020" "00025348" "10" "2310" "19" "2310" "19" "c.2310+19dup" "r.(=)" "p.(=)" "" "0000678020" "00010358" "10" "3330" "19" "3330" "19" "c.3330+19dup" "r.(=)" "p.(=)" "" "0000678021" "00025348" "90" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Arg483Trp)" "" "0000678021" "00010358" "90" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Arg823Trp)" "" "0000678022" "00025348" "30" "1378" "15" "1378" "15" "c.1378+15del" "r.(=)" "p.(=)" "" "0000678022" "00010358" "30" "2398" "15" "2398" "15" "c.2398+15del" "r.(=)" "p.(=)" "" "0000678023" "00025348" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "" "0000678023" "00010358" "90" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Cys)" "" "0000678025" "00025348" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Tyr205=)" "" "0000678025" "00010358" "30" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Tyr545=)" "" "0000678026" "00025348" "30" "-2714" "0" "-2714" "0" "c.-2714C>T" "r.(?)" "p.(=)" "" "0000678026" "00010358" "30" "758" "0" "758" "0" "c.758C>T" "r.(?)" "p.(Ala253Val)" "" "0000678027" "00025348" "70" "-2794" "0" "-2787" "0" "c.-2794_-2787del" "r.(?)" "p.(=)" "" "0000678027" "00010358" "70" "678" "0" "685" "0" "c.678_685del" "r.(?)" "p.(Pro227GlyfsTer102)" "" "0000678028" "00025348" "50" "-2946" "0" "-2946" "0" "c.-2946C>T" "r.(?)" "p.(=)" "" "0000678028" "00010358" "50" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "" "0000678029" "00025348" "50" "-4150" "0" "-4150" "0" "c.-4150G>A" "r.(?)" "p.(=)" "" "0000678029" "00010358" "50" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Val131Met)" "" "0000689942" "00025348" "90" "1709" "0" "1724" "0" "c.1709_1724del" "r.(?)" "p.(Pro570GlnfsTer59)" "" "0000689942" "00010358" "90" "2729" "0" "2744" "0" "c.2729_2744del" "r.(?)" "p.(Pro910GlnfsTer59)" "" "0000689943" "00025348" "30" "1596" "0" "1596" "0" "c.1596C>T" "r.(?)" "p.(Pro532=)" "" "0000689943" "00010358" "30" "2616" "0" "2616" "0" "c.2616C>T" "r.(?)" "p.(Pro872=)" "" "0000689944" "00025348" "50" "1378" "204" "1378" "204" "c.1378+204G>A" "r.(=)" "p.(=)" "" "0000689944" "00010358" "50" "2398" "204" "2398" "204" "c.2398+204G>A" "r.(=)" "p.(=)" "" "0000689945" "00025348" "30" "1356" "0" "1356" "0" "c.1356C>T" "r.(?)" "p.(Gly452=)" "" "0000689945" "00010358" "30" "2376" "0" "2376" "0" "c.2376C>T" "r.(?)" "p.(Gly792=)" "" "0000689946" "00025348" "10" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.(Ile181=)" "" "0000689946" "00010358" "10" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Ile521=)" "" "0000689947" "00025348" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "" "0000689947" "00010358" "50" "1128" "1792" "1128" "1792" "c.1128+1792C>T" "r.(=)" "p.(=)" "" "0000701754" "00025348" "90" "1907" "0" "1907" "0" "c.1907del" "r.(?)" "p.(Asp636Alafs*81)" "" "0000701754" "00010358" "90" "2927" "0" "2927" "0" "c.2927del" "r.(?)" "p.(Asp976Alafs*81)" "" "0000701756" "00025348" "50" "-1877" "0" "-1877" "0" "c.-1877C>T" "r.(=)" "p.(=)" "" "0000701756" "00010358" "50" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Pro347Ser)" "" "0000704355" "00010358" "50" "1982" "0" "1982" "0" "c.1982C>T" "r.(?)" "p.(Ala661Val)" "" "0000708724" "00025348" "50" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Asp766Asn)" "" "0000708724" "00010358" "50" "3316" "0" "3316" "0" "c.3316G>A" "r.(?)" "p.(Asp1106Asn)" "" "0000721340" "00025348" "50" "2384" "0" "2384" "0" "c.2384G>A" "r.(?)" "p.(Arg795His)" "" "0000721340" "00010358" "50" "3404" "0" "3404" "0" "c.3404G>A" "r.(?)" "p.(Arg1135His)" "" "0000721341" "00025348" "50" "1928" "0" "1928" "0" "c.1928C>T" "r.(?)" "p.(Thr643Ile)" "" "0000721341" "00010358" "50" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "" "0000721342" "00025348" "50" "1843" "0" "1843" "0" "c.1843C>G" "r.(?)" "p.(Leu615Val)" "" "0000721342" "00010358" "50" "2863" "0" "2863" "0" "c.2863C>G" "r.(?)" "p.(Leu955Val)" "" "0000721343" "00025348" "50" "1723" "0" "1723" "0" "c.1723G>A" "r.(?)" "p.(Ala575Thr)" "" "0000721343" "00010358" "50" "2743" "0" "2743" "0" "c.2743G>A" "r.(?)" "p.(Ala915Thr)" "" "0000721344" "00025348" "50" "1687" "0" "1687" "0" "c.1687G>A" "r.(?)" "p.(Gly563Arg)" "" "0000721344" "00010358" "50" "2707" "0" "2707" "0" "c.2707G>A" "r.(?)" "p.(Gly903Arg)" "" "0000721345" "00025348" "50" "-1934" "0" "-1934" "0" "c.-1934C>T" "r.(?)" "p.(=)" "" "0000721345" "00010358" "50" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328Cys)" "" "0000721346" "00025348" "30" "-4099" "0" "-4099" "0" "c.-4099C>T" "r.(?)" "p.(=)" "" "0000721346" "00010358" "30" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Trp)" "" "0000721347" "00025348" "50" "-22395" "0" "-22395" "0" "c.-22395G>A" "r.(?)" "p.(=)" "" "0000721347" "00010358" "50" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Gly6Ser)" "" "0000783235" "00025348" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000783235" "00010358" "90" "0" "0" "0" "0" "c.-401_*409{0}" "r.0" "p.0" "_1_15_" "0000802987" "00025348" "50" "2074" "0" "2074" "0" "c.2074C>T" "r.(?)" "p.(Arg692Trp)" "" "0000802987" "00010358" "50" "3094" "0" "3094" "0" "c.3094C>T" "r.(?)" "p.(Arg1032Trp)" "" "0000802988" "00025348" "10" "1758" "0" "1758" "0" "c.1758G>A" "r.(?)" "p.(Pro586=)" "" "0000802988" "00010358" "10" "2778" "0" "2778" "0" "c.2778G>A" "r.(?)" "p.(Pro926=)" "" "0000802989" "00025348" "50" "1697" "0" "1697" "0" "c.1697C>T" "r.(?)" "p.(Ser566Leu)" "" "0000802989" "00010358" "50" "2717" "0" "2717" "0" "c.2717C>T" "r.(?)" "p.(Ser906Leu)" "" "0000802990" "00025348" "50" "1627" "0" "1627" "0" "c.1627C>T" "r.(?)" "p.(Arg543Trp)" "" "0000802990" "00010358" "50" "2647" "0" "2647" "0" "c.2647C>T" "r.(?)" "p.(Arg883Trp)" "" "0000802991" "00025348" "50" "1606" "0" "1606" "0" "c.1606G>A" "r.(?)" "p.(Glu536Lys)" "" "0000802991" "00010358" "50" "2626" "0" "2626" "0" "c.2626G>A" "r.(?)" "p.(Glu876Lys)" "" "0000802992" "00025348" "50" "638" "0" "638" "0" "c.638T>C" "r.(?)" "p.(Leu213Pro)" "" "0000802992" "00010358" "50" "1658" "0" "1658" "0" "c.1658T>C" "r.(?)" "p.(Leu553Pro)" "" "0000802993" "00025348" "90" "-1823" "0" "-1823" "0" "c.-1823G>T" "r.(?)" "p.(=)" "" "0000802993" "00010358" "90" "1093" "0" "1093" "0" "c.1093G>T" "r.(?)" "p.(Glu365*)" "" "0000802994" "00025348" "30" "-2655" "0" "-2655" "0" "c.-2655C>A" "r.(?)" "p.(=)" "" "0000802994" "00010358" "30" "817" "0" "817" "0" "c.817C>A" "r.(?)" "p.(Arg273=)" "" "0000840979" "00010358" "90" "1557" "1" "1557" "1" "c.1557+1G>C" "r.(?)" "p.(?)" "" "0000851508" "00025348" "30" "2196" "0" "2196" "0" "c.2196G>A" "r.(?)" "p.(Thr732=)" "" "0000851508" "00010358" "30" "3216" "0" "3216" "0" "c.3216G>A" "r.(?)" "p.(Thr1072=)" "" "0000851509" "00025348" "10" "1672" "7" "1672" "7" "c.1672+7C>G" "r.(=)" "p.(=)" "" "0000851509" "00010358" "10" "2692" "7" "2692" "7" "c.2692+7C>G" "r.(=)" "p.(=)" "" "0000851510" "00025348" "50" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Val455Ile)" "" "0000851510" "00010358" "50" "2383" "0" "2383" "0" "c.2383G>A" "r.(?)" "p.(Val795Ile)" "" "0000851511" "00025348" "10" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Asn369=)" "" "0000851511" "00010358" "10" "2127" "0" "2127" "0" "c.2127C>T" "r.(?)" "p.(Asn709=)" "" "0000851512" "00025348" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Gln348*)" "" "0000851512" "00010358" "90" "2062" "0" "2062" "0" "c.2062C>T" "r.(?)" "p.(Gln688*)" "" "0000851513" "00025348" "90" "914" "0" "914" "0" "c.914dup" "r.(?)" "p.(Met305Ilefs*10)" "" "0000851513" "00010358" "90" "1934" "0" "1934" "0" "c.1934dup" "r.(?)" "p.(Met645Ilefs*10)" "" "0000851514" "00025348" "30" "538" "-5" "538" "-5" "c.538-5C>T" "r.spl?" "p.?" "" "0000851514" "00010358" "30" "1558" "-5" "1558" "-5" "c.1558-5C>T" "r.spl?" "p.?" "" "0000851515" "00025348" "50" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Val151Ile)" "" "0000851515" "00010358" "50" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Val491Ile)" "" "0000851516" "00025348" "50" "-1981" "0" "-1981" "0" "c.-1981G>A" "r.(?)" "p.(=)" "" "0000851516" "00010358" "50" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Arg312His)" "" "0000851518" "00025348" "10" "-2718" "0" "-2718" "0" "c.-2718C>A" "r.(?)" "p.(=)" "" "0000851518" "00010358" "10" "754" "0" "754" "0" "c.754C>A" "r.(?)" "p.(Arg252=)" "" "0000851520" "00025348" "30" "-2753" "0" "-2753" "0" "c.-2753C>T" "r.(?)" "p.(=)" "" "0000851520" "00010358" "30" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "" "0000851521" "00025348" "70" "-19324" "0" "-19324" "0" "c.-19324G>A" "r.(?)" "p.(=)" "" "0000851521" "00010358" "70" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Cys64Tyr)" "" "0000860684" "00025348" "90" "1596" "0" "1596" "0" "c.1596del" "r.(?)" "p.(Gly533Alafs*5)" "" "0000860684" "00010358" "90" "2616" "0" "2616" "0" "c.2616del" "r.(?)" "p.(Gly873Alafs*5)" "" "0000860685" "00025348" "90" "-1790" "0" "-1790" "0" "c.-1790C>T" "r.(?)" "p.(=)" "" "0000860685" "00010358" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Gln376*)" "" "0000878888" "00025348" "90" "869" "0" "869" "0" "c.869T>G" "r.(?)" "p.(Val290Gly)" "" "0000878888" "00010358" "90" "1889" "0" "1889" "0" "c.1889T>G" "r.(?)" "p.(Val630Gly)" "7" "0000881363" "00010358" "70" "251" "0" "251" "0" "c.251A>G" "r.(?)" "p.(Gln84Arg)" "" "0000887726" "00025348" "50" "2350" "0" "2350" "0" "c.2350G>A" "r.(?)" "p.(Ala784Thr)" "" "0000887726" "00010358" "50" "3370" "0" "3370" "0" "c.3370G>A" "r.(?)" "p.(Ala1124Thr)" "" "0000887727" "00025348" "30" "2231" "0" "2231" "0" "c.2231C>T" "r.(?)" "p.(Pro744Leu)" "" "0000887727" "00010358" "30" "3251" "0" "3251" "0" "c.3251C>T" "r.(?)" "p.(Pro1084Leu)" "" "0000887728" "00025348" "10" "2120" "0" "2120" "0" "c.2120G>T" "r.(?)" "p.(Arg707Leu)" "" "0000887728" "00010358" "10" "3140" "0" "3140" "0" "c.3140G>T" "r.(?)" "p.(Arg1047Leu)" "" "0000887729" "00025348" "90" "1872" "0" "1872" "0" "c.1872dup" "r.(?)" "p.(Gly625Argfs*154)" "" "0000887729" "00010358" "90" "2892" "0" "2892" "0" "c.2892dup" "r.(?)" "p.(Gly965Argfs*154)" "" "0000887730" "00025348" "90" "1755" "0" "1755" "0" "c.1755dup" "r.(?)" "p.(Pro586AlafsTer14)" "" "0000887730" "00010358" "90" "2775" "0" "2775" "0" "c.2775dup" "r.(?)" "p.(Pro926AlafsTer14)" "" "0000887731" "00025348" "50" "1738" "0" "1738" "0" "c.1738C>G" "r.(?)" "p.(Arg580Gly)" "" "0000887731" "00010358" "50" "2758" "0" "2758" "0" "c.2758C>G" "r.(?)" "p.(Arg920Gly)" "" "0000887732" "00025348" "90" "1334" "0" "1334" "0" "c.1334G>T" "r.(?)" "p.(Gly445Val)" "" "0000887732" "00010358" "90" "2354" "0" "2354" "0" "c.2354G>T" "r.(?)" "p.(Gly785Val)" "" "0000887733" "00025348" "10" "-19" "0" "-19" "0" "c.-19G>A" "r.(?)" "p.(=)" "" "0000887733" "00010358" "10" "1128" "1769" "1128" "1769" "c.1128+1769G>A" "r.(=)" "p.(=)" "" "0000887734" "00025348" "30" "-1934" "0" "-1934" "0" "c.-1934C>T" "r.(?)" "p.(=)" "" "0000887734" "00010358" "30" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328Cys)" "" "0000887735" "00025348" "90" "-2740" "0" "-2740" "0" "c.-2740del" "r.(?)" "p.(=)" "" "0000887735" "00010358" "90" "732" "0" "732" "0" "c.732del" "r.(?)" "p.(Gly246Alafs*114)" "" "0000887736" "00025348" "50" "-2777" "0" "-2777" "0" "c.-2777G>C" "r.(?)" "p.(=)" "" "0000887736" "00010358" "50" "695" "0" "695" "0" "c.695G>C" "r.(?)" "p.(Arg232Pro)" "" "0000887737" "00025348" "30" "-2851" "0" "-2851" "0" "c.-2851C>T" "r.(?)" "p.(=)" "" "0000887737" "00010358" "30" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Ser207=)" "" "0000887739" "00025348" "10" "-3004" "0" "-3004" "0" "c.-3004C>T" "r.(?)" "p.(=)" "" "0000887739" "00010358" "10" "473" "-5" "473" "-5" "c.473-5C>T" "r.spl?" "p.?" "" "0000887740" "00025348" "70" "-19318" "0" "-19318" "0" "c.-19318G>A" "r.(?)" "p.(=)" "" "0000887740" "00010358" "70" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Cys66Tyr)" "" "0000908419" "00010358" "50" "1813" "0" "1813" "0" "c.1813C>G" "r.(?)" "p.(Pro605Ala)" "" "0000908891" "00010358" "90" "2399" "-28" "2399" "-28" "c.2399-28del" "r.0" "p.0" "" "0000908910" "00010358" "70" "1128" "5" "1128" "15" "c.1128+5_1128+15delinsAC" "r.917_1128del" "p.Ala307Profs*10" "" "0000912681" "00025348" "90" "2076" "0" "2076" "0" "c.2076del" "r.(?)" "p.(Arg693Glyfs*24)" "" "0000912681" "00010358" "90" "3096" "0" "3096" "0" "c.3096del" "r.(?)" "p.(Arg1033Glyfs*24)" "" "0000912682" "00025348" "90" "857" "0" "857" "0" "c.857G>T" "r.(?)" "p.(Gly286Val)" "" "0000912682" "00010358" "90" "1877" "0" "1877" "0" "c.1877G>T" "r.(?)" "p.(Gly626Val)" "" "0000912683" "00025348" "10" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(Ala208=)" "" "0000912683" "00010358" "10" "1644" "0" "1644" "0" "c.1644C>T" "r.(?)" "p.(Ala548=)" "" "0000920718" "00010358" "70" "850" "0" "865" "0" "c.850_865del" "r.(?)" "p.(Ser284ArgfsTer71)" "" "0000924670" "00025348" "50" "1157" "0" "1157" "0" "c.1157C>T" "r.(?)" "p.(Ala386Val)" "" "0000924670" "00010358" "50" "2177" "0" "2177" "0" "c.2177C>T" "r.(?)" "p.(Ala726Val)" "" "0000924671" "00025348" "10" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Asn318=)" "" "0000924671" "00010358" "10" "1974" "0" "1974" "0" "c.1974C>T" "r.(?)" "p.(Asn658=)" "" "0000924672" "00025348" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Cys)" "" "0000924672" "00010358" "90" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Cys)" "" "0000924673" "00025348" "50" "-1957" "0" "-1957" "0" "c.-1957C>G" "r.(?)" "p.(=)" "" "0000924673" "00010358" "50" "959" "0" "959" "0" "c.959C>G" "r.(?)" "p.(Ser320Trp)" "" "0000929308" "00025348" "10" "2055" "0" "2055" "0" "c.2055C>T" "r.(?)" "p.(Ile685=)" "" "0000929308" "00010358" "10" "3075" "0" "3075" "0" "c.3075C>T" "r.(?)" "p.(Ile1025=)" "" "0000929309" "00025348" "90" "1946" "-3" "1946" "-3" "c.1946-3C>G" "r.spl?" "p.?" "" "0000929309" "00010358" "90" "2966" "-3" "2966" "-3" "c.2966-3C>G" "r.spl?" "p.?" "" "0000929311" "00025348" "10" "538" "-5" "538" "-5" "c.538-5C>T" "r.spl?" "p.?" "" "0000929311" "00010358" "10" "1558" "-5" "1558" "-5" "c.1558-5C>T" "r.spl?" "p.?" "" "0000929312" "00025348" "50" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22Trp)" "" "0000929312" "00010358" "50" "1128" "1851" "1128" "1851" "c.1128+1851C>T" "r.(=)" "p.(=)" "" "0000948878" "00025348" "50" "2437" "0" "2437" "0" "c.2437C>T" "r.(?)" "p.(His813Tyr)" "" "0000948878" "00010358" "50" "3457" "0" "3457" "0" "c.3457C>T" "r.(?)" "p.(His1153Tyr)" "" "0000948879" "00025348" "50" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Asp766Asn)" "" "0000948879" "00010358" "50" "3316" "0" "3316" "0" "c.3316G>A" "r.(?)" "p.(Asp1106Asn)" "" "0000948880" "00025348" "30" "1738" "0" "1738" "0" "c.1738C>G" "r.(?)" "p.(Arg580Gly)" "" "0000948880" "00010358" "30" "2758" "0" "2758" "0" "c.2758C>G" "r.(?)" "p.(Arg920Gly)" "" "0000948881" "00025348" "50" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(His391Tyr)" "" "0000948881" "00010358" "50" "2191" "0" "2191" "0" "c.2191C>T" "r.(?)" "p.(His731Tyr)" "" "0000948882" "00025348" "90" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Gly232Asp)" "" "0000948882" "00010358" "90" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Gly572Asp)" "" "0000948883" "00025348" "10" "312" "0" "312" "0" "c.312G>A" "r.(?)" "p.(Glu104=)" "" "0000948883" "00010358" "10" "1332" "0" "1332" "0" "c.1332G>A" "r.(?)" "p.(Glu444=)" "" "0000948884" "00025348" "90" "118" "0" "118" "0" "c.118del" "r.(?)" "p.(Leu40Trpfs*54)" "" "0000948884" "00010358" "90" "1138" "0" "1138" "0" "c.1138del" "r.(?)" "p.(Leu380Trpfs*54)" "" "0000948885" "00025348" "50" "-1822" "0" "-1822" "0" "c.-1822A>G" "r.(?)" "p.(=)" "" "0000948885" "00010358" "50" "1094" "0" "1094" "0" "c.1094A>G" "r.(?)" "p.(Glu365Gly)" "" "0000959823" "00010358" "50" "308" "-173" "308" "-173" "c.308-173G>T" "r.(?)" "p.(?)" "" "0000960201" "00025348" "90" "-2946" "0" "-2946" "0" "c.-2946C>T" "r.(=)" "p.(=)" "" "0000960201" "00010358" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "" "0000964488" "00025348" "50" "2323" "0" "2323" "0" "c.2323A>G" "r.(?)" "p.(Met775Val)" "" "0000964488" "00010358" "50" "3343" "0" "3343" "0" "c.3343A>G" "r.(?)" "p.(Met1115Val)" "" "0000964490" "00025348" "50" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Arg674Gln)" "" "0000964490" "00010358" "50" "3041" "0" "3041" "0" "c.3041G>A" "r.(?)" "p.(Arg1014Gln)" "" "0000964493" "00025348" "10" "300" "0" "300" "0" "c.300G>T" "r.(?)" "p.(Pro100=)" "" "0000964493" "00010358" "10" "1320" "0" "1320" "0" "c.1320G>T" "r.(?)" "p.(Pro440=)" "" "0000972069" "00010358" "70" "329" "0" "329" "0" "c.329T>G" "r.(?)" "p.(Val110Gly)" "" "0000972070" "00010358" "50" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164His)" "" "0000977572" "00025348" "30" "1928" "0" "1928" "0" "c.1928C>T" "r.(?)" "p.(Thr643Ile)" "" "0000977572" "00010358" "30" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "" "0000985219" "00010358" "90" "2656" "0" "2656" "0" "c.2656A>T" "r.(?)" "p.(Lys886Ter)" "" "0000989700" "00010358" "90" "" "0" "" "0" "c.-401_*409{0}" "r.?" "p.?" "" "0000989701" "00010358" "50" "3347" "0" "3347" "0" "c.3347C>T" "r.(?)" "p.(Ala1116Val)" "" "0000989702" "00010358" "70" "1557" "2" "1557" "2" "c.1557+2T>C" "r.spl" "p.?" "" "0000996278" "00025348" "30" "2311" "-9" "2311" "-8" "c.2311-9_2311-8del" "r.(=)" "p.(=)" "" "0000996278" "00010358" "30" "3331" "-9" "3331" "-8" "c.3331-9_3331-8del" "r.(=)" "p.(=)" "" "0000996279" "00025348" "90" "1939" "0" "1940" "0" "c.1939_1940del" "r.(?)" "p.(Leu647ValfsTer131)" "" "0000996279" "00010358" "90" "2959" "0" "2960" "0" "c.2959_2960del" "r.(?)" "p.(Leu987ValfsTer131)" "" "0000996280" "00025348" "30" "1921" "0" "1921" "0" "c.1921A>G" "r.(?)" "p.(Ser641Gly)" "" "0000996280" "00010358" "30" "2941" "0" "2941" "0" "c.2941A>G" "r.(?)" "p.(Ser981Gly)" "" "0000996281" "00025348" "50" "1627" "0" "1627" "0" "c.1627C>T" "r.(?)" "p.(Arg543Trp)" "" "0000996281" "00010358" "50" "2647" "0" "2647" "0" "c.2647C>T" "r.(?)" "p.(Arg883Trp)" "" "0000996282" "00025348" "30" "1379" "-6" "1379" "-6" "c.1379-6C>T" "r.(=)" "p.(=)" "" "0000996282" "00010358" "30" "2399" "-6" "2399" "-6" "c.2399-6C>T" "r.(=)" "p.(=)" "" "0000996283" "00025348" "50" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Val304Ile)" "" "0000996283" "00010358" "50" "1930" "0" "1930" "0" "c.1930G>A" "r.(?)" "p.(Val644Ile)" "" "0000996284" "00025348" "70" "902" "0" "902" "0" "c.902C>G" "r.(?)" "p.(Ser301Cys)" "" "0000996284" "00010358" "70" "1922" "0" "1922" "0" "c.1922C>G" "r.(?)" "p.(Ser641Cys)" "" "0000996286" "00025348" "90" "694" "0" "694" "0" "c.694G>T" "r.(?)" "p.(Gly232Cys)" "" "0000996286" "00010358" "90" "1714" "0" "1714" "0" "c.1714G>T" "r.(?)" "p.(Gly572Cys)" "" "0000996287" "00025348" "90" "481" "0" "481" "0" "c.481G>C" "r.(?)" "p.(Asp161His)" "" "0000996287" "00010358" "90" "1501" "0" "1501" "0" "c.1501G>C" "r.(?)" "p.(Asp501His)" "" "0000996288" "00025348" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Cys)" "" "0000996288" "00010358" "50" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Arg488Cys)" "" "0000996289" "00025348" "90" "244" "0" "244" "0" "c.244G>T" "r.(?)" "p.(Ala82Ser)" "" "0000996289" "00010358" "90" "1264" "0" "1264" "0" "c.1264G>T" "r.(?)" "p.(Ala422Ser)" "" "0000996290" "00025348" "50" "-2604" "0" "-2604" "0" "c.-2604G>A" "r.(?)" "p.(=)" "" "0000996290" "00010358" "50" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Ala290Thr)" "" "0000996291" "00025348" "90" "-2607" "0" "-2607" "0" "c.-2607G>T" "r.(?)" "p.(=)" "" "0000996291" "00010358" "90" "865" "0" "865" "0" "c.865G>T" "r.(?)" "p.(Glu289*)" "" "0000996292" "00025348" "50" "-2834" "0" "-2834" "0" "c.-2834A>G" "r.(?)" "p.(=)" "" "0000996292" "00010358" "50" "638" "0" "638" "0" "c.638A>G" "r.(?)" "p.(Asp213Gly)" "" "0000996293" "00025348" "50" "-3002" "0" "-3002" "0" "c.-3002C>T" "r.(?)" "p.(=)" "" "0000996293" "00010358" "50" "473" "-3" "473" "-3" "c.473-3C>T" "r.spl?" "p.?" "" "0001007484" "00010358" "70" "1128" "1820" "1128" "1821" "c.1128+1820_1128+1821del" "r.?" "p.(Ala13SerfsTer34)" "" "0001007485" "00010358" "70" "1603" "0" "1603" "0" "c.1603G>A" "r.(?)" "p.(Val535Met)" "" "0001007486" "00010358" "30" "1128" "1851" "1128" "1851" "c.1128+1851C>T" "p.Arg22Trp" "p.?" "" "0001007533" "00010358" "70" "3469" "0" "3469" "0" "c.3469C>T" "r.(?)" "p.(Pro1157Ser)" "" "0001007546" "00010358" "70" "961" "0" "961" "0" "c.961G>T" "r.(?)" "p.(Asp321Tyr)" "" "0001014320" "00025348" "90" "1235" "0" "1235" "0" "c.1235G>C" "r.(?)" "p.(Arg412Pro)" "" "0001014320" "00010358" "90" "2255" "0" "2255" "0" "c.2255G>C" "r.(?)" "p.(Arg752Pro)" "" "0001014321" "00025348" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Tyr205=)" "" "0001014321" "00010358" "30" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Tyr545=)" "" "0001014322" "00025348" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Val136Ile)" "" "0001014322" "00010358" "50" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Val476Ile)" "" "0001014323" "00025348" "50" "-2816" "0" "-2816" "0" "c.-2816A>T" "r.(?)" "p.(=)" "" "0001014323" "00010358" "50" "656" "0" "656" "0" "c.656A>T" "r.(?)" "p.(Asp219Val)" "" "0001025357" "00025348" "50" "2323" "0" "2323" "0" "c.2323A>G" "r.(?)" "p.(Met775Val)" "" "0001025357" "00010358" "50" "3343" "0" "3343" "0" "c.3343A>G" "r.(?)" "p.(Met1115Val)" "" "0001036192" "00025348" "90" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Gly232Ser)" "" "0001036192" "00010358" "90" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Gly572Ser)" "" "0001046110" "00025348" "50" "-2583" "0" "-2583" "0" "c.-2583C>T" "r.(?)" "p.(=)" "" "0001046110" "00010358" "50" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Pro297Ser)" "" "0001047040" "00010358" "50" "1010" "0" "1010" "0" "c.1010C>G" "r.(?)" "p.(Thr337Ser)" "" "0001047220" "00010358" "50" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 866 "{{screeningid}}" "{{variantid}}" "0000004170" "0000023130" "0000004171" "0000023131" "0000004172" "0000023132" "0000004173" "0000023133" "0000004173" "0000036849" "0000004174" "0000023134" "0000004175" "0000023135" "0000004176" "0000023136" "0000004177" "0000023137" "0000004177" "0000036850" "0000004178" "0000023138" "0000049432" "0000078319" "0000049433" "0000078320" "0000049434" "0000078321" "0000049435" "0000078322" "0000049436" "0000078323" "0000049437" "0000078324" "0000049438" "0000078325" "0000049439" "0000078326" "0000049440" "0000078327" "0000049441" "0000078328" "0000049442" "0000078329" "0000049443" "0000078330" "0000049444" "0000078331" "0000049445" "0000078332" "0000049446" "0000078333" "0000049447" "0000078334" "0000049448" "0000078335" "0000049449" "0000078336" "0000049450" "0000078337" "0000049451" "0000078338" "0000049452" "0000078339" "0000049453" "0000078340" 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