### LOVD-version 3000-260 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DOK7) # 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}}" "DOK7" "docking protein 7" "4" "p16.2" "unknown" "NG_013072.2" "UD_132118428571" "" "https://www.LOVD.nl/DOK7" "" "1" "26594" "285489" "610285" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/DOK7_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-01-01 00:00:00" "00006" "2019-12-30 12:01:49" "00000" "2021-02-08 18:36:18" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006631" "DOK7" "transcript variant 1" "001" "NM_173660.4" "" "NP_775931.3" "" "" "" "-70" "2496" "1515" "3465033" "3496209" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08" "01948" "CMS10" "myasthenic syndrome, congenital, type 10 (CMS-10)" "AR" "254300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-02 08:20:34" "04312" "CMS" "syndrome, myasthenic, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2018-02-06 21:20:12" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05868" "FADS3" "akinesia, fetal, deformation sequence, type 3 (FADS3)" "AR" "618389" "" "" "" "00006" "2020-10-27 12:56:00" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "DOK7" "01666" "DOK7" "01948" "DOK7" "05868" ## Individuals ## Do not remove or alter this header ## ## Count = 286 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}" "00035635" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035636" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035637" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035638" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035639" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035640" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035641" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035642" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035643" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035644" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035645" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035646" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035647" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035648" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035649" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035650" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035651" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035652" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035653" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035654" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035655" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035656" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035657" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035658" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035659" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035660" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035661" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035662" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035663" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035664" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035665" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035666" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035667" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035668" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035669" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035670" "" "" "" "1" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080928" "" "" "" "1" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00117928" "" "" "" "2" "01802" "de Natera, 2017" "" "F" "no" "Spain" "" "0" "" "" "" "patient 51" "00117929" "" "" "" "2" "01802" "de Natera, 2017" "" "F" "no" "Spain" "" "0" "" "" "" "patient 52" "00153053" "" "" "" "2" "00513" "" "patient has unaffected carrier father" "" "" "Germany" "" "0" "" "" "" "" "00163650" "" "" "" "1" "02440" "" "Fetus, TOP 24th GW" "F" "no" "Germany" "" "0" "yes" "none" "" "" "00207959" "" "" "" "1" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00211198" "" "" "" "2" "00006" "see also {PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}" "" "M" "" "United Kingdom (Great Britain)" ">34y" "0" "" "" "white" "16917026-Ind01" "00211199" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}" "" "M" "" "United Kingdom (Great Britain)" ">55y" "0" "" "" "white" "16917026-Ind02" "00211200" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}" "" "F" "" "United Kingdom (Great Britain)" ">63y" "0" "" "" "white" "16917026-Ind03" "00211201" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}" "" "F" "" "United Kingdom (Great Britain)" ">63y" "0" "" "" "white" "16917026-Ind04" "00211202" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}" "" "F" "" "United Kingdom (Great Britain)" ">49y" "0" "" "" "white" "16917026-Ind05" "00211203" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}" "" "F" "" "United Kingdom (Great Britain)" ">49y" "0" "" "" "white" "16917026-Ind06" "00211204" "" "" "" "2" "00006" "see also {PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}" "" "F" "" "India" ">26y" "0" "" "" "Asian" "16917026-Ind07" "00211205" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, LGM1 in {PMID:Slater 2006:16870884}" "" "F" "" "United Kingdom (Great Britain)" ">28y" "0" "" "" "white" "16917026-Ind08" "00211206" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}, LGM3 in {PMID:Slater 2006:16870884}" "" "M" "" "United Kingdom (Great Britain)" ">14y" "0" "" "" "white" "16917026-Ind09" "00211207" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "16917026-Ind10" "00211208" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, LGM8 in {PMID:Slater 2006:16870884}" "sister of 16917026-Ind11b" "F" "" "United Kingdom (Great Britain)" ">50y" "0" "" "" "white" "16917026-Ind11" "00211209" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}" "brother of 16917026-Ind11" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "16917026-Ind11b" "00211210" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}, LGM4 in {PMID:Slater 2006:16870884}" "" "F" "" "United Kingdom (Great Britain)" ">26y" "0" "" "" "white" "16917026-Ind13" "00211211" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}, LGM7 in {PMID:Slater 2006:16870884}" "" "M" "" "United Kingdom (Great Britain)" ">20y" "0" "" "" "white" "16917026-Ind14" "00211212" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}" "" "" "" "Finland" "" "0" "" "" "" "16917026-Ind15" "00211213" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "16917026-Ind16" "00211214" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}" "" "" "" "Portugal" "" "0" "" "" "" "16917026-Ind17" "00211215" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}" "" "" "" "Spain" "" "0" "" "" "" "16917026-Ind18" "00211216" "" "" "" "1" "00006" "{PMID:Beeson 2006:16917026}, {PMID:Schara 2009:19837590}" "treated with ephedrine (Schara 2009)" "M" "" "Germany" "" "0" "" "" "" "16917026-Ind19" "00211217" "" "" "" "1" "00006" "{PMID:Beeson 2006:16917026}, {PMID:Schara 2009:19837590}" "treated with ephedrine (Schara 2009)" "M" "" "Germany" "" "0" "" "" "" "16917026-Ind20" "00211218" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}" "" "" "" "Spain" "" "0" "" "" "" "16917026-Ind21" "00211219" "" "" "" "1" "00006" "see also {PMID:Beeson 2006:16917026}, LGM5 in {PMID:Slater 2006:16870884}" "" "M" "" "United Kingdom (Great Britain)" ">22y" "0" "" "" "white" "16917026-Ind12" "00211220" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat01" "00211221" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat02" "00211222" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat03" "00211223" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat04" "00211224" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat05" "00211225" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat06" "00211226" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat07" "00211227" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat08" "00211228" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat09" "00211229" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat10" "00211230" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat11" "00211231" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat12" "00211232" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat13" "00211233" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat14" "00211234" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat15" "00211235" "" "" "" "1" "00464" "see also {PMID:Selcen 2008:18626973}" "" "" "" "(United States)" "" "0" "" "" "" "18626973-Pat16" "00211236" "" "" "" "1" "00006" "see {PMID:Muller 2007:17439981}" "" "M" "" "Hungary" "" "0" "" "" "" "17439981-Fam1P1" "00211237" "" "" "" "1" "00006" "see {PMID:Muller 2007:17439981}" "" "F" "" "Spain" "" "0" "" "" "" "17439981-Fam8P10" "00211238" "" "" "" "1" "00006" "{PMID:Muller 2007:17439981}, {PMID:Schara 2009:19837590}" "treated with ephedrine (Schara 2009)" "F" "" "Germany" "" "0" "" "" "" "17439981-Fam9P11" "00211239" "" "" "" "1" "00006" "see {PMID:Muller 2007:17439981}" "" "F" "" "Spain" "" "0" "" "" "" "17439981-Fam10P12" "00211240" "" "" "" "1" "00513" "see {PMID:Muller 2007:17439981}" "" "M" "" "Portugal" "" "0" "" "" "" "17439981-Fam11P13" "00211241" "" "" "" "1" "00513" "see {PMID:Muller 2007:17439981}" "" "F" "" "" "" "0" "" "" "South America" "17439981-Fam12P14" "00211242" "" "" "" "1" "00006" "see {PMID:Muller 2007:17439981}" "" "M" "" "Hungary" "" "0" "" "" "" "17439981-Fam1P2" "00211243" "" "" "" "1" "00006" "see {PMID:Muller 2007:17439981}" "" "F" "" "Finland" "" "0" "" "" "" "17439981-Fam2P3" "00211244" "" "" "" "1" "00513" "see {PMID:Muller 2007:17439981}" "" "F" "" "Canada" "" "0" "" "" "" "17439981-Fam3P4" "00211245" "" "" "" "1" "00513" "see {PMID:Muller 2007:17439981}" "" "F" "" "Portugal" "" "0" "" "" "" "17439981-Fam4P5" "00211246" "" "" "" "1" "00513" "see {PMID:Muller 2007:17439981}" "" "F" "" "Spain" "" "0" "" "" "" "17439981-Fam5P6" "00211247" "" "" "" "1" "00006" "see {PMID:Muller 2007:17439981}" "" "M" "" "Germany" "" "0" "" "" "" "17439981-Fam6P7" "00211248" "" "" "" "1" "00513" "see {PMID:Muller 2007:17439981}" "" "M" "" "Germany" "" "0" "" "" "" "17439981-Fam7P8" "00211249" "" "" "" "1" "00006" "see {PMID:Muller 2007:17439981}" "" "M" "" "Spain" "" "0" "" "" "" "17439981-Fam8P9" "00211250" "" "" "" "1" "00006" "see {PMID:Muller 2007:17439981}" "" "M" "" "Spain" "" "0" "" "" "" "17439981-Fam8P9" "00211251" "" "" "" "1" "00006" "see {PMID:Palace 2007:17452375}" "" "M" "" "United Kingdom (Great Britain)" ">19y" "0" "" "" "" "17452375-Pat05" "00211252" "" "" "" "1" "00006" "see {PMID:Palace 2007:17452375}" "" "M" "" "United Kingdom (Great Britain)" ">55y" "0" "" "" "" "17452375-Pat06" "00211253" "" "" "" "1" "00006" "see {PMID:Palace 2007:17452375}" "sister of 17452375-Pat09" "F" "" "United Kingdom (Great Britain)" ">38y" "0" "" "" "" "17452375-Pat08" "00211254" "" "" "" "1" "00006" "see {PMID:Palace 2007:17452375}" "sister of 17452375-Pat08" "F" "" "United Kingdom (Great Britain)" ">45y" "0" "" "" "" "17452375-Pat09" "00211255" "" "" "" "1" "00006" "see {PMID:Palace 2007:17452375}" "" "F" "" "United Kingdom (Great Britain)" ">26y" "0" "" "" "" "17452375-Pat10" "00211256" "" "" "" "1" "00464" "" "" "" "" "United States" "" "0" "" "" "African American" "" "00211257" "" "" "" "1" "00464" "" "" "" "" "United States" "" "0" "" "" "" "" "00211258" "" "" "" "1" "00464" "" "" "" "" "Canada" "" "0" "" "" "" "" "00211259" "" "" "" "1" "00464" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00211260" "" "" "" "1" "00006" "{PMID:Srour 2010:20610155}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "20610155-FamA" "00211261" "" "" "" "3" "00006" "{PMID:Srour 2010:20610155}" "3 affecteds" "" "" "Canada" "" "0" "" "" "French-Canadian" "20610155-FamB" "00211262" "" "" "" "1" "00006" "{PMID:Srour 2010:20610155}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "20610155-FamC" "00211263" "" "" "" "1" "00006" "{PMID:Srour 2010:20610155}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "20610155-FamD" "00211264" "" "" "" "1" "00006" "{PMID:Srour 2010:20610155}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "20610155-FamE" "00211265" "" "" "" "1" "00464" "" "" "" "" "United States" "" "0" "" "" "" "" "00211266" "" "" "" "1" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "" "00211267" "" "" "" "1" "00464" "" "" "M" "" "Australia" "" "0" "" "" "white" "" "00211268" "" "" "" "1" "00006" "{PMID:Mihaylova 2010:20562457}" "relative of 20562457-Pat19" "F" "" "Portugal" "" "0" "" "" "Indian African" "20562457-Pat18" "00211269" "" "" "" "1" "00006" "{PMID:Mihaylova 2010:20562457}" "relative of 20562457-Pat18" "M" "" "Portugal" "" "0" "" "" "Indian African" "20562457-Pat19" "00211270" "" "" "" "1" "00006" "{PMID:Mihaylova 2010:20562457}" "" "F" "" "Portugal;Poland" "" "0" "" "" "" "20562457-Pat17" "00211271" "" "" "" "1" "00006" "{PMID:Mihaylova 2010:20562457}" "" "M" "" "Portugal" "" "0" "" "" "" "20562457-Pat20" "00211272" "" "" "" "1" "00006" "{PMID:Anderson 2007:18161030}" "" "F" "" "United States" "" "0" "" "" "" "18161030-Pat1" "00211273" "" "" "" "1" "00006" "{PMID:Anderson 2007:18161030}" "" "F" "" "United States" "" "0" "" "" "" "18161030-Pat2" "00211274" "" "" "" "1" "00006" "{PMID:Anderson 2007:18161030}" "" "M" "" "United States" "" "0" "" "" "" "18161030-Pat3" "00211275" "" "" "" "1" "00006" "{PMID:Anderson 2007:18161030}" "" "M" "" "United States" "" "0" "" "" "" "18161030-Pat4" "00211276" "" "" "" "1" "00006" "{PMID:Anderson 2007:18161030}" "" "M" "" "United States" "" "0" "" "" "" "18161030-Pat5" "00211277" "" "" "" "1" "00006" "{PMID:Anderson 2007:18161030}" "" "M" "" "United States" "" "0" "" "" "" "18161030-Pat6" "00211278" "" "" "" "3" "00006" "{PMID:Vogt 2009:19261599}" "fetus1 family, 3 affecteds, parents and 2 healthy children heterozygous carriers" "" "" "India" "<0d" "0" "" "" "Bengal" "19261599-MPS012" "00211279" "" "" "" "1" "00006" "{PMID:Vogt 2009:19261599}" "fetus2 family, 3 affecteds, parents and 2 healthy children heterozygous carriers" "" "" "India" "<0d" "0" "" "" "Bengal" "19261599-MPS012" "00211280" "" "" "" "1" "00006" "{PMID:Vogt 2009:19261599}" "fetus3 family, 3 affecteds, parents and 2 healthy children heterozygous carriers" "" "" "India" "<0d" "0" "" "" "Bengal" "19261599-MPS012" "00211281" "" "" "" "1" "00006" "{PMID:Schara 2009:19837590}" "" "M" "" "Germany" "" "0" "" "" "" "19837590-Pat4" "00211282" "" "" "" "1" "00006" "{PMID:Schara 2009:19837590}" "" "F" "" "Croatia (Hrvatska)" "" "0" "" "" "" "19837590-Pat5" "00211283" "" "" "" "1" "00006" "{PMID:Schara 2009:19837590}" "brother of 19837590-Pat7" "M" "" "Sweden" "" "0" "" "" "" "19837590-Pat6" "00211284" "" "" "" "1" "00006" "{PMID:Schara 2009:19837590}" "brother of 19837590-Pat6" "M" "" "Sweden" "" "0" "" "" "" "19837590-Pat7" "00211285" "" "" "" "1" "00006" "{PMID:Schara 2009:19837590}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "19837590-Pat8" "00211286" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "" "M" "" "France" ">69y" "0" "" "" "" "20012313-Pat01" "00211287" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "" "F" "" "France" ">56y" "0" "" "" "" "20012313-Pat02" "00211288" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "" "M" "" "France" ">47y" "0" "" "" "" "20012313-Pat03" "00211289" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "" "M" "" "France" ">46y" "0" "" "" "" "20012313-Pat04" "00211290" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "relative of 20012313-Pat06" "F" "" "France" ">36y" "0" "" "" "" "20012313-Pat05" "00211291" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "relative of 20012313-Pat05" "M" "" "France" ">41y" "0" "" "" "" "20012313-Pat06" "00211292" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "" "M" "" "France" ">32y" "0" "" "" "" "20012313-Pat07" "00211293" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "" "F" "" "France" ">30y" "0" "" "" "" "20012313-Pat08" "00211294" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "" "F" "" "France" ">18y" "0" "" "" "" "20012313-Pat09" "00211295" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "" "F" "" "France" ">14y" "0" "" "" "" "20012313-Pat10" "00211296" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "" "M" "" "France" ">18y" "0" "" "" "" "20012313-Pat11" "00211297" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "" "F" "" "France" ">18y" "0" "" "" "" "20012313-Pat12" "00211298" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "" "F" "" "France" ">12y" "0" "" "" "" "20012313-Pat13" "00211299" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "relative of 20012313-Pat15" "M" "" "France" ">26y" "0" "" "" "" "20012313-Pat14" "00211300" "" "" "" "1" "00006" "{PMID:BenAmmar 2010:20012313}" "relative of 20012313-Pat14" "M" "" "France" ">8y" "0" "" "" "" "20012313-Pat15" "00211301" "" "" "" "1" "00006" "{PMID:Lashley 2010:20458068}" "relative of 20458068-Pat02" "" "" "" "" "0" "" "" "" "20458068-Pat01" "00211302" "" "" "" "1" "00006" "{PMID:Lashley 2010:20458068}" "relative of 20458068-Pat01" "" "" "" "" "0" "" "" "" "20458068-Pat02" "00211303" "" "" "" "1" "00006" "{PMID:Lashley 2010:20458068}" "relative of 20458068-Pat04" "" "" "" "" "0" "" "" "" "20458068-Pat03" "00211304" "" "" "" "1" "00006" "{PMID:Lashley 2010:20458068}" "relative of 20458068-Pat03" "" "" "" "" "0" "" "" "" "20458068-Pat04" "00211305" "" "" "" "1" "00006" "{PMID:Lashley 2010:20458068}" "relative of 20458068-Pat06" "" "" "" "" "0" "" "" "" "20458068-Pat05" "00211306" "" "" "" "1" "00006" "{PMID:Lashley 2010:20458068}" "relative of 20458068-Pat05" "" "" "" "" "0" "" "" "" "20458068-Pat06" "00211307" "" "" "" "1" "00006" "{PMID:Lashley 2010:20458068}" "" "" "" "" "" "0" "" "" "" "20458068-Pat07" "00211308" "" "" "" "1" "00006" "{PMID:Lashley 2010:20458068}" "" "" "" "" "" "0" "" "" "" "20458068-Pat08" "00211309" "" "" "" "1" "00006" "{PMID:Lashley 2010:20458068}" "" "" "" "" "" "0" "" "" "" "20458068-Pat09" "00211310" "" "" "" "1" "00006" "{PMID:Lashley 2010:20458068}" "" "" "" "" "" "0" "" "" "" "20458068-Pat10" "00211311" "" "" "" "1" "00006" "{PMID:Jephson 2010:20554332}" "" "" "" "" "" "0" "" "" "" "20554332-Pat1" "00211312" "" "" "" "1" "00006" "{PMID:Jephson 2010:20554332}" "" "" "" "" "" "0" "" "" "" "20554332-Pat2" "00211313" "" "" "" "1" "00006" "{PMID:Jephson 2010:20554332}" "" "" "" "" "" "0" "" "" "" "20554332-Pat3" "00211314" "" "" "" "1" "00006" "{PMID:Jephson 2010:20554332}" "" "" "" "" "" "0" "" "" "" "20554332-Pat4" "00211315" "" "" "" "1" "00006" "{PMID:Jephson 2010:20554332}" "" "" "" "" "" "0" "" "" "" "20554332-Pat5" "00211316" "" "" "" "1" "00006" "{PMID:Jephson 2010:20554332}" "" "" "" "" "" "0" "" "" "" "20554332-Pat6" "00211317" "" "" "" "1" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00211318" "" "" "" "1" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00211319" "" "" "" "1" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00211320" "" "" "" "1" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00211321" "" "" "" "1" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00211322" "" "" "" "1" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00211323" "" "" "" "1" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00211324" "" "" "" "1" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00211325" "" "" "" "1" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00211326" "" "" "" "1" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00211327" "" "" "" "1" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00211328" "" "" "" "1" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00211329" "" "" "" "1" "00513" "" "patient has unaffected carrier father" "" "" "Germany" "" "0" "" "" "" "" "00211330" "" "" "" "1" "00511" "" "" "M" "" "Reunion" "" "0" "" "" "" "" "00211331" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "M" "yes" "United Kingdom (Great Britain)" ">13y" "0" "" "" "" "22661499-Pat16" "00211332" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "F" "no" "United Kingdom (Great Britain)" ">8y" "0" "" "" "" "22661499-Pat12" "00211333" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat01" "00211334" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat02" "00211335" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat03" "00211336" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat04" "00211337" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat05" "00211338" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat06" "00211339" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat07" "00211340" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat08" "00211341" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat09" "00211342" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat10" "00211343" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat11" "00211344" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat13" "00211345" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat14" "00211346" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat15" "00211347" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat17" "00211348" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat18" "00211349" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat19" "00211350" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat20" "00211351" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat21" "00211352" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat22" "00211353" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat23" "00211354" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat24" "00211355" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat25" "00211356" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat26" "00211357" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat27" "00211358" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat28" "00211359" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat29" "00211360" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat30" "00211361" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat31" "00211362" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat32" "00211363" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat33" "00211364" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat34" "00211365" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat35" "00211366" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat36" "00211367" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat37" "00211368" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat38" "00211369" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat39" "00211370" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat40" "00211371" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat41" "00211372" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat42" "00211373" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat43" "00211374" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat44" "00211375" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat45" "00211376" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat46" "00211377" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat47" "00211378" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat48" "00211379" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat49" "00211380" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat50" "00211381" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat51" "00211382" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat52" "00211383" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat53" "00211384" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat54" "00211385" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat55" "00211386" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat56" "00211387" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat57" "00211388" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat58" "00211389" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat59" "00211390" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat60" "00211391" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat61" "00211392" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat62" "00211393" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat63" "00211394" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat64" "00211395" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat65" "00211396" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "unrelated patients" "" "" "India" "" "0" "" "" "Tamil" "22661499-Pat66" "00211397" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "unrelated patients" "" "" "India" "" "0" "" "" "Tamil" "22661499-Pat67" "00211398" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat68" "00211399" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat69" "00211400" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat70" "00211401" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat71" "00211402" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pat72" "00211403" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211404" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211405" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211406" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211407" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211408" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211409" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211410" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211411" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211412" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211413" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211414" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211415" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211416" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211417" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211418" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211419" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211420" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211421" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211422" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211423" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211424" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211425" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211426" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211427" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211428" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211429" "" "" "" "1" "00006" "{PMID:Cossins 2012:22661499}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "22661499-Pats" "00211430" "" "" "" "1" "00464" "" "" "M" "" "United States" "" "0" "" "" "white" "" "00211431" "" "" "" "1" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "" "00211432" "" "" "" "1" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "" "00211433" "" "" "" "1" "00006" "" "" "" "" "Australia" "" "0" "" "" "Tamil" "private email" "00211434" "" "" "" "1" "00464" "" "" "F" "" "Canada" "" "0" "" "" "French-Canadian" "" "00211435" "" "" "" "1" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "" "00211436" "" "" "" "1" "00511" "" "" "F" "" "France" "" "0" "" "" "" "" "00293614" "" "" "" "1" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293615" "" "" "" "4" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295474" "" "" "" "2" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309729" "" "" "" "1" "03219" "" "" "M" "" "India" "" "" "" "" "" "" "00314237" "" "" "" "2" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 265 "{{individualid}}" "{{diseaseid}}" "00035635" "00198" "00035642" "00198" "00035644" "00198" "00035646" "00198" "00035650" "00198" "00035653" "00198" "00035655" "00198" "00035656" "00198" "00035657" "00198" "00035658" "00198" "00035659" "00198" "00035661" "00198" "00035662" "00198" "00035663" "00198" "00035666" "00198" "00035667" "00198" "00080928" "01666" "00117928" "01948" "00117929" "01948" "00153053" "04312" "00163650" "00026" "00211198" "04312" "00211199" "04312" "00211200" "04312" "00211201" "04312" "00211202" "04312" "00211203" "04312" "00211204" "04312" "00211205" "04312" "00211206" "04312" "00211207" "04312" "00211208" "04312" "00211209" "04312" "00211210" "04312" "00211211" "04312" "00211212" "04312" "00211213" "04312" "00211214" "04312" "00211215" "04312" "00211216" "04312" "00211217" "04312" "00211218" "04312" "00211219" "04312" "00211220" "04312" "00211221" "04312" "00211222" "04312" "00211223" "04312" "00211224" "04312" "00211225" "04312" "00211226" "04312" "00211227" "04312" "00211228" "04312" "00211229" "04312" "00211230" "04312" "00211231" "04312" "00211232" "04312" "00211233" "04312" "00211234" "04312" "00211235" "04312" "00211236" "04312" "00211237" "04312" "00211238" "04312" "00211239" "04312" "00211240" "04312" "00211241" "04312" "00211242" "04312" "00211243" "04312" "00211244" "04312" "00211245" "04312" "00211246" "04312" "00211247" "04312" "00211248" "04312" "00211249" "04312" "00211250" "04312" "00211251" "04312" "00211252" "04312" "00211253" "04312" "00211254" "04312" "00211255" "04312" "00211256" "04312" "00211257" "00198" "00211258" "00198" "00211259" "00198" "00211260" "04312" "00211261" "04312" "00211262" "04312" "00211263" "04312" "00211264" "04312" "00211265" "00198" "00211266" "00198" "00211267" "04312" "00211268" "04312" "00211269" "04312" "00211270" "04312" "00211271" "04312" "00211272" "04312" "00211273" "04312" "00211274" "04312" "00211275" "04312" "00211276" "04312" "00211277" "04312" "00211278" "01666" "00211279" "01666" "00211280" "01666" "00211281" "04312" "00211282" "04312" "00211283" "04312" "00211284" "04312" "00211285" "04312" "00211286" "04312" "00211287" "04312" "00211288" "04312" "00211289" "04312" "00211290" "04312" "00211291" "04312" "00211292" "04312" "00211293" "04312" "00211294" "04312" "00211295" "04312" "00211296" "04312" "00211297" "04312" "00211298" "04312" "00211299" "04312" "00211300" "04312" "00211301" "04312" "00211302" "04312" "00211303" "04312" "00211304" "04312" "00211305" "04312" "00211306" "04312" "00211307" "04312" "00211308" "04312" "00211309" "04312" "00211310" "04312" "00211311" "04312" "00211312" "04312" "00211313" "04312" "00211314" "04312" "00211315" "04312" "00211316" "04312" "00211317" "04312" "00211318" "04312" "00211319" "04312" "00211320" "04312" "00211321" "04312" "00211322" "04312" "00211323" "04312" "00211324" "04312" "00211325" "04312" "00211326" "04312" "00211327" "04312" "00211328" "04312" "00211329" "04312" "00211330" "04312" "00211331" "04312" "00211332" "04312" "00211333" "04312" "00211334" "04312" "00211335" "04312" "00211336" "04312" "00211337" "04312" "00211338" "04312" "00211339" "04312" "00211340" "04312" "00211341" "04312" "00211342" "04312" "00211343" "04312" "00211344" "04312" "00211345" "04312" "00211346" "04312" "00211347" "04312" "00211348" "04312" "00211349" "04312" "00211350" "04312" "00211351" "04312" "00211352" "04312" "00211353" "04312" "00211354" "04312" "00211355" "04312" "00211356" "04312" "00211357" "04312" "00211358" "04312" "00211359" "04312" "00211360" "04312" "00211361" "04312" "00211362" "04312" "00211363" "04312" "00211364" "04312" "00211365" "04312" "00211366" "04312" "00211367" "04312" "00211368" "04312" "00211369" "04312" "00211370" "04312" "00211371" "04312" "00211372" "04312" "00211373" "04312" "00211374" "04312" "00211375" "04312" "00211376" "04312" "00211377" "04312" "00211378" "04312" "00211379" "04312" "00211380" "04312" "00211381" "04312" "00211382" "04312" "00211383" "04312" "00211384" "04312" "00211385" "04312" "00211386" "04312" "00211387" "04312" "00211388" "04312" "00211389" "04312" "00211390" "04312" "00211391" "04312" "00211392" "04312" "00211393" "04312" "00211394" "04312" "00211395" "04312" "00211396" "04312" "00211397" "04312" "00211398" "04312" "00211399" "04312" "00211400" "04312" "00211401" "04312" "00211402" "04312" "00211403" "04312" "00211404" "04312" "00211405" "04312" "00211406" "04312" "00211407" "04312" "00211408" "04312" "00211409" "04312" "00211410" "04312" "00211411" "04312" "00211412" "04312" "00211413" "04312" "00211414" "04312" "00211415" "04312" "00211416" "04312" "00211417" "04312" "00211418" "04312" "00211419" "04312" "00211420" "04312" "00211421" "04312" "00211422" "04312" "00211423" "04312" "00211424" "04312" "00211425" "04312" "00211426" "04312" "00211427" "04312" "00211428" "04312" "00211429" "04312" "00211430" "04312" "00211431" "04312" "00211432" "04312" "00211433" "00198" "00211434" "04312" "00211435" "04312" "00211436" "04312" "00293614" "00198" "00293615" "00198" "00295474" "00198" "00309729" "01948" "00314237" "05126" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 00198, 01666, 01948, 04312, 05126, 05868 ## Count = 260 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060497" "01666" "00080928" "01758" "Familial, autosomal recessive" "" "Fetal akinesia deformation sequence (OMIM:208150)" "" "" "" "" "" "" "" "" "" "" "" "0000093309" "01948" "00117928" "01802" "Familial, autosomal recessive" "" "Fatigable muscle weakness" "" "" "" "" "" "" "" "" "" "" "" "0000125774" "04312" "00153053" "00513" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" "" "0000128786" "00026" "00163650" "02440" "Familial, autosomal recessive" "" "Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347)" "" "" "" "" "" "" "" "" "Multiple pterygium syndrome, lethal type" "Fetal akinesia deformation sequence" "" "0000155729" "00198" "00207959" "01164" "Unknown" "" "HP:0002355 (Difficulty walking); HP:0001324 (Muscle weakness); HP:0003198 (Myopathy); HP:0000508 (Ptosis)" "" "" "" "" "" "" "" "" "" "" "" "0000156204" "00198" "00035635" "01164" "Unknown" "" "suspected congenital myasthenia: At the 13 year of life: Gliedergürtelbetonung, scoliosis,vital capacity restricted, dekrement path., family history:sister (55) affected" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156205" "00198" "00035642" "01164" "Unknown" "" "suspected congenital myasthenia: At the 13 year of life: Gliedergürtelbetonung, scoliosis,vital capacity restricted, , family history:sister (55) affected" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156206" "00198" "00035644" "01164" "Familial" "" "congenital myasthenia and stridor (tracheostomy), percutaneous endoscopic gastrostomy tube, bad general condition during infection" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" "" "0000156207" "00198" "00035646" "01164" "Unknown" "" "suspected CMS; pronounced fatigue, hypotonia, ptosis" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156208" "00198" "00035650" "01164" "Unknown" "" "suspected congenital myasthenia: At the 13 year of life: Gliedergürtelbetonung, scoliosis,vital capacity restricted, dekrement path., family history:sister (55) affected" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156209" "00198" "00035653" "01164" "Unknown" "" "suspected CMS: since delivery hypotonia, myasthenia, progressive fatiguability and weakness over the day, pulmonary infections, acute bronchitis" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156210" "00198" "00035655" "01164" "Unknown" "" "suspected CMS" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156211" "00198" "00035656" "01164" "Unknown" "" "suspected CMS" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156212" "00198" "00035657" "01164" "Unknown" "" "MGZ #54944: congenital myasthenia with myopathy; MGZ #52428: suspected.okular myasthenia; MGZ #50904: suspected CMS;" "" "" "" "" "" "" "" "" "" "" "" "0000156213" "00198" "00035658" "01164" "Unknown" "" "suspected CMS; fatigue, hypotonia, ptosis;" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156214" "00198" "00035659" "01164" "Unknown" "" "suspected CMS; fatigue, hypotonia, ptosis" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156215" "00198" "00035661" "01164" "Unknown" "" "suspected CMS; fatigue, hypotonia, ptosis; MGZ #47782: suspected Pena-Shokeir syndrome; MGZ #52958: 2 still-born sons (6. SSM) with akinesia syndrome; (parents are cousins, consanguine also with relatives); MGZ #53591: suspected myast. Syndrome" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156216" "00198" "00035662" "01164" "Unknown" "" "deficiency of the limbs (esp. pectoral girdle); dysarthria" "" "" "" "" "" "" "" "" "" "limb deficiency" "" "0000156217" "00198" "00035663" "01164" "Unknown" "" "MGZ #48841: suspected CMS (homozy.); MGZ #50543: suspected fetal akinesia syndrome; MGZ #50338: suspected congenital myasthenia" "" "" "" "" "" "" "" "" "" "" "" "0000156218" "00198" "00035666" "01164" "Unknown" "" "suspected myasthenic syndrome" "" "" "" "" "" "" "" "" "" "myasthenic syndrome?" "" "0000156219" "00198" "00035667" "01164" "Unknown" "" "MGZ #71401: suspected fetal akinesia syndrome; MGZ #70523: suspected CMS" "" "" "" "" "" "" "" "" "" "fetal akinesia" "" "0000159680" "04312" "00211198" "00006" "Unknown" "" "" "1d" "" "feeding problems and SOB" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159681" "04312" "00211199" "00006" "Unknown" "" "" "2y" "" "difficulty walking" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159682" "04312" "00211200" "00006" "Unknown" "" "" "1y" "" "difficulty walking" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159683" "04312" "00211201" "00006" "Unknown" "" "" "01y-02y" "" "difficulty walking" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159684" "04312" "00211202" "00006" "Unknown" "" "" "9m" "" "ptosis" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159685" "04312" "00211203" "00006" "Unknown" "" "" "1d" "" "floppy infant, feeding problems" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159686" "04312" "00211204" "00006" "Unknown" "" "" "02y-03y" "" "ptosis, lordosis" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159687" "04312" "00211205" "00006" "Unknown" "" "" "1y6m" "" "difficulty walking" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159688" "04312" "00211206" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159689" "04312" "00211207" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159690" "04312" "00211208" "00006" "Unknown" "" "" "01y-02y" "" "difficulty walking" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159691" "04312" "00211209" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159692" "04312" "00211210" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159693" "04312" "00211211" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159694" "04312" "00211212" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159695" "04312" "00211213" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159696" "04312" "00211214" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159697" "04312" "00211215" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159698" "04312" "00211216" "00006" "Unknown" "" "" "12y" "48y" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159699" "04312" "00211217" "00006" "Unknown" "" "" "1d" "18y" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159700" "04312" "00211218" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159701" "04312" "00211219" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159702" "04312" "00211220" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159703" "04312" "00211221" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159704" "04312" "00211222" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159705" "04312" "00211223" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159706" "04312" "00211224" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159707" "04312" "00211225" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159708" "04312" "00211226" "00464" "Unknown" "" "in utero hypomotility" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159709" "04312" "00211227" "00464" "Unknown" "" "in utero hypomotility" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159710" "04312" "00211228" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159711" "04312" "00211229" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159712" "04312" "00211230" "00464" "Unknown" "" "in utero hypomotility" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159713" "04312" "00211231" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159714" "04312" "00211232" "00464" "Unknown" "" "severe ptosis" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159715" "04312" "00211233" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159716" "04312" "00211234" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159717" "04312" "00211235" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159718" "04312" "00211236" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159719" "04312" "00211237" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159720" "04312" "00211238" "00006" "Unknown" "" "" "2y" "42y" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159721" "04312" "00211239" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159722" "04312" "00211240" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159723" "04312" "00211241" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159724" "04312" "00211242" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159725" "04312" "00211243" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159726" "04312" "00211244" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159727" "04312" "00211245" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159728" "04312" "00211246" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159729" "04312" "00211247" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159730" "04312" "00211248" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159731" "04312" "00211249" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159732" "04312" "00211250" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159733" "04312" "00211251" "00006" "Unknown" "" "" "3y" "" "difficulty walking" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159734" "04312" "00211252" "00006" "Unknown" "" "" "05y-06y" "" "difficulty walking/running" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159735" "04312" "00211253" "00006" "Unknown" "" "" "1d" "" "floppy infant" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159736" "04312" "00211254" "00006" "Unknown" "" "" "1d" "" "floppy infant" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159737" "04312" "00211255" "00006" "Unknown" "" "" "3y" "" "difficulty walking" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159738" "04312" "00211256" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159739" "00198" "00211257" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MLGF" "" "0000159740" "00198" "00211258" "00464" "Unknown" "" "fetal akinesia deformation sequence" "" "" "" "" "" "" "" "" "" "" "" "0000159741" "00198" "00211259" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MLGF" "" "0000159742" "04312" "00211260" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159743" "04312" "00211261" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159744" "04312" "00211262" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159745" "04312" "00211263" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159746" "04312" "00211264" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159747" "00198" "00211265" "00464" "Unknown" "" "congenital onset of weakness, ptosis, limb-girdle weakness with fatigability" "" "" "" "" "" "" "" "" "" "familial limb-girdle myasthenic syndrome" "" "0000159748" "00198" "00211266" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "limb-girdle myasthenic syndrome, familial" "" "0000159749" "04312" "00211267" "00464" "Unknown" "" "bilateral ptosis; mild ophthalmoplegia, facial weakness; high-arched palate; proximal weakness worse in legs than arms; mild hip and knee contractures; waddling gait w/ in-toing" "" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159750" "04312" "00211268" "00006" "Unknown" "" "" "1y" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159751" "04312" "00211269" "00006" "Unknown" "" "" "0d" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159752" "04312" "00211270" "00006" "Unknown" "" "" "6y" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159753" "04312" "00211271" "00006" "Unknown" "" "" "5y" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159754" "04312" "00211272" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159755" "04312" "00211273" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159756" "04312" "00211274" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159757" "04312" "00211275" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159758" "04312" "00211276" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159759" "04312" "00211277" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159760" "01666" "00211278" "00006" "Isolated (sporadic)" "" "32w gestation stillborn" "" "" "" "" "" "" "" "" "FADS" "fetal akinesia deformation sequence" "" "0000159761" "01666" "00211279" "00006" "Isolated (sporadic)" "" "22w gestation miscarriage" "" "" "" "" "" "" "" "" "FADS" "fetal akinesia deformation sequence" "" "0000159762" "01666" "00211280" "00006" "Isolated (sporadic)" "" "24w gestation no movement" "" "" "" "" "" "" "" "" "FADS" "fetal akinesia deformation sequence" "" "0000159763" "04312" "00211281" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "6y" "13y" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159764" "04312" "00211282" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "1d" "11y" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159765" "04312" "00211283" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "10y" "49y" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159766" "04312" "00211284" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "1y" "58y" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159767" "04312" "00211285" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "1d" "10y" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159768" "04312" "00211286" "00006" "Unknown" "" "girdle weakness upper/lower, muscle weakness distal/axial, atrophy, no contractures, scoliosis; walk-11m; CPK normal" "2y" "" "frequent falls, Gowerís sign, respiratory distress" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159769" "04312" "00211287" "00006" "Unknown" "" "girdle weakness upper/lower, muscle weakness distal/axial, no atrophy, no contractures, scoliosis; walk-15m; CPK normal" "0d" "" "hypotonia" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159770" "04312" "00211288" "00006" "Unknown" "" "girdle weakness upper/lower, muscle weakness distal/axial, atrophy, no contractures, no scoliosis; walk-17m; CPK normal" "" "" "reduction fetal movements, neonatal respiratory failure, swallowing difficulties" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159771" "04312" "00211289" "00006" "Unknown" "" "girdle weakness upper/lower, muscle weakness distal/axial, atrophy, contractures hips, Milwaukee corset; walk-15m; CPK normal" "15m" "" "waddling gait" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159772" "04312" "00211290" "00006" "Unknown" "" "girdle weakness upper/lower, muscle weakness distal/axial, no atrophy, no contractures, Milwaukee corset; walk-18m; CPK normal" "" "" "hypotonia, congenital scoliosis, torticollis" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159773" "04312" "00211291" "00006" "Unknown" "" "girdle weakness upper/lower, muscle weakness distal/axial, atrophy, no contractures, Milwaukee corset, arthrodesis; walk-18m;" "0d" "" "hypotonia" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159774" "04312" "00211292" "00006" "Unknown" "" "girdle weakness upper>lower, muscle weakness distal, no atrophy, no contractures, no scoliosis; walk-15m; CPK raised 1.5x" "15m" "" "weakness, frequent falls" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159775" "04312" "00211293" "00006" "Unknown" "" "girdle weakness upper/lower, muscle weakness distal/axial, atrophy, no contractures, scoliosis; walk-12m; CPK normal" "15m" "" "neck weakness" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159776" "04312" "00211294" "00006" "Unknown" "" "girdle weakness upper>lower, muscle weakness axial, no atrophy, no contractures, scoliosis; walk-14m; CPK normal" "7y" "" "proximal weakness lower limbs" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159777" "04312" "00211295" "00006" "Unknown" "" "girdle weakness upper/lower, muscle weakness distal/axial, atrophy, contractures fingers/flexors/hips, no scoliosis; walk-18m; CPK normal" "0d" "" "hypotonia, stridor, swallowing difficulties" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159778" "04312" "00211296" "00006" "Unknown" "" "girdle weakness upper/lower, muscle weakness distal/axial, no atrophy, no contractures, arthrodesis; walk-16m; CPK normal" "<2y6m" "" "weakness, ptosis, bulbar symptoms" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159779" "04312" "00211297" "00006" "Unknown" "" "girdle weakness upper/lower, muscle weakness distal/axial, no atrophy, no contractures, scoliosis; walk-13m; CPK normal" "0d" "" "stridor, neonatal respiratory distress" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159780" "04312" "00211298" "00006" "Unknown" "" "girdle weakness upper>lower, muscle weakness distal/axial, no atrophy, no contractures, no scoliosis; walk-10m; CPK raised 1.5x" "10m" "" "frequent falls" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159781" "04312" "00211299" "00006" "Unknown" "" "girdle weakness Lower>upper, muscle weakness axial?, no atrophy, no contractures, no scoliosis; walk-12m; CPK normal" "13y" "" "weakness, Gowerís sign, ptosis" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159782" "04312" "00211300" "00006" "Unknown" "" "girdle weakness Lower>upper, muscle weakness axial, no atrophy, contractures knee, no scoliosis; walk-12m; CPK normal" "5y" "" "weakness, Gowerís sign" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159783" "04312" "00211301" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "0d" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159784" "04312" "00211302" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "3y" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159785" "04312" "00211303" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "21y" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159786" "04312" "00211304" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "13y" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159787" "04312" "00211305" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "0d" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159788" "04312" "00211306" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "0d" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159789" "04312" "00211307" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "3y" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159790" "04312" "00211308" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "3y" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159791" "04312" "00211309" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "0d" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159792" "04312" "00211310" "00006" "Unknown" "" "treated with ephedrine (Schara 2009)" "0d" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159793" "04312" "00211311" "00006" "Unknown" "" "poor feeding" "0d" "10y" "stridor, intubated; poor feeding" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159794" "04312" "00211312" "00006" "Unknown" "" "poor breast feeding, bottle fed" "0d" "5y10m" "stridor; poor breast feeding, bottle fed" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159795" "04312" "00211313" "00006" "Unknown" "" "poor feeding" "0d" "5y5m" "stridor, intubated; poor feeding" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159796" "04312" "00211314" "00006" "Unknown" "" "poor feeding, mutation analysis sib" "0d" "5y6m" "stridor, intubated; poor feeding, mutation analysis sib" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159797" "04312" "00211315" "00006" "Unknown" "" "" "0d" "4y4m" "poor breast feeding, bottle fed" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159798" "04312" "00211316" "00006" "Unknown" "" "poor feeding" "0d" "3y9m" "stridor, intubated; poor feeding" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159799" "04312" "00211317" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159800" "04312" "00211318" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159801" "04312" "00211319" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159802" "04312" "00211320" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159803" "04312" "00211321" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159804" "04312" "00211322" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159805" "04312" "00211323" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159806" "04312" "00211324" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159807" "04312" "00211325" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159808" "04312" "00211326" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159809" "04312" "00211327" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159810" "04312" "00211328" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159811" "04312" "00211329" "00513" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159812" "04312" "00211330" "00511" "Familial, autosomal recessive" "" "" "15y" "" "" "" "" "" "" "" "CMS-10" "congenitnal myasthenic syndrome" "" "0000159813" "04312" "00211331" "00006" "Isolated (sporadic)" "" "ptosis, fatigued on walking, frequent falls, feeding problems, waddling gait; 5y-RNS abnormal neuromuscular transmission; 10y-thoracolumbar scoliosis; 13y-spinal brace; walk-12m" "0d" "" "stridor (bilateral vocal cord paralysis), feeding difficulties, weakness" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159814" "04312" "00211332" "00006" "Isolated (sporadic)" "" "developmental milestones normal, fatiguable weakness, difficulty running, frequent falls, fatiguable ptosis bilateral, RNS abnormal neuromuscular transmission; walk-18m" "0d" "" "stridor, feeding difficulties" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159815" "04312" "00211333" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159816" "04312" "00211334" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159817" "04312" "00211335" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159818" "04312" "00211336" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159819" "04312" "00211337" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159820" "04312" "00211338" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159821" "04312" "00211339" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159822" "04312" "00211340" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159823" "04312" "00211341" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159824" "04312" "00211342" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159825" "04312" "00211343" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159826" "04312" "00211344" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159827" "04312" "00211345" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159828" "04312" "00211346" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159829" "04312" "00211347" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159830" "04312" "00211348" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159831" "04312" "00211349" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159832" "04312" "00211350" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159833" "04312" "00211351" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159834" "04312" "00211352" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159835" "04312" "00211353" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159836" "04312" "00211354" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159837" "04312" "00211355" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159838" "04312" "00211356" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159839" "04312" "00211357" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" "myasthenic syndrome, congenital" "" "0000159840" "04312" "00211358" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-10" 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"0000035737" "DOK7" "0000035738" "DOK7" "0000035739" "DOK7" "0000035740" "DOK7" "0000081040" "DOK7" "0000153915" "CHRNB1" "0000164515" "CHRNA1" "0000164515" "CHRNB1" "0000164515" "CHRND" "0000164515" "CHRNE" "0000164515" "CHRNG" "0000164515" "CNTN1" "0000164515" "DOK7" "0000164515" "KLHL40" "0000164515" "MTM1" "0000164515" "MUSK" "0000164515" "NALCN" "0000164515" "RAPSN" "0000164515" "UBA1" "0000212274" "DOK7" "0000212275" "DOK7" "0000212276" "DOK7" "0000212277" "DOK7" "0000212278" "DOK7" "0000212279" "DOK7" "0000212280" "DOK7" "0000212281" "DOK7" "0000212282" "DOK7" "0000212283" "DOK7" "0000212284" "DOK7" "0000212285" "DOK7" "0000212286" "DOK7" "0000212287" "DOK7" "0000212288" "DOK7" "0000212289" "DOK7" "0000212290" "DOK7" "0000212291" "DOK7" "0000212292" "DOK7" "0000212293" "DOK7" "0000212294" "DOK7" "0000212295" "DOK7" "0000212296" "DOK7" "0000212297" "DOK7" "0000212298" "DOK7" "0000212299" "DOK7" "0000212300" "DOK7" "0000212301" "DOK7" "0000212302" "DOK7" "0000212303" "DOK7" "0000212304" "DOK7" "0000212305" "DOK7" "0000212306" "DOK7" "0000212307" "DOK7" "0000212308" "DOK7" "0000212309" "DOK7" "0000212310" "DOK7" "0000212311" "DOK7" "0000212312" "DOK7" "0000212313" "DOK7" "0000212314" "DOK7" "0000212315" "DOK7" "0000212316" "DOK7" "0000212317" "DOK7" "0000212318" "DOK7" "0000212319" "DOK7" "0000212320" "DOK7" "0000212321" "DOK7" "0000212322" "DOK7" "0000212323" "DOK7" "0000212324" "DOK7" "0000212325" "DOK7" "0000212326" "DOK7" "0000212327" "DOK7" "0000212328" "DOK7" "0000212329" "DOK7" "0000212330" "DOK7" "0000212331" "DOK7" "0000212332" "DOK7" "0000212333" "DOK7" "0000212334" "DOK7" "0000212335" "DOK7" "0000212336" "DOK7" "0000212337" "DOK7" "0000212338" "DOK7" "0000212339" "DOK7" "0000212340" "DOK7" "0000212341" "DOK7" "0000212342" "DOK7" "0000212343" "DOK7" "0000212344" "DOK7" "0000212345" "DOK7" "0000212346" "DOK7" "0000212347" "DOK7" "0000212348" "DOK7" "0000212349" "DOK7" "0000212350" "DOK7" "0000212351" "DOK7" "0000212352" "DOK7" "0000212353" "DOK7" "0000212354" "DOK7" "0000212355" "DOK7" "0000212356" "DOK7" "0000212357" "DOK7" "0000212358" "DOK7" "0000212359" "DOK7" "0000212360" "DOK7" "0000212361" "DOK7" "0000212362" "DOK7" "0000212363" "DOK7" "0000212364" "DOK7" "0000212365" "DOK7" "0000212366" "DOK7" "0000212367" "DOK7" "0000212368" "DOK7" "0000212369" "DOK7" "0000212370" "DOK7" "0000212371" "DOK7" "0000212372" "DOK7" "0000212373" "DOK7" "0000212374" "DOK7" "0000212375" "DOK7" "0000212376" "DOK7" "0000212377" "DOK7" "0000212378" "DOK7" "0000212379" "DOK7" "0000212380" "DOK7" "0000212381" "DOK7" "0000212382" "DOK7" "0000212383" "DOK7" "0000212384" "DOK7" "0000212385" "DOK7" "0000212386" "DOK7" "0000212387" "DOK7" "0000212388" "DOK7" "0000212389" "DOK7" "0000212390" "DOK7" "0000212391" "DOK7" "0000212392" "DOK7" "0000212393" "DOK7" "0000212394" "DOK7" "0000212395" "DOK7" "0000212396" "DOK7" "0000212397" "DOK7" "0000212398" "DOK7" "0000212399" "DOK7" "0000212400" "DOK7" "0000212401" "DOK7" "0000212402" "DOK7" "0000212403" "DOK7" "0000212404" "DOK7" "0000212405" "DOK7" "0000212406" "DOK7" "0000212407" "DOK7" "0000212408" "DOK7" "0000212409" "DOK7" "0000212410" "DOK7" "0000212411" "DOK7" "0000212412" "DOK7" "0000212413" "DOK7" "0000212414" "DOK7" "0000212415" "DOK7" "0000212416" "DOK7" "0000212417" "DOK7" "0000212418" "DOK7" "0000212419" "DOK7" "0000212420" "DOK7" "0000212421" "DOK7" "0000212422" "DOK7" "0000212423" "DOK7" "0000212424" "DOK7" "0000212425" "DOK7" "0000212426" "DOK7" "0000212427" "DOK7" "0000212428" "DOK7" "0000212429" "DOK7" "0000212430" "DOK7" "0000212431" "DOK7" "0000212432" "DOK7" "0000212433" "DOK7" "0000212434" "DOK7" "0000212435" "DOK7" "0000212436" "DOK7" "0000212437" "DOK7" "0000212438" "DOK7" "0000212439" "DOK7" "0000212440" "DOK7" "0000212441" "DOK7" "0000212442" "DOK7" "0000212443" "DOK7" "0000212444" "DOK7" "0000212445" "DOK7" "0000212446" "DOK7" "0000212447" "DOK7" "0000212448" "DOK7" "0000212449" "DOK7" "0000212450" "DOK7" "0000212451" "DOK7" "0000212452" "DOK7" "0000212453" "DOK7" "0000212454" "DOK7" "0000212455" "DOK7" "0000212456" "DOK7" "0000212457" "DOK7" "0000212458" "DOK7" "0000212459" "DOK7" "0000212460" "DOK7" "0000212461" "DOK7" "0000212462" "DOK7" "0000212463" "DOK7" "0000212464" "DOK7" "0000212465" "DOK7" "0000212466" "DOK7" "0000212467" "DOK7" "0000212468" "DOK7" "0000212469" "DOK7" "0000212470" "DOK7" "0000212471" "DOK7" "0000212472" "DOK7" "0000212473" "DOK7" "0000212474" "DOK7" "0000212475" "DOK7" "0000212476" "DOK7" "0000212477" "DOK7" "0000212478" "DOK7" "0000212479" "DOK7" "0000212480" "DOK7" "0000212481" "DOK7" "0000212482" "DOK7" "0000212483" "DOK7" "0000212484" "DOK7" "0000212485" "DOK7" "0000212486" "DOK7" "0000212487" "DOK7" "0000212488" "DOK7" "0000212489" "DOK7" "0000212490" "DOK7" "0000212491" "DOK7" "0000212492" "DOK7" "0000212493" "DOK7" "0000212494" "DOK7" "0000212495" "DOK7" "0000212496" "DOK7" "0000212497" "DOK7" "0000212498" "DOK7" "0000212499" "DOK7" "0000212500" "DOK7" "0000212501" "DOK7" "0000212502" "DOK7" "0000212503" "DOK7" "0000212504" "DOK7" "0000212505" "DOK7" "0000212506" "DOK7" "0000212507" "DOK7" "0000212508" "DOK7" "0000212509" "DOK7" "0000212510" "DOK7" "0000212511" "DOK7" "0000212512" "DOK7" "0000310874" "DOK7" "0000315410" "DOK7" ## 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 = 555 "{{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}}" "0000062830" "1" "10" "4" "3496205" "3496205" "subst" "0" "01164" "DOK7_000131" "g.3496205C>T" "" "" "" "" "c.1124_1127dupTGCC" "Germline" "" "rs75649328" "0" "" "" "g.3494478C>T" "" "benign" "" "0000062831" "1" "50" "4" "3475166" "3475166" "subst" "0.00546874" "01164" "DOK7_000026" "g.3475166C>T" "" "" "" "" "" "Germline" "" "rs62272670" "0" "" "" "g.3473439C>T" "" "VUS" "" "0000062832" "1" "10" "4" "3478031" "3478031" "subst" "0.000487684" "01164" "DOK7_000111" "g.3478031G>A" "" "" "" "" "" "Germline" "" "rs115931214" "0" "" "" "g.3476304G>A" "" "benign" "" "0000062833" "1" "10" "4" "3496058" "3496058" "subst" "0" "01164" "DOK7_000128" "g.3496058C>T" "" "" "" "" "" "Germline" "" "rs2252054" "0" "" "" "g.3494331C>T" "" "benign" "" "0000062834" "1" "10" "4" "3478045" "3478045" "subst" "0.000796368" "01164" "DOK7_000112" "g.3478045C>A" "" "" "" "" "" "Germline" "" "rs112637134" "0" "" "" "g.3476318C>A" "" "benign" "" "0000062835" "1" "10" "4" "3478019" "3478019" "subst" "0.000585325" "01164" "DOK7_000106" "g.3478019T>C" "" "" "" "" "" "Germline" "" "rs114112298" "0" "" "" "g.3476292T>C" "" "benign" "" "0000062836" "1" "10" "4" "3478030" "3478030" "subst" "0.00056738" "01164" "DOK7_000108" "g.3478030T>C" "" "" "" "" "" "Germline" "" "rs114948213" "0" "" "" "g.3476303T>C" "" "benign" "" "0000062837" "1" "10" "4" "3496150" "3496150" "subst" "0" "01164" "DOK7_000130" "g.3496150A>G" "" "" "" "" "" "Germline" "" "rs1054662" "0" "" "" "g.3494423A>G" "" "benign" "" "0000062838" "1" "10" "4" "3475107" "3475107" "subst" "0.12681" "01164" "DOK7_000133" "g.3475107G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3473380G>A" "" "benign" "" "0000062839" "1" "90" "4" "3487329" "3487329" "del" "0.00000827993" "01164" "DOK7_000013" "g.3487329del" "" "" "" "" "c.1124_1127dupTGCC" "Germline" "" "" "0" "" "" "g.3485602del" "" "pathogenic" "" "0000062840" "1" "10" "4" "3494804" "3494804" "subst" "0.00139101" "01164" "DOK7_000122" "g.3494804G>A" "" "" "" "" "" "Germline" "" "rs201304841" "0" "" "" "g.3493077G>A" "" "benign" "" "0000062841" "1" "10" "4" "3478013" "3478013" "delins" "0" "01164" "DOK7_000105" "g.3478013delinsAT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3476286delinsAT" "" "benign" "" "0000062842" "1" "10" "4" "3494956" "3494956" "subst" "0.0527867" "01164" "DOK7_000098" "g.3494956C>T" "frequency up to 0,033%" "" "" "" "" "Germline" "" "rs16844464" "0" "" "" "g.3493229C>T" "" "benign" "" "0000062843" "1" "10" "4" "3494898" "3494898" "subst" "0.231402" "01164" "DOK7_000090" "g.3494898C>T" "frequency 0.1-0.6%" "" "" "" "" "Germline" "" "rs6850908" "0" "" "" "g.3493171C>T" "" "benign" "" "0000062844" "1" "10" "4" "3494847" "3494847" "subst" "0.221782" "01164" "DOK7_000089" "g.3494847G>A" "frequency 0.1-0.6%" "" "" "" "" "Germline" "" "rs6831659" "0" "" "" "g.3493120G>A" "" "benign" "" "0000062845" "1" "10" "4" "3496110" "3496110" "subst" "0" "01164" "DOK7_000116" "g.3496110C>T" "" "" "" "" "" "Germline" "" "rs10937930" "0" "" "" "g.3494383C>T" "" "benign" "" "0000062846" "1" "10" "4" "3494826" "3494826" "subst" "0.224308" "01164" "DOK7_000088" "g.3494826A>C" "" "" "" "" "f 0,1-0,6 ((c.699A>C, p.Ser233Ser (TCA>TCC)), Exon 7" "Germline" "" "rs6811856" "0" "" "" "g.3493099A>C" "" "benign" "" "0000062847" "1" "10" "4" "3494600" "3494600" "subst" "0.231214" "01164" "DOK7_000087" "g.3494600A>G" "" "" "" "" "f:0,1->0,6, alt Gln 158Arg 53590, Exon 6" "Germline" "" "rs6811423" "0" "" "" "g.3492873A>G" "" "benign" "" "0000062848" "1" "10" "4" "3494454" "3494454" "del" "0" "01164" "DOK7_000120" "g.3494454del" "" "" "" "" "" "Germline" "" "rs67004955" "0" "" "" "g.3492727del" "" "benign" "" "0000062849" "1" "10" "4" "3494430" "3494430" "subst" "0" "01164" "DOK7_000119" "g.3494430G>A" "" "" "" "" "(c.359-56G>A)" "Germline" "" "rs6830812" "0" "" "" "g.3492703G>A" "" "benign" "" "0000062850" "1" "10" "4" "3494419" "3494419" "subst" "0" "01164" "DOK7_000118" "g.3494419G>A" "" "" "" "" "" "Germline" "" "rs62272676" "0" "" "" "g.3492692G>A" "" "benign" "" "0000062851" "1" "10" "4" "3495064" "3495064" "subst" "0.0036094" "01164" "DOK7_000056" "g.3495064C>T" "frequency up to13% (Afrikans)" "" "" "" "" "Germline" "" "rs16844470" "0" "" "" "g.3493337C>T" "" "benign" "" "0000062852" "1" "10" "4" "3478020" "3478020" "subst" "0.0000421433" "01164" "DOK7_000107" "g.3478020C>T" "" "" "" "" "c.332-121_65del" "Germline" "" "" "0" "" "" "g.3476293C>T" "" "benign" "" "0000062853" "3" "10" "4" "3477987" "3477987" "subst" "0" "01164" "DOK7_000138" "g.3477987G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3476260G>A" "" "benign" "" "0000062854" "1" "10" "4" "3478000" "3478000" "subst" "0" "01164" "DOK7_000139" "g.3478000A>G" "" "" "" "" "" "Germline" "" "rs2857985" "0" "" "" "g.3476273A>G" "" "benign" "" "0000062855" "3" "10" "4" "3477957" "3477957" "subst" "0" "01164" "DOK7_000137" "g.3477957G>A" "" "" "" "" "" "Germline" "" "rs34427903" "0" "" "" "g.3476230G>A" "" "benign" "" "0000062856" "1" "10" "4" "3475390" "3475390" "subst" "0.135047" "01164" "DOK7_000136" "g.3475390G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3473663G>A" "" "benign" "" "0000062857" "1" "10" "4" "3465188" "3465189" "del" "0" "01164" "DOK7_000132" "g.3465188_3465189del" "" "" "" "" "" "Germline" "" "rs71180187" "0" "" "" "g.3463461_3463462del" "" "benign" "" "0000062858" "1" "10" "4" "3465073" "3465073" "subst" "0.112948" "01164" "DOK7_000109" "g.3465073G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3463346G>T" "" "benign" "" "0000062859" "1" "50" "4" "3491327" "3491327" "subst" "0" "01164" "DOK7_000110" "g.3491327C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3489600C>G" "" "VUS" "" "0000062860" "1" "10" "4" "3478391" "3478391" "subst" "0" "01164" "DOK7_000113" "g.3478391C>A" "frequency up to 0,01%" "" "" "" "" "Germline" "" "rs2857987" "0" "" "" "g.3476664C>A" "" "benign" "" "0000062861" "1" "10" "4" "3491504" "3491504" "subst" "0.048772" "01164" "DOK7_000081" "g.3491504G>A" "" "" "" "" "" "Germline" "" "rs59932476" "0" "" "" "g.3489777G>A" "" "benign" "" "0000062862" "1" "10" "4" "3487235" "3487235" "subst" "0.0234759" "01164" "DOK7_000114" "g.3487235A>G" "" "" "" "" "" "Germline" "" "rs181786949" "0" "" "" "g.3485508A>G" "" "benign" "" "0000062863" "1" "10" "4" "3478031" "3478031" "subst" "0.000487684" "01164" "DOK7_000111" "g.3478031G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3476304G>A" "" "benign" "" "0000062864" "1" "50" "4" "3475222" "3475222" "subst" "0" "01164" "DOK7_000053" "g.3475222G>A" "" "" "" "" "PolyPhen-2: prob. dam. (PSIC:0,995), Mut.Taster: disease causing" "Germline" "" "" "0" "" "" "g.3473495G>A" "" "VUS" "" "0000062865" "1" "10" "4" "3478030" "3478030" "subst" "0.00056738" "01164" "DOK7_000108" "g.3478030T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3476303T>C" "" "benign" "" "0000130126" "3" "70" "4" "3495226" "3495226" "subst" "0" "01758" "DOK7_000129" "g.3495226T>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.3493499T>G" "" "likely pathogenic" "ACMG" "0000194495" "0" "70" "4" "3465168" "3465179" "del" "0" "01802" "DOK7_000140" "g.3465168_3465179del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.3463441_3463452del" "" "likely pathogenic" "" "0000194496" "0" "70" "4" "3465168" "3465179" "del" "0" "01802" "DOK7_000140" "g.3465168_3465179del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.3463441_3463452del" "" "likely pathogenic" "" "0000270885" "0" "10" "4" "3494898" "3494898" "subst" "0.231402" "02326" "DOK7_000090" "g.3494898C>T" "" "" "" "DOK7(NM_173660.4):c.1185C>T (p.Y395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493171C>T" "" "benign" "" "0000270886" "0" "90" "4" "3487334" "3487334" "subst" "0.00000829359" "02326" "DOK7_000011" "g.3487334C>T" "" "" "" "DOK7(NM_173660.4):c.601C>T (p.R201*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3485607C>T" "" "pathogenic" "" "0000329845" "0" "30" "4" "3491385" "3491385" "subst" "0.0119409" "01804" "DOK7_000147" "g.3491385A>C" "" "" "" "DOK7(NM_001164673.1):c.642-19A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3489658A>C" "" "likely benign" "" "0000329846" "0" "30" "4" "3491426" "3491426" "subst" "0" "01804" "DOK7_000148" "g.3491426G>C" "" "" "" "DOK7(NM_001164673.1):c.664G>C (p.(Asp222His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3489699G>C" "" "likely benign" "" "0000329852" "0" "30" "4" "3495156" "3495156" "subst" "0.0000321966" "01804" "DOK7_000154" "g.3495156C>T" "" "" "" "DOK7(NM_001164673.1):c.*664C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493429C>T" "" "likely benign" "" "0000337826" "0" "10" "4" "3465073" "3465073" "subst" "0.112948" "02327" "DOK7_000109" "g.3465073G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3463346G>T" "" "benign" "" "0000337827" "0" "10" "4" "3465097" "3465097" "subst" "0.0149821" "02327" "DOK7_000157" "g.3465097C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3463370C>G" "" "benign" "" "0000337828" "0" "10" "4" "3475122" "3475122" "subst" "0.115924" "02327" "DOK7_000158" "g.3475122G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3473395G>A" "" "benign" "" "0000337830" "0" "10" "4" "3478051" "3478051" "subst" "0.0312988" "02327" "DOK7_000161" "g.3478051T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3476324T>C" "" "benign" "" "0000337832" "0" "10" "4" "3495283" "3495283" "subst" "0" "02327" "DOK7_000175" "g.3495283C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493556C>G" "" "benign" "" "0000337833" "0" "10" "4" "3495295" "3495295" "subst" "0" "02327" "DOK7_000176" "g.3495295C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493568C>T" "" "benign" "" "0000339903" "0" "10" "4" "3494898" "3494898" "subst" "0.231402" "02327" "DOK7_000090" "g.3494898C>T" "" "" "" "DOK7(NM_173660.4):c.1185C>T (p.Y395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493171C>T" "" "benign" "" "0000340635" "0" "10" "4" "3491504" "3491504" "subst" "0.048772" "02327" "DOK7_000081" "g.3491504G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3489777G>A" "" "benign" "" "0000340644" "0" "10" "4" "3494847" "3494847" "subst" "0.221782" "02327" "DOK7_000089" "g.3494847G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493120G>A" "" "benign" "" "0000340960" "0" "10" "4" "3494826" "3494826" "subst" "0.224308" "02327" "DOK7_000088" "g.3494826A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493099A>C" "" "benign" "" "0000341449" "0" "30" "4" "3495031" "3495031" "subst" "0.0000592671" "02327" "DOK7_000099" "g.3495031G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493304G>A" "" "likely benign" "" "0000341454" "0" "30" "4" "3495085" "3495085" "subst" "0" "02327" "DOK7_000171" "g.3495085G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493358G>A" "" "likely benign" "" "0000341676" "0" "50" "4" "3475340" "3475340" "subst" "0" "02327" "DOK7_000160" "g.3475340G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3473613G>A" "" "VUS" "" "0000342827" "0" "10" "4" "3494917" "3494917" "subst" "0.00173062" "02327" "DOK7_000167" "g.3494917C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493190C>T" "" "benign" "" "0000343982" "0" "10" "4" "3487322" "3487322" "subst" "0.00556052" "02327" "DOK7_000080" "g.3487322G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3485595G>A" "" "benign" "" "0000344385" "0" "90" "4" "3494949" "3494949" "subst" "0" "02327" "DOK7_000168" "g.3494949C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493222C>A" "" "pathogenic" "" "0000344404" "0" "50" "4" "3495189" "3495189" "subst" "0" "02327" "DOK7_000174" "g.3495189T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493462T>G" "" "VUS" "" "0000344743" "0" "10" "4" "3494600" "3494600" "subst" "0.231214" "02327" "DOK7_000087" "g.3494600A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3492873A>G" "" "benign" "" "0000345768" "0" "70" "4" "3478218" "3478218" "subst" "0.0000406696" "02327" "DOK7_000066" "g.3478218G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3476491G>A" "" "likely pathogenic" "" "0000345790" "0" "50" "4" "3478251" "3478251" "subst" "0.00000813875" "02327" "DOK7_000045" "g.3478251G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3476524G>A" "" "VUS" "" "0000346090" "0" "10" "4" "3495095" "3495095" "subst" "0.207129" "02327" "DOK7_000093" "g.3495095G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493368G>A" "" "benign" "" "0000348202" "0" "50" "4" "3478174" "3478174" "subst" "0.0000244027" "02327" "DOK7_000034" "g.3478174C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3476447C>T" "" "VUS" "" "0000348443" "0" "10" "4" "3494956" "3494956" "subst" "0.0527867" "02327" "DOK7_000098" "g.3494956C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3493229C>T" "" "benign" "" "0000355571" "1" "90" "4" "3494837" "3494840" "dup" "0" "00513" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000367739" "0" "10" "4" "3475252" "3475252" "" "0" "02440" "DOK7_000078" "g.3475252=" "0.99 controls" "" "" "" "" "Unknown" "?" "rs4325970" "0" "" "" "g.3473525C>T" "" "benign" "" "0000367740" "0" "10" "4" "3494600" "3494600" "subst" "0.231214" "02440" "DOK7_000087" "g.3494600A>G" "0.24 controls" "" "" "" "" "Unknown" "?" "rs6811423" "0" "" "" "g.3492873A>G" "" "benign" "" "0000367741" "0" "10" "4" "3494826" "3494826" "subst" "0.224308" "02440" "DOK7_000088" "g.3494826A>C" "0.24 controls" "" "" "" "" "Unknown" "?" "rs6811856" "0" "" "" "g.3493099A>C" "" "benign" "" "0000367742" "0" "10" "4" "3494847" "3494847" "subst" "0.221782" "02440" "DOK7_000089" "g.3494847G>A" "0.31 controls" "" "" "" "" "Unknown" "?" "rs6831659" "0" "" "" "g.3493120G>A" "" "benign" "" "0000367743" "0" "10" "4" "3494898" "3494898" "subst" "0.231402" "02440" "DOK7_000090" "g.3494898C>T" "0.27 controls" "" "" "" "" "Unknown" "?" "rs6850908" "0" "" "" "g.3493171C>T" "" "benign" "" "0000439078" "0" "90" "4" "3494837" "3494840" "dup" "0" "01164" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "" "ACMG grading: PS3,PVS1,PM2; Beeson ; 2006. Science 313: 1975 16 of 21 patients with suspected CMS harbored 1124_1127dupTGCC (5x homozygous, 11x compound heterozygous); funct. test: 1124_1127dupTGCC impairs MuSK activity and its ability to shape the specialization of postsynaptic structures. Lozowska ; 2015. J Clin Neuromuscul Dis 17: 72 16 of 21 patients with suspected CMS harbored 1124_1127dupTGCC (5x homozygous, 11x compound heterozygous); funct. test: 1124_1127dupTGCC impairs MuSK activity and its ability to shape the specialization of postsynaptic structures." "Germline" "" "rs764365793" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "ACMG" "0000443922" "11" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443923" "21" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0004}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic" "" "0000443924" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443925" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443926" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443927" "2" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0002}" "" "1263insC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000443928" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443929" "2" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0002}" "" "1263insC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000443930" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443931" "2" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0002}" "" "1263insC" "no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000443932" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443933" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443934" "11" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443935" "21" "90" "4" "3487281" "3487284" "del" "0" "00006" "DOK7_000010" "g.3487281_3487284del" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0003}" "" "548_551delTCCT" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.3485554_3485557del" "" "pathogenic" "" "0000443936" "1" "90" "4" "3494856" "3494856" "dup" "0" "00006" "DOK7_000002" "g.3494856dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0005}" "" "1143insC" "no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3493129dup" "" "pathogenic" "" "0000443937" "2" "90" "4" "3494856" "3494856" "dup" "0" "00006" "DOK7_000002" "g.3494856dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0005}" "" "1143insC" "no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3493129dup" "" "pathogenic" "" "0000443938" "1" "90" "4" "3494856" "3494856" "dup" "0" "00006" "DOK7_000002" "g.3494856dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0005}" "" "1143insC" "" "Germline" "" "" "0" "" "" "g.3493129dup" "" "pathogenic" "" "0000443939" "2" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0004}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic" "" "0000443940" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443941" "2" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0004}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic" "" "0000443942" "21" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443943" "10" "90" "4" "3487272" "3487272" "subst" "0.000012539" "00006" "DOK7_000009" "g.3487272G>C" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0006}" "BsaHI-" "539G>C (593G>C)" "change in phosphotyrosine binding domain; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3485545G>C" "" "pathogenic" "" "0000443944" "21" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443945" "10" "90" "4" "3487272" "3487272" "subst" "0.000012539" "00006" "DOK7_000009" "g.3487272G>C" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0006}" "BsaHI-" "" "change in phosphotyrosine binding domain; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3485545G>C" "" "pathogenic" "" "0000443946" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443947" "1" "90" "4" "3494856" "3494856" "dup" "0" "00006" "DOK7_000002" "g.3494856dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0005}" "" "1143insC" "" "Germline" "" "" "0" "" "" "g.3493129dup" "" "pathogenic" "" "0000443948" "1" "90" "4" "3495091" "3495091" "dup" "0" "00006" "DOK7_000006" "g.3495091dup" "" "{PMID:Beeson 2006:16917026}" "" "1378insC" "" "Germline" "" "" "0" "" "" "g.3493364dup" "" "pathogenic" "" "0000443949" "2" "90" "4" "3495221" "3495221" "dup" "0" "00006" "DOK7_000007" "g.3495221dup" "" "{PMID:Beeson 2006:16917026}" "" "1508insC" "" "Germline" "" "" "0" "" "" "g.3493494dup" "" "pathogenic" "" "0000443950" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443951" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0002}" "" "1263insC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000443952" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443953" "1" "90" "4" "3495074" "3495087" "del" "0" "00006" "DOK7_000005" "g.3495074_3495087del" "" "{PMID:Beeson 2006:16917026}" "" "1357_1370del14" "" "Germline" "" "" "0" "" "" "g.3493347_3493360del" "" "pathogenic" "" "0000443954" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443955" "1" "90" "4" "3475132" "3475132" "subst" "0" "00006" "DOK7_000008" "g.3475132G>C" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0008}" "" "IVS2-1G>T" "" "Germline" "" "" "0" "" "" "g.3473405G>C" "" "pathogenic" "" "0000443956" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Schara 2009:19837590}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443957" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Schara 2009:19837590}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443958" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Schara 2009:19837590}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443959" "1" "90" "4" "3487334" "3487334" "subst" "0.00000829359" "00006" "DOK7_000011" "g.3487334C>T" "" "{PMID:Beeson 2006:16917026}, {PMID:Schara 2009:19837590}, {OMIM610285:0007}" "" "" "no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3485607C>T" "" "pathogenic" "" "0000443960" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443961" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443962" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443963" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {PMID:Palace 2007:17452375}, {OMIM610285:0001}" "" "1124_1127dupTGCC" "not in 204 control chromosomes" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443964" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443965" "1" "90" "4" "3487329" "3487329" "del" "0.00000827993" "00464" "DOK7_000013" "g.3487329del" "" "{PMID:Selcen 2008:18626973}" "" "596delT" "" "Germline" "" "" "0" "" "" "g.3485602del" "" "pathogenic" "" "0000443966" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443967" "1" "90" "4" "3465181" "3465195" "del" "0" "00464" "DOK7_000014" "g.3465181_3465195del" "" "{PMID:Selcen 2008:18626973}" "" "54+14_+28delGGGGGGGGGGGGCGC" "intron 1 inclusion; not in 200 control chromosomes; intron 1 inclusion 100 control cDNAs" "Germline" "" "" "0" "" "" "g.3463454_3463468del" "" "pathogenic" "" "0000443968" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443969" "1" "90" "4" "3494976" "3494976" "del" "0" "00464" "DOK7_000015" "g.3494976del" "" "{PMID:Selcen 2008:18626973}" "" "1263delC" "" "Germline" "" "" "0" "" "" "g.3493249del" "" "pathogenic" "" "0000443970" "1" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443971" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443972" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443973" "1" "90" "4" "3465181" "3465195" "del" "0" "00464" "DOK7_000014" "g.3465181_3465195del" "" "{PMID:Selcen 2008:18626973}" "" "54+14_+28delGGGGGGGGGGGGCGC" "intron 1 inclusion; not in 200 control chromosomes; intron 1 inclusion 100 control cDNAs" "Germline" "" "" "0" "" "" "g.3463454_3463468del" "" "pathogenic" "" "0000443974" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443975" "1" "90" "4" "3487334" "3487334" "subst" "0.00000829359" "00464" "DOK7_000011" "g.3487334C>T" "" "{PMID:Selcen 2008:18626973}" "" "601C>T" "" "Germline" "" "" "0" "" "" "g.3485607C>T" "" "pathogenic" "" "0000443976" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443977" "1" "90" "4" "3494976" "3494976" "dup" "0" "00464" "DOK7_000003" "g.3494976dup" "" "{PMID:Selcen 2008:18626973}" "" "1263insC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000443978" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443979" "1" "90" "4" "3465231" "3465231" "subst" "0" "00464" "DOK7_000016" "g.3465231A>C" "" "{PMID:Selcen 2008:18626973}" "" "IVS1-2A>C" "" "Germline" "" "" "0" "" "" "g.3463504A>C" "" "pathogenic" "" "0000443980" "1" "90" "4" "3470206" "3493005" "del" "0" "00464" "DOK7_000012" "g.(3465279_3475132)_(3491524_3494485)del" "" "{PMID:Selcen 2008:18626973}" "" "101_652del" "reported as 101_652del (corrected after contact with authors); absence exon 3-6 91% cDNA clones; not in 100 control cDNAs" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000443981" "2" "90" "4" "3494714" "3494724" "dup" "0" "00464" "DOK7_000020" "g.3494714_3494724dup" "" "{PMID:Selcen 2008:18626973}" "" "1001_1011dup" "" "Germline" "" "" "0" "" "" "g.3492987_3492997dup" "" "pathogenic" "" "0000443982" "2" "90" "4" "0" "0" "" "0" "00464" "DOK7_000000" "g.?" "" "{PMID:Selcen 2008:18626973}" "" "55_100del" "increased exon 2 skipping (not observed in 100 controls); no changes in introns 2+3" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000443983" "1" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "1124_1127dupTGCC" "r.1124_1127dup in 25/79 cDNA clones, r.1124_1127dup+ex02 skip in 7/79" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443984" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443985" "1" "90" "4" "3494950" "3494950" "dup" "0" "00464" "DOK7_000017" "g.3494950dup" "" "{PMID:Selcen 2008:18626973}" "" "1236insC" "" "Germline" "" "" "0" "" "" "g.3493223dup" "" "pathogenic" "" "0000443986" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "1124_1127dupTGCC" "5/42 cDNA clones" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443987" "1" "90" "4" "3475364" "3475364" "subst" "0" "00464" "DOK7_000018" "g.3475364G>T" "" "{PMID:Selcen 2008:18626973}" "" "IVS3+1G>T" "unique exon 3 skip, not observed in 100 control cDNAs" "Germline" "" "" "0" "" "" "g.3473637G>T" "" "pathogenic" "" "0000443988" "1" "90" "4" "3495226" "3495226" "subst" "0" "00464" "DOK7_000019" "g.3495226T>C" "" "{PMID:Selcen 2008:18626973}" "" "1513T>C" "" "Germline" "" "" "0" "" "" "g.3493499T>C" "" "pathogenic" "" "0000443989" "2" "90" "4" "3494852" "3494854" "delins" "0" "00464" "DOK7_000021" "g.3494852_3494854delinsA" "" "{PMID:Selcen 2008:18626973}" "" "1139_1141delinsA" "" "Germline" "" "" "0" "" "" "g.3493125_3493127delinsA" "" "pathogenic" "" "0000443990" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443991" "1" "90" "4" "3495091" "3495091" "dup" "0" "00464" "DOK7_000006" "g.3495091dup" "" "{PMID:Selcen 2008:18626973}" "" "1378insC" "" "Germline" "" "" "0" "" "" "g.3493364dup" "" "pathogenic" "" "0000443992" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443993" "1" "90" "4" "3494950" "3494950" "dup" "0" "00464" "DOK7_000017" "g.3494950dup" "" "{PMID:Selcen 2008:18626973}" "" "1236insC" "" "Germline" "" "" "0" "" "" "g.3493223dup" "" "pathogenic" "" "0000443994" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443995" "1" "90" "4" "3494950" "3494950" "dup" "0" "00464" "DOK7_000017" "g.3494950dup" "" "{PMID:Selcen 2008:18626973}" "" "1236insC" "" "Germline" "" "" "0" "" "" "g.3493223dup" "" "pathogenic" "" "0000443996" "21" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443997" "11" "90" "4" "3478133" "3478133" "subst" "0" "00006" "DOK7_000022" "g.3478133C>G" "" "{PMID:Muller 2007:17439981}" "" "396C>G" "" "Germline" "" "" "0" "" "" "g.3476406C>G" "" "pathogenic" "" "0000443998" "11" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000443999" "21" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444000" "1" "90" "4" "3487288" "3487288" "del" "0" "00006" "DOK7_000023" "g.3487288del" "" "{PMID:Muller 2007:17439981}, {PMID:Schara 2009:19837590}" "" "555delC" "" "Germline" "" "" "0" "" "" "g.3485561del" "" "pathogenic" "" "0000444001" "2" "90" "4" "3495009" "3495024" "del" "0" "00006" "DOK7_000024" "g.3495009_3495024del" "" "{PMID:Muller 2007:17439981}, {PMID:Schara 2009:19837590}" "" "1296_1311del16" "" "Germline" "" "" "0" "" "" "g.3493282_3493297del" "" "pathogenic" "" "0000444002" "21" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444003" "11" "90" "4" "3465276" "3465276" "subst" "0" "00006" "DOK7_000025" "g.3465276C>T" "" "{PMID:Muller 2007:17439981}" "" "98G>A" "variant probably reported on wrong strand" "Germline" "" "" "0" "" "" "g.3463549C>T" "" "pathogenic" "" "0000444004" "11" "90" "4" "3494837" "3494840" "dup" "0" "00513" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444005" "21" "90" "4" "3475166" "3475166" "subst" "0.00546874" "00513" "DOK7_000026" "g.3475166C>T" "" "{PMID:Muller 2007:17439981}" "" "134C>T" "" "Germline" "" "" "0" "" "" "g.3473439C>T" "" "pathogenic" "" "0000444006" "11" "90" "4" "3475166" "3475166" "subst" "0.00546874" "00513" "DOK7_000026" "g.3475166C>T" "" "{PMID:Muller 2007:17439981}" "" "134C>T" "" "Germline" "" "" "0" "" "" "g.3473439C>T" "" "pathogenic" "" "0000444007" "21" "90" "4" "3495119" "3495119" "subst" "0.000367999" "00513" "DOK7_000027" "g.3495119C>A" "" "{PMID:Muller 2007:17439981}" "" "1406C>A" "" "Germline" "" "" "0" "" "" "g.3493392C>A" "" "pathogenic" "" "0000444008" "21" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444009" "11" "90" "4" "3478133" "3478133" "subst" "0" "00006" "DOK7_000022" "g.3478133C>G" "" "{PMID:Muller 2007:17439981}" "" "396C>G" "" "Germline" "" "" "0" "" "" "g.3476406C>G" "" "pathogenic" "" "0000444010" "1" "90" "4" "3495091" "3495091" "dup" "0" "00006" "DOK7_000006" "g.3495091dup" "" "{PMID:Muller 2007:17439981}" "" "1378insC" "" "Germline" "" "" "0" "" "" "g.3493364dup" "" "pathogenic" "" "0000444011" "2" "90" "4" "3495221" "3495221" "dup" "0" "00006" "DOK7_000007" "g.3495221dup" "" "{PMID:Muller 2007:17439981}" "" "1508insC" "" "Germline" "" "" "0" "" "" "g.3493494dup" "" "pathogenic" "" "0000444012" "21" "90" "4" "3494837" "3494840" "dup" "0" "00513" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444013" "11" "90" "4" "3494976" "3494976" "dup" "0" "00513" "DOK7_000003" "g.3494976dup" "" "{PMID:Muller 2007:17439981}" "" "1263insC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000444014" "1" "90" "4" "3494837" "3494840" "dup" "0" "00513" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444015" "2" "90" "4" "3495074" "3495087" "del" "0" "00513" "DOK7_000005" "g.3495074_3495087del" "" "{PMID:Muller 2007:17439981}" "" "1357_1370del14" "" "Germline" "" "" "0" "" "" "g.3493347_3493360del" "" "pathogenic" "" "0000444016" "21" "90" "4" "3494837" "3494840" "dup" "0" "00513" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444017" "10" "90" "4" "3475132" "3475132" "subst" "0" "00513" "DOK7_000029" "g.3475132G>T" "" "{PMID:Muller 2007:17439981}" "" "IVS2-1G>T" "exon trap cloning suggests ex3 skipping" "Germline" "" "" "0" "" "" "g.3473405G>T" "" "pathogenic" "" "0000444018" "11" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444019" "21" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444020" "2" "90" "4" "3494837" "3494840" "dup" "0" "00513" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444021" "1" "90" "4" "3487334" "3487334" "subst" "0.00000829359" "00513" "DOK7_000011" "g.3487334C>T" "" "{PMID:Muller 2007:17439981}" "" "601C>T" "" "Germline" "" "" "0" "" "" "g.3485607C>T" "" "pathogenic" "" "0000444022" "11" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444023" "21" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Muller 2007:17439981}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444024" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Palace 2007:17452375}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444025" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Palace 2007:17452375}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444026" "1" "90" "4" "3487272" "3487272" "subst" "0.000012539" "00006" "DOK7_000009" "g.3487272G>C" "" "{PMID:Palace 2007:17452375}" "" "593G>C" "variant probably erroneously reported as 593G>C" "Germline" "" "" "0" "" "" "g.3485545G>C" "" "pathogenic" "" "0000444027" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Palace 2007:17452375}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444028" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Palace 2007:17452375}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444029" "21" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Palace 2007:17452375}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444030" "11" "90" "4" "3478210" "3478210" "subst" "0.00000406709" "00006" "DOK7_000038" "g.3478210G>A" "" "{PMID:Palace 2007:17452375}" "BpmI+" "" "" "Germline" "" "" "0" "" "" "g.3476483G>A" "" "pathogenic" "" "0000444031" "1" "70" "4" "3494607" "3494607" "dup" "0" "00464" "DOK7_000030" "g.3494607dup" "" "" "" "894dupG" "" "Germline" "" "" "0" "" "" "g.3492880dup" "" "likely pathogenic" "" "0000444032" "2" "70" "4" "3495091" "3495091" "del" "0" "00464" "DOK7_000031" "g.3495091del" "" "" "" "1378delC" "" "Germline" "" "" "0" "" "" "g.3493364del" "" "likely pathogenic" "" "0000444033" "1" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444034" "2" "90" "4" "3495052" "3495055" "dup" "0" "00464" "DOK7_000004" "g.3495052_3495055dup" "" "" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic" "" "0000444035" "0" "50" "4" "3465134" "3465134" "subst" "0" "00464" "DOK7_000032" "g.3465134T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3463407T>C" "" "VUS" "" "0000444036" "0" "50" "4" "3475345" "3475345" "subst" "0.000107935" "00464" "DOK7_000033" "g.3475345C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3473618C>T" "" "VUS" "" "0000444037" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444038" "1" "50" "4" "3478174" "3478174" "subst" "0.0000244027" "00464" "DOK7_000034" "g.3478174C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3476447C>T" "" "VUS" "" "0000444039" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Srour 2010:20610155}" "" "1124_1127dupTGCC" "homozygosity mapping, founder haplotype" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444040" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Srour 2010:20610155}" "" "1124_1127dupTGCC" "homozygosity mapping, founder haplotype" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444041" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Srour 2010:20610155}" "" "1124_1127dupTGCC" "homozygosity mapping, founder haplotype" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444042" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Srour 2010:20610155}" "" "1124_1127dupTGCC" "homozygosity mapping, founder haplotype" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444043" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Srour 2010:20610155}" "" "1124_1127dupTGCC" "homozygosity mapping, founder haplotype" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444044" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Srour 2010:20610155}" "" "1124_1127dupTGCC" "homozygosity mapping, founder haplotype" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444045" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Srour 2010:20610155}" "" "1124_1127dupTGCC" "homozygosity mapping, founder haplotype" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444046" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Srour 2010:20610155}" "" "1124_1127dupTGCC" "homozygosity mapping, founder haplotype" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444047" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Srour 2010:20610155}" "" "1124_1127dupTGCC" "homozygosity mapping, founder haplotype" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444048" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Srour 2010:20610155}" "" "1124_1127dupTGCC" "homozygosity mapping, founder haplotype" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444049" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444050" "1" "70" "4" "3465181" "3465195" "del" "0" "00464" "DOK7_000014" "g.3465181_3465195del" "" "" "" "54+22_36del" "" "Germline" "" "" "0" "" "" "g.3463454_3463468del" "" "likely pathogenic" "" "0000444051" "0" "90" "4" "3494976" "3494976" "dup" "0" "00464" "DOK7_000003" "g.3494976dup" "" "" "" "1263dupC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000444052" "0" "50" "4" "3475277" "3475277" "subst" "0" "00464" "DOK7_000036" "g.3475277G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3473550G>T" "" "VUS" "" "0000444053" "0" "50" "4" "3495008" "3495008" "subst" "0.00052071" "00464" "DOK7_000037" "g.3495008G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493281G>A" "" "VUS" "" "0000444054" "1" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444055" "2" "90" "4" "3495091" "3495091" "dup" "0" "00464" "DOK7_000006" "g.3495091dup" "" "" "" "1378dupC" "" "Germline" "" "" "0" "" "" "g.3493364dup" "" "pathogenic" "" "0000444056" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Mihaylova 2010:20562457}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444057" "1" "90" "4" "3475222" "3475222" "subst" "0" "00006" "DOK7_000039" "g.3475222G>M" "" "{PMID:Mihaylova 2010:20562457}" "" "190G>A?" "" "Germline" "" "" "0" "" "" "g.3473495G>M" "" "pathogenic" "" "0000444058" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Mihaylova 2010:20562457}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444059" "1" "90" "4" "3475222" "3475222" "subst" "0" "00006" "DOK7_000039" "g.3475222G>M" "" "{PMID:Mihaylova 2010:20562457}" "" "190G>A?" "" "Germline" "" "" "0" "" "" "g.3473495G>M" "" "pathogenic" "" "0000444060" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Mihaylova 2010:20562457}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444061" "1" "90" "4" "3475166" "3475166" "subst" "0.00546874" "00006" "DOK7_000026" "g.3475166C>T" "" "{PMID:Mihaylova 2010:20562457}" "" "" "" "Germline" "" "" "0" "" "" "g.3473439C>T" "" "pathogenic" "" "0000444062" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Mihaylova 2010:20562457}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444063" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Anderson 2007:18161030}" "" "1263insC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000444064" "2" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Anderson 2007:18161030}" "" "1263insC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000444065" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Anderson 2007:18161030}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444066" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Anderson 2007:18161030}" "" "1263insC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000444067" "2" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Anderson 2007:18161030}" "" "1263insC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000444068" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Anderson 2007:18161030}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444069" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Anderson 2007:18161030}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444070" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Anderson 2007:18161030}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444071" "1" "90" "4" "3478217" "3478217" "subst" "0.00000406709" "00006" "DOK7_000040" "g.3478217C>A" "" "{PMID:Anderson 2007:18161030}" "" "" "" "Germline" "" "" "0" "" "" "g.3476490C>A" "" "pathogenic" "" "0000444072" "1" "90" "4" "3475364" "3475364" "subst" "0" "00006" "DOK7_000018" "g.3475364G>T" "" "{PMID:Vogt 2009:19261599}" "" "" "not in 378 control chromosomes" "Germline" "" "" "0" "" "" "g.3473637G>T" "" "pathogenic" "" "0000444073" "2" "90" "4" "3475364" "3475364" "subst" "0" "00006" "DOK7_000018" "g.3475364G>T" "" "{PMID:Vogt 2009:19261599}" "" "" "not in 378 control chromosomes" "Germline" "" "" "0" "" "" "g.3473637G>T" "" "pathogenic" "" "0000444074" "1" "90" "4" "3475364" "3475364" "subst" "0" "00006" "DOK7_000018" "g.3475364G>T" "" "{PMID:Vogt 2009:19261599}" "" "" "not in 378 control chromosomes" "Germline" "" "" "0" "" "" "g.3473637G>T" "" "pathogenic" "" "0000444075" "2" "90" "4" "3475364" "3475364" "subst" "0" "00006" "DOK7_000018" "g.3475364G>T" "" "{PMID:Vogt 2009:19261599}" "" "" "not in 378 control chromosomes" "Germline" "" "" "0" "" "" "g.3473637G>T" "" "pathogenic" "" "0000444076" "1" "90" "4" "3475364" "3475364" "subst" "0" "00006" "DOK7_000018" "g.3475364G>T" "" "{PMID:Vogt 2009:19261599}" "" "" "not in 378 control chromosomes" "Germline" "" "" "0" "" "" "g.3473637G>T" "" "pathogenic" "" "0000444077" "2" "90" "4" "3475364" "3475364" "subst" "0" "00006" "DOK7_000018" "g.3475364G>T" "" "{PMID:Vogt 2009:19261599}" "" "" "not in 378 control chromosomes" "Germline" "" "" "0" "" "" "g.3473637G>T" "" "pathogenic" "" "0000444078" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Schara 2009:19837590}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444079" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Schara 2009:19837590}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444080" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Schara 2009:19837590}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444081" "1" "90" "4" "3465181" "3465195" "del" "0" "00006" "DOK7_000014" "g.3465181_3465195del" "" "{PMID:Schara 2009:19837590}" "" "54+22_36del" "" "Germline" "" "" "0" "" "" "g.3463454_3463468del" "" "pathogenic" "" "0000444082" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Schara 2009:19837590}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444083" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Schara 2009:19837590}" "" "1263insC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000444084" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Schara 2009:19837590}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444085" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Schara 2009:19837590}" "" "1263insC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000444086" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Schara 2009:19837590}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444087" "1" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Schara 2009:19837590}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic" "" "0000444088" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444089" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444090" "2" "90" "4" "3478083" "3478083" "subst" "0" "00006" "DOK7_000042" "g.3478083G>A" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3476356G>A" "" "pathogenic" "" "0000444091" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444092" "2" "90" "4" "3465181" "3465195" "del" "0" "00006" "DOK7_000014" "g.3465181_3465195del" "" "{PMID:BenAmmar 2010:20012313}" "" "54+19_54+33delCGCGGGGGGGGGGGG" "intron 1 inclusion; not in 200 control chromosomes; intron 1 inclusion 100 control cDNAs" "Germline" "" "" "0" "" "" "g.3463454_3463468del" "" "pathogenic" "" "0000444093" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444094" "2" "90" "4" "3478174" "3478174" "subst" "0.0000244027" "00006" "DOK7_000034" "g.3478174C>T" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3476447C>T" "" "pathogenic" "" "0000444095" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444096" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444097" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444098" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444099" "1" "90" "4" "3491486" "3491486" "subst" "0" "00006" "DOK7_000041" "g.3491486A>G" "" "{PMID:BenAmmar 2010:20012313}" "" "" "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" "" "" "" "" "pathogenic" "" "0000444100" "2" "90" "4" "3491486" "3491486" "subst" "0" "00006" "DOK7_000041" "g.3491486A>G" "" "{PMID:BenAmmar 2010:20012313}" "" "" "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" "" "" "" "" "pathogenic" "" "0000444101" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444102" "2" "90" "4" "3487272" "3487272" "subst" "0" "00006" "DOK7_000035" "g.3487272G>T" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3485545G>T" "" "pathogenic" "" "0000444103" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444104" "2" "90" "4" "3478207" "3478207" "subst" "0" "00006" "DOK7_000043" "g.3478207T>G" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3476480T>G" "" "pathogenic" "" "0000444105" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444106" "2" "90" "4" "3478248" "3478248" "subst" "0" "00006" "DOK7_000044" "g.3478248G>C" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3476521G>C" "" "pathogenic" "" "0000444107" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444108" "2" "90" "4" "3475166" "3475166" "subst" "0.00546874" "00006" "DOK7_000026" "g.3475166C>T" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3473439C>T" "" "pathogenic" "" "0000444109" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444110" "2" "90" "4" "3478251" "3478251" "subst" "0.00000813875" "00006" "DOK7_000045" "g.3478251G>A" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3476524G>A" "" "pathogenic" "" "0000444111" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444112" "2" "90" "4" "3495148" "3495163" "del" "0" "00006" "DOK7_000046" "g.3495148_3495163del" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493421_3493436del" "" "pathogenic" "" "0000444113" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444114" "2" "90" "4" "3495148" "3495163" "del" "0" "00006" "DOK7_000046" "g.3495148_3495163del" "" "{PMID:BenAmmar 2010:20012313}" "" "" "" "Germline" "" "" "0" "" "" "g.3493421_3493436del" "" "pathogenic" "" "0000444115" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444116" "2" "90" "4" "3465181" "3465195" "del" "0" "00006" "DOK7_000014" "g.3465181_3465195del" "" "{PMID:Lashley 2010:20458068}" "" "IVS1+14del15" "" "Germline" "" "" "0" "" "" "g.3463454_3463468del" "" "pathogenic" "" "0000444117" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444118" "2" "90" "4" "3465181" "3465195" "del" "0" "00006" "DOK7_000014" "g.3465181_3465195del" "" "{PMID:Lashley 2010:20458068}" "" "IVS1+14del15" "" "Germline" "" "" "0" "" "" "g.3463454_3463468del" "" "pathogenic" "" "0000444119" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444120" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444121" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444122" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444123" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444124" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444125" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444126" "1" "90" "4" "3478210" "3478210" "subst" "0.00000406709" "00006" "DOK7_000038" "g.3478210G>A" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3476483G>A" "" "pathogenic" "" "0000444127" "1" "90" "4" "0" "0" "" "0" "00006" "DOK7_000000" "g.?" "" "{PMID:Lashley 2010:20458068}" "" "414C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000444128" "2" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic" "" "0000444129" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444130" "1" "90" "4" "3478233" "3478233" "subst" "0.0000122026" "00006" "DOK7_000047" "g.3478233G>A" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3476506G>A" "" "pathogenic" "" "0000444131" "2" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic" "" "0000444132" "1" "90" "4" "3495091" "3495091" "subst" "0" "00006" "DOK7_000048" "g.3495091C>T" "" "{PMID:Lashley 2010:20458068}" "" "" "" "Germline" "" "" "0" "" "" "g.3493364C>T" "" "pathogenic" "" "0000444133" "2" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Jephson 2010:20554332}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic" "" "0000444134" "1" "90" "4" "3495091" "3495091" "subst" "0" "00006" "DOK7_000048" "g.3495091C>T" "" "{PMID:Jephson 2010:20554332}" "" "" "" "Germline" "" "" "0" "" "" "g.3493364C>T" "" "pathogenic" "" "0000444135" "1" "90" "4" "3478152" "3478152" "subst" "0.00000406765" "00006" "DOK7_000049" "g.3478152G>C" "" "{PMID:Jephson 2010:20554332}" "" "" "" "Germline" "" "" "0" "" "" "g.3476425G>C" "" "pathogenic" "" "0000444136" "2" "90" "4" "3478152" "3478152" "subst" "0.00000406765" "00006" "DOK7_000049" "g.3478152G>C" "" "{PMID:Jephson 2010:20554332}" "" "" "" "Germline" "" "" "0" "" "" "g.3476425G>C" "" "pathogenic" "" "0000444137" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Jephson 2010:20554332}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444138" "1" "90" "4" "3495091" "3495091" "dup" "0" "00006" "DOK7_000006" "g.3495091dup" "" "{PMID:Jephson 2010:20554332}" "" "1378insC" "" "Germline" "" "" "0" "" "" "g.3493364dup" "" "pathogenic" "" "0000444139" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Jephson 2010:20554332}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444140" "1" "90" "4" "3475109" "3475173" "del" "0" "00006" "DOK7_000050" "g.3475109_3475173del" "" "{PMID:Jephson 2010:20554332}" "" "" "" "Germline" "" "" "0" "" "" "g.3473382_3473446del" "" "pathogenic" "" "0000444141" "2" "90" "4" "3487329" "3487329" "del" "0.00000827993" "00006" "DOK7_000013" "g.3487329del" "" "{PMID:Jephson 2010:20554332}" "" "596delT" "" "Germline" "" "" "0" "" "" "g.3485602del" "" "pathogenic" "" "0000444142" "1" "90" "4" "3475357" "3475357" "subst" "0" "00006" "DOK7_000051" "g.3475357G>T" "" "{PMID:Jephson 2010:20554332}" "" "" "" "Germline" "" "" "0" "" "" "g.3473630G>T" "" "pathogenic" "" "0000444143" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Jephson 2010:20554332}" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444144" "1" "90" "4" "3478233" "3478233" "subst" "0.0000122026" "00006" "DOK7_000047" "g.3478233G>A" "" "{PMID:Jephson 2010:20554332}" "" "" "" "Germline" "" "" "0" "" "" "g.3476506G>A" "" "pathogenic" "" "0000444145" "2" "90" "4" "3494837" "3494840" "dup" "0" "00513" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444146" "1" "90" "4" "3465109" "3465109" "subst" "0.000032079" "00513" "DOK7_000052" "g.3465109G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3463382G>A" "" "pathogenic" "" "0000444147" "2" "90" "4" "3494837" "3494840" "dup" "0" "00513" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444148" "1" "90" "4" "3465276" "3465276" "subst" "0" "00513" "DOK7_000025" "g.3465276C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3463549C>T" "" "pathogenic" "" "0000444149" "2" "90" "4" "3494837" "3494840" "dup" "0" "00513" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444150" "1" "90" "4" "3475222" "3475222" "subst" "0" "00513" "DOK7_000053" "g.3475222G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3473495G>A" "" "pathogenic" "" "0000444151" "2" "90" "4" "3494837" "3494840" "dup" "0" "00513" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444152" "1" "90" "4" "3478133" "3478133" "subst" "0" "00513" "DOK7_000022" "g.3478133C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3476406C>G" "" "pathogenic" "" "0000444153" "1" "90" "4" "3487288" "3487288" "del" "0" "00513" "DOK7_000023" "g.3487288del" "" "" "" "555delC" "" "Germline" "" "" "0" "" "" "g.3485561del" "" "pathogenic" "" "0000444154" "1" "90" "4" "3487294" "3487294" "del" "0" "00513" "DOK7_000054" "g.3487294del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3485567del" "" "pathogenic" "" "0000444155" "1" "90" "4" "3494670" "3494670" "del" "0" "00513" "DOK7_000055" "g.3494670del" "" "" "" "957delC" "" "Germline" "" "" "0" "" "" "g.3492943del" "" "pathogenic" "" "0000444156" "1" "90" "4" "3494976" "3494976" "del" "0" "00513" "DOK7_000015" "g.3494976del" "" "" "" "1263delC" "" "Germline" "" "" "0" "" "" "g.3493249del" "" "pathogenic" "" "0000444157" "2" "90" "4" "3494837" "3494840" "dup" "0" "00513" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444158" "1" "90" "4" "3494976" "3494976" "dup" "0" "00513" "DOK7_000003" "g.3494976dup" "" "" "" "1263dupC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic" "" "0000444159" "1" "90" "4" "3495009" "3495024" "del" "0" "00513" "DOK7_000024" "g.3495009_3495024del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493282_3493297del" "" "pathogenic" "" "0000444160" "1" "90" "4" "3495091" "3495091" "dup" "0" "00513" "DOK7_000006" "g.3495091dup" "" "" "" "1378dupC" "" "Germline" "" "" "0" "" "" "g.3493364dup" "" "pathogenic" "" "0000444161" "1" "90" "4" "3495221" "3495221" "dup" "0" "00513" "DOK7_000007" "g.3495221dup" "" "" "" "1508dupC" "" "Germline" "" "" "0" "" "" "g.3493494dup" "" "pathogenic" "" "0000444162" "1" "90" "4" "3494837" "3494840" "dup" "0" "00513" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic" "" "0000444163" "0" "90" "4" "3494837" "3494840" "dup" "0" "00511" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "1124_1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444164" "11" "90" "4" "3478152" "3478152" "subst" "0.00000406765" "00006" "DOK7_000049" "g.3478152G>C" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3476425G>C" "" "pathogenic (recessive)" "" "0000444165" "21" "90" "4" "3478152" "3478152" "subst" "0.00000406765" "00006" "DOK7_000049" "g.3478152G>C" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3476425G>C" "" "pathogenic (recessive)" "" "0000444166" "1" "90" "4" "3487329" "3487329" "del" "0.00000827993" "00006" "DOK7_000013" "g.3487329del" "" "{PMID:Cossins 2012:22661499}" "" "596delT" "" "Germline" "" "" "0" "" "" "g.3485602del" "" "pathogenic (recessive)" "" "0000444167" "1" "90" "4" "3475357" "3475357" "subst" "0" "00006" "DOK7_000051" "g.3475357G>T" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3473630G>T" "" "pathogenic (recessive)" "" "0000444168" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444169" "1" "90" "4" "3465109" "3465109" "subst" "0.000032079" "00006" "DOK7_000052" "g.3465109G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3463382G>A" "" "pathogenic (recessive)" "" "0000444170" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444171" "1" "90" "4" "3465150" "3465150" "subst" "0" "00006" "DOK7_000058" "g.3465150C>T" "" "{PMID:Cossins 2012:22661499}" "" "r.1-119del" "exon trap cloning exon skipped" "Germline" "" "" "0" "" "" "g.3463423C>T" "" "pathogenic (recessive)" "" "0000444172" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444173" "1" "90" "4" "3465150" "3465150" "subst" "0" "00006" "DOK7_000058" "g.3465150C>T" "" "{PMID:Cossins 2012:22661499}" "" "r.1-119del" "exon trap cloning exon skipped" "Germline" "" "" "0" "" "" "g.3463423C>T" "" "pathogenic (recessive)" "" "0000444174" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444175" "1" "90" "4" "3465181" "3465271" "del" "0" "00006" "DOK7_000059" "g.3465181_3465271del" "" "{PMID:Cossins 2012:22661499}" "" "54+25_39del15" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000444176" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444177" "1" "90" "4" "3465181" "3465271" "del" "0" "00006" "DOK7_000059" "g.3465181_3465271del" "" "{PMID:Cossins 2012:22661499}" "" "54+25_39del15" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000444178" "2" "90" "4" "3494856" "3494856" "dup" "0" "00006" "DOK7_000002" "g.3494856dup" "" "{PMID:Cossins 2012:22661499}" "" "1143dupC" "" "Germline" "" "" "0" "" "" "g.3493129dup" "" "pathogenic (recessive)" "" "0000444179" "1" "90" "4" "3465181" "3465271" "del" "0" "00006" "DOK7_000059" "g.3465181_3465271del" "" "{PMID:Cossins 2012:22661499}" "" "54+25_39del15" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000444180" "2" "90" "4" "3494976" "3494976" "del" "0" "00006" "DOK7_000015" "g.3494976del" "" "{PMID:Cossins 2012:22661499}" "" "1263delC" "" "Germline" "" "" "0" "" "" "g.3493249del" "" "pathogenic (recessive)" "" "0000444181" "1" "90" "4" "3465181" "3465271" "del" "0" "00006" "DOK7_000059" "g.3465181_3465271del" "" "{PMID:Cossins 2012:22661499}" "" "54+25_39del15" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000444182" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444183" "1" "90" "4" "3465269" "3465269" "subst" "0" "00006" "DOK7_000060" "g.3465269C>A" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3463542C>A" "" "pathogenic (recessive)" "" "0000444184" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444185" "1" "90" "4" "3475009" "3475173" "del" "0" "00006" "DOK7_000061" "g.3475009_3475173del" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3473282_3473446del" "" "pathogenic (recessive)" "" "0000444186" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444187" "1" "90" "4" "3475009" "3475173" "del" "0" "00006" "DOK7_000061" "g.3475009_3475173del" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3473282_3473446del" "" "pathogenic (recessive)" "" "0000444188" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444189" "1" "90" "4" "3475262" "3475262" "subst" "0.0000122748" "00006" "DOK7_000062" "g.3475262C>T" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3473535C>T" "" "pathogenic (recessive)" "" "0000444190" "2" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Cossins 2012:22661499}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic (recessive)" "" "0000444191" "1" "90" "4" "3478151" "3478151" "subst" "0.0000122029" "00006" "DOK7_000063" "g.3478151C>T" "" "{PMID:Cossins 2012:22661499}" "" "r.[=, 397_490del]" "exon trap cloning" "Germline" "" "" "0" "" "" "g.3476424C>T" "" "pathogenic (recessive)" "" "0000444192" "2" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Cossins 2012:22661499}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic (recessive)" "" "0000444193" "1" "90" "4" "3478151" "3478151" "subst" "0.0000122029" "00006" "DOK7_000063" "g.3478151C>T" "" "{PMID:Cossins 2012:22661499}" "" "r.[=, 397_490del]" "exon trap cloning" "Germline" "" "" "0" "" "" "g.3476424C>T" "" "pathogenic (recessive)" "" "0000444194" "2" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Cossins 2012:22661499}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic (recessive)" "" "0000444195" "1" "90" "4" "3478151" "3478151" "subst" "0.0000122029" "00006" "DOK7_000063" "g.3478151C>T" "" "{PMID:Cossins 2012:22661499}" "" "r.[=, 397_490del]" "exon trap cloning" "Germline" "" "" "0" "" "" "g.3476424C>T" "" "pathogenic (recessive)" "" "0000444196" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444197" "1" "90" "4" "3478174" "3478174" "del" "0" "00006" "DOK7_000064" "g.3478174del" "" "{PMID:Cossins 2012:22661499}" "" "437delC" "" "Germline" "" "" "0" "" "" "g.3476447del" "" "pathogenic (recessive)" "" "0000444198" "1" "90" "4" "3478174" "3478174" "del" "0" "00006" "DOK7_000064" "g.3478174del" "" "{PMID:Cossins 2012:22661499}" "" "437delC" "" "Germline" "" "" "0" "" "" "g.3476447del" "" "pathogenic (recessive)" "" "0000444199" "2" "90" "4" "3495200" "3495200" "subst" "0.000127809" "00006" "DOK7_000065" "g.3495200G>T" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3493473G>T" "" "pathogenic (recessive)" "" "0000444200" "1" "90" "4" "3478174" "3478174" "del" "0" "00006" "DOK7_000064" "g.3478174del" "" "{PMID:Cossins 2012:22661499}" "" "437delC" "" "Germline" "" "" "0" "" "" "g.3476447del" "" "pathogenic (recessive)" "" "0000444201" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444202" "1" "90" "4" "3478210" "3478210" "subst" "0.00000406709" "00006" "DOK7_000038" "g.3478210G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3476483G>A" "" "pathogenic (recessive)" "" "0000444203" "1" "90" "4" "3478218" "3478218" "subst" "0.0000406696" "00006" "DOK7_000066" "g.3478218G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3476491G>A" "" "pathogenic (recessive)" "" "0000444204" "2" "90" "4" "3495217" "3495218" "ins" "0" "00006" "DOK7_000067" "g.3495217_3495218insTA" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3493490_3493491insTA" "" "pathogenic (recessive)" "" "0000444205" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444206" "1" "90" "4" "3478233" "3478233" "subst" "0.0000122026" "00006" "DOK7_000047" "g.3478233G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3476506G>A" "" "pathogenic (recessive)" "" "0000444207" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444208" "1" "90" "4" "3478249" "3478249" "subst" "0.00000406888" "00006" "DOK7_000068" "g.3478249G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3476522G>A" "" "pathogenic (recessive)" "" "0000444209" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444210" "1" "90" "4" "3478250" "3478250" "subst" "0.00000813954" "00006" "DOK7_000069" "g.3478250C>T" "" "{PMID:Cossins 2012:22661499}" "" "r.577_597del" "exon trap cloning" "Germline" "" "" "0" "" "" "g.3476523C>T" "" "pathogenic (recessive)" "" "0000444211" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444212" "1" "90" "4" "3478250" "3478250" "subst" "0.00000813954" "00006" "DOK7_000069" "g.3478250C>T" "" "{PMID:Cossins 2012:22661499}" "" "r.577_597del" "exon trap cloning" "Germline" "" "" "0" "" "" "g.3476523C>T" "" "pathogenic (recessive)" "" "0000444213" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444214" "1" "90" "4" "3487229" "3487255" "del" "0" "00006" "DOK7_000070" "g.3487229_3487255del" "" "{PMID:Cossins 2012:22661499}" "" "533-37_533-11del27" "" "Germline" "" "" "0" "" "" "g.3485502_3485528del" "" "pathogenic (recessive)" "" "0000444215" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444216" "1" "90" "4" "3487229" "3487255" "del" "0" "00006" "DOK7_000070" "g.3487229_3487255del" "" "{PMID:Cossins 2012:22661499}" "" "533-37_533-11del27" "" "Germline" "" "" "0" "" "" "g.3485502_3485528del" "" "pathogenic (recessive)" "" "0000444217" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444218" "1" "90" "4" "3487272" "3487272" "subst" "0.000012539" "00006" "DOK7_000009" "g.3487272G>C" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3485545G>C" "" "pathogenic (recessive)" "" "0000444219" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444220" "1" "90" "4" "3487272" "3487272" "subst" "0.000012539" "00006" "DOK7_000009" "g.3487272G>C" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3485545G>C" "" "pathogenic (recessive)" "" "0000444221" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444222" "1" "90" "4" "3487281" "3487284" "del" "0" "00006" "DOK7_000010" "g.3487281_3487284del" "" "{PMID:Cossins 2012:22661499}" "" "548_551delTCCT" "" "Germline" "" "" "0" "" "" "g.3485554_3485557del" "" "pathogenic (recessive)" "" "0000444223" "2" "90" "4" "3494856" "3494856" "dup" "0" "00006" "DOK7_000002" "g.3494856dup" "" "{PMID:Cossins 2012:22661499}" "" "1143dupC" "" "Germline" "" "" "0" "" "" "g.3493129dup" "" "pathogenic (recessive)" "" "0000444224" "1" "90" "4" "3487281" "3487284" "del" "0" "00006" "DOK7_000010" "g.3487281_3487284del" "" "{PMID:Cossins 2012:22661499}" "" "549_551delTCCT" "" "Germline" "" "" "0" "" "" "g.3485554_3485557del" "" "pathogenic (recessive)" "" "0000444225" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444226" "1" "90" "4" "3487334" "3487334" "subst" "0.00000829359" "00006" "DOK7_000011" "g.3487334C>T" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3485607C>T" "" "pathogenic (recessive)" "" "0000444227" "1" "90" "4" "3487334" "3487334" "subst" "0.00000829359" "00006" "DOK7_000011" "g.3487334C>T" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3485607C>T" "" "pathogenic (recessive)" "" "0000444228" "2" "90" "4" "3494976" "3494976" "del" "0" "00006" "DOK7_000015" "g.3494976del" "" "{PMID:Cossins 2012:22661499}" "" "1263delC" "" "Germline" "" "" "0" "" "" "g.3493249del" "" "pathogenic (recessive)" "" "0000444229" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444230" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444231" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444232" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444233" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444234" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444235" "1" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444236" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444237" "1" "90" "4" "3494851" "3494851" "del" "0" "00006" "DOK7_000071" "g.3494851del" "" "{PMID:Cossins 2012:22661499}" "" "1138delG" "" "Germline" "" "" "0" "" "" "g.3493124del" "" "pathogenic (recessive)" "" "0000444238" "2" "90" "4" "3494851" "3494851" "del" "0" "00006" "DOK7_000071" "g.3494851del" "" "{PMID:Cossins 2012:22661499}" "" "1138delG" "" "Germline" "" "" "0" "" "" "g.3493124del" "" "pathogenic (recessive)" "" "0000444239" "1" "90" "4" "3494851" "3494851" "del" "0" "00006" "DOK7_000071" "g.3494851del" "" "{PMID:Cossins 2012:22661499}" "" "1138delG" "" "Germline" "" "" "0" "" "" "g.3493124del" "" "pathogenic (recessive)" "" "0000444240" "2" "90" "4" "3494851" "3494851" "del" "0" "00006" "DOK7_000071" "g.3494851del" "" "{PMID:Cossins 2012:22661499}" "" "1138delG" "" "Germline" "" "" "0" "" "" "g.3493124del" "" "pathogenic (recessive)" "" "0000444241" "1" "90" "4" "3494856" "3494856" "dup" "0" "00006" "DOK7_000002" "g.3494856dup" "" "{PMID:Cossins 2012:22661499}" "" "1143dupC" "" "Germline" "" "" "0" "" "" "g.3493129dup" "" "pathogenic (recessive)" "" "0000444242" "2" "90" "4" "3494856" "3494856" "dup" "0" "00006" "DOK7_000002" "g.3494856dup" "" "{PMID:Cossins 2012:22661499}" "" "1143dupC" "" "Germline" "" "" "0" "" "" "g.3493129dup" "" "pathogenic (recessive)" "" "0000444243" "1" "90" "4" "3494856" "3494856" "dup" "0" "00006" "DOK7_000002" "g.3494856dup" "" "{PMID:Cossins 2012:22661499}" "" "1143dupC" "" "Germline" "" "" "0" "" "" "g.3493129dup" "" "pathogenic (recessive)" "" "0000444244" "2" "90" "4" "3494856" "3494856" "dup" "0" "00006" "DOK7_000002" "g.3494856dup" "" "{PMID:Cossins 2012:22661499}" "" "1143dupC" "" "Germline" "" "" "0" "" "" "g.3493129dup" "" "pathogenic (recessive)" "" "0000444245" "1" "90" "4" "3494856" "3494856" "dup" "0" "00006" "DOK7_000002" "g.3494856dup" "" "{PMID:Cossins 2012:22661499}" "" "1143dupC" "" "Germline" "" "" "0" "" "" "g.3493129dup" "" "pathogenic (recessive)" "" "0000444246" "2" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Cossins 2012:22661499}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic (recessive)" "" "0000444247" "1" "90" "4" "3494856" "3494856" "del" "0" "00006" "DOK7_000072" "g.3494856del" "" "{PMID:Cossins 2012:22661499}" "" "1143delC" "" "Germline" "" "" "0" "" "" "g.3493129del" "" "pathogenic (recessive)" "" "0000444248" "2" "90" "4" "3494856" "3494856" "del" "0" "00006" "DOK7_000072" "g.3494856del" "" "{PMID:Cossins 2012:22661499}" "" "1143delC" "" "Germline" "" "" "0" "" "" "g.3493129del" "" "pathogenic (recessive)" "" "0000444249" "2" "90" "4" "3495091" "3495091" "dup" "0" "00006" "DOK7_000006" "g.3495091dup" "" "{PMID:Cossins 2012:22661499}" "" "1378dupC" "" "Germline" "" "" "0" "" "" "g.3493364dup" "" "pathogenic (recessive)" "" "0000444250" "1" "90" "4" "3494856" "3494856" "del" "0" "00006" "DOK7_000072" "g.3494856del" "" "{PMID:Cossins 2012:22661499}" "" "1143delC" "" "Germline" "" "" "0" "" "" "g.3493129del" "" "pathogenic (recessive)" "" "0000444251" "1" "90" "4" "3494856" "3494856" "del" "0" "00006" "DOK7_000072" "g.3494856del" "" "{PMID:Cossins 2012:22661499}" "" "1143delC" "" "Germline" "" "" "0" "" "" "g.3493129del" "" "pathogenic (recessive)" "" "0000444252" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444253" "1" "90" "4" "3494898" "3494898" "subst" "0" "00006" "DOK7_000073" "g.3494898C>G" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3493171C>G" "" "pathogenic (recessive)" "" "0000444254" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444255" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Cossins 2012:22661499}" "" "1263dupC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic (recessive)" "" "0000444256" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444257" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Cossins 2012:22661499}" "" "1263dupC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic (recessive)" "" "0000444258" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444259" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Cossins 2012:22661499}" "" "1263dupC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic (recessive)" "" "0000444260" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444261" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Cossins 2012:22661499}" "" "1263dupC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic (recessive)" "" "0000444262" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444263" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Cossins 2012:22661499}" "" "1263dupC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic (recessive)" "" "0000444264" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444265" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Cossins 2012:22661499}" "" "1263dupC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic (recessive)" "" "0000444266" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444267" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Cossins 2012:22661499}" "" "1263dupC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic (recessive)" "" "0000444268" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444269" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Cossins 2012:22661499}" "" "1263dupC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic (recessive)" "" "0000444270" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444271" "1" "90" "4" "3494976" "3494976" "dup" "0" "00006" "DOK7_000003" "g.3494976dup" "" "{PMID:Cossins 2012:22661499}" "" "1263dupC" "" "Germline" "" "" "0" "" "" "g.3493249dup" "" "pathogenic (recessive)" "" "0000444272" "1" "90" "4" "3495009" "3495024" "del" "0" "00006" "DOK7_000024" "g.3495009_3495024del" "" "{PMID:Cossins 2012:22661499}" "" "1296_1311del16" "" "Germline" "" "" "0" "" "" "g.3493282_3493297del" "" "pathogenic (recessive)" "" "0000444273" "2" "90" "4" "3495009" "3495024" "del" "0" "00006" "DOK7_000024" "g.3495009_3495024del" "" "{PMID:Cossins 2012:22661499}" "" "1296_1311del16" "" "Germline" "" "" "0" "" "" "g.3493282_3493297del" "" "pathogenic (recessive)" "" "0000444274" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444275" "1" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Cossins 2012:22661499}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic (recessive)" "" "0000444276" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444277" "1" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Cossins 2012:22661499}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic (recessive)" "" "0000444278" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444279" "1" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Cossins 2012:22661499}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic (recessive)" "" "0000444280" "1" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Cossins 2012:22661499}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic (recessive)" "" "0000444281" "2" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Cossins 2012:22661499}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic (recessive)" "" "0000444282" "1" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Cossins 2012:22661499}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic (recessive)" "" "0000444283" "1" "90" "4" "3495052" "3495055" "dup" "0" "00006" "DOK7_000004" "g.3495052_3495055dup" "" "{PMID:Cossins 2012:22661499}" "" "1339_1342dupCTGG" "" "Germline" "" "" "0" "" "" "g.3493325_3493328dup" "" "pathogenic (recessive)" "" "0000444284" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444285" "1" "90" "4" "3495091" "3495091" "subst" "0" "00006" "DOK7_000048" "g.3495091C>T" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3493364C>T" "" "pathogenic (recessive)" "" "0000444286" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444287" "1" "90" "4" "3495091" "3495091" "dup" "0" "00006" "DOK7_000006" "g.3495091dup" "" "{PMID:Cossins 2012:22661499}" "" "1378dupC" "" "Germline" "" "" "0" "" "" "g.3493364dup" "" "pathogenic (recessive)" "" "0000444288" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444289" "1" "90" "4" "3495091" "3495091" "dup" "0" "00006" "DOK7_000006" "g.3495091dup" "" "{PMID:Cossins 2012:22661499}" "" "1378dupC" "" "Germline" "" "" "0" "" "" "g.3493364dup" "" "pathogenic (recessive)" "" "0000444290" "1" "90" "4" "3495224" "3495226" "del" "0.0000256819" "00006" "DOK7_000074" "g.3495224_3495226del" "" "{PMID:Cossins 2012:22661499}" "" "1511_1513delCTT" "" "Germline" "" "" "0" "" "" "g.3493497_3493499del" "" "pathogenic (recessive)" "" "0000444291" "2" "90" "4" "3495224" "3495226" "del" "0.0000256819" "00006" "DOK7_000074" "g.3495224_3495226del" "" "{PMID:Cossins 2012:22661499}" "" "1511_1513delCTT" "" "Germline" "" "" "0" "" "" "g.3493497_3493499del" "" "pathogenic (recessive)" "" "0000444292" "1" "90" "4" "3495224" "3495226" "del" "0.0000256819" "00006" "DOK7_000074" "g.3495224_3495226del" "" "{PMID:Cossins 2012:22661499}" "" "1511_1513delCTT" "" "Germline" "" "" "0" "" "" "g.3493497_3493499del" "" "pathogenic (recessive)" "" "0000444293" "2" "90" "4" "3495224" "3495226" "del" "0.0000256819" "00006" "DOK7_000074" "g.3495224_3495226del" "" "{PMID:Cossins 2012:22661499}" "" "1511_1513delCTT" "" "Germline" "" "" "0" "" "" "g.3493497_3493499del" "" "pathogenic (recessive)" "" "0000444294" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444295" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444296" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444297" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444298" "2" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "1124-1127dupTGCC" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444299" "0" "30" "4" "3465144" "3465144" "subst" "0" "00006" "DOK7_000075" "g.3465144G>C" "" "{PMID:Cossins 2012:22661499}" "" "R14R" "" "Germline" "" "" "0" "" "" "g.3463417G>C" "" "likely benign" "" "0000444300" "0" "30" "4" "3475192" "3475192" "subst" "0.0000163368" "00006" "DOK7_000076" "g.3475192C>T" "" "{PMID:Cossins 2012:22661499}" "" "Arg54Tyr)" "" "Germline" "" "" "0" "" "" "g.3473465C>T" "" "likely benign" "" "0000444301" "0" "30" "4" "3475314" "3475314" "subst" "0.000480039" "00006" "DOK7_000077" "g.3475314C>T" "" "{PMID:Cossins 2012:22661499}" "" "H49H" "" "Germline" "" "" "0" "" "" "g.3473587C>T" "" "likely benign" "" "0000444302" "0" "30" "4" "3475166" "3475166" "subst" "0.00546874" "00006" "DOK7_000026" "g.3475166C>T" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3473439C>T" "" "likely benign" "" "0000444303" "0" "30" "4" "3475252" "3475252" "" "0" "00006" "DOK7_000078" "g.3475252=" "" "{PMID:Cossins 2012:22661499}" "" "L74L" "" "Germline" "" "" "0" "" "" "g.3473525C>T" "" "likely benign" "" "0000444304" "0" "30" "4" "3475328" "3475328" "subst" "0.000133648" "00006" "DOK7_000079" "g.3475328C>T" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3473601C>T" "" "likely benign" "" "0000444305" "0" "30" "4" "3487322" "3487322" "subst" "0.00556052" "00006" "DOK7_000080" "g.3487322G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3485595G>A" "" "likely benign" "" "0000444306" "0" "30" "4" "3491504" "3491504" "subst" "0.048772" "00006" "DOK7_000081" "g.3491504G>A" "" "{PMID:Cossins 2012:22661499}" "" "A251A" "" "Germline" "" "" "0" "" "" "g.3489777G>A" "" "likely benign" "" "0000444307" "0" "30" "4" "3494495" "3494495" "subst" "0.00261446" "00006" "DOK7_000082" "g.3494495G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3492768G>A" "" "likely benign" "" "0000444308" "0" "30" "4" "3494529" "3494529" "subst" "0.000225986" "00006" "DOK7_000083" "g.3494529C>G" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3492802C>G" "" "likely benign" "" "0000444309" "0" "30" "4" "3494544" "3494544" "subst" "0.00167388" "00006" "DOK7_000084" "g.3494544C>T" "" "{PMID:Cossins 2012:22661499}" "" "A277A" "" "Germline" "" "" "0" "" "" "g.3492817C>T" "" "likely benign" "" "0000444310" "0" "30" "4" "3494562" "3494562" "subst" "0" "00006" "DOK7_000085" "g.3494562A>C" "" "{PMID:Cossins 2012:22661499}" "" "A283A" "" "Germline" "" "" "0" "" "" "g.3492835A>C" "" "likely benign" "" "0000444311" "0" "30" "4" "3494680" "3494680" "subst" "0.00182408" "00006" "DOK7_000086" "g.3494680C>T" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3492953C>T" "" "likely benign" "" "0000444312" "0" "30" "4" "3494600" "3494600" "subst" "0.231214" "00006" "DOK7_000087" "g.3494600A>G" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3492873A>G" "" "likely benign" "" "0000444313" "0" "30" "4" "3494826" "3494826" "subst" "0.224308" "00006" "DOK7_000088" "g.3494826A>C" "" "{PMID:Cossins 2012:22661499}" "" "S371S" "" "Germline" "" "" "0" "" "" "g.3493099A>C" "" "likely benign" "" "0000444314" "0" "30" "4" "3494847" "3494847" "subst" "0.221782" "00006" "DOK7_000089" "g.3494847G>A" "" "{PMID:Cossins 2012:22661499}" "" "A378A" "" "Germline" "" "" "0" "" "" "g.3493120G>A" "" "likely benign" "" "0000444315" "0" "30" "4" "3494898" "3494898" "subst" "0.231402" "00006" "DOK7_000090" "g.3494898C>T" "" "{PMID:Cossins 2012:22661499}" "" "Y395Y" "" "Germline" "" "" "0" "" "" "g.3493171C>T" "" "likely benign" "" "0000444316" "0" "30" "4" "3495030" "3495030" "subst" "0.00345887" "00006" "DOK7_000091" "g.3495030C>T" "" "{PMID:Cossins 2012:22661499}" "" "S439S" "" "Germline" "" "" "0" "" "" "g.3493303C>T" "" "likely benign" "" "0000444317" "0" "30" "4" "3495042" "3495042" "subst" "0.0000137789" "00006" "DOK7_000092" "g.3495042C>T" "" "{PMID:Cossins 2012:22661499}" "" "P442P" "" "Germline" "" "" "0" "" "" "g.3493315C>T" "" "likely benign" "" "0000444318" "0" "30" "4" "3495095" "3495095" "subst" "0.207129" "00006" "DOK7_000093" "g.3495095G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3493368G>A" "" "likely benign" "" "0000444319" "0" "30" "4" "3495220" "3495220" "subst" "0.00116983" "00006" "DOK7_000094" "g.3495220C>A" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3493493C>A" "" "likely benign" "" "0000444320" "0" "30" "4" "3494733" "3494733" "subst" "0.00034409" "00006" "DOK7_000095" "g.3494733C>T" "" "{PMID:Cossins 2012:22661499}" "" "I340I" "" "Germline" "" "" "0" "" "" "g.3493006C>T" "" "likely benign" "" "0000444321" "0" "30" "4" "3494857" "3494857" "subst" "0.000766939" "00006" "DOK7_000096" "g.3494857G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3493130G>A" "" "likely benign" "" "0000444322" "0" "30" "4" "3494918" "3494918" "subst" "0.000055438" "00006" "DOK7_000097" "g.3494918G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3493191G>A" "" "likely benign" "" "0000444323" "0" "30" "4" "3494956" "3494956" "subst" "0.0527867" "00006" "DOK7_000098" "g.3494956C>T" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3493229C>T" "" "likely benign" "" "0000444324" "0" "30" "4" "3495031" "3495031" "subst" "0.0000592671" "00006" "DOK7_000099" "g.3495031G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3493304G>A" "" "likely benign" "" "0000444325" "0" "30" "4" "3495064" "3495064" "subst" "0.0036094" "00006" "DOK7_000056" "g.3495064C>T" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3493337C>T" "" "likely benign" "" "0000444326" "1" "90" "4" "3494856" "3494856" "dup" "0" "00464" "DOK7_000002" "g.3494856dup" "" "" "" "1143dupC" "" "Germline" "" "" "0" "" "" "g.3493129dup" "" "pathogenic (recessive)" "" "0000444327" "2" "70" "4" "3495125" "3495125" "dup" "0" "00464" "DOK7_000101" "g.3495125dup" "" "" "" "1411dup" "" "Germline" "" "" "0" "" "" "g.3493398dup" "" "likely pathogenic" "" "0000444328" "2" "90" "4" "3478218" "3478218" "subst" "0.0000406696" "00464" "DOK7_000066" "g.3478218G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3476491G>A" "" "pathogenic (recessive)" "" "0000444329" "1" "70" "4" "3478116" "3478116" "subst" "0.0000407342" "00464" "DOK7_000102" "g.3478116G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3476389G>A" "" "likely pathogenic" "" "0000444330" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444331" "1" "90" "4" "3478218" "3478218" "subst" "0.0000406696" "00464" "DOK7_000066" "g.3478218G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3476491G>A" "" "pathogenic (recessive)" "" "0000444332" "10" "70" "4" "3495224" "3495226" "del" "0.0000256819" "00006" "DOK7_000074" "g.3495224_3495226del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493497_3493499del" "" "likely pathogenic" "" "0000444333" "20" "70" "4" "3495224" "3495226" "del" "0.0000256819" "00006" "DOK7_000074" "g.3495224_3495226del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493497_3493499del" "" "likely pathogenic" "" "0000444334" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444335" "1" "70" "4" "3478068" "3478068" "subst" "0" "00464" "DOK7_000103" "g.3478068G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3476341G>T" "" "likely pathogenic" "" "0000444336" "2" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "pathogenic (recessive)" "" "0000444337" "1" "70" "4" "3491525" "3491527" "delins" "0" "00464" "DOK7_000104" "g.3491525_3491527delinsCCGGGCAGGCGGGCA" "" "" "tlwinder" "772+2_772+4delinsCCGGGCAGGCGGGCA" "" "Germline" "" "" "0" "" "" "g.3489798_3489800delinsCCGGGCAGGCGGGCA" "" "likely pathogenic" "" "0000444338" "0" "50" "4" "3495064" "3495064" "subst" "0.0036094" "00511" "DOK7_000056" "g.3495064C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.3493337C>T" "" "VUS" "" "0000444339" "0" "50" "4" "3475114" "3475114" "subst" "0" "00511" "DOK7_000057" "g.3475114A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.3473387A>G" "" "VUS" "" "0000444340" "0" "30" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0001}" "" "" "pcDNA3.1 co-expression cloning HEK293 cells with MUSK; MUSK phosphorylation and co-IP" "In vitro (cloned)" "" "" "0" "" "" "g.3493110_3493113dup" "" "NA" "" "0000444341" "0" "70" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Beeson 2006:16917026}, {OMIM610285:0001}" "" "" "pcDNA3.1 expression cloning C2C12 cell; reduced MUSK and AchR-beta phosphorylation, AChR clusters fewer/altered shape" "In vitro (cloned)" "" "" "0" "" "" "g.3493110_3493113dup" "" "NA" "" "0000444342" "0" "90" "4" "3475133" "3478269" "del" "0" "00464" "DOK7_000000" "g.3475133_3478269del" "" "{PMID:Selcen 2008:18626973}" "" "" "pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; failure to phosphorylate MUSK" "In vitro (cloned)" "" "" "0" "" "" "g.3473406_3476542del" "" "NA" "" "0000444343" "0" "90" "4" "3475133" "3491523" "del" "0" "00464" "DOK7_000000" "g.3475133_3491523del" "" "{PMID:Selcen 2008:18626973}" "" "" "pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; significantly reduced expression; failure to phosphorylate MUSK" "In vitro (cloned)" "" "" "0" "" "" "g.3473406_3489796del" "" "NA" "" "0000444344" "0" "90" "4" "3475133" "3475363" "del" "0" "00464" "DOK7_000000" "g.3475133_3475363del" "" "{PMID:Selcen 2008:18626973}" "" "" "pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; significantly reduced expression; failure to phosphorylate MUSK" "In vitro (cloned)" "" "" "0" "" "" "g.3473406_3473636del" "" "NA" "" "0000444345" "0" "70" "4" "3487329" "3487329" "del" "0.00000827993" "00464" "DOK7_000013" "g.3487329del" "" "{PMID:Selcen 2008:18626973}" "" "596delT" "pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; significantly reduced expression" "In vitro (cloned)" "" "" "0" "" "" "g.3485602del" "" "NA" "" "0000444346" "0" "70" "4" "3487334" "3487334" "subst" "0.00000829359" "00464" "DOK7_000011" "g.3487334C>T" "" "{PMID:Selcen 2008:18626973}" "" "" "pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; significantly reduced expression" "In vitro (cloned)" "" "" "0" "" "" "g.3485607C>T" "" "NA" "" "0000444347" "0" "90" "4" "3494714" "3494724" "dup" "0" "00464" "DOK7_000020" "g.3494714_3494724dup" "" "{PMID:Selcen 2008:18626973}" "" "" "pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; significantly smaller axial length/density AChR clusters" "In vitro (cloned)" "" "" "0" "" "" "g.3492987_3492997dup" "" "NA" "" "0000444348" "0" "90" "4" "3494852" "3494854" "delins" "0" "00464" "DOK7_000021" "g.3494852_3494854delinsA" "" "{PMID:Selcen 2008:18626973}" "" "" "pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; significantly smaller axial length/density AChR clusters" "In vitro (cloned)" "" "" "0" "" "" "g.3493125_3493127delinsA" "" "NA" "" "0000444349" "0" "90" "4" "3494950" "3494950" "dup" "0" "00464" "DOK7_000017" "g.3494950dup" "" "{PMID:Selcen 2008:18626973}" "" "1237dupC" "pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; significantly smaller axial length/density AChR clusters" "In vitro (cloned)" "" "" "0" "" "" "g.3493223dup" "" "NA" "" "0000444350" "0" "30" "4" "3494976" "3494976" "dup" "0" "00464" "DOK7_000003" "g.3494976dup" "" "{PMID:Selcen 2008:18626973}" "" "1263dupC" "pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; few effects described" "In vitro (cloned)" "" "" "0" "" "" "g.3493249dup" "" "NA" "" "0000444351" "0" "90" "4" "3495091" "3495091" "dup" "0" "00464" "DOK7_000006" "g.3495091dup" "" "{PMID:Selcen 2008:18626973}" "" "1378dupC" "pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; significantly smaller axial length/density AChR clusters" "In vitro (cloned)" "" "" "0" "" "" "g.3493364dup" "" "NA" "" "0000444352" "0" "90" "4" "3495226" "3495226" "subst" "0" "00464" "DOK7_000019" "g.3495226T>C" "" "{PMID:Selcen 2008:18626973}" "" "" "pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; significantly reduced expression; significantly smaller axial length/density AChR clusters" "In vitro (cloned)" "" "" "0" "" "" "g.3493499T>C" "" "NA" "" "0000444353" "0" "90" "4" "3494837" "3494840" "dup" "0" "00464" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Selcen 2008:18626973}" "" "" "pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; significantly smaller axial length/density AChR clusters" "In vitro (cloned)" "" "" "0" "" "" "g.3493110_3493113dup" "" "NA" "" "0000444354" "0" "90" "4" "3465276" "3465276" "subst" "0" "00006" "DOK7_000025" "g.3465276C>T" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning, fails to induce MUSK (Tyr phosphorylation)" "In vitro (cloned)" "" "" "0" "" "" "g.3463549C>T" "" "NA" "" "0000444355" "0" "90" "4" "3478210" "3478210" "subst" "0.00000406709" "00006" "DOK7_000038" "g.3478210G>A" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning, fails to induce MUSK (Tyr phosphorylation)" "In vitro (cloned)" "" "" "0" "" "" "g.3476483G>A" "" "NA" "" "0000444356" "0" "90" "4" "3478210" "3478210" "subst" "0.00000406709" "00006" "DOK7_000038" "g.3478210G>A" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning HEK 293T cells, fails to bind MUSK" "In vitro (cloned)" "" "" "0" "" "" "g.3476483G>A" "" "NA" "" "0000444357" "0" "90" "4" "0" "0" "" "0" "00006" "DOK7_000000" "g.?" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning HEK 293T cells, fails to bind MUSK" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000444358" "0" "90" "4" "0" "0" "" "0" "00006" "DOK7_000000" "g.?" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning HEK 293T cells, fails to bind MUSK" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000444359" "0" "90" "4" "0" "0" "" "0" "00006" "DOK7_000000" "g.?" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning HEK 293T cells, fails to bind MUSK" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000444360" "0" "90" "4" "3487334" "3487334" "subst" "0.00000829359" "00006" "DOK7_000011" "g.3487334C>T" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning, fails to induce MUSK; accumulates in nucleus" "In vitro (cloned)" "" "" "0" "" "" "g.3485607C>T" "" "NA" "" "0000444361" "0" "70" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning, partially induces MUSK" "In vitro (cloned)" "" "" "0" "" "" "g.3493110_3493113dup" "" "NA" "" "0000444362" "0" "90" "4" "0" "0" "" "0" "00006" "DOK7_000000" "g.?" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning myotubes DOK7 in nculeus" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000444363" "0" "70" "4" "0" "0" "" "0" "00006" "DOK7_000000" "g.?" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning myotubes DOK7 in nucleus/cytoplasm" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000444364" "0" "30" "4" "0" "0" "" "0" "00006" "DOK7_000000" "g.?" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning myotubes DOK7 in cytoplasm" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000444365" "0" "70" "4" "0" "0" "" "0" "00006" "DOK7_000000" "g.?" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning significantly reduced MUSK activiation/AChR clustering" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000444366" "0" "70" "4" "0" "0" "" "0" "00006" "DOK7_000000" "g.?" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning significantly reduced MUSK activiation/AChR clustering" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000444367" "0" "70" "4" "0" "0" "" "0" "00006" "DOK7_000000" "g.?" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning HEK 293T cells significantly reduced Tyr phoshorylation" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000444368" "0" "70" "4" "0" "0" "" "0" "00006" "DOK7_000000" "g.?" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning HEK 293T cells significantly reduced Tyr phoshorylation" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000444369" "0" "70" "4" "3494856" "3494856" "dup" "0" "00006" "DOK7_000002" "g.3494856dup" "" "{PMID:Hamuro 2008:18165682}" "" "1143insC" "expression cloning reduced MUSK activiation/AChR clustering" "In vitro (cloned)" "" "" "0" "" "" "g.3493129dup" "" "NA" "" "0000444370" "0" "30" "4" "0" "0" "" "0" "00006" "DOK7_000000" "g.?" "" "{PMID:Hamuro 2008:18165682}" "" "" "expression cloning no effect on MUSK activiation/AChR clustering" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000444371" "0" "90" "4" "3465109" "3465109" "subst" "0.000032079" "00006" "DOK7_000052" "g.3465109G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "expression cloning differentiated C2C12 cells, significantly reduced AChR clustering, reduced complexity" "In vitro (cloned)" "" "" "0" "" "" "g.3463382G>A" "" "NA" "" "0000444372" "0" "90" "4" "3465269" "3465269" "subst" "0" "00006" "DOK7_000060" "g.3465269C>A" "" "{PMID:Cossins 2012:22661499}" "" "" "expression cloning differentiated C2C12 cells, significantly reduced AChR clustering, reduced complexity" "In vitro (cloned)" "" "" "0" "" "" "g.3463542C>A" "" "NA" "" "0000444373" "0" "90" "4" "3478152" "3478152" "subst" "0.00000406765" "00006" "DOK7_000049" "g.3478152G>C" "" "{PMID:Cossins 2012:22661499}" "" "" "expression cloning differentiated C2C12 cells, significantly reduced AChR clustering, non-significant reduced complexity" "In vitro (cloned)" "" "" "0" "" "" "g.3476425G>C" "" "NA" "" "0000444374" "0" "90" "4" "3478210" "3478210" "subst" "0.00000406709" "00006" "DOK7_000038" "g.3478210G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "expression cloning differentiated C2C12 cells, significantly reduced AChR clustering, reduced complexity" "In vitro (cloned)" "" "" "0" "" "" "g.3476483G>A" "" "NA" "" "0000444375" "0" "90" "4" "3478218" "3478218" "subst" "0.0000406696" "00006" "DOK7_000066" "g.3478218G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "expression cloning differentiated C2C12 cells, significantly reduced AChR clustering, reduced complexity" "In vitro (cloned)" "" "" "0" "" "" "g.3476491G>A" "" "NA" "" "0000444376" "0" "90" "4" "3478233" "3478233" "subst" "0.0000122026" "00006" "DOK7_000047" "g.3478233G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "expression cloning differentiated C2C12 cells, significantly reduced AChR clustering, reduced complexity" "In vitro (cloned)" "" "" "0" "" "" "g.3476506G>A" "" "NA" "" "0000444377" "0" "90" "4" "3478249" "3478249" "subst" "0.00000406888" "00006" "DOK7_000068" "g.3478249G>A" "" "{PMID:Cossins 2012:22661499}" "" "" "expression cloning differentiated C2C12 cells, significantly reduced AChR clustering, reduced complexity" "In vitro (cloned)" "" "" "0" "" "" "g.3476522G>A" "" "NA" "" "0000444378" "0" "90" "4" "3487272" "3487272" "subst" "0.000012539" "00006" "DOK7_000009" "g.3487272G>C" "" "{PMID:Cossins 2012:22661499}" "" "" "expression cloning differentiated C2C12 cells, significantly reduced AChR clustering, reduced complexity" "In vitro (cloned)" "" "" "0" "" "" "g.3485545G>C" "" "NA" "" "0000444379" "0" "90" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "" "{PMID:Cossins 2012:22661499}" "" "" "expression cloning differentiated C2C12 cells, significantly reduced AChR clustering, reduced complexity" "In vitro (cloned)" "" "" "0" "" "" "g.3493110_3493113dup" "" "NA" "" "0000444380" "0" "90" "4" "3475357" "3475357" "subst" "0" "00006" "DOK7_000051" "g.3475357G>T" "" "{PMID:Cossins 2012:22661499}" "" "" "expression cloning differentiated C2C12 cells, significantly reduced AChR clustering (0.75), reduced complexity" "In vitro (cloned)" "" "" "0" "" "" "g.3473630G>T" "" "NA" "" "0000444381" "0" "90" "4" "3475262" "3475262" "subst" "0.0000122748" "00006" "DOK7_000062" "g.3475262C>T" "" "{PMID:Cossins 2012:22661499}" "" "" "expression cloning differentiated C2C12 cells, non-significantly reduced AChR clustering (0.5), reduced complexity" "In vitro (cloned)" "" "" "0" "" "" "g.3473535C>T" "" "NA" "" "0000444382" "1" "90" "4" "3475208" "3475238" "del" "0" "00006" "DOK7_000117" "g.3475208_3475238delinsAG" "" "{PMID:Jephson 2010:20554332}" "" "" "" "Germline" "" "" "0" "" "" "g.3473481_3473511delinsAG" "" "pathogenic (recessive)" "" "0000444383" "1" "90" "4" "3475208" "3475238" "del" "0" "00006" "DOK7_000117" "g.3475208_3475238delinsAG" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3473481_3473511delinsAG" "" "pathogenic" "" "0000444384" "1" "90" "4" "3475208" "3475238" "del" "0" "00006" "DOK7_000117" "g.3475208_3475238delinsAG" "" "{PMID:Cossins 2012:22661499}" "" "" "" "Germline" "" "" "0" "" "" "g.3473481_3473511delinsAG" "" "pathogenic (recessive)" "" "0000522485" "0" "10" "4" "3475252" "3475252" "subst" "1" "02325" "DOK7_000177" "g.3475252T>C" "" "" "" "DOK7(NM_173660.4):c.220T>C (p.L74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3473525=" "" "benign" "" "0000522487" "0" "50" "4" "3487374" "3487374" "subst" "0.000182273" "01804" "DOK7_000178" "g.3487374C>T" "" "" "" "DOK7(NM_173660.4):c.641C>T (p.(Pro214Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3485647C>T" "" "VUS" "" "0000522490" "0" "30" "4" "3494559" "3494559" "subst" "0.000135921" "01804" "DOK7_000180" "g.3494559C>T" "" "" "" "DOK7(NM_001164673.1):c.*67C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3492832C>T" "" "likely benign" "" "0000522494" "0" "30" "4" "3495209" "3495209" "subst" "0" "01804" "DOK7_000183" "g.3495209A>G" "" "" "" "DOK7(NM_001164673.1):c.*717A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3493482A>G" "" "likely benign" "" "0000609205" "0" "30" "4" "3494884" "3494884" "subst" "0.000838979" "01804" "DOK7_000186" "g.3494884G>A" "" "" "" "DOK7(NM_001164673.1):c.*392G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3493157G>A" "" "likely benign" "" "0000651471" "1" "50" "4" "3475328" "3475328" "subst" "0.000133648" "03575" "DOK7_000079" "g.3475328C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs138010842}" "Germline" "" "rs138010842" "0" "" "" "g.3473601C>T" "" "VUS" "" "0000651472" "1" "50" "4" "3494494" "3494494" "subst" "0.000831406" "03575" "DOK7_000188" "g.3494494C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs142821143}" "Germline" "" "rs142821143" "0" "" "" "g.3492767C>T" "" "VUS" "" "0000653331" "1" "90" "4" "3494670" "3494670" "del" "0" "03575" "DOK7_000189" "g.3494670del" "2/2776 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs794727884}" "Germline" "" "rs794727884" "0" "" "" "g.3492943del" "" "pathogenic" "" "0000655143" "0" "50" "4" "3494976" "3494976" "del" "0" "01943" "DOK7_000015" "g.3494976del" "" "" "" "DOK7(NM_173660.4):c.1263delC (p.S422Hfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3493249del" "" "VUS" "" "0000677267" "0" "30" "4" "3494544" "3494544" "subst" "0.00167388" "02326" "DOK7_000084" "g.3494544C>T" "" "" "" "DOK7(NM_173660.4):c.831C>T (p.A277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677268" "0" "50" "4" "3494686" "3494686" "subst" "0.0000272859" "01804" "DOK7_000190" "g.3494686C>T" "" "" "" "DOK7(NM_001164673.1):c.*194C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677269" "0" "30" "4" "3502471" "3502471" "subst" "0.000169737" "01943" "DOK7_000191" "g.3502471G>A" "" "" "" "DOK7(NM_001301071.1):c.1746G>A (p.A582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000686015" "0" "90" "4" "3494643" "3494646" "del" "0" "03219" "DOK7_000192" "g.3494643_3494646del" "" "no variant 2nd chromosome" "" "930_933delCATG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000697499" "0" "70" "4" "3494837" "3494840" "dup" "0" "00006" "DOK7_000001" "g.3494837_3494840dup" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.3493110_3493113dup" "" "likely pathogenic" "" "0000719897" "0" "10" "4" "3475166" "3475166" "subst" "0.00546874" "01943" "DOK7_000026" "g.3475166C>T" "" "" "" "DOK7(NM_173660.4):c.134C>T (p.S45L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719898" "0" "70" "4" "3494837" "3494840" "dup" "0" "01943" "DOK7_000001" "g.3494837_3494840dup" "" "" "" "DOK7(NM_173660.4):c.1124_1127dupTGCC (p.A378Sfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719899" "0" "50" "4" "3495019" "3495019" "subst" "0.0000356847" "02329" "DOK7_000193" "g.3495019G>A" "" "" "" "DOK7(NM_173660.4):c.1306G>A (p.G436S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719900" "0" "30" "4" "3502427" "3502427" "subst" "0.0000462627" "01943" "DOK7_000194" "g.3502427G>A" "" "" "" "DOK7(NM_001301071.1):c.1702G>A (p.A568T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DOK7 ## Count = 555 "{{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}}" "0000062830" "00006631" "10" "2492" "0" "2492" "0" "c.*977C>T" "r.(=)" "p.(=)" "" "0000062831" "00006631" "50" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Ser45Leu)" "" "0000062832" "00006631" "10" "332" "-38" "332" "-38" "c.332-38G>A" "r.(=)" "p.(=)" "" "0000062833" "00006631" "10" "2345" "0" "2345" "0" "c.*830C>T" "r.(=)" "p.(=)" "" "0000062834" "00006631" "10" "332" "-24" "332" "-24" "c.332-24C>A" "r.(=)" "p.(=)" "" "0000062835" "00006631" "10" "332" "-50" "332" "-50" "c.332-50T>C" "r.(=)" "p.(=)" "" "0000062836" "00006631" "10" "332" "-39" "332" "-39" "c.332-39T>C" "r.(=)" "p.(=)" "" "0000062837" "00006631" "10" "2437" "0" "2437" "0" "c.*922A>G" "r.(=)" "p.(=)" "" "0000062838" "00006631" "10" "101" "-26" "101" "-26" "c.101-26G>A" "r.(=)" "p.(=)" "" "0000062839" "00006631" "90" "596" "0" "596" "0" "c.596del" "r.(?)" "p.(Ile199Thrfs*47)" "" "0000062840" "00006631" "10" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Arg364Gln)" "" "0000062841" "00006631" "10" "332" "-56" "332" "-56" "c.332-56delinsAT" "r.(=)" "p.(=)" "" "0000062842" "00006631" "10" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Pro415Ser)" "" "0000062843" "00006631" "10" "1185" "0" "1185" "0" "c.1185C>T" "r.(=)" "p.(=)" "" "0000062844" "00006631" "10" "1134" "0" "1134" "0" "c.1134G>A" "r.(=)" "p.(=)" "" "0000062845" "00006631" "10" "2397" "0" "2397" "0" "c.*882C>T" "r.(?)" "p.(=)" "7" "0000062846" "00006631" "10" "1113" "0" "1113" "0" "c.1113A>C" "r.(=)" "p.(=)" "" "0000062847" "00006631" "10" "887" "0" "887" "0" "c.887A>G" "r.(?)" "p.(Gln296Arg)" "" "0000062848" "00006631" "10" "773" "-32" "773" "-32" "c.773-32del" "r.(=)" "p.(=)" "" "0000062849" "00006631" "10" "773" "-56" "773" "-56" "c.773-56G>A" "r.(=)" "p.(=)" "" "0000062850" "00006631" "10" "773" "-67" "773" "-67" "c.773-67G>A" "r.(=)" "p.(=)" "" "0000062851" "00006631" "10" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451Trp)" "" "0000062852" "00006631" "10" "332" "-49" "332" "-49" "c.332-49C>T" "r.(=)" "p.(=)" "" "0000062853" "00006631" "10" "332" "-82" "332" "-82" "c.332-82G>A" "r.(=)" "p.(=)" "" "0000062854" "00006631" "10" "332" "-69" "332" "-69" "c.332-69A>G" "r.(=)" "p.(=)" "" "0000062855" "00006631" "10" "332" "-112" "332" "-112" "c.332-112G>A" "r.(=)" "p.(=)" "" "0000062856" "00006631" "10" "331" "27" "331" "27" "c.331+27G>A" "r.(=)" "p.(=)" "" "0000062857" "00006631" "10" "54" "32" "54" "33" "c.54+32_54+33del" "r.(=)" "p.(=)" "" "0000062858" "00006631" "10" "-30" "0" "-30" "0" "c.-30G>T" "r.(=)" "p.(=)" "" "0000062859" "00006631" "50" "653" "-77" "653" "-77" "c.653-77C>G" "r.(=)" "p.(=)" "" "0000062860" "00006631" "10" "532" "122" "532" "122" "c.532+122C>A" "r.(=)" "p.(=)" "" "0000062861" "00006631" "10" "753" "0" "753" "0" "c.753G>A" "r.(=)" "p.(=)" "" "0000062862" "00006631" "10" "533" "-31" "533" "-31" "c.533-31A>G" "r.(=)" "p.(=)" "" "0000062863" "00006631" "10" "332" "-38" "332" "-38" "c.332-38G>A" "r.(=)" "p.(=)" "" "0000062864" "00006631" "50" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Gly64Arg)" "" "0000062865" "00006631" "10" "332" "-39" "332" "-39" "c.332-39T>C" "r.(=)" "p.(=)" "" "0000130126" "00006631" "70" "1513" "0" "1513" "0" "c.1513T>G" "r.(?)" "p.(*505Glyext*182)" "7" "0000194495" "00006631" "70" "54" "12" "54" "23" "c.54+12_54+23del" "r.spl" "p.(=)" "1i" "0000194496" "00006631" "70" "54" "12" "54" "23" "c.54+12_54+23del" "r.spl" "p.(=)" "1i" "0000270885" "00006631" "10" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(Tyr395=)" "" "0000270886" "00006631" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Ter)" "" "0000329845" "00006631" "30" "653" "-19" "653" "-19" "c.653-19A>C" "r.(=)" "p.(=)" "" "0000329846" "00006631" "30" "675" "0" "675" "0" "c.675G>C" "r.(?)" "p.(Ser225=)" "" "0000329852" "00006631" "30" "1443" "0" "1443" "0" "c.1443C>T" "r.(?)" "p.(His481=)" "" "0000337826" "00006631" "10" "-30" "0" "-30" "0" "c.-30G>T" "r.(?)" "p.(=)" "" "0000337827" "00006631" "10" "-6" "0" "-6" "0" "c.-6C>G" "r.(?)" "p.(=)" "" "0000337828" "00006631" "10" "101" "-11" "101" "-11" "c.101-11G>A" "r.(=)" "p.(=)" "" "0000337830" "00006631" "10" "332" "-18" "332" "-18" "c.332-18T>C" "r.(=)" "p.(=)" "" "0000337832" "00006631" "10" "1570" "0" "1570" "0" "c.*55C>G" "r.(=)" "p.(=)" "" "0000337833" "00006631" "10" "1582" "0" "1582" "0" "c.*67C>T" "r.(=)" "p.(=)" "" "0000339903" "00006631" "10" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(Tyr395=)" "" "0000340635" "00006631" "10" "753" "0" "753" "0" "c.753G>A" "r.(?)" "p.(Ala251=)" "" "0000340644" "00006631" "10" "1134" "0" "1134" "0" "c.1134G>A" "r.(?)" "p.(Ala378=)" "" "0000340960" "00006631" "10" "1113" "0" "1113" "0" "c.1113A>C" "r.(?)" "p.(Ser371=)" "" "0000341449" "00006631" "30" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Ala440Thr)" "" "0000341454" "00006631" "30" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Ala458Thr)" "" "0000341676" "00006631" "50" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103Gln)" "" "0000342827" "00006631" "10" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Trp)" "" "0000343982" "00006631" "10" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Asp197Asn)" "" "0000344385" "00006631" "90" "1236" "0" "1236" "0" "c.1236C>A" "r.(?)" "p.(Cys412Ter)" "" "0000344404" "00006631" "50" "1476" "0" "1476" "0" "c.1476T>G" "r.(?)" "p.(Cys492Trp)" "" "0000344743" "00006631" "10" "887" "0" "887" "0" "c.887A>G" "r.(?)" "p.(Gln296Arg)" "" "0000345768" "00006631" "70" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Gly161Arg)" "" "0000345790" "00006631" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Arg)" "" "0000346090" "00006631" "10" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Gly461Asp)" "" "0000348202" "00006631" "50" "437" "0" "437" "0" "c.437C>T" "r.(?)" "p.(Pro146Leu)" "" "0000348443" "00006631" "10" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Pro415Ser)" "" "0000355571" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000367739" "00006631" "10" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(=)" "3" "0000367740" "00006631" "10" "887" "0" "887" "0" "c.887A>G" "r.(?)" "p.(Gln296Arg)" "7" "0000367741" "00006631" "10" "1113" "0" "1113" "0" "c.1113A>C" "r.(=)" "p.(=)" "7" "0000367742" "00006631" "10" "1134" "0" "1134" "0" "c.1134G>A" "r.(=)" "p.(=)" "7" "0000367743" "00006631" "10" "1185" "0" "1185" "0" "c.1185C>T" "r.(=)" "p.(=)" "7" "0000439078" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "" "0000443922" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443923" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000443924" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443925" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443926" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443927" "00006631" "90" "1263" "0" "1263" "0" "c.1263dup" "r.(?)" "p.(Ser422Leufs*97)" "7" "0000443928" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443929" "00006631" "90" "1263" "0" "1263" "0" "c.1263dup" "r.(?)" "p.(Ser422Leufs*97)" "7" "0000443930" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443931" "00006631" "90" "1263" "0" "1263" "0" "c.1263dup" "r.(?)" "p.(Ser422Leufs*97)" "7" "0000443932" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443933" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443934" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443935" "00006631" "90" "548" "0" "551" "0" "c.548_551del" "r.(?)" "p.(Phe183Cysfs*62)" "5" "0000443936" "00006631" "90" "1143" "0" "1143" "0" "c.1143dup" "r.(?)" "p.(Glu382Argfs*25)" "7" "0000443937" "00006631" "90" "1143" "0" "1143" "0" "c.1143dup" "r.(?)" "p.(Glu382Argfs*25)" "7" "0000443938" "00006631" "90" "1143" "0" "1143" "0" "c.1143dup" "r.(?)" "p.(Glu382Argfs*25)" "7" "0000443939" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000443940" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443941" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000443942" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443943" "00006631" "90" "539" "0" "539" "0" "c.539G>C" "r.(?)" "p.(Gly180Ala)" "5" "0000443944" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443945" "00006631" "90" "539" "0" "539" "0" "c.539G>C" "r.(?)" "p.(Gly180Ala)" "5" "0000443946" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443947" "00006631" "90" "1143" "0" "1143" "0" "c.1143dup" "r.(?)" "p.(Glu382Argfs*25)" "7" "0000443948" "00006631" "90" "1378" "0" "1378" "0" "c.1378dup" "r.(?)" "p.(Glu460Profs*59)" "7" "0000443949" "00006631" "90" "1508" "0" "1508" "0" "c.1508dup" "r.(?)" "p.(Pro504Serfs*15)" "7" "0000443950" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443951" "00006631" "90" "1263" "0" "1263" "0" "c.1263dup" "r.(?)" "p.(Ser422Leufs*97)" "7" "0000443952" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443953" "00006631" "90" "1361" "0" "1374" "0" "c.1361_1374del" "r.(?)" "p.(Leu454Profs*60)" "7" "0000443954" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443955" "00006631" "90" "101" "-1" "101" "-1" "c.101-1G>C" "r.spl" "p.?" "2i" "0000443956" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.1124_1127dup" "p.Ala378Serfs*30" "7" "0000443957" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.1124_1127dup" "p.Ala378Serfs*30" "7" "0000443958" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.1124_1127dup" "p.Ala378Serfs*30" "7" "0000443959" "00006631" "90" "601" "0" "601" "0" "c.601C>T" "r.601c>u" "p.Arg201*" "5" "0000443960" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443961" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443962" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443963" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443964" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443965" "00006631" "90" "596" "0" "596" "0" "c.596del" "r.(?)" "p.(Ile199Thrfs*47)" "5" "0000443966" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443967" "00006631" "90" "54" "25" "55" "-38" "c.54+25_55-38del" "r.[54_55ins54+1_55-1; 54+14_55-38del]" "p.Trp19Valfs*23" "1i" "0000443968" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443969" "00006631" "90" "1263" "0" "1263" "0" "c.1263del" "r.(?)" "p.(Ser422Hisfs*34)" "7" "0000443970" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443971" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443972" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443973" "00006631" "90" "54" "25" "55" "-38" "c.54+25_55-38del" "r.[54_55ins54+1_55-1; 54+14_55-38del]" "p.Trp19Valfs*22" "1i" "0000443974" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443975" "00006631" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201*)" "5" "0000443976" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443977" "00006631" "90" "1263" "0" "1263" "0" "c.1263dup" "r.(?)" "p.Ser422Leufs*97" "7" "0000443978" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.Ala378Serfs*30" "7" "0000443979" "00006631" "90" "55" "-2" "55" "-2" "c.55-2A>C" "r.55_65del" "p.Trp19Valfs*70" "1i" "0000443980" "00006631" "90" "101" "0" "773" "0" "c.(100+1_101-1)_(772+1_773-1)del" "r.101_772del" "p.fs*" "2i_6i" "0000443981" "00006631" "90" "1001" "0" "1011" "0" "c.1001_1011dup" "r.1001_1011dup" "p.Ser338Alafs*122" "7" "0000443982" "00006631" "90" "0" "0" "0" "0" "c.?" "r.[55_100del, 55_532del, 101_532del]" "p.fs*" "2" "0000443983" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.[1124_1127dup, 55_100del; 1124_1127dup]" "p.[Ala378Serfs*30, fs*]" "7" "0000443984" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000443985" "00006631" "90" "1237" "0" "1237" "0" "c.1237dup" "r.(?)" "p.(Leu413Profs*4)" "7" "0000443986" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.1124_1127dup" "p.Ala378Serfs*30" "7" "0000443987" "00006631" "90" "331" "1" "331" "1" "c.331+1G>T" "r.[101_331del, 101_532del, 55_532del]" "p.[Asp34_Glu110del, fs*]" "3i" "0000443988" "00006631" "90" "1513" "0" "1513" "0" "c.1513T>C" "r.(?)" "p.(*505Argext*182)" "7" "0000443989" "00006631" "90" "1139" "0" "1141" "0" "c.1139_1141delinsA" "r.(?)" "p.(Ala380Aspfs*26)" "7" "0000443990" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" 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"p.(Ala378Serfs*30)" "7" "0000444099" "00006631" "90" "737" "-2" "737" "-2" "c.737-2A>G" "r.spl" "p.?" "6i" "0000444100" "00006631" "90" "737" "-2" "737" "-2" "c.737-2A>G" "r.spl" "p.?" "6i" "0000444101" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444102" "00006631" "90" "539" "0" "539" "0" "c.539G>T" "r.(?)" "p.(Gly180Val)" "5" "0000444103" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444104" "00006631" "90" "470" "0" "470" "0" "c.470T>G" "r.(?)" "p.(Leu157Arg)" "4" "0000444105" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444106" "00006631" "90" "511" "0" "511" "0" "c.511G>C" "r.(?)" "p.(Gly171Arg)" "4" "0000444107" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444108" "00006631" "90" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Ser45Leu)" "3" "0000444109" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444110" "00006631" "90" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Arg)" "4" "0000444111" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444112" "00006631" "90" "1435" "0" "1450" "0" "c.1435_1450del" "r.(?)" "p.(Gly479Hisfs*17)" "7" "0000444113" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444114" "00006631" "90" "1435" "0" "1450" "0" "c.1435_1450del" "r.(?)" "p.(Gly479Hisfs*17)" "7" "0000444115" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444116" "00006631" "90" "54" "25" "55" "-38" "c.54+25_55-38del" "r.spl?" "p.?" "1i" "0000444117" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444118" "00006631" "90" "54" "25" "55" "-38" "c.54+25_55-38del" "r.spl?" "p.?" "1i" "0000444119" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444120" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444121" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444122" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444123" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444124" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444125" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444126" "00006631" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "4" "0000444127" "00006631" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "4" "0000444128" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444129" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444130" "00006631" "90" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Gly166Arg)" "4" "0000444131" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444132" "00006631" "90" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Gln460*)" "7" "0000444133" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444134" "00006631" "90" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Gln460*)" "7" "0000444135" "00006631" "90" "415" "0" "415" "0" "c.415G>C" "r.(?)" "p.(Val139Leu)" "4" "0000444136" "00006631" "90" "415" "0" "415" "0" "c.415G>C" "r.(?)" "p.(Val139Leu)" "4" "0000444137" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444138" "00006631" "90" "1378" "0" "1378" "0" "c.1378dup" "r.(?)" "p.(Glu460Profs*59)" "7" "0000444139" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444140" "00006631" "90" "101" "-24" "141" "0" "c.101-24_141del" "r.spl?" "p.?" "2i_3" "0000444141" "00006631" "90" "596" "0" "596" "0" "c.596del" "r.(?)" "p.(Ile199Thrfs*47)" "5" "0000444142" "00006631" "90" "325" "0" "325" "0" "c.325G>T" "r.(?)" "p.(Gly109Cys)" "3" "0000444143" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444144" "00006631" "90" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Gly166Arg)" "4" "0000444145" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444146" "00006631" "90" "7" "0" "7" "0" "c.7G>A" "r.(?)" "p.(Glu3Lys)" "1" "0000444147" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444148" "00006631" "90" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "1" "0000444149" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444150" "00006631" "90" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Gly64Arg)" "3" "0000444151" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444152" "00006631" "90" "396" "0" "396" "0" "c.396C>G" "r.(?)" "p.(His132Gln)" "4" "0000444153" "00006631" "90" "555" "0" "555" "0" "c.555del" "r.(?)" "p.(Ser186Argfs*60)" "5" "0000444154" "00006631" "90" "561" "0" "561" "0" "c.561del" "r.(?)" "p.(Glu188Argfs*58)" "5" "0000444155" "00006631" "90" "957" "0" "957" "0" "c.957del" "r.(?)" "p.(Lys320Serfs*136)" "7" "0000444156" "00006631" "90" "1263" "0" "1263" "0" "c.1263del" "r.(?)" "p.(Ser422Hisfs*34)" "7" "0000444157" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444158" "00006631" "90" "1263" "0" "1263" "0" "c.1263dup" "r.(?)" "p.(Ser422Leufs*97 )" "7" "0000444159" "00006631" "90" "1296" "0" "1311" "0" "c.1296_1311del" "r.(?)" "p.(Asp433Argfs*18)" "7" "0000444160" "00006631" "90" "1378" "0" "1378" "0" "c.1378dup" "r.(?)" "p.(Glu460Profs*59)" "7" "0000444161" "00006631" "90" "1508" "0" "1508" "0" "c.1508dup" "r.(?)" "p.(Pro504Serfs*15)" "7" "0000444162" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444163" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444164" "00006631" "90" "415" "0" "415" "0" "c.415G>C" "r.(?)" "p.(Val139Leu)" "4" "0000444165" "00006631" "90" "415" "0" "415" "0" "c.415G>C" "r.(?)" "p.(Val139Leu)" "4" "0000444166" "00006631" "90" "596" "0" "596" "0" "c.596del" "r.(?)" "p.(Ile199Thrfs*47)" "5" "0000444167" "00006631" "90" "325" "0" "325" "0" "c.325G>T" "r.(?)" "p.(Gly109Cys)" "3" "0000444168" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444169" "00006631" "90" "7" "0" "7" "0" "c.7G>A" "r.(?)" "p.(Glu3Lys)" "1" "0000444170" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444171" "00006631" "90" "48" "0" "48" "0" "c.48C>T" "r.0?" "p.0?" "1" "0000444172" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444173" "00006631" "90" "48" "0" "48" "0" "c.48C>T" "r.0?" "p.0?" "1" "0000444174" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444175" "00006631" "90" "54" "25" "55" "38" "c.54+25_55+38del" "r.spl?" "p.?" "1i" "0000444176" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444177" "00006631" "90" "54" "25" "55" "38" "c.54+25_55+38del" "r.spl?" "p.?" "1i" "0000444178" "00006631" "90" "1143" "0" "1143" "0" "c.1143dup" "r.(?)" "p.(Glu382Argfs*25)" "7" "0000444179" "00006631" "90" "54" "25" "55" "38" "c.54+25_55+38del" "r.spl?" "p.?" "1i" "0000444180" "00006631" "90" "1263" "0" "1263" "0" "c.1263del" "r.(?)" "p.(Ser422Hisfs*34)" "7" "0000444181" "00006631" "90" "54" "25" "55" "38" "c.54+25_55+38del" "r.spl?" "p.?" "1i" "0000444182" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444183" "00006631" "90" "91" "0" "91" "0" "c.91C>A" "r.(?)" "p.(Pro31Thr)" "2" "0000444184" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444185" "00006631" "90" "101" "-124" "141" "0" "c.101-124_141del" "r.spl?" "p.?" "2i_3" "0000444186" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444187" "00006631" "90" "101" "-124" "141" "0" "c.101-124_141del" "r.spl?" "p.?" "2i_3" "0000444188" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444189" "00006631" "90" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Thr77Met)" "3" "0000444190" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444191" "00006631" "90" "414" "0" "414" "0" "c.414C>T" "r.[=, 332_425del]" "p.[(=, Val111Glyfs*104)]" "4" "0000444192" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444193" "00006631" "90" "414" "0" "414" "0" "c.414C>T" "r.[=, 332_425del]" "p.[(=, Val111Glyfs*104)]" "4" "0000444194" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444195" "00006631" "90" "414" "0" "414" "0" "c.414C>T" "r.[=, 332_425del]" "p.[(=, Val111Glyfs*104)]" "4" "0000444196" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444197" "00006631" "90" "437" "0" "437" "0" "c.437del" "r.(?)" "p.(Pro146Argfs*100)" "4" "0000444198" "00006631" "90" "437" "0" "437" "0" "c.437del" "r.(?)" "p.(Pro146Argfs*100)" "4" "0000444199" "00006631" "90" "1487" "0" "1487" "0" "c.1487G>T" "r.(?)" "p.(Gly496Val)" "7" "0000444200" "00006631" "90" "437" "0" "437" "0" "c.437del" "r.(?)" "p.(Pro146Argfs*100)" "4" "0000444201" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444202" "00006631" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "4" "0000444203" "00006631" "90" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Gly161Arg)" "4" "0000444204" "00006631" "90" "1504" "0" "1505" "0" "c.1504_1505insTA" "r.(?)" "p.(Pro502Leufs*64)" "7" "0000444205" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444206" "00006631" "90" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Gly166Arg)" "4" "0000444207" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444208" "00006631" "90" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Gly171Asp)" "4" "0000444209" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444210" "00006631" "90" "513" "0" "513" "0" "c.513C>T" "r.512_532del" "p.(Gly172_Trp178del)" "4" "0000444211" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444212" "00006631" "90" "513" "0" "513" "0" "c.513C>T" "r.512_532del" "p.(Gly172_Trp178del)" "4" "0000444213" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444214" "00006631" "90" "533" "-37" "533" "-11" "c.533-37_533-11del" "r.spl?" "p.(=)" "4i" "0000444215" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444216" "00006631" "90" "533" "-37" "533" "-11" "c.533-37_533-11del" "r.spl?" "p.(=)" "5i" "0000444217" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444218" "00006631" "90" "539" "0" "539" "0" "c.539G>C" "r.(?)" "p.(Gly180Ala)" "5" "0000444219" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444220" "00006631" "90" "539" "0" "539" "0" "c.539G>C" "r.(?)" "p.(Gly180Ala)" "5" "0000444221" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444222" "00006631" "90" "548" "0" "551" "0" "c.548_551del" "r.(?)" "p.(Phe183Cysfs*62)" "5" "0000444223" "00006631" "90" "1143" "0" "1143" "0" "c.1143dup" "r.(?)" "p.(Glu382Argfs*25)" "7" "0000444224" "00006631" "90" "548" "0" "551" "0" "c.548_551del" "r.(?)" "p.(Phe183Cysfs*62)" "5" "0000444225" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444226" "00006631" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201*)" "5" "0000444227" "00006631" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201*)" "5" "0000444228" "00006631" "90" "1263" "0" "1263" "0" "c.1263del" "r.(?)" "p.(Ser422Hisfs*34)" "7" "0000444229" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444230" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444231" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444232" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444233" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444234" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444235" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444236" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444237" "00006631" "90" "1138" "0" "1138" "0" "c.1138del" "r.(?)" "p.(Ala380Profs*76)" "7" "0000444238" "00006631" "90" "1138" "0" "1138" "0" "c.1138del" "r.(?)" "p.(Ala380Profs*76)" "7" "0000444239" "00006631" "90" "1138" "0" "1138" "0" "c.1138del" "r.(?)" "p.(Ala380Profs*76)" "7" "0000444240" "00006631" "90" "1138" "0" "1138" "0" "c.1138del" "r.(?)" "p.(Ala380Profs*76)" "7" "0000444241" "00006631" "90" "1143" "0" "1143" "0" "c.1143dup" "r.(?)" "p.(Glu382Argfs*25)" "7" "0000444242" "00006631" "90" "1143" "0" "1143" "0" "c.1143dup" "r.(?)" "p.(Glu382Argfs*25)" "7" "0000444243" "00006631" "90" "1143" "0" "1143" "0" "c.1143dup" "r.(?)" "p.(Glu382Argfs*25)" "7" "0000444244" "00006631" "90" "1143" "0" "1143" "0" "c.1143dup" "r.(?)" "p.(Glu382Argfs*25)" "7" "0000444245" "00006631" "90" "1143" "0" "1143" "0" "c.1143dup" "r.(?)" "p.(Glu382Argfs*25)" "7" "0000444246" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444247" "00006631" "90" "1143" "0" "1143" "0" "c.1143del" "r.(?)" "p.(Glu382Serfs*74)" "7" "0000444248" "00006631" "90" "1143" "0" "1143" "0" "c.1143del" "r.(?)" "p.(Glu382Serfs*74)" "7" "0000444249" "00006631" "90" "1378" "0" "1378" "0" "c.1378dup" "r.(?)" "p.(Gln460Profs*59)" "7" "0000444250" "00006631" "90" "1143" "0" "1143" "0" "c.1143del" "r.(?)" "p.(Glu382Serfs*74)" "7" "0000444251" "00006631" "90" "1143" "0" "1143" "0" "c.1143del" "r.(?)" "p.(Glu382Serfs*74)" "7" "0000444252" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444253" "00006631" "90" "1185" "0" "1185" "0" "c.1185C>G" "r.(?)" "p.(Tyr395*)" "7" "0000444254" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444255" "00006631" "90" "1263" "0" "1263" "0" "c.1263dup" "r.(?)" "p.(Ser422Leufs*97)" "7" "0000444256" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444257" "00006631" "90" "1263" "0" "1263" "0" "c.1263dup" "r.(?)" 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"p.(Ser422Leufs*97)" "7" "0000444268" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444269" "00006631" "90" "1263" "0" "1263" "0" "c.1263dup" "r.(?)" "p.(Ser422Leufs*97)" "7" "0000444270" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444271" "00006631" "90" "1263" "0" "1263" "0" "c.1263dup" "r.(?)" "p.(Ser422Leufs*97)" "7" "0000444272" "00006631" "90" "1296" "0" "1311" "0" "c.1296_1311del" "r.(?)" "p.(Asp433Argfs*18)" "7" "0000444273" "00006631" "90" "1296" "0" "1311" "0" "c.1296_1311del" "r.(?)" "p.(Asp433Argfs*18)" "7" "0000444274" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444275" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444276" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444277" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444278" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444279" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444280" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444281" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444282" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444283" "00006631" "90" "1339" "0" "1342" "0" "c.1339_1342dup" "r.(?)" "p.(Gly448Alafs*72)" "7" "0000444284" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444285" "00006631" "90" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Gln460*)" "7" "0000444286" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444287" "00006631" "90" "1378" "0" "1378" "0" "c.1378dup" "r.(?)" "p.(Gln460Profs*59)" "7" "0000444288" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444289" "00006631" "90" "1378" "0" "1378" "0" "c.1378dup" "r.(?)" "p.(Gln460Profs*59)" "7" "0000444290" "00006631" "90" "1511" "0" "1513" "0" "c.1511_1513del" "r.(?)" "p.(Pro504delins182)" "7" "0000444291" "00006631" "90" "1511" "0" "1513" "0" "c.1511_1513del" "r.(?)" "p.(Pro504delins182)" "7" "0000444292" "00006631" "90" "1511" "0" "1513" "0" "c.1511_1513del" "r.(?)" "p.(Pro504delins182)" "7" "0000444293" "00006631" "90" "1511" "0" "1513" "0" "c.1511_1513del" "r.(?)" "p.(Pro504delins182)" "7" "0000444294" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444295" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444296" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444297" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444298" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444299" "00006631" "30" "42" "0" "42" "0" "c.42G>C" "r.(?)" "p.(=)" "1" "0000444300" "00006631" "30" "160" "0" "160" "0" "c.160C>T" "r.(?)" "p.(Arg54Cys)" "3" "0000444301" "00006631" "30" "282" "0" "282" "0" "c.282C>T" "r.(?)" "p.(=)" "3" "0000444302" "00006631" "30" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Ser45Leu)" "3" "0000444303" "00006631" "30" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(=)" "3" "0000444304" "00006631" "30" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Ala99Val)" "3" "0000444305" "00006631" "30" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Asp197Asn)" "5" "0000444306" "00006631" "30" "753" "0" "753" "0" "c.753G>A" "r.(?)" "p.(=)" "6" "0000444307" "00006631" "30" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "7" "0000444308" "00006631" "30" "816" "0" "816" "0" "c.816C>G" "r.(?)" "p.(His272Gln)" "7" "0000444309" "00006631" "30" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(=)" "7" "0000444310" "00006631" "30" "849" "0" "849" "0" "c.849A>C" "r.(?)" "p.(=)" "7" "0000444311" "00006631" "30" "967" "0" "967" "0" "c.967C>T" "r.(?)" "p.(Arg323Cys)" "7" "0000444312" "00006631" "30" "887" "0" "887" "0" "c.887A>G" "r.(?)" "p.(Gln296Arg)" "7" "0000444313" "00006631" "30" "1113" "0" "1113" "0" "c.1113A>C" "r.(?)" "p.(=)" "7" "0000444314" "00006631" "30" "1134" "0" "1134" "0" "c.1134G>A" "r.(?)" "p.(=)" "7" "0000444315" "00006631" "30" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(=)" "7" "0000444316" "00006631" "30" "1317" "0" "1317" "0" "c.1317C>T" "r.(?)" "p.(=)" "7" "0000444317" "00006631" "30" "1329" "0" "1329" "0" "c.1329C>T" "r.(?)" "p.(=)" "7" "0000444318" "00006631" "30" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Gly461Asp)" "7" "0000444319" "00006631" "30" "1507" "0" "1507" "0" "c.1507C>A" "r.(?)" "p.(Pro503Thr)" "7" "0000444320" "00006631" "30" "1020" "0" "1020" "0" "c.1020C>T" "r.(?)" "p.(=)" "7" "0000444321" "00006631" "30" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Glu382Lys)" "7" "0000444322" "00006631" "30" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Arg402Gln)" "7" "0000444323" "00006631" "30" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Pro415Ser)" "7" "0000444324" "00006631" "30" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Ala440Thr)" "7" "0000444325" "00006631" "30" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451Trp)" "7" "0000444326" "00006631" "90" "1143" "0" "1143" "0" "c.1143dup" "r.(?)" "p.(Glu382Argfs*25)" "7" "0000444327" "00006631" "70" "1412" "0" "1412" "0" "c.1412dup" "r.(?)" "p.(Gly472Trpfs*47)" "7" "0000444328" "00006631" "90" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Gly161Arg)" "4" "0000444329" "00006631" "70" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Gly127Ser)" "4" "0000444330" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444331" "00006631" "90" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Gly161Arg)" "4" "0000444332" "00006631" "70" "1511" "0" "1513" "0" "c.1511_1513del" "r.(?)" "p.(Pro504delins182)" "7" "0000444333" "00006631" "70" "1511" "0" "1513" "0" "c.1511_1513del" "r.(?)" "p.(Pro504delins182)" "7" "0000444334" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444335" "00006631" "70" "332" "-1" "332" "-1" "c.332-1G>T" "r.spl" "p.?" "4i" "0000444336" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "7" "0000444337" "00006631" "70" "772" "2" "772" "4" "c.772+2_772+4delinsCCGGGCAGGCGGGCA" "r.spl" "p.?" "6i" "0000444338" "00006631" "50" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451Trp)" "7" "0000444339" "00006631" "50" "101" "-19" "101" "-19" "c.101-19A>G" "r.spl" "p.(=)" "2i" "0000444340" "00006631" "30" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.Ala378Serfs*30" "7" "0000444341" "00006631" "70" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.Ala378Serfs*30" "7" "0000444342" "00006631" "90" "101" "0" "532" "0" "c.101_532del" "r.(?)" "p.Asp34_Trp178delinsGly" "3" "0000444343" "00006631" "90" "101" "0" "772" "0" "c.101_772del" "r.(?)" "p.Asp34_Gly257del" "3" "0000444344" "00006631" "90" "101" "0" "331" "0" "c.101_331del" "r.(?)" "p.Asp34_Glu110del" "3" "0000444345" "00006631" "70" "596" "0" "596" "0" "c.596del" "r.(?)" "p.Ile199Thrfs*47" "5" "0000444346" "00006631" "70" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.Arg201*" "5" "0000444347" "00006631" "90" "1001" "0" "1011" "0" "c.1001_1011dup" "r.(?)" "p.Ser338Alafs*122" "7" "0000444348" "00006631" "90" "1139" "0" "1141" "0" "c.1139_1141delinsA" "r.(?)" "p.Ala380Aspfs*26" "7" "0000444349" "00006631" "90" "1237" "0" "1237" "0" "c.1237dup" "r.(?)" "p.Leu413Profs*4" "7" "0000444350" "00006631" "30" "1263" "0" "1263" "0" "c.1263dup" "r.(?)" "p.Ser422Leufs*97" "7" "0000444351" "00006631" "90" "1378" "0" "1378" "0" "c.1378dup" "r.(?)" "p.Gln460Profs*59" "7" "0000444352" "00006631" "90" "1513" "0" "1513" "0" "c.1513T>C" "r.(?)" "p.*505Argext*182" "7" "0000444353" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.Ala378Serfs*30" "7" "0000444354" "00006631" "90" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.Ala33Val" "2" "0000444355" "00006631" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.Arg158Gln" "4" "0000444356" "00006631" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.Arg158Gln" "4" "0000444357" "00006631" "90" "0" "0" "0" "0" "c.?" "-" "p.Arg158Ala" "4" "0000444358" "00006631" "90" "0" "0" "0" "0" "c.?" "-" "p.Arg159Ala" "4" "0000444359" "00006631" "90" "0" "0" "0" "0" "c.?" "-" "p.Arg174Ala" "4" "0000444360" "00006631" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.Arg201*" "5" "0000444361" "00006631" "70" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.Ala378Serfs*30" "7" "0000444362" "00006631" "90" "0" "0" "0" "0" "c.?" "-" "p.Leu241Ala" "6" "0000444363" "00006631" "70" "0" "0" "0" "0" "c.?" "-" "p.Leu245Ala" "6" "0000444364" "00006631" "30" "0" "0" "0" "0" "c.?" "-" "p.Leu248Ala" "6" "0000444365" "00006631" "70" "0" "0" "0" "0" "c.?" "-" "p.Tyr395Phe" "7" "0000444366" "00006631" "70" "0" "0" "0" "0" "c.?" "-" "p.Tyr405Phe" "7" "0000444367" "00006631" "70" "0" "0" "0" "0" "c.?" "-" "p.Tyr395Phe" "7" "0000444368" "00006631" "70" "0" "0" "0" "0" "c.?" "-" "p.Tyr405Phe" "7" "0000444369" "00006631" "70" "1143" "0" "1143" "0" "c.1143dup" "r.(?)" "p.Glu382Argfs*25" "7" "0000444370" "00006631" "30" "0" "0" "0" "0" "c.?" "-" "p.Pro421*" "7" "0000444371" "00006631" "90" "7" "0" "7" "0" "c.7G>A" "r.(?)" "p.Glu3Lys" "1" "0000444372" "00006631" "90" "91" "0" "91" "0" "c.91C>A" "r.(?)" "p.Pro31Thr" "2" "0000444373" "00006631" "90" "415" "0" "415" "0" "c.415G>C" "r.(?)" "p.Val139Leu" "4" "0000444374" "00006631" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.Arg158Gln" "4" "0000444375" "00006631" "90" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.Gly161Arg" "4" "0000444376" "00006631" "90" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.Gly166Arg" "4" "0000444377" "00006631" "90" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.Gly171Asp" "4" "0000444378" "00006631" "90" "539" "0" "539" "0" "c.539G>C" "r.(?)" "p.Gly180Ala" "5" "0000444379" "00006631" "90" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.Ala378Serfs*30" "7" "0000444380" "00006631" "90" "325" "0" "325" "0" "c.325G>T" "r.(?)" "p.Gly109Cys" "3" "0000444381" "00006631" "90" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.Thr77Met" "3" "0000444382" "00006631" "90" "176" "0" "206" "0" "c.176_206delinsAG" "r.(?)" "p.(Leu59GlnfsTer24)" "3" "0000444383" "00006631" "90" "176" "0" "206" "0" "c.176_206delinsAG" "r.(?)" "p.(Leu59GlnfsTer24)" "3" "0000444384" "00006631" "90" "176" "0" "206" "0" "c.176_206delinsAG" "r.?)" "p.(Leu59GlnfsTer24)" "3" "0000522485" "00006631" "10" "220" "0" "220" "0" "c.220=" "r.(=)" "p.(Leu74=)" "" "0000522487" "00006631" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Pro214Leu)" "" "0000522490" "00006631" "30" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Thr282=)" "" "0000522494" "00006631" "30" "1496" "0" "1496" "0" "c.1496A>G" "r.(?)" "p.(Lys499Arg)" "" "0000609205" "00006631" "30" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Arg)" "" "0000651471" "00006631" "50" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Ala99Val)" "" "0000651472" "00006631" "50" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Cys)" "" "0000653331" "00006631" "90" "957" "0" "957" "0" "c.957del" "r.(?)" "p.(Lys320Serfs*136)" "" "0000655143" "00006631" "50" "1263" "0" "1263" "0" "c.1263del" "r.(?)" "p.(Ser422HisfsTer34)" "" "0000677267" "00006631" "30" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(Ala277=)" "" "0000677268" "00006631" "50" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325Trp)" "" "0000677269" "00006631" "30" "8758" "0" "8758" "0" "c.*7243G>A" "r.(=)" "p.(=)" "" "0000686015" "00006631" "90" "930" "0" "933" "0" "c.930_933del" "r.(?)" "p.(Met311Trpfs*144)" "7" "0000697499" "00006631" "70" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378Serfs*30)" "" "0000719897" "00006631" "10" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Ser45Leu)" "" "0000719898" "00006631" "70" "1124" "0" "1127" "0" "c.1124_1127dup" "r.(?)" "p.(Ala378SerfsTer30)" "" "0000719899" "00006631" "50" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Gly436Ser)" "" "0000719900" "00006631" "30" "8714" "0" "8714" "0" "c.*7199G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 472 "{{screeningid}}" "{{variantid}}" "0000035705" "0000062830" "0000035706" "0000062831" "0000035707" "0000062832" "0000035708" "0000062833" "0000035709" "0000062834" "0000035710" "0000062835" "0000035711" "0000062836" "0000035712" "0000062837" "0000035713" "0000062838" "0000035714" "0000062839" "0000035715" "0000062840" "0000035716" "0000062841" "0000035717" "0000062842" "0000035718" "0000062843" "0000035719" "0000062844" "0000035720" "0000062845" "0000035721" "0000062846" "0000035722" "0000062847" "0000035723" "0000062848" "0000035724" "0000062849" "0000035725" "0000062850" "0000035726" "0000062851" "0000035727" "0000062852" "0000035728" "0000062853" "0000035729" "0000062854" "0000035730" "0000062855" "0000035731" "0000062856" "0000035732" "0000062857" "0000035733" "0000062858" "0000035734" "0000062859" 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