### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = JAG1) # 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}}" "JAG1" "jagged 1" "20" "p12.1-p11.23" "unknown" "NG_007496.1" "UD_132084399175" "" "http://www.LOVD.nl/JAG1" "" "1" "6188" "182" "601920" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/JAG1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2010-04-20 00:00:00" "00006" "2015-01-24 10:18:10" "00000" "2025-08-04 10:03:03" ## 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}}" "00000084" "JAG1" "jagged 1" "001" "NM_000214.2" "" "NP_000205.1" "" "" "" "-516" "5471" "3657" "10654694" "10618332" "00002" "2012-05-11 13:12:02" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00389" "TOF" "tetralogy of Fallot (TOF)" "AD" "187500" "" "" "" "00006" "2014-05-30 08:58:25" "00006" "2021-10-27 15:03:22" "00750" "ALGS1" "Alagille syndrome, type 1 (ALGS1)" "AD" "118450" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01027" "DCHE" "deafness, congenital heart defects, posterior embryotoxon (DCHE)" "" "617992" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-06-07 11:51:21" "03360" "AIS6" "autoimmune disease, susceptibility to, type 6 (AIS-6)" "" "613551" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04240" "EVR;FEVR" "vitreoretinopathy, exudative (EVR; familial FVER))" "" "" "" "" "" "00006" "2015-04-10 12:38:11" "00006" "2019-07-31 13:55:30" "06495" "RLSDF" "Rhizomelic limb shortening with dysmorphic features" "AR" "618821" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "JAG1" "00139" "JAG1" "00389" "JAG1" "00750" "JAG1" "01027" ## Individuals ## Do not remove or alter this header ## ## Count = 1078 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00000030" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00001820" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00080970" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00228270" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00239004" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "" "" "0" "" "" "" "" "00239005" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00239006" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00239007" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00239008" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "United States" "" "0" "" "" "" "" "00239009" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00239010" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239011" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat1" "00239012" "" "" "" "1" "" "00006" "{PMID:Bauer 2010:20437614}" "" "" "" "United States" "" "0" "" "" "" "Pat5" "00239013" "" "" "" "1" "" "00006" "484122" "" "" "" "United States" "" "0" "" "" "" "A59jf" "00239014" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239016" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00239050" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A68r" "00239052" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00239055" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00239056" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239058" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239061" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00239062" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239065" "" "" "" "1" "" "03298" "" "" "" "" "" "" "0" "" "" "" "" "00239071" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00239072" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239074" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00239076" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00239077" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat2" "00239079" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00239083" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}, {PMID:Krantz 1999:10213047}" "seen in a second proband in our cohort." "" "" "United States" "" "0" "" "" "" "Pat19/ME" "00239089" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00239098" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00239100" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat3" "00239101" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239102" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00239103" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00239241" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239242" "" "" "" "1" "" "00006" "{PMID:Oda 1997:9207787}" "" "" "" "United States" "" "0" "" "" "" "FamG" "00239243" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239244" "" "" "" "1" "" "00006" "{PMID:Oda 1997:9207787}" "" "" "" "United States" "" "0" "" "" "" "FamB" "00239245" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239246" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239247" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239248" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239249" "" "" "" "1" "" "00006" "{PMID:Li 1997:9207788}" "" "M" "" "United States" "" "0" "" "" "" "Fam2" "00239250" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239251" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239252" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239253" "" "" "" "1" "" "00006" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "" "00239254" "" "" "" "1" "" "00006" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "" "00239255" "" "" "" "1" "" "00006" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "" "00239256" "" "" "" "1" "" "00006" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "" "00239257" "" "" "" "1" "" "00006" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "" "00239258" "" "" "" "1" "" "00006" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat59" "00239259" "" "" "" "1" "" "00006" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "" "00239260" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239261" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239262" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239263" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239264" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat61" "00239265" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239266" "" "" "" "1" "" "00006" "{PMID:Liu 2007:17241866}" "" "" "" "United States" "" "0" "" "" "" "Pat6" "00239267" "" "" "" "1" "" "00006" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "" "00239268" "" "" "" "1" "" "00006" "{PMID:Liu 2007:17241866}" "" "" "" "United States" "" "0" "" "" "" "Pat5" "00239269" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239270" "" "" "" "2" "" "00006" "{PMID:Kamath 2002:12244555}" "affected monozygotic twins" "M" "" "United States" "" "0" "" "" "" "twins" "00239271" "" "" "" "1" "" "00006" "{PMID:Liu 2007:17241866}" "" "" "" "United States" "" "0" "" "" "" "Pat7" "00239272" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "" "00239273" "" "" "" "1" "" "00006" "{PMID:Liu 2007:17241866}" "" "" "" "United States" "" "0" "" "" "" "Pat4" "00239274" "" "" "" "1" "" "00006" "{PMID:Raas-Rothschild 2002:12239725}" "" "M" "" "Israel" "" "0" "" "" "Arab Muslim" "patient" "00239275" "" "" "" "2" "" "00006" "{PMID:Pilia 1999:10533065}" "family" "" "" "Italy" "" "0" "" "" "" "Pat15" "00239276" "" "" "" "1" "" "00006" "{PMID:Onouchi 1999:10429362}" "" "" "" "Japan" "" "0" "" "" "" "Pat8" "00239277" "" "" "" "1" "" "00006" "{PMID:Yuan 1998:9700188}" "" "" "" "Japan" "" "0" "" "" "" "FamA4" "00239278" "" "" "" "2" "" "00006" "{PMID:Yuan 1998:9700188}" "2-generation family, affected father/daughter" "F;M" "" "Japan" "" "0" "" "" "" "FamN3" "00239279" "" "" "" "2" "" "00006" "{PMID:Yuan 1998:9700188}" "2-generation family, affected mother/daughter" "F" "" "Japan" "" "0" "" "" "" "FamY3" "00239280" "" "" "" "3" "" "00006" "{PMID:Yuan 1998:9700188}" "32-generation family, affected father and 2 daughters" "F;M" "" "Japan" "" "0" "" "" "" "FamS5" "00239281" "" "" "" "3" "" "00006" "{PMID:Yuan 1998:9700188}" "2-generation family, affected father/twin brothers" "M" "" "Japan" "" "0" "" "" "" "FamO4" "00239282" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A148" "00239283" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A125r" "00239284" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A179" "00239285" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A13jf" "00239286" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A156" "00239287" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A131r" "00239288" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A65r" "00239289" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A180" "00239290" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A98v" "00239291" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A8r" "00239292" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A177" "00239293" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A44n" "00239294" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A79v" "00239295" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A114r" "00239296" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A89r" "00239297" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A55n" "00239298" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A122v" "00239299" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A133r" "00239300" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A78r" "00239301" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A145" "00239302" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A57n" "00239303" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A218" "00239304" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A158" "00239305" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A52r" "00239306" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A53n" "00239307" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A15r" "00239308" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A132r" "00239309" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A159" "00239310" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A52n" "00239311" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A28r" "00239312" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A16v" "00239313" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A93r" "00239314" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A223" "00239315" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A71v" "00239316" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A83r" "00239317" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A161" "00239318" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A45v" "00239319" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A45r" "00239320" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A22r" "00239321" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A50n" "00239322" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A97r" "00239323" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A101r" "00239324" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A106v" "00239325" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A2r" "00239326" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A50v" "00239327" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A128r" "00239328" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A119r" "00239329" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A53v" "00239330" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A110v" "00239331" "" "" "" "1" "" "00006" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A152" "00239332" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat8" "00239333" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat9" "00239334" "" "" "" "1" "" "00006" "{PMID:Onouchi 1999:10429362}" "" "" "" "Japan" "" "0" "" "" "" "Pat2" "00239335" "" "" "" "1" "" "00006" "{PMID:Onouchi 1999:10429362}" "" "" "" "Japan" "" "0" "" "" "" "Pat4" "00239336" "" "" "" "1" "" "00006" "{PMID:Onouchi 1999:10429362}" "" "" "" "Japan" "" "0" "" "" "" "Pat5" "00239337" "" "" "" "1" "" "00006" "{PMID:Onouchi 1999:10429362}" "" "" "" "Japan" "" "0" "" "" "" "Pat7" "00239338" "" "" "" "1" "" "00006" "{PMID:Pilia 1999:10533065}" "" "" "" "Italy" "" "0" "" "" "" "Pat2" "00239339" "" "" "" "1" "" "00006" "{PMID:Pilia 1999:10533065}" "" "" "" "Italy" "" "0" "" "" "" "Pat6" "00239340" "" "" "" "1" "" "00006" "{PMID:Pilia 1999:10533065}" "" "" "" "Italy" "" "0" "" "" "" "Pat1" "00239341" "" "" "" "1" "" "00006" "{PMID:Pilia 1999:10533065}" "" "" "" "Italy" "" "0" "" "" "" "Pat7" "00239342" "" "" "" "1" "" "00006" "{PMID:Pilia 1999:10533065}" "" "" "" "Italy" "" "0" "" "" "" "Pat5" "00239343" "" "" "" "1" "" "00006" "{PMID:Pilia 1999:10533065}" "" "" "" "Italy" "" "0" "" "" "" "Pat8" "00239344" "" "" "" "1" "" "00006" "{PMID:Pilia 1999:10533065}" "" "" "" "Italy" "" "0" "" "" "" "Pat9" "00239345" "" "" "" "1" "" "00006" "{PMID:Pilia 1999:10533065}" "" "" "" "Italy" "" "0" "" "" "" "Pat11" "00239346" "" "" "" "1" "" "00006" "{PMID:Pilia 1999:10533065}" "" "" "" "Italy" "" "0" "" "" "" "Pat12" "00239347" "" "" "" "1" "" "00006" "{PMID:Pilia 1999:10533065}" "" "" "" "Italy" "" "0" "" "" "" "Pat10" "00239348" "" "" "" "1" "" "00006" "{PMID:Pilia 1999:10533065}" "" "" "" "Italy" "" "0" "" "" "" "Pat4" "00239349" "" "" "" "1" "" "00006" "{PMID:Pilia 1999:10533065}" "" "" "" "Italy" "" "0" "" "" "" "Pat14" "00239350" "" "" "" "1" "" "00006" "{PMID:Heritage 2000:11058898}" "" "" "" "Australia" "" "0" "" "" "" "Pat10-2-1" "00239351" "" "" "" "1" "" "00006" "{PMID:Heritage 2000:11058898}" "" "" "" "Australia" "" "0" "" "" "" "Pat2-2-1" "00239352" "" "" "" "1" "" "00006" "{PMID:Heritage 2000:11058898}" "" "" "" "Australia" "" "0" "" "" "" "Pat9-2-1" "00239353" "" "" "" "1" "" "00006" "{PMID:Heritage 2000:11058898}" "" "" "" "Australia" "" "0" "" "" "" "Pat11-2-1" "00239354" "" "" "" "1" "" "00006" "{PMID:Heritage 2000:11058898}" "" "" "" "Australia" "" "0" "" "" "" "Pat3-2-3" "00239355" "" "" "" "1" "" "00006" "{PMID:Heritage 2000:11058898}" "" "" "" "Australia" "" "0" "" "" "" "Pat18-2-1" "00239356" "" "" "" "1" "" "00006" "{PMID:Heritage 2000:11058898}" "" "" "" "Australia" "" "0" "" "" "" "Pat12-2-1" "00239357" "" "" "" "1" "" "00006" "{PMID:Heritage 2002:12442286}" "" "" "" "Australia" "" "0" "" "" "" "Pat30-2-1" "00239358" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A260" "00239359" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A258" "00239360" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A9v" "00239361" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A323" "00239362" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A265" "00239363" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A326" "00239364" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A265" "00239365" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A305" "00239366" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A233" "00239367" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A257" "00239368" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A322" "00239369" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A235" "00239370" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A259" "00239371" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A280" "00239372" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A217" "00239373" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A287" "00239374" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239375" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239376" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239377" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239378" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239379" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239380" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239381" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239382" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239383" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239384" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239385" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239386" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239387" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239388" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239389" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239390" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239391" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239392" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239393" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239394" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239395" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00239396" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239397" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239398" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239399" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239400" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239401" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239402" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239403" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "has an affected cousin" "" "" "" "" "0" "" "" "" "" "00239404" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239405" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239406" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239407" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239408" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239409" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239410" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239411" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "has two affected children" "" "" "" "" "0" "" "" "" "" "00239412" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239413" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00239414" "" "" "" "1" "" "00006" "{PMID:Colliton 2001:11180599}" "" "" "" "United States" "" "0" "" "" "" "" "00239415" "" "" "" "2" "" "00006" "{PMID:Giannakudis 2001:11313761}" "mother (mosaic) with two affected children" "" "" "" "" "0" "" "" "" "Fam1" "00239416" "" "" "" "6" "" "00006" "{PMID:Giannakudis 2001:11313761}" "3-generation family, 6 affected (F, 5M), mosaic mother/grandmother" "F;M" "" "" "" "0" "" "" "" "Fam5" "00239417" "" "" "" "1" "" "00006" "{PMID:Giannakudis 2001:11313761}" "mother (mosaic) and affected son" "M" "" "" "" "0" "" "" "" "Fam4" "00239418" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "Pat3" "00239419" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "Pat1" "00239420" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "Pat10" "00239421" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "Pat13" "00239422" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "Pat2" "00239423" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "Pat17" "00239424" "" "" "" "1" "" "00006" "{PMID:Heritage 2002:12442286}" "" "" "" "Australia" "" "0" "" "" "" "Pat24-2-1" "00239425" "" "" "" "1" "" "00006" "{PMID:Heritage 2002:12442286}" "" "" "" "Australia" "" "0" "" "" "" "Pat35-2-1" "00239426" "" "" "" "3" "" "00006" "{PMID:Heritage 2002:12442286}" "mother/2 affected children" "" "" "Australia" "" "0" "" "" "" "Pat8-2-2 /8-3-1/3" "00239427" "" "" "" "1" "" "00006" "{PMID:Heritage 2002:12442286}" "" "" "" "Australia" "" "0" "" "" "" "Pat26-2-1" "00239428" "" "" "" "2" "" "00006" "{PMID:Heritage 2002:12442286}" "affected mother/child" "" "" "Australia" "" "0" "" "" "" "Pat22-1-2/22-2-1" "00239429" "" "" "" "2" "" "00006" "{PMID:Heritage 2002:12442286}" "2 affected sibs" "" "" "Australia" "" "0" "" "" "" "Pat23-2-2/23-2-1" "00239430" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat76" "00239431" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat41" "00239432" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat29" "00239433" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat1" "00239434" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat26" "00239435" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat20" "00239436" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat88" "00239437" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat68" "00239438" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat8" "00239439" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat58" "00239440" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat101" "00239441" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat65" "00239442" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat34" "00239443" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat11" "00239444" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat6" "00239445" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat71" "00239446" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat39" "00239447" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat46" "00239448" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat32" "00239449" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat2" "00239450" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat85" "00239451" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat19" "00239452" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat80" "00239453" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat83" "00239454" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat37" "00239455" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat27" "00239456" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat15" "00239457" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat78" "00239458" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat25" "00239459" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat35" "00239460" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat70" "00239461" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat81" "00239462" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat17" "00239463" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat69" "00239464" "" "" "" "1" "" "00006" "{PMID:Ropke 2003:12497640}" "" "" "" "Germany" "" "0" "" "" "" "Pat30" "00239465" "" "" "" "2" "" "00006" "{PMID:Witt 2004:14676605}" "2-generation family, affected mother/son" "F;M" "" "Turkey" "" "0" "" "" "" "family" "00239466" "" "" "" "2" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "family, 2 affected sibs" "" "" "Poland" "" "0" "" "" "" "Pat15/16" "00239467" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat10" "00239468" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat17" "00239469" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat4" "00239470" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat7" "00239471" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat5" "00239472" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat14" "00239473" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat3" "00239474" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat1" "00239475" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat2" "00239476" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A94v" "00239477" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A265" "00239478" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A376" "00239479" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239480" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239481" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239482" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239483" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239484" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239485" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239486" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239487" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239488" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239489" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239490" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239491" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239492" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239493" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239494" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239495" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239496" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239497" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239498" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239499" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239500" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239501" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239502" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239503" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239504" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239505" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239506" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239507" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239508" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239509" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239510" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239511" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239516" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239517" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239518" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239519" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239520" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239521" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239522" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239523" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239524" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00239525" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239526" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239527" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "" "" "" "" "0" "" "" "" "" "00239528" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239529" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239530" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239531" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239533" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239534" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239535" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239536" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}, {PMID:Agrawal 2015:25596152}" "" "" "" "" "" "0" "" "" "" "" "00239537" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239538" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239539" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239540" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239541" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239542" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239543" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239544" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239545" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239546" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239547" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239548" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239549" "" "" "" "1" "" "00006" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00239550" "" "" "" "1" "" "00006" "{PMID:Liu 2007:17241866}" "" "" "" "United States" "" "0" "" "" "" "Pat17" "00239551" "" "" "" "3" "" "00006" "{PMID:Jung 2007:17414143}" "mother and 2 affected fetuses" "" "" "France" "" "0" "" "" "" "Fam12" "00239552" "" "" "" "1" "" "00006" "{PMID:Bourdeaut 2008:17584876}" "" "" "" "France" "" "0" "" "" "" "Pat2" "00239558" "" "" "" "3" "" "00006" "{PMID:El-Rassy 2008:18266235}" "family, 3 affected" "" "" "Lebanon" "" "0" "" "" "" "" "00239559" "" "" "" "1" "" "00006" "{PMID:Al-Gazali 2010:20437613}" "" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00239560" "" "" "" "1" "" "00006" "{PMID:Wang 2010:20632836}" "" "F" "" "China" "" "0" "" "" "" "patient" "00239561" "" "" "" "1" "" "00006" "{PMID:Conidi 2008:18846679}" "" "" "" "" "" "0" "" "" "" "" "00239562" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694043}" "" "" "" "" "" "0" "" "" "" "" "00239563" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694036}" "" "" "" "" "" "0" "" "" "" "" "00239564" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694039}" "" "" "" "" "" "0" "" "" "" "" "00239565" "" "" "" "1" "" "00006" "{PMID:Conidi 2008:18846680}" "" "" "" "" "" "0" "" "" "" "" "00239566" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694044}" "" "" "" "" "" "0" "" "" "" "" "00239567" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694046}" "" "" "" "" "" "0" "" "" "" "" "00239568" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694046}" "" "" "" "" "" "0" "" "" "" "" "00239569" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694051}" "" "" "" "" "" "0" "" "" "" "" "00239570" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694048}" "" "" "" "" "" "0" "" "" "" "" "00239571" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694053}" "" "" "" "" "" "0" "" "" "" "" "00239572" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694056}" "" "" "" "" "" "0" "" "" "" "" "00239573" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694054}" "" "" "" "" "" "0" "" "" "" "" "00239574" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694049}" "" "" "" "" "" "0" "" "" "" "" "00239575" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694053}" "" "" "" "" "" "0" "" "" "" "" "00239576" "" "" "" "1" "" "00006" "{PMID:Ellison 2009:19693994}" "" "" "" "" "" "0" "" "" "" "" "00239577" "" "" "" "1" "" "00006" "{PMID:Glaeser 2005:15988824}" "" "" "" "" "" "0" "" "" "" "" "00239578" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694051}" "" "" "" "" "" "0" "" "" "" "" "00239579" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694055}" "" "" "" "" "" "0" "" "" "" "" "00239580" "" "" "" "1" "" "00006" "{PMID:Conidi 2008:18846686}" "" "" "" "" "" "0" "" "" "" "" "00239581" "" "" "" "1" "" "00006" "{PMID:Marchetti 2009:19694048}" "" "" "" "" "" "0" "" "" "" "" "00239582" "" "" "" "1" "" "00006" "{PMID:Rauch 2010:19948535}" "" "" "" "Switzerland" "" "0" "" "" "" "" "00239583" "" "" "" "1" "" "00006" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Japan" "" "0" "" "" "" "" "00239584" "" "" "" "1" "" "00006" "{PMID:Kohsaka 2002:12297837}" "" "F" "" "Japan" "" "0" "" "" "" "Case10" "00239585" "" "" "" "1" "" "00006" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Japan" "" "0" "" "" "" "" "00239586" "" "" "" "1" "" "00006" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Japan" "" "0" "" "" "" "" "00239587" "" "" "" "1" "" "00006" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Japan" "" "0" "" "" "" "" "00239588" "" "" "" "1" "" "00006" "{PMID:Kohsaka 2002:12297837}" "" "M" "" "Japan" "" "0" "" "" "" "Case1" "00239589" "" "" "" "1" "" "00006" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Japan" "" "0" "" "" "" "" "00239590" "" "" "" "1" "" "00006" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Japan" "" "0" "" "" "" "" "00239591" "" "" "" "1" "" "00006" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Japan" "" "0" "" "" "" "" "00239592" "" "" "" "1" "" "00006" "{PMID:Kung 2010:20096396}" "" "" "" "" "" "0" "" "" "" "" "00239593" "" "" "" "1" "" "00006" "{PMID:Matte 2010:20683201}" "" "" "" "Brazil" "" "0" "" "" "" "CUE-2" "00239594" "" "" "" "1" "" "00006" "{PMID:Matte 2010:20683201}" "" "" "" "Brazil" "" "0" "" "" "" "CUE-1" "00239595" "" "" "" "1" "" "00006" "{PMID:Le Caignec 2002:12022040}" "" "" "" "" "" "0" "" "" "" "" "00239596" "" "" "" "1" "" "00006" "{PMID:Bauer 2010:20437614}" "" "" "" "United States" "" "0" "" "" "" "Pat4" "00239597" "" "" "" "1" "" "00006" "{PMID:Eldadah 2001:11152664}" "" "" "" "" "" "0" "" "" "" "" "00239598" "" "" "" "1" "" "00006" "{PMID:Bauer 2010:20437614}" "" "" "" "United States" "" "0" "" "" "" "Pat6" "00239599" "" "" "" "1" "" "00006" "{PMID:Bauer 2010:20437614}" "" "" "" "United States" "" "0" "" "" "" "Pat2" "00239600" "" "" "" "1" "" "00006" "{PMID:Bauer 2010:20437614}" "" "" "" "United States" "" "0" "" "" "" "Pat1" "00239601" "" "" "" "1" "" "00006" "{PMID:Guida 2011:22040217}" "" "" "" "Italy" "" "0" "" "" "" "TF4" "00239602" "" "" "" "1" "" "00006" "{PMID:Glaeser 2006:17128462}" "" "" "" "" "" "0" "" "" "" "" "00239603" "" "" "" "1" "" "00006" "{PMID:Glaeser 2006:17128462}" "" "" "" "" "" "0" "" "" "" "" "00239604" "" "" "" "1" "" "00006" "{PMID:Kola 2011:21893051}" "" "" "" "India" "" "0" "" "" "" "" "00239605" "" "" "" "1" "" "00006" "{PMID:Kola 2011:21893051}" "" "" "" "India" "" "0" "" "" "" "" "00239606" "" "" "" "1" "" "00006" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat6" "00239607" "" "" "" "2" "" "00006" "{PMID:Krantz 1998:9585603}" "family" "" "" "United States" "" "0" "" "" "" "Pat23" "00239608" "" "" "" "2" "" "00006" "{PMID:Krantz 1998:9585603}" "family" "" "" "United States" "" "0" "" "" "" "Pat24" "00239609" "" "" "" "2" "" "00006" "{PMID:Krantz 1998:9585603}" "family" "" "" "United States" "" "0" "" "" "" "Pat29" "00239610" "" "" "" "2" "" "00006" "{PMID:Krantz 1998:9585603}" "family" "" "" "United States" "" "0" "" "" "" "Pat60" "00239611" "" "" "" "1" "" "00006" "{PMID:Onouchi 1999:10429362}" "" "" "" "Japan" "" "0" "" "" "" "Pat6" "00239612" "" "" "" "2" "" "00006" "{PMID:Krantz 1998:9585603}" "family" "" "" "United States" "" "0" "" "" "" "Pat10" "00239613" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat6" "00239614" "" "" "" "1" "" "00006" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat13" "00239616" "" "" "" "2" "" "00006" "{PMID:Yuan 1998:9700188}" "2-generation family, affected father/son" "M" "" "Japan" "" "0" "" "" "" "FamD3" "00239617" "" "" "" "1" "" "00006" "{PMID:Yuan 1998:9700188}" "" "" "" "Japan" "" "0" "" "" "" "FamE3" "00239618" "" "" "" "1" "" "00006" "{PMID:Kola 2011:21893051}" "" "" "" "India" "" "0" "" "" "" "" "00239619" "" "" "" "1" "" "00006" "{PMID:Kola 2011:21893051}" "" "" "" "India" "" "0" "" "" "" "" "00239620" "" "" "" "1" "" "00006" "{PMID:Rauch 2010:19948535}" "" "" "" "Switzerland" "" "0" "" "" "" "" "00239621" "" "" "" "1" "" "00006" "{PMID:Rauch 2010:19948535}" "" "" "" "Switzerland" "" "0" "" "" "" "" "00240140" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00249422" "" "" "" "1" "" "02950" "" "" "F" "" "" ">00y00m12d" "0" "" "" "" "" "00262062" "" "" "" "1" "" "03382" "{PMID:Zhang 2019:31273345}" "2-generation family, affected father/daughter" "F" "no" "China" "21y" "0" "yes" "" "" "Patient 1" "00262083" "" "" "" "1" "" "03382" "{PMID:Zhang 2019 : 31273345 }" "2-generation family, affected mother/son" "M" "no" "China" "" "0" "yes" "" "" "Patient 2" "00262085" "" "" "" "1" "" "03382" "{PMID:Zhang 2019 : 31273345 }" "2-generation family, affected mother/son" "M" "no" "China" "?" "0" "" "" "" "Patient 3" "00263479" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263480" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263481" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "United States" "" "0" "" "" "" "" "00263482" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "United States" "" "0" "" "" "" "" "00263484" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00263485" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00263486" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263487" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263488" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263489" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263490" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263491" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263492" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263493" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263494" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263495" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "deletion of exon 3 confirmed by cDNA" "" "" "" "" "0" "" "" "" "" "00263497" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263498" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263499" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00263500" "" "" "" "1" "" "03298" "" "Has an affected cousin" "" "" "" "" "0" "" "" "" "" "00263501" "" "" "" "1" "" "03298" "" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00263502" "" "" "" "1" "" "03298" "" "has two affected children" "" "" "" "" "0" "" "" "" "" "00263503" "" "" "" "1" "" "03298" "" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00263504" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00263505" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00263506" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat15" "00263507" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263508" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263509" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}, {PMID:Tada 2012:22487239}" "" "" "" "United States" "" "0" "" "" "" "Pat56" "00263510" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263511" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263512" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263513" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263514" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263515" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263517" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263518" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat55" "00263519" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263520" "" "" "" "1" "" "03298" "{PMID:Li 1997:9207788}" "" "" "" "United States" "" "0" "" "" "" "FamPatII1" "00263521" "" "" "" "1" "" "03298" "{PMID:Li 1997:9207788}" "" "" "" "United States" "" "0" "" "" "" "son" "00263522" "" "" "" "1" "" "03298" "{PMID:Li 1997:9207788}" "" "" "" "United States" "" "0" "" "" "" "son" "00263523" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263524" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263525" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263526" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263527" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263528" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263529" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263530" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat28" "00263531" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263532" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263533" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263534" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263535" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263536" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263539" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263540" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263541" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "has an affected child" "" "" "" "" "0" "" "" "" "" "00263542" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "has an affected child and an affected grandchild" "" "" "" "" "0" "" "" "" "" "00263543" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263544" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263545" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263546" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263548" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "United States" "" "0" "" "" "" "" "00263549" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "United States" "" "0" "" "" "" "" "00263550" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263552" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263553" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263554" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat5" "00263555" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263556" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263557" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "" "" "" "" "0" "" "" "" "" "00263558" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00263559" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "has two affected children" "" "" "" "" "0" "" "" "" "" "00263560" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00263561" "" "" "" "1" "" "03298" "{PMID:Oda 1997:9207787}" "" "" "" "United States" "" "0" "" "" "" "FamF" "00263562" "" "" "" "1" "" "03298" "{PMID:Oda 1997:9207787}" "" "" "" "United States" "" "0" "" "" "" "FamF" "00263563" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263565" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat31" "00263567" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat6" "00263568" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A170" "00263569" "" "" "" "1" "" "03298" "" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00263570" "" "" "" "1" "" "03298" "" "has an affected cousin" "" "" "" "" "0" "" "" "" "" "00263571" "" "" "" "1" "" "03298" "" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00263572" "" "" "" "1" "" "03298" "" "has two affected children" "" "" "" "" "0" "" "" "" "" "00263573" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00263574" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263576" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263577" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263578" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263579" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263580" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263581" "" "" "" "1" "" "03298" "" "has two affected siblings" "" "" "United States" "" "0" "" "" "" "" "00263582" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263583" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263584" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat30" "00263585" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00263587" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat8" "00263588" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat50" "00263589" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263590" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat66" "00263591" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263592" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat41" "00263593" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263594" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263596" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00263597" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "has two affected children" "" "" "" "" "0" "" "" "" "" "00263598" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263599" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat47" "00263600" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00263601" "" "" "" "1" "" "03298" "" "has four affected cousins" "" "" "" "" "0" "" "" "" "" "00263602" "" "" "" "1" "" "03298" "" "has one affected cousin" "" "" "" "" "0" "" "" "" "" "00263603" "" "" "" "1" "" "03298" "" "has three affected siblings, one affected cousin" "" "" "" "" "0" "" "" "" "" "00263604" "" "" "" "1" "" "03298" "" "has three affected siblings, one affected cousin" "" "" "" "" "0" "" "" "" "" "00263605" "" "" "" "1" "" "03298" "" "has three affected siblings, one affected cousin" "" "" "" "" "0" "" "" "" "" "00263606" "" "" "" "1" "" "03298" "" "has three affected siblings, one affected cousin" "" "" "" "" "0" "" "" "" "" "00263608" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263610" "" "" "" "1" "" "03298" "{PMID:Giannakudis 2001:11313761}, {PMID:Ohashi 2017:28695677}" "" "" "" "" "" "0" "" "" "" "" "00263611" "" "" "" "1" "" "03298" "{PMID:Giannakudis 2001:11313761}, {PMID:Ohashi 2017:28695677}" "" "" "" "" "" "0" "" "" "" "" "00263612" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263613" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}, {PMID:Gilbert 2019:31343788}" "deletion of exon 11 confirmed by cDNA" "" "" "United States" "" "0" "" "" "" "Pat25" "00263614" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263615" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263616" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263617" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263618" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat44" "00263619" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263620" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263621" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "United States" "" "0" "" "" "" "" "00263622" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "United States" "" "0" "" "" "" "" "00263623" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "United States" "" "0" "" "" "" "" "00263624" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263625" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263626" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263627" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263628" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263629" "" "" "" "1" "" "03298" "" "" "" "" "" "" "0" "" "" "" "" "00263631" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat32" "00263632" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "" "" "0" "" "" "" "" "00263633" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "" "" "0" "" "" "" "" "00263634" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "" "" "0" "" "" "" "" "00263635" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263637" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263638" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A150" "00263639" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263640" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263642" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263643" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263644" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263645" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A162" "00263647" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263648" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A82v" "00263649" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A114v" "00263650" "" "" "" "1" "" "03298" "{PMID:Li 1997:9207788}" "" "" "" "United States" "" "0" "" "" "" "" "00263651" "" "" "" "1" "" "03298" "{PMID:Li 1997:9207788}" "" "" "" "United States" "" "0" "" "" "" "" "00263652" "" "" "" "1" "" "03298" "{PMID:Li 1997:9207788}" "" "" "" "United States" "" "0" "" "" "" "" "00263653" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A51n" "00263655" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat9" "00263656" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263657" "" "" "" "2" "" "03298" "{PMID:Giannakudis 2001:11313761}" "mother (mosaic) and 2 affected sons" "M" "" "" "" "0" "" "" "" "Fam2" "00263659" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263661" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263662" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263663" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A18r" "00263664" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A65v" "00263665" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263666" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263667" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A167" "00263668" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat62" "00263669" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263670" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A25v" "00263671" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A86v" "00263672" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A11r" "00263673" "" "" "" "1" "" "03298" "{PMID:Guo 2018:29783821}" "" "" "" "China" "" "0" "" "" "" "" "00263674" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263675" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263676" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263677" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263678" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263679" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263680" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263681" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263682" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat17" "00263684" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263685" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263687" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat21" "00263688" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat65" "00263689" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263690" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263691" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat8" "00263692" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00263694" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263695" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263696" "" "" "" "1" "" "03298" "{PMID:Li 1997:9207788}" "" "" "" "United States" "" "0" "" "" "" "" "00263697" "" "" "" "1" "" "03298" "{PMID:Li 1997:9207788}" "" "" "" "United States" "" "0" "" "" "" "" "00263698" "" "" "" "1" "" "03298" "" "has an affected sibling" "" "" "United States" "" "0" "" "" "" "" "00263699" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263700" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263701" "" "" "" "1" "" "03298" "" "has an affected child" "" "" "United States" "" "0" "" "" "" "" "00263702" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263703" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263704" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263705" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263706" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}, {PMID:Tada 2012:22487239}" "" "" "" "" "" "0" "" "" "" "" "00263707" "" "" "" "1" "" "03298" "" "has two affected children" "" "" "" "" "0" "" "" "" "" "00263708" "" "" "" "1" "" "03298" "" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00263709" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat20" "00263710" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263711" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263712" "" "" "" "1" "" "03298" "" "" "" "" "Italy" "" "0" "" "" "" "" "00263713" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "United States" "" "0" "" "" "" "" "00263714" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "United States" "" "0" "" "" "" "" "00263715" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat39" "00263716" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263717" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263718" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263719" "" "" "" "1" "" "03298" "" "has an affected child" "" "" "United States" "" "0" "" "" "" "" "00263720" "" "" "" "1" "" "03298" "" "has an affected sibling" "" "" "United States" "" "0" "" "" "" "" "00263721" "" "" "" "1" "" "03298" "" "has an affected child" "" "" "United States" "" "0" "" "" "" "" "00263722" "" "" "" "1" "" "03298" "" "has an affected sibling" "" "" "United States" "" "0" "" "" "" "" "00263723" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263724" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263725" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263726" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263727" "" "" "" "1" "" "03298" "" "has an affected child" "" "" "United States" "" "0" "" "" "" "" "00263728" "" "" "" "1" "" "03298" "" "has an affected sibling" "" "" "United States" "" "0" "" "" "" "" "00263729" "" "" "" "1" "" "03298" "" "has an affected sibling" "" "" "United States" "" "0" "" "" "" "" "00263730" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263731" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat11" "00263732" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263733" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263734" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263735" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263736" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat41" "00263737" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263738" "" "" "" "1" "" "03298" "" "" "" "" "" "" "0" "" "" "" "" "00263739" "" "" "" "1" "" "03298" "" "has an affected child" "" "" "" "" "0" "" "" "" "" "00263740" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263741" "" "" "" "1" "" "03298" "" "has an affected child" "" "" "United States" "" "0" "" "" "" "" "00263742" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00263743" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263744" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A74v" "00263745" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263746" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263747" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat12" "00263748" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat63" "00263749" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "unconfirmed by cDNA" "" "" "" "" "0" "" "" "" "" "00263750" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00263751" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A228" "00263752" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat57" "00263753" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263754" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263756" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263757" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "" "" "" "" "0" "" "" "" "" "00263759" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat14" "00263760" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A228" "00263761" "" "" "" "1" "" "03298" "{PMID:Oda 1997:9207787}" "" "" "" "United States" "" "0" "" "" "" "FamD" "00263762" "" "" "" "1" "" "03298" "{PMID:Oda 1997:9207787}" "" "" "" "United States" "" "0" "" "" "" "FamD" "00263763" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat35" "00263764" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "paternally inherited P/R866 (c.2611C>G)" "" "" "United States" "" "0" "" "" "" "Pat46" "00263765" "" "" "" "1" "" "03298" "{PMID:Oda 1997:9207787}" "family, 3 affected (proband, mother, sister)" "" "" "United States" "" "0" "" "" "" "FamC" "00263766" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263769" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263770" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "has an affected child" "" "" "" "" "0" "" "" "" "" "00263771" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263774" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263775" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263776" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263777" "" "" "" "1" "" "03298" "{PMID:Krantz 1998:9585603}" "" "" "" "United States" "" "0" "" "" "" "Pat52" "00263778" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263779" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263780" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263781" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263782" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263783" "" "" "" "1" "" "03298" "{PMID:Giannakudis 2001:11313761}" "father (mosiac and affected son" "M" "" "" "" "0" "" "" "" "Fam3" "00263784" "" "" "" "1" "" "03298" "" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00263785" "" "" "" "1" "" "03298" "" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00263786" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263788" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263789" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263790" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263791" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263792" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263793" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00263794" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "has an affected sibling" "" "" "" "" "0" "" "" "" "" "00263797" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat15" "00263798" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263802" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263803" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263804" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263805" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263806" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263807" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263808" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "" "" "" "" "0" "" "" "" "" "00263809" "" "" "" "1" "" "03298" "{PMID:Oda 1997:9207787}" "has an affected sibling" "" "" "United States" "" "0" "" "" "" "FamE" "00263810" "" "" "" "1" "" "03298" "{PMID:Oda 1997:9207787}" "has an affected sibling" "" "" "United States" "" "0" "" "" "" "FamE" "00263811" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263813" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "has two affected siblings" "" "" "" "" "0" "" "" "" "" "00263814" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "has two affected siblings" "" "" "" "" "0" "" "" "" "" "00263815" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263817" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263818" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00263820" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263821" "" "" "" "1" "" "03298" "" "" "" "" "" "" "0" "" "" "" "" "00263822" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263823" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A160" "00263824" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263825" "" "" "" "1" "" "03298" "" "" "" "" "" "" "0" "" "" "" "" "00263826" "" "" "" "1" "" "03298" "{PMID:Crosnier 1999:10220506}" "" "" "" "France" "" "0" "" "" "" "A34v" "00263827" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263828" "" "" "" "1" "" "03298" "{PMID:Colliton 2001:11180599}" "" "" "" "" "" "0" "" "" "" "" "00263830" "" "" "" "1" "" "03298" "" "" "" "" "" "" "0" "" "" "" "" "00263831" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263834" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "" "" "0" "" "" "" "" "00263835" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "" "" "0" "" "" "" "" "00263836" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "" "" "0" "" "" "" "" "00263837" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263838" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263840" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "" "" "" "" "0" "" "" "" "" "00263842" "" "" "" "1" "" "03298" "" "" "" "" "United States" "" "0" "" "" "" "" "00263843" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263844" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263845" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263846" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263847" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263848" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263849" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263850" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263851" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263852" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat16" "00263853" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263854" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263855" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263856" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat1" "00263857" "" "" "" "1" "" "03298" "{PMID:Laufer-Cahana 2002:12244554}, {PMID:Kamath 2009:19058200}" "" "" "" "" "" "0" "" "" "" "Pat2" "00263858" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263859" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat3" "00263860" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat4" "00263861" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat6" "00263862" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat7" "00263863" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat18" "00263864" "" "" "" "1" "" "03298" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat17" "00263865" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}, {PMID:Kamath 2009:19058200}" "" "" "" "" "" "0" "" "" "" "Pat8" "00263866" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat9" "00263867" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat10" "00263868" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat11" "00263869" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat12" "00263870" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat13" "00263871" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat14" "00263872" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat15" "00263873" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat16" "00263874" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat17" "00263875" "" "" "" "1" "" "03298" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat18" "00263876" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263878" "" "" "" "1" "" "03298" "{PMID:Rand 1995:7485156}" "" "" "" "" "" "0" "" "" "" "" "00263879" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263880" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263881" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263882" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263883" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "United States" "" "0" "" "" "" "" "00263884" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00263885" "" "" "" "1" "" "03298" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "United States" "" "0" "" "" "" "" "00263886" "" "" "" "1" "" "03298" "{PMID:Spinner 1994:8037203}, {PMID:Kamath 2009:19058200}" "" "" "" "" "" "0" "" "" "" "" "00263887" "" "" "" "1" "" "03298" "{PMID:Warthen 2006:16575836}" "" "" "" "" "" "0" "" "" "" "" "00292866" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292867" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292869" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292870" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304842" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305889" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "3" "00305950" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "50" "00306125" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "58" "00307334" "" "" "" "1" "" "00006" "{PMID:Oda 1997:9207787}" "" "" "" "United States" "" "0" "" "" "" "FamA" "00307335" "" "" "" "1" "" "00006" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Japan" "" "0" "" "" "" "Case11" "00307336" "" "" "" "1" "" "00006" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Japan" "" "0" "" "" "" "Case2" "00307337" "" "" "" "1" "" "00006" "{PMID:Kim 2017:28683534}" "" "" "" "Korea" "" "0" "" "" "" "patient" "00307338" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A223" "00307339" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A217" "00307340" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A110v" "00307341" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A290" "00307342" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A45v" "00307343" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A230" "00307344" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A119v" "00307345" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A101v" "00307346" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A359" "00307347" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A280" "00307348" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A218" "00307349" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A28r" "00307350" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A133r" "00307351" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A131r" "00307352" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A260" "00307353" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A15r" "00307354" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A284" "00307355" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A331" "00307356" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A340" "00307357" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A68r" "00307358" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A162" "00307359" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A322" "00307360" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A323" "00307361" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A98v" "00307362" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "fetus" "00307363" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "?" "00307364" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "?" "00307365" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "?" "00307366" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "?" "00307367" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "?" "00307368" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "?" "00307369" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "?" "00307370" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "?" "00307371" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "?" "00307372" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "?" "00307373" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "?" "00307374" "" "" "" "1" "" "00006" "{PMID:Yuan 2001:11359464}" "" "" "" "Japan" "" "0" "" "" "" "?" "00307375" "" "" "" "1" "" "00006" "{PMID:Yuan 1998:09700188}" "" "" "" "Japan" "" "0" "" "" "" "FamU3" "00307406" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "Pat1" "00307407" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "Pat2" "00307408" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "Pat3" "00307409" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "Pat4" "00307410" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "Pat5" "00307411" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "Pat6" "00307412" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "Pat7" "00307413" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "" "00307414" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "" "00307415" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "" "00307416" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "" "00307417" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "" "00307418" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "" "00307419" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "" "00307420" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "" "00307421" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "" "00307422" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "" "00307423" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "" "00307424" "" "" "" "1" "" "00006" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Mexico" "" "0" "" "" "" "" "00307425" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam1PatLP1" "00307426" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam2PatLP19" "00307427" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam3PatLP23" "00307428" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam4PatLP36" "00307429" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam5PatLP86" "00307430" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam6PatLP102" "00307452" "" "" "" "1" "" "04243" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam26PatLP89" "00307453" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam27PatLP101" "00307461" "" "" "" "1" "" "00006" "{PMID:Samejima 2007:17949281}" "family history" "F" "" "Japan" "" "0" "" "" "" "?" "00307462" "" "" "" "1" "" "00006" "{PMID:Samejima 2007:17949281}" "no family history" "M" "" "Japan" "" "0" "" "" "" "?" "00307463" "" "" "" "1" "" "00006" "{PMID:Samejima 2007:17949281}" "family history" "M" "" "Japan" "" "0" "" "" "" "?" "00307464" "" "" "" "1" "" "00006" "{PMID:Samejima 2007:17949281}" "no family history" "F" "" "Japan" "" "0" "" "" "" "?" "00307465" "" "" "" "1" "" "00006" "{PMID:Samejima 2007:17949281}" "no family history" "F" "" "Japan" "" "0" "" "" "" "?" "00307466" "" "" "" "1" "" "00006" "{PMID:Samejima 2007:17949281}" "no family history" "M" "" "Japan" "" "0" "" "" "" "?" "00307467" "" "" "" "1" "" "00006" "{PMID:Samejima 2007:17949281}" "no family history" "F" "" "Japan" "" "0" "" "" "" "?" "00307468" "" "" "" "1" "" "00006" "{PMID:Samejima 2007:17949281}" "no family history" "F" "" "Japan" "" "0" "" "" "" "?" "00307469" "" "" "" "1" "" "00006" "{PMID:Samejima 2007:17949281}" "no family history" "" "" "Japan" "" "0" "" "" "" "?" "00307470" "" "" "" "1" "" "00006" "{PMID:Samejima 2007:17949281}" "no family history" "F" "" "Japan" "" "0" "" "" "" "?" "00307471" "" "" "" "1" "" "00006" "{PMID:Samejima 2007:17949281}" "no family history" "M" "" "Japan" "" "0" "" "" "" "?" "00307472" "" "" "" "1" "" "00006" "{PMID:Samejima 2007:17949281}" "no family history" "M" "" "Japan" "" "0" "" "" "" "?" "00307473" "" "" "" "1" "" "00006" "{PMID:Samejima 2007:17949281}" "no family history" "F" "" "Japan" "" "0" "" "" "" "?" "00307474" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307475" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307476" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307477" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307478" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307479" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307480" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307481" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307482" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307483" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307484" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307485" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307486" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307487" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307488" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307489" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307490" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307491" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307492" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307493" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307494" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307495" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307496" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307497" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307498" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307499" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307500" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307501" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307502" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307503" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307504" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307505" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307506" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307507" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307508" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307509" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307510" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307511" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307512" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307513" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307514" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307515" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307516" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307517" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307518" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307519" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307520" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307521" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307522" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307523" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307524" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307525" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307526" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307527" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307528" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307529" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307530" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307531" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307532" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307533" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307534" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307535" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307536" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307537" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307538" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307539" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307540" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307541" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "F" "" "China" "" "0" "" "" "" "?" "00307542" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307543" "" "" "" "1" "" "00006" "{PMID:Li 2015:26076142}" "" "M" "" "China" "" "0" "" "" "" "?" "00307544" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat11" "00307545" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat12" "00307546" "" "" "" "1" "" "00006" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Poland" "" "0" "" "" "" "Pat13" "00307547" "" "" "" "1" "" "00006" "{PMID:Jung 2007:17414143}" "" "" "" "France" "" "0" "" "" "" "?" "00307548" "" "" "" "1" "" "00006" "{PMID:Jung 2007:17414143}" "" "" "" "France" "" "0" "" "" "" "?" "00307549" "" "" "" "1" "" "00006" "{PMID:Jung 2007:17414143}" "" "" "" "France" "" "0" "" "" "" "?" "00307550" "" "" "" "1" "" "00006" "{PMID:Jung 2007:17414143}" "" "" "" "France" "" "0" "" "" "" "?" "00307551" "" "" "" "1" "" "00006" "{PMID:Jung 2007:17414143}" "" "" "" "France" "" "0" "" "" "" "?" "00307552" "" "" "" "1" "" "00006" "{PMID:Jung 2007:17414143}" "" "F" "" "France" "" "0" "" "" "" "?" "00307553" "" "" "" "1" "" "00006" "{PMID:Jung 2007:17414143}" "" "F" "" "France" "" "0" "" "" "" "?" "00307554" "" "" "" "1" "" "00006" "{PMID:Jung 2007:17414143}" "" "F" "" "France" "" "0" "" "" "" "?" "00307555" "" "" "" "1" "" "00006" "{PMID:Jung 2007:17414143}" "" "M" "" "France" "" "0" "" "" "" "?" "00307556" "" "" "" "1" "" "00006" "{PMID:Jung 2007:17414143}" "" "M" "" "France" "" "0" "" "" "" "?" "00307558" "" "" "" "1" "" "00006" "{PMID:Heritage 2002:12442286}" "" "" "" "Australia" "" "0" "" "" "" "Pat28-2-1" "00307559" "" "" "" "1" "" "00006" "{PMID:Heritage 2002:12442286}" "" "" "" "Australia" "" "0" "" "" "" "Pat27-2-1" "00307560" "" "" "" "1" "" "00006" "{PMID:Heritage 2002:12442286}" "" "" "" "Australia" "" "0" "" "" "" "Pat33-2-1" "00307561" "" "" "" "2" "" "00006" "{PMID:Heritage 2002:12442286}" "2 affected sibs" "" "" "Australia" "" "0" "" "" "" "Pat25-2-1/25-2-2" "00307562" "" "" "" "1" "" "00006" "{PMID:Heritage 2000:11058898}" "" "" "" "Australia" "" "0" "" "" "" "Pat6-3-1" "00307563" "" "" "" "1" "" "00006" "{PMID:Heritage 2000:11058898}" "" "" "" "Australia" "" "0" "" "" "" "Pat7-3-1" "00307564" "" "" "" "1" "" "00006" "{PMID:Heritage 2000:11058898}" "" "" "" "Australia" "" "0" "" "" "" "Pat19-2-1" "00307565" "" "" "" "3" "" "00006" "{PMID:Heritage 2000:11058898}" "mother and 2 affected children" "" "" "Australia" "" "0" "" "" "" "Pat1-2-2/1-3-2/9" "00307566" "" "" "" "1" "" "00006" "{PMID:Heritage 2000:11058898}" "" "" "" "Australia" "" "0" "" "" "" "Pat13-2-1" "00307567" "" "" "" "1" "" "00006" "{PMID:Heritage 2000:11058898}" "" "" "" "Australia" "" "0" "" "" "" "Pat16-2-1" "00307568" "" "" "" "1" "" "00006" "{PMID:Izumi 2016:26463753}" "mother and affected twins" "" "" "Japan" "" "0" "" "" "" "family" "00307569" "" "" "" "1" "" "00006" "{PMID:Guida 2011:22040217}" "" "" "" "Italy" "" "0" "" "" "" "TF4" "00307570" "" "" "" "1" "" "00006" "{PMID:Guida 2011:22040217}" "" "" "" "Italy" "" "0" "" "" "" "TF47" "00307571" "" "" "" "1" "" "00006" "{PMID:Guida 2011:22040217}" "" "" "" "Italy" "" "0" "" "" "" "TF35" "00307572" "" "" "" "1" "" "00006" "{PMID:Guida 2011:22040217}" "" "" "" "Italy" "" "0" "" "" "" "HD026" "00307576" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307577" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307578" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307579" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307580" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307581" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307582" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307583" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307584" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307585" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307586" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307587" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307588" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307589" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307590" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307592" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307593" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307594" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307595" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307596" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307597" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307598" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307599" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307600" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307601" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307602" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307603" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307604" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307605" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307606" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307607" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307608" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307609" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307610" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307611" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307612" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307613" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307614" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307615" "" "" "" "1" "" "00006" "{PMID:Guegan 2012:21752016}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00307617" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "F" "" "Japan" "" "0" "" "" "" "NCU01/Pat3" "00307618" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "NCU02/Pat4" "00307619" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "F" "" "Japan" "" "0" "" "" "" "NCU03/Pat5" "00307620" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "NCU04/Pat8" "00307621" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "F" "" "Japan" "" "0" "" "" "" "NCU05/Pat10" "00307622" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "F" "" "Japan" "" "0" "" "" "" "NCU06/Pat14" "00307623" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "NCU07/Pat16" "00307624" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "F" "" "Japan" "" "0" "" "" "" "NCU08/Pat19" "00307625" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "F" "" "Japan" "" "0" "" "" "" "NCU09/Pat20" "00307626" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}" "" "F" "" "Japan" "" "0" "" "" "" "NCU10" "00307627" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "NCU23/Pat26" "00307628" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "Pat1" "00307629" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "F" "" "Japan" "" "0" "" "" "" "Pat11" "00307630" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "Pat12" "00307631" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "Pat13" "00307632" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "Pat15" "00307633" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "Pat17" "00307634" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "F" "" "Japan" "" "0" "" "" "" "Pat18" "00307635" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "Pat2" "00307636" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "F" "" "Japan" "" "0" "" "" "" "Pat21" "00307637" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "Pat22" "00307638" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "F" "" "Japan" "" "0" "" "" "" "Pat23" "00307639" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "Pat25" "00307640" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "Pat27" "00307641" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "Pat28" "00307642" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "F" "" "Japan" "" "0" "" "" "" "Pat6" "00307643" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "Pat7" "00307644" "" "" "" "1" "" "00006" "{PMID:Ohashi 2017:28695677}" "" "M" "" "Japan" "" "0" "" "" "" "Pat9" "00307837" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A293" "00307838" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "2 affected brothers" "M" "" "France" "" "0" "" "" "" "A101v/A102v" "00307839" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A325" "00307840" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A290" "00307841" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A284" "00307842" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A331" "00307843" "" "" "" "1" "" "00006" "{PMID:Crosnier 2000:11139247}" "" "" "" "France" "" "0" "" "" "" "A268" "00307845" "" "" "" "1" "" "00006" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat5" "00307846" "" "" "" "1" "" "00006" "{PMID:Kamath 2009:19058200}" "" "" "" "United States" "" "0" "" "" "" "Pat21" "00307848" "" "" "" "1" "" "00006" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat4" "00307849" "" "" "" "1" "" "00006" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat7" "00307850" "" "" "" "1" "" "00006" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat10" "00307851" "" "" "" "1" "" "00006" "{PMID:Lin 2012:22488849}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat13" "00308765" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00310041" "" "" "" "1" "" "02373" "" "" "F" "" "Poland" "" "0" "" "" "" "R_3159" "00312529" "" "" "" "1" "" "02551" "" "" "M" "" "" "" "0" "" "" "" "" "00328405" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690923" "00328406" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "680420" "00330871" "" "" "" "1" "" "00006" "{PMID:Boyer 2005:15772854}" "" "" "" "France" "" "0" "" "" "" "A140" "00330874" "" "" "" "1" "" "00006" "contact me for details" "2-generation family, 1 affected and seemingly unaffected heterozygous carrier mother" "" "" "Israel" "" "0" "" "" "" "private email" "00332046" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat184" "00363342" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM656" "00363386" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM648" "00363721" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG2581" "00375354" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6043" "00375423" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#016" "00379415" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379416" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00380413" "" "" "" "1" "" "01164" "" "" "M" "likely" "" "" "0" "" "" "" "185044" "00381727" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00386710" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2839_004424" "00391172" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "134" "00394356" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "AgS1" "00412797" "" "" "" "1" "cc_by-sa_4.0;1" "04348" "" "" "M" "no" "China" "" "0" "" "" "" "" "00435463" "" "" "" "1" "" "00006" "{PMID:Sajan 2019:30478137}" "-generation family, 1 affected, unaffected heterozygous parents" "" "" "United States" "" "0" "" "" "" "Pat1" "00444877" "" "" "" "1" "" "00006" "{PMID:Fan 2020:32883240}" "2-generation family, 1 affected" "" "" "China" "" "0" "" "" "" "Pat3" "00446446" "" "" "" "1" "" "00006" "{PMID:Liu 2023:37337769}" "" "M" "" "China" "" "0" "" "" "" "Fam28Pat76" "00446481" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "family" "M" "" "China" "" "0" "" "" "" "Fam81Pat222" "00446482" "" "" "00446481" "1" "" "00006" "{PMID:Liu 2023:37337769}" "relative" "F" "" "China" "" "0" "" "" "" "Fam81Pat224" "00448479" "" "" "" "2" "" "04614" "" "" "F" "no" "Spain" "" "" "" "" "" "" "00453761" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV962" "00453762" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV958" "00453763" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV817" "00453764" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV543" "00457466" "" "" "" "1" "" "04773" "" "" "F" "no" "Saudi Arabia" "11y" "" "" "" "Saudi Arabian" "032CHD03" "00460915" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1077 "{{individualid}}" "{{diseaseid}}" "00000030" "00000" "00001820" "00112" "00080970" "00750" "00228270" "00198" "00239004" "00750" "00239005" "00750" "00239006" "00750" "00239007" "00750" "00239008" "00750" "00239009" "00750" "00239010" "00750" "00239011" "00750" "00239012" "00750" "00239013" "00750" "00239014" "00750" "00239016" "00750" "00239050" "00750" "00239052" "00750" "00239055" "00750" "00239056" "00750" "00239058" "00750" "00239061" "00750" "00239062" "00750" "00239065" "00750" "00239071" "00750" "00239072" "00750" "00239074" "00750" "00239076" "00750" "00239077" "00750" "00239079" "00750" "00239083" "00750" "00239089" "00750" "00239098" "00750" "00239100" "00750" 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"00263643" "00750" "00263644" "00750" "00263645" "00750" "00263647" "00750" "00263648" "00750" "00263649" "00750" "00263650" "00750" "00263651" "00750" "00263652" "00750" "00263653" "00750" "00263655" "00750" "00263656" "00750" "00263657" "00750" "00263659" "00750" "00263661" "00750" "00263662" "00750" "00263663" "00750" "00263664" "00750" "00263665" "00750" "00263666" "00750" "00263667" "00750" "00263668" "00750" "00263669" "00750" "00263670" "00750" "00263671" "00750" "00263672" "00750" "00263673" "00750" "00263674" "00750" "00263675" "00750" "00263676" "00750" "00263677" "00750" "00263678" "00750" "00263679" "00750" "00263680" "00750" "00263681" "00750" "00263682" "00750" "00263684" "00750" "00263685" "00750" "00263687" "00750" "00263688" "00750" "00263689" "00750" "00263690" "00750" "00263691" "00750" "00263692" "00750" "00263694" "00750" "00263695" "00750" "00263696" "00750" "00263697" "00750" "00263698" "00750" "00263699" "00750" "00263700" "00750" "00263701" "00750" "00263702" "00750" "00263703" "00750" "00263704" "00750" "00263705" "00750" "00263706" "00750" "00263707" "00750" "00263708" "00750" "00263709" "00750" "00263710" "00750" "00263711" "00750" "00263712" "00750" "00263713" "00750" "00263714" "00750" "00263715" "00750" "00263716" "00750" "00263717" "00750" "00263718" "00750" "00263719" "00750" "00263720" "00750" "00263721" "00750" "00263722" "00750" "00263723" "00750" "00263724" "00750" "00263725" "00750" "00263726" "00750" "00263727" "00750" "00263728" "00750" "00263729" "00750" "00263730" "00750" "00263731" "00750" "00263732" "00750" "00263733" "00750" "00263734" "00750" "00263735" "00750" "00263736" "00750" "00263737" "00750" "00263738" "00750" "00263739" "00750" "00263740" "00750" "00263741" "00750" "00263742" "00750" "00263743" "00750" "00263744" "00750" "00263745" "00750" "00263746" "00750" "00263747" "00750" "00263748" "00750" "00263749" "00750" "00263750" "00750" "00263751" "00750" "00263752" "00750" "00263753" "00750" "00263754" "00750" "00263756" "00750" "00263757" "00750" "00263759" "00750" "00263760" "00750" "00263761" "00750" "00263762" "00750" "00263763" "00750" "00263764" "00750" "00263765" "00750" "00263766" "00750" "00263769" "00750" "00263770" "00750" "00263771" "00750" "00263774" "00750" "00263775" "00750" "00263776" "00750" "00263777" "00750" "00263778" "00750" "00263779" "00750" "00263780" "00750" "00263781" "00750" "00263782" "00750" "00263783" "00750" "00263784" "00750" "00263785" "00750" "00263786" "00750" "00263788" "00750" "00263789" "00750" "00263790" "00750" "00263791" "00750" "00263792" "00750" "00263793" "00750" "00263794" "00750" "00263797" "00750" "00263798" "00750" "00263802" "00750" "00263803" "00750" "00263804" "00750" "00263805" "00750" "00263806" "00750" "00263807" "00750" "00263808" "00750" "00263809" "00750" "00263810" "00750" "00263811" "00750" "00263813" "00750" "00263814" "00750" "00263815" "00750" "00263817" "00750" "00263818" "00750" "00263820" "00750" "00263821" "00750" "00263822" "00750" "00263823" "00750" "00263824" "00750" "00263825" "00750" "00263826" "00750" "00263827" "00750" "00263828" "00750" "00263830" "00750" "00263831" "00750" "00263834" "00750" "00263835" "00750" "00263836" "00750" "00263837" "00750" "00263838" "00750" "00263840" "00750" "00263842" "00750" "00263843" "00750" "00263844" "00750" "00263845" "00750" "00263846" "00750" "00263847" "00750" "00263848" "00750" "00263849" "00750" "00263850" "00750" "00263851" "00750" "00263852" "00750" "00263853" "00750" "00263854" "00750" "00263855" "00750" "00263856" "00750" "00263857" "00750" "00263858" "00750" "00263859" "00750" "00263860" "00750" "00263861" "00750" "00263862" "00750" "00263863" "00750" "00263864" "00750" "00263865" "00750" "00263866" "00750" "00263867" "00750" "00263868" "00750" "00263869" "00750" "00263870" "00750" "00263871" "00750" "00263872" "00750" "00263873" "00750" "00263874" "00750" "00263875" "00750" "00263876" "00750" "00263878" "00750" "00263879" "00750" "00263880" "00750" "00263881" "00750" "00263882" "00750" "00263883" "00750" "00263884" "00750" "00263885" "00750" "00263886" "00750" "00263887" "00750" "00292866" "00198" "00292867" "00198" "00292869" "00198" "00292870" "00198" "00304842" "00198" "00305889" "00750" "00305950" "00750" "00306125" "00750" "00307334" "00750" "00307335" "00198" "00307336" "00198" "00307337" "00750" "00307338" "00750" "00307339" "00750" "00307340" "00750" "00307341" "00750" "00307342" "00750" "00307343" "00750" "00307344" "00750" "00307345" "00750" "00307346" "00750" "00307347" "00750" "00307348" "00750" "00307349" "00750" "00307350" "00750" "00307351" "00750" "00307352" "00750" "00307353" "00750" "00307354" "00750" "00307355" "00750" "00307356" "00750" "00307357" "00750" "00307358" "00750" "00307359" "00750" "00307360" "00750" "00307361" "00750" "00307362" "00750" "00307363" "00750" "00307364" "00750" "00307365" "00750" "00307366" "00750" "00307367" "00750" "00307368" "00750" "00307369" "00750" "00307370" "00750" "00307371" "00750" "00307372" "00750" "00307373" "00750" "00307374" "00750" "00307375" "00750" "00307406" "00750" "00307407" "00750" "00307408" "00750" "00307409" "00750" "00307410" "00750" "00307411" "00750" "00307412" "00750" "00307413" "00000" "00307414" "00000" "00307415" "00000" "00307416" "00000" "00307417" "00000" "00307418" "00000" "00307419" "00000" "00307420" "00000" "00307421" "00000" "00307422" "00000" "00307423" "00000" "00307424" "00000" "00307425" "00750" "00307426" "00750" "00307427" "00750" "00307428" "00750" "00307429" "00750" "00307430" "00750" "00307452" "00750" "00307453" "00750" "00307461" "00750" "00307462" "00750" "00307463" "00750" "00307464" "00750" "00307465" "00750" "00307466" "00750" "00307467" "00750" "00307468" "00750" "00307469" "00750" "00307470" "00750" "00307471" "00750" "00307472" "00750" "00307473" "00750" "00307474" "00750" "00307475" "00750" "00307476" "00750" "00307477" "00750" "00307478" "00750" "00307479" "00750" "00307480" "00750" "00307481" "00750" "00307482" "00750" "00307483" "00750" "00307484" "00750" "00307485" "00750" "00307486" "00750" "00307487" "00750" "00307488" "00750" "00307489" "00750" "00307490" "00750" "00307491" "00750" "00307492" "00750" "00307493" "00750" "00307494" "00750" "00307495" "00750" "00307496" "00750" "00307497" "00750" "00307498" "00750" "00307499" "00750" "00307500" "00750" "00307501" "00750" "00307502" "00750" "00307503" "00750" "00307504" "00750" "00307505" "00750" "00307506" "00750" "00307507" "00750" "00307508" "00750" "00307509" "00750" "00307510" "00750" "00307511" "00750" "00307512" "00750" "00307513" "00750" "00307514" "00750" "00307515" "00750" "00307516" "00750" "00307517" "00750" "00307518" "00750" "00307519" "00750" "00307520" "00750" "00307521" "00750" "00307522" "00750" "00307523" "00750" "00307524" "00750" "00307525" "00750" "00307526" "00750" "00307527" "00750" "00307528" "00750" "00307529" "00750" "00307530" "00750" "00307531" "00750" "00307532" "00750" "00307533" "00750" "00307534" "00750" "00307535" "00750" "00307536" "00750" "00307537" "00750" "00307538" "00750" "00307539" "00750" "00307540" "00750" "00307541" "00750" "00307542" "00750" "00307543" "00750" "00307544" "00750" "00307545" "00750" "00307546" "00750" "00307547" "00750" "00307548" "00750" "00307549" "00750" "00307550" "00750" "00307551" "00750" "00307552" "00750" "00307553" "00750" "00307554" "00750" "00307555" "00750" "00307556" "00750" "00307558" "00750" "00307559" "00750" "00307560" "00750" "00307561" "00750" "00307562" "00750" "00307563" "00750" "00307564" "00750" "00307565" "00750" "00307566" "00750" "00307567" "00750" "00307568" "00750" "00307569" "00389" "00307570" "00389" "00307571" "00389" "00307572" "00389" "00307576" "00389" "00307577" "00389" "00307578" "00389" "00307579" "00389" "00307580" "00750" "00307581" "00750" "00307582" "00750" "00307583" "00750" "00307584" "00750" "00307585" "00750" "00307586" "00750" "00307587" "00750" "00307588" "00750" "00307589" "00750" "00307590" "00750" "00307592" "00750" "00307593" "00750" "00307594" "00750" "00307595" "00750" "00307596" "00750" "00307597" "00750" "00307598" "00750" "00307599" "00750" "00307600" "00750" "00307601" "00750" "00307602" "00750" "00307603" "00750" "00307604" "00750" "00307605" "00750" "00307606" "00750" "00307607" "00750" "00307608" "00750" "00307609" "00750" "00307610" "00750" "00307611" "00750" "00307612" "00750" "00307613" "00750" "00307614" "00750" "00307615" "00750" "00307617" "00750" "00307618" "00750" "00307619" "00750" "00307620" "00750" "00307621" "00750" "00307622" "00750" "00307623" "00750" "00307624" "00750" "00307625" "00750" "00307626" "00750" "00307627" "00750" "00307628" "00750" "00307629" "00750" "00307630" "00750" "00307631" "00750" "00307632" "00750" "00307633" "00750" "00307634" "00750" "00307635" "00750" "00307636" "00750" "00307637" "00750" "00307638" "00750" "00307639" "00750" "00307640" "00750" "00307641" "00750" "00307642" "00750" "00307643" "00750" "00307644" "00750" "00307837" "00750" "00307838" "00750" "00307839" "00750" "00307840" "00750" "00307841" "00750" "00307842" "00750" "00307843" "00750" "00307845" "00750" "00307846" "00750" "00307848" "00750" "00307849" "00750" "00307850" "00750" "00307851" "00750" "00308765" "00000" "00310041" "00750" "00312529" "00198" "00328405" "04214" "00328406" "04214" "00330871" "00750" "00330874" "00750" "00332046" "04214" "00363342" "04214" "00363386" "04214" "00363721" "04214" "00375354" "04214" "00375423" "04214" "00379415" "04214" "00379416" "04214" "00380413" "00750" "00381727" "04214" "00386710" "04214" "00391172" "04214" "00394356" "04214" "00412797" "00750" "00435463" "06495" "00444877" "00296" "00446446" "00296" "00446481" "00296" "00446482" "00000" "00448479" "00750" "00453761" "00152" "00453762" "00152" "00453763" "00152" "00453764" "00152" "00457466" "00152" "00460915" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00139, 00152, 00198, 00296, 00389, 00750, 01027, 03360, 04214, 04240, 06495 ## Count = 429 "{{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}}" "0000060539" "00750" "00080970" "01758" "Isolated (sporadic)" "" "Alagille syndrome (OMIM:118450)" "" "" "" "" "" "" "" "" "" "" "" "0000172200" "00198" "00228270" "01807" "Unknown" "" "Neonatal cholestatic liver disease (HP:0006566); Hepatomegaly (HP:0002240); Hepatic failure (HP:0001399)" "" "" "" "" "" "" "" "" "" "" "" "0000179456" "00750" "00239242" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179458" "00750" "00239244" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179463" "00750" "00239249" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179472" "00750" "00239258" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179478" "00750" "00239264" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179480" "00750" "00239266" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179482" "00750" "00239268" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179484" "00750" "00239270" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179485" "00750" "00239271" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179487" "00750" "00239273" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179488" "00750" "00239274" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179489" "00750" "00239275" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179490" "00750" "00239276" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179491" "00750" "00239277" "00006" "Isolated (sporadic)" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179492" "00750" "00239278" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179493" "00750" "00239279" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179494" "00750" "00239280" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179495" "00750" "00239281" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179496" "00750" "00239282" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179497" "00750" "00239283" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179498" "00750" "00239284" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179499" "00750" "00239285" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179500" "00750" "00239286" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179501" "00750" "00239287" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179502" "00750" "00239288" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179503" "00750" "00239289" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179504" "00750" "00239290" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179505" "00750" "00239291" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179506" "00750" "00239292" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179507" "00750" "00239293" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179508" "00750" "00239294" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179509" "00750" "00239295" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179510" "00750" "00239296" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179511" "00750" "00239297" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179512" "00750" "00239298" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179513" "00750" "00239299" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179514" "00750" "00239300" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179515" "00750" "00239301" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179516" "00750" "00239302" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179517" "00750" "00239303" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179518" "00750" "00239304" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179519" "00750" "00239305" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179520" "00750" "00239306" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179521" "00750" "00239307" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179522" "00750" "00239308" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179523" "00750" "00239309" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179524" "00750" "00239310" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179525" "00750" "00239311" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179526" "00750" "00239312" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179527" "00750" "00239313" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179528" "00750" "00239314" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179529" "00750" "00239315" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179530" "00750" "00239316" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179531" "00750" "00239317" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179532" "00750" "00239318" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179533" "00750" "00239319" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179534" "00750" "00239320" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179535" "00750" "00239321" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179536" "00750" "00239322" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179537" "00750" "00239323" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179538" "00750" "00239324" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179539" "00750" "00239325" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179540" "00750" "00239326" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179541" "00750" "00239327" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179542" "00750" "00239328" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179543" "00750" "00239329" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179544" "00750" "00239330" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179545" "00750" "00239331" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179546" "00750" "00239332" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179547" "00750" "00239333" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179548" "00750" "00239334" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179549" "00750" "00239335" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179550" "00750" "00239336" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179551" "00750" "00239337" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179552" "00750" "00239338" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179553" "00750" "00239339" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179554" "00750" "00239340" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179555" "00750" "00239341" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179556" "00750" "00239342" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179557" "00750" "00239343" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179558" "00750" "00239344" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179559" "00750" "00239345" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179560" "00750" "00239346" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179561" "00750" "00239347" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179562" "00750" "00239348" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179563" "00750" "00239349" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179564" "00750" "00239350" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179565" "00750" "00239351" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179566" "00750" "00239352" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179567" "00750" "00239353" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179568" "00750" "00239354" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179569" "00750" "00239355" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179570" "00750" "00239356" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179571" "00750" "00239357" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179572" "00750" "00239358" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179573" "00750" "00239359" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179574" "00750" "00239360" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179575" "00750" "00239361" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179576" "00750" "00239362" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179577" "00750" "00239363" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179578" "00750" "00239364" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179579" "00750" "00239365" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179580" "00750" "00239366" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179581" "00750" "00239367" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179582" "00750" "00239368" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179583" "00750" "00239369" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179584" "00750" "00239370" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179585" "00750" "00239371" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179586" "00750" "00239372" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179587" "00750" "00239373" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179588" "00750" "00239374" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179589" "00750" "00239375" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179590" "00750" "00239376" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179591" "00750" "00239377" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179592" "00750" "00239378" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179593" "00750" "00239379" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179594" "00750" "00239380" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179595" "00750" "00239381" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179596" "00750" "00239382" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179597" "00750" "00239383" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179598" "00750" "00239384" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179599" "00750" "00239385" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179600" "00750" "00239386" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179601" "00750" "00239387" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179602" "00750" "00239388" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179603" "00750" "00239389" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179604" "00750" "00239390" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179605" "00750" "00239391" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179606" "00750" "00239392" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179607" "00750" "00239393" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179608" "00750" "00239394" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179609" "00750" "00239395" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179610" "00750" "00239396" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179611" "00750" "00239397" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179612" "00750" "00239398" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179613" "00750" "00239399" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179614" "00750" "00239400" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179615" "00750" "00239401" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179616" "00750" "00239402" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179617" "00750" "00239403" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179618" "00750" "00239404" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179619" "00750" "00239405" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179620" "00750" "00239406" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179621" "00750" "00239407" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179622" "00750" "00239408" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179623" "00750" "00239409" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179624" "00750" "00239410" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179625" "00750" "00239411" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179626" "00750" "00239412" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179627" "00750" "00239413" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179628" "00750" "00239414" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179629" "00750" "00239415" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179630" "00750" "00239416" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179631" "00750" "00239417" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179632" "00750" "00239418" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179633" "00750" "00239419" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179634" "00750" "00239420" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179635" "00750" "00239421" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179636" "00750" "00239422" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179637" "00750" "00239423" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179638" "00750" "00239424" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179639" "00750" "00239425" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179640" "00750" "00239426" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179641" "00750" "00239427" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179642" "00750" "00239428" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179643" "00750" "00239429" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179644" "00750" "00239430" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179645" "00750" "00239431" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179646" "00750" "00239432" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179647" "00750" "00239433" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179648" "00750" "00239434" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179649" "00750" "00239435" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179650" "00750" "00239436" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179651" "00750" "00239437" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179652" "00750" "00239438" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179653" "00750" "00239439" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179654" "00750" "00239440" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179655" "00750" "00239441" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179656" "00750" "00239442" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179657" "00750" "00239443" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179658" "00750" "00239444" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179659" "00750" "00239445" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179660" "00750" "00239446" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179661" "00750" "00239447" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179662" "00750" "00239448" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179663" "00750" "00239449" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179664" "00750" "00239450" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179665" "00750" "00239451" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179666" "00750" "00239452" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179667" "00750" "00239453" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179668" "00750" "00239454" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179669" "00750" "00239455" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179670" "00750" "00239456" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179671" "00750" "00239457" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179672" "00750" "00239458" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179673" "00750" "00239459" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179674" "00750" "00239460" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179675" "00750" "00239461" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179676" "00750" "00239462" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179677" "00750" "00239463" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179678" "00750" "00239464" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179679" "00750" "00239465" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179680" "00750" "00239466" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179681" "00750" "00239467" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179682" "00750" "00239468" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179683" "00750" "00239469" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179684" "00750" "00239470" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179685" "00750" "00239471" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179686" "00750" "00239472" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179687" "00750" "00239473" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179688" "00750" "00239474" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179689" "00750" "00239475" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179690" "00750" "00239476" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179691" "00750" "00239477" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179692" "00750" "00239478" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179693" "00750" "00239479" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179694" "00750" "00239480" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179695" "00750" "00239481" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179696" "00750" "00239482" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179697" "00750" "00239483" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179698" "00750" "00239484" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179699" "00750" "00239485" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179700" "00750" "00239486" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179701" "00750" "00239487" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179702" "00750" "00239488" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179703" "00750" "00239489" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179704" "00750" "00239490" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179705" "00750" "00239491" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179706" "00750" "00239492" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179707" "00750" "00239493" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179708" "00750" "00239494" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179709" "00750" "00239495" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179710" "00750" "00239496" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179711" "00750" "00239497" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179712" "00750" "00239498" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179713" "00750" "00239499" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179714" "00750" "00239500" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179715" "00750" "00239501" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179716" "00750" "00239502" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179717" "00750" "00239503" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179718" "00750" "00239504" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179719" "00750" "00239505" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179720" "00750" "00239506" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179721" "00750" "00239507" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179722" "00750" "00239508" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179723" "00750" "00239509" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179724" "00750" "00239510" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179725" "00750" "00239511" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179730" "00750" "00239516" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179731" "00750" "00239517" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179732" "00750" "00239518" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179733" "00750" "00239519" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179734" "00750" "00239520" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179735" "00750" "00239521" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179736" "00750" "00239522" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179737" "00750" "00239523" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179738" "00750" "00239524" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179739" "00750" "00239525" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179740" "00750" "00239526" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179741" "00750" "00239527" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179742" "00750" "00239528" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179743" "00750" "00239529" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179744" "00750" "00239530" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179745" "00750" "00239531" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179747" "00750" "00239533" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179748" "00750" "00239534" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179749" "00750" "00239535" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179750" "00750" "00239536" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179751" "00750" "00239537" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179752" "00750" "00239538" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179753" "00750" "00239539" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179754" "00750" "00239540" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179755" "00750" "00239541" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179756" "00750" "00239542" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179757" "00750" "00239543" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179758" "00750" "00239544" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179759" "00750" "00239545" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179760" "00750" "00239546" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179761" "00750" "00239547" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179762" "00750" "00239548" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179763" "00750" "00239549" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179764" "00750" "00239550" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "biliary atresia" "" "0000179765" "00750" "00239551" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179766" "00750" "00239552" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179772" "00750" "00239558" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179773" "00750" "00239559" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179774" "00750" "00239560" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179775" "00750" "00239561" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179776" "00750" "00239562" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179777" "00750" "00239563" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179778" "00750" "00239564" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179779" "00750" "00239565" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179780" "00750" "00239566" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179781" "00750" "00239567" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179782" "00750" "00239568" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179783" "00750" "00239569" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179784" "00750" "00239570" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179785" "00750" "00239571" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179786" "00750" "00239572" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179787" "00750" "00239573" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179788" "00750" "00239574" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179789" "00750" "00239575" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179790" "00750" "00239576" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179791" "00750" "00239577" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179792" "00750" "00239578" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179793" "00750" "00239579" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179794" "00750" "00239580" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179795" "00750" "00239581" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179796" "00750" "00239582" "00006" "Unknown" "" "Alagille facies, premature birth, microcephaly, dystrophy, severe mental retardation, extrahepatic biliary atresia (2y-liver transplantation), juxtaductal coarctation, peripheral pulmonary stenosis, truncus bicaroticus" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179797" "00198" "00239583" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "extrahepatic biliary atresia" "" "0000179798" "00198" "00239584" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "extrahepatic biliary atresia" "" "0000179799" "00198" "00239585" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "extrahepatic biliary atresia" "" "0000179800" "00198" "00239586" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "extrahepatic biliary atresia" "" "0000179801" "00198" "00239587" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "extrahepatic biliary atresia" "" "0000179802" "00198" "00239588" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "extrahepatic biliary atresia" "" "0000179803" "00198" "00239589" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "extrahepatic biliary atresia" "" "0000179804" "00198" "00239590" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "extrahepatic biliary atresia" "" "0000179805" "00198" "00239591" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "extrahepatic biliary atresia" "" "0000179806" "00198" "00239592" "00006" "Unknown" "" "bone mineral density, osteoporotic fracture" "" "" "" "" "" "" "" "" "" "bone mineral density" "" "0000179807" "00198" "00239593" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "intrahepatic cholestasis" "" "0000179808" "00198" "00239594" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "intrahepatic cholestasis" "" "0000179809" "01027" "00239595" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "deafness, heart defects, posterior embryotoxon" "" "0000179810" "00198" "00239596" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "pulmonic stenosis" "" "0000179811" "00389" "00239597" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000179812" "00389" "00239598" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000179813" "00389" "00239599" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000179814" "00389" "00239600" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000179815" "00389" "00239601" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000179816" "00389" "00239602" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000179817" "00389" "00239603" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000179818" "00389" "00239604" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000179819" "00389" "00239605" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000179820" "00750" "00239606" "00006" "Isolated (sporadic)" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179821" "00750" "00239607" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179822" "00750" "00239608" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179823" "00750" "00239609" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179824" "00750" "00239610" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179825" "00750" "00239611" "00006" "Isolated (sporadic)" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179826" "00750" "00239612" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179827" "00750" "00239613" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179828" "00750" "00239614" "00006" "Isolated (sporadic)" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179829" "00750" "00239616" "00006" "Familial, autosomal dominant" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179830" "00750" "00239617" "00006" "Isolated (sporadic)" "" "see paper; 
" "" "" "" "" "" "" "" "" "ALGS-1" "Alagille syndrome" "" "0000179832" "00389" "00239618" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000179833" "00389" "00239619" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000179834" "00389" "00239620" "00006" "Unknown" "" "Alagille facies, mild mental retardation, RAA, singular origin of left subclavian artery, truncus bicaroticus" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000179835" "00389" "00239621" "00006" "Unknown" "" "Alagille facies, severe mental retardation, hypernasality, dysplastic ears, flat nasal bridge, wide-set nipples, extrahepatic biliary atresia, peripheral pulmonary stenosis" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000188390" "00750" "00249422" "02950" "Unknown" "" "Alagille syndrome, marked cholestasis and severely hypoplastic pulmonary branches, severe jaundice" "" "" "" "" "" "" "" "" "" "" "" "0000200545" "04240" "00262062" "03382" "Familial" "21y" "" "" "21y" "" "" "" "" "" "" "Familial Exudative Vitreoretinopathy" "Norrie-like retinopathy" "" "0000200566" "04240" "00262083" "03382" "Familial" "?" "HP:0000541 Retinal detachment\r\nHP:0000518 Cataract" "00y?" "?" "" "" "" "" "" "" "Familial Exudative Vitreoretinopathy" "Norrie-like retinopathy" "" "0000200568" "04240" "00262085" "03382" "Familial" "?" "" "?" "?" "" "" "" "" "" "" "Familial Exudative Vitreoretinopathy" "Norrie-like retinopathy" "" "0000231735" "00750" "00305889" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231736" "00750" "00305889" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231799" "00750" "00305950" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231966" "00750" "00306125" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231967" "00750" "00306125" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233128" "00750" "00307334" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233129" "00198" "00307335" "00006" "Isolated (sporadic)" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "extrahepatic biliary atresia" "" "0000233130" "00198" "00307336" "00006" "Unknown" "" "see paper; 
" "" "" "" "" "" "" "" "" "" "extrahepatic biliary atresia" "" "0000233131" "00750" "00307337" "00006" "Familial, autosomal dominant" "" "see papr; ..." "" "" "" "" "" "" "" "" "" "" "" "0000233132" "00750" "00239012" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233133" "00750" "00239013" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233134" "00750" "00307375" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233139" "00750" "00307425" "00006" "Familial, autosomal dominant" "1y" "characteristic phenotype (face, heart, cholestasis, vertebral anomalies, failure to thrive)" "" "" "" "" "" "" "" "" "" "Alagille syndrome" "" "0000233140" "00750" "00307426" "00006" "Familial, autosomal dominant" "8y" "characteristic phenotype (face, heart, cholestasis, cirrhosis, kidney involvement, failure to thrive)" "" "" "" "" "" "" "" "" "" "Alagille syndrome" "" "0000233141" "00750" "00307427" "00006" "Familial, autosomal dominant" "2y" "only few clinical symptoms (tetralogy of fallot, cholestasis)" "" "" "" "" "" "" "" "" "" "Alagille syndrome" "" "0000233142" "00750" "00307428" "00006" "Familial, autosomal dominant" "10y" "characteristic phenotype (face, heart, cholestasis, cirrhosis, rib anomalies)" "" "" "" "" "" "" "" "" "" "Alagille syndrome" "" "0000233143" "00750" "00307429" "00006" "Familial, autosomal dominant" "2y" "characteristic phenotype (face, heart, cholestasis, cirrhosis, failure to thrive)" "" "" "" "" "" "" "" "" "" "Alagille syndrome" "" "0000233144" "00750" "00307430" "00006" "Familial, autosomal dominant" "1m15d" "only few clinical symptoms (neonatal cholestasis, peripheral pulmonary artery stenosis)" "" "" "" "" "" "" "" "" "" "Alagille syndrome" "" "0000233166" "00750" "00307452" "04243" "Isolated (sporadic)" "15y" "characteristic phenotype (face, heart, cholestasis, cirrhosis, vertebral anomalies)" "00y01m" "" "cholestasis" "" "" "" "" "" "ALGS1" "Alagille syndrome" "" "0000233167" "00750" "00307453" "00006" "Unknown" "8y" "characteristic phenotype face, heart, failure to thrive, cirrhosis)" "" "" "" "" "" "" "" "" "" "Alagille syndrome" "" "0000233180" "00750" "00307617" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233181" "00750" "00307618" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233182" "00750" "00307619" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233183" "00750" "00307620" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233184" "00750" "00307621" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233185" "00750" "00307622" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233186" "00750" "00307623" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233187" "00750" "00307624" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233188" "00750" "00307625" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233189" "00750" "00307626" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233190" "00750" "00307627" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS incomplete" "" "0000233191" "00750" "00307628" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233192" "00750" "00307629" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233193" "00750" "00307630" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233194" "00750" "00307631" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233195" "00750" "00307632" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233196" "00750" "00307633" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233197" "00750" "00307634" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233198" "00750" "00307635" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233199" "00750" "00307636" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233200" "00750" "00307637" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233201" "00750" "00307638" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233202" "00750" "00307639" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS incomplete" "" "0000233203" "00750" "00307640" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS Incomplete" "" "0000233204" "00750" "00307641" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS Incomplete" "" "0000233205" "00750" "00307642" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233206" "00750" "00307643" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000233207" "00750" "00307644" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "ALGS1" "ALGS" "" "0000235352" "00750" "00310041" "02373" "Isolated (sporadic)" "" "Tetralogy of Fallot, end-stage renal disease, Dysmorphic facial features, horseshoe kidney" "" "" "" "" "" "" "" "" "" "" "" "0000237624" "00198" "00312529" "02551" "Unknown" "" "Cholestasis (HP:0001396)" "" "" "" "" "" "" "" "" "" "" "" "0000246631" "04214" "00328405" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246632" "04214" "00328406" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia" "" "0000249065" "00750" "00330874" "00006" "Unknown" "" "classic clinical Alagille syndrome" "" "" "" "" "" "" "" "" "" "Alagille syndrome" "" "0000250237" "04214" "00332046" "00000" "Familial, autosomal dominant" "24y" "reduced visual acuity; scotopic ERG borderline; photopic ERG borderline" "24y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000258707" "04214" "00363342" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258751" "04214" "00363386" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000259071" "04214" "00363721" "00000" "Isolated (sporadic)" "" "syndromic" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, obesity, and mild facial dysmorphism." "" "0000270568" "04214" "00375354" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270637" "04214" "00375423" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000273288" "04214" "00379415" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273289" "04214" "00379416" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia (loHM)" "" "0000274263" "00750" "00380413" "01164" "Unknown" "" "Large earlobe, Low-set ears, Abnormal second heart sound, Broad forehead, Hypertelorism, Neonatal sepsis, Hepatomegaly, Hemolytic anemia, Cholestasis, Neonatal hyperbilirubinemia, Abnormality of the liver" "" "" "" "" "" "" "" "" "" "" "" "0000275569" "04214" "00381727" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000280510" "04214" "00386710" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284614" "04214" "00391172" "00000" "Unknown" "25y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000287560" "04214" "00394356" "00000" "Familial, autosomal dominant" "" "Increased pressure on optic nerve, electroretinogram consistent with Alstrom syndrome" "" "" "" "" "" "" "" "" "Alagille syndrome" "" "" "0000325653" "06495" "00435463" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth weight 3.18kg (32nd), length 50.8cm (69th); weight 73.6kg (92nd), height 156.7 cm (17th), OFC 55.4 cm (84th), body mass index 30 kg/m2 (96th); Rhizomelic shortening and milder mesomelic shortening upper and lower extremities, short thumbs, bilateral short 5th fingers, hyperextensible fingers, bilateral middle finger clinodactyly, limited range of motion shoulder joints, chronic joint pain, juvenile idiopathic arthritis, bilateral patellofemoral joint dislocation; prominent forehead, downslanting palpebral fissures, broad nasal bridge, long philtrum; obesity, left-sided headaches, acanthosis nigricans, chronic stage 1 kidney disease, cafĂ© au lait macule on upper right arm, depressed mood, occasional abdominal pain, dizziness, nausea, left-sided small branchial cleft defect covered with skin without an obvious fistula; no cardiac anomalirs" "" "<00y06m" "" "" "" "" "" "" "RLSDF" "rhizomelic shortening of limbs, dysmorphic features" "" "0000334127" "00296" "00444877" "00006" "Unknown" "" "binocular, all white" "" "" "" "" "" "" "" "" "" "cataract" "" "0000335667" "00296" "00446446" "00006" "Familial, autosomal dominant" "" "monocular congenital cataract right" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335701" "00296" "00446481" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "OPA3" "congenital catarct" "" "0000337667" "00750" "00448479" "04614" "Familial, autosomal dominant" "1 month" "HP:0001622 Premature birth\r\nHP:0001511 Intrauterine growth retardation\r\nCholestasis HP:0001396\r\nPosterior embryotoxon HP:0000627" "00y00m00d" "00y02m" "Congenital onset" "" "" "" "" "" "Alagille Syndrome" "Cholestasis" "" "0000342418" "00152" "00453761" "00006" "Unknown" "" "aortic valve replacement" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342419" "00152" "00453762" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342420" "00152" "00453763" "00006" "Unknown" "" "coarctation repair; Sievers 0 A-P, coarctation" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342421" "00152" "00453764" "00006" "Unknown" "" "ventricular septal defect, atrial septal defect, patent ductus arteriosus, large ascending aneurysm" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000345930" "00152" "00457466" "04773" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1078 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000001623" "00001820" "1" "00102" "00102" "2013-08-08 23:09:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000081082" "00080970" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000229360" "00228270" "1" "01807" "01807" "2019-03-22 14:55:55" "" "" "SEQ" "DNA" "" "" "0000240111" "00239004" "1" "03298" "03298" "2019-05-30 20:48:09" "" "" "PCR" "DNA" "" "" "0000240112" "00239005" "1" "03298" "03298" "2019-05-30 20:54:26" "" "" "PCR" "DNA" "" "" "0000240113" "00239006" "1" "03298" "03298" "2019-05-30 21:01:29" "" "" "PCR" "DNA" "" "" "0000240114" "00239007" "1" "03298" "03298" "2019-05-30 21:07:33" "" "" "PCR" "DNA" "" "" "0000240115" "00239008" "1" "03298" "03298" "2019-05-30 21:12:27" "" "" "PCR" "DNA" "" "" "0000240116" "00239009" "1" "03298" "03298" "2019-05-30 21:22:28" "" "" "PCR" "DNA" "" "" "0000240117" "00239010" "1" "03298" "03298" "2019-05-30 21:26:37" "" "" "PCR" "DNA" "" "" "0000240118" "00239011" "1" "03298" "03298" "2019-05-30 21:30:31" "" "" "PCR" "DNA" "" "" "0000240119" "00239012" "1" "00006" "03298" "2019-05-30 21:32:56" "00006" "2020-08-11 16:08:22" "SEQ" "DNA" "" "" "0000240120" "00239013" "1" "00006" "03298" "2019-05-30 21:35:02" "00006" "2020-08-11 16:11:39" "SEQ" "DNA" "" "" "0000240121" "00239014" "1" "03298" "03298" "2019-05-30 21:36:46" "" "" "PCR" "DNA;RNA" "" "" "0000240123" "00239016" "1" "03298" "03298" "2019-05-30 21:42:24" "" "" "PCR" "DNA" "" "" "0000240156" "00239050" "1" "03298" "03298" "2019-05-31 14:49:34" "" "" "PCR" "DNA" "" "" "0000240159" "00239052" "1" "03298" "03298" "2019-05-31 14:53:44" "" "" "PCR" "DNA" "" "" "0000240160" "00239055" "1" "03298" "03298" "2019-05-31 14:55:20" "" "" "PCR" "DNA" "" "" "0000240163" "00239056" "1" "03298" "03298" "2019-05-31 14:57:16" "" "" "PCR" "DNA" "" "" "0000240164" "00239058" "1" "03298" "03298" "2019-05-31 15:03:13" "" "" "PCR" "DNA" "" "" "0000240167" "00239061" "1" "03298" "03298" "2019-05-31 15:07:26" "" "" "PCR" "DNA" "" "" "0000240168" "00239062" "1" "03298" "03298" "2019-05-31 15:09:00" "" "" "PCR" "DNA" "" "" "0000240171" "00239065" "1" "03298" "03298" "2019-05-31 15:15:35" "" "" "PCR" "DNA" "" "" "0000240177" "00239071" "1" "03298" "03298" "2019-05-31 15:33:59" "" "" "PCR" "DNA" "" "" "0000240178" "00239072" "1" "03298" "03298" "2019-05-31 15:35:40" "" "" "PCR" "DNA" "" "" "0000240179" "00239074" "1" "03298" "03298" "2019-05-31 15:37:07" "" "" "PCR" "DNA" "" "" "0000240181" "00239076" "1" "03298" "03298" "2019-05-31 15:39:29" "" "" "PCR" "DNA" "" "" "0000240183" "00239077" "1" "03298" "03298" "2019-05-31 15:41:32" "" "" "PCR" "DNA" "" "" "0000240184" "00239079" "1" "03298" "03298" "2019-05-31 15:43:13" "" "" "PCR" "DNA" "" "" "0000240189" "00239083" "1" "03298" "03298" "2019-05-31 15:51:31" "" "" "PCR" "DNA" "" "" "0000240194" "00239089" "1" "03298" "03298" "2019-05-31 15:57:22" "" "" "PCR" "DNA" "" "" "0000240203" "00239098" "1" "03298" "03298" "2019-05-31 16:13:43" "" "" "PCR" "DNA" "" "" "0000240204" "00239100" "1" "03298" "03298" "2019-05-31 16:15:16" "" "" "PCR" "DNA" "" "" "0000240206" "00239101" "1" "03298" "03298" "2019-05-31 16:17:17" "" "" "PCR" "DNA;RNA" "" "" "0000240208" "00239102" "1" "03298" "03298" "2019-05-31 16:18:43" "" "" "PCR" "DNA" "" "" "0000240209" "00239103" "1" "03298" "03298" "2019-05-31 16:21:44" "" "" "PCR" "DNA;RNA" "" "" "0000240344" "00239241" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240345" "00239242" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240346" "00239243" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240347" "00239244" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240348" "00239245" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240349" "00239246" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240350" "00239247" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240351" "00239248" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240352" "00239249" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240353" "00239250" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240354" "00239251" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240355" "00239252" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240356" "00239253" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240357" "00239254" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240358" "00239255" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240359" "00239256" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240360" "00239257" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240361" "00239258" "0" "00006" "00006" 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"2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240680" "00239577" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240681" "00239578" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240682" "00239579" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240683" "00239580" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240684" "00239581" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240685" "00239582" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240686" "00239583" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240687" "00239584" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240688" "00239585" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240689" "00239586" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240690" "00239587" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240691" "00239588" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240692" "00239589" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240693" "00239590" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240694" "00239591" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240695" "00239592" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240696" "00239593" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240697" "00239594" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240698" "00239595" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240699" "00239596" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240700" "00239597" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240701" "00239598" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240702" "00239599" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240703" "00239600" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240704" "00239601" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240705" "00239602" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240706" "00239603" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240707" "00239604" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240708" "00239605" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000240709" "00239606" "1" "00006" "00006" "2019-06-07 15:01:52" "" "" "SEQ" "DNA" "" "" "0000240710" "00239607" "1" "00006" "00006" "2019-06-07 15:01:52" "" "" "SEQ" "DNA" "" "" "0000240711" "00239608" "1" "00006" "00006" "2019-06-07 15:01:52" "" "" "SEQ" "DNA" "" "" "0000240712" "00239609" "1" "00006" "00006" "2019-06-07 15:01:52" "" "" "SEQ" "DNA" "" "" "0000240713" "00239610" "1" "00006" "00006" "2019-06-07 15:01:52" "" "" "SEQ" "DNA" "" "" "0000240714" "00239611" "1" "00006" "00006" "2019-06-07 15:01:52" "" "" "SEQ" "DNA" "" "" "0000240715" "00239612" "1" "00006" "00006" "2019-06-07 15:01:52" "" "" "SEQ" "DNA" "" "" "0000240716" "00239613" "1" "00006" "00006" "2019-06-07 15:01:52" "" "" "SEQ" "DNA" "" "" "0000240717" "00239614" "1" "00006" "00006" "2019-06-07 15:01:52" "" "" "SEQ" "DNA" "" "" "0000240718" "00239616" "1" "00006" "00006" "2019-06-07 15:42:12" "" "" "SEQ" "DNA" "" "" "0000240719" "00239617" "1" "00006" "00006" "2019-06-07 15:42:12" "" "" "SEQ" "DNA" "" "" "0000240721" "00239618" "1" "00006" "00006" "2019-06-07 16:04:03" "" "" "SEQ" "DNA" "" "" "0000240722" "00239619" "1" "00006" "00006" "2019-06-07 16:05:57" "" "" "SEQ" "DNA" "" "" "0000240723" "00239620" "1" "00006" "00006" "2019-06-07 16:16:24" "" "" "SEQ" "DNA" "" "" "0000240724" "00239621" "1" "00006" "00006" "2019-06-07 16:19:07" "" "" "SEQ" "DNA" "" "" "0000241247" "00240140" "1" "03298" "03298" "2019-06-11 16:05:14" "" "" "PCR" "DNA" "" "" "0000250530" "00249422" "1" "02950" "02950" "2019-07-31 11:55:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000263168" "00262062" "1" "03382" "03382" "2019-08-16 21:58:07" "03382" "2019-08-17 18:59:11" "SEQ" "DNA" "blood" "whole genome sequencing" "0000263189" "00262083" "1" "03382" "03382" "2019-08-17 14:31:39" "03382" "2019-08-17 19:01:39" "SEQ" "DNA" "blood" "whole genome sequencing" "0000263191" "00262085" "1" "03382" "03382" "2019-08-17 14:43:30" "03382" "2019-08-17 19:02:29" "SEQ" "DNA" "blood" "whole genome sequencing" "0000264590" "00263479" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264591" "00263480" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264592" "00263481" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264593" "00263482" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264595" "00263484" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264596" "00263485" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264597" "00263486" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264598" "00263487" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264599" "00263488" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264600" "00263489" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264601" "00263490" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264602" "00263491" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264603" "00263492" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264604" "00263493" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264605" "00263494" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264606" "00263495" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264608" "00263497" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264609" "00263498" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264610" "00263499" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264611" "00263500" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264612" "00263501" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264613" "00263502" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264614" "00263503" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264615" "00263504" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264616" "00263505" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264617" "00263506" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264618" "00263507" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264619" "00263508" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264620" "00263509" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264621" "00263510" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264622" "00263511" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264623" "00263512" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264624" "00263513" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264625" "00263514" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264626" "00263515" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264628" "00263517" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264629" "00263518" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264630" "00263519" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264631" "00263520" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264632" "00263521" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264633" "00263522" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264634" "00263523" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264635" "00263524" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264636" "00263525" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264637" "00263526" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264638" "00263527" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264639" "00263528" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264640" "00263529" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264641" "00263530" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264642" "00263531" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264643" "00263532" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264644" "00263533" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264645" "00263534" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264646" "00263535" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264647" "00263536" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264650" "00263539" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264651" "00263540" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264652" "00263541" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264653" "00263542" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264654" "00263543" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264655" "00263544" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264656" "00263545" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264657" "00263546" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264659" "00263548" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264660" "00263549" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264661" "00263550" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264663" "00263552" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264664" "00263553" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264665" "00263554" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264666" "00263555" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264667" "00263556" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264668" "00263557" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264669" "00263558" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264670" "00263559" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264671" "00263560" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264672" "00263561" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264673" "00263562" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264674" "00263563" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264676" "00263565" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264678" "00263567" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264679" "00263568" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264680" "00263569" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264681" "00263570" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264682" "00263571" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264683" "00263572" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264684" "00263573" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264685" "00263574" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264687" "00263576" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264688" "00263577" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264689" "00263578" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264690" "00263579" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264691" "00263580" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264692" "00263581" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264693" "00263582" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264694" "00263583" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264695" "00263584" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264696" "00263585" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264698" "00263587" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264699" "00263588" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264700" "00263589" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264701" "00263590" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264702" "00263591" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264703" "00263592" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264704" "00263593" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264705" "00263594" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264707" "00263596" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264708" "00263597" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264709" "00263598" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264710" "00263599" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264711" "00263600" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264712" "00263601" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264713" "00263602" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264714" "00263603" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264715" "00263604" "1" "03298" 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"0000264848" "00263737" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264849" "00263738" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264850" "00263739" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264851" "00263740" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264852" "00263741" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264853" "00263742" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264854" "00263743" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264855" "00263744" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264856" "00263745" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264857" "00263746" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264858" "00263747" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" 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18:43:23" "" "" "SEQ" "DNA" "" "" "0000264872" "00263761" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264873" "00263762" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264874" "00263763" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264875" "00263764" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264876" "00263765" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264877" "00263766" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264880" "00263769" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264881" "00263770" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264882" "00263771" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264885" "00263774" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264886" "00263775" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264887" "00263776" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264888" "00263777" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264889" "00263778" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264890" "00263779" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264891" "00263780" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264892" "00263781" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264893" "00263782" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264894" "00263783" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264895" "00263784" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264896" "00263785" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264897" "00263786" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264899" "00263788" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264900" "00263789" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264901" "00263790" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264902" "00263791" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264903" "00263792" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264904" "00263793" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264905" "00263794" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264908" "00263797" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264909" "00263798" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264913" "00263802" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264914" "00263803" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264915" "00263804" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264916" "00263805" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264917" "00263806" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264918" "00263807" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264919" "00263808" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264920" "00263809" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264921" "00263810" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264922" "00263811" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264924" "00263813" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264925" "00263814" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264926" "00263815" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264928" "00263817" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264929" "00263818" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264931" "00263820" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264932" "00263821" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264933" "00263822" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264934" "00263823" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264935" "00263824" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264936" "00263825" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264937" "00263826" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264938" "00263827" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264939" "00263828" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264941" "00263830" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264942" "00263831" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264945" "00263834" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264946" "00263835" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264947" "00263836" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264948" "00263837" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264949" "00263838" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264951" "00263840" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA;RNA" "" "" "0000264953" "00263842" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264954" "00263843" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ" "DNA" "" "" "0000264955" "00263844" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264956" "00263845" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264957" "00263846" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264958" "00263847" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264959" "00263848" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264960" "00263849" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264961" "00263850" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264962" "00263851" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264963" "00263852" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264964" "00263853" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264965" "00263854" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264966" "00263855" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264967" "00263856" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264968" "00263857" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264969" "00263858" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264970" "00263859" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264971" "00263860" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264972" "00263861" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264973" "00263862" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264974" "00263863" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264975" "00263864" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264976" "00263865" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264977" "00263866" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264978" "00263867" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264979" "00263868" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264980" "00263869" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264981" "00263870" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264982" "00263871" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264983" "00263872" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264984" "00263873" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264985" "00263874" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264986" "00263875" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264987" "00263876" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264989" "00263878" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264990" "00263879" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264991" "00263880" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264992" "00263881" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264993" "00263882" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264994" "00263883" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264995" "00263884" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;MLPA" "DNA" "" "" "0000264996" "00263885" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264997" "00263886" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000264998" "00263887" "1" "03298" "00001" "2019-08-30 18:43:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000294034" "00292866" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294035" "00292867" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294037" "00292869" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294038" "00292870" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305971" "00304842" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307020" "00305889" "1" "03695" "03695" "2020-07-05 13:03:45" "" "" "SEQ-NG" "DNA" "" "" "0000307081" "00305950" "1" "03695" "03695" "2020-07-06 01:38:16" "" "" "SEQ-NG" "DNA" "" "" "0000307254" "00306125" "1" "03695" "03695" "2020-07-08 15:00:12" "" "" "SEQ-NG" "DNA" "" "" "0000308476" "00307334" "1" "00006" "00006" "2020-08-11 08:56:50" "" "" "FISH" "DNA" "" "" "0000308477" "00307335" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000308478" "00307336" "0" "00006" "00006" "2019-06-07 12:21:55" "" "" "SEQ" "DNA" "" "" "0000308479" "00307337" "1" "00006" "00006" "2020-08-11 15:44:19" "" "" "SEQ" "DNA" "" "" "0000308480" "00307338" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308481" "00307339" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308482" "00307340" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308483" "00307341" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308484" "00307342" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308485" "00307343" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308486" "00307344" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308487" "00307345" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308488" "00307346" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308489" "00307347" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308490" "00307348" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308491" "00307349" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308492" "00307350" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308493" "00307351" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308494" "00307352" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308495" "00307353" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308496" "00307354" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308497" "00307355" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308498" "00307356" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308499" "00307357" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308500" "00307358" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308501" "00307359" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308502" "00307360" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308503" "00307361" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308504" "00307362" "1" "00006" "00006" "2020-08-11 17:26:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308505" "00307363" "1" "00006" "00006" "2020-08-11 20:49:30" "" "" "SEQ" "DNA" "" "" "0000308506" "00307364" "1" "00006" "00006" "2020-08-11 20:49:30" "" "" "SEQ" "DNA" "" "" "0000308507" "00307365" "1" "00006" "00006" "2020-08-11 20:49:30" "" "" "SEQ" "DNA" "" "" "0000308508" "00307366" "1" "00006" "00006" "2020-08-11 20:49:30" "" "" "SEQ" "DNA" "" "" "0000308509" "00307367" "1" "00006" "00006" "2020-08-11 20:49:30" "" "" "SEQ" "DNA" "" "" "0000308510" "00307368" "1" "00006" "00006" "2020-08-11 20:49:30" "" "" "SEQ" "DNA" "" "" "0000308511" "00307369" "1" "00006" "00006" "2020-08-11 20:49:30" "" "" "SEQ" "DNA" "" "" "0000308512" "00307370" "1" "00006" "00006" "2020-08-11 20:49:30" "" "" "SEQ" "DNA" "" "" "0000308513" "00307371" "1" "00006" "00006" "2020-08-11 20:49:30" "" "" "SEQ" "DNA" "" "" "0000308514" "00307372" "1" "00006" "00006" "2020-08-11 20:49:30" "" "" "SEQ" "DNA" "" "" "0000308515" "00307373" "1" "00006" "00006" "2020-08-11 20:49:30" "" "" "SEQ" "DNA" "" "" "0000308516" "00307374" "1" "00006" "00006" "2020-08-11 20:49:30" "" "" "SEQ" "DNA" "" "" "0000308517" "00307375" "1" "00006" "00006" "2020-08-12 08:15:14" "" "" "PCR;Southern" "DNA" "" "" "0000308544" "00307406" "1" "00006" "00006" "2020-08-13 13:26:57" "00006" "2020-08-13 13:30:04" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308545" "00307407" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308546" "00307408" "1" "00006" "00006" "2020-08-13 13:26:57" "00006" "2020-08-13 13:32:58" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000308547" "00307409" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308548" "00307410" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308549" "00307411" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308550" "00307412" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308551" "00307413" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308552" "00307414" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308553" "00307415" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308554" "00307416" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308555" "00307417" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308556" "00307418" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308557" "00307419" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308558" "00307420" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308559" "00307421" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308560" "00307422" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308561" "00307423" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308562" "00307424" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" "SEQ" "DNA" "" "" "0000308563" "00000030" "1" "00006" "00006" "2020-08-13 13:26:57" "" "" 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"0000308685" "JAG1" "0000308686" "JAG1" "0000308687" "JAG1" "0000308688" "JAG1" "0000308689" "JAG1" "0000308690" "JAG1" "0000308691" "JAG1" "0000308692" "JAG1" "0000308693" "JAG1" "0000308694" "JAG1" "0000308695" "JAG1" "0000308698" "JAG1" "0000308699" "JAG1" "0000308700" "JAG1" "0000308701" "JAG1" "0000308702" "JAG1" "0000308703" "JAG1" "0000308704" "JAG1" "0000308705" "JAG1" "0000308706" "JAG1" "0000308707" "JAG1" "0000308708" "JAG1" "0000308709" "JAG1" "0000308710" "JAG1" "0000308711" "JAG1" "0000308712" "JAG1" "0000308716" "JAG1" "0000308717" "JAG1" "0000308718" "JAG1" "0000308719" "JAG1" "0000308720" "JAG1" "0000308721" "JAG1" "0000308722" "JAG1" "0000308723" "JAG1" "0000308724" "JAG1" "0000308725" "JAG1" "0000308726" "JAG1" "0000308727" "JAG1" "0000308728" "JAG1" "0000308729" "JAG1" "0000308730" "JAG1" "0000308732" "JAG1" "0000308733" "JAG1" "0000308734" "JAG1" "0000308735" "JAG1" "0000308736" "JAG1" "0000308737" "JAG1" "0000308738" "JAG1" "0000308739" "JAG1" "0000308740" "JAG1" "0000308741" "JAG1" "0000308742" "JAG1" "0000308743" "JAG1" "0000308744" "JAG1" "0000308745" "JAG1" "0000308746" "JAG1" "0000308747" "JAG1" "0000308748" "JAG1" "0000308749" "JAG1" "0000308750" "JAG1" "0000308751" "JAG1" "0000308752" "JAG1" "0000308753" "JAG1" "0000308754" "JAG1" "0000308755" "JAG1" "0000308757" "JAG1" "0000308758" "JAG1" "0000308759" "JAG1" "0000308760" "JAG1" "0000308761" "JAG1" "0000308762" "JAG1" "0000308763" "JAG1" "0000308764" "JAG1" "0000308765" "JAG1" "0000308766" "JAG1" "0000308767" "JAG1" "0000308768" "JAG1" "0000308769" "JAG1" "0000308770" "JAG1" "0000308771" "JAG1" "0000308772" "JAG1" "0000308773" "JAG1" "0000308774" "JAG1" "0000308775" "JAG1" "0000308776" "JAG1" "0000308777" "JAG1" "0000308778" "JAG1" "0000308779" "JAG1" "0000308780" "JAG1" "0000308781" "JAG1" "0000308782" "JAG1" "0000308783" "JAG1" "0000308784" "JAG1" "0000308979" "JAG1" "0000308980" "JAG1" "0000308981" "JAG1" "0000308982" "JAG1" "0000308983" "JAG1" "0000308984" "JAG1" "0000308985" "JAG1" "0000308987" "JAG1" "0000308988" "JAG1" "0000308990" "JAG1" "0000308991" "JAG1" "0000308992" "JAG1" "0000308993" "JAG1" "0000309910" "JAG1" "0000329619" "CRX" "0000329619" "JAG1" "0000329620" "JAG1" "0000332089" "JAG1" "0000332092" "JAG1" "0000333265" "JAG1" "0000364570" "COL11A1" "0000364614" "JAG1" "0000364949" "JAG1" "0000376551" "JAG1" "0000380615" "JAG1" "0000380616" "JAG1" "0000381627" "JAG1" "0000382943" "JAG1" "0000387938" "JAG1" "0000392414" "JAG1" "0000395603" "JAG1" "0000414068" "JAG1" "0000462547" "JAG1" ## 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 = 1458 "{{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}}" "0000000897" "3" "50" "20" "10618574" "10618574" "subst" "0" "00002" "JAG1_000001" "g.10618574T>C" "" "{PMID:Almomani 2011:21102627} {dbSNP:8708}" "" "" "" "Germline" "" "" "" "" "" "g.10637926T>C" "" "VUS" "" "0000000898" "1" "50" "20" "10620275" "10620275" "subst" "0.242743" "00002" "JAG1_000002" "g.10620275G>A" "" "{PMID:Almomani 2011:21102627} {dbSNP:1051421}" "" "" "" "Germline" "" "" "" "" "" "g.10639627G>A" "" "VUS" "" "0000000899" "1" "50" "20" "10633313" "10633313" "subst" "0" "00002" "JAG1_000003" "g.10633313T>C" "" "{PMID:Almomani 2011:21102627} {dbSNP:6040055}" "" "" "" "Germline" "" "" "" "" "" "g.10652665T>C" "" "VUS" "" "0000019536" "0" "55" "20" "10629310" "10629311" "ins" "0" "00102" "JAG1_000004" "g.10629310_10629311insCA" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10648662_10648663insCA" "" "VUS" "" "0000130168" "0" "90" "20" "10623142" "10623142" "subst" "0" "01758" "JAG1_000005" "g.10623142G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.10642494G>A" "" "pathogenic" "ACMG" "0000247658" "0" "10" "20" "10632876" "10632876" "subst" "0.00105232" "02330" "JAG1_000072" "g.10632876A>G" "" "" "" "JAG1(NM_000214.3):c.909T>C (p.H303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10652228A>G" "" "benign" "" "0000248717" "0" "10" "20" "10620386" "10620386" "subst" "0.651153" "02325" "JAG1_000007" "g.10620386A>G" "" "" "" "JAG1(NM_000214.3):c.3417T>C (p.Y1139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10639738A>G" "" "benign" "" "0000253367" "0" "10" "20" "10632876" "10632876" "subst" "0.00105232" "01943" "JAG1_000072" "g.10632876A>G" "" "" "" "JAG1(NM_000214.3):c.909T>C (p.H303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10652228A>G" "" "benign" "" "0000254794" "0" "30" "20" "10632891" "10632891" "subst" "0.000483818" "01943" "JAG1_000073" "g.10632891A>G" "" "" "" "JAG1(NM_000214.3):c.894T>C (p.N298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10652243A>G" "" "likely benign" "" "0000255422" "0" "90" "20" "10626091" "10626091" "del" "0" "01943" "JAG1_000049" "g.10626091del" "" "" "" "JAG1(NM_000214.3):c.2026delT (p.C676Afs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10645443del" "" "pathogenic" "" "0000255771" "0" "90" "20" "10622106" "10622106" "subst" "0" "01943" "JAG1_000018" "g.10622106A>G" "" "" "" "JAG1(NM_000214.3):c.2916+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641458A>G" "" "pathogenic" "" "0000255772" "0" "90" "20" "10622429" "10622429" "subst" "0" "01943" "JAG1_000025" "g.10622429A>C" "" "" "" "JAG1(NM_000214.3):c.2682+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641781A>C" "" "pathogenic" "" "0000256577" "0" "50" "20" "10644643" "10644643" "subst" "0" "01943" "JAG1_000095" "g.10644643A>G" "" "" "" "JAG1(NM_000214.3):c.407T>C (p.V136A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10663995A>G" "" "VUS" "" "0000278144" "0" "10" "20" "10628750" "10628750" "subst" "0.00129185" "02330" "JAG1_000057" "g.10628750G>A" "" "" "" "JAG1(NM_000214.3):c.1578C>T (p.I526=, p.(Ile526=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10648102G>A" "" "benign" "" "0000278145" "0" "10" "20" "10628720" "10628720" "subst" "7.7168E-5" "02330" "JAG1_000055" "g.10628720G>A" "" "" "" "JAG1(NM_000214.3):c.1608C>T (p.N536=, p.(Asn536=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10648072G>A" "" "benign" "" "0000278146" "0" "10" "20" "10622556" "10622556" "subst" "0.00150165" "02330" "JAG1_000030" "g.10622556G>A" "" "" "" "JAG1(NM_000214.3):c.2573-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641908G>A" "" "benign" "" "0000278147" "0" "30" "20" "10622296" "10622296" "subst" "1.22116E-5" "02330" "JAG1_000023" "g.10622296C>T" "" "" "" "JAG1(NM_000214.3):c.2728G>A (p.E910K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641648C>T" "" "likely benign" "" "0000278148" "0" "10" "20" "10639324" "10639324" "subst" "0" "02330" "JAG1_000089" "g.10639324G>A" "" "" "" "JAG1(NM_000214.3):c.486C>T (p.N162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10658676G>A" "" "benign" "" "0000278149" "0" "10" "20" "10639111" "10639112" "del" "0" "02330" "JAG1_000082" "g.10639111_10639112del" "" "" "" "JAG1(NM_000214.3):c.694+16_694+17delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10658463_10658464del" "" "benign" "" "0000278150" "0" "10" "20" "10633097" "10633097" "subst" "0.00214559" "02330" "JAG1_000074" "g.10633097T>A" "" "" "" "JAG1(NM_000214.3):c.886+19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10652449T>A" "" "benign" "" "0000281619" "0" "30" "20" "10622501" "10622501" "subst" "0.0640936" "02325" "JAG1_000028" "g.10622501G>C" "" "" "" "JAG1(NM_000214.3):c.2612C>G (p.P871R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641853G>C" "" "likely benign" "" "0000281620" "0" "10" "20" "10622090" "10622090" "dup" "0" "02325" "JAG1_000017" "g.10622090dup" "" "" "" "JAG1(NM_000214.3):c.2916+27dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641442dup" "" "benign" "" "0000281621" "0" "10" "20" "10639222" "10639222" "subst" "0.10558" "02325" "JAG1_000085" "g.10639222G>A" "" "" "" "JAG1(NM_000214.3):c.588C>T (p.C196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10658574G>A" "" "benign" "" "0000281622" "0" "10" "20" "10633237" "10633237" "subst" "0.456237" "02325" "JAG1_000078" "g.10633237G>A" "" "" "" "JAG1(NM_000214.3):c.765C>T (p.Y255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10652589G>A" "" "benign" "" "0000281623" "0" "30" "20" "10633097" "10633097" "subst" "0.00214559" "02325" "JAG1_000074" "g.10633097T>A" "" "" "" "JAG1(NM_000214.3):c.886+19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10652449T>A" "" "likely benign" "" "0000281624" "0" "50" "20" "10632791" "10632791" "subst" "1.21847E-5" "02325" "JAG1_000070" "g.10632791T>C" "" "" "" "JAG1(NM_000214.3):c.994A>G (p.N332D, p.(Asn332Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10652143T>C" "" "VUS" "" "0000285406" "0" "30" "20" "10628750" "10628750" "subst" "0.00129185" "02326" "JAG1_000057" "g.10628750G>A" "" "" "" "JAG1(NM_000214.3):c.1578C>T (p.I526=, p.(Ile526=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10648102G>A" "" "likely benign" "" "0000285407" "0" "10" "20" "10622501" "10622501" "subst" "0.0640936" "02326" "JAG1_000028" "g.10622501G>C" "" "" "" "JAG1(NM_000214.3):c.2612C>G (p.P871R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641853G>C" "" "benign" "" "0000285408" "0" "10" "20" "10644614" "10644614" "subst" "0.00306188" "02326" "JAG1_000094" "g.10644614C>T" "" "" "" "JAG1(NM_000214.3):c.436G>A (p.V146I, p.(Val146Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10663966C>T" "" "benign" "" "0000285409" "0" "10" "20" "10639222" "10639222" "subst" "0.10558" "02326" "JAG1_000085" "g.10639222G>A" "" "" "" "JAG1(NM_000214.3):c.588C>T (p.C196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10658574G>A" "" "benign" "" "0000285410" "0" "10" "20" "10633237" "10633237" "subst" "0.456237" "02326" "JAG1_000078" "g.10633237G>A" "" "" "" "JAG1(NM_000214.3):c.765C>T (p.Y255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10652589G>A" "" "benign" "" "0000285411" "0" "70" "20" "10633182" "10633182" "subst" "0" "02326" "JAG1_000075" "g.10633182C>G" "" "" "" "JAG1(NM_000214.3):c.820G>C (p.G274R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10652534C>G" "" "likely pathogenic" "" "0000289839" "0" "90" "20" "10630978" "10630978" "del" "0" "01943" "JAG1_000068" "g.10630978del" "" "" "" "JAG1(NM_000214.3):c.1153delC (p.H385Tfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10650330del" "" "pathogenic" "" "0000289840" "0" "90" "20" "10630973" "10630973" "subst" "0" "01943" "JAG1_000067" "g.10630973C>T" "" "" "" "JAG1(NM_000214.3):c.1156G>A (p.G386R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10650325C>T" "" "pathogenic" "" "0000289841" "0" "50" "20" "10630934" "10630934" "subst" "5.28331E-5" "01943" "JAG1_000066" "g.10630934C>T" "" "" "" "JAG1(NM_000214.3):c.1195G>A (p.V399M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10650286C>T" "" "VUS" "" "0000289842" "0" "90" "20" "10630922" "10630922" "subst" "0" "01943" "JAG1_000065" "g.10630922G>A" "" "" "" "JAG1(NM_000214.3):c.1207C>T (p.Q403*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10650274G>A" "" "pathogenic" "" "0000289844" "0" "90" "20" "10629313" "10629316" "del" "0" "01943" "JAG1_000062" "g.10629313_10629316del" "" "" "" "JAG1(NM_000214.3):c.1450_1453delTGTG (p.C484Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10648665_10648668del" "" "pathogenic" "" "0000289845" "0" "90" "20" "10629312" "10629313" "del" "0" "01943" "JAG1_000061" "g.10629312_10629313del" "" "" "" "JAG1(NM_000214.3):c.1459_1460delGA (p.D487Hfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10648664_10648665del" "" "pathogenic" "" "0000289846" "0" "90" "20" "10629280" "10629281" "del" "0" "01943" "JAG1_000060" "g.10629280_10629281del" "" "" "" "JAG1(NM_000214.3):c.1485_1486delCT (p.C496Ffs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10648632_10648633del" "" "pathogenic" "" "0000289847" "0" "90" "20" "10629271" "10629271" "del" "0" "01943" "JAG1_000059" "g.10629271del" "" "" "" "JAG1(NM_000214.3):c.1499delG (p.G500Vfs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10648623del" "" "pathogenic" "" "0000289848" "0" "90" "20" "10629253" "10629253" "subst" "0" "01943" "JAG1_000058" "g.10629253C>A" "" "" "" "JAG1(NM_000214.3):c.1513G>T (p.E505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10648605C>A" "" "pathogenic" "" "0000289849" "0" "10" "20" "10628750" "10628750" "subst" "0.00129185" "01943" "JAG1_000057" "g.10628750G>A" "" "" "" "JAG1(NM_000214.3):c.1578C>T (p.I526=, p.(Ile526=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10648102G>A" "" "benign" "" "0000289850" "0" "90" "20" "10628742" "10628742" "del" "0" "01943" "JAG1_000056" "g.10628742del" "" "" "" "JAG1(NM_000214.3):c.1586delG (p.C529Lfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10648094del" "" "pathogenic" "" "0000289851" "0" "10" "20" "10627772" "10627772" "subst" "0.00562808" "01943" "JAG1_000054" "g.10627772C>T" "" "" "" "JAG1(NM_000214.3):c.1721-21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10647124C>T" "" "benign" "" "0000289852" "0" "30" "20" "10627717" "10627717" "subst" "0.000369606" "01943" "JAG1_000053" "g.10627717G>A" "" "" "" "JAG1(NM_000214.3):c.1755C>T (p.N585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10647069G>A" "" "likely benign" "" "0000289853" "0" "30" "20" "10627597" "10627597" "subst" "4.06068E-6" "01943" "JAG1_000052" "g.10627597G>A" "" "" "" "JAG1(NM_000214.3):c.1875C>T (p.Y625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10646949G>A" "" "likely benign" "" "0000289854" "0" "90" "20" "10626720" "10626721" "del" "0" "01943" "JAG1_000051" "g.10626720_10626721del" "" "" "" "JAG1(NM_000214.3):c.1899_1900delTG (p.C633*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10646072_10646073del" "" "pathogenic" "" "0000289856" "0" "90" "20" "10626640" "10626640" "subst" "0" "01943" "JAG1_000050" "g.10626640C>A" "" "" "" "JAG1(NM_000214.3):c.1978G>T (p.E660*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10645992C>A" "" "pathogenic" "" "0000289857" "0" "90" "20" "10626022" "10626022" "subst" "0" "01943" "JAG1_000048" "g.10626022C>A" "" "" "" "JAG1(NM_000214.3):c.2095G>T (p.G699*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10645374C>A" "" "pathogenic" "" "0000289858" "0" "90" "20" "10625905" "10625915" "del" "0" "01943" "JAG1_000047" "g.10625905_10625915del" "" "" "" "JAG1(NM_000214.3):c.2114-11_2114-1delTTTTCCTCCAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10645257_10645267del" "" "pathogenic" "" "0000289859" "0" "90" "20" "10625900" "10625901" "del" "0" "01943" "JAG1_000046" "g.10625900_10625901del" "" "" "" "JAG1(NM_000214.3):c.2118_2119delCA (p.D706Efs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10645252_10645253del" "" "pathogenic" "" "0000289860" "0" "90" "20" "10625897" "10625900" "del" "0" "01943" "JAG1_000045" "g.10625897_10625900del" "" "" "" "JAG1(NM_000214.3):c.2122_2125delCAGT (p.Q708Vfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10645249_10645252del" "" "pathogenic" "" "0000289861" "0" "10" "20" "10625819" "10625819" "subst" "2.43651E-5" "01943" "JAG1_000044" "g.10625819G>A" "" "" "" "JAG1(NM_000214.3):c.2199C>T (p.G733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10645171G>A" "" "benign" "" "0000289862" "0" "90" "20" "10625810" "10625813" "del" "0" "01943" "JAG1_000043" "g.10625810_10625813del" "" "" "" "JAG1(NM_000214.3):c.2209_2212delGGAA (p.G737Qfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10645162_10645165del" "" "pathogenic" "" "0000289863" "0" "10" "20" "10625774" "10625774" "subst" "0.00179913" "01943" "JAG1_000042" "g.10625774G>A" "" "" "" "JAG1(NM_000214.3):c.2227+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10645126G>A" "" "benign" "" "0000289864" "0" "90" "20" "10625625" "10625625" "subst" "0" "01943" "JAG1_000041" "g.10625625G>A" "" "" "" "JAG1(NM_000214.3):c.2230C>T (p.R744*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000289865" "0" "90" "20" "10625551" "10625551" "subst" "0" "01943" "JAG1_000040" "g.10625551G>T" "" "" "" "JAG1(NM_000214.3):c.2304C>A (p.C768*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10644903G>T" "" "pathogenic" "" "0000289866" "0" "90" "20" "10625512" "10625513" "del" "0" "01943" "JAG1_000039" "g.10625512_10625513del" "" "" "" "JAG1(NM_000214.3):c.2344_2344+1delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10644864_10644865del" "" "pathogenic" "" "0000289867" "0" "90" "20" "10625509" "10625509" "del" "0" "01943" "JAG1_000038" "g.10625509del" "" "" "" "JAG1(NM_000214.3):c.2344+2delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10644861del" "" "pathogenic" "" "0000289868" "0" "10" "20" "10624502" "10624502" "subst" "0.0222216" "01943" "JAG1_000037" "g.10624502G>A" "" "" "" "JAG1(NM_000214.3):c.2382C>T (p.S794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10643854G>A" "" "benign" "" "0000289869" "0" "90" "20" "10624488" "10624491" "del" "0" "01943" "JAG1_000036" "g.10624488_10624491del" "" "" "" "JAG1(NM_000214.3):c.2397_2400delTGGA (p.D799Efs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10643840_10643843del" "" "pathogenic" "" "0000289870" "0" "90" "20" "10624465" "10624465" "subst" "0" "01943" "JAG1_000035" "g.10624465C>A" "" "" "" "JAG1(NM_000214.3):c.2419G>T (p.E807*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10643817C>A" "" "pathogenic" "" "0000289871" "0" "10" "20" "10624398" "10624398" "subst" "0.00423147" "01943" "JAG1_000034" "g.10624398G>A" "" "" "" "JAG1(NM_000214.3):c.2458+28C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10643750G>A" "" "benign" "" "0000289872" "0" "10" "20" "10624396" "10624396" "subst" "0.0306913" "01943" "JAG1_000033" "g.10624396T>C" "" "" "" "JAG1(NM_000214.3):c.2458+30A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10643748T>C" "" "benign" "" "0000289873" "0" "10" "20" "10623266" "10623266" "subst" "0.00684184" "01943" "JAG1_000032" "g.10623266T>G" "" "" "" "JAG1(NM_000214.3):c.2459-17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10642618T>G" "" "benign" "" "0000289874" "0" "90" "20" "10623135" "10623135" "subst" "0" "01943" "JAG1_000031" "g.10623135C>A" "" "" "" "JAG1(NM_000214.3):c.2572+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10642487C>A" "" "pathogenic" "" "0000289875" "0" "90" "20" "10622508" "10622508" "del" "0" "01943" "JAG1_000029" "g.10622508del" "" "" "" "JAG1(NM_000214.3):c.2605delG (p.V869*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641860del" "" "pathogenic" "" "0000289876" "0" "10" "20" "10622501" "10622501" "subst" "0.0640936" "01943" "JAG1_000028" "g.10622501G>C" "" "" "" "JAG1(NM_000214.3):c.2612C>G (p.P871R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641853G>C" "" "benign" "" "0000289877" "0" "90" "20" "10622486" "10622486" "subst" "0" "01943" "JAG1_000027" "g.10622486C>T" "" "" "" "JAG1(NM_000214.3):c.2627G>A (p.W876*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641838C>T" "" "pathogenic" "" "0000289878" "0" "50" "20" "10622462" "10622462" "subst" "0" "01943" "JAG1_000026" "g.10622462T>G" "" "" "" "JAG1(NM_000214.3):c.2651A>C (p.Q884P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641814T>G" "" "VUS" "" "0000289879" "0" "10" "20" "10653469" "10653469" "subst" "0.096008" "01943" "JAG1_000101" "g.10653469C>T" "" "" "" "JAG1(NM_000214.3):c.267G>A (p.G89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10672821C>T" "" "benign" "" "0000289880" "0" "90" "20" "10622326" "10622326" "subst" "0" "01943" "JAG1_000024" "g.10622326G>A" "" "" "" "JAG1(NM_000214.3):c.2698C>T (p.R900*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641678G>A" "" "pathogenic" "" "0000289881" "0" "10" "20" "10653466" "10653466" "subst" "0.00609995" "01943" "JAG1_000100" "g.10653466C>A" "" "" "" "JAG1(NM_000214.3):c.270G>T (p.G90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10672818C>A" "" "benign" "" "0000289882" "0" "10" "20" "10622258" "10622258" "subst" "0.00413106" "01943" "JAG1_000022" "g.10622258G>A" "" "" "" "JAG1(NM_000214.3):c.2766C>T (p.D922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641610G>A" "" "benign" "" "0000289883" "0" "30" "20" "10622246" "10622246" "subst" "0.000707202" "01943" "JAG1_000021" "g.10622246G>A" "" "" "" "JAG1(NM_000214.3):c.2778C>T (p.F926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641598G>A" "" "likely benign" "" "0000289884" "0" "50" "20" "10622214" "10622214" "subst" "0.00192595" "01943" "JAG1_000020" "g.10622214C>T" "" "" "" "JAG1(NM_000214.2):c.2810G>A (p.(Arg937Gln)), JAG1(NM_000214.3):c.2810G>A (p.R937Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641566C>T" "" "VUS" "" "0000289886" "0" "10" "20" "10621922" "10621922" "subst" "0.00491019" "01943" "JAG1_000015" "g.10621922T>C" "" "" "" "JAG1(NM_000214.3):c.2917-30A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641274T>C" "" "benign" "" "0000289887" "0" "10" "20" "10621923" "10621923" "del" "0" "01943" "JAG1_000016" "g.10621923del" "" "" "" "JAG1(NM_000214.3):c.2917-31delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641275del" "" "benign" "" "0000289888" "0" "90" "20" "10621861" "10621880" "del" "0" "01943" "JAG1_000013" "g.10621861_10621880del" "" "" "" "JAG1(NM_000214.3):c.2932_2951delCACATTTGCAGTGAATTGAG (p.H978Efs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641213_10641232del" "" "pathogenic" "" "0000289889" "0" "10" "20" "10653442" "10653442" "subst" "0.00331706" "01943" "JAG1_000099" "g.10653442G>A" "" "" "" "JAG1(NM_000214.3):c.294C>T (p.S98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10672794G>A" "" "benign" "" "0000289890" "0" "30" "20" "10621731" "10621731" "subst" "0" "01943" "JAG1_000012" "g.10621731T>G" "" "" "" "JAG1(NM_000214.3):c.3048+30A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641083T>G" "" "likely benign" "" "0000289892" "0" "90" "20" "10621438" "10621442" "del" "0" "01943" "JAG1_000011" "g.10621438_10621442del" "" "" "" "JAG1(NM_000214.3):c.3195_3199delAACAG (p.T1066Ffs*41)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10640790_10640794del" "" "pathogenic" "" "0000289893" "0" "50" "20" "10620412" "10620412" "subst" "4.87298E-5" "01943" "JAG1_000009" "g.10620412C>T" "" "" "" "JAG1(NM_000214.3):c.3391G>A (p.A1131T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10639764C>T" "" "VUS" "" "0000289895" "0" "10" "20" "10644614" "10644614" "subst" "0.00306188" "01943" "JAG1_000094" "g.10644614C>T" "" "" "" "JAG1(NM_000214.3):c.436G>A (p.V146I, p.(Val146Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10663966C>T" "" "benign" "" "0000289896" "0" "90" "20" "10644610" "10644610" "subst" "0" "01943" "JAG1_000092" "g.10644610C>T" "" "" "" "JAG1(NM_000214.2):c.439+1G>A (p.?), JAG1(NM_000214.3):c.439+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10663962C>T" "" "pathogenic" "" "0000289897" "0" "90" "20" "10644611" "10644611" "subst" "0" "01943" "JAG1_000093" "g.10644611G>A" "" "" "" "JAG1(NM_000214.3):c.439C>T (p.Q147*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10663963G>A" "" "pathogenic" "" "0000289899" "0" "90" "20" "10639371" "10639371" "subst" "0" "01943" "JAG1_000090" "g.10639371C>G" "" "" "" "JAG1(NM_000214.3):c.440-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10658723C>G" "" "pathogenic" "" "0000289900" "0" "90" "20" "10639259" "10639259" "subst" "0" "01943" "JAG1_000087" "g.10639259C>T" "" "" "" "JAG1(NM_000214.3):c.551G>A (p.R184H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic" "" "0000289901" "0" "90" "20" "10639237" "10639237" "subst" "0" "01943" "JAG1_000086" "g.10639237G>T" "" "" "" "JAG1(NM_000214.3):c.573C>A (p.Y191*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10658589G>T" "" "pathogenic" "" "0000289902" "0" "10" "20" "10639222" "10639222" "subst" "0.10558" "01943" "JAG1_000085" "g.10639222G>A" "" "" "" "JAG1(NM_000214.3):c.588C>T (p.C196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10658574G>A" "" "benign" "" "0000289903" "0" "50" "20" "10639200" "10639200" "subst" "0" "01943" "JAG1_000084" "g.10639200C>G" "" "" "" "JAG1(NM_000214.3):c.610G>C (p.D204H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10658552C>G" "" "VUS" "" "0000289904" "0" "90" "20" "10654110" "10654111" "delins" "0" "01943" "JAG1_000103" "g.10654110_10654111delinsC" "" "" "" "JAG1(NM_000214.3):c.68_69delCCinsG (p.A23Gfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10673462_10673463delinsC" "" "pathogenic" "" "0000289905" "0" "90" "20" "10639115" "10639115" "subst" "0" "01943" "JAG1_000083" "g.10639115C>T" "" "" "" "JAG1(NM_000214.3):c.694+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10658467C>T" "" "pathogenic" "" "0000289906" "0" "90" "20" "10637098" "10637098" "subst" "0" "01943" "JAG1_000081" "g.10637098G>A" "" "" "" "JAG1(NM_000214.3):c.703C>T (p.R235*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic" "" "0000289907" "0" "90" "20" "10637087" "10637087" "subst" "0" "01943" "JAG1_000080" "g.10637087G>T" "" "" "" "JAG1(NM_000214.3):c.714C>A (p.C238*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10656439G>T" "" "pathogenic" "" "0000289908" "0" "10" "20" "10637057" "10637057" "subst" "0.0726782" "01943" "JAG1_000079" "g.10637057T>C" "" "" "" "JAG1(NM_000214.3):c.744A>G (p.P248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10656409T>C" "" "benign" "" "0000289909" "0" "90" "20" "10633204" "10633204" "del" "0" "01943" "JAG1_000076" "g.10633204del" "" "" "" "JAG1(NM_000214.3):c.800delC (p.P267Hfs*145)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10652556del" "" "pathogenic" "" "0000289910" "0" "90" "20" "10632809" "10632809" "subst" "0" "01943" "JAG1_000071" "g.10632809C>A" "" "" "" "JAG1(NM_000214.3):c.976G>T (p.E326*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10652161C>A" "" "pathogenic" "" "0000289911" "0" "50" "20" "10632791" "10632791" "subst" "1.21847E-5" "01943" "JAG1_000070" "g.10632791T>C" "" "" "" "JAG1(NM_000214.3):c.994A>G (p.N332D, p.(Asn332Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10652143T>C" "" "VUS" "" "0000328305" "0" "50" "20" "10620516" "10620516" "subst" "0" "01804" "JAG1_000010" "g.10620516C>T" "" "" "" "JAG1(NM_000214.2):c.3287G>A (p.(Arg1096Gln)), JAG1(NM_000214.3):c.3287G>A (p.R1096Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10639868C>T" "" "VUS" "" "0000328306" "0" "50" "20" "10621882" "10621882" "subst" "0" "01804" "JAG1_000014" "g.10621882G>C" "" "" "" "JAG1(NM_000214.2):c.2927C>G (p.(Thr976Arg)), JAG1(NM_000214.3):c.2927C>G (p.T976R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641234G>C" "" "VUS" "" "0000328307" "0" "30" "20" "10622214" "10622214" "subst" "0.00192595" "01804" "JAG1_000020" "g.10622214C>T" "" "" "" "JAG1(NM_000214.2):c.2810G>A (p.(Arg937Gln)), JAG1(NM_000214.3):c.2810G>A (p.R937Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10641566C>T" "" "likely benign" "" "0000328309" "0" "50" "20" "10632234" "10632234" "subst" "9.3585E-5" "01804" "JAG1_000069" "g.10632234G>A" "" "" "" "JAG1(NM_000214.2):c.1115C>T (p.(Ser372Phe)), JAG1(NM_000214.3):c.1115C>T (p.S372F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10651586G>A" "" "VUS" "" "0000328312" "0" "50" "20" "10653387" "10653387" "subst" "8.19659E-6" "01804" "JAG1_000097" "g.10653387G>C" "" "" "" "JAG1(NM_000214.2):c.349C>G (p.(Arg117Gly)), JAG1(NM_000214.3):c.349C>G (p.R117G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10672739G>C" "" "VUS" "" "0000344310" "0" "70" "20" "10639175" "10639175" "subst" "0" "02327" "JAG1_000106" "g.10639175C>T" "" "" "" "JAG1(NM_000214.3):c.635G>A (p.C212Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10658527C>T" "" "likely pathogenic" "" "0000348665" "0" "30" "20" "10620372" "10620372" "subst" "0" "02327" "JAG1_000104" "g.10620372G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10639724G>T" "" "likely benign" "" "0000470539" "0" "90" "20" "10628615" "10628615" "del" "0" "01807" "JAG1_000107" "g.10628615del" "" "" "" "1713delC" "" "Unknown" "" "" "0" "" "" "g.10647967del" "" "pathogenic" "" "0000484113" "0" "90" "20" "10654175" "10654176" "del" "0" "03298" "JAG1_000151" "g.10654175_10654176delinsAA" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10673527_10673528delinsAA" "" "pathogenic (dominant)" "" "0000484114" "0" "90" "20" "10654168" "10654168" "dup" "0" "03298" "JAG1_000150" "g.10654168dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10673520dup" "" "pathogenic (dominant)" "" "0000484115" "0" "90" "20" "10654129" "10654129" "subst" "0" "03298" "JAG1_000149" "g.10654129A>G" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10673481A>G" "" "pathogenic" "" "0000484116" "0" "90" "20" "10654106" "10654126" "del" "0" "03298" "JAG1_000143" "g.10654106_10654126del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10673458_10673478del" "" "pathogenic" "" "0000484117" "0" "90" "20" "10654120" "10654120" "subst" "0" "03298" "JAG1_000147" "g.10654120A>G" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "Unknown" "" "" "0" "" "" "g.10673472A>G" "" "pathogenic" "" "0000484118" "21" "70" "20" "10654120" "10654120" "subst" "0" "03298" "JAG1_000148" "g.10654120A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10673472A>C" "" "likely pathogenic" "" "0000484119" "21" "70" "20" "10654105" "10654116" "del" "0" "03298" "JAG1_000142" "g.10654105_10654116del" "" "{PMID:Warthen 2006:16575836}" "" "" "maternally-inherited" "Germline" "" "" "0" "" "" "g.10673457_10673468del" "" "pathogenic" "" "0000484120" "0" "70" "20" "10654115" "10654115" "subst" "0" "03298" "JAG1_000146" "g.10654115A>G" "" "{PMID:Lin 2012:22488849}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10673467A>G" "" "likely pathogenic (dominant)" "" "0000484121" "0" "90" "20" "10622214" "10622214" "subst" "0.00192595" "00006" "JAG1_000020" "g.10622214C>T" "" "{PMID:Bauer 2010:20437614}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641566C>T" "" "pathogenic (dominant)" "" "0000484122" "0" "90" "20" "10624421" "10624424" "del" "0" "00006" "JAG1_000271" "g.10624421_10624424del" "" "{PMID:Crosnier 1999:10220506}" "" "2871+2delTAAG" "" "De novo" "" "" "0" "" "" "g.10643773_10643776del" "" "pathogenic (dominant)" "" "0000484123" "0" "90" "20" "10654097" "10654097" "subst" "0" "03298" "JAG1_000141" "g.10654097C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10673449C>T" "" "pathogenic" "" "0000484125" "0" "90" "20" "10653639" "10653639" "subst" "0" "03298" "JAG1_000140" "g.10653639C>G" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10672991C>G" "" "pathogenic" "" "0000484175" "11" "90" "20" "10624421" "10624424" "del" "0" "03298" "JAG1_000271" "g.10624421_10624424del" "" "{PMID:Crosnier 1999:10220506}" "" "2871+2delTAAG" "" "Germline" "" "" "0" "" "" "g.10643773_10643776del" "" "pathogenic (dominant)" "" "0000484179" "0" "90" "20" "10653633" "10653636" "del" "0" "03298" "JAG1_000136" "g.10653633_10653636del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10672985_10672988del" "" "pathogenic" "" "0000484180" "0" "70" "20" "10653632" "10653632" "subst" "0" "03298" "JAG1_000135" "g.10653632A>G" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "maternally-inherited" "Germline" "" "" "0" "" "" "g.10672984A>G" "" "likely pathogenic" "" "0000484182" "0" "90" "20" "10637098" "10637098" "subst" "0" "03298" "JAG1_000081" "g.10637098G>A" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic (dominant)" "" "0000484183" "0" "90" "20" "10644600" "10644613" "del" "0" "03298" "JAG1_000735" "g.10644600_10644613del" "" "{PMID:Colliton 2001:11180599}" "" "437del14" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10663952_10663965del" "" "pathogenic (dominant)" "" "0000484186" "0" "90" "20" "10653594" "10653595" "del" "0" "03298" "JAG1_000132" "g.10653594_10653595del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10672946_10672947del" "" "pathogenic" "" "0000484187" "0" "90" "20" "10644660" "10644680" "del" "0" "03298" "JAG1_000108" "g.10644660_10644680del" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10664012_10664032del" "" "pathogenic (dominant)" "" "0000484191" "0" "90" "20" "10653574" "10653575" "del" "0" "03298" "JAG1_000129" "g.10653574_10653575delinsTT" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672926_10672927delinsTT" "" "pathogenic (dominant)" "" "0000484200" "0" "90" "20" "10653548" "10653549" "del" "0" "03298" "JAG1_000127" "g.10653548_10653549del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10672900_10672901del" "" "pathogenic" "" "0000484201" "0" "90" "20" "10644610" "10644610" "subst" "0" "03298" "JAG1_000092" "g.10644610C>T" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10663962C>T" "" "pathogenic (dominant)" "" "0000484202" "11" "70" "20" "10653515" "10653515" "subst" "0" "03298" "JAG1_000126" "g.10653515T>C" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "Variant is also present in the affected paternal grandmother." "Germline" "" "" "0" "" "" "g.10672867T>C" "" "VUS" "" "0000484203" "0" "90" "20" "10653504" "10653504" "subst" "0" "03298" "JAG1_000123" "g.10653504A>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10672856A>T" "" "pathogenic" "" "0000484205" "0" "70" "20" "10653504" "10653504" "subst" "0" "03298" "JAG1_000124" "g.10653504A>C" "" "{PMID:Lin 2012:22488849}" "" "" "" "De novo" "" "" "0" "" "" "g.10672856A>C" "" "likely pathogenic (dominant)" "" "0000484206" "0" "90" "20" "10653499" "10653499" "dup" "0" "03298" "JAG1_000122" "g.10653499dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10672851dup" "" "pathogenic" "" "0000484215" "21" "90" "20" "10653466" "10653466" "dup" "0" "03298" "JAG1_000120" "g.10653466dup" "" "{PMID:Krantz 1998:9585603}, {PMID:Krantz 1999:10213047}" "" "684insG" "" "Germline" "" "" "0" "" "" "g.10672818dup" "" "pathogenic" "" "0000484221" "21" "70" "20" "10653453" "10653453" "subst" "0" "03298" "JAG1_000116" "g.10653453C>G" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "Variant also present in an affected sibling." "Germline" "" "" "0" "" "" "g.10672805C>G" "" "VUS" "" "0000484233" "0" "90" "20" "10653425" "10653425" "dup" "0" "03298" "JAG1_000112" "g.10653425dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672777dup" "" "pathogenic" "" "0000484234" "0" "90" "20" "10653400" "10653400" "dup" "0" "03298" "JAG1_000111" "g.10653400dup" "" "{PMID:Lin 2012:22488849}" "" "338insC" "" "De novo" "" "" "0" "" "" "g.10672752dup" "" "pathogenic (dominant)" "" "0000484235" "0" "90" "20" "10653348" "10653348" "subst" "0" "03298" "JAG1_000110" "g.10653348C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10672700C>T" "" "pathogenic" "" "0000484237" "0" "70" "20" "10644659" "10644679" "del" "0" "03298" "JAG1_000108" "g.10644659_10644679del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "predicted to splice out exon 3, unconfirmed by cDNA" "Unknown" "" "" "0" "" "" "g.10664011_10664031del" "" "likely pathogenic" "" "0000484238" "0" "90" "20" "10644663" "10644663" "subst" "0" "03298" "JAG1_000109" "g.10644663C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10664015C>G" "" "pathogenic (dominant)" "" "0000484395" "0" "10" "20" "10653631" "10653631" "subst" "3.71796E-5" "00006" "JAG1_000636" "g.10653631G>A" "" "{PMID:Crosnier 1999:10220506}" "" "518C/T" "" "Germline" "" "" "0" "" "" "g.10672983G>A" "" "benign" "" "0000484396" "0" "70" "20" "10629709" "10629709" "subst" "0" "00006" "JAG1_000154" "g.10629709C>A" "" "{PMID:Oda 1997:9207787}" "" "" "" "Germline" "" "" "0" "" "" "g.10649061C>A" "" "likely pathogenic (dominant)" "" "0000484397" "0" "10" "20" "10653442" "10653442" "subst" "0.00331706" "00006" "JAG1_000099" "g.10653442G>A" "" "{PMID:Oda 1997:9207787}" "" "707C/T" "" "Germline" "" "" "0" "" "" "g.10672794G>A" "" "benign" "" "0000484398" "0" "90" "20" "10629271" "10629274" "del" "0" "00006" "JAG1_000156" "g.10629271_10629274del" "" "{PMID:Oda 1997:9207787}" "" "1950del4" "" "Germline" "" "" "0" "" "" "g.10648623_10648626del" "" "pathogenic (dominant)" "" "0000484399" "0" "10" "20" "10653466" "10653466" "subst" "0.00609995" "00006" "JAG1_000100" "g.10653466C>A" "" "{PMID:Crosnier 1999:10220506}" "" "683G/T" "" "Germline" "" "" "0" "" "" "g.10672818C>A" "" "benign" "" "0000484400" "0" "10" "20" "10653469" "10653469" "subst" "0.096008" "00006" "JAG1_000101" "g.10653469C>T" "" "{PMID:Crosnier 1999:10220506}" "" "680G/A" "" "Germline" "" "" "0" "" "" "g.10672821C>T" "" "benign" "" "0000484401" "0" "10" "20" "10637057" "10637057" "subst" "0.0726782" "00006" "JAG1_000079" "g.10637057T>C" "" "{PMID:Crosnier 1999:10220506}" "" "1157A/G" "" "Germline" "" "" "0" "" "" "g.10656409T>C" "" "benign" "" "0000484402" "0" "10" "20" "10633237" "10633237" "subst" "0.456237" "00006" "JAG1_000078" "g.10633237G>A" "" "{PMID:Crosnier 1999:10220506}" "" "1178T/C" "" "Germline" "" "" "0" "" "" "g.10652589G>A" "" "benign" "" "0000484403" "0" "90" "20" "10622330" "10622334" "dup" "0" "00006" "JAG1_000160" "g.10622330_10622334dup" "" "{PMID:Li 1997:9207788}" "" "3102insGTGGC" "" "Germline" "" "" "0" "" "" "g.10641682_10641686dup" "" "pathogenic (dominant)" "" "0000484404" "0" "10" "20" "10639222" "10639222" "subst" "0.10558" "00006" "JAG1_000085" "g.10639222G>A" "" "{PMID:Crosnier 1999:10220506}" "" "1001C/T" "" "Germline" "" "" "0" "" "" "g.10658574G>A" "" "benign" "" "0000484405" "0" "10" "20" "10632843" "10632843" "subst" "0" "00006" "JAG1_000637" "g.10632843G>A" "" "{PMID:Crosnier 1999:10220506}" "" "1337C/T" "" "Germline" "" "" "0" "" "" "g.10652195G>A" "" "benign" "" "0000484406" "0" "10" "20" "10629715" "10629715" "subst" "0.000479242" "00006" "JAG1_000638" "g.10629715G>A" "" "{PMID:Crosnier 1999:10220506}" "" "1802C>T" "" "Germline" "" "" "0" "" "" "g.10649067G>A" "" "benign" "" "0000484407" "0" "10" "20" "10625804" "10625804" "subst" "0.111844" "00006" "JAG1_000460" "g.10625804T>G" "" "{PMID:Krantz 1998:9585603}" "" "2627A/C" "" "Germline" "" "" "0" "" "" "g.10645156T>G" "" "benign" "" "0000484408" "0" "10" "20" "10620275" "10620275" "subst" "0.242743" "00006" "JAG1_000002" "g.10620275G>A" "" "{PMID:Krantz 1998:9585603}" "" "3941T>C" "" "Germline" "" "" "0" "" "" "g.10639627G>A" "" "benign" "" "0000484409" "0" "50" "20" "10639222" "10639222" "subst" "0.10558" "00006" "JAG1_000085" "g.10639222G>A" "" "{PMID:Krantz 1998:9585603}" "" "1001C/T" "" "Germline" "" "" "0" "" "" "g.10658574G>A" "" "benign" "" "0000484410" "0" "10" "20" "10628750" "10628750" "subst" "0.00129185" "00006" "JAG1_000057" "g.10628750G>A" "" "{PMID:Krantz 1998:9585603}" "" "1991C/T" "" "Germline" "" "" "0" "" "" "g.10648102G>A" "" "benign" "" "0000484411" "0" "10" "20" "10624502" "10624502" "subst" "0.0222216" "00006" "JAG1_000037" "g.10624502G>A" "" "{PMID:Krantz 1998:9585603}" "" "2785C/T" "" "Germline" "" "" "0" "" "" "g.10643854G>A" "" "benign" "" "0000484412" "0" "90" "20" "10622435" "10622435" "subst" "0" "00006" "JAG1_000165" "g.10622435G>C" "" "{PMID:Krantz 1998:9585603}" "" "S888X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641787G>C" "" "pathogenic" "" "0000484413" "0" "10" "20" "10620386" "10620386" "subst" "0.651153" "00006" "JAG1_000007" "g.10620386A>G" "" "{PMID:Krantz 1998:9585603}" "" "3830C/T" "" "Germline" "" "" "0" "" "" "g.10639738A>G" "" "benign" "" "0000484414" "0" "10" "20" "10625804" "10625804" "subst" "0.111844" "00006" "JAG1_000460" "g.10625804T>G" "" "{PMID:Crosnier 1999:10220506}" "" "2627A/C" "" "Germline" "" "" "0" "" "" "g.10645156T>G" "" "benign" "" "0000484415" "0" "10" "20" "10622501" "10622501" "subst" "0.0640936" "00006" "JAG1_000028" "g.10622501G>C" "" "{PMID:Crosnier 1999:10220506}" "" "3025C/G" "" "Germline" "" "" "0" "" "" "g.10641853G>C" "" "benign" "" "0000484416" "0" "10" "20" "10624502" "10624502" "subst" "0.0222216" "00006" "JAG1_000037" "g.10624502G>A" "" "{PMID:Crosnier 1999:10220506}" "" "2795C/T" "" "Germline" "" "" "0" "" "" "g.10643854G>A" "" "benign" "" "0000484417" "0" "10" "20" "10625624" "10625624" "subst" "0.000921812" "00006" "JAG1_000458" "g.10625624C>T" "" "{PMID:Crosnier 1999:10220506}" "" "2644G/A" "" "Germline" "" "" "0" "" "" "g.10644976C>T" "" "benign" "" "0000484418" "0" "90" "20" "10621803" "10621806" "del" "0" "00006" "JAG1_000223" "g.10621803_10621806del" "" "{PMID:Ropke 2003:12497640}" "" "3416-3419delTTGC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641155_10641158del" "" "pathogenic (dominant)" "" "0000484419" "0" "10" "20" "10620386" "10620386" "subst" "0.651153" "00006" "JAG1_000007" "g.10620386A>G" "" "{PMID:Crosnier 1999:10220506}" "" "3830C/T" "" "Germline" "" "" "0" "" "" "g.10639738A>G" "" "benign" "" "0000484420" "0" "90" "20" "10622463" "10622463" "subst" "0" "00006" "JAG1_000263" "g.10622463G>A" "" "{PMID:Liu 2007:17241866}" "" "C2650T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641815G>A" "" "pathogenic (dominant)" "" "0000484421" "0" "50" "20" "10622501" "10622501" "subst" "0.0640936" "00006" "JAG1_000028" "g.10622501G>C" "" "{PMID:Krantz 1998:9585603}" "" "3024C>T (P866R)" "" "Germline" "" "" "0" "" "" "g.10641853G>C" "" "VUS" "" "0000484422" "0" "90" "20" "10625004" "10625004" "subst" "0" "00006" "JAG1_000642" "g.10625004C>T" "" "{PMID:Liu 2007:17241866}" "" "IVS19+1G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644356C>T" "" "pathogenic (dominant)" "" "0000484423" "0" "10" "20" "10622258" "10622258" "subst" "0.00413106" "00006" "JAG1_000022" "g.10622258G>A" "" "{PMID:Crosnier 1999:10220506}" "" "3179C/T" "" "Germline" "" "" "0" "" "" "g.10641610G>A" "" "benign" "" "0000484424" "0" "90" "20" "10633114" "10633114" "subst" "0" "00006" "JAG1_000155" "g.10633114A>C" "" "{PMID:Kamath 2002:12244555}" "" "1329+2T >G" "" "De novo" "" "" "0" "" "" "g.10652466A>C" "" "pathogenic (dominant)" "" "0000484425" "0" "90" "20" "10622463" "10622463" "subst" "0" "00006" "JAG1_000263" "g.10622463G>A" "" "{PMID:Liu 2007:17241866}" "" "C2650T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641815G>A" "" "pathogenic (dominant)" "" "0000484426" "0" "10" "20" "10620275" "10620275" "subst" "0.242743" "00006" "JAG1_000002" "g.10620275G>A" "" "{PMID:Crosnier 1999:10220506}" "" "3941T/C" "" "Germline" "" "" "0" "" "" "g.10639627G>A" "" "benign" "" "0000484427" "0" "90" "20" "10625625" "10625625" "subst" "0" "00006" "JAG1_000041" "g.10625625G>A" "" "{PMID:Liu 2007:17241866}" "" "C2230T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic (dominant)" "" "0000484428" "0" "90" "20" "10629280" "10629281" "del" "0" "00006" "JAG1_000060" "g.10629280_10629281del" "" "{PMID:Raas-Rothschild 2002:12239725}" "" "1485delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648632_10648633del" "" "pathogenic (dominant)" "" "0000484429" "11" "90" "20" "10629706" "10629706" "subst" "0" "00006" "JAG1_000645" "g.10629706T>C" "" "{PMID:Pilia 1999:10533065}" "" "1808+3A>G" "" "Germline" "" "" "0" "" "" "g.10649058T>C" "" "pathogenic (dominant)" "" "0000484430" "0" "90" "20" "10625625" "10625625" "subst" "0" "00006" "JAG1_000041" "g.10625625G>A" "" "{PMID:Onouchi 1999:10429362}" "" "" "" "Germline" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic (dominant)" "" "0000484431" "0" "90" "20" "10637108" "10637108" "subst" "0" "00006" "JAG1_000186" "g.10637108T>C" "" "{PMID:Yuan 1998:9700188}" "" "1154-2A>G" "" "De novo" "" "" "0" "" "" "g.10656460T>C" "" "pathogenic" "" "0000484432" "11" "90" "20" "10622504" "10622504" "dup" "0" "00006" "JAG1_000185" "g.10622504dup" "" "{PMID:Yuan 1998:9700188}" "" "3067insT" "" "Germline" "" "" "0" "" "" "g.10641856dup" "" "pathogenic" "" "0000484433" "21" "90" "20" "10621773" "10621774" "dup" "0" "00006" "JAG1_000184" "g.10621773_10621774dup" "" "{PMID:Yuan 1998:9700188}" "" "3495insTA" "" "Germline" "" "" "0" "" "" "g.10641125_10641126dup" "" "pathogenic" "" "0000484434" "0" "90" "20" "10630923" "10630923" "dup" "0" "00006" "JAG1_000182" "g.10630923dup" "" "{PMID:Yuan 1998:9700188}" "" "1665insA" "" "Germline" "" "" "0" "" "" "g.10650275dup" "" "pathogenic" "" "0000484435" "11" "90" "20" "10620578" "10620579" "del" "0" "00006" "JAG1_000183" "g.10620578_10620579del" "" "{PMID:Yuan 1998:9700188}" "" "3683delCT" "" "Germline" "" "" "0" "" "" "g.10639930_10639931del" "" "pathogenic" "" "0000484436" "0" "90" "20" "10633237" "10633237" "subst" "0" "00006" "JAG1_000191" "g.10633237G>T" "" "{PMID:Crosnier 1999:10220506}" "" "1178T>A" "" "Germline/De novo (untested)" "" "rs1131695" "0" "" "" "g.10652589G>T" "" "pathogenic" "" "0000484437" "0" "90" "20" "10629372" "10629379" "del" "0" "00006" "JAG1_000337" "g.10629372_10629379del" "" "{PMID:Crosnier 1999:10220506}" "" "1809-9delCTCTTCTA" "" "De novo" "" "" "0" "" "" "g.10648724_10648731del" "" "pathogenic" "" "0000484438" "0" "90" "20" "10626007" "10626007" "del" "0" "00006" "JAG1_000293" "g.10626007del" "" "{PMID:Crosnier 1999:10220506}" "" "2523delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645359del" "" "pathogenic" "" "0000484439" "0" "90" "20" "10633245" "10633245" "dup" "0" "00006" "JAG1_000387" "g.10633245dup" "" "{PMID:Crosnier 1999:10220506}" "" "1170-1171insT" "" "De novo" "" "" "0" "" "" "g.10652597dup" "" "pathogenic" "" "0000484440" "0" "90" "20" "10621789" "10621808" "del" "0" "00006" "JAG1_000217" "g.10621789_10621808del" "" "{PMID:Crosnier 1999:10220506}" "" "3414-3433del20" "" "De novo" "" "" "0" "" "" "g.10641141_10641160del" "" "pathogenic" "" "0000484441" "0" "90" "20" "10628614" "10628615" "del" "0" "00006" "JAG1_000321" "g.10628614_10628615del" "" "{PMID:Crosnier 1999:10220506}" "" "2126-2127delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10647966_10647967del" "" "pathogenic" "" "0000484442" "0" "90" "20" "10621463" "10621466" "del" "0" "00006" "JAG1_000203" "g.10621463_10621466del" "" "{PMID:Crosnier 1999:10220506}" "" "3574–3577delAAGT" "" "De novo" "" "" "0" "" "" "g.10640815_10640818del" "" "pathogenic" "" "0000484443" "0" "90" "20" "10624999" "10625002" "del" "0" "00006" "JAG1_000276" "g.10624999_10625002del" "" "{PMID:Crosnier 1999:10220506}" "" "2785 +3delAAGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644351_10644354del" "" "pathogenic" "" "0000484444" "0" "90" "20" "10621793" "10621797" "dup" "0" "00006" "JAG1_000218" "g.10621793_10621797dup" "" "{PMID:Crosnier 1999:10220506}" "" "3429–3430insTTCCC" "" "De novo" "" "" "0" "" "" "g.10641145_10641149dup" "" "pathogenic" "" "0000484445" "0" "90" "20" "10625844" "10625844" "dup" "0" "00006" "JAG1_000287" "g.10625844dup" "" "{PMID:Crosnier 1999:10220506}" "" "2587-2588insA" "" "De novo" "" "" "0" "" "" "g.10645196dup" "" "pathogenic" "" "0000484446" "0" "90" "20" "10654138" "10654138" "del" "0" "00006" "JAG1_000446" "g.10654138del" "" "{PMID:Crosnier 1999:10220506}" "" "454delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10673490del" "" "pathogenic" "" "0000484447" "0" "90" "20" "10621782" "10621782" "del" "0" "00006" "JAG1_000214" "g.10621782del" "" "{PMID:Crosnier 1999:10220506}" "" "3440delC" "" "De novo" "" "" "0" "" "" "g.10641134del" "" "pathogenic" "" "0000484448" "0" "90" "20" "10629306" "10629307" "del" "0" "00006" "JAG1_000061" "g.10629306_10629307del" "" "{PMID:Crosnier 1999:10220506}" "" "1872-1873delGA" "" "De novo" "" "" "0" "" "" "g.10648658_10648659del" "" "pathogenic" "" "0000484449" "0" "90" "20" "10630917" "10630917" "del" "0" "00006" "JAG1_000346" "g.10630917del" "" "{PMID:Crosnier 1999:10220506}" "" "1625delG" "" "Germline" "" "" "0" "" "" "g.10650269del" "" "pathogenic" "" "0000484450" "0" "90" "20" "10626078" "10626078" "dup" "0" "00006" "JAG1_000302" "g.10626078dup" "" "{PMID:Crosnier 1999:10220506}" "" "2452-2453insG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645430dup" "" "pathogenic" "" "0000484451" "0" "90" "20" "10632804" "10632804" "dup" "0" "00006" "JAG1_000363" "g.10632804dup" "" "{PMID:Crosnier 1999:10220506}" "" "1394-1395insG" "" "Germline" "" "" "0" "" "" "g.10652156dup" "" "pathogenic" "" "0000484452" "0" "90" "20" "10626620" "10626620" "dup" "0" "00006" "JAG1_000304" "g.10626620dup" "" "{PMID:Crosnier 1999:10220506}" "" "2411-2412insC" "" "Germline" "" "" "0" "" "" "g.10645972dup" "" "pathogenic" "" "0000484453" "0" "90" "20" "10629280" "10629281" "del" "0" "00006" "JAG1_000060" "g.10629280_10629281del" "" "{PMID:Crosnier 1999:10220506}" "" "1898-1899delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648632_10648633del" "" "pathogenic" "" "0000484454" "0" "90" "20" "10621434" "10621434" "dup" "0" "00006" "JAG1_000202" "g.10621434dup" "" "{PMID:Crosnier 1999:10220506}" "" "3609–3610insA" "" "De novo" "" "" "0" "" "" "g.10640786dup" "" "pathogenic" "" "0000484455" "0" "90" "20" "10629303" "10629303" "del" "0" "00006" "JAG1_000335" "g.10629303del" "" "{PMID:Crosnier 1999:10220506}" "" "1876delT" "" "De novo" "" "" "0" "" "" "g.10648655del" "" "pathogenic" "" "0000484456" "0" "90" "20" "10624421" "10624424" "del" "0" "00006" "JAG1_000271" "g.10624421_10624424del" "" "{PMID:Crosnier 1999:10220506}" "" "2871 +2delTAAG" "" "De novo" "" "" "0" "" "" "g.10643773_10643776del" "" "pathogenic" "" "0000484457" "0" "90" "20" "10631007" "10631008" "ins" "0" "00006" "JAG1_000354" "g.10631007_10631008insA" "" "{PMID:Crosnier 1999:10220506}" "" "1534-1535insT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10650359_10650360insA" "" "pathogenic" "" "0000484458" "0" "90" "20" "10621883" "10621883" "dup" "0" "00006" "JAG1_000230" "g.10621883dup" "" "{PMID:Crosnier 1999:10220506}" "" "3339–3340insA" "" "Germline" "" "" "0" "" "" "g.10641235dup" "" "pathogenic" "" "0000484459" "0" "90" "20" "10653590" "10653590" "del" "0" "00006" "JAG1_000435" "g.10653590del" "" "{PMID:Crosnier 1999:10220506}" "" "559delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672942del" "" "pathogenic" "" "0000484460" "0" "90" "20" "10622207" "10622214" "dup" "0" "00006" "JAG1_000243" "g.10622207_10622214dup" "" "{PMID:Crosnier 1999:10220506}" "" "3230–3231insGGTCTTCC" "" "De novo" "" "" "0" "" "" "g.10641559_10641566dup" "" "pathogenic" "" "0000484461" "0" "90" "20" "10626044" "10626044" "dup" "0" "00006" "JAG1_000299" "g.10626044dup" "" "{PMID:Crosnier 1999:10220506}" "" "2486-2487insT" "" "Germline" "" "" "0" "" "" "g.10645396dup" "" "pathogenic" "" "0000484462" "0" "90" "20" "10626718" "10626719" "del" "0" "00006" "JAG1_000051" "g.10626718_10626719del" "" "{PMID:Crosnier 1999:10220506}" "" "2312-2313delTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10646070_10646071del" "" "pathogenic" "" "0000484463" "0" "90" "20" "10627662" "10627663" "dup" "0" "00006" "JAG1_000313" "g.10627662_10627663dup" "" "{PMID:Crosnier 1999:10220506}" "" "2223-2224insGA" "" "Germline" "" "" "0" "" "" "g.10647014_10647015dup" "" "pathogenic" "" "0000484464" "0" "90" "20" "10639125" "10639125" "subst" "0" "00006" "JAG1_000394" "g.10639125A>C" "" "{PMID:Crosnier 1999:10220506}" "" "1098T>G" "" "De novo" "" "" "0" "" "" "g.10658477A>C" "" "pathogenic" "" "0000484465" "0" "90" "20" "10630961" "10630961" "subst" "0" "00006" "JAG1_000350" "g.10630961G>A" "" "{PMID:Crosnier 1999:10220506}" "" "1581C>T" "" "Germline" "" "" "0" "" "" "g.10650313G>A" "" "pathogenic" "" "0000484466" "0" "90" "20" "10639322" "10639322" "subst" "0" "00006" "JAG1_000410" "g.10639322G>A" "" "{PMID:Crosnier 1999:10220506}" "" "901C>T" "" "De novo" "" "" "0" "" "" "g.10658674G>A" "" "pathogenic" "" "0000484467" "0" "90" "20" "10653350" "10653350" "subst" "0" "00006" "JAG1_000418" "g.10653350G>C" "" "{PMID:Crosnier 1999:10220506}" "" "799C>G" "" "Germline" "" "" "0" "" "" "g.10672702G>C" "" "pathogenic" "" "0000484468" "0" "90" "20" "10639260" "10639260" "subst" "0" "00006" "JAG1_000404" "g.10639260G>C" "" "{PMID:Crosnier 1999:10220506}" "" "963C>G" "" "Germline" "" "" "0" "" "" "g.10658612G>C" "" "pathogenic" "" "0000484469" "0" "90" "20" "10621802" "10621802" "subst" "0" "00006" "JAG1_000220" "g.10621802C>A" "" "{PMID:Crosnier 1999:10220506}" "" "3420G>T" "" "De novo" "" "" "0" "" "" "g.10641154C>A" "" "pathogenic" "" "0000484470" "0" "90" "20" "10653357" "10653357" "subst" "0" "00006" "JAG1_000420" "g.10653357C>T" "" "{PMID:Crosnier 1999:10220506}" "" "792G>A" "" "Germline" "" "" "0" "" "" "g.10672709C>T" "" "pathogenic" "" "0000484471" "0" "90" "20" "10653500" "10653500" "subst" "0" "00006" "JAG1_000427" "g.10653500A>T" "" "{PMID:Crosnier 1999:10220506}" "" "649T>A" "" "Germline" "" "" "0" "" "" "g.10672852A>T" "" "pathogenic" "" "0000484472" "0" "90" "20" "10625800" "10625800" "subst" "0" "00006" "JAG1_000284" "g.10625800A>G" "" "{PMID:Crosnier 1999:10220506}" "" "2631T>C" "" "De novo" "" "" "0" "" "" "g.10645152A>G" "" "pathogenic" "" "0000484473" "0" "90" "20" "10633230" "10633230" "subst" "0" "00006" "JAG1_000382" "g.10633230G>A" "" "{PMID:Crosnier 1999:10220506}" "" "1185C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652582G>A" "" "pathogenic" "" "0000484474" "0" "90" "20" "10639314" "10639314" "subst" "0" "00006" "JAG1_000409" "g.10639314G>A" "" "{PMID:Crosnier 1999:10220506}" "" "909C>T" "" "De novo" "" "" "0" "" "" "g.10658666G>A" "" "pathogenic" "" "0000484475" "0" "90" "20" "10654106" "10654106" "subst" "0" "00006" "JAG1_000445" "g.10654106G>A" "" "{PMID:Crosnier 1999:10220506}" "" "486C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10673458G>A" "" "pathogenic" "" "0000484476" "0" "90" "20" "10625827" "10625827" "subst" "0" "00006" "JAG1_000286" "g.10625827A>T" "" "{PMID:Crosnier 1999:10220506}" "" "2604T>A" "" "Germline" "" "" "0" "" "" "g.10645179A>T" "" "pathogenic" "" "0000484477" "0" "90" "20" "10639237" "10639237" "subst" "0" "00006" "JAG1_000400" "g.10639237G>C" "" "{PMID:Crosnier 1999:10220506}" "" "986C>G" "" "De novo" "" "" "0" "" "" "g.10658589G>C" "" "pathogenic" "" "0000484478" "0" "90" "20" "10627597" "10627597" "subst" "0" "00006" "JAG1_000311" "g.10627597G>C" "" "{PMID:Crosnier 1999:10220506}" "" "2288C>G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10646949G>C" "" "pathogenic" "" "0000484479" "0" "90" "20" "10626006" "10626006" "subst" "0" "00006" "JAG1_000292" "g.10626006G>C" "" "{PMID:Crosnier 1999:10220506}" "" "2524C>G" "" "De novo" "" "" "0" "" "" "g.10645358G>C" "" "pathogenic" "" "0000484480" "0" "90" "20" "10622326" "10622326" "subst" "0" "00006" "JAG1_000024" "g.10622326G>A" "" "{PMID:Crosnier 1999:10220506}" "" "3111C>T" "" "De novo" "" "" "0" "" "" "g.10641678G>A" "" "pathogenic" "" "0000484481" "0" "90" "20" "10621803" "10621803" "subst" "0" "00006" "JAG1_000222" "g.10621803G>T" "" "{PMID:Crosnier 1999:10220506}" "" "3419C>A" "" "Germline" "" "" "0" "" "" "g.10641155G>T" "" "pathogenic" "" "0000484482" "0" "90" "20" "10633138" "10633138" "subst" "0" "00006" "JAG1_000372" "g.10633138C>G" "" "{PMID:Crosnier 1999:10220506}" "" "1277G>C" "" "Germline" "" "" "0" "" "" "g.10652490C>G" "" "pathogenic" "" "0000484483" "0" "90" "20" "10639250" "10639250" "subst" "0" "00006" "JAG1_000401" "g.10639250C>G" "" "{PMID:Crosnier 1999:10220506}" "" "973G>C" "" "De novo" "" "" "0" "" "" "g.10658602C>G" "" "pathogenic" "" "0000484484" "0" "90" "20" "10633151" "10633151" "subst" "0" "00006" "JAG1_000374" "g.10633151C>A" "" "{PMID:Crosnier 1999:10220506}" "" "1264G>T" "" "Germline" "" "" "0" "" "" "g.10652503C>A" "" "pathogenic" "" "0000484485" "0" "90" "20" "10630205" "10630205" "subst" "0" "00006" "JAG1_000342" "g.10630205C>A" "" "{PMID:Crosnier 1999:10220506}" "" "1726G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10649557C>A" "" "pathogenic" "" "0000484486" "0" "90" "20" "10653353" "10653353" "subst" "0" "00006" "JAG1_000419" "g.10653353C>T" "" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "De novo" "" "" "0" "" "" "g.10672705C>T" "" "pathogenic (dominant)" "" "0000484487" "0" "90" "20" "10639314" "10639314" "subst" "0" "00006" "JAG1_000409" "g.10639314G>A" "" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "De novo" "" "" "0" "" "" "g.10658666G>A" "" "pathogenic (dominant)" "" "0000484488" "0" "90" "20" "10626023" "10626023" "del" "0" "00006" "JAG1_000296" "g.10626023del" "" "{PMID:Onouchi 1999:10429362}" "" "2094delA" "" "Germline" "" "" "0" "" "" "g.10645375del" "" "pathogenic (dominant)" "" "0000484489" "0" "90" "20" "10626014" "10626014" "del" "0" "00006" "JAG1_000295" "g.10626014del" "" "{PMID:Onouchi 1999:10429362}" "" "2103delC" "" "De novo" "" "" "0" "" "" "g.10645366del" "" "pathogenic (dominant)" "" "0000484490" "0" "90" "20" "10639114" "10639114" "subst" "0" "00006" "JAG1_000646" "g.10639114A>T" "" "{PMID:Onouchi 1999:10429362}" "" "IVS4+2T>A" "" "Germline" "" "" "0" "" "" "g.10658466A>T" "" "pathogenic (dominant)" "" "0000484491" "0" "90" "20" "10637046" "10637046" "subst" "0" "00006" "JAG1_000647" "g.10637046C>T" "" "{PMID:Onouchi 1999:10429362}" "" "" "" "Germline" "" "" "0" "" "" "g.10656398C>T" "" "pathogenic (dominant)" "" "0000484492" "0" "90" "20" "10633149" "10633150" "del" "0" "00006" "JAG1_000373" "g.10633149_10633150del" "" "{PMID:Pilia 1999:10533065}" "" "1263–1264delTG" "" "De novo" "" "" "0" "" "" "g.10652501_10652502del" "" "pathogenic (dominant)" "" "0000484493" "0" "90" "20" "10622298" "10622299" "ins" "0" "00006" "JAG1_000254" "g.10622298_10622299insG" "" "{PMID:Pilia 1999:10533065}" "" "3138–3139insC" "" "De novo" "" "" "0" "" "" "g.10641650_10641651insG" "" "pathogenic (dominant)" "" "0000484494" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Pilia 1999:10533065}" "" "2535–2538delCAGT" "" "De novo" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000484495" "0" "90" "20" "10621558" "10621559" "ins" "0" "00006" "JAG1_000211" "g.10621558_10621559insTATATCT" "" "{PMID:Pilia 1999:10533065}" "" "3483–3484insAGATATA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10640910_10640911insTATATCT" "" "pathogenic (dominant)" "" "0000484496" "0" "90" "20" "10630994" "10630994" "dup" "0" "00006" "JAG1_000352" "g.10630994dup" "" "{PMID:Pilia 1999:10533065}" "" "1548–1549insT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10650346dup" "" "pathogenic (dominant)" "" "0000484497" "0" "90" "20" "10639355" "10639355" "subst" "0" "00006" "JAG1_000415" "g.10639355A>G" "" "{PMID:Pilia 1999:10533065}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658707A>G" "" "pathogenic (dominant)" "" "0000484498" "0" "90" "20" "10639259" "10639259" "subst" "0" "00006" "JAG1_000403" "g.10639259C>A" "" "{PMID:Pilia 1999:10533065}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658611C>A" "" "pathogenic (dominant)" "" "0000484499" "0" "90" "20" "10623182" "10623182" "subst" "0" "00006" "JAG1_000268" "g.10623182G>T" "" "{PMID:Pilia 1999:10533065}" "" "2939C>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10642534G>T" "" "pathogenic (dominant)" "" "0000484500" "11" "90" "20" "10632340" "10632340" "subst" "0" "00006" "JAG1_000360" "g.10632340C>A" "" "{PMID:Pilia 1999:10533065}" "" "1422G>T" "" "Germline" "" "" "0" "" "" "g.10651692C>A" "" "pathogenic (dominant)" "" "0000484501" "0" "90" "20" "10625814" "10625814" "subst" "0" "00006" "JAG1_000285" "g.10625814C>T" "" "{PMID:Pilia 1999:10533065}" "" "2617T>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645166C>T" "" "pathogenic (dominant)" "" "0000484502" "0" "90" "20" "10625845" "10625845" "dup" "0" "00006" "JAG1_000175" "g.10625845dup" "" "{PMID:Pilia 1999:10533065}" "" "2586–2587insG" "" "De novo" "" "" "0" "" "" "g.10645197dup" "" "pathogenic (dominant)" "" "0000484503" "0" "90" "20" "10623250" "10623250" "subst" "0" "00006" "JAG1_000644" "g.10623250C>G" "" "{PMID:Pilia 1999:10533065}" "" "2872-1G>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10642602C>G" "" "pathogenic" "" "0000484504" "0" "90" "20" "10639341" "10639342" "dup" "0" "00006" "JAG1_000413" "g.10639341_10639342dup" "" "{PMID:Heritage 2000:11058898}" "" "882insCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658693_10658694dup" "" "pathogenic (dominant)" "" "0000484505" "0" "90" "20" "10654095" "10654106" "del" "0" "00006" "JAG1_000443" "g.10654095_10654106del" "" "{PMID:Heritage 2000:11058898}" "" "486del12" "" "De novo" "" "" "0" "" "" "g.10673447_10673458del" "" "pathogenic" "" "0000484506" "0" "90" "20" "10629697" "10629704" "del" "0" "00006" "JAG1_000338" "g.10629697_10629704del" "" "{PMID:Heritage 2000:11058898}" "" "1808+4del8" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10649049_10649056del" "" "pathogenic" "" "0000484507" "0" "90" "20" "10630961" "10630961" "dup" "0" "00006" "JAG1_000351" "g.10630961dup" "" "{PMID:Heritage 2000:11058898}" "" "1582insC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10650313dup" "" "pathogenic (dominant)" "" "0000484508" "0" "90" "20" "10630973" "10630973" "subst" "0" "00006" "JAG1_000067" "g.10630973C>T" "" "{PMID:Heritage 2000:11058898}" "" "G386R" "" "De novo" "" "" "0" "" "" "g.10650325C>T" "" "pathogenic (dominant)" "" "0000484509" "0" "90" "20" "10622336" "10622336" "subst" "0" "00006" "JAG1_000258" "g.10622336C>T" "" "{PMID:Heritage 2000:11058898}" "" "W896X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641688C>T" "" "pathogenic (dominant)" "" "0000484510" "0" "90" "20" "10639124" "10639124" "subst" "0" "00006" "JAG1_000393" "g.10639124C>T" "" "{PMID:Heritage 2000:11058898}" "" "C229Y" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658476C>T" "" "pathogenic (dominant)" "" "0000484511" "0" "90" "20" "10629280" "10629281" "del" "0" "00006" "JAG1_000060" "g.10629280_10629281del" "" "{PMID:Heritage 2002:12442286}" "" "1898-1899delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648632_10648633del" "" "pathogenic" "" "0000484512" "0" "90" "20" "10626632" "10626632" "dup" "0" "00006" "JAG1_000686" "g.10626632dup" "" "{PMID:Crosnier 2000:11139247}" "" "1986-1987insC" "" "De novo" "" "" "0" "" "" "g.10645984dup" "" "pathogenic (dominant)" "" "0000484513" "0" "90" "20" "10621507" "10621508" "dup" "0" "00006" "JAG1_000208" "g.10621507_10621508dup" "" "{PMID:Crosnier 2000:11139247}" "" "3123-3124insAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10640859_10640860dup" "" "pathogenic (dominant)" "" "0000484514" "11" "90" "20" "10632283" "10632283" "del" "0" "00006" "JAG1_000356" "g.10632283del" "" "{PMID:Crosnier 2000:11139247}" "" "1066delC" "" "Germline" "" "" "0" "" "" "g.10651635del" "" "pathogenic (dominant)" "" "0000484515" "0" "90" "20" "10622149" "10622150" "del" "0" "00006" "JAG1_000236" "g.10622149_10622150del" "" "{PMID:Crosnier 2000:11139247}" "" "2874-2875delTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641501_10641502del" "" "pathogenic (dominant)" "" "0000484516" "0" "90" "20" "10654139" "10654139" "del" "0" "00006" "JAG1_000447" "g.10654139del" "" "{PMID:Crosnier 2000:11139247}" "" "40delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10673491del" "" "pathogenic (dominant)" "" "0000484517" "21" "90" "20" "10624455" "10624455" "del" "0" "00006" "JAG1_000273" "g.10624455del" "" "{PMID:Crosnier 2000:11139247}" "" "2429delC" "" "Germline" "" "" "0" "" "" "g.10643807del" "" "pathogenic (dominant)" "" "0000484518" "0" "90" "20" "10654143" "10654149" "delins" "0" "00006" "JAG1_000448" "g.10654143_10654149delinsTCCCGAGT" "" "{PMID:Crosnier 2000:11139247}" "" "30CGGGCGC>ACTCGGGA" "" "De novo" "" "" "0" "" "" "g.10673495_10673501delinsTCCCGAGT" "" "pathogenic (dominant)" "" "0000484519" "0" "90" "20" "10625517" "10625518" "dup" "0" "00006" "JAG1_000279" "g.10625517_10625518dup" "" "{PMID:Crosnier 2000:11139247}" "" "2338-2339insTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644869_10644870dup" "" "pathogenic (dominant)" "" "0000484520" "0" "90" "20" "10627705" "10627705" "dup" "0" "00006" "JAG1_000318" "g.10627705dup" "" "{PMID:Crosnier 2000:11139247}" "" "1767-1768insA" "" "De novo" "" "" "0" "" "" "g.10647057dup" "" "pathogenic (dominant)" "" "0000484521" "0" "90" "20" "10622188" "10622188" "del" "0" "00006" "JAG1_000240" "g.10622188del" "" "{PMID:Crosnier 2000:11139247}" "" "2836delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641540del" "" "pathogenic (dominant)" "" "0000484522" "0" "90" "20" "10622254" "10622254" "subst" "0" "00006" "JAG1_000249" "g.10622254G>A" "" "{PMID:Crosnier 2000:11139247}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641606G>A" "" "pathogenic (dominant)" "" "0000484523" "0" "90" "20" "10625598" "10625598" "subst" "0" "00006" "JAG1_000281" "g.10625598A>G" "" "{PMID:Crosnier 2000:11139247}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644950A>G" "" "pathogenic (dominant)" "" "0000484524" "0" "90" "20" "10653594" "10653594" "subst" "0" "00006" "JAG1_000436" "g.10653594C>A" "" "{PMID:Crosnier 2000:11139247}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672946C>A" "" "pathogenic (dominant)" "" "0000484525" "0" "90" "20" "10632809" "10632809" "subst" "0" "00006" "JAG1_000071" "g.10632809C>A" "" "{PMID:Crosnier 2000:11139247}" "" "" "" "De novo" "" "" "0" "" "" "g.10652161C>A" "" "pathogenic (dominant)" "" "0000484526" "0" "90" "20" "10639151" "10639151" "subst" "0" "00006" "JAG1_000396" "g.10639151C>A" "" "{PMID:Crosnier 2000:11139247}" "" "" "" "De novo" "" "" "0" "" "" "g.10658503C>A" "" "pathogenic (dominant)" "" "0000484527" "0" "90" "20" "10653640" "10653661" "del" "0" "00006" "JAG1_000739" "g.10653640_10653661del" "" "{PMID:Crosnier 2000:11139247}" "" "82-7del22" "" "De novo" "" "" "0" "" "" "g.10672992_10673013del" "" "pathogenic (dominant)" "" "0000484528" "0" "90" "20" "10621796" "10621797" "dup" "0" "00006" "JAG1_000219" "g.10621796_10621797dup" "" "{PMID:Colliton 2001:11180599}" "" "3013-3014insTT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641148_10641149dup" "" "pathogenic" "" "0000484529" "0" "90" "20" "10629227" "10629228" "del" "0" "00006" "JAG1_000331" "g.10629227_10629228del" "" "{PMID:Colliton 2001:11180599}" "" "delGT" "" "Germline" "" "" "0" "" "" "g.10648579_10648580del" "" "pathogenic" "" "0000484530" "0" "90" "20" "10621849" "10621849" "del" "0" "00006" "JAG1_000226" "g.10621849del" "" "{PMID:Colliton 2001:11180599}" "" "2960delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641201del" "" "pathogenic" "" "0000484531" "0" "90" "20" "10629244" "10629244" "dup" "0" "00006" "JAG1_000333" "g.10629244dup" "" "{PMID:Colliton 2001:11180599}" "" "1522-1523insA" "" "De novo" "" "" "0" "" "" "g.10648596dup" "" "pathogenic" "" "0000484532" "0" "90" "20" "10625898" "10625898" "dup" "0" "00006" "JAG1_000290" "g.10625898dup" "" "{PMID:Colliton 2001:11180599}" "" "2120insG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645250dup" "" "pathogenic" "" "0000484533" "0" "90" "20" "10630938" "10630938" "del" "0" "00006" "JAG1_000349" "g.10630938del" "" "{PMID:Colliton 2001:11180599}" "" "1191delG" "" "De novo" "" "" "0" "" "" "g.10650290del" "" "pathogenic" "" "0000484534" "0" "90" "20" "10627614" "10627620" "del" "0" "00006" "JAG1_000312" "g.10627614_10627620del" "" "{PMID:Colliton 2001:11180599}" "" "1852dek7" "" "De novo" "" "" "0" "" "" "g.10646966_10646972del" "" "pathogenic" "" "0000484535" "11" "90" "20" "10625577" "10625578" "ins" "0" "00006" "JAG1_000280" "g.10625577_10625578insT" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline" "" "" "0" "" "" "g.10644929_10644930insT" "" "pathogenic" "" "0000484536" "0" "90" "20" "10654112" "10654113" "del" "0" "00006" "JAG1_000145" "g.10654112_10654113del" "" "{PMID:Colliton 2001:11180599}" "" "66_67delTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10673464_10673465del" "" "pathogenic" "" "0000484537" "0" "90" "20" "10654175" "10654176" "delins" "0" "00006" "JAG1_000151" "g.10654175_10654176delinsAA" "" "{PMID:Colliton 2001:11180599}" "" "3GC>TT" "" "De novo" "" "" "0" "" "" "g.10673527_10673528delinsAA" "" "pathogenic" "" "0000484538" "0" "90" "20" "10639289" "10639292" "dup" "0" "00006" "JAG1_000406" "g.10639289_10639292dup" "" "{PMID:Colliton 2001:11180599}" "" "517-518insACAC" "" "De novo" "" "" "0" "" "" "g.10658641_10658644dup" "" "pathogenic" "" "0000484539" "0" "90" "20" "10653511" "10653525" "del" "0" "00006" "JAG1_000125" "g.10653511_10653525del" "" "{PMID:Colliton 2001:11180599}" "" "" "" "De novo" "" "" "0" "" "" "g.10672863_10672877del" "" "pathogenic" "" "0000484540" "0" "90" "20" "10624442" "10624442" "dup" "0" "00006" "JAG1_000272" "g.10624442dup" "" "{PMID:Colliton 2001:11180599}" "" "2442-2443insG" "" "De novo" "" "" "0" "" "" "g.10643794dup" "" "pathogenic" "" "0000484541" "0" "90" "20" "10633240" "10633246" "del" "0" "00006" "JAG1_000386" "g.10633240_10633246del" "" "{PMID:Colliton 2001:11180599}" "" "756_762del2" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652592_10652598del" "" "pathogenic" "" "0000484542" "0" "90" "20" "10654109" "10654109" "del" "0" "00006" "JAG1_000144" "g.10654109del" "" "{PMID:Colliton 2001:11180599}" "" "68delC" "" "De novo" "" "" "0" "" "" "g.10673461del" "" "pathogenic" "" "0000484543" "0" "90" "20" "10627725" "10627725" "del" "0" "00006" "JAG1_000319" "g.10627725del" "" "{PMID:Colliton 2001:11180599}" "" "1747-1748delG" "" "De novo" "" "" "0" "" "" "g.10647077del" "" "pathogenic" "" "0000484544" "0" "90" "20" "10632268" "10632269" "del" "0" "00006" "JAG1_000355" "g.10632268_10632269del" "" "{PMID:Colliton 2001:11180599}" "" "1079-1080delGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10651620_10651621del" "" "pathogenic" "" "0000484545" "0" "90" "20" "10622250" "10622251" "dup" "0" "00006" "JAG1_000246" "g.10622250_10622251dup" "" "{PMID:Colliton 2001:11180599}" "" "2774-2775insTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641602_10641603dup" "" "pathogenic" "" "0000484546" "0" "90" "20" "10623192" "10623203" "del" "0" "00006" "JAG1_000269" "g.10623192_10623203del" "" "{PMID:Colliton 2001:11180599}" "" "2505-2517del12" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10642544_10642555del" "" "pathogenic" "" "0000484547" "0" "90" "20" "10622512" "10622513" "dup" "0" "00006" "JAG1_000265" "g.10622512_10622513dup" "" "{PMID:Colliton 2001:11180599}" "" "2598insGG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641864_10641865dup" "" "pathogenic" "" "0000484548" "0" "90" "20" "10621865" "10621866" "ins" "0" "00006" "JAG1_000228" "g.10621865_10621866insG" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641217_10641218insG" "" "pathogenic" "" "0000484549" "0" "90" "20" "10627663" "10627663" "del" "0" "00006" "JAG1_000315" "g.10627663del" "" "" "" "1807delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10647015del" "" "pathogenic" "" "0000484550" "0" "90" "20" "10621531" "10621531" "del" "0" "00006" "JAG1_000210" "g.10621531del" "" "{PMID:Colliton 2001:11180599}" "" "3099delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10640883del" "" "pathogenic" "" "0000484551" "0" "90" "20" "10627670" "10627670" "del" "0" "00006" "JAG1_000316" "g.10627670del" "" "{PMID:Colliton 2001:11180599}" "" "1801delC" "" "De novo" "" "" "0" "" "" "g.10647022del" "" "pathogenic" "" "0000484552" "11" "90" "20" "10621803" "10621806" "del" "0" "00006" "JAG1_000223" "g.10621803_10621806del" "" "{PMID:Colliton 2001:11180599}" "" "3001delGCTT" "" "Germline" "" "" "0" "" "" "g.10641155_10641158del" "" "pathogenic" "" "0000484553" "0" "90" "20" "10628671" "10628671" "subst" "0" "00006" "JAG1_000325" "g.10628671C>A" "" "{PMID:Colliton 2001:11180599}" "" "" "" "De novo" "" "" "0" "" "" "g.10648023C>A" "" "pathogenic" "" "0000484554" "0" "90" "20" "10653609" "10653609" "subst" "0" "00006" "JAG1_000133" "g.10653609G>A" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672961G>A" "" "pathogenic" "" "0000484555" "0" "90" "20" "10653588" "10653588" "subst" "4.07272E-6" "00006" "JAG1_000131" "g.10653588G>A" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672940G>A" "" "pathogenic" "" "0000484556" "0" "90" "20" "10639296" "10639296" "subst" "0" "00006" "JAG1_000407" "g.10639296G>A" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658648G>A" "" "pathogenic" "" "0000484557" "21" "90" "20" "10632292" "10632292" "subst" "0" "00006" "JAG1_000357" "g.10632292C>A" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline" "" "" "0" "" "" "g.10651644C>A" "" "pathogenic" "" "0000484558" "0" "90" "20" "10653638" "10653638" "subst" "0" "00006" "JAG1_000137" "g.10653638C>T" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672990C>T" "" "pathogenic" "" "0000484559" "0" "90" "20" "10639269" "10639269" "subst" "0" "00006" "JAG1_000405" "g.10639269A>T" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline" "" "" "0" "" "" "g.10658621A>T" "" "pathogenic" "" "0000484560" "11" "90" "20" "10630213" "10630213" "subst" "0" "00006" "JAG1_000343" "g.10630213G>C" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline" "" "" "0" "" "" "g.10649565G>C" "" "pathogenic" "" "0000484561" "0" "90" "20" "10628687" "10628687" "subst" "0" "00006" "JAG1_000326" "g.10628687A>C" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648039A>C" "" "pathogenic" "" "0000484562" "0" "90" "20" "10629199" "10629199" "subst" "0" "00006" "JAG1_000329" "g.10629199G>A" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648551G>A" "" "pathogenic" "" "0000484563" "21" "90" "20" "10625877" "10625877" "subst" "0" "00006" "JAG1_000288" "g.10625877C>T" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline" "" "" "0" "" "" "g.10645229C>T" "" "pathogenic" "" "0000484564" "0" "90" "20" "10653503" "10653503" "subst" "0" "00006" "JAG1_000429" "g.10653503C>G" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672855C>G" "" "pathogenic" "" "0000484565" "21" "90" "20" "10622319" "10622319" "subst" "0" "00006" "JAG1_000257" "g.10622319C>G" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline" "" "" "0" "" "" "g.10641671C>G" "" "pathogenic" "" "0000484566" "0" "90" "20" "10624466" "10624466" "subst" "0" "00006" "JAG1_000275" "g.10624466G>T" "" "{PMID:Colliton 2001:11180599}" "" "" "" "De novo" "" "" "0" "" "" "g.10643818G>T" "" "pathogenic" "" "0000484567" "0" "90" "20" "10653626" "10653626" "subst" "0" "00006" "JAG1_000134" "g.10653626A>G" "" "{PMID:Colliton 2001:11180599}" "" "" "" "De novo" "" "" "0" "" "" "g.10672978A>G" "" "pathogenic" "" "0000484568" "0" "90" "20" "10654106" "10654126" "del" "0" "00006" "JAG1_000143" "g.10654106_10654126del" "" "{PMID:Colliton 2001:11180599}" "" "48_68del21" "" "De novo" "" "" "0" "" "" "g.10673458_10673478del" "" "pathogenic (dominant)" "" "0000484569" "21" "90" "20" "10620582" "10620585" "dup" "0" "00006" "JAG1_000198" "g.10620582_10620585dup" "" "{PMID:Giannakudis 2001:11313761}" "" "3681insTGAG" "germline mosaicism in mother" "Germline" "yes" "" "0" "" "" "g.10639934_10639937dup" "" "pathogenic (dominant)" "" "0000484570" "11" "90" "20" "10630192" "10630192" "subst" "0" "00006" "JAG1_000340" "g.10630192C>T" "" "{PMID:Giannakudis 2001:11313761}" "" "1785G>A" "" "Germline" "yes" "" "0" "" "" "g.10649544C>T" "" "pathogenic (dominant)" "" "0000484571" "21" "90" "20" "10618332" "10654694" "del" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Giannakudis 2001:11313761}" "" "" "detected using FISH (cosmid 3e9), mosaic in mother" "Germline" "" "" "0" "" "" "g.(?_10637684)_(10674046_?)del" "" "pathogenic (dominant)" "" "0000484572" "0" "90" "20" "10653574" "10653575" "delins" "0" "00006" "JAG1_000129" "g.10653574_10653575delinsTT" "" "{PMID:Yuan 2001:11359464}" "" "620GC>AA" "" "De novo" "" "" "0" "" "" "g.10672926_10672927delinsTT" "" "pathogenic (dominant)" "" "0000484573" "0" "90" "20" "10653638" "10653638" "dup" "0" "00006" "JAG1_000440" "g.10653638dup" "" "{PMID:Yuan 2001:11359464}" "" "557insG" "" "De novo" "" "" "0" "" "" "g.10672990dup" "" "pathogenic (dominant)" "" "0000484574" "0" "90" "20" "10624420" "10624420" "dup" "0" "00006" "JAG1_000270" "g.10624420dup" "" "{PMID:Yuan 2001:11359464}" "" "2917+6insG" "" "Germline" "" "" "0" "" "" "g.10643772dup" "" "likely pathogenic (dominant)" "" "0000484575" "21" "90" "20" "10622131" "10622131" "subst" "0" "00006" "JAG1_000235" "g.10622131A>G" "" "{PMID:Yuan 2001:11359464}" "" "3352T>C" "" "Germline" "" "" "0" "" "" "g.10641483A>G" "" "pathogenic (dominant)" "" "0000484576" "0" "90" "20" "10653495" "10653495" "subst" "0" "00006" "JAG1_000426" "g.10653495C>A" "" "{PMID:Yuan 2001:11359464}" "" "700G>T" "" "De novo" "" "" "0" "" "" "g.10672847C>A" "" "pathogenic (dominant)" "" "0000484577" "21" "90" "20" "10653503" "10653503" "subst" "0" "00006" "JAG1_000430" "g.10653503C>T" "" "{PMID:Yuan 2001:11359464}" "" "692G>A" "" "Germline" "" "" "0" "" "" "g.10672855C>T" "" "pathogenic (dominant)" "" "0000484578" "21" "90" "20" "10621496" "10621497" "ins" "0" "00006" "JAG1_000207" "g.10621496_10621497insA" "" "{PMID:Heritage 2002:12442286}" "" "3547insT" "" "Germline" "" "" "0" "" "" "g.10640848_10640849insA" "" "pathogenic (dominant)" "" "0000484579" "0" "90" "20" "10626654" "10626654" "del" "0" "00006" "JAG1_000309" "g.10626654del" "" "{PMID:Heritage 2002:12442286}" "" "2377delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10646006del" "" "pathogenic (dominant)" "" "0000484580" "21" "90" "20" "10622285" "10622285" "subst" "0" "00006" "JAG1_000252" "g.10622285G>C" "" "{PMID:Heritage 2002:12442286}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10641637G>C" "" "pathogenic (dominant)" "" "0000484581" "0" "90" "20" "10653620" "10653620" "subst" "0" "00006" "JAG1_000439" "g.10653620A>C" "" "{PMID:Heritage 2002:12442286}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672972A>C" "" "pathogenic (dominant)" "" "0000484582" "21" "90" "20" "10622318" "10622318" "subst" "0" "00006" "JAG1_000256" "g.10622318G>T" "" "{PMID:Heritage 2002:12442286}" "" "" "" "Germline" "" "" "0" "" "" "g.10641670G>T" "" "pathogenic (dominant)" "" "0000484583" "0" "90" "20" "10633190" "10633191" "del" "0" "00006" "JAG1_000648" "g.10633190_10633191del" "" "{PMID:Heritage 2002:12442286}" "" "1224-1225delTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652542_10652543del" "" "pathogenic" "" "0000484584" "0" "90" "20" "10622214" "10622214" "subst" "0.00192595" "00006" "JAG1_000020" "g.10622214C>T" "" "{PMID:Ropke 2003:12497640}" "" "3223G>A" "" "Germline/De novo (untested)" "" "rs145895196" "0" "" "" "g.10641566C>T" "" "pathogenic (dominant)" "" "0000484585" "0" "90" "20" "10622126" "10622126" "dup" "0" "00006" "JAG1_000234" "g.10622126dup" "" "{PMID:Ropke 2003:12497640}" "" "3311_3312insC" "" "De novo" "" "" "0" "" "" "g.10641478dup" "" "pathogenic (dominant)" "" "0000484586" "0" "90" "20" "10621809" "10621815" "dup" "0" "00006" "JAG1_000224" "g.10621809_10621815dup" "" "{PMID:Ropke 2003:12497640}" "" "3413_3414insCTACATC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641161_10641167dup" "" "pathogenic (dominant)" "" "0000484587" "0" "90" "20" "10633190" "10633190" "del" "0" "00006" "JAG1_000378" "g.10633190del" "" "{PMID:Ropke 2003:12497640}" "" "1225delG" "" "De novo" "" "" "0" "" "" "g.10652542del" "" "pathogenic (dominant)" "" "0000484588" "0" "90" "20" "10627674" "10627675" "del" "0" "00006" "JAG1_000317" "g.10627674_10627675del" "" "{PMID:Ropke 2003:12497640}" "" "2210_2211delTG" "" "De novo" "" "" "0" "" "" "g.10647026_10647027del" "" "pathogenic (dominant)" "" "0000484589" "21" "90" "20" "10621894" "10621894" "subst" "0" "00006" "JAG1_000643" "g.10621894T>C" "" "{PMID:Ropke 2003:12497640}" "" "3330-2A>G" "" "Germline" "" "" "0" "" "" "g.10641246T>C" "" "pathogenic (dominant)" "" "0000484590" "21" "90" "20" "10626640" "10626644" "del" "0" "00006" "JAG1_000307" "g.10626640_10626644del" "" "{PMID:Ropke 2003:12497640}" "" "2387_2391del5" "" "Germline" "" "" "0" "" "" "g.10645992_10645996del" "" "pathogenic (dominant)" "" "0000484591" "0" "90" "20" "10628642" "10628643" "del" "0" "00006" "JAG1_000323" "g.10628642_10628643del" "" "{PMID:Ropke 2003:12497640}" "" "2098_2099delAC" "" "De novo" "" "" "0" "" "" "g.10647994_10647995del" "" "pathogenic (dominant)" "" "0000484592" "11" "90" "20" "10653358" "10653358" "del" "0" "00006" "JAG1_000421" "g.10653358del" "" "{PMID:Ropke 2003:12497640}" "" "791delC" "" "Germline" "" "" "0" "" "" "g.10672710del" "" "pathogenic (dominant)" "" "0000484593" "0" "90" "20" "10637053" "10637053" "delins" "0" "00006" "JAG1_000390" "g.10637053delinsACT" "" "{PMID:Ropke 2003:12497640}" "" "1160_1161insAGT;1164delG" "" "De novo" "" "" "0" "" "" "g.10656405delinsACT" "" "pathogenic (dominant)" "" "0000484594" "0" "90" "20" "10632342" "10632342" "del" "0" "00006" "JAG1_000361" "g.10632342del" "" "{PMID:Ropke 2003:12497640}" "" "1420delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10651694del" "" "pathogenic (dominant)" "" "0000484595" "21" "90" "20" "10621754" "10621756" "del" "0" "00006" "JAG1_000212" "g.10621754_10621756del" "" "{PMID:Ropke 2003:12497640}" "" "3461+5delGTA" "" "Germline" "" "" "0" "" "" "g.10641106_10641108del" "" "pathogenic" "" "0000484596" "0" "90" "20" "10653652" "10653652" "del" "0" "00006" "JAG1_000442" "g.10653652del" "" "{PMID:Ropke 2003:12497640}" "" "497delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10673004del" "" "pathogenic (dominant)" "" "0000484597" "0" "90" "20" "10621849" "10621859" "del" "0" "00006" "JAG1_000227" "g.10621849_10621859del" "" "{PMID:Ropke 2003:12497640}" "" "3363_3373del11" "" "De novo" "" "" "0" "" "" "g.10641201_10641211del" "" "pathogenic (dominant)" "" "0000484598" "0" "90" "20" "10632804" "10632805" "dup" "0" "00006" "JAG1_000364" "g.10632804_10632805dup" "" "{PMID:Ropke 2003:12497640}" "" "1394_1395insGG" "" "De novo" "" "" "0" "" "" "g.10652156_10652157dup" "" "pathogenic (dominant)" "" "0000484599" "0" "90" "20" "10626051" "10626052" "del" "0" "00006" "JAG1_000301" "g.10626051_10626052del" "" "{PMID:Ropke 2003:12497640}" "" "2478_2479delTT" "" "De novo" "" "" "0" "" "" "g.10645403_10645404del" "" "pathogenic (dominant)" "" "0000484600" "0" "90" "20" "10632856" "10632856" "del" "0" "00006" "JAG1_000367" "g.10632856del" "" "{PMID:Ropke 2003:12497640}" "" "1342delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652208del" "" "pathogenic (dominant)" "" "0000484601" "0" "90" "20" "10625605" "10625605" "del" "0" "00006" "JAG1_000282" "g.10625605del" "" "{PMID:Ropke 2003:12497640}" "" "2663delC" "" "De novo" "" "" "0" "" "" "g.10644957del" "" "pathogenic (dominant)" "" "0000484602" "21" "90" "20" "10628725" "10628725" "subst" "0" "00006" "JAG1_000328" "g.10628725G>A" "" "{PMID:Ropke 2003:12497640}" "" "2016C>T" "" "Germline" "" "" "0" "" "" "g.10648077G>A" "" "pathogenic (dominant)" "" "0000484603" "0" "90" "20" "10623142" "10623142" "subst" "0" "00006" "JAG1_000005" "g.10623142G>A" "" "{PMID:Ropke 2003:12497640}" "" "2979C>T" "" "De novo" "" "" "0" "" "" "g.10642494G>A" "" "pathogenic (dominant)" "" "0000484604" "0" "90" "20" "10622200" "10622200" "subst" "4.06246E-6" "00006" "JAG1_000242" "g.10622200G>A" "" "{PMID:Ropke 2003:12497640}" "" "3237C>T" "" "De novo" "" "" "0" "" "" "g.10641552G>A" "" "pathogenic (dominant)" "" "0000484605" "11" "90" "20" "10622161" "10622161" "subst" "0" "00006" "JAG1_000237" "g.10622161G>A" "" "{PMID:Ropke 2003:12497640}" "" "3276C>T" "" "Germline" "" "" "0" "" "" "g.10641513G>A" "" "pathogenic (dominant)" "" "0000484606" "21" "90" "20" "10639322" "10639322" "subst" "0" "00006" "JAG1_000411" "g.10639322G>C" "" "{PMID:Ropke 2003:12497640}" "" "901C>G" "" "Germline" "" "" "0" "" "" "g.10658674G>C" "" "pathogenic (dominant)" "" "0000484607" "21" "90" "20" "10633196" "10633196" "subst" "0" "00006" "JAG1_000380" "g.10633196G>A" "" "{PMID:Ropke 2003:12497640}" "" "1219C>T" "" "Germline" "" "" "0" "" "" "g.10652548G>A" "" "pathogenic (dominant)" "" "0000484608" "0" "90" "20" "10653617" "10653617" "subst" "0" "00006" "JAG1_000438" "g.10653617A>G" "" "{PMID:Ropke 2003:12497640}" "" "532C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672969A>G" "" "pathogenic (dominant)" "" "0000484609" "11" "90" "20" "10653644" "10653644" "subst" "0" "00006" "JAG1_000441" "g.10653644G>A" "" "{PMID:Ropke 2003:12497640}" "" "505C>T" "" "Germline" "" "" "0" "" "" "g.10672996G>A" "" "pathogenic (dominant)" "" "0000484610" "21" "90" "20" "10653369" "10653369" "subst" "0" "00006" "JAG1_000423" "g.10653369G>A" "" "{PMID:Ropke 2003:12497640}" "" "780C>T" "" "Germline" "" "" "0" "" "" "g.10672721G>A" "" "pathogenic (dominant)" "" "0000484611" "0" "90" "20" "10639337" "10639337" "subst" "0" "00006" "JAG1_000412" "g.10639337G>T" "" "{PMID:Ropke 2003:12497640}" "" "886C>A" "" "De novo" "" "" "0" "" "" "g.10658689G>T" "" "pathogenic (dominant)" "" "0000484612" "0" "90" "20" "10653353" "10653353" "subst" "0" "00006" "JAG1_000419" "g.10653353C>T" "" "{PMID:Ropke 2003:12497640}" "" "796G>A" "" "De novo" "" "" "0" "" "" "g.10672705C>T" "" "pathogenic (dominant)" "" "0000484613" "0" "90" "20" "10626642" "10626642" "subst" "0" "00006" "JAG1_000308" "g.10626642C>T" "" "{PMID:Ropke 2003:12497640}" "" "2389G>A" "" "De novo" "" "" "0" "" "" "g.10645994C>T" "" "pathogenic (dominant)" "" "0000484614" "0" "90" "20" "10639138" "10639138" "subst" "0" "00006" "JAG1_000395" "g.10639138C>A" "" "{PMID:Ropke 2003:12497640}" "" "1085G>T" "" "De novo" "" "" "0" "" "" "g.10658490C>A" "" "pathogenic (dominant)" "" "0000484615" "0" "90" "20" "10653512" "10653512" "subst" "0" "00006" "JAG1_000431" "g.10653512A>G" "" "{PMID:Ropke 2003:12497640}" "" "637T>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672864A>G" "" "pathogenic (dominant)" "" "0000484616" "11" "90" "20" "10653656" "10653656" "subst" "0" "00006" "JAG1_000641" "g.10653656T>C" "" "{PMID:Ropke 2003:12497640}" "" "495-2A>G" "" "Germline" "" "" "0" "" "" "g.10673008T>C" "" "pathogenic (dominant)" "" "0000484617" "0" "90" "20" "10625004" "10625004" "subst" "0" "00006" "JAG1_000642" "g.10625004C>T" "" "{PMID:Ropke 2003:12497640}" "" "2785+1G>A" "" "De novo" "" "" "0" "" "" "g.10644356C>T" "" "pathogenic (dominant)" "" "0000484618" "0" "90" "20" "10625003" "10625003" "dup" "0" "00006" "JAG1_000277" "g.10625003dup" "" "{PMID:Ropke 2003:12497640}" "" "2785+2insT" "" "De novo" "" "" "0" "" "" "g.10644355dup" "" "pathogenic (dominant)" "" "0000484619" "0" "90" "20" "10633237" "10633237" "subst" "0" "00006" "JAG1_000385" "g.10633237G>C" "" "{PMID:Witt 2004:14676605}" "" "" "" "Germline" "" "rs1131695" "0" "" "" "g.10652589G>C" "" "pathogenic (dominant)" "" "0000484620" "21" "90" "20" "10653377" "10653377" "subst" "0" "00006" "JAG1_000425" "g.10653377A>T" "" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Germline" "" "" "0" "" "" "g.10672729A>T" "" "pathogenic (dominant)" "" "0000484621" "11" "90" "20" "10633161" "10633161" "subst" "0" "00006" "JAG1_000375" "g.10633161G>A" "" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Germline" "" "" "0" "" "" "g.10652513G>A" "" "pathogenic (dominant)" "" "0000484622" "0" "90" "20" "10639250" "10639250" "subst" "0" "00006" "JAG1_000402" "g.10639250C>T" "" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658602C>T" "" "pathogenic (dominant)" "" "0000484623" "0" "90" "20" "10629280" "10629281" "del" "0" "00006" "JAG1_000060" "g.10629280_10629281del" "" "{PMID:Jurkiewicz 2005:15712272}" "" "1485_1486delCT" "" "De novo" "" "" "0" "" "" "g.10648632_10648633del" "" "pathogenic (dominant)" "" "0000484624" "0" "90" "20" "10622271" "10622271" "del" "0" "00006" "JAG1_000251" "g.10622271del" "" "{PMID:Jurkiewicz 2005:15712272}" "" "2573delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641623del" "" "pathogenic (dominant)" "" "0000484625" "21" "90" "20" "10627662" "10627663" "ins" "0" "00006" "JAG1_000314" "g.10627662_10627663insCCCA" "" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Germline" "" "" "0" "" "" "g.10647014_10647015insCCCA" "" "pathogenic (dominant)" "" "0000484626" "0" "90" "20" "10621760" "10621760" "dup" "0" "00006" "JAG1_000213" "g.10621760dup" "" "{PMID:Jurkiewicz 2005:15712272}" "" "3048+1_3048+2insG" "" "De novo" "" "" "0" "" "" "g.10641112dup" "" "pathogenic (dominant)" "" "0000484627" "0" "90" "20" "10630932" "10630932" "del" "0" "00006" "JAG1_000348" "g.10630932del" "" "{PMID:Jurkiewicz 2005:15712272}" "" "1197delG" "" "De novo" "" "" "0" "" "" "g.10650284del" "" "pathogenic (dominant)" "" "0000484628" "0" "90" "20" "10653558" "10653564" "del" "0" "00006" "JAG1_000433" "g.10653558_10653564del" "" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672910_10672916del" "" "pathogenic (dominant)" "" "0000484629" "0" "90" "20" "10639301" "10639301" "del" "0" "00006" "JAG1_000408" "g.10639301del" "" "{PMID:Jurkiewicz 2005:15712272}" "" "509delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658653del" "" "pathogenic (dominant)" "" "0000484630" "0" "90" "20" "10630901" "10630901" "subst" "0" "00006" "JAG1_000345" "g.10630901G>A" "" "{PMID:Boyer 2005:15772854}" "" "" "" "Germline" "" "" "0" "" "" "g.10650253G>A" "" "pathogenic (dominant)" "" "0000484631" "0" "90" "20" "10654143" "10654149" "delins" "0" "00006" "JAG1_000448" "g.10654143_10654149delinsTCCCGAGT" "" "{PMID:Boyer 2005:15772854}" "" "30CGGGCGC>ACTCGGGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10673495_10673501delinsTCCCGAGT" "" "pathogenic (dominant)" "" "0000484632" "0" "90" "20" "10626084" "10626084" "del" "0" "00006" "JAG1_000303" "g.10626084del" "" "{PMID:Boyer 2005:15772854}" "" "2033delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645436del" "" "pathogenic (dominant)" "" "0000484633" "0" "90" "20" "10629255" "10629255" "subst" "3.6553E-5" "00006" "JAG1_000334" "g.10629255T>C" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10648607T>C" "" "pathogenic" "" "0000484634" "0" "90" "20" "10633191" "10633191" "subst" "0" "00006" "JAG1_000379" "g.10633191A>G" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10652543A>G" "" "pathogenic" "" "0000484635" "0" "90" "20" "10637047" "10637047" "subst" "0" "00006" "JAG1_000388" "g.10637047T>C" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10656399T>C" "" "pathogenic" "" "0000484636" "0" "90" "20" "10629238" "10629238" "subst" "0" "00006" "JAG1_000332" "g.10629238G>A" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10648590G>A" "" "pathogenic" "" "0000484637" "0" "90" "20" "10622447" "10622447" "subst" "5.68643E-5" "00006" "JAG1_000261" "g.10622447C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641799C>T" "" "pathogenic" "" "0000484638" "0" "90" "20" "10653462" "10653462" "subst" "0" "00006" "JAG1_000118" "g.10653462A>G" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10672814A>G" "" "pathogenic" "" "0000484639" "0" "90" "20" "10639347" "10639347" "subst" "0" "00006" "JAG1_000414" "g.10639347C>G" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10658699C>G" "" "pathogenic" "" "0000484640" "0" "90" "20" "10653639" "10653639" "subst" "0" "00006" "JAG1_000139" "g.10653639C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10672991C>T" "" "pathogenic" "" "0000484641" "0" "90" "20" "10653638" "10653638" "subst" "0" "00006" "JAG1_000138" "g.10653638C>A" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10672990C>A" "" "pathogenic" "" "0000484642" "0" "90" "20" "10628663" "10628663" "subst" "0" "00006" "JAG1_000324" "g.10628663A>C" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10648015A>C" "" "pathogenic" "" "0000484643" "0" "90" "20" "10653449" "10653449" "subst" "0" "00006" "JAG1_000115" "g.10653449G>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10672801G>T" "" "pathogenic" "" "0000484644" "0" "90" "20" "10632799" "10632799" "subst" "0" "00006" "JAG1_000362" "g.10632799G>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10652151G>T" "" "pathogenic" "" "0000484645" "0" "90" "20" "10644611" "10644611" "subst" "0" "00006" "JAG1_000093" "g.10644611G>A" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10663963G>A" "" "pathogenic" "" "0000484646" "0" "90" "20" "10632875" "10632875" "subst" "0" "00006" "JAG1_000370" "g.10632875G>A" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10652227G>A" "" "pathogenic" "" "0000484647" "0" "90" "20" "10625896" "10625896" "subst" "0" "00006" "JAG1_000289" "g.10625896G>A" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10645248G>A" "" "pathogenic" "" "0000484648" "0" "90" "20" "10653461" "10653461" "subst" "0" "00006" "JAG1_000117" "g.10653461C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10672813C>T" "" "pathogenic" "" "0000484649" "0" "90" "20" "10622292" "10622292" "subst" "0" "00006" "JAG1_000253" "g.10622292C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641644C>T" "" "pathogenic" "" "0000484650" "0" "90" "20" "10639222" "10639222" "subst" "0" "00006" "JAG1_000398" "g.10639222G>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10658574G>T" "" "pathogenic" "" "0000484651" "0" "90" "20" "10623170" "10623170" "subst" "0" "00006" "JAG1_000267" "g.10623170G>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10642522G>T" "" "pathogenic" "" "0000484652" "0" "90" "20" "10653571" "10653571" "subst" "0" "00006" "JAG1_000128" "g.10653571G>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10672923G>T" "" "pathogenic" "" "0000484653" "0" "90" "20" "10630193" "10630193" "subst" "0" "00006" "JAG1_000341" "g.10630193C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10649545C>T" "" "pathogenic" "" "0000484654" "0" "90" "20" "10626026" "10626026" "subst" "0" "00006" "JAG1_000297" "g.10626026C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10645378C>T" "" "pathogenic" "" "0000484655" "0" "90" "20" "10633236" "10633236" "subst" "0" "00006" "JAG1_000384" "g.10633236C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10652588C>T" "" "pathogenic" "" "0000484656" "0" "90" "20" "10626039" "10626039" "subst" "0" "00006" "JAG1_000298" "g.10626039C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10645391C>T" "" "pathogenic" "" "0000484657" "0" "90" "20" "10618332" "10654694" "" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Warthen 2006:16575836}" "" "deletion JAG1 gene, incl. YAC 940D11" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000484658" "0" "90" "20" "10618332" "10654694" "" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Warthen 2006:16575836}" "" "deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-103H2 inclusive" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000484659" "0" "90" "20" "10618332" "10654694" "" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Warthen 2006:16575836}" "" "deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-103H2 inclusive" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000484660" "0" "90" "20" "10618332" "10654694" "" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Warthen 2006:16575836}" "" "deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-162P21 inclusive" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000484661" "0" "90" "20" "10618332" "10654694" "" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Warthen 2006:16575836}" "" "deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-162P21 inclusive" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000484662" "0" "90" "20" "10618332" "10654694" "" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Warthen 2006:16575836}" "" "deletion JAG1 gene, region between YAC clones 854B1 and 940D11 inclusive" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000484663" "0" "90" "20" "10618332" "10654694" "" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Warthen 2006:16575836}" "" "deletion JAG1 gene, region between YAC clones 854B1 and 940D11 inclusive" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000484664" "0" "90" "20" "10618332" "10654694" "" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Warthen 2006:16575836}" "" "deletion JAG1 gene, region between YAC clones40D11 and 964H2 inclusive" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000484665" "0" "90" "20" "10653348" "10654694" "del" "0" "00006" "JAG1_000614" "g.(10644663_10653348)_(10654694_?)del" "" "{PMID:Warthen 2006:16575836}" "" "deletion ex1-2" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000484670" "0" "90" "20" "10621467" "10621467" "del" "0" "00006" "JAG1_000205" "g.10621467del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10640819del" "" "pathogenic" "" "0000484671" "0" "90" "20" "10621874" "10621874" "dup" "0" "00006" "JAG1_000229" "g.10621874dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641226dup" "" "pathogenic" "" "0000484672" "0" "90" "20" "10629267" "10629267" "del" "0" "00006" "JAG1_000059" "g.10629267del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10648619del" "" "pathogenic" "" "0000484673" "0" "90" "20" "10628615" "10628615" "del" "0" "00006" "JAG1_000107" "g.10628615del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10647967del" "" "pathogenic" "" "0000484674" "0" "90" "20" "10621464" "10621466" "del" "0" "00006" "JAG1_000204" "g.10621464_10621466del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10640816_10640818del" "" "pathogenic" "" "0000484675" "0" "90" "20" "10631003" "10631003" "del" "0" "00006" "JAG1_000353" "g.10631003del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10650355del" "" "pathogenic" "" "0000484676" "0" "90" "20" "10621433" "10621433" "dup" "0" "00006" "JAG1_000201" "g.10621433dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10640785dup" "" "pathogenic" "" "0000484677" "0" "90" "20" "10628615" "10628615" "dup" "0" "00006" "JAG1_000322" "g.10628615dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10647967dup" "" "pathogenic" "" "0000484678" "0" "90" "20" "10622236" "10622250" "delins" "0" "03298" "JAG1_000245" "g.10622236_10622250delinsTGCCCTGG" "" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "2773_2787delinsCCAGGGCA" "" "Germline" "" "" "0" "" "" "g.10641588_10641602delinsTGCCCTGG" "" "pathogenic" "" "0000484679" "0" "90" "20" "10630930" "10630931" "del" "0" "00006" "JAG1_000347" "g.10630930_10630931del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10650282_10650283del" "" "pathogenic" "" "0000484680" "0" "90" "20" "10622226" "10622226" "dup" "0" "00006" "JAG1_000244" "g.10622226dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641578dup" "" "pathogenic" "" "0000484681" "0" "90" "20" "10622524" "10622527" "dup" "0" "00006" "JAG1_000266" "g.10622524_10622527dup" "" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "" "" "Germline" "" "" "0" "" "" "g.10641876_10641879dup" "" "pathogenic" "" "0000484682" "0" "90" "20" "10621900" "10621905" "del" "0" "00006" "JAG1_000233" "g.10621900_10621905del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641252_10641257del" "" "pathogenic" "" "0000484683" "0" "90" "20" "10621831" "10621834" "dup" "0" "00006" "JAG1_000225" "g.10621831_10621834dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641183_10641186dup" "" "pathogenic" "" "0000484684" "0" "90" "20" "10622430" "10622430" "dup" "0" "00006" "JAG1_000259" "g.10622430dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641782dup" "" "pathogenic" "" "0000484685" "0" "90" "20" "10622194" "10622194" "dup" "0" "00006" "JAG1_000241" "g.10622194dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641546dup" "" "pathogenic" "" "0000484687" "0" "90" "20" "10622251" "10622256" "delins" "0" "00006" "JAG1_000247" "g.10622251_10622256delinsTG" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641603_10641608delinsTG" "" "pathogenic" "" "0000484688" "0" "90" "20" "10621467" "10621470" "del" "0" "00006" "JAG1_000206" "g.10621467_10621470del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10640819_10640822del" "" "pathogenic" "" "0000484689" "0" "90" "20" "10621527" "10621527" "dup" "0" "00006" "JAG1_000209" "g.10621527dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10640879dup" "" "pathogenic" "" "0000484690" "0" "90" "20" "10653466" "10653466" "del" "0" "00006" "JAG1_000119" "g.10653466del" "" "{PMID:Warthen 2006:16575836}, {PMID:Agrawal 2015:25596152}" "" "" "" "Germline" "" "" "0" "" "" "g.10672818del" "" "pathogenic" "" "0000484691" "0" "90" "20" "10653445" "10653445" "del" "0" "00006" "JAG1_000114" "g.10653445del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10672797del" "" "pathogenic" "" "0000484692" "0" "90" "20" "10653439" "10653445" "del" "0" "00006" "JAG1_000113" "g.10653439_10653445del" "" "{PMID:Warthen 2006:16575836}" "" "290_296del" "" "Germline" "" "" "0" "" "" "g.10672791_10672797del" "" "pathogenic" "" "0000484693" "0" "90" "20" "10637055" "10637062" "del" "0" "00006" "JAG1_000391" "g.10637055_10637062del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10656407_10656414del" "" "pathogenic" "" "0000484694" "0" "90" "20" "10639228" "10639228" "dup" "0" "00006" "JAG1_000399" "g.10639228dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10658580dup" "" "pathogenic" "" "0000484695" "0" "90" "20" "10622432" "10622432" "dup" "0" "00006" "JAG1_000260" "g.10622432dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641784dup" "" "pathogenic" "" "0000484696" "0" "90" "20" "10653466" "10653470" "delins" "0" "00006" "JAG1_000121" "g.10653466_10653470delinsAAG" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10672818_10672822delinsAAG" "" "pathogenic" "" "0000484697" "0" "90" "20" "10622174" "10622174" "del" "0" "00006" "JAG1_000238" "g.10622174del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641526del" "" "pathogenic" "" "0000484698" "0" "90" "20" "10629202" "10629203" "del" "0" "00006" "JAG1_000330" "g.10629202_10629203del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10648554_10648555del" "" "pathogenic" "" "0000484699" "0" "90" "20" "10630276" "10630276" "del" "0" "00006" "JAG1_000344" "g.10630276del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10649628del" "" "pathogenic" "" "0000484700" "0" "90" "20" "10621886" "10621886" "dup" "0" "00006" "JAG1_000231" "g.10621886dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641238dup" "" "pathogenic" "" "0000484701" "0" "90" "20" "10620600" "10620600" "del" "0" "00006" "JAG1_000199" "g.10620600del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10639952del" "" "pathogenic" "" "0000484702" "0" "90" "20" "10622180" "10622180" "del" "0" "00006" "JAG1_000239" "g.10622180del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641532del" "" "pathogenic" "" "0000484703" "0" "90" "20" "10653584" "10653597" "del" "0" "00006" "JAG1_000130" "g.10653584_10653597del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10672936_10672949del" "" "pathogenic" "" "0000484704" "0" "90" "20" "10622501" "10622501" "subst" "0.0640936" "00006" "JAG1_000028" "g.10622501G>C" "" "{PMID:Liu 2007:17241866}" "" "C2612G" "" "Germline" "" "" "0" "" "" "g.10641853G>C" "" "likely pathogenic (dominant)" "" "0000484705" "21" "90" "20" "10628713" "10628716" "del" "0" "00006" "JAG1_000327" "g.10628713_10628716del" "" "{PMID:Jung 2007:17414143}" "" "delGCCC" "" "Germline" "yes" "" "0" "" "" "g.10648065_10648068del" "" "pathogenic (dominant)" "" "0000484706" "0" "90" "20" "10644643" "10644643" "subst" "0" "00006" "JAG1_000417" "g.10644643A>C" "" "{PMID:Bourdeaut 2008:17584876}" "" "" "" "Germline" "" "" "0" "" "" "g.10663995A>C" "" "pathogenic" "" "0000484712" "11" "90" "20" "10629717" "10629717" "dup" "0" "00006" "JAG1_000339" "g.10629717dup" "" "{PMID:El-Rassy 2008:18266235}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10649069dup" "" "pathogenic" "" "0000484713" "0" "90" "20" "10653501" "10653501" "subst" "0" "00006" "JAG1_000428" "g.10653501G>A" "" "{PMID:Al-Gazali 2010:20437613}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672853G>A" "" "pathogenic (dominant)" "" "0000484714" "0" "90" "20" "10621431" "10621435" "dup" "0" "00006" "JAG1_000200" "g.10621431_10621435dup" "" "{PMID:Wang 2010:20632836}" "" "3199_3120insAACAG" "" "Germline" "" "" "0" "" "" "g.10640783_10640787dup" "" "pathogenic (dominant)" "" "0000484715" "0" "90" "20" "10653371" "10653371" "subst" "0" "00006" "JAG1_000424" "g.10653371A>G" "" "{PMID:Conidi 2008:18846679}" "" "" "" "Germline" "" "" "0" "" "" "g.10672723A>G" "" "pathogenic (dominant)" "" "0000484716" "0" "90" "20" "10620514" "10620514" "subst" "2.84666E-5" "00006" "JAG1_000196" "g.10620514G>A" "" "{PMID:Marchetti 2009:19694043}" "" "" "" "Germline" "" "" "0" "" "" "g.10639866G>A" "" "pathogenic (dominant)" "" "0000484717" "0" "90" "20" "10626011" "10626011" "subst" "0" "00006" "JAG1_000294" "g.10626011G>T" "" "{PMID:Marchetti 2009:19694036}" "" "" "" "Germline" "" "" "0" "" "" "g.10645363G>T" "" "pathogenic (dominant)" "" "0000484718" "0" "90" "20" "10622458" "10622458" "subst" "0" "00006" "JAG1_000262" "g.10622458G>T" "" "{PMID:Marchetti 2009:19694039}" "" "" "" "Germline" "" "" "0" "" "" "g.10641810G>T" "" "pathogenic (dominant)" "" "0000484719" "0" "90" "20" "10633232" "10633232" "subst" "0" "00006" "JAG1_000383" "g.10633232C>T" "" "{PMID:Conidi 2008:18846680}" "" "" "" "Germline" "" "" "0" "" "" "g.10652584C>T" "" "pathogenic (dominant)" "" "0000484720" "0" "90" "20" "10622473" "10622473" "subst" "0" "00006" "JAG1_000264" "g.10622473A>T" "" "{PMID:Marchetti 2009:19694044}" "" "" "" "Germline" "" "" "0" "" "" "g.10641825A>T" "" "pathogenic (dominant)" "" "0000484721" "0" "90" "20" "10627752" "10627752" "subst" "0" "00006" "JAG1_000741" "g.10627752C>T" "" "{PMID:Marchetti 2009:19694046}" "" "" "" "Germline" "" "" "0" "" "" "g.10647104C>T" "" "pathogenic (dominant)" "" "0000484722" "0" "90" "20" "10653347" "10653347" "subst" "0" "00006" "JAG1_000740" "g.10653347A>G" "" "{PMID:Marchetti 2009:19694046}" "" "" "" "Germline" "" "" "0" "" "" "g.10672699A>G" "" "pathogenic (dominant)" "" "0000484723" "0" "90" "20" "10632823" "10632825" "del" "0" "00006" "JAG1_000366" "g.10632823_10632825del" "" "{PMID:Marchetti 2009:19694051}" "" "959_961delATC" "" "Germline" "" "" "0" "" "" "g.10652175_10652177del" "" "pathogenic (dominant)" "" "0000484724" "0" "90" "20" "10632871" "10632871" "dup" "0" "00006" "JAG1_000369" "g.10632871dup" "" "{PMID:Marchetti 2009:19694048}" "" "" "" "Germline" "" "" "0" "" "" "g.10652223dup" "" "pathogenic (dominant)" "" "0000484725" "0" "90" "20" "10633172" "10633172" "del" "0" "00006" "JAG1_000376" "g.10633172del" "" "{PMID:Marchetti 2009:19694053}" "" "" "" "Germline" "" "" "0" "" "" "g.10652524del" "" "pathogenic (dominant)" "" "0000484726" "0" "90" "20" "10633115" "10633115" "del" "0" "00006" "JAG1_000371" "g.10633115del" "" "{PMID:Marchetti 2009:19694056}" "" "" "" "Germline" "" "" "0" "" "" "g.10652467del" "" "pathogenic (dominant)" "" "0000484727" "0" "90" "20" "10632304" "10632305" "del" "0" "00006" "JAG1_000358" "g.10632304_10632305del" "" "{PMID:Marchetti 2009:19694054}" "" "" "" "Germline" "" "" "0" "" "" "g.10651656_10651657del" "" "pathogenic (dominant)" "" "0000484728" "0" "90" "20" "10653365" "10653365" "dup" "0" "00006" "JAG1_000742" "g.10653365dup" "" "{PMID:Marchetti 2009:19694049}" "" "" "" "Germline" "" "" "0" "" "" "g.10672717dup" "" "pathogenic (dominant)" "" "0000484729" "0" "90" "20" "10622252" "10622256" "del" "0" "00006" "JAG1_000248" "g.10622252_10622256del" "" "{PMID:Marchetti 2009:19694053}" "" "" "" "Germline" "" "" "0" "" "" "g.10641604_10641608del" "" "pathogenic (dominant)" "" "0000484730" "0" "90" "20" "10625903" "10625903" "dup" "0" "00006" "JAG1_000291" "g.10625903dup" "" "{PMID:Ellison 2009:19693994}" "" "" "" "Germline" "" "" "0" "" "" "g.10645255dup" "" "pathogenic (dominant)" "" "0000484731" "0" "90" "20" "10627592" "10627592" "dup" "0" "00006" "JAG1_000310" "g.10627592dup" "" "{PMID:Glaeser 2005:15988824}" "" "" "" "Germline" "" "" "0" "" "" "g.10646944dup" "" "pathogenic (dominant)" "" "0000484732" "0" "90" "20" "10621802" "10621802" "del" "0" "00006" "JAG1_000221" "g.10621802del" "" "{PMID:Marchetti 2009:19694051}" "" "" "" "Germline" "" "" "0" "" "" "g.10641154del" "" "pathogenic (dominant)" "" "0000484733" "0" "90" "20" "10625513" "10625523" "del" "0" "00006" "JAG1_000278" "g.10625513_10625523del" "" "{PMID:Marchetti 2009:19694055}" "" "" "" "Germline" "" "" "0" "" "" "g.10644865_10644875del" "" "pathogenic (dominant)" "" "0000484734" "0" "90" "20" "10629314" "10629314" "dup" "0" "00006" "JAG1_000336" "g.10629314dup" "" "{PMID:Conidi 2008:18846686}" "" "" "" "Germline" "" "" "0" "" "" "g.10648666dup" "" "pathogenic (dominant)" "" "0000484735" "0" "90" "20" "10632823" "10632823" "dup" "0" "00006" "JAG1_000365" "g.10632823dup" "" "{PMID:Marchetti 2009:19694048}" "" "" "" "Germline" "" "" "0" "" "" "g.10652175dup" "" "pathogenic (dominant)" "" "0000484736" "0" "90" "20" "10623200" "10623201" "dup" "0" "00006" "JAG1_000187" "g.10623200_10623201dup" "" "{PMID:Rauch 2010:19948535}" "" "2508_2509insTG" "" "Germline" "" "" "0" "" "" "g.10642552_10642553dup" "" "pathogenic (dominant)" "" "0000484737" "0" "90" "20" "10620165" "10620165" "subst" "5.2794E-5" "00006" "JAG1_000193" "g.10620165C>T" "" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Germline" "" "rs138007561" "0" "" "" "g.10639517C>T" "" "pathogenic" "" "0000484738" "0" "90" "20" "10622501" "10622501" "subst" "0.0640936" "00006" "JAG1_000028" "g.10622501G>C" "" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Germline" "" "rs35761929" "0" "" "" "g.10641853G>C" "" "pathogenic" "" "0000484739" "0" "90" "20" "10653542" "10653542" "subst" "0" "00006" "JAG1_000432" "g.10653542T>A" "" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Germline" "" "" "0" "" "" "g.10672894T>A" "" "pathogenic" "" "0000484740" "0" "90" "20" "10639202" "10639202" "subst" "0" "00006" "JAG1_000397" "g.10639202C>T" "" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Germline" "" "" "0" "" "" "g.10658554C>T" "" "pathogenic" "" "0000484741" "0" "90" "20" "10622300" "10622300" "subst" "0" "00006" "JAG1_000255" "g.10622300G>C" "" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Germline" "" "" "0" "" "" "g.10641652G>C" "" "pathogenic" "" "0000484742" "0" "90" "20" "10653603" "10653603" "subst" "0.000632364" "00006" "JAG1_000437" "g.10653603C>A" "" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Germline" "" "" "0" "" "" "g.10672955C>A" "" "pathogenic" "" "0000484743" "0" "90" "20" "10626049" "10626049" "subst" "0" "00006" "JAG1_000300" "g.10626049A>C" "" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Germline" "" "" "0" "" "" "g.10645401A>C" "" "pathogenic" "" "0000484744" "0" "90" "20" "10622262" "10622262" "subst" "0" "00006" "JAG1_000250" "g.10622262A>G" "" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Germline" "" "" "0" "" "" "g.10641614A>G" "" "pathogenic" "" "0000484745" "0" "90" "20" "10653579" "10653579" "subst" "0" "00006" "JAG1_000434" "g.10653579T>C" "" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Germline" "" "" "0" "" "" "g.10672931T>C" "" "pathogenic" "" "0000484746" "1" "50" "20" "10639543" "10639543" "subst" "0" "00006" "JAG1_000188" "g.10639543G>A" "" "{PMID:Kung 2010:20096396}" "" "" "associated with high BMD (P=5.27x10(-8)) for lumbar spine and (P=4.15x10(-5)) for femoral neck, low risk of osteoporotic fracture (P=0.009, OR=0.7, 95%CI 0.57-0.93)" "Germline" "" "rs2273061" "0" "" "" "g.10658895G>A" "" "association" "" "0000484747" "0" "90" "20" "10620546" "10620546" "subst" "0" "00006" "JAG1_000197" "g.10620546A>T" "" "{PMID:Matte 2010:20683201}" "" "" "" "Germline" "" "" "0" "" "" "g.10639898A>T" "" "likely pathogenic (dominant)" "" "0000484748" "0" "90" "20" "10637048" "10637048" "subst" "0" "00006" "JAG1_000389" "g.10637048G>T" "" "{PMID:Matte 2010:20683201}" "" "" "" "Germline" "" "" "0" "" "" "g.10656400G>T" "" "likely pathogenic (dominant)" "" "0000484749" "0" "90" "20" "10637100" "10637100" "subst" "0" "00006" "JAG1_000392" "g.10637100C>T" "" "{PMID:Le Caignec 2002:12022040}" "" "" "" "Germline" "" "" "0" "" "" "g.10656452C>T" "" "pathogenic" "" "0000484750" "0" "90" "20" "10626627" "10626627" "subst" "0" "00006" "JAG1_000305" "g.10626627C>G" "" "{PMID:Bauer 2010:20437614}" "" "" "" "Germline" "" "" "0" "" "" "g.10645979C>G" "" "pathogenic (dominant)" "" "0000484751" "0" "90" "20" "10633181" "10633181" "subst" "0" "00006" "JAG1_000377" "g.10633181C>T" "" "{PMID:Eldadah 2001:11152664}" "" "" "" "Germline" "" "rs28939668" "0" "" "" "g.10652533C>T" "" "pathogenic" "" "0000484752" "0" "90" "20" "10620491" "10620491" "subst" "4.06167E-6" "00006" "JAG1_000195" "g.10620491G>C" "" "{PMID:Bauer 2010:20437614}" "" "" "" "Germline" "" "" "0" "" "" "g.10639843G>C" "" "pathogenic (dominant)" "" "0000484753" "0" "90" "20" "10624455" "10624455" "subst" "4.0619E-6" "00006" "JAG1_000274" "g.10624455G>A" "" "{PMID:Bauer 2010:20437614}" "" "" "" "Germline" "" "" "0" "" "" "g.10643807G>A" "" "pathogenic (dominant)" "" "0000484754" "0" "90" "20" "10644634" "10644635" "dup" "0" "00006" "JAG1_000416" "g.10644634_10644635dup" "" "{PMID:Bauer 2010:20437614}" "" "414_415dupGT" "" "Germline" "" "" "0" "" "" "g.10663986_10663987dup" "" "pathogenic (dominant)" "" "0000484755" "0" "70" "20" "10632860" "10632860" "subst" "3.65595E-5" "00006" "JAG1_000368" "g.10632860C>G" "" "{PMID:Guida 2011:22040217}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652212C>G" "" "likely pathogenic (dominant)" "" "0000484756" "0" "90" "20" "10620202" "10620202" "dup" "0" "00006" "JAG1_000194" "g.10620202dup" "" "{PMID:Glaeser 2006:17128462}" "" "" "" "Germline" "" "" "0" "" "" "g.10639554dup" "" "pathogenic (dominant)" "" "0000484757" "0" "90" "20" "10621785" "10621786" "dup" "0" "00006" "JAG1_000215" "g.10621785_10621786dup" "" "{PMID:Glaeser 2006:17128462}" "" "" "" "Germline" "" "" "0" "" "" "g.10641137_10641138dup" "" "pathogenic (dominant)" "" "0000484758" "0" "90" "20" "10633188" "10633188" "subst" "0" "00006" "JAG1_000189" "g.10633188C>A" "1/84 cases TOF" "{PMID:Kola 2011:21893051}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652540C>A" "" "pathogenic" "" "0000484759" "0" "90" "20" "10633168" "10633168" "subst" "0" "00006" "JAG1_000190" "g.10633168C>A" "1/84 cases TOF" "{PMID:Kola 2011:21893051}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652520C>A" "" "pathogenic" "" "0000484760" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Krantz 1998:9585603}" "" "2531del4" "" "De novo" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000484761" "21" "90" "20" "10639116" "10639117" "del" "0" "00006" "JAG1_000158" "g.10639116_10639117del" "" "{PMID:Krantz 1998:9585603}" "" "1104delAG" "" "Germline" "" "" "0" "" "" "g.10658468_10658469del" "" "pathogenic (dominant)" "" "0000484762" "21" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Krantz 1998:9585603}" "" "2535del4" "" "Germline" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000484763" "11" "90" "20" "10628672" "10628672" "del" "0" "00006" "JAG1_000159" "g.10628672del" "" "{PMID:Krantz 1998:9585603}" "" "2066delC" "" "Germline" "" "" "0" "" "" "g.10648024del" "" "pathogenic" "" "0000484764" "21" "90" "20" "10622473" "10622474" "del" "0" "00006" "JAG1_000152" "g.10622473_10622474del" "" "{PMID:Krantz 1998:9585603}" "" "3052delGT" "" "Germline" "" "" "0" "" "" "g.10641825_10641826del" "" "pathogenic" "" "0000484765" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Onouchi 1999:10429362}" "" "" "" "De novo" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000484766" "11" "90" "20" "10622335" "10622336" "ins" "0" "00006" "JAG1_000181" "g.10622335_10622336insN[5]" "" "{PMID:Krantz 1998:9585603}" "" "3102ins5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000484767" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Jurkiewicz 2005:15712272}" "" "2122_2125delCAGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000484768" "0" "90" "20" "10633114" "10633114" "subst" "0" "00006" "JAG1_000155" "g.10633114A>C" "" "{PMID:Krantz 1998:9585603}" "" "IVS6 1329>2T>G" "" "De novo" "" "" "0" "" "" "g.10652466A>C" "" "pathogenic" "" "0000484769" "11" "90" "20" "10637098" "10637098" "subst" "0" "00006" "JAG1_000081" "g.10637098G>A" "" "{PMID:Yuan 1998:9700188}" "" "1162C>T" "" "Germline" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic" "" "0000484770" "0" "90" "20" "10637098" "10637098" "subst" "0" "00006" "JAG1_000081" "g.10637098G>A" "" "{PMID:Yuan 1998:9700188}" "" "1162C>T" "" "De novo" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic" "" "0000484772" "0" "90" "20" "10633237" "10633237" "subst" "0" "00006" "JAG1_000191" "g.10633237G>T" "1/84 cases TOF" "{PMID:Kola 2011:21893051}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652589G>T" "" "pathogenic" "" "0000484773" "0" "50" "20" "10633141" "10633141" "subst" "0" "00006" "JAG1_000192" "g.10633141G>A" "1/84 cases TOF" "{PMID:Kola 2011:21893051}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652493G>A" "" "VUS" "" "0000484774" "0" "90" "20" "10622214" "10622214" "subst" "0.00192595" "00006" "JAG1_000020" "g.10622214C>T" "" "{PMID:Rauch 2010:19948535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641566C>T" "" "pathogenic" "" "0000484775" "0" "90" "20" "10644611" "10644611" "subst" "0" "00006" "JAG1_000093" "g.10644611G>A" "" "{PMID:Rauch 2010:19948535}" "" "" "parents not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.10663963G>A" "" "pathogenic" "" "0000487109" "0" "70" "20" "10644649" "10644649" "subst" "0" "03298" "JAG1_000449" "g.10644649A>G" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10664001A>G" "" "VUS" "" "0000569028" "0" "30" "20" "10620138" "10620138" "subst" "7.30994E-5" "02330" "JAG1_000450" "g.10620138G>A" "" "" "" "JAG1(NM_000214.3):c.*8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639490G>A" "" "likely benign" "" "0000569029" "0" "70" "20" "10620250" "10620250" "dup" "0" "01804" "JAG1_000451" "g.10620250dup" "" "" "" "JAG1(NM_000214.2):c.3558dup (p.(Asn1187GlnfsTer42))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639602dup" "" "likely pathogenic" "" "0000569030" "0" "30" "20" "10620273" "10620273" "subst" "8.1215E-6" "01804" "JAG1_000452" "g.10620273G>A" "" "" "" "JAG1(NM_000214.2):c.3530C>T (p.(Thr1177Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639625G>A" "" "likely benign" "" "0000569031" "0" "10" "20" "10620275" "10620275" "subst" "0.242743" "02330" "JAG1_000002" "g.10620275G>A" "" "" "" "JAG1(NM_000214.3):c.3528C>T (p.Y1176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639627G>A" "" "benign" "" "0000569032" "0" "10" "20" "10620275" "10620275" "subst" "0.242743" "02327" "JAG1_000002" "g.10620275G>A" "" "" "" "JAG1(NM_000214.3):c.3528C>T (p.Y1176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639627G>A" "" "benign" "" "0000569033" "0" "30" "20" "10620323" "10620323" "subst" "0" "02327" "JAG1_000453" "g.10620323G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639675G>A" "" "likely benign" "" "0000569034" "0" "30" "20" "10620336" "10620336" "subst" "6.90344E-5" "02330" "JAG1_000454" "g.10620336A>G" "" "" "" "JAG1(NM_000214.3):c.3467T>C (p.V1156A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639688A>G" "" "likely benign" "" "0000569035" "0" "50" "20" "10620336" "10620336" "subst" "6.90344E-5" "02326" "JAG1_000454" "g.10620336A>G" "" "" "" "JAG1(NM_000214.3):c.3467T>C (p.V1156A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639688A>G" "" "VUS" "" "0000569036" "0" "10" "20" "10620386" "10620386" "subst" "0.651153" "02330" "JAG1_000007" "g.10620386A>G" "" "" "" "JAG1(NM_000214.3):c.3417T>C (p.Y1139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639738A>G" "" "benign" "" "0000569037" "0" "10" "20" "10620386" "10620386" "subst" "0.651153" "02327" "JAG1_000007" "g.10620386A>G" "" "" "" "JAG1(NM_000214.3):c.3417T>C (p.Y1139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639738A>G" "" "benign" "" "0000569038" "0" "50" "20" "10620514" "10620514" "subst" "2.84666E-5" "02327" "JAG1_000196" "g.10620514G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639866G>A" "" "VUS" "" "0000569039" "0" "50" "20" "10620516" "10620524" "dup" "0" "02330" "JAG1_000455" "g.10620516_10620524dup" "" "" "" "JAG1(NM_000214.3):c.3287_3295dupGGCGGAAGC (p.R1096_K1098dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639868_10639876dup" "" "VUS" "" "0000569040" "0" "10" "20" "10621922" "10621922" "subst" "0.00491019" "02327" "JAG1_000015" "g.10621922T>C" "" "" "" "JAG1(NM_000214.3):c.2917-30A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10641274T>C" "" "benign" "" "0000569042" "0" "90" "20" "10622126" "10622126" "dup" "0" "01943" "JAG1_000234" "g.10622126dup" "" "" "" "JAG1(NM_000214.3):c.2898dupC (p.K967Qfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10641478dup" "" "pathogenic" "" "0000569043" "0" "30" "20" "10622214" "10622214" "subst" "0.00192595" "02330" "JAG1_000020" "g.10622214C>T" "" "" "" "JAG1(NM_000214.2):c.2810G>A (p.(Arg937Gln)), JAG1(NM_000214.3):c.2810G>A (p.R937Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10641566C>T" "" "likely benign" "" "0000569044" "0" "30" "20" "10622214" "10622214" "subst" "0.00192595" "02325" "JAG1_000020" "g.10622214C>T" "" "" "" "JAG1(NM_000214.2):c.2810G>A (p.(Arg937Gln)), JAG1(NM_000214.3):c.2810G>A (p.R937Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10641566C>T" "" "likely benign" "" "0000569045" "0" "50" "20" "10622257" "10622257" "subst" "2.43918E-5" "02326" "JAG1_000457" "g.10622257C>T" "" "" "" "JAG1(NM_000214.3):c.2767G>A (p.D923N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10641609C>T" "" "VUS" "" "0000569046" "0" "10" "20" "10622501" "10622501" "subst" "0.0640936" "02330" "JAG1_000028" "g.10622501G>C" "" "" "" "JAG1(NM_000214.3):c.2612C>G (p.P871R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10641853G>C" "" "benign" "" "0000569047" "0" "10" "20" "10622501" "10622501" "subst" "0.0640936" "02327" "JAG1_000028" "g.10622501G>C" "" "" "" "JAG1(NM_000214.3):c.2612C>G (p.P871R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10641853G>C" "" "benign" "" "0000569048" "0" "10" "20" "10623266" "10623266" "subst" "0.00684184" "02330" "JAG1_000032" "g.10623266T>G" "" "" "" "JAG1(NM_000214.3):c.2459-17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10642618T>G" "" "benign" "" "0000569049" "0" "10" "20" "10624502" "10624502" "subst" "0.0222216" "02330" "JAG1_000037" "g.10624502G>A" "" "" "" "JAG1(NM_000214.3):c.2382C>T (p.S794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10643854G>A" "" "benign" "" "0000569050" "0" "50" "20" "10625624" "10625624" "subst" "0.000921812" "01943" "JAG1_000458" "g.10625624C>T" "" "" "" "JAG1(NM_000214.3):c.2231G>A (p.R744Q, p.(Arg744Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10644976C>T" "" "VUS" "" "0000569052" "0" "10" "20" "10625774" "10625774" "subst" "0.00179913" "02330" "JAG1_000042" "g.10625774G>A" "" "" "" "JAG1(NM_000214.3):c.2227+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10645126G>A" "" "benign" "" "0000569053" "0" "10" "20" "10625804" "10625804" "subst" "0.111844" "02330" "JAG1_000460" "g.10625804T>G" "" "" "" "JAG1(NM_000214.3):c.2214A>C (p.T738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10645156T>G" "" "benign" "" "0000569054" "0" "10" "20" "10625804" "10625804" "subst" "0.111844" "01943" "JAG1_000460" "g.10625804T>G" "" "" "" "JAG1(NM_000214.3):c.2214A>C (p.T738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10645156T>G" "" "benign" "" "0000569055" "0" "30" "20" "10625804" "10625804" "subst" "0.111844" "02327" "JAG1_000460" "g.10625804T>G" "" "" "" "JAG1(NM_000214.3):c.2214A>C (p.T738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10645156T>G" "" "likely benign" "" "0000569056" "0" "90" "20" "10625897" "10625900" "del" "0" "02327" "JAG1_000045" "g.10625897_10625900del" "" "" "" "JAG1(NM_000214.3):c.2122_2125delCAGT (p.Q708Vfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10645249_10645252del" "" "pathogenic" "" "0000569057" "0" "10" "20" "10625991" "10625991" "subst" "4.06062E-6" "02330" "JAG1_000461" "g.10625991A>C" "" "" "" "JAG1(NM_000214.3):c.2113+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10645343A>C" "" "benign" "" "0000569058" "0" "50" "20" "10626041" "10626041" "subst" "0" "02327" "JAG1_000462" "g.10626041G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10645393G>C" "" "VUS" "" "0000569059" "0" "50" "20" "10626041" "10626041" "subst" "0" "01943" "JAG1_000463" "g.10626041G>T" "" "" "" "JAG1(NM_000214.2):c.2076C>A (p.(Asp692Glu)), JAG1(NM_000214.3):c.2076C>A (p.D692E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10645393G>T" "" "VUS" "" "0000569060" "0" "50" "20" "10626041" "10626041" "subst" "0" "02327" "JAG1_000463" "g.10626041G>T" "" "" "" "JAG1(NM_000214.2):c.2076C>A (p.(Asp692Glu)), JAG1(NM_000214.3):c.2076C>A (p.D692E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10645393G>T" "" "VUS" "" "0000569061" "0" "30" "20" "10626068" "10626068" "subst" "1.21966E-5" "01943" "JAG1_000464" "g.10626068G>A" "" "" "" "JAG1(NM_000214.3):c.2049C>T (p.R683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10645420G>A" "" "likely benign" "" "0000569062" "0" "50" "20" "10626070" "10626070" "subst" "1.62629E-5" "01943" "JAG1_000465" "g.10626070G>A" "" "" "" "JAG1(NM_000214.3):c.2047C>T (p.R683C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10645422G>A" "" "VUS" "" "0000569063" "0" "30" "20" "10626698" "10626698" "subst" "0.000393893" "02327" "JAG1_000466" "g.10626698G>A" "" "" "" "JAG1(NM_000214.3):c.1920C>T (p.N640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10646050G>A" "" "likely benign" "" "0000569064" "0" "10" "20" "10627606" "10627606" "subst" "4.06058E-5" "02330" "JAG1_000467" "g.10627606C>T" "" "" "" "JAG1(NM_000214.3):c.1866G>A (p.T622=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10646958C>T" "" "benign" "" "0000569065" "0" "70" "20" "10628658" "10628658" "subst" "0" "02327" "JAG1_000468" "g.10628658C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10648010C>T" "" "likely pathogenic" "" "0000569066" "0" "50" "20" "10628673" "10628673" "subst" "0.000227444" "02327" "JAG1_000469" "g.10628673G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10648025G>A" "" "VUS" "" "0000569067" "0" "30" "20" "10629305" "10629305" "subst" "0" "02327" "JAG1_000470" "g.10629305G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10648657G>A" "" "likely benign" "" "0000569068" "0" "10" "20" "10629327" "10629327" "subst" "0.00136871" "02330" "JAG1_000063" "g.10629327G>A" "" "" "" "JAG1(NM_000214.3):c.1439C>T (p.A480V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10648679G>A" "" "benign" "" "0000569069" "0" "90" "20" "10629708" "10629708" "subst" "0" "01943" "JAG1_000177" "g.10629708C>A" "" "" "" "JAG1(NM_000214.3):c.1395+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10649060C>A" "" "pathogenic" "" "0000569070" "0" "90" "20" "10629756" "10629756" "subst" "0" "01943" "JAG1_000471" "g.10629756C>T" "" "" "" "JAG1(NM_000214.3):c.1349-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10649108C>T" "" "pathogenic" "" "0000569071" "0" "10" "20" "10630198" "10630198" "subst" "2.03079E-5" "02330" "JAG1_000472" "g.10630198G>A" "" "" "" "JAG1(NM_000214.3):c.1320C>T (p.P440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10649550G>A" "" "benign" "" "0000569072" "0" "10" "20" "10630356" "10630356" "dup" "0" "01943" "JAG1_000473" "g.10630356dup" "" "" "" "JAG1(NM_000214.3):c.1235-72dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10649708dup" "" "benign" "" "0000569073" "0" "30" "20" "10630929" "10630929" "subst" "0" "02327" "JAG1_000474" "g.10630929G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10650281G>A" "" "likely benign" "" "0000569074" "0" "30" "20" "10632234" "10632234" "subst" "9.3585E-5" "02326" "JAG1_000069" "g.10632234G>A" "" "" "" "JAG1(NM_000214.2):c.1115C>T (p.(Ser372Phe)), JAG1(NM_000214.3):c.1115C>T (p.S372F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10651586G>A" "" "likely benign" "" "0000569075" "0" "50" "20" "10632247" "10632247" "subst" "2.4399E-5" "01943" "JAG1_000475" "g.10632247C>T" "" "" "" "JAG1(NM_000214.3):c.1102G>A (p.G368S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10651599C>T" "" "VUS" "" "0000569076" "0" "30" "20" "10632283" "10632283" "subst" "0" "01943" "JAG1_000476" "g.10632283G>C" "" "" "" "JAG1(NM_000214.3):c.1066C>G (p.L356V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10651635G>C" "" "likely benign" "" "0000569077" "0" "30" "20" "10632793" "10632793" "subst" "0" "02327" "JAG1_000477" "g.10632793G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10652145G>T" "" "likely benign" "" "0000569078" "0" "10" "20" "10632861" "10632861" "subst" "0.0373325" "02330" "JAG1_000478" "g.10632861G>A" "" "" "" "JAG1(NM_000214.3):c.924C>T (p.N308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10652213G>A" "" "benign" "" "0000569079" "0" "30" "20" "10632861" "10632861" "subst" "0.0373325" "02327" "JAG1_000478" "g.10632861G>A" "" "" "" "JAG1(NM_000214.3):c.924C>T (p.N308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10652213G>A" "" "likely benign" "" "0000569080" "0" "10" "20" "10632876" "10632876" "subst" "0.00105232" "02326" "JAG1_000072" "g.10632876A>G" "" "" "" "JAG1(NM_000214.3):c.909T>C (p.H303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10652228A>G" "" "benign" "" "0000569081" "0" "90" "20" "10632900" "10632900" "subst" "0" "02325" "JAG1_000479" "g.10632900T>C" "" "" "" "JAG1(NM_000214.3):c.887-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10652252T>C" "" "pathogenic" "" "0000569082" "0" "50" "20" "10633195" "10633195" "subst" "1.21873E-5" "02327" "JAG1_000480" "g.10633195C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10652547C>T" "" "VUS" "" "0000569083" "0" "10" "20" "10633237" "10633237" "subst" "0.456237" "02330" "JAG1_000078" "g.10633237G>A" "" "" "" "JAG1(NM_000214.3):c.765C>T (p.Y255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10652589G>A" "" "benign" "" "0000569084" "0" "30" "20" "10633237" "10633237" "subst" "0.456237" "02327" "JAG1_000078" "g.10633237G>A" "" "" "" "JAG1(NM_000214.3):c.765C>T (p.Y255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10652589G>A" "" "likely benign" "" "0000569085" "0" "10" "20" "10637057" "10637057" "subst" "0.0726782" "02330" "JAG1_000079" "g.10637057T>C" "" "" "" "JAG1(NM_000214.3):c.744A>G (p.P248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10656409T>C" "" "benign" "" "0000569086" "0" "10" "20" "10637057" "10637057" "subst" "0.0726782" "02327" "JAG1_000079" "g.10637057T>C" "" "" "" "JAG1(NM_000214.3):c.744A>G (p.P248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10656409T>C" "" "benign" "" "0000569087" "0" "50" "20" "10639175" "10639175" "subst" "0" "01943" "JAG1_000106" "g.10639175C>T" "" "" "" "JAG1(NM_000214.3):c.635G>A (p.C212Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10658527C>T" "" "VUS" "" "0000569088" "0" "90" "20" "10639210" "10639210" "subst" "0" "02325" "JAG1_000481" "g.10639210G>T" "" "" "" "JAG1(NM_000214.3):c.600C>A (p.C200*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10658562G>T" "" "pathogenic" "" "0000569089" "0" "10" "20" "10639222" "10639222" "subst" "0.10558" "02330" "JAG1_000085" "g.10639222G>A" "" "" "" "JAG1(NM_000214.3):c.588C>T (p.C196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10658574G>A" "" "benign" "" "0000569090" "0" "10" "20" "10639222" "10639222" "subst" "0.10558" "02327" "JAG1_000085" "g.10639222G>A" "" "" "" "JAG1(NM_000214.3):c.588C>T (p.C196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10658574G>A" "" "benign" "" "0000569091" "0" "90" "20" "10639260" "10639260" "subst" "0" "02325" "JAG1_000164" "g.10639260G>A" "" "" "" "JAG1(NM_000214.3):c.550C>T (p.R184C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10658612G>A" "" "pathogenic" "" "0000569092" "0" "10" "20" "10639385" "10639385" "subst" "0.439159" "02330" "JAG1_000482" "g.10639385A>G" "" "" "" "JAG1(NM_000214.3):c.440-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10658737A>G" "" "benign" "" "0000569093" "0" "10" "20" "10639385" "10639385" "subst" "0.439159" "02327" "JAG1_000482" "g.10639385A>G" "" "" "" "JAG1(NM_000214.3):c.440-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10658737A>G" "" "benign" "" "0000569094" "0" "10" "20" "10644614" "10644614" "subst" "0.00306188" "02330" "JAG1_000094" "g.10644614C>T" "" "" "" "JAG1(NM_000214.3):c.436G>A (p.V146I, p.(Val146Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10663966C>T" "" "benign" "" "0000569095" "0" "30" "20" "10644614" "10644614" "subst" "0.00306188" "01804" "JAG1_000094" "g.10644614C>T" "" "" "" "JAG1(NM_000214.3):c.436G>A (p.V146I, p.(Val146Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10663966C>T" "" "likely benign" "" "0000569096" "0" "30" "20" "10644636" "10644636" "subst" "0.000300486" "02326" "JAG1_000483" "g.10644636C>T" "" "" "" "JAG1(NM_000214.3):c.414G>A (p.A138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10663988C>T" "" "likely benign" "" "0000569097" "0" "70" "20" "10644643" "10644643" "subst" "0" "02327" "JAG1_000095" "g.10644643A>G" "" "" "" "JAG1(NM_000214.3):c.407T>C (p.V136A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10663995A>G" "" "likely pathogenic" "" "0000569098" "0" "90" "20" "10653422" "10653425" "dup" "0" "01943" "JAG1_000484" "g.10653422_10653425dup" "" "" "" "JAG1(NM_000214.3):c.311_314dupGCAA (p.N105Kfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10672774_10672777dup" "" "pathogenic" "" "0000569099" "0" "50" "20" "10653429" "10653429" "subst" "4.07418E-6" "01804" "JAG1_000485" "g.10653429C>G" "" "" "" "JAG1(NM_000214.2):c.307G>C (p.(Gly103Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10672781C>G" "" "VUS" "" "0000569100" "0" "10" "20" "10653466" "10653466" "subst" "0.00609995" "02330" "JAG1_000100" "g.10653466C>A" "" "" "" "JAG1(NM_000214.3):c.270G>T (p.G90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10672818C>A" "" "benign" "" "0000569101" "0" "10" "20" "10653466" "10653466" "subst" "0.00609995" "02327" "JAG1_000100" "g.10653466C>A" "" "" "" "JAG1(NM_000214.3):c.270G>T (p.G90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10672818C>A" "" "benign" "" "0000569102" "0" "10" "20" "10653469" "10653469" "subst" "0.096008" "02330" "JAG1_000101" "g.10653469C>T" "" "" "" "JAG1(NM_000214.3):c.267G>A (p.G89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10672821C>T" "" "benign" "" "0000569103" "0" "30" "20" "10653469" "10653469" "subst" "0.096008" "02327" "JAG1_000101" "g.10653469C>T" "" "" "" "JAG1(NM_000214.3):c.267G>A (p.G89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10672821C>T" "" "likely benign" "" "0000569104" "0" "90" "20" "10653544" "10653544" "dup" "0" "01943" "JAG1_000486" "g.10653544dup" "" "" "" "JAG1(NM_000214.3):c.192dupC (p.K65Qfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10672896dup" "" "pathogenic" "" "0000569105" "0" "30" "20" "10653603" "10653603" "subst" "0.000632364" "02327" "JAG1_000437" "g.10653603C>A" "" "" "" "JAG1(NM_000214.3):c.133G>T (p.V45L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10672955C>A" "" "likely benign" "" "0000579828" "0" "70" "20" "10633200" "10633200" "del" "0" "02950" "JAG1_000487" "g.10633200del" "" "" "" "802delC" "" "De novo" "" "" "0" "" "" "g.10652552del" "" "likely pathogenic" "" "0000593668" "0" "90" "20" "10644637" "10644637" "subst" "0" "03382" "JAG1_000490" "g.10644637G>A" "" "{PMID:Zhang 2019:31273345 }" "" "" "" "Germline" "" "" "0" "" "" "g.10663989G>A" "" "pathogenic" "" "0000593669" "0" "90" "20" "10629351" "10629351" "subst" "8.12249E-5" "03382" "JAG1_000489" "g.10629351C>T" "20/246230" "{PMID:Zhang 2019:31273345 }" "" "" "" "Germline" "" "" "0" "" "" "g.10648703C>T" "" "pathogenic" "" "0000593671" "0" "90" "20" "10622140" "10622140" "subst" "8.53E-5" "03382" "JAG1_000488" "g.10622140T>C" "21/246,190" "{PMID:Zhang 2019:31273345 }" "" "" "" "Germline" "" "" "0" "" "" "g.10641492T>C" "" "pathogenic" "" "0000595165" "0" "50" "20" "10644649" "10644649" "subst" "0" "03298" "JAG1_000449" "g.10644649A>G" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10664001A>G" "" "VUS" "" "0000595166" "0" "90" "20" "10644609" "10644615" "delins" "0" "03298" "JAG1_000610" "g.10644609_10644615delinsCT" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "unconfirmed by cDNA" "Unknown" "" "" "0" "" "" "g.10663961_10663967delinsCT" "" "pathogenic" "" "0000595167" "21" "90" "20" "10644609" "10644612" "del" "0" "03298" "JAG1_000609" "g.10644609_10644612del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "cDNA shows utilization of a cryptic splice donor site at c.436_437 resulting in a frameshift" "Germline" "" "" "0" "" "" "g.10663961_10663964del" "" "pathogenic" "" "0000595168" "0" "90" "20" "10644609" "10644612" "del" "0" "03298" "JAG1_000609" "g.10644609_10644612del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "cDNA shows utilization of a cryptic splice donor site at c.436_437 resulting in a frameshift" "Unknown" "" "" "0" "" "" "g.10663961_10663964del" "" "pathogenic" "" "0000595170" "0" "90" "20" "10644611" "10644611" "subst" "0" "03298" "JAG1_000093" "g.10644611G>A" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10663963G>A" "" "pathogenic" "" "0000595171" "0" "90" "20" "10644611" "10644611" "subst" "0" "03298" "JAG1_000093" "g.10644611G>A" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10663963G>A" "" "pathogenic" "" "0000595172" "0" "90" "20" "10644610" "10644610" "subst" "0" "03298" "JAG1_000611" "g.10644610C>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10663962C>A" "" "pathogenic" "" "0000595173" "0" "90" "20" "10644610" "10644610" "subst" "0" "03298" "JAG1_000092" "g.10644610C>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10663962C>T" "" "pathogenic" "" "0000595174" "0" "90" "20" "10644610" "10644610" "subst" "0" "03298" "JAG1_000092" "g.10644610C>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10663962C>T" "" "pathogenic" "" "0000595175" "0" "90" "20" "10644610" "10644610" "subst" "0" "03298" "JAG1_000092" "g.10644610C>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10663962C>T" "" "pathogenic" "" "0000595176" "0" "90" "20" "10644610" "10644610" "subst" "0" "03298" "JAG1_000092" "g.10644610C>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10663962C>T" "" "pathogenic" "" "0000595177" "0" "90" "20" "10644610" "10644610" "subst" "0" "03298" "JAG1_000612" "g.10644610C>G" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10663962C>G" "" "pathogenic" "" "0000595178" "21" "90" "20" "10644606" "10644606" "subst" "0" "03298" "JAG1_000608" "g.10644606C>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "deletion of exon 3 confirmed by cDNA" "Germline" "" "" "0" "" "" "g.10663958C>T" "" "pathogenic" "" "0000595179" "0" "90" "20" "10644606" "10644606" "subst" "0" "03298" "JAG1_000608" "g.10644606C>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "deletion of exon 3 confirmed by cDNA" "Unknown" "" "" "0" "" "" "g.10663958C>T" "" "pathogenic" "" "0000595180" "0" "90" "20" "10644606" "10644606" "subst" "0" "03298" "JAG1_000608" "g.10644606C>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "deletion of exon 3 confirmed by cDNA" "Unknown" "" "" "0" "" "" "g.10663958C>T" "" "pathogenic" "" "0000595181" "0" "90" "20" "10644605" "10644605" "subst" "0" "03298" "JAG1_000607" "g.10644605A>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10663957A>T" "" "pathogenic" "" "0000595183" "0" "70" "20" "10639347" "10639347" "subst" "0" "03298" "JAG1_000414" "g.10639347C>G" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10658699C>G" "" "likely pathogenic" "" "0000595184" "0" "70" "20" "10639322" "10639322" "subst" "0" "03298" "JAG1_000411" "g.10639322G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658674G>C" "" "likely pathogenic (dominant)" "" "0000595185" "0" "90" "20" "10637098" "10637098" "subst" "0" "03298" "JAG1_000081" "g.10637098G>A" "" "{PMID:Colliton 2001:11180599}" "" "" "Has an affected cousin" "De novo" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic (dominant)" "" "0000595186" "0" "90" "20" "10639296" "10639296" "subst" "0" "03298" "JAG1_000407" "g.10639296G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10658648G>A" "" "pathogenic" "" "0000595187" "21" "90" "20" "10639296" "10639296" "subst" "0" "03298" "JAG1_000407" "g.10639296G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10658648G>A" "" "pathogenic" "" "0000595188" "0" "90" "20" "10639296" "10639296" "subst" "0" "03298" "JAG1_000407" "g.10639296G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10658648G>A" "" "pathogenic" "" "0000595189" "21" "90" "20" "10639296" "10639296" "subst" "0" "03298" "JAG1_000407" "g.10639296G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10658648G>A" "" "pathogenic" "" "0000595190" "0" "90" "20" "10637098" "10637098" "subst" "0" "03298" "JAG1_000081" "g.10637098G>A" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic (dominant)" "" "0000595191" "21" "90" "20" "10639259" "10639259" "subst" "0" "03298" "JAG1_000087" "g.10639259C>T" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic (dominant)" "" "0000595192" "0" "90" "20" "10639260" "10639260" "subst" "0" "03298" "JAG1_000164" "g.10639260G>A" "" "{PMID:Krantz 1998:9585603}" "" "" "" "De novo" "" "" "0" "" "" "g.10658612G>A" "" "pathogenic" "" "0000595193" "0" "90" "20" "10639260" "10639260" "subst" "0" "03298" "JAG1_000164" "g.10639260G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10658612G>A" "" "pathogenic" "" "0000595194" "0" "90" "20" "10639260" "10639260" "subst" "0" "03298" "JAG1_000164" "g.10639260G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10658612G>A" "" "pathogenic" "" "0000595195" "0" "90" "20" "10639259" "10639259" "subst" "0" "03298" "JAG1_000087" "g.10639259C>T" "" "{PMID:Krantz 1998:9585603}, {PMID:Tada 2012:22487239}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic" "" "0000595196" "0" "90" "20" "10639259" "10639259" "subst" "0" "03298" "JAG1_000087" "g.10639259C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic" "" "0000595197" "0" "90" "20" "10639259" "10639259" "subst" "0" "03298" "JAG1_000087" "g.10639259C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic" "" "0000595198" "0" "90" "20" "10639259" "10639259" "subst" "0" "03298" "JAG1_000087" "g.10639259C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic" "" "0000595199" "0" "90" "20" "10639259" "10639259" "subst" "0" "03298" "JAG1_000087" "g.10639259C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic" "" "0000595200" "0" "90" "20" "10639259" "10639259" "subst" "0" "03298" "JAG1_000087" "g.10639259C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic" "" "0000595201" "0" "90" "20" "10639259" "10639259" "subst" "0" "03298" "JAG1_000087" "g.10639259C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic" "" "0000595203" "0" "90" "20" "10639185" "10639185" "del" "0" "03298" "JAG1_000606" "g.10639185del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10658537del" "" "pathogenic" "" "0000595204" "0" "90" "20" "10639149" "10639151" "delins" "0" "03298" "JAG1_000179" "g.10639149_10639151delinsCA" "" "{PMID:Krantz 1998:9585603}" "" "1072GCA>TG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658501_10658503delinsCA" "" "pathogenic" "" "0000595205" "0" "90" "20" "10639124" "10639124" "subst" "0" "03298" "JAG1_000393" "g.10639124C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658476C>T" "" "pathogenic (dominant)" "" "0000595206" "21" "90" "20" "10639116" "10639117" "del" "0" "03298" "JAG1_000158" "g.10639116_10639117del" "" "{PMID:Li 1997:9207788}" "" "1104-1105delAG" "" "Germline" "" "" "0" "" "" "g.10658468_10658469del" "" "pathogenic" "" "0000595207" "0" "90" "20" "10639116" "10639117" "del" "0" "03298" "JAG1_000158" "g.10639116_10639117del" "" "{PMID:Li 1997:9207788}" "" "1104-1105delAG" "" "Germline" "" "" "0" "" "" "g.10658468_10658469del" "" "pathogenic" "" "0000595208" "21" "90" "20" "10639116" "10639117" "del" "0" "03298" "JAG1_000158" "g.10639116_10639117del" "" "{PMID:Li 1997:9207788}" "" "1104-1105delAG" "" "Germline" "" "" "0" "" "" "g.10658468_10658469del" "" "pathogenic" "" "0000595209" "0" "90" "20" "10639116" "10639117" "del" "0" "03298" "JAG1_000158" "g.10639116_10639117del" "" "" "" "1104-1105delAG" "" "Germline" "" "" "0" "" "" "g.10658468_10658469del" "" "pathogenic" "" "0000595210" "0" "90" "20" "10639116" "10639117" "del" "0" "03298" "JAG1_000158" "g.10639116_10639117del" "" "" "" "1104-1105delAG" "" "Germline" "" "" "0" "" "" "g.10658468_10658469del" "" "pathogenic" "" "0000595211" "11" "90" "20" "10639116" "10639117" "del" "0" "03298" "JAG1_000158" "g.10639116_10639117del" "" "" "" "1104-1105delAG" "" "Germline" "" "" "0" "" "" "g.10658468_10658469del" "" "pathogenic" "" "0000595212" "0" "90" "20" "10639116" "10639117" "del" "0" "03298" "JAG1_000158" "g.10639116_10639117del" "" "" "" "1104-1105delAG" "" "Germline" "" "" "0" "" "" "g.10658468_10658469del" "" "pathogenic" "" "0000595213" "0" "70" "20" "10637101" "10637101" "subst" "0" "03298" "JAG1_000604" "g.10637101A>C" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10656453A>C" "" "likely pathogenic" "" "0000595214" "21" "90" "20" "10637100" "10637100" "del" "0" "03298" "JAG1_000603" "g.10637100del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline" "" "" "0" "" "" "g.10656452del" "" "pathogenic" "" "0000595215" "0" "90" "20" "10637100" "10637100" "del" "0" "03298" "JAG1_000603" "g.10637100del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10656452del" "" "pathogenic" "" "0000595216" "0" "90" "20" "10637098" "10637098" "subst" "0" "03298" "JAG1_000081" "g.10637098G>A" "" "{PMID:Krantz 1998:9585603}" "" "R235X" "" "Unknown" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic" "" "0000595217" "0" "90" "20" "10637098" "10637098" "subst" "0" "03298" "JAG1_000081" "g.10637098G>A" "" "" "" "R235X" "" "Unknown" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic" "" "0000595218" "0" "90" "20" "10637098" "10637098" "subst" "0" "03298" "JAG1_000081" "g.10637098G>A" "" "" "" "R235X" "" "Unknown" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic" "" "0000595219" "0" "90" "20" "10637098" "10637098" "subst" "0" "03298" "JAG1_000081" "g.10637098G>A" "" "" "" "R235X" "" "Unknown" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic" "" "0000595220" "0" "90" "20" "10637098" "10637098" "subst" "0" "03298" "JAG1_000081" "g.10637098G>A" "" "" "" "R235X" "" "Unknown" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic" "" "0000595221" "11" "90" "20" "10637098" "10637098" "subst" "0" "03298" "JAG1_000081" "g.10637098G>A" "" "" "" "R235X" "" "Germline" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic" "" "0000595222" "0" "90" "20" "10637098" "10637098" "subst" "0" "03298" "JAG1_000081" "g.10637098G>A" "" "" "" "R235X" "" "Unknown" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic" "" "0000595225" "0" "50" "20" "10637047" "10637047" "subst" "0" "03298" "JAG1_000388" "g.10637047T>C" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10656399T>C" "" "VUS" "" "0000595226" "21" "90" "20" "10637044" "10637044" "subst" "0" "03298" "JAG1_000601" "g.10637044A>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10656396A>T" "" "pathogenic" "" "0000595227" "21" "90" "20" "10637044" "10637044" "subst" "0" "03298" "JAG1_000601" "g.10637044A>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10656396A>T" "" "pathogenic" "" "0000595228" "0" "90" "20" "10637044" "10637044" "subst" "0" "03298" "JAG1_000601" "g.10637044A>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10656396A>T" "" "pathogenic" "" "0000595229" "11" "90" "20" "10637044" "10637045" "dup" "0" "03298" "JAG1_000602" "g.10637044_10637045dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "deletion of exon 5 confirmed by cDNA" "Germline" "" "" "0" "" "" "g.10656396_10656397dup" "" "pathogenic" "" "0000595230" "0" "90" "20" "10637044" "10637045" "dup" "0" "03298" "JAG1_000602" "g.10637044_10637045dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10656396_10656397dup" "" "pathogenic" "" "0000595231" "0" "90" "20" "10633237" "10633237" "subst" "0" "03298" "JAG1_000385" "g.10633237G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652589G>C" "" "pathogenic (dominant)" "" "0000595232" "0" "90" "20" "10633237" "10633237" "subst" "0" "03298" "JAG1_000385" "g.10633237G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10652589G>C" "" "pathogenic (dominant)" "" "0000595234" "21" "90" "20" "10633208" "10633208" "subst" "0" "03298" "JAG1_000600" "g.10633208C>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "Germline" "" "" "0" "" "" "g.10652560C>A" "" "pathogenic" "" "0000595235" "0" "90" "20" "10633208" "10633208" "subst" "0" "03298" "JAG1_000600" "g.10633208C>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "Unknown" "" "" "0" "" "" "g.10652560C>A" "" "pathogenic" "" "0000595236" "0" "90" "20" "10633194" "10633194" "subst" "0" "03298" "JAG1_000599" "g.10633194C>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10652546C>A" "" "pathogenic" "" "0000595238" "11" "90" "20" "10633163" "10633164" "dup" "0" "03298" "JAG1_000598" "g.10633163_10633164dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline" "" "" "0" "" "" "g.10652515_10652516dup" "" "pathogenic" "" "0000595239" "0" "90" "20" "10633163" "10633164" "dup" "0" "03298" "JAG1_000598" "g.10633163_10633164dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10652515_10652516dup" "" "pathogenic" "" "0000595240" "0" "90" "20" "10633163" "10633163" "subst" "0" "03298" "JAG1_000597" "g.10633163C>T" "" "{PMID:Lin 2012:22488849}" "" "" "" "De novo" "" "" "0" "" "" "g.10652515C>T" "" "pathogenic (dominant)" "" "0000595241" "21" "90" "20" "10633131" "10633131" "subst" "0" "03298" "JAG1_000596" "g.10633131G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10652483G>A" "" "pathogenic" "" "0000595242" "0" "90" "20" "10633131" "10633131" "subst" "0" "03298" "JAG1_000596" "g.10633131G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652483G>A" "" "pathogenic" "" "0000595243" "0" "90" "20" "10633115" "10633115" "subst" "0" "03298" "JAG1_000595" "g.10633115C>A" "" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "" "" "Unknown" "" "" "0" "" "" "g.10652467C>A" "" "pathogenic" "" "0000595244" "21" "90" "20" "10633115" "10633115" "subst" "0" "03298" "JAG1_000595" "g.10633115C>A" "" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "" "" "Germline" "" "" "0" "" "" "g.10652467C>A" "" "pathogenic" "" "0000595245" "0" "90" "20" "10633115" "10633115" "subst" "0" "03298" "JAG1_000595" "g.10633115C>A" "" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "" "" "Unknown" "" "" "0" "" "" "g.10652467C>A" "" "pathogenic" "" "0000595246" "21" "90" "20" "10633115" "10633115" "subst" "0" "03298" "JAG1_000595" "g.10633115C>A" "" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "" "" "Germline" "" "" "0" "" "" "g.10652467C>A" "" "pathogenic" "" "0000595247" "0" "90" "20" "10633114" "10633114" "subst" "0" "03298" "JAG1_000155" "g.10633114A>C" "" "{PMID:Oda 1997:9207787}" "" "1345+2T>G" "" "Germline" "" "" "0" "" "" "g.10652466A>C" "" "pathogenic (dominant)" "" "0000595248" "0" "90" "20" "10633114" "10633114" "subst" "0" "03298" "JAG1_000155" "g.10633114A>C" "" "{PMID:Oda 1997:9207787}" "" "1345+2T>G" "" "Germline" "" "" "0" "" "" "g.10652466A>C" "" "pathogenic (dominant)" "" "0000595249" "0" "90" "20" "10632882" "10632882" "dup" "0" "03298" "JAG1_000594" "g.10632882dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10652234dup" "" "pathogenic" "" "0000595251" "0" "90" "20" "10632867" "10632867" "subst" "0" "03298" "JAG1_000161" "g.10632867A>T" "" "{PMID:Krantz 1998:9585603}" "" "C306X" "" "Unknown" "" "" "0" "" "" "g.10652219A>T" "" "pathogenic" "" "0000595253" "0" "90" "20" "10632327" "10632330" "del" "0" "03298" "JAG1_000593" "g.10632327_10632330del" "" "{PMID:Lin 2012:22488849}" "" "1019_1022delGCCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10651679_10651682del" "" "pathogenic (dominant)" "" "0000595254" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Crosnier 1999:10220506}" "" "2539-2538delCAGT" "has an affected cousin" "De novo" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000595255" "0" "90" "20" "10632292" "10632292" "subst" "0" "03298" "JAG1_000357" "g.10632292C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10651644C>A" "" "pathogenic" "" "0000595256" "0" "90" "20" "10632292" "10632292" "subst" "0" "03298" "JAG1_000357" "g.10632292C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10651644C>A" "" "pathogenic" "" "0000595257" "21" "90" "20" "10632292" "10632292" "subst" "0" "03298" "JAG1_000357" "g.10632292C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10651644C>A" "" "pathogenic" "" "0000595258" "0" "90" "20" "10632292" "10632292" "subst" "0" "03298" "JAG1_000357" "g.10632292C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10651644C>A" "" "pathogenic" "" "0000595259" "0" "90" "20" "10630924" "10630924" "dup" "0" "03298" "JAG1_000169" "g.10630924dup" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10650276dup" "" "pathogenic (dominant)" "" "0000595260" "0" "90" "20" "10632263" "10632263" "subst" "0" "03298" "JAG1_000592" "g.10632263A>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10651615A>T" "" "pathogenic" "" "0000595262" "0" "90" "20" "10630990" "10630990" "del" "0" "03298" "JAG1_000591" "g.10630990del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10650342del" "" "pathogenic" "" "0000595263" "0" "90" "20" "10630973" "10630973" "subst" "0" "03298" "JAG1_000067" "g.10630973C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10650325C>T" "" "pathogenic" "" "0000595264" "11" "90" "20" "10630973" "10630973" "subst" "0" "03298" "JAG1_000067" "g.10630973C>T" "" "" "" "" "has two affected siblings" "Germline" "" "" "0" "" "" "g.10650325C>T" "" "pathogenic" "" "0000595265" "0" "90" "20" "10630973" "10630973" "subst" "0" "03298" "JAG1_000067" "g.10630973C>T" "" "" "" "" "has three affected children" "Unknown" "" "" "0" "" "" "g.10650325C>T" "" "pathogenic" "" "0000595266" "11" "90" "20" "10630973" "10630973" "subst" "0" "03298" "JAG1_000067" "g.10630973C>T" "" "" "" "" "has two affected siblings" "Germline" "" "" "0" "" "" "g.10650325C>T" "" "pathogenic" "" "0000595267" "11" "90" "20" "10630973" "10630973" "subst" "0" "03298" "JAG1_000067" "g.10630973C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10650325C>T" "" "pathogenic" "" "0000595268" "0" "90" "20" "10630973" "10630973" "subst" "0" "03298" "JAG1_000067" "g.10630973C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10650325C>T" "" "pathogenic" "" "0000595269" "0" "90" "20" "10630973" "10630973" "subst" "0" "03298" "JAG1_000067" "g.10630973C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10650325C>T" "" "pathogenic" "" "0000595270" "0" "90" "20" "10630940" "10630940" "subst" "0" "03298" "JAG1_000162" "g.10630940T>A" "" "{PMID:Krantz 1998:9585603}" "" "K392X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10650292T>A" "" "pathogenic" "" "0000595271" "21" "90" "20" "10630924" "10630924" "dup" "0" "03298" "JAG1_000169" "g.10630924dup" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline" "" "" "0" "" "" "g.10650276dup" "" "pathogenic (dominant)" "" "0000595273" "0" "90" "20" "10630924" "10630924" "del" "0" "03298" "JAG1_000590" "g.10630924del" "" "{PMID:Lin 2012:22488849}" "" "1205delC" "" "De novo" "" "" "0" "" "" "g.10650276del" "" "pathogenic (dominant)" "" "0000595274" "0" "90" "20" "10630924" "10630924" "dup" "0" "03298" "JAG1_000169" "g.10630924dup" "" "{PMID:Krantz 1998:9585603}" "" "1618insC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10650276dup" "" "pathogenic" "" "0000595275" "0" "90" "20" "10630924" "10630924" "dup" "0" "03298" "JAG1_000169" "g.10630924dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10650276dup" "" "pathogenic" "" "0000595276" "0" "90" "20" "10630924" "10630924" "dup" "0" "03298" "JAG1_000169" "g.10630924dup" "" "{PMID:Krantz 1998:9585603}" "" "1618insC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10650276dup" "" "pathogenic" "" "0000595277" "0" "90" "20" "10630922" "10630922" "subst" "0" "03298" "JAG1_000065" "g.10630922G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10650274G>A" "" "pathogenic" "" "0000595278" "0" "90" "20" "10630922" "10630922" "subst" "0" "03298" "JAG1_000065" "g.10630922G>A" "" "{PMID:Krantz 1998:9585603}" "" "Q398X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10650274G>A" "" "pathogenic" "" "0000595279" "0" "90" "20" "10630922" "10630922" "subst" "0" "03298" "JAG1_000065" "g.10630922G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10650274G>A" "" "pathogenic" "" "0000595280" "0" "90" "20" "10630907" "10630907" "dup" "0" "03298" "JAG1_000589" "g.10630907dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10650259dup" "" "pathogenic" "" "0000595282" "21" "90" "20" "10630276" "10630276" "del" "0" "03298" "JAG1_000344" "g.10630276del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10649628del" "" "pathogenic" "" "0000595283" "0" "90" "20" "10630276" "10630276" "del" "0" "03298" "JAG1_000344" "g.10630276del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10649628del" "" "pathogenic" "" "0000595284" "0" "90" "20" "10630253" "10630254" "del" "0" "03298" "JAG1_000588" "g.10630253_10630254del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10649605_10649606del" "" "pathogenic" "" "0000595285" "0" "90" "20" "10630219" "10630222" "dup" "0" "03298" "JAG1_000170" "g.10630219_10630222dup" "" "{PMID:Krantz 1998:9585603}" "" "1708ins4" "" "De novo" "" "" "0" "" "" "g.10649571_10649574dup" "" "pathogenic" "" "0000595286" "0" "90" "20" "10629280" "10629281" "del" "0" "03298" "JAG1_000060" "g.10629280_10629281del" "" "{PMID:Colliton 2001:11180599}" "" "" "has one affected cousin, two affected aunts, and two affected uncles" "De novo" "" "" "0" "" "" "g.10648632_10648633del" "" "pathogenic (dominant)" "" "0000595287" "0" "90" "20" "10630213" "10630213" "subst" "0" "03298" "JAG1_000343" "g.10630213G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10649565G>C" "" "pathogenic" "" "0000595288" "0" "90" "20" "10630213" "10630213" "subst" "0" "03298" "JAG1_000343" "g.10630213G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10649565G>C" "" "pathogenic" "" "0000595289" "0" "90" "20" "10630213" "10630213" "subst" "0" "03298" "JAG1_000343" "g.10630213G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10649565G>C" "" "pathogenic" "" "0000595290" "0" "90" "20" "10630213" "10630213" "subst" "0" "03298" "JAG1_000343" "g.10630213G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10649565G>C" "" "pathogenic" "" "0000595291" "0" "90" "20" "10630213" "10630213" "subst" "0" "03298" "JAG1_000343" "g.10630213G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10649565G>C" "" "pathogenic" "" "0000595292" "0" "90" "20" "10630213" "10630213" "subst" "0" "03298" "JAG1_000343" "g.10630213G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10649565G>C" "" "pathogenic" "" "0000595294" "0" "70" "20" "10630205" "10630205" "subst" "0" "03298" "JAG1_000587" "g.10630205C>G" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10649557C>G" "" "likely pathogenic" "" "0000595296" "21" "90" "20" "10630192" "10630192" "subst" "0" "03298" "JAG1_000340" "g.10630192C>T" "" "{PMID:Giannakudis 2001:11313761}, {PMID:Ohashi 2017:28695677}" "" "" "" "Germline" "" "" "0" "" "" "g.10649544C>T" "" "pathogenic" "" "0000595297" "0" "90" "20" "10630192" "10630192" "subst" "0" "03298" "JAG1_000340" "g.10630192C>T" "" "{PMID:Giannakudis 2001:11313761}, {PMID:Ohashi 2017:28695677}" "" "" "" "Unknown" "" "" "0" "" "" "g.10649544C>T" "" "pathogenic" "" "0000595298" "11" "90" "20" "10629767" "10629767" "subst" "0" "03298" "JAG1_000176" "g.10629767A>C" "" "" "" "IVS11 1761-12T>G" "" "Germline" "" "" "0" "" "" "g.10649119A>C" "" "pathogenic" "" "0000595299" "0" "90" "20" "10629767" "10629767" "subst" "0" "03298" "JAG1_000176" "g.10629767A>C" "" "{PMID:Krantz 1998:9585603}, {PMID:Gilbert 2019:31343788}" "" "IVS11 1761-12T>G" "" "Germline" "" "" "0" "" "" "g.10649119A>C" "" "pathogenic" "" "0000595300" "0" "90" "20" "10629756" "10629756" "subst" "0" "03298" "JAG1_000586" "g.10629756C>G" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10649108C>G" "" "pathogenic" "" "0000595301" "0" "90" "20" "10629756" "10629756" "subst" "0" "03298" "JAG1_000586" "g.10629756C>G" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10649108C>G" "" "pathogenic" "" "0000595302" "0" "90" "20" "10629742" "10629742" "subst" "0" "03298" "JAG1_000585" "g.10629742G>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10649094G>T" "" "pathogenic" "" "0000595303" "0" "90" "20" "10629707" "10629711" "del" "0" "03298" "JAG1_000583" "g.10629707_10629711del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10649059_10649063del" "" "pathogenic" "" "0000595304" "0" "90" "20" "10629708" "10629708" "subst" "0" "03298" "JAG1_000177" "g.10629708C>A" "" "{PMID:Krantz 1998:9585603}" "" "1808+1G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10649060C>A" "" "pathogenic" "" "0000595305" "0" "90" "20" "10629708" "10629708" "subst" "0" "03298" "JAG1_000177" "g.10629708C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10649060C>A" "" "pathogenic" "" "0000595306" "0" "90" "20" "10629708" "10629708" "subst" "0" "03298" "JAG1_000584" "g.10629708C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10649060C>T" "" "pathogenic" "" "0000595307" "0" "90" "20" "10629347" "10629347" "dup" "0" "03298" "JAG1_000582" "g.10629347dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "has two affected siblings" "Unknown" "" "" "0" "" "" "g.10648699dup" "" "pathogenic" "" "0000595308" "0" "90" "20" "10629347" "10629347" "dup" "0" "03298" "JAG1_000582" "g.10629347dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "has two affected siblings" "Unknown" "" "" "0" "" "" "g.10648699dup" "" "pathogenic" "" "0000595309" "0" "90" "20" "10629347" "10629347" "dup" "0" "03298" "JAG1_000582" "g.10629347dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "has two affected siblings" "Unknown" "" "" "0" "" "" "g.10648699dup" "" "pathogenic" "" "0000595310" "0" "90" "20" "10629322" "10629333" "delins" "0" "03298" "JAG1_000581" "g.10629322_10629333delinsG" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10648674_10648685delinsG" "" "pathogenic" "" "0000595311" "0" "90" "20" "10629313" "10629314" "del" "0" "03298" "JAG1_000580" "g.10629313_10629314del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10648665_10648666del" "" "pathogenic" "" "0000595312" "21" "90" "20" "10629313" "10629314" "del" "0" "03298" "JAG1_000580" "g.10629313_10629314del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline" "" "" "0" "" "" "g.10648665_10648666del" "" "pathogenic" "" "0000595313" "0" "90" "20" "10629313" "10629314" "del" "0" "03298" "JAG1_000580" "g.10629313_10629314del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10648665_10648666del" "" "pathogenic" "" "0000595314" "0" "90" "20" "10629312" "10629312" "delins" "0" "03298" "JAG1_000579" "g.10629312delinsACA" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10648664delinsACA" "" "pathogenic" "" "0000595315" "0" "90" "20" "10629310" "10629310" "dup" "0" "03298" "JAG1_000578" "g.10629310dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648662dup" "" "pathogenic (dominant)" "" "0000595317" "0" "90" "20" "10629304" "10629305" "del" "0" "03298" "JAG1_000167" "g.10629304_10629305del" "" "{PMID:Krantz 1998:9585603}" "" "1874delCA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648656_10648657del" "" "pathogenic" "" "0000595318" "0" "90" "20" "10629280" "10629281" "del" "0" "03298" "JAG1_000060" "g.10629280_10629281del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648632_10648633del" "" "pathogenic" "" "0000595319" "11" "90" "20" "10629280" "10629281" "del" "0" "03298" "JAG1_000060" "g.10629280_10629281del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648632_10648633del" "" "pathogenic" "" "0000595320" "0" "90" "20" "10629280" "10629281" "del" "0" "03298" "JAG1_000060" "g.10629280_10629281del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648632_10648633del" "" "pathogenic" "" "0000595321" "0" "90" "20" "10629275" "10629275" "del" "0" "03298" "JAG1_000577" "g.10629275del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10648627del" "" "pathogenic" "" "0000595323" "0" "90" "20" "10629267" "10629267" "del" "0" "03298" "JAG1_000059" "g.10629267del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10648619del" "" "pathogenic" "" "0000595324" "0" "90" "20" "10624421" "10624424" "del" "0" "03298" "JAG1_000271" "g.10624421_10624424del" "" "{PMID:Crosnier 1999:10220506}" "" "2871+2delTAAG" "" "De novo" "" "" "0" "" "" "g.10643773_10643776del" "" "pathogenic (dominant)" "" "0000595325" "21" "90" "20" "10629240" "10629240" "del" "0" "03298" "JAG1_000576" "g.10629240del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline" "" "" "0" "" "" "g.10648592del" "" "pathogenic" "" "0000595326" "0" "90" "20" "10629240" "10629240" "del" "0" "03298" "JAG1_000576" "g.10629240del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10648592del" "" "pathogenic" "" "0000595328" "21" "90" "20" "10629238" "10629238" "subst" "0" "03298" "JAG1_000332" "g.10629238G>A" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10648590G>A" "" "pathogenic" "" "0000595329" "21" "90" "20" "10629238" "10629238" "subst" "0" "03298" "JAG1_000332" "g.10629238G>A" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10648590G>A" "" "pathogenic" "" "0000595330" "0" "90" "20" "10629238" "10629238" "subst" "0" "03298" "JAG1_000332" "g.10629238G>A" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10648590G>A" "" "pathogenic" "" "0000595331" "0" "90" "20" "10622326" "10622326" "subst" "0" "03298" "JAG1_000024" "g.10622326G>A" "" "{PMID:Crosnier 1999:10220506}" "" "3111C>T" "" "Germline" "" "" "0" "" "" "g.10641678G>A" "" "pathogenic (dominant)" "" "0000595333" "0" "90" "20" "10629202" "10629203" "del" "0" "03298" "JAG1_000330" "g.10629202_10629203del" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10648554_10648555del" "" "pathogenic" "" "0000595334" "0" "90" "20" "10622107" "10622107" "subst" "0" "03298" "JAG1_000153" "g.10622107C>G" "" "{PMID:Crosnier 1999:10220506}" "" "3329+1G>C" "" "De novo" "" "" "0" "" "" "g.10641459C>G" "" "pathogenic (dominant)" "" "0000595335" "0" "90" "20" "10621893" "10621893" "subst" "0" "03298" "JAG1_000738" "g.10621893C>G" "" "{PMID:Crosnier 1999:10220506}" "" "3330-1G>C" "" "De novo" "" "" "0" "" "" "g.10641245C>G" "" "pathogenic (dominant)" "" "0000595336" "11" "90" "20" "10628672" "10628672" "del" "0" "03298" "JAG1_000159" "g.10628672del" "" "{PMID:Li 1997:9207788}" "" "2066delC" "" "Germline" "" "" "0" "" "" "g.10648024del" "" "pathogenic" "" "0000595337" "0" "90" "20" "10628672" "10628672" "del" "0" "03298" "JAG1_000159" "g.10628672del" "" "{PMID:Li 1997:9207788}" "" "2066delC" "" "Germline" "" "" "0" "" "" "g.10648024del" "" "pathogenic" "" "0000595338" "11" "90" "20" "10628672" "10628672" "del" "0" "03298" "JAG1_000159" "g.10628672del" "" "{PMID:Li 1997:9207788}" "" "2066delC" "" "Germline" "" "" "0" "" "" "g.10648024del" "" "pathogenic" "" "0000595339" "0" "90" "20" "10621463" "10621466" "del" "0" "03298" "JAG1_000203" "g.10621463_10621466del" "" "{PMID:Crosnier 1999:10220506}" "" "3577–3580delTAAG" "" "De novo" "" "" "0" "" "" "g.10640815_10640818del" "" "pathogenic (dominant)" "" "0000595341" "0" "90" "20" "10628650" "10628650" "del" "0" "03298" "JAG1_000574" "g.10628650del" "" "{PMID:Lin 2012:22488849}" "" "1678dekT" "" "De novo" "" "" "0" "" "" "g.10648002del" "" "pathogenic (dominant)" "" "0000595342" "0" "90" "20" "10628646" "10628646" "subst" "0" "03298" "JAG1_000573" "g.10628646G>C" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10647998G>C" "" "pathogenic" "" "0000595343" "21" "90" "20" "10637045" "10637045" "subst" "0" "03298" "JAG1_000651" "g.10637045C>T" "" "{PMID:Giannakudis 2001:11313761}" "" "1241+1G>A" "" "Germline" "yes" "" "0" "" "" "g.10656397C>T" "" "pathogenic (dominant)" "" "0000595345" "0" "90" "20" "10628615" "10628615" "dup" "0" "03298" "JAG1_000322" "g.10628615dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10647967dup" "" "pathogenic" "" "0000595347" "0" "90" "20" "10628608" "10628608" "subst" "0" "03298" "JAG1_000320" "g.10628608C>G" "" "" "" "" "deletion of exon 13 confirmed by cDNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.10647960C>G" "" "pathogenic (dominant)" "" "0000595348" "0" "90" "20" "10628606" "10628606" "subst" "0" "03298" "JAG1_000572" "g.10628606A>G" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10647958A>G" "" "pathogenic" "" "0000595349" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "" "" "2536-2538delCAGT" "" "De novo" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000595350" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Crosnier 1999:10220506}" "" "2537-2538delCAGT" "" "De novo" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000595351" "11" "90" "20" "10627650" "10627650" "subst" "0" "03298" "JAG1_000571" "g.10627650G>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline" "" "" "0" "" "" "g.10647002G>A" "" "pathogenic" "" "0000595352" "0" "90" "20" "10627650" "10627650" "subst" "0" "03298" "JAG1_000571" "g.10627650G>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10647002G>A" "" "pathogenic" "" "0000595353" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Crosnier 1999:10220506}" "" "2538-2538delCAGT" "" "De novo" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000595354" "0" "90" "20" "10627613" "10627613" "dup" "0" "03298" "JAG1_000173" "g.10627613dup" "" "{PMID:Krantz 1998:9585603}" "" "2271insG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10646965dup" "" "pathogenic" "" "0000595355" "0" "90" "20" "10627597" "10627597" "subst" "0" "03298" "JAG1_000311" "g.10627597G>C" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10646949G>C" "" "pathogenic" "" "0000595356" "0" "90" "20" "10630206" "10630206" "subst" "0" "03298" "JAG1_000737" "g.10630206A>T" "" "{PMID:Crosnier 1999:10220506}" "" "Cys438Ser" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10649558A>T" "" "pathogenic (dominant)" "" "0000595357" "11" "90" "20" "10629706" "10629706" "subst" "0" "03298" "JAG1_000645" "g.10629706T>C" "" "{PMID:Crosnier 1999:10220506}" "" "1808+3A>G" "" "Germline" "" "" "0" "" "" "g.10649058T>C" "" "pathogenic (dominant)" "" "0000595358" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Crosnier 1999:10220506}" "" "2535-2538delCAGT" "has an affected cousin" "De novo" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000595359" "0" "90" "20" "10626641" "10626641" "subst" "0" "03298" "JAG1_000570" "g.10626641C>T" "" "{PMID:Guo 2018:29783821}" "" "" "" "Unknown" "" "" "0" "" "" "g.10645993C>T" "" "pathogenic" "" "0000595360" "21" "90" "20" "10626634" "10626634" "del" "0" "03298" "JAG1_000569" "g.10626634del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline" "" "" "0" "" "" "g.10645986del" "" "pathogenic" "" "0000595361" "11" "90" "20" "10626634" "10626634" "del" "0" "03298" "JAG1_000569" "g.10626634del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "has an affected child" "Germline" "" "" "0" "" "" "g.10645986del" "" "pathogenic" "" "0000595362" "0" "90" "20" "10626634" "10626634" "del" "0" "03298" "JAG1_000569" "g.10626634del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "has an affected child and an affected grandchild" "Unknown" "" "" "0" "" "" "g.10645986del" "" "pathogenic" "" "0000595363" "21" "90" "20" "10626626" "10626626" "subst" "0" "03298" "JAG1_000568" "g.10626626A>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline" "" "" "0" "" "" "g.10645978A>T" "" "pathogenic" "" "0000595364" "0" "90" "20" "10626626" "10626626" "subst" "0" "03298" "JAG1_000568" "g.10626626A>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "has an affected child" "Unknown" "" "" "0" "" "" "g.10645978A>T" "" "pathogenic" "" "0000595365" "0" "90" "20" "10626089" "10626089" "subst" "0" "03298" "JAG1_000567" "g.10626089G>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10645441G>T" "" "pathogenic" "" "0000595366" "0" "90" "20" "10626078" "10626078" "del" "0" "03298" "JAG1_000566" "g.10626078del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10645430del" "" "pathogenic" "" "0000595367" "0" "90" "20" "10626073" "10626073" "dup" "0" "03298" "JAG1_000565" "g.10626073dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10645425dup" "" "pathogenic" "" "0000595368" "0" "90" "20" "10626057" "10626058" "ins" "0" "03298" "JAG1_000174" "g.10626057_10626058insA" "" "{PMID:Krantz 1998:9585603}" "" "2472insT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645409_10645410insA" "" "pathogenic" "" "0000595370" "0" "90" "20" "10626038" "10626039" "del" "0" "03298" "JAG1_000564" "g.10626038_10626039del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10645390_10645391del" "" "pathogenic" "" "0000595371" "0" "90" "20" "10626033" "10626033" "del" "0" "03298" "JAG1_000563" "g.10626033del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10645385del" "" "pathogenic" "" "0000595373" "0" "90" "20" "10626017" "10626021" "del" "0" "03298" "JAG1_000168" "g.10626017_10626021del" "" "{PMID:Krantz 1998:9585603}" "" "2504del5" "" "Germline" "" "" "0" "" "" "g.10645369_10645373del" "" "pathogenic" "" "0000595374" "0" "90" "20" "10626017" "10626021" "del" "0" "03298" "JAG1_000168" "g.10626017_10626021del" "" "{PMID:Krantz 1998:9585603}" "" "2504del5" "" "De novo" "" "" "0" "" "" "g.10645369_10645373del" "" "pathogenic" "" "0000595375" "0" "90" "20" "10626017" "10626021" "del" "0" "03298" "JAG1_000168" "g.10626017_10626021del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10645369_10645373del" "" "pathogenic" "" "0000595376" "0" "90" "20" "10626017" "10626021" "del" "0" "03298" "JAG1_000168" "g.10626017_10626021del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10645369_10645373del" "" "pathogenic" "" "0000595377" "0" "90" "20" "10625899" "10625900" "del" "0" "03298" "JAG1_000046" "g.10625899_10625900del" "" "{PMID:Krantz 1998:9585603}" "" "2531delCA" "" "De novo" "" "" "0" "" "" "g.10645251_10645252del" "" "pathogenic" "" "0000595378" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000595380" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000595381" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000595382" "21" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Li 1997:9207788}" "" "" "" "Germline" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000595383" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Li 1997:9207788}" "" "" "" "Germline" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000595384" "21" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000595385" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000595386" "11" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000595387" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000595388" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000595389" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000595390" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000595391" "0" "90" "20" "10625893" "10625896" "del" "0" "03298" "JAG1_000045" "g.10625893_10625896del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic" "" "0000595392" "0" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "{PMID:Colliton 2001:11180599}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic (dominant)" "" "0000595393" "0" "90" "20" "10625877" "10625877" "subst" "0" "03298" "JAG1_000288" "g.10625877C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10645229C>T" "" "pathogenic" "" "0000595394" "21" "90" "20" "10625877" "10625877" "subst" "0" "03298" "JAG1_000288" "g.10625877C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10645229C>T" "" "pathogenic" "" "0000595395" "0" "90" "20" "10625845" "10625845" "dup" "0" "03298" "JAG1_000175" "g.10625845dup" "" "{PMID:Krantz 1998:9585603}" "" "2587insG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645197dup" "" "pathogenic" "" "0000595396" "0" "90" "20" "10625845" "10625845" "del" "0" "03298" "JAG1_000562" "g.10625845del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10645197del" "" "pathogenic" "" "0000595397" "0" "90" "20" "10625814" "10625814" "subst" "0" "03298" "JAG1_000285" "g.10625814C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645166C>T" "" "pathogenic" "" "0000595398" "0" "90" "20" "10625814" "10625814" "subst" "0" "03298" "JAG1_000285" "g.10625814C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645166C>T" "" "pathogenic" "" "0000595399" "0" "90" "20" "10625792" "10625793" "del" "0" "03298" "JAG1_000561" "g.10625792_10625793del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "Unknown" "" "" "0" "" "" "g.10645144_10645145del" "" "pathogenic" "" "0000595400" "0" "90" "20" "10625792" "10625793" "del" "0" "03298" "JAG1_000561" "g.10625792_10625793del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "" "" "Unknown" "" "" "0" "" "" "g.10645144_10645145del" "" "pathogenic" "" "0000595401" "0" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "{PMID:Krantz 1998:9585603}" "" "R739X" "" "De novo" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595402" "0" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595403" "0" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595404" "21" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595405" "0" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595406" "21" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595407" "0" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595408" "21" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595409" "0" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595410" "0" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595411" "0" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595412" "21" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595413" "0" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595414" "11" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595415" "0" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595416" "0" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic" "" "0000595417" "0" "90" "20" "10625585" "10625586" "dup" "0" "03298" "JAG1_000559" "g.10625585_10625586dup" "" "{PMID:Lin 2012:22488849}" "" "2269_2270dupGG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644937_10644938dup" "" "pathogenic (dominant)" "" "0000595418" "0" "90" "20" "10625585" "10625586" "del" "0" "03298" "JAG1_000560" "g.10625585_10625586del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10644937_10644938del" "" "pathogenic" "" "0000595419" "0" "70" "20" "10625579" "10625579" "subst" "0" "03298" "JAG1_000557" "g.10625579C>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10644931C>A" "" "likely pathogenic" "" "0000595420" "0" "90" "20" "10625579" "10625579" "delins" "0" "03298" "JAG1_000558" "g.10625579delinsTG" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "has an affected sibling" "Unknown" "" "" "0" "" "" "g.10644931delinsTG" "" "pathogenic" "" "0000595421" "0" "90" "20" "10625579" "10625579" "delins" "0" "03298" "JAG1_000558" "g.10625579delinsTG" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "has an affected sibling" "Unknown" "" "" "0" "" "" "g.10644931delinsTG" "" "pathogenic" "" "0000595422" "0" "90" "20" "10625575" "10625576" "del" "0" "03298" "JAG1_000171" "g.10625575_10625576del" "" "{PMID:Krantz 1998:9585603}" "" "2692delTG" "" "Germline" "" "" "0" "" "" "g.10644927_10644928del" "" "pathogenic" "" "0000595423" "0" "90" "20" "10625551" "10625551" "subst" "0" "03298" "JAG1_000040" "g.10625551G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644903G>T" "" "pathogenic (dominant)" "" "0000595424" "0" "90" "20" "10625034" "10625034" "subst" "0" "03298" "JAG1_000556" "g.10625034T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10644386T>C" "" "pathogenic (dominant)" "" "0000595425" "0" "90" "20" "10625034" "10625034" "subst" "0" "03298" "JAG1_000556" "g.10625034T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10644386T>C" "" "pathogenic (dominant)" "" "0000595426" "11" "90" "20" "10625004" "10625004" "subst" "0" "03298" "JAG1_000555" "g.10625004C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10644356C>A" "" "pathogenic" "" "0000595427" "0" "90" "20" "10625004" "10625004" "subst" "0" "03298" "JAG1_000555" "g.10625004C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10644356C>A" "" "pathogenic" "" "0000595428" "0" "90" "20" "10625625" "10625625" "subst" "0" "03298" "JAG1_000041" "g.10625625G>A" "" "{PMID:Colliton 2001:11180599}" "" "" "" "De novo" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic (dominant)" "" "0000595429" "0" "90" "20" "10624442" "10624445" "dup" "0" "03298" "JAG1_000554" "g.10624442_10624445dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10643794_10643797dup" "" "pathogenic" "" "0000595430" "0" "90" "20" "10637098" "10637098" "subst" "0" "03298" "JAG1_000081" "g.10637098G>A" "" "{PMID:Crosnier 1999:10220506}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic (dominant)" "" "0000595431" "21" "90" "20" "10624429" "10624429" "subst" "0" "03298" "JAG1_000553" "g.10624429T>C" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "introduces a cryptic splice site, confirmed by cDNA" "Germline" "" "" "0" "" "" "g.10643781T>C" "" "pathogenic" "" "0000595432" "0" "90" "20" "10624429" "10624429" "subst" "0" "03298" "JAG1_000553" "g.10624429T>C" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "introduces a cryptic splice site, confirmed by cDNA" "Unknown" "" "" "0" "" "" "g.10643781T>C" "" "pathogenic" "" "0000595433" "0" "90" "20" "10624425" "10624425" "del" "0" "03298" "JAG1_000552" "g.10624425del" "" "{PMID:Lin 2012:22488849}" "" "delG" "" "De novo" "" "" "0" "" "" "g.10643777del" "" "pathogenic (dominant)" "" "0000595434" "0" "90" "20" "10624425" "10624425" "subst" "0" "03298" "JAG1_000178" "g.10624425C>A" "" "{PMID:Krantz 1998:9585603}" "" "2871+1G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10643777C>A" "" "pathogenic" "" "0000595435" "11" "70" "20" "10624421" "10624421" "subst" "0" "03298" "JAG1_000551" "g.10624421C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10643773C>T" "" "likely pathogenic" "" "0000595436" "11" "90" "20" "10623250" "10623250" "subst" "0" "03298" "JAG1_000550" "g.10623250C>T" "" "{PMID:Colliton 2001:11180599}" "" "2458-1g>A" "" "Germline" "" "" "0" "" "" "g.10642602C>T" "" "pathogenic" "" "0000595437" "0" "90" "20" "10633149" "10633150" "del" "0" "03298" "JAG1_000373" "g.10633149_10633150del" "" "{PMID:Crosnier 1999:10220506}" "" "1265-1266delTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652501_10652502del" "" "pathogenic (dominant)" "" "0000595438" "0" "90" "20" "10623235" "10623235" "subst" "4.0623E-6" "03298" "JAG1_000163" "g.10623235G>A" "" "{PMID:Krantz 1998:9585603}" "" "Q820X" "" "De novo" "" "" "0" "" "" "g.10642587G>A" "" "pathogenic" "" "0000595439" "0" "90" "20" "10623221" "10623221" "subst" "0" "03298" "JAG1_000549" "g.10623221A>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10642573A>T" "" "pathogenic" "" "0000595440" "0" "90" "20" "10623187" "10623203" "del" "0" "03298" "JAG1_000548" "g.10623187_10623203del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10642539_10642555del" "" "pathogenic" "" "0000595442" "0" "90" "20" "10623135" "10623135" "subst" "0" "03298" "JAG1_000547" "g.10623135C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10642487C>T" "" "pathogenic" "" "0000595443" "0" "90" "20" "10623134" "10623134" "subst" "0" "03298" "JAG1_000546" "g.10623134A>T" "" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "" "" "Unknown" "" "" "0" "" "" "g.10642486A>T" "" "pathogenic" "" "0000595445" "0" "90" "20" "10622526" "10622526" "dup" "0" "03298" "JAG1_000545" "g.10622526dup" "" "{PMID:Lin 2012:22488849}" "" "2587dupT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641878dup" "" "pathogenic (dominant)" "" "0000595446" "0" "90" "20" "10637098" "10637098" "subst" "0" "03298" "JAG1_000081" "g.10637098G>A" "" "{PMID:Crosnier 1999:10220506}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic (dominant)" "" "0000595447" "0" "90" "20" "10622512" "10622512" "dup" "0" "03298" "JAG1_000157" "g.10622512dup" "" "{PMID:Oda 1997:9207787}" "" "3060insG" "" "Germline" "" "" "0" "" "" "g.10641864dup" "" "pathogenic (dominant)" "" "0000595448" "0" "90" "20" "10622512" "10622512" "dup" "0" "03298" "JAG1_000157" "g.10622512dup" "" "{PMID:Oda 1997:9207787}" "" "3060insG" "" "Germline" "" "" "0" "" "" "g.10641864dup" "" "pathogenic (dominant)" "" "0000595449" "0" "90" "20" "10622506" "10622507" "del" "0" "03298" "JAG1_000172" "g.10622506_10622507del" "" "{PMID:Krantz 1998:9585603}" "" "3019delTG" "" "De novo" "" "" "0" "" "" "g.10641858_10641859del" "" "pathogenic" "" "0000595450" "10" "90" "20" "10622501" "10622502" "delins" "0" "03298" "JAG1_000180" "g.10622501_10622502delinsCA" "" "{PMID:Krantz 1998:9585603}" "" "R866X" "" "De novo" "" "" "0" "" "" "g.10641853_10641854delinsCA" "" "pathogenic" "" "0000595451" "0" "90" "20" "10622473" "10622474" "del" "0" "03298" "JAG1_000152" "g.10622473_10622474del" "" "{PMID:Oda 1997:9207787}" "" "3098delGT" "" "Germline" "" "" "0" "" "" "g.10641825_10641826del" "" "pathogenic (dominant)" "" "0000595452" "11" "90" "20" "10622447" "10622451" "delins" "0" "03298" "JAG1_000543" "g.10622447_10622451delinsGGCGATCAAATGTATTACAGGCAAAGGT" "" "{PMID:Warthen 2006:16575836}" "" "p2662_2677delins21" "" "Germline" "" "" "0" "" "" "g.10641799_10641803delinsGGCGATCAAATGTATTACAGGCAAAGGT" "" "pathogenic" "" "0000595455" "11" "50" "20" "10622447" "10622447" "subst" "5.68643E-5" "03298" "JAG1_000261" "g.10622447C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Germline" "" "" "0" "" "" "g.10641799C>T" "" "VUS" "" "0000595456" "0" "50" "20" "10622447" "10622447" "subst" "5.68643E-5" "03298" "JAG1_000261" "g.10622447C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641799C>T" "" "VUS" "" "0000595457" "0" "90" "20" "10622435" "10622435" "subst" "0" "03298" "JAG1_000542" "g.10622435G>T" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641787G>T" "" "pathogenic" "" "0000595460" "0" "90" "20" "10622429" "10622429" "subst" "0" "03298" "JAG1_000541" "g.10622429A>G" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641781A>G" "" "pathogenic" "" "0000595461" "0" "90" "20" "10622336" "10622336" "subst" "0" "03298" "JAG1_000258" "g.10622336C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641688C>T" "" "pathogenic (dominant)" "" "0000595462" "0" "90" "20" "10622336" "10622336" "subst" "0" "03298" "JAG1_000258" "g.10622336C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641688C>T" "" "pathogenic" "" "0000595463" "0" "90" "20" "10622333" "10622333" "subst" "0" "03298" "JAG1_000166" "g.10622333A>T" "" "{PMID:Krantz 1998:9585603}" "" "C892X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641685A>T" "" "pathogenic" "" "0000595464" "0" "90" "20" "10622326" "10622326" "subst" "0" "03298" "JAG1_000024" "g.10622326G>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641678G>A" "" "pathogenic" "" "0000595465" "0" "90" "20" "10622326" "10622326" "subst" "0" "03298" "JAG1_000024" "g.10622326G>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641678G>A" "" "pathogenic" "" "0000595466" "0" "90" "20" "10622326" "10622326" "subst" "0" "03298" "JAG1_000024" "g.10622326G>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641678G>A" "" "pathogenic" "" "0000595467" "0" "90" "20" "10622326" "10622326" "subst" "0" "03298" "JAG1_000024" "g.10622326G>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641678G>A" "" "pathogenic" "" "0000595468" "0" "90" "20" "10622326" "10622326" "subst" "0" "03298" "JAG1_000024" "g.10622326G>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641678G>A" "" "pathogenic" "" "0000595469" "11" "90" "20" "10639259" "10639259" "subst" "0" "03298" "JAG1_000087" "g.10639259C>T" "" "{PMID:Giannakudis 2001:11313761}" "" "R184H" "" "Germline" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic (dominant)" "" "0000595470" "21" "70" "20" "10622319" "10622319" "subst" "0" "03298" "JAG1_000257" "g.10622319C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10641671C>G" "" "likely pathogenic" "" "0000595471" "21" "70" "20" "10622319" "10622319" "subst" "0" "03298" "JAG1_000257" "g.10622319C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10641671C>G" "" "likely pathogenic" "" "0000595472" "0" "90" "20" "10622293" "10622293" "dup" "0" "03298" "JAG1_000540" "g.10622293dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641645dup" "" "pathogenic" "" "0000595474" "0" "90" "20" "10622292" "10622292" "subst" "0" "03298" "JAG1_000253" "g.10622292C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641644C>T" "" "pathogenic" "" "0000595475" "0" "90" "20" "10622292" "10622292" "subst" "0" "03298" "JAG1_000253" "g.10622292C>T" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641644C>T" "" "pathogenic" "" "0000595476" "0" "90" "20" "10622251" "10622258" "delins" "0" "03298" "JAG1_000539" "g.10622251_10622258delinsGGCA" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641603_10641610delinsGGCA" "" "pathogenic" "" "0000595477" "0" "90" "20" "10622254" "10622254" "subst" "0" "03298" "JAG1_000249" "g.10622254G>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641606G>A" "" "pathogenic" "" "0000595478" "0" "90" "20" "10622254" "10622254" "subst" "0" "03298" "JAG1_000249" "g.10622254G>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641606G>A" "" "pathogenic" "" "0000595479" "0" "90" "20" "10622149" "10622150" "dup" "0" "03298" "JAG1_000236" "g.10622149_10622150del" "" "{PMID:Colliton 2001:11180599}" "" "" "" "De novo" "" "" "0" "" "" "g.10641501_10641502del" "" "pathogenic (dominant)" "" "0000595480" "0" "90" "20" "10622236" "10622250" "delins" "0" "03298" "JAG1_000538" "g.10622236_10622250delinsTGCCCTGG" "" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "2773_2787delinsCCAGGGCA" "" "Unknown" "" "" "0" "" "" "g.10641588_10641602delinsTGCCCTGG" "" "pathogenic" "" "0000595483" "0" "90" "20" "10622198" "10622204" "del" "0" "03298" "JAG1_000537" "g.10622198_10622204del" "" "{PMID:Lin 2012:22488849}" "" "delTCTVVAG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641550_10641556del" "" "pathogenic (dominant)" "" "0000595484" "0" "90" "20" "10622193" "10622203" "del" "0" "03298" "JAG1_000536" "g.10622193_10622203del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641545_10641555del" "" "pathogenic" "" "0000595488" "0" "90" "20" "10622149" "10622150" "del" "0" "03298" "JAG1_000236" "g.10622149_10622150del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641501_10641502del" "" "pathogenic" "" "0000595489" "21" "90" "20" "10622149" "10622150" "del" "0" "03298" "JAG1_000236" "g.10622149_10622150del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline" "" "" "0" "" "" "g.10641501_10641502del" "" "pathogenic" "" "0000595490" "0" "90" "20" "10622149" "10622150" "del" "0" "03298" "JAG1_000236" "g.10622149_10622150del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641501_10641502del" "" "pathogenic" "" "0000595491" "0" "90" "20" "10622149" "10622150" "del" "0" "03298" "JAG1_000236" "g.10622149_10622150del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641501_10641502del" "" "pathogenic" "" "0000595492" "0" "90" "20" "10622149" "10622150" "del" "0" "03298" "JAG1_000236" "g.10622149_10622150del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641501_10641502del" "" "pathogenic" "" "0000595493" "0" "90" "20" "10622126" "10622126" "dup" "0" "03298" "JAG1_000234" "g.10622126dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641478dup" "" "pathogenic (dominant)" "" "0000595494" "0" "90" "20" "10622107" "10622107" "subst" "0" "03298" "JAG1_000534" "g.10622107C>T" "" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641459C>T" "" "pathogenic" "" "0000595495" "0" "90" "20" "10622107" "10622107" "subst" "0" "03298" "JAG1_000153" "g.10622107C>G" "" "{PMID:Oda 1997:9207787}" "" "3375+1G>C" "" "Germline" "" "" "0" "" "" "g.10641459C>G" "" "pathogenic (dominant)" "" "0000595496" "0" "90" "20" "10622107" "10622107" "subst" "0" "03298" "JAG1_000153" "g.10622107C>G" "" "{PMID:Oda 1997:9207787}" "" "3375+1G>C" "" "Germline" "" "" "0" "" "" "g.10641459C>G" "" "pathogenic (dominant)" "" "0000595497" "0" "90" "20" "10621891" "10621891" "del" "0" "03298" "JAG1_000533" "g.10621891del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641243del" "" "pathogenic" "" "0000595499" "0" "90" "20" "10621886" "10621886" "dup" "0" "03298" "JAG1_000231" "g.10621886dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641238dup" "" "pathogenic" "" "0000595500" "0" "90" "20" "10621886" "10621886" "dup" "0" "03298" "JAG1_000231" "g.10621886dup" "" "{PMID:Warthen 2006:16575836}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641238dup" "" "pathogenic" "" "0000595501" "0" "90" "20" "10621882" "10621882" "dup" "0" "03298" "JAG1_000532" "g.10621882dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641234dup" "" "pathogenic" "" "0000595503" "0" "90" "20" "10621852" "10621853" "dup" "0" "03298" "JAG1_000531" "g.10621852_10621853dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641204_10641205dup" "" "pathogenic" "" "0000595504" "0" "90" "20" "10621808" "10621809" "ins" "0" "03298" "JAG1_000000" "g.10621808_10621809insN[19]" "" "{PMID:Colliton 2001:11180599}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000595506" "0" "90" "20" "10621809" "10621827" "dup" "0" "03298" "JAG1_000529" "g.10621809_10621827dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641161_10641179dup" "" "pathogenic" "" "0000595507" "0" "90" "20" "10621819" "10621819" "subst" "0" "03298" "JAG1_000530" "g.10621819G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10641171G>T" "" "pathogenic (dominant)" "" "0000595508" "0" "90" "20" "10621801" "10621806" "delins" "0" "03298" "JAG1_000527" "g.10621801_10621806delinsGC" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641153_10641158delinsGC" "" "pathogenic" "" "0000595509" "0" "90" "20" "10639259" "10639259" "subst" "0" "03298" "JAG1_000087" "g.10639259C>T" "" "{PMID:Crosnier 1999:10220506}" "" "964G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic (dominant)" "" "0000595510" "0" "70" "20" "10621805" "10621805" "subst" "0" "03298" "JAG1_000528" "g.10621805A>G" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10641157A>G" "" "likely pathogenic" "" "0000595511" "0" "90" "20" "10621786" "10621798" "dup" "0" "03298" "JAG1_000526" "g.10621786_10621798dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10641138_10641150dup" "" "pathogenic (dominant)" "" "0000595512" "0" "90" "20" "10644667" "10644667" "subst" "0" "03298" "JAG1_000736" "g.10644667A>T" "" "{PMID:Crosnier 1999:10220506}" "" "" "" "De novo" "" "" "0" "" "" "g.10664019A>T" "" "pathogenic (dominant)" "" "0000595513" "0" "90" "20" "10621760" "10621760" "subst" "0" "03298" "JAG1_000524" "g.10621760C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641112C>A" "" "pathogenic (dominant)" "" "0000595514" "0" "90" "20" "10620582" "10620585" "dup" "0" "03298" "JAG1_000198" "g.10620582_10620585dup" "" "{PMID:Colliton 2001:11180599}" "" "c.3221_3224ins4" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10639934_10639937dup" "" "pathogenic (dominant)" "" "0000595516" "0" "90" "20" "10621490" "10621490" "subst" "0" "03298" "JAG1_000523" "g.10621490G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10640842G>T" "" "pathogenic (dominant)" "" "0000595517" "0" "90" "20" "10621470" "10621470" "subst" "0" "03298" "JAG1_000522" "g.10621470C>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10640822C>A" "" "pathogenic" "" "0000595520" "0" "90" "20" "10621463" "10621466" "del" "0" "03298" "JAG1_000203" "g.10621463_10621466del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10640815_10640818del" "" "pathogenic" "" "0000595521" "0" "90" "20" "10621463" "10621466" "del" "0" "03298" "JAG1_000203" "g.10621463_10621466del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10640815_10640818del" "" "pathogenic" "" "0000595522" "0" "90" "20" "10621463" "10621466" "del" "0" "03298" "JAG1_000203" "g.10621463_10621466del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10640815_10640818del" "" "pathogenic" "" "0000595523" "0" "90" "20" "10621458" "10621458" "subst" "0" "03298" "JAG1_000521" "g.10621458G>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10640810G>A" "" "pathogenic" "" "0000595524" "0" "90" "20" "10621458" "10621458" "subst" "0" "03298" "JAG1_000521" "g.10621458G>A" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10640810G>A" "" "pathogenic" "" "0000595526" "0" "90" "20" "10620605" "10620605" "subst" "0" "03298" "JAG1_000519" "g.10620605T>C" "" "{PMID:Warthen 2006:16575836}, {PMID:Gilbert 2019:31343788}" "" "" "" "Unknown" "" "" "0" "" "" "g.10639957T>C" "" "pathogenic" "" "0000595528" "0" "90" "20" "10620582" "10620585" "dup" "0" "03298" "JAG1_000198" "g.10620582_10620585dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10639934_10639937dup" "" "pathogenic" "" "0000595529" "0" "90" "20" "10620560" "10620560" "dup" "0" "03298" "JAG1_000518" "g.10620560dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "" "" "Unknown" "" "" "0" "" "" "g.10639912dup" "" "pathogenic" "" "0000595530" "0" "90" "20" "10653692" "10654297" "del" "0" "03298" "JAG1_000744" "g.10653692_10654297del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "partial deletion ex1" "" "Unknown" "" "" "0" "" "" "g.10673044_10673649del" "" "pathogenic" "" "0000595531" "0" "90" "20" "10651687" "10659738" "" "0" "03298" "JAG1_000491" "g.10651687_10659738del" "" "{PMID:Warthen 2006:16575836}" "" "deletion ex1-2 (c.5560_387+1662del)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595532" "0" "90" "20" "10653348" "10654694" "del" "0" "03298" "JAG1_000614" "g.(10644663_10653348)_(10654694_?)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "deletion ex1-2" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595533" "0" "90" "20" "10653348" "10654694" "del" "0" "03298" "JAG1_000614" "g.(10644663_10653348)_(10654694_?)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "deletion ex1-2" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595534" "0" "90" "20" "10622107" "10654694" "del" "0" "03298" "JAG1_000535" "g.(10621893_10622107)_(10654694_?)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "deletion ex1-23" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595535" "0" "90" "20" "10644610" "10644663" "del" "0" "03298" "JAG1_000613" "g.(10639371_10644610)_(10644663_10653348)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "deletion ex3" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595536" "0" "90" "20" "10644610" "10644663" "del" "0" "03298" "JAG1_000613" "g.(10639371_10644610)_(10644663_10653348)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "deletion ex3" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595537" "0" "90" "20" "10618332" "10644663" "del" "0" "03298" "JAG1_000516" "g.(?_10618332)_(10644663_10653348)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "deletion ex3-26" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595538" "0" "90" "20" "10629196" "10631009" "del" "0" "03298" "JAG1_000575" "g.(10628759_10629196)_(10631009_10632228)del" "" "{PMID:Lin 2012:22488849}" "" "deletion ex9-12" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(10648111_10648548)_(10650361_10651580)del" "" "pathogenic (dominant)" "" "0000595539" "0" "90" "20" "10618332" "10630284" "del" "0" "03298" "JAG1_000515" "g.(?_10618332)_(10630284_10630894)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "deletion ex10-26" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595540" "0" "90" "20" "10621760" "10622541" "del" "0" "03298" "JAG1_000525" "g.(10621582_10621760)_(10622541_10623135)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "deletion ex22-24" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595541" "0" "90" "20" "10402074" "10658979" "del" "0" "03298" "JAG1_000513" "g.(?_10402074)_(10658979_?)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "257 Kb deletion (10402074-10658979)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595542" "0" "90" "20" "10560458" "10656087" "del" "0" "03298" "JAG1_000000" "g.(?_10560458)_(10656087_?)del" "" "{PMID:Kamath 2009:19058200}" "" "0.095 Mb deletion (10508458-10604087 NCBI35)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595543" "0" "90" "20" "9919383" "10769877" "del" "0" "03298" "JAG1_000509" "g.(?_9919383)_(10769877_?)del" "" "{PMID:Laufer-Cahana 2002:12244554}, {PMID:Kamath 2009:19058200}" "" "0.85 Mb deletion (9867383-10717877 NCBI35)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000595544" "0" "90" "20" "10523952" "11385119" "del" "0" "03298" "JAG1_000514" "g.(?_10523952)_(11385119_?)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "861 Kb deletion (10523952-11385119)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595545" "0" "90" "20" "9562922" "10743024" "del" "0" "03298" "JAG1_000507" "g.(?_9562922)_(10743024_?)del" "" "{PMID:Kamath 2009:19058200}" "" "1.18 Mb deletion (9510922-10691024 NCBI35)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595546" "11" "90" "20" "9525601" "11079205" "del" "0" "03298" "JAG1_000506" "g.(?_9525601)_(11079205_?)del" "" "{PMID:Kamath 2009:19058200}" "" "1.55 Mb deletion (9473601-11027205 NCBI35)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000595547" "0" "90" "20" "10360051" "12798054" "del" "0" "03298" "JAG1_000511" "g.(?_10360051)_(12798054_?)del" "" "{PMID:Kamath 2009:19058200}" "" "2.44 Mb deletion (10308051-12746054 NCBI35)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000595548" "0" "90" "20" "9504468" "12332526" "del" "0" "03298" "JAG1_000505" "g.(?_9504468)_(12332526_?)del" "" "{PMID:Kamath 2009:19058200}" "" "2.83 Mb deletion (9452468-12280526 NCBI35)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000595549" "0" "90" "20" "8647519" "11490289" "del" "0" "03298" "JAG1_000500" "g.(?_8647519)_(11490289_?)del" "" "{PMID:Lin 2012:22488849}" "" "2.84 Mb deletion (8647519-11490289)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000595550" "0" "90" "20" "9251107" "12214763" "del" "0" "03298" "JAG1_000504" "g.(?_9251107)_(12214763_?)del" "" "{PMID:Lin 2012:22488849}" "" "2.96 Mb deletion (9251107-12214763)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000595551" "0" "90" "20" "8865006" "11896206" "del" "0" "03298" "JAG1_000502" "g.(?_8865006)_(11896206_?)del" "" "{PMID:Warthen 2006:16575836}, {PMID:Kamath 2009:19058200}" "" "3.03 Mb deletion (8813006-11844206 NCBI35)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000595552" "0" "90" "20" "10432766" "13712393" "del" "0" "03298" "JAG1_000512" "g.(?_10432766)_(13712393_?)del" "" "{PMID:Kamath 2009:19058200}" "" "3.28 Mb deletion (10380766-13660393 NCBI35)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595553" "0" "90" "20" "8573437" "12418350" "del" "0" "03298" "JAG1_000499" "g.(?_8573437)_(12418350_?)del" "" "{PMID:Kamath 2009:19058200}" "" "3.84 Mb deletion (8521437-12366350 NCBI35)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000595554" "0" "90" "20" "7435615" "11320829" "del" "0" "03298" "JAG1_000497" "g.(?_7435615)_(11320829_?)del" "" "{PMID:Kamath 2009:19058200}" "" "3.89 Mb deletion (7383615-11268829 NCBI35)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000595555" "0" "90" "20" "8096130" "12096897" "del" "0" "03298" "JAG1_000498" "g.(?_8096130)_(12096897_?)del" "" "{PMID:Kamath 2009:19058200}" "" "4.00 Mb deletion (8044130-12044897 NCBI35)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000595556" "0" "90" "20" "10004874" "14172443" "del" "0" "03298" "JAG1_000510" "g.(?_10004874)_(14172443_?)del" "" "{PMID:Kamath 2009:19058200}" "" "4.17 Mb deletion (9952874-14120443 NCBI35)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595557" "0" "90" "20" "8808310" "13247568" "del" "0" "03298" "JAG1_000501" "g.(?_8808310)_(13247568_?)del" "" "{PMID:Kamath 2009:19058200}" "" "4.44 Mb deletion (8756310-13195568 NCBI35)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595558" "21" "90" "20" "7106353" "12769237" "del" "0" "03298" "JAG1_000496" "g.(?_7106353)_(12769237_?)del" "" "{PMID:Kamath 2009:19058200}" "" "5.66 Mb deletion (7054353-12717237 NCBI35)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000595559" "0" "90" "20" "9091235" "15063679" "del" "0" "03298" "JAG1_000503" "g.(?_9091235)_(15063679_?)del" "" "{PMID:Kamath 2009:19058200}" "" "5.97 Mb deletion (9039235-15011679 NCBI35)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000595560" "0" "90" "20" "4039627" "11442419" "del" "0" "03298" "JAG1_000494" "g.(?_4039627)_(11442419_?)del" "" "{PMID:Kamath 2009:19058200}" "" "7.40 Mb deletion (3987627-11390419 NCBI35)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000595561" "0" "90" "20" "5761024" "14066276" "del" "0" "03298" "JAG1_000495" "g.(?_5761024)_(14066276_?)del" "" "{PMID:Kamath 2009:19058200}" "" "8.31 Mb deletion (5709024-14014276 NCBI35)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000595562" "0" "90" "20" "9685413" "20253840" "del" "0" "03298" "JAG1_000508" "g.(?_9685413)_(20253840)?)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "10.57 Mb deletion (9685413-20253840)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595564" "0" "90" "20" "10618332" "10654694" "del" "0" "03298" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Rand 1995:7485156}" "" "gene deletion" "" "Unknown" "" "" "0" "" "" "g.(?_10637684)_(10674046_?)del" "" "pathogenic (dominant)" "" "0000595565" "0" "90" "20" "10618332" "10654694" "del" "0" "03298" "JAG1_000517" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "whole gene deletion" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595566" "0" "90" "20" "10618332" "10654694" "del" "0" "03298" "JAG1_000517" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "whole gene deletion" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595567" "0" "90" "20" "10618332" "10654694" "del" "0" "03298" "JAG1_000517" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "whole gene deletion" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595568" "0" "90" "20" "10618332" "10654694" "del" "0" "03298" "JAG1_000517" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "whole gene deletion" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595569" "0" "90" "20" "10653348" "10654694" "dup" "0" "03298" "JAG1_000520" "g.(10644663_10653348)_(10654694_?)dup" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}" "" "duplication ex1-25" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595570" "0" "90" "20" "10639115" "10644663" "dup" "0" "03298" "JAG1_000605" "g.(10637107_10639115)_(10644663_10653348)dup" "" "{PMID:Warthen 2006:16575836}" "" "duplication ex3-4" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595571" "0" "90" "20" "10643843" "11323281" "inv" "0" "03298" "JAG1_000745" "g.(?_10643843)_(11323281_?)inv" "" "{PMID:Gilbert 2019:31343788}, {DOI:Gilbert 2019:10.1002/humu.23879}, Rajagopalan in prep." "" "inversion (10663195-11342633 hg38?)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000595572" "0" "50" "20" "0" "0" "" "0" "03298" "JAG1_000492" "g.pter_(5100001_17900000)delins[NC_000002.11:g.(135100001_136800000)_qterinv]" "" "{PMID:Spinner 1994:8037203}, {PMID:Kamath 2009:19058200}" "" "t(2;20)(q21.3;p12)" "" "Germline/De novo (untested)" "" "" "0" "" "46,XX, t(2;20)(q21.3;p12)" "g.pter_(5100001_17900000)delins[NC_000002.12:g.(134300001_136100000)_qterinv]" "" "VUS" "" "0000595573" "0" "50" "20" "0" "0" "" "0" "03298" "JAG1_000493" "g.pter_(17900001_25600000)delins[NC_000001.10:g.pter_(92000001_94700000)]" "" "{PMID:Warthen 2006:16575836}" "" "t(1;20)(p.22.1;p11.2)" "" "Germline/De novo (untested)" "" "" "0" "" "t(1;20)(p.22.1;p11.2)" "g.pter_(17900001_25700000)delins[NC_000001.11:g.pter_(91500001_94300000)]" "" "VUS" "" "0000617978" "0" "50" "20" "10620250" "10620250" "subst" "4.06111E-6" "01804" "JAG1_000615" "g.10620250G>A" "" "" "" "JAG1(NM_000214.2):c.3553C>T (p.(Pro1185Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639602G>A" "" "VUS" "" "0000617979" "0" "30" "20" "10620470" "10620470" "subst" "9.74635E-5" "02325" "JAG1_000616" "g.10620470G>A" "" "" "" "JAG1(NM_000214.3):c.3333C>T (p.T1111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639822G>A" "" "likely benign" "" "0000617980" "0" "30" "20" "10620474" "10620474" "subst" "4.46697E-5" "01943" "JAG1_000617" "g.10620474T>C" "" "" "" "JAG1(NM_000214.3):c.3329A>G (p.N1110S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10639826T>C" "" "likely benign" "" "0000617981" "0" "30" "20" "10621924" "10621924" "dup" "0" "02327" "JAG1_000618" "g.10621924dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10641276dup" "" "likely benign" "" "0000617982" "0" "10" "20" "10622258" "10622258" "subst" "0.00413106" "02330" "JAG1_000022" "g.10622258G>A" "" "" "" "JAG1(NM_000214.3):c.2766C>T (p.D922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10641610G>A" "" "benign" "" "0000617983" "0" "10" "20" "10624398" "10624398" "subst" "0.00423147" "02327" "JAG1_000034" "g.10624398G>A" "" "" "" "JAG1(NM_000214.3):c.2458+28C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10643750G>A" "" "benign" "" "0000617984" "0" "10" "20" "10625554" "10625554" "subst" "0.000332984" "02330" "JAG1_000619" "g.10625554C>T" "" "" "" "JAG1(NM_000214.3):c.2301G>A (p.T767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10644906C>T" "" "benign" "" "0000617985" "0" "30" "20" "10626044" "10626044" "subst" "0.000430936" "01943" "JAG1_000620" "g.10626044A>G" "" "" "" "JAG1(NM_000214.3):c.2073T>C (p.C691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10645396A>G" "" "likely benign" "" "0000617986" "0" "30" "20" "10629396" "10629397" "dup" "0" "02330" "JAG1_000621" "g.10629396_10629397dup" "" "" "" "JAG1(NM_000214.3):c.1396-19_1396-18dupTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10648748_10648749dup" "" "likely benign" "" "0000617987" "0" "30" "20" "10629763" "10629763" "dup" "0" "02330" "JAG1_000622" "g.10629763dup" "" "" "" "JAG1(NM_000214.3):c.1349-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10649115dup" "" "likely benign" "" "0000617988" "0" "30" "20" "10630968" "10630968" "subst" "0" "02327" "JAG1_000623" "g.10630968G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10650320G>T" "" "likely benign" "" "0000617989" "0" "50" "20" "10632234" "10632234" "subst" "9.3585E-5" "02330" "JAG1_000069" "g.10632234G>A" "" "" "" "JAG1(NM_000214.2):c.1115C>T (p.(Ser372Phe)), JAG1(NM_000214.3):c.1115C>T (p.S372F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10651586G>A" "" "VUS" "" "0000617990" "0" "30" "20" "10632891" "10632891" "subst" "0.000483818" "02330" "JAG1_000073" "g.10632891A>G" "" "" "" "JAG1(NM_000214.3):c.894T>C (p.N298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10652243A>G" "" "likely benign" "" "0000624119" "0" "90" "20" "10621760" "10621760" "subst" "0" "02325" "JAG1_000524" "g.10621760C>A" "" "" "" "JAG1(NM_000214.3):c.3048+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10641112C>A" "" "pathogenic" "" "0000624120" "0" "70" "20" "10639322" "10639322" "subst" "0" "02325" "JAG1_000411" "g.10639322G>C" "" "" "" "JAG1(NM_000214.3):c.488C>G (p.P163R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10658674G>C" "" "likely pathogenic" "" "0000650723" "1" "50" "20" "10620523" "10620523" "subst" "8.53686E-5" "03575" "JAG1_000624" "g.10620523G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs75652750}" "Germline" "" "rs75652750" "0" "" "" "g.10639875G>A" "" "VUS" "" "0000650724" "1" "30" "20" "10628673" "10628673" "subst" "0.000227444" "03575" "JAG1_000469" "g.10628673G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs201785359}" "Germline" "" "rs201785359" "0" "" "" "g.10648025G>A" "" "likely benign" "" "0000650726" "1" "30" "20" "10630934" "10630934" "subst" "5.28331E-5" "03575" "JAG1_000066" "g.10630934C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous; {DB:CLININrs181970528}" "Germline" "" "rs181970528" "0" "" "" "g.10650286C>T" "" "likely benign" "" "0000650727" "1" "90" "20" "10654176" "10654176" "subst" "0" "03575" "JAG1_000625" "g.10654176C>T" "1/2785 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863223647}" "Germline" "" "rs863223647" "0" "" "" "g.10673528C>T" "" "pathogenic" "" "0000658708" "0" "30" "20" "10621489" "10621489" "subst" "0.000125894" "01943" "JAG1_000626" "g.10621489C>T" "" "" "" "JAG1(NM_000214.3):c.3141G>A (p.S1047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10640841C>T" "" "likely benign" "" "0000658709" "0" "10" "20" "10622090" "10622090" "del" "0" "02330" "JAG1_000627" "g.10622090del" "" "" "" "JAG1(NM_000214.3):c.2916+27delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10641442del" "" "benign" "" "0000658710" "0" "30" "20" "10622214" "10622214" "subst" "0.00192595" "02326" "JAG1_000020" "g.10622214C>T" "" "" "" "JAG1(NM_000214.2):c.2810G>A (p.(Arg937Gln)), JAG1(NM_000214.3):c.2810G>A (p.R937Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10641566C>T" "" "likely benign" "" "0000658711" "0" "50" "20" "10625624" "10625624" "subst" "0.000921812" "02325" "JAG1_000458" "g.10625624C>T" "" "" "" "JAG1(NM_000214.3):c.2231G>A (p.R744Q, p.(Arg744Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10644976C>T" "" "VUS" "" "0000658712" "0" "70" "20" "10630973" "10630973" "subst" "0" "02325" "JAG1_000067" "g.10630973C>T" "" "" "" "JAG1(NM_000214.3):c.1156G>A (p.G386R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10650325C>T" "" "likely pathogenic" "" "0000658713" "0" "30" "20" "10639284" "10639284" "subst" "0.000414344" "01943" "JAG1_000628" "g.10639284C>T" "" "" "" "JAG1(NM_000214.3):c.526G>A (p.V176I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10658636C>T" "" "likely benign" "" "0000658714" "0" "10" "20" "10653442" "10653442" "subst" "0.00331706" "02330" "JAG1_000099" "g.10653442G>A" "" "" "" "JAG1(NM_000214.3):c.294C>T (p.S98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10672794G>A" "" "benign" "" "0000669659" "3" "30" "20" "10630934" "10630934" "subst" "5.28331E-5" "03575" "JAG1_000066" "g.10630934C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs181970528}" "Germline" "" "rs181970528" "0" "" "" "g.10650286C>T" "" "likely benign" "" "0000673557" "0" "90" "20" "10621887" "10621887" "dup" "0" "03695" "JAG1_000629" "g.10621887dup" "" "" "" "2922dupT" "" "De novo" "" "" "0" "" "" "g.10641239dup" "" "pathogenic" "" "0000673633" "0" "70" "20" "10625030" "10625030" "del" "0" "03695" "JAG1_000630" "g.10625030del" "" "" "" "2347delA" "" "De novo" "" "" "0" "" "" "g.10644382del" "" "likely pathogenic" "" "0000673843" "0" "90" "20" "10639278" "10639278" "del" "0" "03695" "JAG1_000631" "g.10639278del" "" "" "" "532delC" "" "De novo" "" "" "0" "" "" "g.10658630del" "" "pathogenic" "" "0000681555" "0" "50" "20" "10620522" "10620522" "subst" "0.000154473" "01943" "JAG1_000632" "g.10620522C>T" "" "" "" "JAG1(NM_000214.3):c.3281G>A (p.R1094Q, p.(Arg1094Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681556" "0" "30" "20" "10621808" "10621808" "subst" "6.09598E-5" "01943" "JAG1_000633" "g.10621808C>T" "" "" "" "JAG1(NM_000214.3):c.3001G>A (p.A1001T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681557" "0" "50" "20" "10625818" "10625818" "subst" "1.2182E-5" "02325" "JAG1_000634" "g.10625818C>T" "" "" "" "JAG1(NM_000214.3):c.2200G>A (p.G734S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681558" "0" "30" "20" "10632358" "10632358" "subst" "0.000412812" "02330" "JAG1_000635" "g.10632358T>C" "" "" "" "JAG1(NM_000214.3):c.1007-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682885" "0" "90" "20" "0" "0" "" "0" "00006" "JAG1_000000" "g.10618332_10654694{0}" "" "{PMID:Oda 1997:9207787}" "" "" "600 kb deletion incl. JAG1" "Germline" "" "" "0" "" "" "g.10637684_10674046{0}" "" "pathogenic (dominant)" "" "0000682886" "0" "90" "20" "10622501" "10622501" "subst" "0.0640936" "00006" "JAG1_000028" "g.10622501G>C" "" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Germline" "" "rs35761929" "0" "" "" "g.10641853G>C" "" "pathogenic" "" "0000682887" "0" "90" "20" "10653603" "10653603" "subst" "0.000632364" "00006" "JAG1_000437" "g.10653603C>A" "" "{PMID:Kohsaka 2002:12297837}" "" "" "" "Germline" "" "" "0" "" "" "g.10672955C>A" "" "pathogenic" "" "0000682888" "0" "90" "20" "10625004" "10625004" "subst" "0" "00006" "JAG1_000555" "g.10625004C>A" "" "{PMID:Kim 2017:28683534}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644356C>A" "" "pathogenic (dominant)" "" "0000682889" "0" "90" "20" "10639260" "10639260" "subst" "0" "00006" "JAG1_000404" "g.10639260G>C" "" "{PMID:Boyer 2005:15772854}" "" "R184G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658612G>C" "" "pathogenic (dominant)" "" "0000682890" "0" "90" "20" "10639151" "10639151" "subst" "0" "00006" "JAG1_000396" "g.10639151C>A" "" "{PMID:Boyer 2005:15772854}" "" "C220F" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658503C>A" "" "pathogenic (dominant)" "" "0000682891" "0" "90" "20" "10633151" "10633151" "subst" "0" "00006" "JAG1_000374" "g.10633151C>A" "" "{PMID:Boyer 2005:15772854}" "" "C284F" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652503C>A" "" "pathogenic (dominant)" "" "0000682892" "0" "90" "20" "10633138" "10633138" "subst" "0" "00006" "JAG1_000372" "g.10633138C>G" "" "{PMID:Boyer 2005:15772854}" "" "W288C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652490C>G" "" "pathogenic (dominant)" "" "0000682893" "0" "90" "20" "10625800" "10625800" "subst" "0" "00006" "JAG1_000284" "g.10625800A>G" "" "{PMID:Boyer 2005:15772854}" "" "C740R" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645152A>G" "" "pathogenic (dominant)" "" "0000682894" "0" "90" "20" "10621760" "10621760" "subst" "0" "00006" "JAG1_000524" "g.10621760C>A" "" "{PMID:Boyer 2005:15772854}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641112C>A" "" "pathogenic (dominant)" "" "0000682895" "0" "90" "20" "10653594" "10653594" "subst" "0" "00006" "JAG1_000436" "g.10653594C>A" "" "{PMID:Boyer 2005:15772854}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672946C>A" "" "pathogenic (dominant)" "" "0000682896" "0" "90" "20" "10644610" "10644610" "subst" "0" "00006" "JAG1_000092" "g.10644610C>T" "" "{PMID:Boyer 2005:15772854}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10663962C>T" "" "pathogenic (dominant)" "" "0000682897" "0" "90" "20" "10633237" "10633237" "subst" "0" "00006" "JAG1_000385" "g.10633237G>C" "" "{PMID:Boyer 2005:15772854}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652589G>C" "" "pathogenic (dominant)" "" "0000682898" "0" "90" "20" "10632809" "10632809" "subst" "0" "00006" "JAG1_000071" "g.10632809C>A" "" "{PMID:Boyer 2005:15772854}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652161C>A" "" "pathogenic (dominant)" "" "0000682899" "0" "90" "20" "10631007" "10631008" "ins" "0" "00006" "JAG1_000354" "g.10631007_10631008insA" "" "{PMID:Boyer 2005:15772854}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10650359_10650360insA" "" "pathogenic (dominant)" "" "0000682900" "0" "90" "20" "10630961" "10630961" "subst" "0" "00006" "JAG1_000350" "g.10630961G>A" "" "{PMID:Boyer 2005:15772854}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10650313G>A" "" "pathogenic (dominant)" "" "0000682901" "0" "90" "20" "10629280" "10629281" "del" "0" "00006" "JAG1_000060" "g.10629280_10629281del" "" "{PMID:Boyer 2005:15772854}" "" "1485-1486delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648632_10648633del" "" "pathogenic (dominant)" "" "0000682902" "0" "90" "20" "10628614" "10628615" "del" "0" "00006" "JAG1_000321" "g.10628614_10628615del" "" "{PMID:Boyer 2005:15772854}" "" "1713-1714delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10647966_10647967del" "" "pathogenic (dominant)" "" "0000682903" "0" "90" "20" "10626632" "10626632" "dup" "0" "00006" "JAG1_000686" "g.10626632dup" "" "{PMID:Boyer 2005:15772854}" "" "1986-1987insC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645984dup" "" "pathogenic (dominant)" "" "0000682904" "0" "90" "20" "10626044" "10626044" "dup" "0" "00006" "JAG1_000299" "g.10626044dup" "" "{PMID:Boyer 2005:15772854}" "" "2073-2074insT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645396dup" "" "pathogenic (dominant)" "" "0000682905" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Boyer 2005:15772854}" "" "2122-2125delCAGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000682906" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Boyer 2005:15772854}" "" "2122-2125delCAGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000682907" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Boyer 2005:15772854}" "" "2122-2125delCAGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000682908" "0" "90" "20" "10624421" "10624424" "del" "0" "00006" "JAG1_000271" "g.10624421_10624424del" "" "{PMID:Boyer 2005:15772854}" "" "2458+2delTAAG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10643773_10643776del" "" "pathogenic (dominant)" "" "0000682909" "0" "90" "20" "10622326" "10622326" "subst" "0" "00006" "JAG1_000024" "g.10622326G>A" "" "{PMID:Boyer 2005:15772854}" "" "2698C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641678G>A" "" "pathogenic (dominant)" "" "0000682910" "0" "90" "20" "10622254" "10622254" "subst" "0" "00006" "JAG1_000249" "g.10622254G>A" "" "{PMID:Boyer 2005:15772854}" "" "2770C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641606G>A" "" "pathogenic (dominant)" "" "0000682911" "0" "90" "20" "10622149" "10622150" "del" "0" "00006" "JAG1_000236" "g.10622149_10622150del" "" "{PMID:Boyer 2005:15772854}" "" "2874-2875delTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641501_10641502del" "" "pathogenic (dominant)" "" "0000682912" "0" "90" "20" "10621793" "10621797" "dup" "0" "00006" "JAG1_000218" "g.10621793_10621797dup" "" "{PMID:Boyer 2005:15772854}" "" "3016-3017insTTCCC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641145_10641149dup" "" "pathogenic (dominant)" "" "0000682913" "0" "90" "20" "10626115" "10630930" "del" "0" "00006" "JAG1_000685" "g.10626115_10630930del" "" "{PMID:Boyer 2005:15772854}" "" "1199-1202delGCCC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645467_10650282del" "" "pathogenic (dominant)" "" "0000682914" "11" "90" "20" "10630924" "10630924" "dup" "0" "00006" "JAG1_000169" "g.10630924dup" "" "{PMID:Yuan 2001:11359464}" "" "1665insA" "" "Germline" "" "" "0" "" "" "g.10650276dup" "" "pathogenic (dominant)" "" "0000682915" "11" "90" "20" "10630924" "10630924" "dup" "0" "00006" "JAG1_000169" "g.10630924dup" "" "{PMID:Yuan 2001:11359464}" "" "1666insA" "" "Germline" "" "" "0" "" "" "g.10650276dup" "" "pathogenic (dominant)" "" "0000682916" "11" "90" "20" "10637098" "10637098" "subst" "0" "00006" "JAG1_000081" "g.10637098G>A" "" "{PMID:Yuan 2001:11359464}" "" "1162C>T" "" "Germline" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic (dominant)" "" "0000682917" "0" "90" "20" "10637098" "10637098" "subst" "0" "00006" "JAG1_000081" "g.10637098G>A" "" "{PMID:Yuan 2001:11359464}" "" "1162C>T" "" "De novo" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic (dominant)" "" "0000682918" "0" "90" "20" "10629274" "10629274" "subst" "0" "00006" "JAG1_000698" "g.10629274T>C" "" "{PMID:Yuan 2001:11359464}" "" "1951G>A" "" "De novo" "" "" "0" "" "" "g.10648626T>C" "" "pathogenic (dominant)" "" "0000682919" "0" "90" "20" "10637108" "10637108" "subst" "0" "00006" "JAG1_000186" "g.10637108T>C" "" "{PMID:Yuan 2001:11359464}" "" "1154‐2A>G" "" "De novo" "" "" "0" "" "" "g.10656460T>C" "" "pathogenic (dominant)" "" "0000682920" "11" "90" "20" "10622505" "10622506" "ins" "0" "00006" "JAG1_000669" "g.10622505_10622506insA" "" "{PMID:Yuan 2001:11359464}" "" "3067insT" "" "Germline" "" "" "0" "" "" "g.10641857_10641858insA" "" "pathogenic (dominant)" "" "0000682921" "0" "90" "20" "10622326" "10622326" "subst" "0" "00006" "JAG1_000024" "g.10622326G>A" "" "{PMID:Yuan 2001:11359464}" "" "3157C>T" "" "De novo" "" "" "0" "" "" "g.10641678G>A" "" "pathogenic (dominant)" "" "0000682922" "11" "90" "20" "10620578" "10620579" "del" "0" "00006" "JAG1_000183" "g.10620578_10620579del" "" "{PMID:Yuan 2001:11359464}" "" "3683delCT" "" "Germline" "" "" "0" "" "" "g.10639930_10639931del" "" "pathogenic (dominant)" "" "0000682923" "11" "90" "20" "10620578" "10620579" "del" "0" "00006" "JAG1_000183" "g.10620578_10620579del" "" "{PMID:Yuan 2001:11359464}" "" "3683delCT" "" "Germline" "" "" "0" "" "" "g.10639930_10639931del" "" "pathogenic (dominant)" "" "0000682924" "21" "90" "20" "10621773" "10621774" "dup" "0" "00006" "JAG1_000184" "g.10621773_10621774dup" "" "{PMID:Yuan 2001:11359464}" "" "3495insTA" "" "Germline" "" "" "0" "" "" "g.10641125_10641126dup" "" "pathogenic (dominant)" "" "0000682925" "0" "90" "20" "10618332" "10654694" "del" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Yuan 2001:11359464}" "" "1.3MB del" "" "De novo" "" "" "0" "" "" "g.(?_10637684)_(10674046_?)del" "" "pathogenic (dominant)" "" "0000682926" "0" "90" "20" "10618332" "10654694" "del" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Yuan 1998:9700188}" "" "" "1.3 Mb deletion" "Germline" "" "" "0" "" "" "g.(?_10637684)_(10674046_?)del" "" "pathogenic (dominant)" "" "0000682945" "0" "90" "20" "10653660" "10653660" "subst" "0" "00006" "JAG1_000639" "g.10653660G>T" "" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "CM030050" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10673012G>T" "" "pathogenic (dominant)" "" "0000682946" "0" "90" "20" "10653353" "10653353" "subst" "0" "00006" "JAG1_000419" "g.10653353C>T" "" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672705C>T" "" "pathogenic (dominant)" "" "0000682947" "0" "90" "20" "10639115" "10639115" "subst" "0" "00006" "JAG1_000640" "g.10639115C>G" "" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658467C>G" "" "pathogenic (dominant)" "" "0000682948" "0" "90" "20" "10633131" "10633131" "subst" "0" "00006" "JAG1_000596" "g.10633131G>A" "" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652483G>A" "" "pathogenic (dominant)" "" "0000682949" "0" "90" "20" "10628615" "10628615" "dup" "0" "00006" "JAG1_000322" "g.10628615dup" "" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "CI062270 insertion (Cys572Leufs*2)" "variant description conflicting" "Germline/De novo (untested)" "" "" "0" "" "" "g.10647967dup" "" "pathogenic (dominant)" "" "0000682950" "0" "90" "20" "10628713" "10628713" "subst" "0" "00006" "JAG1_000697" "g.10628713G>A" "" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648065G>A" "" "pathogenic (dominant)" "" "0000682951" "0" "90" "20" "10623143" "10623143" "subst" "0" "00006" "JAG1_000670" "g.10623143G>T" "" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10642495G>T" "" "pathogenic (dominant)" "" "0000682952" "0" "10" "20" "10653469" "10653469" "subst" "0.096008" "00006" "JAG1_000101" "g.10653469C>T" "0.08" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline" "" "" "0" "" "" "g.10672821C>T" "" "benign" "" "0000682953" "0" "10" "20" "10644811" "10644811" "subst" "0" "00006" "JAG1_000726" "g.10644811G>A" "0.10" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline" "" "" "0" "" "" "g.10664163G>A" "" "benign" "" "0000682954" "0" "10" "20" "10639385" "10639385" "subst" "0.439159" "00006" "JAG1_000482" "g.10639385A>G" "0.56" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline" "" "" "0" "" "" "g.10658737A>G" "" "benign" "" "0000682955" "0" "10" "20" "10639222" "10639222" "subst" "0.10558" "00006" "JAG1_000085" "g.10639222G>A" "0.18" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline" "" "" "0" "" "" "g.10658574G>A" "" "benign" "" "0000682956" "0" "10" "20" "10637057" "10637057" "subst" "0.0726782" "00006" "JAG1_000079" "g.10637057T>C" "0.09" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline" "" "" "0" "" "" "g.10656409T>C" "" "benign" "" "0000682957" "0" "10" "20" "10633237" "10633237" "subst" "0.456237" "00006" "JAG1_000078" "g.10633237G>A" "0.53" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline" "" "" "0" "" "" "g.10652589G>A" "" "benign" "" "0000682958" "0" "10" "20" "10632861" "10632861" "subst" "0.0373325" "00006" "JAG1_000478" "g.10632861G>A" "0.08" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline" "" "" "0" "" "" "g.10652213G>A" "" "benign" "" "0000682959" "0" "10" "20" "10625804" "10625804" "subst" "0.111844" "00006" "JAG1_000460" "g.10625804T>G" "0.13" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline" "" "" "0" "" "" "g.10645156T>G" "" "benign" "" "0000682960" "0" "10" "20" "10624502" "10624502" "subst" "0.0222216" "00006" "JAG1_000037" "g.10624502G>A" "0.02" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline" "" "" "0" "" "" "g.10643854G>A" "" "benign" "" "0000682961" "0" "10" "20" "10624396" "10624396" "subst" "0.0306913" "00006" "JAG1_000033" "g.10624396T>C" "0,11" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline" "" "" "0" "" "" "g.10643748T>C" "" "benign" "" "0000682962" "0" "10" "20" "10622081" "10622081" "del" "0" "00006" "JAG1_000627" "g.10622081del" "0.43" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline" "" "" "0" "" "" "g.10641433del" "" "benign" "" "0000682963" "0" "10" "20" "10620386" "10620386" "subst" "0.651153" "00006" "JAG1_000007" "g.10620386A>G" "0.75" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline" "" "" "0" "" "" "g.10639738A>G" "" "benign" "" "0000682964" "0" "10" "20" "10620275" "10620275" "subst" "0.242743" "00006" "JAG1_000002" "g.10620275G>A" "" "{PMID:VĂĄzquez-MartĂ­nez 2014:25606387}" "" "" "" "Germline" "" "" "0" "" "" "g.10639627G>A" "" "benign" "" "0000682965" "0" "70" "20" "10625605" "10625605" "dup" "0" "00006" "JAG1_000676" "g.10625605dup" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "g.10644957dup" "" "likely pathogenic (dominant)" "" "0000682966" "0" "70" "20" "10625892" "10625892" "subst" "0" "00006" "JAG1_000680" "g.10625892C>A" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "g.10645244C>A" "" "likely pathogenic (dominant)" "" "0000682967" "0" "70" "20" "10627604" "10627604" "subst" "0" "00006" "JAG1_000689" "g.10627604C>A" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "g.10646956C>A" "" "likely pathogenic (dominant)" "" "0000682968" "0" "70" "20" "10630924" "10630924" "dup" "0" "00006" "JAG1_000169" "g.10630924dup" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "g.10650276dup" "" "likely pathogenic (dominant)" "" "0000682969" "0" "70" "20" "10627612" "10627612" "dup" "0" "00006" "JAG1_000691" "g.10627612dup" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "g.10646964dup" "" "likely pathogenic (dominant)" "" "0000682970" "0" "70" "20" "10653425" "10653425" "dup" "0" "00006" "JAG1_000112" "g.10653425dup" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "g.10672777dup" "" "likely pathogenic (dominant)" "" "0000682992" "0" "90" "20" "10654278" "10654278" "subst" "0" "04243" "JAG1_000734" "g.10654278G>A" "not found in gnomAD v2.1.1" "{PMID:Stalke 2018:28776642} \r\n{PMID:Buhl 2022:35761784}" "" "" "ACMG PS2, PM2, PS4_m, PS3_m; luciferase assay in HEK293T and Huh7 cell lines using a vector containing the JAG1 5’UTR and promoter regions upstream of the firefly luciferase coding sequence showed significantly decreased luciferase activity for the variant" "De novo" "" "" "0" "" "" "g.10673630G>A" "" "pathogenic" "ACMG" "0000682993" "0" "50" "20" "10621902" "10621902" "subst" "0" "00006" "JAG1_000664" "g.10621902T>C" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "g.10641254T>C" "" "VUS" "" "0000683012" "0" "90" "20" "10654097" "10654694" "del" "0" "00006" "JAG1_000731" "g.(10653655_10654097)_(10654694_?)del" "" "{PMID:Samejima 2007:17949281}" "" "del ex1" "" "Germline" "" "" "0" "" "" "g.(10673007_10673449)_(10674046_?)del" "" "pathogenic (dominant)" "" "0000683013" "0" "90" "20" "10633226" "10633226" "subst" "0" "00006" "JAG1_000381" "g.10633226C>A" "" "{PMID:Samejima 2007:17949281}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652578C>A" "" "pathogenic (dominant)" "" "0000683014" "0" "90" "20" "10633161" "10633161" "subst" "0" "00006" "JAG1_000375" "g.10633161G>A" "" "{PMID:Samejima 2007:17949281}" "" "" "" "Germline" "" "" "0" "" "" "g.10652513G>A" "" "pathogenic (dominant)" "" "0000683015" "0" "90" "20" "10632323" "10632323" "dup" "0" "00006" "JAG1_000359" "g.10632323dup" "" "{PMID:Samejima 2007:17949281}" "" "1026_1027insT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10651675dup" "" "pathogenic (dominant)" "" "0000683016" "0" "90" "20" "10632292" "10632292" "subst" "0" "00006" "JAG1_000357" "g.10632292C>A" "" "{PMID:Samejima 2007:17949281}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10651644C>A" "" "pathogenic (dominant)" "" "0000683017" "0" "90" "20" "10629708" "10629708" "subst" "0" "00006" "JAG1_000584" "g.10629708C>T" "" "{PMID:Samejima 2007:17949281}" "" "IVS11" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10649060C>T" "" "pathogenic (dominant)" "" "0000683018" "0" "90" "20" "10629708" "10629708" "subst" "0" "00006" "JAG1_000584" "g.10629708C>T" "" "{PMID:Samejima 2007:17949281}" "" "IVS11" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10649060C>T" "" "pathogenic (dominant)" "" "0000683019" "0" "90" "20" "10628608" "10628608" "subst" "0" "00006" "JAG1_000320" "g.10628608C>G" "" "{PMID:Samejima 2007:17949281}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10647960C>G" "" "pathogenic (dominant)" "" "0000683020" "0" "90" "20" "10625616" "10625616" "ins" "0" "00006" "JAG1_000678" "g.10625616dup" "" "{PMID:Samejima 2007:17949281}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644968dup" "" "pathogenic (dominant)" "" "0000683021" "0" "90" "20" "10622463" "10622463" "subst" "0" "00006" "JAG1_000263" "g.10622463G>A" "" "{PMID:Samejima 2007:17949281}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641815G>A" "" "pathogenic (dominant)" "" "0000683022" "0" "90" "20" "10622149" "10622150" "del" "0" "00006" "JAG1_000236" "g.10622149_10622150del" "" "{PMID:Samejima 2007:17949281}" "" "2874_2875delTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641501_10641502del" "" "pathogenic (dominant)" "" "0000683023" "0" "90" "20" "10621785" "10621797" "del" "0" "00006" "JAG1_000216" "g.10621785_10621797del" "" "{PMID:Samejima 2007:17949281}" "" "3012_3024delTTCCCCTTCAGCG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641137_10641149del" "" "pathogenic (dominant)" "" "0000683024" "0" "90" "20" "10621463" "10621466" "del" "0" "00006" "JAG1_000203" "g.10621463_10621466del" "" "{PMID:Samejima 2007:17949281}" "" "3164_3167delTAAG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10640815_10640818del" "" "pathogenic (dominant)" "" "0000683025" "0" "90" "20" "10627604" "10627604" "del" "0" "00006" "JAG1_000690" "g.10627604del" "" "{PMID:Li 2015:26076142}" "" "1868delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10646956del" "" "pathogenic (dominant)" "" "0000683026" "0" "90" "20" "10644611" "10644611" "subst" "0" "00006" "JAG1_000093" "g.10644611G>A" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10663963G>A" "" "pathogenic (dominant)" "" "0000683027" "0" "90" "20" "10633136" "10633136" "del" "0" "00006" "JAG1_000713" "g.10633136del" "" "{PMID:Li 2015:26076142}" "" "866delG" "" "De novo" "" "" "0" "" "" "g.10652488del" "" "pathogenic (dominant)" "" "0000683028" "0" "90" "20" "10630192" "10630195" "del" "0" "00006" "JAG1_000703" "g.10630192_10630195del" "" "{PMID:Li 2015:26076142}" "" "1323_1326delCTGG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10649544_10649547del" "" "pathogenic (dominant)" "" "0000683029" "0" "90" "20" "10627697" "10627701" "delins" "0" "00006" "JAG1_000695" "g.10627697_10627701delinsA" "" "{PMID:Li 2015:26076142}" "" "1771_1775delGTGCG1insT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10647049_10647053delinsA" "" "pathogenic (dominant)" "" "0000683030" "0" "90" "20" "10622485" "10622485" "subst" "0" "00006" "JAG1_000668" "g.10622485C>T" "" "{PMID:Li 2015:26076142}" "" "" "" "De novo" "" "" "0" "" "" "g.10641837C>T" "" "pathogenic (dominant)" "" "0000683031" "0" "90" "20" "10644609" "10644609" "dup" "0" "00006" "JAG1_000723" "g.10644609dup" "" "{PMID:Li 2015:26076142}" "" "439+2dupT" "" "De novo" "" "" "0" "" "" "g.10663961dup" "" "pathogenic (dominant)" "" "0000683032" "0" "90" "20" "10639260" "10639260" "subst" "0" "00006" "JAG1_000164" "g.10639260G>A" "" "{PMID:Li 2015:26076142}" "" "" "" "De novo" "" "" "0" "" "" "g.10658612G>A" "" "pathogenic (dominant)" "" "0000683033" "0" "90" "20" "10623135" "10623135" "subst" "0" "00006" "JAG1_000031" "g.10623135C>A" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10642487C>A" "" "pathogenic (dominant)" "" "0000683034" "0" "90" "20" "10632796" "10632805" "del" "0" "00006" "JAG1_000708" "g.10632796_10632805del" "" "{PMID:Li 2015:26076142}" "" "980_989delGGTATTCAGG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652148_10652157del" "" "pathogenic (dominant)" "" "0000683035" "0" "90" "20" "10632342" "10632342" "del" "0" "00006" "JAG1_000361" "g.10632342del" "" "{PMID:Li 2015:26076142}" "" "1007delC" "" "De novo" "" "" "0" "" "" "g.10651694del" "" "pathogenic (dominant)" "" "0000683036" "0" "90" "20" "10625625" "10625625" "del" "0" "00006" "JAG1_000679" "g.10625625del" "" "{PMID:Li 2015:26076142}" "" "2230delC" "" "De novo" "" "" "0" "" "" "g.10644977del" "" "pathogenic (dominant)" "" "0000683037" "0" "90" "20" "10623206" "10623206" "del" "0" "00006" "JAG1_000671" "g.10623206del" "" "{PMID:Li 2015:26076142}" "" "2502delC" "" "De novo" "" "" "0" "" "" "g.10642558del" "" "pathogenic (dominant)" "" "0000683038" "11" "90" "20" "10637098" "10637098" "subst" "0" "00006" "JAG1_000081" "g.10637098G>A" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic (dominant)" "" "0000683039" "11" "90" "20" "10623235" "10623235" "subst" "4.0623E-6" "00006" "JAG1_000163" "g.10623235G>A" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline" "" "" "0" "" "" "g.10642587G>A" "" "pathogenic (dominant)" "" "0000683040" "0" "90" "20" "10622326" "10622326" "subst" "0" "00006" "JAG1_000024" "g.10622326G>A" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641678G>A" "" "pathogenic (dominant)" "" "0000683041" "0" "90" "20" "10621490" "10621490" "subst" "0" "00006" "JAG1_000523" "g.10621490G>T" "" "{PMID:Li 2015:26076142}" "" "" "" "De novo" "" "" "0" "" "" "g.10640842G>T" "" "pathogenic (dominant)" "" "0000683042" "0" "90" "20" "10618332" "10654694" "del" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Li 2015:26076142}" "" "entire gene deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_10637684)_(10674046_?)del" "" "pathogenic (dominant)" "" "0000683043" "0" "90" "20" "10630980" "10630981" "del" "0" "00006" "JAG1_000705" "g.10630980_10630981del" "" "{PMID:Li 2015:26076142}" "" "1148_1149delGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10650332_10650333del" "" "pathogenic (dominant)" "" "0000683044" "0" "90" "20" "10621530" "10621531" "del" "0" "00006" "JAG1_000659" "g.10621530_10621531del" "" "{PMID:Li 2015:26076142}" "" "3099_3100delCA" "" "De novo" "" "" "0" "" "" "g.10640882_10640883del" "" "pathogenic (dominant)" "" "0000683045" "0" "90" "20" "10625625" "10625625" "subst" "0" "00006" "JAG1_000041" "g.10625625G>A" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic (dominant)" "" "0000683046" "0" "90" "20" "10629751" "10629765" "del" "0" "00006" "JAG1_000702" "g.10629751_10629765del" "" "{PMID:Li 2015:26076142}" "" "1349-10_1353delTATTTTTTAGATATT" "" "De novo" "" "" "0" "" "" "g.10649103_10649117del" "" "pathogenic (dominant)" "" "0000683047" "0" "90" "20" "10630973" "10630973" "subst" "0" "00006" "JAG1_000067" "g.10630973C>T" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10650325C>T" "" "pathogenic (dominant)" "" "0000683048" "0" "90" "20" "10644640" "10644640" "del" "0" "00006" "JAG1_000724" "g.10644640del" "" "{PMID:Li 2015:26076142}" "" "410delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10663992del" "" "pathogenic (dominant)" "" "0000683049" "0" "90" "20" "10639116" "10639117" "del" "0" "00006" "JAG1_000158" "g.10639116_10639117del" "" "{PMID:Li 2015:26076142}" "" "693_694delAG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658468_10658469del" "" "pathogenic (dominant)" "" "0000683050" "0" "90" "20" "10629298" "10629298" "subst" "0" "00006" "JAG1_000700" "g.10629298C>A" "" "{PMID:Li 2015:26076142}" "" "" "" "De novo" "" "" "0" "" "" "g.10648650C>A" "" "pathogenic (dominant)" "" "0000683051" "0" "90" "20" "10644610" "10644610" "subst" "0" "00006" "JAG1_000092" "g.10644610C>T" "" "{PMID:Li 2015:26076142}" "" "" "" "De novo" "" "" "0" "" "" "g.10663962C>T" "" "pathogenic (dominant)" "" "0000683052" "0" "90" "20" "10637045" "10654694" "del" "0" "00006" "JAG1_000717" "g.(10633247_10637045)_(10654694_?)del" "" "{PMID:Li 2015:26076142}" "" "del ex1-5" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683053" "21" "90" "20" "10637044" "10637044" "subst" "0" "00006" "JAG1_000718" "g.10637044A>C" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline" "" "" "0" "" "" "g.10656396A>C" "" "pathogenic (dominant)" "" "0000683054" "0" "90" "20" "10629721" "10629722" "del" "0" "00006" "JAG1_000701" "g.10629721_10629722del" "" "{PMID:Li 2015:26076142}" "" "1382_1383delAC" "" "De novo" "" "" "0" "" "" "g.10649073_10649074del" "" "pathogenic (dominant)" "" "0000683055" "0" "90" "20" "10627630" "10627630" "del" "0" "00006" "JAG1_000693" "g.10627630del" "" "{PMID:Li 2015:26076142}" "" "1842delC" "" "De novo" "" "" "0" "" "" "g.10646982del" "" "pathogenic (dominant)" "" "0000683056" "0" "90" "20" "10627613" "10627613" "del" "0" "00006" "JAG1_000692" "g.10627613del" "" "{PMID:Li 2015:26076142}" "" "1859delG" "" "De novo" "" "" "0" "" "" "g.10646965del" "" "pathogenic (dominant)" "" "0000683057" "0" "90" "20" "10622111" "10622115" "del" "0" "00006" "JAG1_000665" "g.10622111_10622115del" "" "{PMID:Li 2015:26076142}" "" "2909_2913delTGTCA" "" "De novo" "" "" "0" "" "" "g.10641463_10641467del" "" "pathogenic (dominant)" "" "0000683058" "0" "90" "20" "10626044" "10626047" "dup" "0" "00006" "JAG1_000681" "g.10626044_10626047dup" "" "{PMID:Li 2015:26076142}" "" "2070_2073dupCTGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645396_10645399dup" "" "pathogenic (dominant)" "" "0000683059" "0" "90" "20" "10621542" "10621542" "dup" "0" "00006" "JAG1_000660" "g.10621542dup" "" "{PMID:Li 2015:26076142}" "" "3088_3089insG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10640894dup" "" "pathogenic (dominant)" "" "0000683060" "0" "90" "20" "10644611" "10644611" "subst" "0" "00006" "JAG1_000093" "g.10644611G>A" "" "{PMID:Li 2015:26076142}" "" "" "" "De novo" "" "" "0" "" "" "g.10663963G>A" "" "pathogenic (dominant)" "" "0000683061" "0" "90" "20" "10633236" "10633236" "subst" "0" "00006" "JAG1_000716" "g.10633236C>A" "" "{PMID:Li 2015:26076142}" "" "" "" "De novo" "" "" "0" "" "" "g.10652588C>A" "" "pathogenic (dominant)" "" "0000683062" "0" "90" "20" "10626091" "10626091" "subst" "0" "00006" "JAG1_000684" "g.10626091A>C" "" "{PMID:Li 2015:26076142}" "" "" "" "De novo" "" "" "0" "" "" "g.10645443A>C" "" "pathogenic (dominant)" "" "0000683063" "21" "90" "20" "10621786" "10621798" "dup" "0" "00006" "JAG1_000526" "g.10621786_10621798dup" "" "{PMID:Li 2015:26076142}" "" "3008_3020insAGCCTTCCCCTTC" "" "Germline" "" "" "0" "" "" "g.10641138_10641150dup" "" "pathogenic (dominant)" "" "0000683064" "21" "90" "20" "10625792" "10625793" "del" "0" "00006" "JAG1_000561" "g.10625792_10625793del" "" "{PMID:Li 2015:26076142}" "" "2225_2226delTA" "" "Germline" "" "" "0" "" "" "g.10645144_10645145del" "" "pathogenic (dominant)" "" "0000683065" "0" "90" "20" "10637099" "10637099" "subst" "0" "00006" "JAG1_000719" "g.10637099G>T" "" "{PMID:Li 2015:26076142}" "" "" "" "De novo" "" "" "0" "" "" "g.10656451G>T" "" "pathogenic (dominant)" "" "0000683066" "0" "90" "20" "10653498" "10653498" "subst" "0" "00006" "JAG1_000727" "g.10653498T>C" "" "{PMID:Li 2015:26076142}" "" "" "" "De novo" "" "" "0" "" "" "g.10672850T>C" "" "pathogenic (dominant)" "" "0000683067" "0" "90" "20" "10618332" "10654694" "del" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Li 2015:26076142}" "" "entire gene deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_10637684)_(10674046_?)del" "" "pathogenic (dominant)" "" "0000683068" "0" "90" "20" "10618332" "10654694" "del" "0" "00006" "JAG1_000000" "g.(?_10618332)_(10654694_?)del" "" "{PMID:Li 2015:26076142}" "" "entire gene deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_10637684)_(10674046_?)del" "" "pathogenic (dominant)" "" "0000683069" "0" "90" "20" "10618332" "10653655" "del" "0" "00006" "JAG1_000656" "g.(?_10618332)_(10653655_10654097)del" "" "{PMID:Li 2015:26076142}" "" "del ex2-26" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683070" "0" "90" "20" "10622233" "10622233" "dup" "0" "00006" "JAG1_000667" "g.10622233dup" "" "{PMID:Li 2015:26076142}" "" "2791_2792insA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641585dup" "" "pathogenic (dominant)" "" "0000683071" "0" "90" "20" "10633183" "10633183" "del" "0" "00006" "JAG1_000715" "g.10633183del" "" "{PMID:Li 2015:26076142}" "" "819delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652535del" "" "pathogenic (dominant)" "" "0000683072" "0" "90" "20" "10626718" "10626719" "del" "0" "00006" "JAG1_000051" "g.10626718_10626719del" "" "{PMID:Li 2015:26076142}" "" "1899_1900delTG" "" "De novo" "" "" "0" "" "" "g.10646070_10646071del" "" "pathogenic (dominant)" "" "0000683073" "0" "90" "20" "10629267" "10629267" "del" "0" "00006" "JAG1_000059" "g.10629267del" "" "{PMID:Li 2015:26076142}" "" "1499delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648619del" "" "pathogenic (dominant)" "" "0000683074" "0" "90" "20" "10625541" "10625541" "del" "0" "00006" "JAG1_000673" "g.10625541del" "" "{PMID:Li 2015:26076142}" "" "2314delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644893del" "" "pathogenic (dominant)" "" "0000683075" "0" "90" "20" "10620547" "10620559" "del" "0" "00006" "JAG1_000657" "g.10620547_10620559del" "" "{PMID:Li 2015:26076142}" "" "3244_3256delATCTGTTGCTTGG" "" "De novo" "" "" "0" "" "" "g.10639899_10639911del" "" "pathogenic (dominant)" "" "0000683076" "21" "90" "20" "10621819" "10621819" "subst" "0" "00006" "JAG1_000530" "g.10621819G>T" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline" "" "" "0" "" "" "g.10641171G>T" "" "pathogenic (dominant)" "" "0000683077" "0" "90" "20" "10621778" "10621778" "subst" "0" "00006" "JAG1_000662" "g.10621778C>A" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641130C>A" "" "pathogenic (dominant)" "" "0000683078" "0" "90" "20" "10625034" "10625034" "subst" "0" "00006" "JAG1_000556" "g.10625034T>C" "" "{PMID:Li 2015:26076142}" "" "" "" "De novo" "" "" "0" "" "" "g.10644386T>C" "" "pathogenic (dominant)" "" "0000683079" "0" "90" "20" "10626046" "10626046" "subst" "0" "00006" "JAG1_000683" "g.10626046A>T" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645398A>T" "" "pathogenic (dominant)" "" "0000683080" "0" "90" "20" "10632888" "10632888" "del" "0" "00006" "JAG1_000711" "g.10632888del" "" "{PMID:Li 2015:26076142}" "" "897delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652240del" "" "pathogenic (dominant)" "" "0000683081" "0" "90" "20" "10621435" "10621436" "del" "0" "00006" "JAG1_000658" "g.10621435_10621436del" "" "{PMID:Li 2015:26076142}" "" "3194_3195delGA" "" "De novo" "" "" "0" "" "" "g.10640787_10640788del" "" "pathogenic (dominant)" "" "0000683082" "0" "90" "20" "10630237" "10630237" "dup" "0" "00006" "JAG1_000704" "g.10630237dup" "" "{PMID:Li 2015:26076142}" "" "1281_1282insT" "" "De novo" "" "" "0" "" "" "g.10649589dup" "" "pathogenic (dominant)" "" "0000683083" "21" "90" "20" "10621819" "10621819" "subst" "0" "00006" "JAG1_000530" "g.10621819G>T" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline" "" "" "0" "" "" "g.10641171G>T" "" "pathogenic (dominant)" "" "0000683084" "0" "90" "20" "10629721" "10629722" "del" "0" "00006" "JAG1_000701" "g.10629721_10629722del" "" "{PMID:Li 2015:26076142}" "" "1382_1383delAC" "" "De novo" "" "" "0" "" "" "g.10649073_10649074del" "" "pathogenic (dominant)" "" "0000683085" "11" "90" "20" "10626687" "10626687" "del" "0" "00006" "JAG1_000687" "g.10626687del" "" "{PMID:Li 2015:26076142}" "" "1931delG" "" "Germline" "" "" "0" "" "" "g.10646039del" "" "pathogenic (dominant)" "" "0000683086" "0" "90" "20" "10625568" "10625571" "dup" "0" "00006" "JAG1_000675" "g.10625568_10625571dup" "" "{PMID:Li 2015:26076142}" "" "2287_2288insAACG" "" "De novo" "" "" "0" "" "" "g.10644920_10644923dup" "" "pathogenic (dominant)" "" "0000683087" "0" "90" "20" "10627583" "10627584" "ins" "0" "00006" "JAG1_000688" "g.10627583_10627584insAC" "" "{PMID:Li 2015:26076142}" "" "" "" "De novo" "" "" "0" "" "" "g.10646935_10646936insAC" "" "pathogenic (dominant)" "" "0000683088" "0" "90" "20" "10654114" "10654114" "del" "0" "00006" "JAG1_000732" "g.10654114del" "" "{PMID:Li 2015:26076142}" "" "65delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10673466del" "" "pathogenic (dominant)" "" "0000683089" "0" "90" "20" "10632231" "10632231" "del" "0" "00006" "JAG1_000706" "g.10632231del" "" "{PMID:Li 2015:26076142}" "" "1118delC" "" "De novo" "" "" "0" "" "" "g.10651583del" "" "pathogenic (dominant)" "" "0000683090" "0" "90" "20" "10622326" "10622326" "subst" "0" "00006" "JAG1_000024" "g.10622326G>A" "" "{PMID:Li 2015:26076142}" "" "" "" "De novo" "" "" "0" "" "" "g.10641678G>A" "" "pathogenic (dominant)" "" "0000683091" "0" "90" "20" "10637098" "10637098" "subst" "0" "00006" "JAG1_000081" "g.10637098G>A" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic (dominant)" "" "0000683092" "0" "90" "20" "10633176" "10633176" "del" "0" "00006" "JAG1_000714" "g.10633176del" "" "{PMID:Li 2015:26076142}" "" "826delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652528del" "" "pathogenic (dominant)" "" "0000683093" "0" "90" "20" "10644610" "10644610" "subst" "0" "00006" "JAG1_000092" "g.10644610C>T" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10663962C>T" "" "pathogenic (dominant)" "" "0000683094" "0" "90" "20" "10621803" "10621803" "subst" "0" "00006" "JAG1_000222" "g.10621803G>T" "" "{PMID:Li 2015:26076142}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641155G>T" "" "pathogenic (dominant)" "" "0000683095" "0" "90" "20" "10630922" "10630922" "subst" "0" "00006" "JAG1_000065" "g.10630922G>A" "" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "De novo" "" "" "0" "" "" "g.10650274G>A" "" "pathogenic (dominant)" "" "0000683096" "0" "90" "20" "10628725" "10628725" "subst" "0" "00006" "JAG1_000328" "g.10628725G>A" "" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "De novo" "" "" "0" "" "" "g.10648077G>A" "" "pathogenic (dominant)" "" "0000683097" "0" "90" "20" "10644663" "10644663" "subst" "0" "00006" "JAG1_000109" "g.10644663C>G" "" "{PMID:Jurkiewicz 2005:15712272}" "" "" "" "De novo" "" "" "0" "" "" "g.10664015C>G" "" "pathogenic (dominant)" "" "0000683098" "0" "90" "20" "10653594" "10653594" "subst" "0" "00006" "JAG1_000436" "g.10653594C>A" "" "{PMID:Jung 2007:17414143}" "" "" "" "De novo" "" "" "0" "" "" "g.10672946C>A" "" "pathogenic (dominant)" "" "0000683099" "0" "90" "20" "10626632" "10626632" "dup" "0" "00006" "JAG1_000686" "g.10626632dup" "" "{PMID:Jung 2007:17414143}" "" "2399-2400insC" "" "De novo" "" "" "0" "" "" "g.10645984dup" "" "pathogenic (dominant)" "" "0000683100" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Jung 2007:17414143}" "" "2535-2538delCAGT" "" "De novo" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000683101" "0" "90" "20" "10621434" "10621434" "dup" "0" "00006" "JAG1_000202" "g.10621434dup" "" "{PMID:Jung 2007:17414143}" "" "3609_3610insA" "" "De novo" "" "" "0" "" "" "g.10640786dup" "" "pathogenic (dominant)" "" "0000683102" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Jung 2007:17414143}" "" "2535-2538delCAGT" "" "De novo" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000683103" "21" "90" "20" "10624466" "10624466" "subst" "0" "00006" "JAG1_000275" "g.10624466G>T" "" "{PMID:Jung 2007:17414143}" "" "" "" "Germline" "" "" "0" "" "" "g.10643818G>T" "" "pathogenic (dominant)" "" "0000683104" "21" "90" "20" "10633230" "10633230" "subst" "0" "00006" "JAG1_000382" "g.10633230G>A" "" "{PMID:Jung 2007:17414143}" "" "" "" "Germline" "" "" "0" "" "" "g.10652582G>A" "" "pathogenic (dominant)" "" "0000683105" "21" "90" "20" "10633237" "10633237" "" "0" "00006" "JAG1_000652" "g.10633237G>Y" "" "{PMID:Jung 2007:17414143}" "" "Y255X" "" "Germline" "" "" "0" "" "" "g.10652589G>Y" "" "pathogenic (dominant)" "" "0000683106" "11" "90" "20" "10639259" "10639259" "subst" "0" "00006" "JAG1_000087" "g.10639259C>T" "" "{PMID:Jung 2007:17414143}" "" "" "" "Germline" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic (dominant)" "" "0000683107" "11" "90" "20" "10633232" "10633232" "" "0" "00006" "JAG1_000653" "g.10633232^10633231C>T" "" "{PMID:Jung 2007:17414143}" "" "W257X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683108" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Heritage 2002:12442286}" "" "2531-2534delCAGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000683109" "0" "90" "20" "10639259" "10639259" "subst" "0" "00006" "JAG1_000087" "g.10639259C>T" "" "{PMID:Heritage 2002:12442286}" "" "R184H" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic (dominant)" "" "0000683110" "11" "90" "20" "10633113" "10633113" "subst" "0" "00006" "JAG1_000649" "g.10633113T>C" "" "{PMID:Heritage 2002:12442286}" "" "1299+3G>A" "" "Germline" "" "" "0" "" "" "g.10652465T>C" "" "pathogenic (dominant)" "" "0000683111" "0" "90" "20" "10644610" "10644610" "subst" "0" "00006" "JAG1_000092" "g.10644610C>T" "" "{PMID:Heritage 2002:12442286}" "" "852+1G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10663962C>T" "" "pathogenic (dominant)" "" "0000683112" "0" "90" "20" "10629280" "10629281" "del" "0" "00006" "JAG1_000060" "g.10629280_10629281del" "" "{PMID:Heritage 2000:11058898}" "" "1898delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648632_10648633del" "" "pathogenic (dominant)" "" "0000683113" "0" "90" "20" "10629280" "10629281" "del" "0" "00006" "JAG1_000060" "g.10629280_10629281del" "" "{PMID:Heritage 2000:11058898}" "" "1898delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648632_10648633del" "" "pathogenic (dominant)" "" "0000683114" "0" "90" "20" "10627752" "10627752" "subst" "0" "00006" "JAG1_000650" "g.10627752C>G" "" "{PMID:Heritage 2000:11058898}" "" "2134-1G>C" "" "De novo" "" "" "0" "" "" "g.10647104C>G" "" "pathogenic (dominant)" "" "0000683115" "0" "90" "20" "10629706" "10629706" "subst" "0" "00006" "JAG1_000645" "g.10629706T>C" "" "{PMID:Heritage 2000:11058898}" "" "1808+3A>G" "" "Germline" "yes" "" "0" "" "" "g.10649058T>C" "" "pathogenic (dominant)" "" "0000683116" "0" "90" "20" "10622326" "10622326" "subst" "0" "00006" "JAG1_000024" "g.10622326G>A" "" "{PMID:Heritage 2000:11058898}" "" "R900X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641678G>A" "" "pathogenic (dominant)" "" "0000683117" "0" "90" "20" "10639260" "10639260" "subst" "0" "00006" "JAG1_000164" "g.10639260G>A" "" "{PMID:Heritage 2000:11058898}" "" "R184C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658612G>A" "" "pathogenic (dominant)" "" "0000683118" "21" "90" "20" "10654120" "10654120" "subst" "0" "00006" "JAG1_000148" "g.10654120A>C" "" "{PMID:Izumi 2016:26463753}" "" "" "" "Germline" "" "" "0" "" "" "g.10673472A>C" "" "pathogenic (dominant)" "" "0000683119" "0" "90" "20" "10653594" "10653594" "subst" "0" "00006" "JAG1_000436" "g.10653594C>A" "" "{PMID:Guida 2011:22040217}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672946C>A" "" "pathogenic (dominant)" "" "0000683120" "0" "70" "20" "10624455" "10624455" "subst" "4.0619E-6" "00006" "JAG1_000274" "g.10624455G>A" "" "{PMID:Guida 2011:22040217}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10643807G>A" "" "likely pathogenic (dominant)" "" "0000683121" "0" "70" "20" "10622214" "10622214" "subst" "0.00192595" "00006" "JAG1_000020" "g.10622214C>T" "" "{PMID:Guida 2011:22040217}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641566C>T" "" "likely pathogenic (dominant)" "" "0000683122" "0" "70" "20" "10622214" "10622214" "subst" "0.00192595" "00006" "JAG1_000020" "g.10622214C>T" "" "{PMID:Guida 2011:22040217}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641566C>T" "" "likely pathogenic (dominant)" "" "0000683128" "0" "90" "20" "10618332" "10631009" "del" "0" "00006" "JAG1_000654" "g.(?_10618332)_(10631009_10632228)del" "" "{PMID:Guegan 2012:21752016}" "" "1121-?_3657+?del" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683129" "0" "90" "20" "10618332" "10633247" "del" "0" "00006" "JAG1_000655" "g.(?_10618332)_(10633247_10637045)del" "" "{PMID:Guegan 2012:21752016}" "" "756-?_3657+?del" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683130" "0" "90" "20" "10654170" "10654204" "del" "0" "00006" "JAG1_000733" "g.10654170_10654204del" "" "{PMID:Guegan 2012:21752016}" "" "-26del35" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10673522_10673556del" "" "pathogenic (dominant)" "" "0000683131" "0" "90" "20" "10654120" "10654120" "subst" "0" "00006" "JAG1_000147" "g.10654120A>G" "" "{PMID:Guegan 2012:21752016}" "" "L20P" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10673472A>G" "" "pathogenic (dominant)" "" "0000683132" "0" "90" "20" "10653525" "10653525" "dup" "0" "00006" "JAG1_000730" "g.10653525dup" "" "{PMID:Guegan 2012:21752016}" "" "211_212insT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672877dup" "" "pathogenic (dominant)" "" "0000683133" "0" "90" "20" "10653511" "10653511" "subst" "0" "00006" "JAG1_000729" "g.10653511G>T" "" "{PMID:Guegan 2012:21752016}" "" "F75L" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672863G>T" "" "pathogenic (dominant)" "" "0000683134" "0" "90" "20" "10653504" "10653504" "subst" "0" "00006" "JAG1_000728" "g.10653504A>G" "" "{PMID:Guegan 2012:21752016}" "" "C78R" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672856A>G" "" "pathogenic (dominant)" "" "0000683135" "0" "90" "20" "10644643" "10644644" "ins" "0" "00006" "JAG1_000725" "g.10644643_10644644insN[6]" "" "{PMID:Guegan 2012:21752016}" "" "406_407ins6" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683136" "0" "90" "20" "10644609" "10644612" "del" "0" "00006" "JAG1_000609" "g.10644609_10644612del" "" "{PMID:Guegan 2012:21752016}" "" "438_439+2delTCGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10663961_10663964del" "" "pathogenic (dominant)" "" "0000683137" "0" "90" "20" "10639274" "10639274" "subst" "0" "00006" "JAG1_000722" "g.10639274A>G" "" "{PMID:Guegan 2012:21752016}" "" "F179S" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658626A>G" "" "pathogenic (dominant)" "" "0000683138" "0" "90" "20" "10639127" "10639128" "ins" "0" "00006" "JAG1_000721" "g.10639127_10639128insN[8]" "" "{PMID:Guegan 2012:21752016}" "" "682_683ins8" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683139" "0" "90" "20" "10639115" "10639115" "subst" "0" "00006" "JAG1_000720" "g.10639115C>A" "" "{PMID:Guegan 2012:21752016}" "" "694+1G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658467C>A" "" "pathogenic (dominant)" "" "0000683140" "0" "90" "20" "10633208" "10633208" "subst" "0" "00006" "JAG1_000600" "g.10633208C>A" "" "{PMID:Guegan 2012:21752016}" "" "C265F" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652560C>A" "" "pathogenic (dominant)" "" "0000683141" "0" "90" "20" "10633116" "10633116" "subst" "0" "00006" "JAG1_000712" "g.10633116C>T" "" "{PMID:Guegan 2012:21752016}" "" "D296N" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652468C>T" "" "pathogenic (dominant)" "" "0000683142" "0" "90" "20" "10633136" "10633136" "del" "0" "00006" "JAG1_000713" "g.10633136del" "" "{PMID:Guegan 2012:21752016}" "" "866delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652488del" "" "pathogenic (dominant)" "" "0000683143" "0" "90" "20" "10632825" "10632825" "ins" "0" "00006" "JAG1_000710" "g.10632825A>T" "" "{PMID:Guegan 2012:21752016}" "" "930_931insG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652177A>T" "" "pathogenic (dominant)" "" "0000683144" "0" "90" "20" "10632268" "10632268" "subst" "0" "00006" "JAG1_000709" "g.10632268C>A" "" "{PMID:Guegan 2012:21752016}" "" "Y320X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10651620C>A" "" "pathogenic (dominant)" "" "0000683145" "0" "90" "20" "10632251" "10632251" "subst" "0" "00006" "JAG1_000707" "g.10632251C>T" "" "{PMID:Guegan 2012:21752016}" "" "E361X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10651603C>T" "" "pathogenic (dominant)" "" "0000683146" "0" "90" "20" "10629347" "10629347" "subst" "0" "00006" "JAG1_000582" "g.10629347dup" "" "{PMID:Guegan 2012:21752016}" "" "W366X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648699dup" "" "pathogenic (dominant)" "" "0000683147" "0" "90" "20" "10629292" "10629293" "dup" "0" "00006" "JAG1_000582" "g.10629292_10629293del" "" "{PMID:Guegan 2012:21752016}" "" "1419dupT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10648644_10648645del" "" "pathogenic (dominant)" "" "0000683148" "0" "90" "20" "10627709" "10627709" "del" "0" "00006" "JAG1_000699" "g.10627709del" "" "{PMID:Guegan 2012:21752016}" "" "1473_1474delTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10647061del" "" "pathogenic (dominant)" "" "0000683149" "0" "90" "20" "10627686" "10627686" "del" "0" "00006" "JAG1_000696" "g.10627686del" "" "{PMID:Guegan 2012:21752016}" "" "1763delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10647038del" "" "pathogenic (dominant)" "" "0000683150" "0" "90" "20" "10626045" "10626045" "del" "0" "00006" "JAG1_000694" "g.10626045C>T" "" "{PMID:Guegan 2012:21752016}" "" "1786delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645397C>T" "" "pathogenic (dominant)" "" "0000683151" "0" "90" "20" "10625868" "10625868" "subst" "0" "00006" "JAG1_000682" "g.10625868del" "" "{PMID:Guegan 2012:21752016}" "" "C691Y" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645220del" "" "pathogenic (dominant)" "" "0000683152" "0" "90" "20" "10625792" "10625793" "del" "0" "00006" "JAG1_000561" "g.10625792_10625793del" "" "{PMID:Guegan 2012:21752016}" "" "2150delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645144_10645145del" "" "pathogenic (dominant)" "" "0000683153" "0" "90" "20" "10625625" "10625625" "del" "0" "00006" "JAG1_000041" "g.10625625G>A" "" "{PMID:Guegan 2012:21752016}" "" "2225_2226delTA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644977G>A" "" "pathogenic (dominant)" "" "0000683154" "0" "90" "20" "10625580" "10625580" "subst" "0" "00006" "JAG1_000041" "g.10625580A>C" "" "{PMID:Guegan 2012:21752016}" "" "R744X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644932A>C" "" "pathogenic (dominant)" "" "0000683155" "0" "90" "20" "10625605" "10625605" "subst" "0" "00006" "JAG1_000676" "g.10625605dup" "" "{PMID:Guegan 2012:21752016}" "" "C759F" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644957dup" "" "pathogenic (dominant)" "" "0000683156" "0" "90" "20" "10625585" "10625585" "dup" "0" "00006" "JAG1_000676" "g.10625585dup" "" "{PMID:Guegan 2012:21752016}" "" "2250_2251insC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644937dup" "" "pathogenic (dominant)" "" "0000683157" "0" "90" "20" "10625550" "10625551" "dup" "0" "00006" "JAG1_000677" "g.10625550_10625551delinsA" "" "{PMID:Guegan 2012:21752016}" "" "2270_2271insG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644902_10644903delinsA" "" "pathogenic (dominant)" "" "0000683158" "0" "90" "20" "10625034" "10625034" "delins" "0" "00006" "JAG1_000674" "g.10625034T>G" "" "{PMID:Guegan 2012:21752016}" "" "2304_2305delCGinsT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10644386T>G" "" "pathogenic (dominant)" "" "0000683159" "0" "90" "20" "10624422" "10624422" "subst" "0" "00006" "JAG1_000672" "g.10624422del" "" "{PMID:Guegan 2012:21752016}" "" "2345-2A>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10643774del" "" "pathogenic (dominant)" "" "0000683160" "0" "90" "20" "10623135" "10623135" "del" "0" "00006" "JAG1_000031" "g.10623135C>A" "" "{PMID:Guegan 2012:21752016}" "" "2458+4delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10642487C>A" "" "pathogenic (dominant)" "" "0000683161" "0" "90" "20" "10622217" "10622217" "subst" "0" "00006" "JAG1_000031" "g.10622217C>T" "" "{PMID:Guegan 2012:21752016}" "" "2572+1G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641569C>T" "" "pathogenic (dominant)" "" "0000683162" "0" "90" "20" "10621871" "10621871" "subst" "0" "00006" "JAG1_000666" "g.10621871A>G" "" "{PMID:Guegan 2012:21752016}" "" "C936Y" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641223A>G" "" "pathogenic (dominant)" "" "0000683163" "0" "90" "20" "10621789" "10621802" "subst" "0" "00006" "JAG1_000663" "g.10621789_10621802dup" "" "{PMID:Guegan 2012:21752016}" "" "C980R" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641141_10641154dup" "" "pathogenic (dominant)" "" "0000683164" "0" "90" "20" "10621778" "10621778" "dup" "0" "00006" "JAG1_000662" "g.10621778C>A" "" "{PMID:Guegan 2012:21752016}" "" "3007_3020dup14" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641130C>A" "" "pathogenic (dominant)" "" "0000683165" "0" "90" "20" "10621771" "10621772" "subst" "0" "00006" "JAG1_000662" "g.10621771_10621772del" "" "{PMID:Guegan 2012:21752016}" "" "E1011X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641123_10641124del" "" "pathogenic (dominant)" "" "0000683166" "0" "90" "20" "10621516" "10621516" "del" "0" "00006" "JAG1_000661" "g.10621516del" "" "{PMID:Guegan 2012:21752016}" "" "3037_3038delCA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10640868del" "" "pathogenic (dominant)" "" "0000683168" "0" "90" "20" "10653498" "10653498" "subst" "0" "00006" "JAG1_000759" "g.10653498T>A" "" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "" "" "De novo" "" "" "0" "" "" "g.10672850T>A" "" "pathogenic (dominant)" "ACMG" "0000683169" "0" "70" "20" "10653377" "10653377" "subst" "0" "00006" "JAG1_000758" "g.10653377A>G" "" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672729A>G" "" "likely pathogenic (dominant)" "ACMG" "0000683170" "21" "90" "20" "10644611" "10644611" "subst" "0" "00006" "JAG1_000093" "g.10644611G>A" "" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "" "" "Germline" "" "" "0" "" "" "g.10663963G>A" "" "pathogenic (dominant)" "ACMG" "0000683171" "0" "90" "20" "10639259" "10639259" "subst" "0" "00006" "JAG1_000087" "g.10639259C>T" "" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658611C>T" "" "pathogenic (dominant)" "ACMG" "0000683172" "0" "90" "20" "10633213" "10633217" "del" "0" "00006" "JAG1_000755" "g.10633213_10633217del" "" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "785_789delGTGAT" "" "De novo" "" "" "0" "" "" "g.10652565_10652569del" "" "pathogenic (dominant)" "ACMG" "0000683173" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "2122_2125delCAGT" "" "De novo" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "ACMG" "0000683174" "0" "90" "20" "10622257" "10622257" "dup" "0" "00006" "JAG1_000750" "g.10622257dup" "" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "2767_2768insG" "" "De novo" "" "" "0" "" "" "g.10641609dup" "" "pathogenic (dominant)" "ACMG" "0000683175" "0" "90" "20" "10621882" "10621882" "del" "0" "00006" "JAG1_000749" "g.10621882del" "" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "2927delC" "" "De novo" "" "" "0" "" "" "g.10641234del" "" "pathogenic (dominant)" "ACMG" "0000683176" "0" "90" "20" "10621799" "10621802" "del" "0" "00006" "JAG1_000747" "g.10621799_10621802del" "" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "3007_3010delGAGC" "" "De novo" "" "" "0" "" "" "g.10641151_10641154del" "" "pathogenic (dominant)" "ACMG" "0000683177" "0" "90" "20" "10619976" "10654275" "del" "0" "00006" "JAG1_000746" "g.(?_10619976)_(10654275_?)del" "" "{PMID:Togawa 2016:26858187}" "" "deletion 10619976-1065275" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000683178" "21" "90" "20" "10630256" "10630256" "subst" "0" "00006" "JAG1_000752" "g.10630256C>T" "" "{PMID:Togawa 2016:26858187}, {PMID:Ohashi 2017:28695677}" "" "" "" "Germline" "" "" "0" "" "" "g.10649608C>T" "" "pathogenic (dominant)" "ACMG" "0000683179" "0" "90" "20" "10653638" "10653638" "subst" "0" "00006" "JAG1_000138" "g.10653638C>A" "" "{PMID:Ohashi 2017:28695677}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672990C>A" "" "pathogenic (dominant)" "ACMG" "0000683180" "0" "90" "20" "10633174" "10633174" "dup" "0" "00006" "JAG1_000754" "g.10633174dup" "" "{PMID:Ohashi 2017:28695677}" "" "828_829insT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10652526dup" "" "pathogenic (dominant)" "ACMG" "0000683181" "0" "90" "20" "10632228" "10632343" "del" "0" "00006" "JAG1_000753" "g.(10631009_10632228)_(10632343_10632778)del" "" "{PMID:Ohashi 2017:28695677}" "" "single-exon deletion" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000683182" "0" "90" "20" "10630192" "10630192" "subst" "0" "00006" "JAG1_000340" "g.10630192C>T" "" "{PMID:Ohashi 2017:28695677}" "" "" "" "De novo" "" "" "0" "" "" "g.10649544C>T" "" "pathogenic (dominant)" "ACMG" "0000683183" "0" "90" "20" "10625814" "10625814" "subst" "0" "00006" "JAG1_000285" "g.10625814C>T" "" "{PMID:Ohashi 2017:28695677}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645166C>T" "" "pathogenic (dominant)" "ACMG" "0000683184" "0" "90" "20" "10622161" "10622161" "subst" "0" "00006" "JAG1_000237" "g.10622161G>A" "" "{PMID:Ohashi 2017:28695677}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10641513G>A" "" "pathogenic (dominant)" "ACMG" "0000683185" "21" "90" "20" "10622106" "10622106" "subst" "0" "00006" "JAG1_000018" "g.10622106A>G" "" "{PMID:Ohashi 2017:28695677}" "" "" "" "Germline" "" "" "0" "" "" "g.10641458A>G" "" "pathogenic (dominant)" "ACMG" "0000683186" "0" "90" "20" "10653511" "10653511" "subst" "0" "00006" "JAG1_000760" "g.10653511G>C" "" "{PMID:Ohashi 2017:28695677}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672863G>C" "" "pathogenic (dominant)" "ACMG" "0000683187" "0" "90" "20" "10601004" "13194264" "del" "0" "00006" "JAG1_000000" "g.(?_10601004)_(13194264_?)del" "" "{PMID:Ohashi 2017:28695677}" "" "gross deletion 10601004-13194264" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000683188" "0" "90" "20" "9085395" "11982624" "del" "0" "00006" "JAG1_000000" "g.(?_9085395)_(11982624_?)del" "" "{PMID:Ohashi 2017:28695677}" "" "gross deletion 9085395-11982624" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000683189" "0" "90" "20" "8821878" "17500428" "del" "0" "00006" "JAG1_000000" "g.(?_8821878)_(17500428_?)del" "" "{PMID:Ohashi 2017:28695677}" "" "gross deletion 8821878-17500428" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000683190" "0" "90" "20" "10644610" "10644663" "del" "0" "00006" "JAG1_000613" "g.(10639371_10644610)_(10644663_10653348)del" "" "{PMID:Ohashi 2017:28695677}" "" "single-exon deletion" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000683191" "0" "90" "20" "10625813" "10625813" "subst" "0" "00006" "JAG1_000751" "g.10625813C>T" "" "{PMID:Ohashi 2017:28695677}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645165C>T" "" "pathogenic (dominant)" "ACMG" "0000683192" "21" "90" "20" "10621855" "10621855" "dup" "0" "00006" "JAG1_000748" "g.10621855dup" "" "{PMID:Ohashi 2017:28695677}" "" "2954_2955insA" "" "Germline" "" "" "0" "" "" "g.10641207dup" "" "pathogenic (dominant)" "ACMG" "0000683193" "0" "90" "20" "10644610" "10644610" "subst" "0" "00006" "JAG1_000092" "g.10644610C>T" "" "{PMID:Ohashi 2017:28695677}" "" "" "" "De novo" "" "" "0" "" "" "g.10663962C>T" "" "pathogenic (dominant)" "ACMG" "0000683194" "0" "90" "20" "10639327" "10639327" "del" "0" "00006" "JAG1_000757" "g.10639327del" "" "{PMID:Ohashi 2017:28695677}" "" "483delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658679del" "" "pathogenic (dominant)" "ACMG" "0000683195" "0" "90" "20" "10639155" "10639155" "del" "0" "00006" "JAG1_000756" "g.10639155del" "" "{PMID:Ohashi 2017:28695677}" "" "655delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10658507del" "" "pathogenic (dominant)" "ACMG" "0000683422" "0" "90" "20" "10653466" "10653466" "dup" "0" "00006" "JAG1_000120" "g.10653466dup" "" "{PMID:Crosnier 2000:11139247}" "" "270-271insG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10672818dup" "" "pathogenic (dominant)" "" "0000683423" "21" "90" "20" "10644610" "10644610" "subst" "0" "00006" "JAG1_000092" "g.10644610C>T" "" "{PMID:Crosnier 2000:11139247}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10663962C>T" "" "pathogenic (dominant)" "" "0000683424" "0" "90" "20" "10637098" "10637098" "subst" "0" "00006" "JAG1_000081" "g.10637098G>A" "" "{PMID:Crosnier 2000:11139247}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10656450G>A" "" "pathogenic (dominant)" "" "0000683425" "21" "90" "20" "10633138" "10633138" "subst" "0" "00006" "JAG1_000372" "g.10633138C>G" "" "{PMID:Crosnier 2000:11139247}" "" "" "" "Germline" "" "" "0" "" "" "g.10652490C>G" "" "pathogenic (dominant)" "" "0000683426" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Crosnier 2000:11139247}" "" "2122-2125delCAGT" "" "De novo" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000683427" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Crosnier 2000:11139247}" "" "2122-2125delCAGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000683428" "0" "90" "20" "10621463" "10621466" "del" "0" "00006" "JAG1_000203" "g.10621463_10621466del" "" "{PMID:Crosnier 2000:11139247}" "" "3164-3167delTAAG" "" "De novo" "" "" "0" "" "" "g.10640815_10640818del" "" "pathogenic (dominant)" "" "0000683429" "11" "90" "20" "9298889" "11610454" "del" "0" "00006" "JAG1_000000" "g.(?_9298889)_(11610454_?)del" "" "{PMID:Kamath 2009:19058200}" "" "2.31 Mb deletion (9246889-11558454 NCBI35)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683430" "0" "90" "20" "7370428" "21985498" "del" "0" "00006" "JAG1_000000" "g.(?_7370428)_(21985498_?)del" "" "{PMID:Kamath 2009:19058200}" "" "12.96 Mb deletion (7318428-21933498 NCBI35)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683433" "0" "90" "20" "10644609" "10644613" "del" "0" "00006" "JAG1_000743" "g.10644609_10644613del" "" "{PMID:Lin 2012:22488849}" "" "337_338+3delTTCGT" "" "De novo" "" "" "0" "" "" "g.10663961_10663965del" "" "pathogenic (dominant)" "" "0000683434" "0" "90" "20" "10630973" "10630973" "subst" "0" "00006" "JAG1_000067" "g.10630973C>T" "" "{PMID:Lin 2012:22488849}" "" "" "" "De novo" "" "" "0" "" "" "g.10650325C>T" "" "pathogenic (dominant)" "" "0000683435" "0" "90" "20" "10625893" "10625896" "del" "0" "00006" "JAG1_000045" "g.10625893_10625896del" "" "{PMID:Lin 2012:22488849}" "" "2122_2125delCAGT" "" "De novo" "" "" "0" "" "" "g.10645245_10645248del" "" "pathogenic (dominant)" "" "0000683436" "0" "90" "20" "10623135" "10623135" "subst" "0" "00006" "JAG1_000031" "g.10623135C>A" "" "{PMID:Lin 2012:22488849}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10642487C>A" "" "pathogenic (dominant)" "" "0000683479" "0" "50" "20" "0" "0" "" "0" "00006" "JAG1_000493" "g.[NC_000001.10:g.pter_(92000001_94700000)delinspter_(17900001_25600000)" "" "{PMID:Warthen 2006:16575836}" "" "t(1;20)(p.22.1;p11.2)" "" "DUPLICATE record" "" "" "0" "" "t(1;20)(p.22.1;p11.2)" "g.[NC_000001.11:g.pter_(91500001_94300000)]delinspter_(17900001_25700000)" "" "VUS" "" "0000683483" "0" "50" "20" "0" "0" "" "0" "00006" "JAG1_000492" "g.[NC_000002.11:g.(135100001_136800000)_qter]delinspter_(5100001_17900000)inv" "" "{PMID:Spinner 1994:8037203}, {PMID:Kamath 2009:19058200}" "" "t(2;20)(q21.3;p12)" "" "DUPLICATE record" "" "" "0" "" "46,XX, t(2;20)(q21.3;p12)" "g.[NC_000002.12:g.(134300001_136100000)_qter]delinspter_(5100001_17900000)inv" "" "VUS" "" "0000684812" "0" "30" "20" "10653603" "10653603" "subst" "0.000632364" "00004" "JAG1_000437" "g.10653603C>A" "frequency 0.017" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.10672955C>A" "" "likely benign" "" "0000686503" "0" "70" "20" "10639223" "10639223" "subst" "0" "02373" "JAG1_000761" "g.10639223C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.10658575C>T" "" "pathogenic (dominant)" "" "0000692933" "0" "50" "20" "10620165" "10620165" "subst" "5.2794E-5" "01943" "JAG1_000193" "g.10620165C>T" "" "" "" "JAG1(NM_000214.2):c.3638G>A (p.(Arg1213Gln)), JAG1(NM_000214.3):c.3638G>A (p.R1213Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692934" "0" "30" "20" "10620233" "10620233" "subst" "6.49878E-5" "01943" "JAG1_000762" "g.10620233C>T" "" "" "" "JAG1(NM_000214.3):c.3570G>A (p.P1190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692935" "0" "30" "20" "10620233" "10620233" "subst" "6.49878E-5" "02326" "JAG1_000762" "g.10620233C>T" "" "" "" "JAG1(NM_000214.3):c.3570G>A (p.P1190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692936" "0" "50" "20" "10623181" "10623181" "subst" "4.06161E-5" "02325" "JAG1_000763" "g.10623181G>A" "" "" "" "JAG1(NM_000214.3):c.2527C>T (p.R843W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000695601" "0" "70" "20" "10639276" "10639276" "del" "0" "02551" "JAG1_000764" "g.10639276del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000713967" "1" "70" "20" "10626093" "10626093" "subst" "0" "00000" "JAG1_000765" "g.10626093G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.10645445G>A" "" "likely pathogenic (dominant)" "" "0000713968" "1" "70" "20" "10653465" "10653465" "subst" "0" "00000" "JAG1_000766" "g.10653465G>T" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.10672817G>T" "" "likely pathogenic (dominant)" "" "0000727598" "0" "30" "20" "10625526" "10625526" "subst" "0.000385812" "02330" "JAG1_000768" "g.10625526G>A" "" "" "" "JAG1(NM_000214.3):c.2329C>T (p.P777S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727599" "0" "30" "20" "10629715" "10629715" "subst" "0.000479242" "02326" "JAG1_000638" "g.10629715G>A" "" "" "" "JAG1(NM_000214.3):c.1389C>T (p.S463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727600" "0" "30" "20" "10629721" "10629721" "subst" "1.62455E-5" "02326" "JAG1_000769" "g.10629721G>A" "" "" "" "JAG1(NM_000214.3):c.1383C>T (p.D461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727601" "0" "30" "20" "10632234" "10632234" "subst" "9.3585E-5" "02325" "JAG1_000069" "g.10632234G>A" "" "" "" "JAG1(NM_000214.2):c.1115C>T (p.(Ser372Phe)), JAG1(NM_000214.3):c.1115C>T (p.S372F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727602" "0" "30" "20" "10633183" "10633183" "subst" "3.24968E-5" "01943" "JAG1_000770" "g.10633183G>A" "" "" "" "JAG1(NM_000214.3):c.819C>T (p.H273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727603" "0" "50" "20" "10639199" "10639199" "subst" "0" "02329" "JAG1_000771" "g.10639199T>C" "" "" "" "JAG1(NM_000214.3):c.611A>G (p.D204G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729342" "0" "90" "20" "10653161" "10653348" "del" "0" "00006" "JAG1_000767" "g.10653161_10653348del" "" "{PMID:Boyer 2005:15772854}" "" "387+1del118" "description variant at DNA level not clear" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000729345" "21" "70" "20" "10624999" "10625002" "del" "0" "00006" "JAG1_000276" "g.10624999_10625002del" "" "" "" "2372+3_2372+6delAAGT" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000730689" "1" "90" "20" "10621466" "10621469" "del" "0" "00000" "JAG1_000203" "g.10621466_10621469del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.10640818_10640821del" "" "pathogenic (dominant)" "" "0000765479" "1" "70" "20" "10629324" "10629324" "subst" "8.12275E-6" "00000" "JAG1_000774" "g.10629324C>T" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.10648676C>T" "" "likely pathogenic" "" "0000765497" "1" "90" "20" "10627643" "10627643" "subst" "8.12117E-6" "00000" "JAG1_000773" "g.10627643C>T" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.10646995C>T" "" "pathogenic" "" "0000765891" "3" "90" "20" "10629286" "10629286" "dup" "0" "00000" "JAG1_000772" "g.10629286dup" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.10648638dup" "" "pathogenic (recessive)" "" "0000788159" "0" "50" "20" "10629255" "10629255" "subst" "3.6553E-5" "00000" "JAG1_000334" "g.10629255T>C" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.10648607T>C" "" "VUS" "" "0000788440" "0" "50" "20" "10621771" "10621771" "subst" "0.000113775" "00000" "JAG1_000775" "g.10621771T>A" "" "{PMID:Katagiri 2014:25268133}" "" "A3038T" "" "Germline" "" "" "0" "" "" "g.10641123T>A" "" "VUS" "" "0000793767" "0" "70" "20" "10626093" "10626093" "subst" "0" "00000" "JAG1_000765" "g.10626093G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.2024C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793768" "0" "70" "20" "10653465" "10653465" "subst" "0" "00000" "JAG1_000766" "g.10653465G>T" "" "{PMID:Zhou-2011:21677794}" "" "c.271C>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000795117" "0" "50" "20" "10630906" "10630906" "subst" "1.62726E-5" "01164" "JAG1_000776" "g.10630906G>A" "" "" "" "" "ACMG: PS4_SUP, PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "VCV000955136.2" "VUS" "ACMG" "0000796917" "0" "90" "20" "10629310" "10629311" "ins" "0" "00000" "JAG1_000004" "g.10629310_10629311insCA" "" "{PMID:Wang-2014:24154662}" "" "c.1455_1456insTG" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000809158" "0" "50" "20" "10622196" "10622196" "subst" "4.46875E-5" "01943" "JAG1_000777" "g.10622196G>A" "" "" "" "JAG1(NM_000214.3):c.2828C>T (p.P943L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809159" "0" "10" "20" "10626044" "10626044" "subst" "0.000430936" "02330" "JAG1_000620" "g.10626044A>G" "" "" "" "JAG1(NM_000214.3):c.2073T>C (p.C691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809160" "0" "50" "20" "10627701" "10627701" "subst" "0" "01943" "JAG1_000778" "g.10627701C>T" "" "" "" "JAG1(NM_000214.3):c.1771G>A (p.V591M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809161" "0" "30" "20" "10627717" "10627717" "subst" "0.000369606" "02330" "JAG1_000053" "g.10627717G>A" "" "" "" "JAG1(NM_000214.3):c.1755C>T (p.N585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809162" "0" "30" "20" "10632902" "10632902" "subst" "0" "02325" "JAG1_000779" "g.10632902C>T" "" "" "" "JAG1(NM_000214.3):c.887-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809163" "0" "10" "20" "10633097" "10633097" "subst" "0.00214559" "02326" "JAG1_000074" "g.10633097T>A" "" "" "" "JAG1(NM_000214.3):c.886+19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809164" "0" "30" "20" "10639285" "10639285" "subst" "1.21872E-5" "01943" "JAG1_000780" "g.10639285G>A" "" "" "" "JAG1(NM_000214.3):c.525C>T (p.G175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809165" "0" "10" "20" "10644636" "10644636" "subst" "0.000300486" "02330" "JAG1_000483" "g.10644636C>T" "" "" "" "JAG1(NM_000214.3):c.414G>A (p.A138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809166" "0" "30" "20" "10653442" "10653442" "subst" "4.89002E-5" "01943" "JAG1_000781" "g.10653442G>C" "" "" "" "JAG1(NM_000214.3):c.294C>G (p.S98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000816096" "0" "70" "20" "10621180" "10654961" "dup" "0" "00000" "JAG1_000782" "g.10621180_10654961dup" "" "{PMID:Zampaglione 2020:32037395}" "" "JAG1 chr20:10621180_10654961dup" "Duplication of exons 1-25 (3199 coding bases, out of frame), range 3197-73571 bp in various techniques, heterozygous" "Unknown" "?" "" "0" "" "" "g.10640532_10674313dup" "" "likely pathogenic" "" "0000822705" "0" "70" "20" "10621466" "10621469" "del" "0" "00000" "JAG1_000203" "g.10621466_10621469del" "" "{PMID:Gliem 2020:32646556}" "" "JAG1 c.3164_3167del, p.Val1055Glufs*7" "heterozygous" "Unknown" "?" "" "0" "" "" "g.10640818_10640821del" "" "likely pathogenic" "" "0000826991" "0" "90" "20" "9200001" "17900000" "del" "0" "00000" "JAG1_000783" "g.9200001_17900000del" "" "{PMID:Thorsteinsson 2021:33851411}" "" "JAG1 del20p12.1-p12.2," "heterozygous" "Unknown" "?" "" "0" "" "" "g.9200001_17900000del" "" "pathogenic" "" "0000842275" "0" "90" "20" "10625897" "10625900" "del" "0" "03779" "JAG1_000045" "g.10625897_10625900del" "" "" "" "" "" "CLASSIFICATION record" "" "rs727504412" "0" "" "" "" "" "pathogenic" "" "0000855754" "0" "30" "20" "10620336" "10620336" "subst" "6.90344E-5" "02325" "JAG1_000454" "g.10620336A>G" "" "" "" "JAG1(NM_000214.3):c.3467T>C (p.V1156A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855755" "0" "10" "20" "10621875" "10621875" "subst" "6.50407E-5" "02330" "JAG1_000784" "g.10621875G>A" "" "" "" "JAG1(NM_000214.3):c.2934C>T (p.H978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855756" "0" "30" "20" "10622246" "10622246" "subst" "0.000707202" "02326" "JAG1_000021" "g.10622246G>A" "" "" "" "JAG1(NM_000214.3):c.2778C>T (p.F926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855757" "0" "50" "20" "10625788" "10625789" "ins" "0" "02326" "JAG1_000785" "g.10625788_10625789insGTTACATAAAGTTGTAACATAA" "" "" "" "JAG1(NM_000214.3):c.2227+3_2227+4insTATGTTACAACTTTATGTAACT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855758" "0" "30" "20" "10628720" "10628720" "subst" "7.7168E-5" "02326" "JAG1_000055" "g.10628720G>A" "" "" "" "JAG1(NM_000214.3):c.1608C>T (p.N536=, p.(Asn536=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855759" "0" "50" "20" "10639199" "10639199" "subst" "0" "02325" "JAG1_000771" "g.10639199T>C" "" "" "" "JAG1(NM_000214.3):c.611A>G (p.D204G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855760" "0" "50" "20" "10639199" "10639199" "subst" "0" "02326" "JAG1_000771" "g.10639199T>C" "" "" "" "JAG1(NM_000214.3):c.611A>G (p.D204G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866380" "0" "30" "20" "10626068" "10626068" "subst" "1.21966E-5" "02326" "JAG1_000464" "g.10626068G>A" "" "" "" "JAG1(NM_000214.3):c.2049C>T (p.R683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866381" "0" "30" "20" "10629327" "10629327" "subst" "0.00136871" "02326" "JAG1_000063" "g.10629327G>A" "" "" "" "JAG1(NM_000214.3):c.1439C>T (p.A480V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866382" "0" "30" "20" "10629721" "10629721" "subst" "1.62455E-5" "02330" "JAG1_000769" "g.10629721G>A" "" "" "" "JAG1(NM_000214.3):c.1383C>T (p.D461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000871666" "21" "70" "20" "10620258" "10620262" "" "0" "04348" "JAG1_000786" "g.10620258_10620262del" "" "" "" "3548_3552delAGAAG" "" "Germline" "" "" "0" "" "" "g.10639610_10639614del" "" "VUS" "ACMG" "0000895211" "0" "30" "20" "10621565" "10621565" "subst" "2.8428E-5" "02325" "JAG1_000787" "g.10621565C>T" "" "" "" "JAG1(NM_000214.3):c.3065G>A (p.R1022Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895212" "0" "10" "20" "10622509" "10622509" "subst" "7.31333E-5" "02330" "JAG1_000788" "g.10622509A>G" "" "" "" "JAG1(NM_000214.3):c.2604T>C (p.S868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895213" "0" "30" "20" "10622517" "10622517" "subst" "0.000174712" "02326" "JAG1_000789" "g.10622517T>C" "" "" "" "JAG1(NM_000214.3):c.2596A>G (p.M866V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895214" "0" "30" "20" "10622556" "10622556" "subst" "0.00150165" "02326" "JAG1_000030" "g.10622556G>A" "" "" "" "JAG1(NM_000214.3):c.2573-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895215" "0" "50" "20" "10623210" "10623210" "subst" "2.43718E-5" "02325" "JAG1_000790" "g.10623210G>A" "" "" "" "JAG1(NM_000214.3):c.2498C>T (p.A833V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895216" "0" "50" "20" "10624471" "10624471" "subst" "1.21863E-5" "02327" "JAG1_000791" "g.10624471G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895217" "0" "50" "20" "10625624" "10625624" "subst" "0.000921812" "02330" "JAG1_000458" "g.10625624C>T" "" "" "" "JAG1(NM_000214.3):c.2231G>A (p.R744Q, p.(Arg744Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895218" "0" "30" "20" "10625624" "10625624" "subst" "0.000921812" "02326" "JAG1_000458" "g.10625624C>T" "" "" "" "JAG1(NM_000214.3):c.2231G>A (p.R744Q, p.(Arg744Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895219" "0" "70" "20" "10625832" "10625832" "subst" "0" "02326" "JAG1_000792" "g.10625832C>T" "" "" "" "JAG1(NM_000214.3):c.2186G>A (p.C729Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895220" "0" "30" "20" "10629766" "10629766" "subst" "0.00153138" "02330" "JAG1_000793" "g.10629766A>C" "" "" "" "JAG1(NM_000214.3):c.1349-11T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895221" "0" "30" "20" "10630198" "10630198" "subst" "2.03079E-5" "02326" "JAG1_000472" "g.10630198G>A" "" "" "" "JAG1(NM_000214.3):c.1320C>T (p.P440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895222" "0" "30" "20" "10632219" "10632219" "subst" "0.000265144" "02326" "JAG1_000794" "g.10632219T>C" "" "" "" "JAG1(NM_000214.3):c.1120+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895223" "0" "50" "20" "10637076" "10637076" "subst" "0" "02327" "JAG1_000795" "g.10637076T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895224" "0" "90" "20" "10637098" "10637098" "subst" "0" "02327" "JAG1_000081" "g.10637098G>A" "" "" "" "JAG1(NM_000214.3):c.703C>T (p.R235*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895225" "0" "70" "20" "10639138" "10639138" "subst" "0" "02325" "JAG1_000796" "g.10639138C>G" "" "" "" "JAG1(NM_000214.3):c.672G>C (p.W224C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895226" "0" "10" "20" "10644602" "10644602" "subst" "4.46708E-5" "02330" "JAG1_000797" "g.10644602G>A" "" "" "" "JAG1(NM_000214.3):c.439+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895227" "0" "50" "20" "10653404" "10653409" "dup" "0" "01804" "JAG1_000798" "g.10653404_10653409dup" "" "" "" "JAG1(NM_000214.2):c.329_334dupAGGCCA (p.(Lys110_Ala111dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895228" "0" "10" "20" "10653442" "10653442" "subst" "0.00331706" "02326" "JAG1_000099" "g.10653442G>A" "" "" "" "JAG1(NM_000214.3):c.294C>T (p.S98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895229" "0" "30" "20" "10653603" "10653603" "subst" "0.000632364" "02330" "JAG1_000437" "g.10653603C>A" "" "" "" "JAG1(NM_000214.3):c.133G>T (p.V45L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915339" "0" "10" "20" "10620248" "10620248" "subst" "0.000259905" "02330" "JAG1_000799" "g.10620248G>A" "" "" "" "JAG1(NM_000214.3):c.3555C>T (p.P1185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915340" "0" "50" "20" "10620372" "10620372" "subst" "0" "02329" "JAG1_000800" "g.10620372G>A" "" "" "" "JAG1(NM_000214.3):c.3431C>T (p.S1144F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915341" "0" "50" "20" "10620516" "10620516" "subst" "0" "02330" "JAG1_000010" "g.10620516C>T" "" "" "" "JAG1(NM_000214.2):c.3287G>A (p.(Arg1096Gln)), JAG1(NM_000214.3):c.3287G>A (p.R1096Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915342" "0" "30" "20" "10644601" "10644601" "subst" "0.000328934" "02326" "JAG1_000801" "g.10644601C>T" "" "" "" "JAG1(NM_000214.3):c.439+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922201" "0" "50" "20" "10653596" "10653596" "subst" "4.07525E-6" "03779" "JAG1_000802" "g.10653596C>G" "" "" "" "" "" "Unknown" "" "rs1485034173" "0" "" "" "" "" "VUS" "" "0000926966" "0" "50" "20" "10622140" "10622140" "subst" "8.53E-5" "02330" "JAG1_000488" "g.10622140T>C" "" "" "" "JAG1(NM_000214.3):c.2884A>G (p.T962A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926967" "0" "30" "20" "10626698" "10626698" "subst" "0.000393893" "02326" "JAG1_000466" "g.10626698G>A" "" "" "" "JAG1(NM_000214.3):c.1920C>T (p.N640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926968" "0" "90" "20" "10630214" "10630214" "dup" "0" "02325" "JAG1_000803" "g.10630214dup" "" "" "" "JAG1(NM_000214.3):c.1304dupA (p.Y435*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926969" "0" "10" "20" "10633097" "10633097" "subst" "0.00214559" "02329" "JAG1_000074" "g.10633097T>A" "" "" "" "JAG1(NM_000214.3):c.886+19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926970" "0" "10" "20" "10633237" "10633237" "subst" "0.456237" "02329" "JAG1_000078" "g.10633237G>A" "" "" "" "JAG1(NM_000214.3):c.765C>T (p.Y255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926971" "0" "10" "20" "10639222" "10639222" "subst" "0.10558" "02329" "JAG1_000085" "g.10639222G>A" "" "" "" "JAG1(NM_000214.3):c.588C>T (p.C196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926972" "0" "90" "20" "10639274" "10639274" "subst" "0" "02327" "JAG1_000722" "g.10639274A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931137" "0" "90" "20" "10621791" "10621800" "dup" "0" "02329" "JAG1_000804" "g.10621791_10621800dup" "" "" "" "JAG1(NM_000214.3):c.3009_3018dupGCCTTCCCCT (p.S1007Afs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931138" "0" "50" "20" "10621882" "10621882" "subst" "0" "02325" "JAG1_000014" "g.10621882G>C" "" "" "" "JAG1(NM_000214.2):c.2927C>G (p.(Thr976Arg)), JAG1(NM_000214.3):c.2927C>G (p.T976R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931139" "0" "10" "20" "10623266" "10623266" "subst" "0.00684184" "02329" "JAG1_000032" "g.10623266T>G" "" "" "" "JAG1(NM_000214.3):c.2459-17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931140" "0" "30" "20" "10625365" "10625365" "subst" "0" "02329" "JAG1_000805" "g.10625365G>T" "" "" "" "JAG1(NM_000214.3):c.2344+146C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931141" "0" "30" "20" "10625624" "10625624" "subst" "0.000921812" "02329" "JAG1_000458" "g.10625624C>T" "" "" "" "JAG1(NM_000214.3):c.2231G>A (p.R744Q, p.(Arg744Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931142" "0" "30" "20" "10629386" "10629386" "subst" "4.06332E-6" "02330" "JAG1_000806" "g.10629386G>A" "" "" "" "JAG1(NM_000214.3):c.1396-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931143" "0" "30" "20" "10630983" "10630983" "subst" "0.000118018" "02326" "JAG1_000807" "g.10630983G>A" "" "" "" "JAG1(NM_000214.3):c.1146C>T (p.N382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931144" "0" "10" "20" "10632876" "10632876" "subst" "0.00105232" "02329" "JAG1_000072" "g.10632876A>G" "" "" "" "JAG1(NM_000214.3):c.909T>C (p.H303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931145" "0" "30" "20" "10644602" "10644602" "subst" "4.46708E-5" "02326" "JAG1_000797" "g.10644602G>A" "" "" "" "JAG1(NM_000214.3):c.439+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931146" "0" "90" "20" "10644610" "10644610" "subst" "0" "02327" "JAG1_000092" "g.10644610C>T" "" "" "" "JAG1(NM_000214.2):c.439+1G>A (p.?), JAG1(NM_000214.3):c.439+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931638" "11" "30" "20" "10625624" "10625624" "subst" "0.000921812" "00006" "JAG1_000458" "g.10625624C>T" "" "{PMID:Sajan 2019:30478137}" "" "c.2231G>A (R744Q)" "" "Germline" "" "" "0" "" "" "g.10644976C>T" "" "likely benign" "" "0000931661" "0" "90" "20" "10622326" "10622326" "subst" "0" "03779" "JAG1_000024" "g.10622326G>A" "" "" "" "" "" "Unknown" "" "rs1555827789" "0" "" "" "" "" "pathogenic" "" "0000951391" "0" "30" "20" "10620233" "10620233" "subst" "6.49878E-5" "02329" "JAG1_000762" "g.10620233C>T" "" "" "" "JAG1(NM_000214.3):c.3570G>A (p.P1190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951392" "0" "50" "20" "10622187" "10622187" "subst" "0" "02329" "JAG1_000808" "g.10622187G>T" "" "" "" "JAG1(NM_000214.3):c.2837C>A (p.T946K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951393" "0" "30" "20" "10622246" "10622246" "subst" "0.000707202" "02329" "JAG1_000021" "g.10622246G>A" "" "" "" "JAG1(NM_000214.3):c.2778C>T (p.F926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951394" "0" "10" "20" "10622258" "10622258" "subst" "0.00413106" "02329" "JAG1_000022" "g.10622258G>A" "" "" "" "JAG1(NM_000214.3):c.2766C>T (p.D922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951395" "0" "30" "20" "10623149" "10623149" "subst" "0.00160094" "02326" "JAG1_000809" "g.10623149G>A" "" "" "" "JAG1(NM_000214.3):c.2559C>T (p.A853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951396" "0" "10" "20" "10624386" "10624386" "subst" "0.000746931" "02329" "JAG1_000810" "g.10624386G>A" "" "" "" "JAG1(NM_000214.3):c.2458+40C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951397" "0" "50" "20" "10625543" "10625543" "subst" "2.03042E-5" "02329" "JAG1_000811" "g.10625543T>C" "" "" "" "JAG1(NM_000214.2):c.2312A>G (p.(Lys771Arg)), JAG1(NM_000214.3):c.2312A>G (p.K771R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951398" "0" "30" "20" "10625554" "10625554" "subst" "0.000332984" "02329" "JAG1_000619" "g.10625554C>T" "" "" "" "JAG1(NM_000214.3):c.2301G>A (p.T767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951399" "0" "10" "20" "10625774" "10625774" "subst" "0.00179913" "02326" "JAG1_000042" "g.10625774G>A" "" "" "" "JAG1(NM_000214.3):c.2227+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951400" "0" "30" "20" "10626169" "10626169" "subst" "0" "02329" "JAG1_000812" "g.10626169C>T" "" "" "" "JAG1(NM_000214.3):c.2000-52G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951401" "0" "90" "20" "10630937" "10630938" "dup" "0" "02326" "JAG1_000813" "g.10630937_10630938dup" "" "" "" "JAG1(NM_000214.3):c.1198_1199dupTG (p.P401Afs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951402" "0" "30" "20" "10632162" "10632162" "subst" "0" "02329" "JAG1_000814" "g.10632162C>T" "" "" "" "JAG1(NM_000214.3):c.1120+67G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951403" "0" "50" "20" "10632791" "10632791" "subst" "1.21847E-5" "02329" "JAG1_000070" "g.10632791T>C" "" "" "" "JAG1(NM_000214.3):c.994A>G (p.N332D, p.(Asn332Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951404" "0" "90" "20" "10632813" "10632813" "subst" "0" "02327" "JAG1_000815" "g.10632813G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951405" "0" "30" "20" "10639383" "10639383" "subst" "0" "02329" "JAG1_000816" "g.10639383T>C" "" "" "" "JAG1(NM_000214.3):c.440-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951406" "0" "30" "20" "10639568" "10639568" "subst" "0" "02329" "JAG1_000817" "g.10639568G>C" "" "" "" "JAG1(NM_000214.3):c.440-198C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951407" "0" "30" "20" "10644636" "10644636" "subst" "0.000300486" "02329" "JAG1_000483" "g.10644636C>T" "" "" "" "JAG1(NM_000214.3):c.414G>A (p.A138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951408" "0" "10" "20" "10653442" "10653442" "subst" "0.00331706" "02329" "JAG1_000099" "g.10653442G>A" "" "" "" "JAG1(NM_000214.3):c.294C>T (p.S98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951409" "0" "10" "20" "10653466" "10653466" "subst" "0.00609995" "02329" "JAG1_000100" "g.10653466C>A" "" "" "" "JAG1(NM_000214.3):c.270G>T (p.G90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000953836" "0" "70" "20" "10653504" "10653504" "subst" "0" "03779" "JAG1_000123" "g.10653504A>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000954799" "21" "90" "20" "10629255" "10629255" "subst" "3.6553E-5" "00006" "JAG1_000334" "g.10629255T>C" "" "{PMID:Fan 2020:32883240}" "" "" "" "Germline" "" "" "0" "" "" "g.10648607T>C" "" "pathogenic (dominant)" "" "0000957399" "0" "70" "20" "10629255" "10629255" "subst" "3.6553E-5" "00006" "JAG1_000334" "g.10629255T>C" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "" "rs527236046" "0" "" "" "g.10648607T>C" "rs527236046" "likely pathogenic (dominant)" "" "0000957512" "0" "90" "20" "10629255" "10629255" "subst" "3.6553E-5" "00006" "JAG1_000334" "g.10629255T>C" "" "{PMID:Liu 2023:37337769}" "" "" "incomplete penetrance" "Germline" "no" "rs527236046" "0" "" "" "g.10648607T>C" "rs527236046" "pathogenic (!)" "" "0000957513" "0" "90" "20" "10629255" "10629255" "subst" "3.6553E-5" "00006" "JAG1_000334" "g.10629255T>C" "" "{PMID:Liu 2023:37337769}" "" "" "incomplete penetrance" "Germline" "no" "rs527236046" "0" "" "" "g.10648607T>C" "rs527236046" "pathogenic (!)" "" "0000960296" "0" "70" "20" "10639124" "10639124" "subst" "0" "03779" "JAG1_000393" "g.10639124C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000970065" "0" "30" "20" "10620819" "10620819" "subst" "0" "02329" "JAG1_000818" "g.10620819C>T" "" "" "" "JAG1(NM_000214.3):c.3200-216G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970066" "0" "30" "20" "10621302" "10621302" "subst" "0" "02329" "JAG1_000819" "g.10621302C>G" "" "" "" "JAG1(NM_000214.3):c.3199+129G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970067" "0" "10" "20" "10622090" "10622090" "del" "0" "02329" "JAG1_000627" "g.10622090del" "" "" "" "JAG1(NM_000214.3):c.2916+27delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970068" "0" "30" "20" "10622447" "10622447" "subst" "5.68643E-5" "02326" "JAG1_000261" "g.10622447C>T" "" "" "" "JAG1(NM_000214.3):c.2666G>A (p.R889Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970069" "0" "30" "20" "10623149" "10623149" "subst" "0.00160094" "02330" "JAG1_000809" "g.10623149G>A" "" "" "" "JAG1(NM_000214.3):c.2559C>T (p.A853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970070" "0" "30" "20" "10630691" "10630691" "subst" "0" "02329" "JAG1_000820" "g.10630691C>T" "" "" "" "JAG1(NM_000214.3):c.1234+204G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970071" "0" "30" "20" "10632247" "10632247" "subst" "2.4399E-5" "02327" "JAG1_000475" "g.10632247C>T" "" "" "" "JAG1(NM_000214.3):c.1102G>A (p.G368S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970072" "0" "30" "20" "10632891" "10632891" "subst" "0.000483818" "02329" "JAG1_000073" "g.10632891A>G" "" "" "" "JAG1(NM_000214.3):c.894T>C (p.N298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970073" "0" "30" "20" "10633394" "10633394" "subst" "0" "02329" "JAG1_000821" "g.10633394G>A" "" "" "" "JAG1(NM_000214.3):c.756-148C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970074" "0" "30" "20" "10639019" "10639019" "subst" "0" "02329" "JAG1_000822" "g.10639019C>G" "" "" "" "JAG1(NM_000214.3):c.694+97G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970076" "0" "50" "20" "10653387" "10653387" "subst" "8.19659E-6" "02325" "JAG1_000097" "g.10653387G>C" "" "" "" "JAG1(NM_000214.2):c.349C>G (p.(Arg117Gly)), JAG1(NM_000214.3):c.349C>G (p.R117G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970077" "0" "30" "20" "10653603" "10653603" "subst" "0.000632364" "02326" "JAG1_000437" "g.10653603C>A" "" "" "" "JAG1(NM_000214.3):c.133G>T (p.V45L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971687" "21" "70" "20" "10653491" "10653491" "subst" "0" "04614" "JAG1_000823" "g.10653491T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.10672843T>C" "" "likely pathogenic (dominant)" "ACMG" "0000972062" "0" "50" "20" "10620538" "10620538" "subst" "0" "03779" "JAG1_000824" "g.10620538A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs537450546" "0" "" "" "" "" "VUS" "" "0000983724" "0" "50" "20" "10620411" "10620411" "subst" "4.06095E-6" "01804" "JAG1_000825" "g.10620411G>A" "" "" "" "JAG1(NM_000214.3):c.3392C>T (p.(Ala1131Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983725" "0" "30" "20" "10620474" "10620474" "subst" "0.000109644" "01804" "JAG1_000826" "g.10620474T>G" "" "" "" "JAG1(NM_000214.3):c.3329A>C (p.(Asn1110Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983726" "0" "50" "20" "10621792" "10621792" "subst" "2.84416E-5" "01804" "JAG1_000827" "g.10621792G>A" "" "" "" "JAG1(NM_000214.3):c.3017C>T (p.(Pro1006Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983727" "0" "30" "20" "10625249" "10625249" "subst" "0" "02329" "JAG1_000828" "g.10625249G>C" "" "" "" "JAG1(NM_000214.3):c.2345-217C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983728" "0" "30" "20" "10626068" "10626068" "subst" "1.21966E-5" "02330" "JAG1_000464" "g.10626068G>A" "" "" "" "JAG1(NM_000214.3):c.2049C>T (p.R683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983729" "0" "30" "20" "10626157" "10626157" "subst" "0" "02329" "JAG1_000829" "g.10626157C>T" "" "" "" "JAG1(NM_000214.3):c.2000-40G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983730" "0" "30" "20" "10629715" "10629715" "subst" "0.000479242" "02329" "JAG1_000638" "g.10629715G>A" "" "" "" "JAG1(NM_000214.3):c.1389C>T (p.S463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983731" "0" "30" "20" "10630174" "10630174" "subst" "4.87587E-5" "02329" "JAG1_000830" "g.10630174G>A" "" "" "" "JAG1(NM_000214.3):c.1344C>T (p.D448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983732" "0" "30" "20" "10631199" "10631199" "subst" "0" "02329" "JAG1_000831" "g.10631199C>T" "" "" "" "JAG1(NM_000214.3):c.1121-191G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983733" "0" "50" "20" "10632791" "10632791" "subst" "1.21847E-5" "01804" "JAG1_000070" "g.10632791T>C" "" "" "" "JAG1(NM_000214.3):c.994A>G (p.N332D, p.(Asn332Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983734" "0" "30" "20" "10639324" "10639324" "subst" "0" "02329" "JAG1_000089" "g.10639324G>A" "" "" "" "JAG1(NM_000214.3):c.486C>T (p.N162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983735" "0" "30" "20" "10653631" "10653631" "subst" "3.71796E-5" "02326" "JAG1_000636" "g.10653631G>A" "" "" "" "JAG1(NM_000214.3):c.105C>T (p.F35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983736" "0" "30" "20" "10653914" "10653914" "subst" "0" "02329" "JAG1_000832" "g.10653914C>G" "" "" "" "JAG1(NM_000214.3):c.81+184G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984931" "0" "70" "20" "10639114" "10639115" "del" "0" "03779" "JAG1_000833" "g.10639114_10639115del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000987414" "0" "90" "20" "10633237" "10633237" "subst" "0" "03779" "JAG1_000191" "g.10633237G>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1131695" "0" "" "" "" "" "pathogenic" "" "0001005254" "0" "30" "20" "10620165" "10620165" "subst" "5.2794E-5" "01804" "JAG1_000193" "g.10620165C>T" "" "" "" "JAG1(NM_000214.2):c.3638G>A (p.(Arg1213Gln)), JAG1(NM_000214.3):c.3638G>A (p.R1213Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005255" "0" "50" "20" "10620234" "10620234" "subst" "8.12334E-6" "01804" "JAG1_000834" "g.10620234G>A" "" "" "" "JAG1(NM_000214.2):c.3569C>T (p.(Pro1190Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005256" "0" "50" "20" "10621838" "10621838" "subst" "0" "02329" "JAG1_000835" "g.10621838T>C" "" "" "" "JAG1(NM_000214.3):c.2971A>G (p.N991D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005257" "0" "30" "20" "10622187" "10622187" "subst" "0" "01804" "JAG1_000836" "g.10622187G>C" "" "" "" "JAG1(NM_000214.2):c.2837C>G (p.(Thr946Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005258" "0" "30" "20" "10622267" "10622267" "subst" "4.06653E-6" "02329" "JAG1_000837" "g.10622267G>A" "" "" "" "JAG1(NM_000214.3):c.2757C>T (p.P919=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005259" "0" "90" "20" "10622430" "10622430" "subst" "0" "02327" "JAG1_000838" "g.10622430C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001005260" "0" "50" "20" "10624455" "10624455" "subst" "4.0619E-6" "02330" "JAG1_000274" "g.10624455G>A" "" "" "" "JAG1(NM_000214.3):c.2429C>T (p.P810L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005261" "0" "50" "20" "10625543" "10625543" "subst" "2.03042E-5" "01804" "JAG1_000811" "g.10625543T>C" "" "" "" "JAG1(NM_000214.2):c.2312A>G (p.(Lys771Arg)), JAG1(NM_000214.3):c.2312A>G (p.K771R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005262" "0" "50" "20" "10625818" "10625818" "subst" "0" "02329" "JAG1_000839" "g.10625818C>G" "" "" "" "JAG1(NM_000214.3):c.2200G>C (p.G734R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005263" "0" "30" "20" "10626041" "10626041" "subst" "0" "01804" "JAG1_000463" "g.10626041G>T" "" "" "" "JAG1(NM_000214.2):c.2076C>A (p.(Asp692Glu)), JAG1(NM_000214.3):c.2076C>A (p.D692E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005264" "0" "70" "20" "10627629" "10627629" "subst" "0" "01804" "JAG1_000840" "g.10627629A>C" "" "" "" "JAG1(NM_000214.2):c.1843T>G (p.(Cys615Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005265" "0" "50" "20" "10628622" "10628622" "subst" "0" "01804" "JAG1_000841" "g.10628622G>C" "" "" "" "JAG1(NM_000214.2):c.1706C>G (p.(Thr569Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005266" "0" "70" "20" "10628689" "10628689" "dup" "0" "01804" "JAG1_000842" "g.10628689dup" "" "" "" "JAG1(NM_000214.2):c.1639dupT (p.(Tyr547fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005267" "0" "10" "20" "10628750" "10628750" "subst" "0.00129185" "02329" "JAG1_000057" "g.10628750G>A" "" "" "" "JAG1(NM_000214.3):c.1578C>T (p.I526=, p.(Ile526=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001005268" "0" "30" "20" "10637072" "10637072" "subst" "0" "02329" "JAG1_000843" "g.10637072C>T" "" "" "" "JAG1(NM_000214.3):c.729G>A (p.G243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005269" "0" "30" "20" "10639288" "10639288" "subst" "2.43732E-5" "02329" "JAG1_000844" "g.10639288C>T" "" "" "" "JAG1(NM_000214.3):c.522G>A (p.T174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005270" "0" "90" "20" "10644610" "10644610" "subst" "0" "01804" "JAG1_000092" "g.10644610C>T" "" "" "" "JAG1(NM_000214.2):c.439+1G>A (p.?), JAG1(NM_000214.3):c.439+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001005271" "0" "30" "20" "10644625" "10644625" "subst" "4.06058E-6" "01804" "JAG1_000845" "g.10644625C>T" "" "" "" "JAG1(NM_000214.2):c.425G>A (p.(Ser142Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005272" "0" "90" "20" "10653429" "10653429" "del" "0" "01804" "JAG1_000846" "g.10653429del" "" "" "" "JAG1(NM_000214.2):c.311delG (p.(Gly104fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001005273" "0" "30" "20" "10653560" "10653560" "subst" "0" "01804" "JAG1_000847" "g.10653560C>T" "" "" "" "JAG1(NM_000214.2):c.176G>A (p.(Arg59Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007480" "0" "70" "20" "10626012" "10626012" "subst" "0" "00006" "JAG1_000848" "g.10626012C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_000214.3:c.2105C>T" "" "Germline" "" "" "0" "" "" "g.10645364C>T" "" "VUS" "" "0001007481" "0" "70" "20" "10628671" "10628671" "subst" "4.06164E-6" "00006" "JAG1_000849" "g.10628671C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs759763539" "0" "" "" "g.10648023C>T" "" "VUS" "" "0001007482" "0" "70" "20" "10630197" "10630197" "subst" "8.12255E-6" "00006" "JAG1_000850" "g.10630197C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1327002160" "0" "" "" "g.10649549C>T" "" "VUS" "" "0001007483" "0" "70" "20" "10639289" "10639289" "subst" "1.62497E-5" "00006" "JAG1_000851" "g.10639289G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs144999773" "0" "" "" "g.10658641G>A" "" "VUS" "" "0001015849" "0" "30" "20" "10620507" "10620507" "subst" "0.00034568" "02329" "JAG1_000852" "g.10620507G>A" "" "" "" "JAG1(NM_000214.3):c.3296C>T (p.P1099L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015850" "0" "50" "20" "10625799" "10625799" "subst" "0" "02326" "JAG1_000853" "g.10625799C>A" "" "" "" "JAG1(NM_000214.3):c.2219G>T (p.C740F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015851" "0" "30" "20" "10627577" "10627577" "subst" "1.21819E-5" "02329" "JAG1_000854" "g.10627577G>T" "" "" "" "JAG1(NM_000214.3):c.1885+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015852" "0" "70" "20" "10633182" "10633182" "subst" "0" "02325" "JAG1_000855" "g.10633182C>A" "" "" "" "JAG1(NM_000214.3):c.820G>T (p.G274C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001016467" "0" "90" "20" "10629347" "10629347" "dup" "0" "03779" "JAG1_000582" "g.10629347dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001016835" "21" "90" "20" "10631002" "10631002" "subst" "0" "04773" "JAG1_000856" "g.10631002T>C" "" "" "" "" "" "Germline" "no" "" "0" "" "" "g.10650354T>C" "" "pathogenic (dominant)" "" "0001017250" "0" "90" "20" "10629280" "10629281" "del" "0" "03779" "JAG1_000060" "g.10629280_10629281del" "" "" "" "" "" "CLASSIFICATION record" "" "rs876660981" "0" "" "" "" "" "pathogenic" "" "0001017386" "0" "50" "20" "10653414" "10653414" "subst" "0" "03779" "JAG1_000857" "g.10653414T>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1242473299" "0" "" "" "" "" "VUS" "" "0001020257" "0" "90" "20" "10653630" "10653630" "subst" "0" "03779" "JAG1_000858" "g.10653630C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001022074" "0" "90" "20" "10630973" "10630973" "subst" "0" "04796" "JAG1_000067" "g.10630973C>T" "" "" "" "" "effect on RNA exclusion of exon" "Germline/De novo (untested)" "" "" "0" "" "" "g.10650325C>T" "" "pathogenic" "" "0001027288" "0" "30" "20" "10621899" "10621899" "subst" "9.35507E-5" "02329" "JAG1_000859" "g.10621899C>T" "" "" "" "JAG1(NM_000214.3):c.2917-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027289" "0" "30" "20" "10622214" "10622214" "subst" "0.00192595" "02329" "JAG1_000020" "g.10622214C>T" "" "" "" "JAG1(NM_000214.2):c.2810G>A (p.(Arg937Gln)), JAG1(NM_000214.3):c.2810G>A (p.R937Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027290" "0" "90" "20" "10622326" "10622326" "subst" "0" "02327" "JAG1_000024" "g.10622326G>A" "" "" "" "JAG1(NM_000214.3):c.2698C>T (p.R900*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001027291" "0" "90" "20" "10625625" "10625625" "subst" "0" "02325" "JAG1_000041" "g.10625625G>A" "" "" "" "JAG1(NM_000214.3):c.2230C>T (p.R744*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001027292" "0" "50" "20" "10626646" "10626646" "subst" "0" "02325" "JAG1_000860" "g.10626646C>T" "" "" "" "JAG1(NM_000214.3):c.1972G>A (p.G658S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027293" "0" "50" "20" "10628625" "10628625" "subst" "4.06547E-6" "02327" "JAG1_000861" "g.10628625C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027294" "0" "10" "20" "10629766" "10629766" "subst" "0.00153138" "02329" "JAG1_000793" "g.10629766A>C" "" "" "" "JAG1(NM_000214.3):c.1349-11T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027295" "0" "30" "20" "10653565" "10653565" "subst" "8.15282E-6" "02329" "JAG1_000862" "g.10653565G>T" "" "" "" "JAG1(NM_000214.3):c.171C>A (p.G57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027296" "0" "30" "20" "10653603" "10653603" "subst" "0.000632364" "02329" "JAG1_000437" "g.10653603C>A" "" "" "" "JAG1(NM_000214.3):c.133G>T (p.V45L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027297" "0" "30" "20" "10653676" "10653679" "dup" "0" "02329" "JAG1_000863" "g.10653676_10653679dup" "" "" "" "JAG1(NM_000214.3):c.82-21_82-18dupACCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043249" "0" "30" "20" "10620522" "10620522" "subst" "0.000154473" "01804" "JAG1_000632" "g.10620522C>T" "" "" "" "JAG1(NM_000214.3):c.3281G>A (p.R1094Q, p.(Arg1094Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043250" "0" "50" "20" "10621783" "10621783" "subst" "0" "01804" "JAG1_000864" "g.10621783T>C" "" "" "" "JAG1(NM_000214.3):c.3026A>G (p.(Asn1009Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043251" "0" "30" "20" "10621897" "10621897" "subst" "0" "01804" "JAG1_000865" "g.10621897A>G" "" "" "" "JAG1(NM_000214.3):c.2917-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043252" "0" "50" "20" "10625577" "10625577" "subst" "4.06065E-6" "01804" "JAG1_000866" "g.10625577C>T" "" "" "" "JAG1(NM_000214.3):c.2278G>A (p.(Val760Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043253" "0" "30" "20" "10625624" "10625624" "subst" "0.000921812" "01804" "JAG1_000458" "g.10625624C>T" "" "" "" "JAG1(NM_000214.3):c.2231G>A (p.R744Q, p.(Arg744Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043254" "0" "50" "20" "10628643" "10628643" "subst" "4.06289E-6" "01804" "JAG1_000867" "g.10628643T>C" "" "" "" "JAG1(NM_000214.3):c.1685A>G (p.(His562Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043255" "0" "30" "20" "10628720" "10628720" "subst" "7.7168E-5" "01804" "JAG1_000055" "g.10628720G>A" "" "" "" "JAG1(NM_000214.3):c.1608C>T (p.N536=, p.(Asn536=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043256" "0" "30" "20" "10628750" "10628750" "subst" "0.00129185" "01804" "JAG1_000057" "g.10628750G>A" "" "" "" "JAG1(NM_000214.3):c.1578C>T (p.I526=, p.(Ile526=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043257" "0" "30" "20" "10630248" "10630248" "subst" "2.43746E-5" "01804" "JAG1_000868" "g.10630248C>T" "" "" "" "JAG1(NM_000214.3):c.1270G>A (p.(Ala424Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043258" "0" "70" "20" "10653633" "10653633" "subst" "0" "02325" "JAG1_000869" "g.10653633A>G" "" "" "" "JAG1(NM_000214.3):c.103T>C (p.F35L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046764" "0" "50" "20" "10620558" "10620558" "subst" "0" "02325" "JAG1_000870" "g.10620558A>G" "" "" "" "JAG1(NM_000214.3):c.3245T>C (p.I1082T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046765" "0" "50" "20" "10628666" "10628666" "subst" "4.06167E-6" "02326" "JAG1_000871" "g.10628666G>T" "" "" "" "JAG1(NM_000214.3):c.1662C>A (p.D554E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047000" "0" "70" "20" "10620316" "10620316" "del" "0" "03779" "JAG1_000872" "g.10620316del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001047054" "0" "30" "20" "10653539" "10653539" "subst" "4.07024E-6" "03779" "JAG1_000873" "g.10653539C>T" "" "" "" "" "" "Unknown" "" "rs767480908" "0" "" "" "" "" "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 JAG1 ## Count = 1458 "{{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}}" "0000000897" "00000084" "50" "5229" "0" "5229" "0" "c.*1572A>G" "r.(=)" "p.(=)" "" "0000000898" "00000084" "50" "3528" "0" "3528" "0" "c.3528C>T" "r.(?)" "p.(=)" "" "0000000899" "00000084" "50" "756" "-67" "756" "-67" "c.756-67A>G" "r.(=)" "p.(=)" "" "0000019536" "00000084" "95" "1455" "0" "1456" "0" "c.1455_1456insTG" "r.(?)" "p.(Arg486*)" "12" "0000130168" "00000084" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Gln856*)" "" "0000247658" "00000084" "10" "909" "0" "909" "0" "c.909T>C" "r.(?)" "p.(His303=)" "" "0000248717" "00000084" "10" "3417" "0" "3417" "0" "c.3417T>C" "r.(?)" "p.(Tyr1139=)" "" "0000253367" "00000084" "10" "909" "0" "909" "0" "c.909T>C" "r.(?)" "p.(His303=)" "" "0000254794" "00000084" "30" "894" "0" "894" "0" "c.894T>C" "r.(?)" "p.(Asn298=)" "" "0000255422" "00000084" "90" "2026" "0" "2026" "0" "c.2026del" "r.(?)" "p.(Cys676AlafsTer67)" "" "0000255771" "00000084" "90" "2916" "2" "2916" "2" "c.2916+2T>C" "r.spl?" "p.?" "" "0000255772" "00000084" "90" "2682" "2" "2682" "2" "c.2682+2T>G" "r.spl?" "p.?" "" "0000256577" "00000084" "50" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Val136Ala)" "" "0000278144" "00000084" "10" "1578" "0" "1578" "0" "c.1578C>T" "r.(?)" "p.(Ile526=)" "" "0000278145" "00000084" "10" "1608" "0" "1608" "0" "c.1608C>T" "r.(?)" "p.(Asn536=)" "" "0000278146" "00000084" "10" "2573" "-16" "2573" "-16" "c.2573-16C>T" "r.(=)" "p.(=)" "" "0000278147" "00000084" "30" "2728" "0" "2728" "0" "c.2728G>A" "r.(?)" "p.(Glu910Lys)" "" "0000278148" "00000084" "10" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(Asn162=)" "" "0000278149" "00000084" "10" "694" "16" "694" "17" "c.694+16_694+17del" "r.(=)" "p.(=)" "" "0000278150" "00000084" "10" "886" "19" "886" "19" "c.886+19A>T" "r.(=)" "p.(=)" "" "0000281619" "00000084" "30" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Pro871Arg)" "" "0000281620" "00000084" "10" "2916" "27" "2916" "27" "c.2916+27dup" "r.(=)" "p.(=)" "" "0000281621" "00000084" "10" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Cys196=)" "" "0000281622" "00000084" "10" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(Tyr255=)" "" "0000281623" "00000084" "30" "886" "19" "886" "19" "c.886+19A>T" "r.(=)" "p.(=)" "" "0000281624" "00000084" "50" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Asn332Asp)" "" "0000285406" "00000084" "30" "1578" "0" "1578" "0" "c.1578C>T" "r.(?)" "p.(Ile526=)" "" "0000285407" "00000084" "10" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Pro871Arg)" "" "0000285408" "00000084" "10" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Val146Ile)" "" "0000285409" "00000084" "10" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Cys196=)" "" "0000285410" "00000084" "10" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(Tyr255=)" "" "0000285411" "00000084" "70" "820" "0" "820" "0" "c.820G>C" "r.(?)" "p.(Gly274Arg)" "" "0000289839" "00000084" "90" "1153" "0" "1153" "0" "c.1153del" "r.(?)" "p.(His385ThrfsTer27)" "" "0000289840" "00000084" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "" "0000289841" "00000084" "50" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Val399Met)" "" "0000289842" "00000084" "90" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Gln403Ter)" "" "0000289844" "00000084" "90" "1450" "0" "1453" "0" "c.1450_1453del" "r.(?)" "p.(Cys484ArgfsTer13)" "" "0000289845" "00000084" "90" "1459" "0" "1460" "0" "c.1459_1460del" "r.(?)" "p.(Asp487HisfsTer3)" "" "0000289846" "00000084" "90" "1485" "0" "1486" "0" "c.1485_1486del" "r.(?)" "p.(Cys496PhefsTer9)" "" "0000289847" "00000084" "90" "1499" "0" "1499" "0" "c.1499del" "r.(?)" "p.(Gly500ValfsTer64)" "" "0000289848" "00000084" "90" "1513" "0" "1513" "0" "c.1513G>T" "r.(?)" "p.(Glu505Ter)" "" "0000289849" "00000084" "10" "1578" "0" "1578" "0" "c.1578C>T" "r.(?)" "p.(Ile526=)" "" "0000289850" "00000084" "90" "1586" "0" "1586" "0" "c.1586del" "r.(?)" "p.(Cys529LeufsTer35)" "" "0000289851" "00000084" "10" "1721" "-21" "1721" "-21" "c.1721-21G>A" "r.(=)" "p.(=)" "" "0000289852" "00000084" "30" "1755" "0" "1755" "0" "c.1755C>T" "r.(?)" "p.(Asn585=)" "" "0000289853" "00000084" "30" "1875" "0" "1875" "0" "c.1875C>T" "r.(?)" "p.(Tyr625=)" "" "0000289854" "00000084" "90" "1899" "0" "1900" "0" "c.1899_1900del" "r.(?)" "p.(Cys633Ter)" "" "0000289856" "00000084" "90" "1978" "0" "1978" "0" "c.1978G>T" "r.(?)" "p.(Glu660Ter)" "" "0000289857" "00000084" "90" "2095" "0" "2095" "0" "c.2095G>T" "r.(?)" "p.(Gly699Ter)" "" "0000289858" "00000084" "90" "2114" "-11" "2114" "-1" "c.2114-11_2114-1del" "r.spl?" "p.?" "" "0000289859" "00000084" "90" "2118" "0" "2119" "0" "c.2118_2119del" "r.(?)" "p.(Asp706GlufsTer4)" "" "0000289860" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708ValfsTer34)" "" "0000289861" "00000084" "10" "2199" "0" "2199" "0" "c.2199C>T" "r.(?)" "p.(Gly733=)" "" "0000289862" "00000084" "90" "2209" "0" "2212" "0" "c.2209_2212del" "r.(?)" "p.(Gly737GlnfsTer5)" "" "0000289863" "00000084" "10" "2227" "17" "2227" "17" "c.2227+17C>T" "r.(=)" "p.(=)" "" "0000289864" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744Ter)" "" "0000289865" "00000084" "90" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Cys768Ter)" "" "0000289866" "00000084" "90" "2344" "0" "2344" "1" "c.2344_2344+1del" "r.spl?" "p.?" "" "0000289867" "00000084" "90" "2344" "2" "2344" "2" "c.2344+2del" "r.spl?" "p.?" "" "0000289868" "00000084" "10" "2382" "0" "2382" "0" "c.2382C>T" "r.(?)" "p.(Ser794=)" "" "0000289869" "00000084" "90" "2397" "0" "2400" "0" "c.2397_2400del" "r.(?)" "p.(Asp799GlufsTer20)" "" "0000289870" "00000084" "90" "2419" "0" "2419" "0" "c.2419G>T" "r.(?)" "p.(Glu807Ter)" "" "0000289871" "00000084" "10" "2458" "28" "2458" "28" "c.2458+28C>T" "r.(=)" "p.(=)" "" "0000289872" "00000084" "10" "2458" "30" "2458" "30" "c.2458+30A>G" "r.(=)" "p.(=)" "" "0000289873" "00000084" "10" "2459" "-17" "2459" "-17" "c.2459-17A>C" "r.(=)" "p.(=)" "" "0000289874" "00000084" "90" "2572" "1" "2572" "1" "c.2572+1G>T" "r.spl?" "p.?" "" "0000289875" "00000084" "90" "2605" "0" "2605" "0" "c.2605del" "r.(?)" "p.(Val869Ter)" "" "0000289876" "00000084" "10" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Pro871Arg)" "" "0000289877" "00000084" "90" "2627" "0" "2627" "0" "c.2627G>A" "r.(?)" "p.(Trp876Ter)" "" "0000289878" "00000084" "50" "2651" "0" "2651" "0" "c.2651A>C" "r.(?)" "p.(Gln884Pro)" "" "0000289879" "00000084" "10" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Gly89=)" "" "0000289880" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900Ter)" "" "0000289881" "00000084" "10" "270" "0" "270" "0" "c.270G>T" "r.(?)" "p.(Gly90=)" "" "0000289882" "00000084" "10" "2766" "0" "2766" "0" "c.2766C>T" "r.(?)" "p.(Asp922=)" "" "0000289883" "00000084" "30" "2778" "0" "2778" "0" "c.2778C>T" "r.(?)" "p.(Phe926=)" "" "0000289884" "00000084" "50" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937Gln)" "" "0000289886" "00000084" "10" "2917" "-30" "2917" "-30" "c.2917-30A>G" "r.(=)" "p.(=)" "" "0000289887" "00000084" "10" "2917" "-31" "2917" "-31" "c.2917-31del" "r.(=)" "p.(=)" "" "0000289888" "00000084" "90" "2932" "0" "2951" "0" "c.2932_2951del" "r.(?)" "p.(His978GlufsTer11)" "" "0000289889" "00000084" "10" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Ser98=)" "" "0000289890" "00000084" "30" "3048" "30" "3048" "30" "c.3048+30A>C" "r.(=)" "p.(=)" "" "0000289892" "00000084" "90" "3195" "0" "3199" "0" "c.3195_3199del" "r.(?)" "p.(Thr1066PhefsTer41)" "" "0000289893" "00000084" "50" "3391" "0" "3391" "0" "c.3391G>A" "r.(?)" "p.(Ala1131Thr)" "" "0000289895" "00000084" "10" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Val146Ile)" "" "0000289896" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl?" "p.?" "" "0000289897" "00000084" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147Ter)" "" "0000289899" "00000084" "90" "440" "-1" "440" "-1" "c.440-1G>C" "r.spl?" "p.?" "" "0000289900" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "" "0000289901" "00000084" "90" "573" "0" "573" "0" "c.573C>A" "r.(?)" "p.(Tyr191Ter)" "" "0000289902" "00000084" "10" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Cys196=)" "" "0000289903" "00000084" "50" "610" "0" "610" "0" "c.610G>C" "r.(?)" "p.(Asp204His)" "" "0000289904" "00000084" "90" "68" "0" "69" "0" "c.68_69delinsG" "r.(?)" "p.(Ala23GlyfsTer23)" "" "0000289905" "00000084" "90" "694" "1" "694" "1" "c.694+1G>A" "r.spl?" "p.?" "" "0000289906" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Ter)" "" "0000289907" "00000084" "90" "714" "0" "714" "0" "c.714C>A" "r.(?)" "p.(Cys238Ter)" "" "0000289908" "00000084" "10" "744" "0" "744" "0" "c.744A>G" "r.(?)" "p.(Pro248=)" "" "0000289909" "00000084" "90" "800" "0" "800" "0" "c.800del" "r.(?)" "p.(Pro267HisfsTer145)" "" "0000289910" "00000084" "90" "976" "0" "976" "0" "c.976G>T" "r.(?)" "p.(Glu326Ter)" "" "0000289911" "00000084" "50" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Asn332Asp)" "" "0000328305" "00000084" "50" "3287" "0" "3287" "0" "c.3287G>A" "r.(?)" "p.(Arg1096Gln)" "" "0000328306" "00000084" "50" "2927" "0" "2927" "0" "c.2927C>G" "r.(?)" "p.(Thr976Arg)" "" "0000328307" "00000084" "30" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937Gln)" "" "0000328309" "00000084" "50" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ser372Phe)" "" "0000328312" "00000084" "50" "349" "0" "349" "0" "c.349C>G" "r.(?)" "p.(Arg117Gly)" "" "0000344310" "00000084" "70" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Cys212Tyr)" "" "0000348665" "00000084" "30" "3431" "0" "3431" "0" "c.3431C>A" "r.(?)" "p.(Ser1144Tyr)" "" "0000470539" "00000084" "90" "1713" "0" "1713" "0" "c.1713del" "r.(?)" "p.(Cys572Valfs*3)" "" "0000484113" "00000084" "90" "3" "0" "4" "0" "c.3_4delinsTT" "r.(?)" "p.0?" "1" "0000484114" "00000084" "90" "11" "0" "11" "0" "c.11dup" "r.(?)" "p.(Arg5Thrfs*68)" "1" "0000484115" "00000084" "90" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Leu17Pro)" "1" "0000484116" "00000084" "90" "53" "0" "73" "0" "c.53_73del" "r.(?)" "p.(Leu18_Leu24del)" "1" "0000484117" "00000084" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.(Leu20Pro)" "1" "0000484118" "00000084" "70" "59" "0" "59" "0" "c.59T>G" "r.(?)" "p.(Leu20Arg)" "1" "0000484119" "00000084" "70" "63" "0" "74" "0" "c.63_74del" "r.(?)" "p.(Cys22_Arg25del)" "1" "0000484120" "00000084" "70" "64" "0" "64" "0" "c.64T>C" "r.(?)" "p.(Cys22Arg)" "1" "0000484121" "00000084" "90" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937Gln)" "" "0000484122" "00000084" "90" "2458" "2" "2458" "5" "c.2458+2_2458+5del" "r.spl" "p.?" "" "0000484123" "00000084" "90" "81" "1" "81" "1" "c.81+1G>A" "r.spl" "p.?" "" "0000484125" "00000084" "90" "97" "0" "97" "0" "c.97G>C" "r.(?)" "p.(Gly33Arg)" "2" "0000484175" "00000084" "90" "2458" "2" "2458" "5" "c.2458+2_2458+5del" "r.spl" "p.?" "" "0000484179" "00000084" "90" "100" "0" "103" "0" "c.100_103del" "r.(?)" "p.(Gln34Serfs*11)" "2" "0000484180" "00000084" "70" "104" "0" "104" "0" "c.104T>C" "r.(?)" "p.(Phe35Ser)" "2" "0000484182" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "" "0000484183" "00000084" "90" "437" "0" "439" "11" "c.437_439+11del" "r.spl" "p.?" "2" "0000484186" "00000084" "90" "141" "0" "142" "0" "c.141_142del" "r.(?)" "p.(Glu48Alafs*24)" "2" "0000484187" "00000084" "90" "388" "-18" "390" "0" "c.388-18_390del" "r.?" "p.?" "" "0000484191" "00000084" "90" "161" "0" "162" "0" "c.161_162delinsAA" "r.(?)" "p.(Cys54*)" "2" "0000484200" "00000084" "90" "187" "0" "188" "0" "c.187_188del" "r.(?)" "p.(Asp63Profs*9)" "2" "0000484201" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl" "p.?" "" "0000484202" "00000084" "70" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(Tyr74Cys)" "2" "0000484203" "00000084" "90" "232" "0" "232" "0" "c.232T>A" "r.(?)" "p.(Cys78Ser)" "2" "0000484205" "00000084" "70" "232" "0" "232" "0" "c.232T>G" "r.(?)" "p.(Cys78Gly)" "2" "0000484206" "00000084" "90" "237" "0" "237" "0" "c.237dup" "r.(?)" "p.(Lys80Glnfs*64)" "2" "0000484215" "00000084" "90" "270" "0" "270" "0" "c.270dup" "r.(?)" "p.(Pro91Alafs*53)" "2" "0000484221" "00000084" "70" "283" "0" "283" "0" "c.283G>C" "r.(?)" "p.(Gly95Arg)" "2" "0000484233" "00000084" "90" "311" "0" "311" "0" "c.311dup" "r.(?)" "p.(Asn105Glnfs*39)" "2" "0000484234" "00000084" "90" "337" "0" "337" "0" "c.337dup" "r.(?)" "p.(Arg113Profs*31)" "2" "0000484235" "00000084" "90" "387" "1" "387" "1" "c.387+1G>A" "r.spl" "p.?" "" "0000484237" "00000084" "70" "388" "-17" "391" "0" "c.388-17_391del" "r.spl" "p.?" "2i_3i" "0000484238" "00000084" "90" "388" "-1" "388" "-1" "c.388-1G>C" "r.spl" "p.?" "" "0000484395" "00000084" "10" "105" "0" "105" "0" "c.105C>T" "r.(=)" "p.(=)" "" "0000484396" "00000084" "70" "1395" "0" "1395" "0" "c.1395G>T" "r.spl?" "p.?" "" "0000484397" "00000084" "10" "294" "0" "294" "0" "c.294C>T" "r.(=)" "p.(=)" "" "0000484398" "00000084" "90" "1492" "0" "1495" "0" "c.1492_1495del" "r.(?)" "p.(Asn498Glyfs*65)" "12" "0000484399" "00000084" "10" "270" "0" "270" "0" "c.270G>T" "r.(=)" "p.(=)" "" "0000484400" "00000084" "10" "267" "0" "267" "0" "c.267G>A" "r.(=)" "p.(=)" "" "0000484401" "00000084" "10" "744" "0" "744" "0" "c.744A>G" "r.(=)" "p.(=)" "5" "0000484402" "00000084" "10" "765" "0" "765" "0" "c.765C>T" "r.(=)" "p.(=)" "" "0000484403" "00000084" "90" "2690" "0" "2694" "0" "c.2690_2694dup" "r.(?)" "p.(Pro899Valfs*48)" "23" "0000484404" "00000084" "10" "588" "0" "588" "0" "c.588C>T" "r.(=)" "p.(=)" "4" "0000484405" "00000084" "10" "942" "0" "942" "0" "c.942C>T" "r.(=)" "p.(=)" "" "0000484406" "00000084" "10" "1389" "0" "1389" "0" "c.1389C>T" "r.(=)" "p.(=)" "" "0000484407" "00000084" "10" "2214" "0" "2214" "0" "c.2214A>C" "r.(?)" "p.(=)" "" "0000484408" "00000084" "10" "3528" "0" "3528" "0" "c.3528C>T" "r.(?)" "p.(=)" "" "0000484409" "00000084" "50" "588" "0" "588" "0" "c.588C>T" "r.(=)" "p.(=)" "" "0000484410" "00000084" "10" "1578" "0" "1578" "0" "c.1578C>T" "r.(=)" "p.(=)" "" "0000484411" "00000084" "10" "2382" "0" "2382" "0" "c.2382C>T" "r.(=)" "p.(=)" "" "0000484412" "00000084" "90" "2678" "0" "2678" "0" "c.2678C>G" "r.(?)" "p.(Ser893*)" "22" "0000484413" "00000084" "10" "3417" "0" "3417" "0" "c.3417T>C" "r.(?)" "p.(=)" "" "0000484414" "00000084" "10" "2214" "0" "2214" "0" "c.2214A>C" "r.(?)" "p.(=)" "" "0000484415" "00000084" "10" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Pro871Arg)" "" "0000484416" "00000084" "10" "2382" "0" "2382" "0" "c.2382C>T" "r.(=)" "p.(=)" "" "0000484417" "00000084" "10" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0000484418" "00000084" "90" "3003" "0" "3006" "0" "c.3003_3006del" "r.(?)" "p.(Cys1002Serfs*33)" "24" "0000484419" "00000084" "10" "3417" "0" "3417" "0" "c.3417T>C" "r.(?)" "p.(=)" "" "0000484420" "00000084" "90" "2650" "0" "2650" "0" "c.2650C>T" "r.(?)" "p.(Gln884*)" "" "0000484421" "00000084" "50" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Pro871Arg)" "22" "0000484422" "00000084" "90" "2372" "1" "2372" "1" "c.2372+1G>A" "r.spl" "p.?" "19i" "0000484423" "00000084" "10" "2766" "0" "2766" "0" "c.2766C>T" "r.(=)" "p.(=)" "" "0000484424" "00000084" "90" "886" "2" "886" "2" "c.886+2T>G" "r.spl" "p.?" "6i" "0000484425" "00000084" "90" "2650" "0" "2650" "0" "c.2650C>T" "r.(?)" "p.(Gln884*)" "" "0000484426" "00000084" "10" "3528" "0" "3528" "0" "c.3528C>T" "r.(?)" "p.(=)" "" "0000484427" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "" "0000484428" "00000084" "90" "1485" "0" "1486" "0" "c.1485_1486del" "r.(?)" "p.(Cys496Phefs*9)" "" "0000484429" "00000084" "90" "1395" "3" "1395" "3" "c.1395+3A>G" "r.spl?" "p.?" "" "0000484430" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "" "0000484431" "00000084" "90" "695" "-2" "695" "-2" "c.695-2A>G" "r.spl" "p.?" "" "0000484432" "00000084" "90" "2609" "0" "2609" "0" "c.2609dup" "r.(?)" "p.(Pro871Thrfs*8)" "22" "0000484433" "00000084" "90" "3035" "0" "3036" "0" "c.3035_3036dup" "r.(?)" "p.(His1013Tyrfs*24)" "24" "0000484434" "00000084" "90" "1206" "0" "1206" "0" "c.1206dup" "r.(?)" "p.(Gln403Thrfs*13)" "9" "0000484435" "00000084" "90" "3224" "0" "3225" "0" "c.3224_3225del" "r.(?)" "p.(Ser1075Cysfs*33)" "26" "0000484436" "00000084" "90" "765" "0" "765" "0" "c.765C>A" "r.(?)" "p.(Tyr255*)" "6" "0000484437" "00000084" "90" "1396" "-9" "1396" "-2" "c.1396-9_1396-2del" "r.spl" "p.?" "11i" "0000484438" "00000084" "90" "2110" "0" "2110" "0" "c.2110del" "r.(?)" "p.(Ser704Hisfs*39)" "16" "0000484439" "00000084" "90" "757" "0" "757" "0" "c.757dup" "r.(?)" "p.(Cys253Leufs*11)" "6" "0000484440" "00000084" "90" "3001" "0" "3020" "0" "c.3001_3020del" "r.(?)" "p.(Ala1001Serfs*4)" "24" "0000484441" "00000084" "90" "1713" "0" "1714" "0" "c.1713_1714del" "r.(?)" "p.(Cys572*)" "13" "0000484442" "00000084" "90" "3164" "0" "3167" "0" "c.3164_3167del" "r.(?)" "p.(Val1055Glufs*7)" "25" "0000484443" "00000084" "90" "2372" "3" "2372" "6" "c.2372+3_2372+6del" "r.spl?" "p.?" "19i" "0000484444" "00000084" "90" "3012" "0" "3016" "0" "c.3012_3016dup" "r.(?)" "p.(Pro1006Leufs*32)" "24" "0000484445" "00000084" "90" "2174" "0" "2174" "0" "c.2174dup" "r.(?)" "p.(Asp725Glufs*4)" "17" "0000484446" "00000084" "90" "41" "0" "41" "0" "c.41del" "r.(?)" "p.(Leu14Glnfs*32)" "1" "0000484447" "00000084" "90" "3027" "0" "3027" "0" "c.3027del" "r.(?)" "p.(Asn1009Lysfs*27)" "24" "0000484448" "00000084" "90" "1459" "0" "1460" "0" "c.1459_1460del" "r.(?)" "p.(Asp487Hisfs*3)" "12" "0000484449" "00000084" "90" "1212" "0" "1212" "0" "c.1212del" "r.(?)" "p.(Trp404*)" "9" "0000484450" "00000084" "90" "2039" "0" "2039" "0" "c.2039dup" "r.(?)" "p.(Thr681Hisfs*8)" "16" "0000484451" "00000084" "90" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Tyr328Valfs*7)" "7" "0000484452" "00000084" "90" "1998" "0" "1998" "0" "c.1998dup" "r.(?)" "p.(Asn667Glnfs*3)" "15" "0000484453" "00000084" "90" "1485" "0" "1486" "0" "c.1485_1486del" "r.(?)" "p.(Cys496Phefs*9)" "12" "0000484454" "00000084" "90" "3196" "0" "3196" "0" "c.3196dup" "r.(?)" "p.(Thr1066Asnfs*43)" "25" "0000484455" "00000084" "90" "1463" "0" "1463" "0" "c.1463del" "r.(?)" "p.(Ile488Thrfs*10)" "12" "0000484456" "00000084" "90" "2458" "2" "2458" "5" "c.2458+2_2458+5del" "r.spl" "p.?" "20i" "0000484457" "00000084" "90" "1121" "0" "1122" "0" "c.1121_1122insT" "r.(?)" "p.(Ile375Hisfs*2)" "9" "0000484458" "00000084" "90" "2926" "0" "2926" "0" "c.2926dup" "r.(?)" "p.(Thr976Asnfs*7)" "24" "0000484459" "00000084" "90" "146" "0" "146" "0" "c.146del" "r.(?)" "p.(Leu49Argfs*112)" "2" "0000484460" "00000084" "90" "2810" "0" "2817" "0" "c.2810_2817dup" "r.(?)" "p.(Ser940Glyfs*8)" "23" "0000484461" "00000084" "90" "2073" "0" "2073" "0" "c.2073dup" "r.(?)" "p.(Asp692*)" "16" "0000484462" "00000084" "90" "1899" "0" "1900" "0" "c.1899_1900del" "r.(?)" "p.(Cys633*)" "15" "0000484463" "00000084" "90" "1809" "0" "1810" "0" "c.1809_1810dup" "r.(?)" "p.(Lys604Argfs*140)" "14" "0000484464" "00000084" "90" "685" "0" "685" "0" "c.685T>G" "r.(?)" "p.(Cys229Gly)" "4" "0000484465" "00000084" "90" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Gln390*)" "9" "0000484466" "00000084" "90" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Pro163Leu)" "4" "0000484467" "00000084" "90" "386" "0" "386" "0" "c.386C>G" "r.(?)" "p.(Pro129Arg)" "2" "0000484468" "00000084" "90" "550" "0" "550" "0" "c.550C>G" "r.(?)" "p.(Arg184Gly)" "4" "0000484469" "00000084" "90" "3007" "0" "3007" "0" "c.3007G>T" "r.(?)" "p.(Glu1003*)" "24" "0000484470" "00000084" "90" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Ala127Thr)" "2" "0000484471" "00000084" "90" "236" "0" "236" "0" "c.236T>A" "r.(?)" "p.(Leu79His)" "2" "0000484472" "00000084" "90" "2218" "0" "2218" "0" "c.2218T>C" "r.(?)" "p.(Cys740Arg)" "17" "0000484473" "00000084" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258*)" "6" "0000484474" "00000084" "90" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Gln166*)" "4" "0000484475" "00000084" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Arg25*)" "1" "0000484476" "00000084" "90" "2191" "0" "2191" "0" "c.2191T>A" "r.(?)" "p.(Cys731Ser)" "17" "0000484477" "00000084" "90" "573" "0" "573" "0" "c.573C>G" "r.(?)" "p.(Tyr191*)" "4" "0000484478" "00000084" "90" "1875" "0" "1875" "0" "c.1875C>G" "r.(?)" "p.(Tyr625*)" "14" "0000484479" "00000084" "90" "2111" "0" "2111" "0" "c.2111C>G" "r.(?)" "p.(Ser704*)" "16" "0000484480" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900*)" "23" "0000484481" "00000084" "90" "3006" "0" "3006" "0" "c.3006C>A" "r.(?)" 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"p.(Arg1213Gln)" "26" "0000484738" "00000084" "90" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Pro871Arg)" "22" "0000484739" "00000084" "90" "194" "0" "194" "0" "c.194A>T" "r.(?)" "p.(Lys65Met)" "2" "0000484740" "00000084" "90" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Arg203Lys)" "4" "0000484741" "00000084" "90" "2724" "0" "2724" "0" "c.2724C>G" "r.(?)" "p.(His908Gln)" "23" "0000484742" "00000084" "90" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Val45Leu)" "2" "0000484743" "00000084" "90" "2068" "0" "2068" "0" "c.2068T>G" "r.(?)" "p.(Tyr690Asp)" "16" "0000484744" "00000084" "90" "2762" "0" "2762" "0" "c.2762T>C" "r.(?)" "p.(Leu921Pro)" "23" "0000484745" "00000084" "90" "157" "0" "157" "0" "c.157A>G" "r.(?)" "p.(Asn53Asp)" "2" "0000484746" "00000084" "50" "440" "-173" "440" "-173" "c.440-173C>T" "r.(?)" "p.(=)" "" "0000484747" "00000084" "90" "3257" "0" "3257" "0" "c.3257T>A" "r.(?)" "p.(Val1086Glu)" "26" "0000484748" "00000084" "90" "753" "0" "753" "0" "c.753C>A" "r.(?)" "p.(Cys251*)" "5" "0000484749" "00000084" "90" "701" "0" "701" "0" "c.701G>A" "r.(?)" "p.(Cys234Tyr)" "5" "0000484750" "00000084" "90" "1991" "0" "1991" "0" "c.1991G>C" "r.(?)" "p.(Cys664Ser)" "15" "0000484751" "00000084" "90" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Gly274Asp)" "6" "0000484752" "00000084" "90" "3312" "0" "3312" "0" "c.3312C>G" "r.(?)" "p.(His1104Gln)" "26" "0000484753" "00000084" "90" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Pro810Leu)" "20" "0000484754" "00000084" "90" "415" "0" "416" "0" "c.415_416dup" "r.(?)" "p.(Trp139Cysfs*23)" "3" "0000484755" "00000084" "70" "925" "0" "925" "0" "c.925G>C" "r.(?)" "p.(Gly309Arg)" "7" "0000484756" "00000084" "90" "3601" "0" "3601" "0" "c.3601dup" "r.(?)" "p.(Asp1201Glyfs*28)" "26" "0000484757" "00000084" "90" "3023" "0" "3024" "0" "c.3023_3024dup" "r.(?)" "p.(Asn1009Argfs*28)" "24" "0000484758" "00000084" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Val272Phe)" "6" "0000484759" "00000084" "90" "834" "0" "834" "0" "c.834G>T" "r.(?)" "p.(Glu278Asp)" "6" "0000484760" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000484761" "00000084" "90" "693" "0" "694" "0" "c.693_694del" "r.spl?" "p.(Arg231Serfs*10)" "" "0000484762" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000484763" "00000084" "90" "1656" "0" "1656" "0" "c.1656del" "r.(?)" "p.(Glu553Argfs*11)" "" "0000484764" "00000084" "90" "2639" "0" "2640" "0" "c.2639_2640del" "r.(?)" "p.(Cys880*)" "" "0000484765" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000484766" "00000084" "90" "2688" "0" "2689" "0" "c.2688_2689ins(5)" "r.(?)" "p.(Cys897fs)" "" "0000484767" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000484768" "00000084" "90" "886" "2" "886" "2" "c.886+2T>G" "r.spl" "p.?" "6i" "0000484769" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "" "0000484770" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "" "0000484772" "00000084" "90" "765" "0" "765" "0" "c.765C>A" "r.(?)" "p.(Tyr255*)" "" "0000484773" "00000084" "50" "861" "0" "861" "0" "c.861C>T" "r.(=)" "p.(=)" "" "0000484774" "00000084" "90" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937Gln)" "" "0000484775" "00000084" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147*)" "" "0000487109" "00000084" "70" "401" "0" "401" "0" "c.401T>C" "r.(?)" "p.(Leu134Ser)" "3" "0000569028" "00000084" "30" "3665" "0" "3665" "0" "c.*8C>T" "r.(=)" "p.(=)" "" "0000569029" "00000084" "70" "3558" "0" "3558" "0" "c.3558dup" "r.(?)" "p.(Asn1187GlnfsTer42)" "" "0000569030" "00000084" "30" "3530" "0" "3530" "0" "c.3530C>T" "r.(?)" "p.(Thr1177Met)" "" "0000569031" "00000084" "10" "3528" "0" "3528" "0" "c.3528C>T" "r.(?)" "p.(Tyr1176=)" "" "0000569032" "00000084" "10" "3528" "0" "3528" "0" "c.3528C>T" "r.(?)" "p.(Tyr1176=)" "" "0000569033" "00000084" "30" "3480" "0" "3480" "0" "c.3480C>T" "r.(?)" "p.(Asp1160=)" "" "0000569034" "00000084" "30" "3467" "0" "3467" "0" "c.3467T>C" "r.(?)" "p.(Val1156Ala)" "" "0000569035" "00000084" "50" "3467" "0" "3467" "0" "c.3467T>C" "r.(?)" "p.(Val1156Ala)" "" "0000569036" "00000084" "10" "3417" "0" "3417" "0" "c.3417T>C" "r.(?)" "p.(Tyr1139=)" "" "0000569037" "00000084" "10" "3417" "0" "3417" "0" "c.3417T>C" "r.(?)" "p.(Tyr1139=)" "" "0000569038" "00000084" "50" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Arg1097Trp)" "" "0000569039" "00000084" "50" "3287" "0" "3295" "0" "c.3287_3295dup" "r.(?)" "p.(Arg1096_Lys1098dup)" "" "0000569040" "00000084" "10" "2917" "-30" "2917" "-30" "c.2917-30A>G" "r.(=)" "p.(=)" "" "0000569042" "00000084" "90" "2898" "0" "2898" "0" "c.2898dup" "r.(?)" "p.(Lys967GlnfsTer16)" "" "0000569043" "00000084" "30" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937Gln)" "" "0000569044" "00000084" "30" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937Gln)" "" "0000569045" "00000084" "50" "2767" "0" "2767" "0" "c.2767G>A" "r.(?)" "p.(Asp923Asn)" "" "0000569046" "00000084" "10" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Pro871Arg)" "" "0000569047" "00000084" "10" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Pro871Arg)" "" "0000569048" "00000084" "10" "2459" "-17" "2459" "-17" "c.2459-17A>C" "r.(=)" "p.(=)" "" "0000569049" "00000084" "10" "2382" "0" "2382" "0" "c.2382C>T" "r.(?)" "p.(Ser794=)" "" "0000569050" "00000084" "50" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0000569052" "00000084" "10" "2227" "17" "2227" "17" "c.2227+17C>T" "r.(=)" "p.(=)" "" "0000569053" "00000084" "10" "2214" "0" "2214" "0" "c.2214A>C" "r.(?)" "p.(Thr738=)" "" "0000569054" "00000084" "10" "2214" "0" "2214" "0" "c.2214A>C" "r.(?)" "p.(Thr738=)" "" "0000569055" "00000084" "30" "2214" "0" "2214" "0" "c.2214A>C" "r.(?)" "p.(Thr738=)" "" "0000569056" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708ValfsTer34)" "" "0000569057" "00000084" "10" "2113" "13" "2113" "13" "c.2113+13T>G" "r.(=)" "p.(=)" "" "0000569058" "00000084" "50" "2076" "0" "2076" "0" "c.2076C>G" "r.(?)" "p.(Asp692Glu)" "" "0000569059" "00000084" "50" "2076" "0" "2076" "0" "c.2076C>A" "r.(?)" "p.(Asp692Glu)" "" "0000569060" "00000084" "50" "2076" "0" "2076" "0" "c.2076C>A" "r.(?)" "p.(Asp692Glu)" "" "0000569061" "00000084" "30" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(Arg683=)" "" "0000569062" "00000084" "50" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Cys)" "" "0000569063" "00000084" "30" "1920" "0" "1920" "0" "c.1920C>T" "r.(?)" "p.(Asn640=)" "" "0000569064" "00000084" "10" "1866" "0" "1866" "0" "c.1866G>A" "r.(?)" "p.(Thr622=)" "" "0000569065" "00000084" "70" "1670" "0" "1670" "0" "c.1670G>A" "r.(?)" "p.(Gly557Asp)" "" "0000569066" "00000084" "50" "1655" "0" "1655" "0" "c.1655C>T" "r.(?)" "p.(Pro552Leu)" "" "0000569067" "00000084" "30" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Asp487=)" "" "0000569068" "00000084" "10" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Ala480Val)" "" "0000569069" "00000084" "90" "1395" "1" "1395" "1" "c.1395+1G>T" "r.spl?" "p.?" "" "0000569070" "00000084" "90" "1349" "-1" "1349" "-1" "c.1349-1G>A" "r.spl?" "p.?" "" "0000569071" "00000084" "10" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(Pro440=)" "" "0000569072" "00000084" "10" "1235" "-72" "1235" "-72" "c.1235-72dup" "r.(=)" "p.(=)" "" "0000569073" "00000084" "30" "1200" "0" "1200" "0" "c.1200C>T" "r.(?)" "p.(Cys400=)" "" "0000569074" "00000084" "30" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ser372Phe)" "" "0000569075" "00000084" "50" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Gly368Ser)" "" "0000569076" "00000084" "30" "1066" "0" "1066" "0" "c.1066C>G" "r.(?)" "p.(Leu356Val)" "" "0000569077" "00000084" "30" "992" "0" "992" "0" "c.992C>A" "r.(?)" "p.(Pro331His)" "" "0000569078" "00000084" "10" "924" "0" "924" "0" "c.924C>T" "r.(?)" "p.(Asn308=)" "" "0000569079" "00000084" "30" "924" "0" "924" "0" "c.924C>T" "r.(?)" "p.(Asn308=)" "" "0000569080" "00000084" "10" "909" "0" "909" "0" "c.909T>C" "r.(?)" "p.(His303=)" "" "0000569081" "00000084" "90" "887" "-2" "887" "-2" "c.887-2A>G" "r.spl?" "p.?" "" "0000569082" "00000084" "50" "807" "0" "807" "0" "c.807G>A" "r.(?)" "p.(Pro269=)" "" "0000569083" "00000084" "10" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(Tyr255=)" "" "0000569084" "00000084" "30" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(Tyr255=)" "" "0000569085" "00000084" "10" "744" "0" "744" "0" "c.744A>G" "r.(?)" "p.(Pro248=)" "" "0000569086" "00000084" "10" "744" "0" "744" "0" "c.744A>G" "r.(?)" "p.(Pro248=)" "" "0000569087" "00000084" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Cys212Tyr)" "" "0000569088" "00000084" "90" "600" "0" "600" "0" "c.600C>A" "r.(?)" "p.(Cys200Ter)" "" "0000569089" "00000084" "10" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Cys196=)" "" "0000569090" "00000084" "10" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Cys196=)" "" "0000569091" "00000084" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "" "0000569092" "00000084" "10" "440" "-15" "440" "-15" "c.440-15T>C" "r.(=)" "p.(=)" "" "0000569093" "00000084" "10" "440" "-15" "440" "-15" "c.440-15T>C" "r.(=)" "p.(=)" "" "0000569094" "00000084" "10" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Val146Ile)" "" "0000569095" "00000084" "30" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Val146Ile)" "" "0000569096" "00000084" "30" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Ala138=)" "" "0000569097" "00000084" "70" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Val136Ala)" "" "0000569098" "00000084" "90" "311" "0" "314" "0" "c.311_314dup" "r.(?)" "p.(Asn105LysfsTer40)" "" "0000569099" "00000084" "50" "307" "0" "307" "0" "c.307G>C" "r.(?)" "p.(Gly103Arg)" "" "0000569100" "00000084" "10" "270" "0" "270" "0" "c.270G>T" "r.(?)" "p.(Gly90=)" "" "0000569101" "00000084" "10" "270" "0" "270" "0" "c.270G>T" "r.(?)" "p.(Gly90=)" "" "0000569102" "00000084" "10" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Gly89=)" "" "0000569103" "00000084" "30" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Gly89=)" "" "0000569104" "00000084" "90" "192" "0" "192" "0" "c.192dup" "r.(?)" "p.(Lys65GlnfsTer8)" "" "0000569105" "00000084" "30" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Val45Leu)" "" "0000579828" "00000084" "70" "802" "0" "802" "0" "c.802del" "r.(?)" "p.(His268Thrfs*144)" "" "0000593668" "00000084" "90" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Ala138Val)" "" "0000593669" "00000084" "90" "1415" "0" "1415" "0" "c.1415G>A" "r.(?)" "p.(Arg472His)" "" "0000593671" "00000084" "90" "2884" "0" "2884" "0" "c.2884A>G" "r.(?)" "p.(Thr962Ala)" "" "0000595165" "00000084" "50" "401" "0" "401" "0" "c.401T>C" "r.(?)" "p.(Leu134Ser)" "3" "0000595166" "00000084" "90" "435" "0" "439" "2" "c.435_439+2delinsAG" "r.436_439del" "p.(Val146_Gln147delinsGlu)" "3" "0000595167" "00000084" "90" "438" "0" "439" "2" "c.438_439+2del" "r.436_439del" "p.Val146Asnfs*14" "3" "0000595168" "00000084" "90" "438" "0" "439" "2" "c.438_439+2del" "r.436_439del" "p.Val146Asnfs*14" "3" "0000595170" "00000084" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147*)" "3" "0000595171" "00000084" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147*)" "3" "0000595172" "00000084" "90" "439" "1" "439" "1" "c.439+1G>T" "r.spl" "p.Arg130Asnfs*14" "3i" "0000595173" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl" "p.?" "3i" "0000595174" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl" "p.?" "3i" "0000595175" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl" "p.?" "3i" "0000595176" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl" "p.?" "3i" "0000595177" "00000084" "90" "439" "1" "439" "1" "c.439+1G>C" "r.spl" "p.Arg130Asnfs*14" "3i" "0000595178" "00000084" "90" "439" "5" "439" "5" "c.439+5G>A" "r.388_439del" "p.?" "3i" "0000595179" "00000084" "90" "439" "5" "439" "5" "c.439+5G>A" "r.388_439del" "p.?" "3i" "0000595180" "00000084" "90" "439" "5" "439" "5" "c.439+5G>A" "r.spl?" "p.?" "3i" "0000595181" "00000084" "90" "439" "6" "439" "6" "c.439+6T>A" "r.spl" "p.?" "3i" "0000595183" "00000084" "70" "463" "0" "463" "0" "c.463G>C" "r.(?)" "p.(Ala155Pro)" "4" "0000595184" "00000084" "70" "488" "0" "488" "0" "c.488C>G" "r.(?)" "p.(Pro163Arg)" "4" "0000595185" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "" "0000595186" "00000084" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Gln172*)" "4" "0000595187" "00000084" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Gln172*)" "4" "0000595188" "00000084" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Gln172*)" "4" "0000595189" "00000084" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Gln172*)" "4" "0000595190" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "" "0000595191" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "4" "0000595192" "00000084" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "4" "0000595193" "00000084" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "4" "0000595194" "00000084" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "4" "0000595195" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "4" "0000595196" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "4" "0000595197" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "4" "0000595198" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "4" "0000595199" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "4" "0000595200" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "4" "0000595201" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "4" "0000595203" "00000084" "90" "625" "0" "625" "0" "c.625del" "r.(?)" "p.(His209Thrfs*203)" "4" "0000595204" "00000084" "90" "659" "0" "661" "0" "c.659_661delinsTG" "r.(?)" "p.(Cys220Leufs*192)" "4" "0000595205" "00000084" "90" "686" "0" "686" "0" "c.686G>A" "r.(?)" "p.(Cys229Tyr)" "4" "0000595206" "00000084" "90" "693" "0" "694" "0" "c.693_694del" "r.spl?" "p.(Arg231Serfs*10)" "4" "0000595207" "00000084" "90" "693" "0" "694" "0" "c.693_694del" "r.spl?" "p.(Arg231Serfs*10)" "4" "0000595208" "00000084" "90" "693" "0" "694" "0" "c.693_694del" "r.spl?" "p.(Arg231Serfs*10)" "4" "0000595209" "00000084" "90" "693" "0" "694" "0" "c.693_694del" "r.spl?" "p.(Arg231Serfs*10)" "4" "0000595210" "00000084" "90" "693" "0" "694" "0" "c.693_694del" "r.spl?" "p.(Arg231Serfs*10)" "4" "0000595211" "00000084" "90" "693" "0" "694" "0" "c.693_694del" "r.spl?" "p.(Arg231Serfs*10)" "4" "0000595212" "00000084" "90" "693" "0" "694" "0" "c.693_694del" "r.spl?" "p.(Arg231Serfs*10)" "4" "0000595213" "00000084" "70" "700" "0" "700" "0" "c.700T>G" "r.(?)" "p.(Cys234Gly)" "5" "0000595214" "00000084" "90" "701" "0" "701" "0" "c.701del" "r.(?)" "p.(Cys234Serfs*178)" "5" "0000595215" "00000084" "90" "701" "0" "701" "0" "c.701del" "r.(?)" "p.(Cys234Serfs*178)" "5" "0000595216" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "5" "0000595217" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "5" "0000595218" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "5" "0000595219" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "5" "0000595220" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "5" "0000595221" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "5" "0000595222" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "5" "0000595225" "00000084" "50" "754" "0" "754" "0" "c.754A>G" "r.(?)" "p.(Arg252Gly)" "5" "0000595226" "00000084" "90" "755" "2" "755" "2" "c.755+2T>A" "r.spl" "p.(?)" "5i" "0000595227" "00000084" "90" "755" "2" "755" "2" "c.755+2T>A" "r.spl" "p.(?)" "5i" "0000595228" "00000084" "90" "755" "2" "755" "2" "c.755+2T>A" "r.spl" "p.(?)" "5i" "0000595229" "00000084" "90" "755" "1" "755" "2" "c.755+1_755+2dup" "r.695_755del" "p.Ala232Glyfs*160" "5i" "0000595230" "00000084" "90" "755" "1" "755" "2" "c.755+1_755+2dup" "r.695_755del" "p.Ala232Glyfs*160" "5i" "0000595231" "00000084" "90" "765" "0" "765" "0" "c.765C>G" "r.(?)" "p.(Tyr255*)" "6" "0000595232" "00000084" "90" "765" "0" "765" "0" "c.765C>G" "r.(?)" "p.(Tyr255*)" "6" "0000595234" "00000084" "90" "794" "0" "794" "0" "c.794G>T" "r.(?)" "p.(Cys265Phe)" "6" "0000595235" "00000084" "90" "794" "0" "794" "0" "c.794G>T" "r.(?)" "p.(Cys265Phe)" "6" "0000595236" "00000084" "90" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Gly270*)" "6" "0000595238" "00000084" "90" "838" "0" "839" "0" "c.838_839dup" "r.(?)" "p.(Trp280Cysfs*133)" "6" "0000595239" "00000084" "90" "838" "0" "839" "0" "c.838_839dup" "r.(?)" "p.(Trp280Cysfs*133)" "6" "0000595240" "00000084" "90" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Trp280*)" "6" "0000595241" "00000084" "90" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Gln291*)" "6" "0000595242" "00000084" "90" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Gln291*)" "6" "0000595243" "00000084" "90" "886" "1" "886" "1" "c.886+1G>T" "r.756_886del" "p.Cys253Serfs*17" "6i" "0000595244" "00000084" "90" "886" "1" "886" "1" "c.886+1G>T" "r.756_886del" "p.Cys253Serfs*17" "6i" "0000595245" "00000084" "90" "886" "1" "886" "1" "c.886+1G>T" "r.756_886del" "p.Cys253Serfs*17" "6i" "0000595246" "00000084" "90" "886" "1" "886" "1" "c.886+1G>T" "r.756_886del" "p.Cys253Serfs*17" "6i" "0000595247" "00000084" "90" "886" "2" "886" "2" "c.886+2T>G" "r.spl" "p.?" "6i" "0000595248" "00000084" "90" "886" "2" "886" "2" "c.886+2T>G" "r.spl" "p.?" "6i" "0000595249" "00000084" "90" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr302Aspfs*12)" "7" "0000595251" "00000084" "90" "918" "0" "918" "0" "c.918T>A" "r.(?)" "p.(Cys306*)" "7" "0000595253" "00000084" "90" "1019" "0" "1022" "0" "c.1019_1022del" "r.(?)" "p.(Cys340Serfs*71)" "8" "0000595254" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000595255" "00000084" "90" "1057" "0" "1057" "0" "c.1057G>T" "r.(?)" "p.(Glu353*)" "8" "0000595256" "00000084" "90" "1057" "0" "1057" "0" "c.1057G>T" "r.(?)" "p.(Glu353*)" "8" "0000595257" "00000084" "90" "1057" "0" "1057" "0" "c.1057G>T" "r.(?)" "p.(Glu353*)" "8" "0000595258" "00000084" "90" "1057" "0" "1057" "0" "c.1057G>T" "r.(?)" "p.(Glu353*)" "8" "0000595259" "00000084" "90" "1205" "0" "1205" "0" "c.1205dup" "r.(?)" "p.(Gln403Thrfs*13)" "" "0000595260" "00000084" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Cys362*)" "8" "0000595262" "00000084" "90" "1139" "0" "1139" "0" "c.1139del" "r.(?)" "p.(Pro380Leufs*32)" "9" "0000595263" "00000084" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "9" "0000595264" "00000084" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "9" "0000595265" "00000084" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "9" "0000595266" "00000084" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "9" "0000595267" "00000084" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "9" "0000595268" "00000084" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "9" "0000595269" "00000084" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "9" "0000595270" "00000084" "90" "1189" "0" "1189" "0" "c.1189A>T" "r.(?)" "p.(Lys397*)" "9" "0000595271" "00000084" "90" "1205" "0" "1205" "0" "c.1205dup" "r.(?)" "p.(Gln403Thrfs*13)" "" "0000595273" "00000084" "90" "1205" "0" "1205" "0" "c.1205del" "r.(?)" "p.(Pro402Hisfs*10)" "9" "0000595274" "00000084" "90" "1205" "0" "1205" "0" "c.1205dup" "r.(?)" "p.(Gln403Thrfs*13)" "9" "0000595275" "00000084" "90" "1205" "0" "1205" "0" "c.1205dup" "r.(?)" "p.(Gln403Thrfs*13)" "9" "0000595276" "00000084" "90" "1205" "0" "1205" "0" "c.1205dup" "r.(?)" "p.(Gln403Thrfs*13)" "9" "0000595277" "00000084" "90" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Gln403*)" "9" "0000595278" "00000084" "90" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Gln403*)" "9" "0000595279" "00000084" "90" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Gln403*)" "9" "0000595280" "00000084" "90" "1222" "0" "1222" "0" "c.1222dup" "r.(?)" "p.(Thr408Asnfs*8)" "9" "0000595282" "00000084" "90" "1242" "0" "1242" "0" "c.1242del" "r.(?)" "p.(Asn414Lysfs*9)" "10" "0000595283" "00000084" "90" "1242" "0" "1242" "0" "c.1242del" "r.(?)" "p.(Asn414Lysfs*9)" "10" "0000595284" "00000084" "90" "1264" "0" "1265" "0" "c.1264_1265del" "r.(?)" "p.(Val422Lysfs*6)" "10" "0000595285" "00000084" "90" "1296" "0" "1299" "0" "c.1296_1299dup" "r.(?)" "p.(Tyr434Glnfs*16)" "10" "0000595286" "00000084" "90" "1485" "0" "1486" "0" "c.1485_1486del" "r.(?)" "p.(Cys496Phefs*9)" "" "0000595287" "00000084" "90" "1305" "0" "1305" "0" "c.1305C>G" "r.(?)" "p.(Tyr435*)" "10" "0000595288" "00000084" "90" "1305" "0" "1305" "0" "c.1305C>G" "r.(?)" "p.(Tyr435*)" "10" "0000595289" "00000084" "90" "1305" "0" "1305" "0" "c.1305C>G" "r.(?)" "p.(Tyr435*)" "10" "0000595290" "00000084" "90" "1305" "0" "1305" "0" "c.1305C>G" "r.(?)" "p.(Tyr435*)" "10" "0000595291" "00000084" "90" "1305" "0" "1305" "0" "c.1305C>G" "r.(?)" "p.(Tyr435*)" "10" "0000595292" "00000084" "90" "1305" "0" "1305" "0" "c.1305C>G" "r.(?)" "p.(Tyr435*)" "10" "0000595294" "00000084" "70" "1313" "0" "1313" "0" "c.1313G>C" "r.(?)" "p.(Cys438Ser)" "10" "0000595296" "00000084" "90" "1326" "0" "1326" "0" "c.1326G>A" "r.(?)" "p.(Trp442*)" "10" "0000595297" "00000084" "90" "1326" "0" "1326" "0" "c.1326G>A" "r.(?)" "p.(Trp442*)" "10" "0000595298" "00000084" "90" "1349" "-12" "1349" "-12" "c.1349-12T>G" "r.1349_1395del" "p.Asn450Argfs*4" "10i" "0000595299" "00000084" "90" "1349" "-12" "1349" "-12" "c.1349-12T>G" "r.1349_1395del" "p.Asn450Argfs*4" "10i" "0000595300" "00000084" "90" "1349" "-1" "1349" "-1" "c.1349-1G>C" "r.spl" "p.(?)" "10i" "0000595301" "00000084" "90" "1349" "-1" "1349" "-1" "c.1349-1G>C" "r.spl" "p.(Cys454*)" "10i" "0000595302" "00000084" "90" "1362" "0" "1362" "0" "c.1362C>A" "r.(?)" "p.(Cys454*)" "11" "0000595303" "00000084" "90" "1393" "0" "1395" "2" "c.1393_1395+2del" "r.spl" "p.?" "11" "0000595304" "00000084" "90" "1395" "1" "1395" "1" "c.1395+1G>T" "r.spl" "p.?" "11i" "0000595305" "00000084" "90" "1395" "1" "1395" "1" "c.1395+1G>T" "r.spl" "p.?" "11i" "0000595306" "00000084" "90" "1395" "1" "1395" "1" "c.1395+1G>A" "r.spl" "p.(Ile474Asnfs*12)" "11i" "0000595307" "00000084" "90" "1419" "0" "1419" "0" "c.1419dup" "r.(?)" "p.(Ile474Tyrfs*12)" "12" "0000595308" "00000084" "90" "1419" "0" "1419" "0" "c.1419dup" "r.(?)" "p.(Ile474Tyrfs*12)" "12" "0000595309" "00000084" "90" "1419" "0" "1419" "0" "c.1419dup" "r.(?)" "p.(Ile474Tyrfs*12)" "12" "0000595310" "00000084" "90" "1433" "0" "1444" "0" "c.1433_1444delinsC" "r.(?)" "p.(Gly478Alafs*4)" "12" "0000595311" "00000084" "90" "1452" "0" "1453" "0" "c.1452_1453del" "r.(?)" "p.(Cys484*)" "12" "0000595312" "00000084" "90" "1452" "0" "1453" "0" "c.1452_1453del" "r.(?)" "p.(Cys484*)" "12" "0000595313" "00000084" "90" "1452" "0" "1453" "0" "c.1452_1453del" "r.(?)" "p.(Cys484*)" "12" "0000595314" "00000084" "90" "1454" "0" "1454" "0" "c.1454delinsTGT" "r.(?)" "p.(Glu485Valfs*2)" "12" "0000595315" "00000084" "90" "1456" "0" "1456" "0" "c.1456dup" "r.(?)" "p.(Arg486Lysfs*5)" "12" "0000595317" "00000084" "90" "1461" "0" "1462" "0" "c.1461_1462del" "r.(?)" "p.(Ile488Argfs*2)" "12" "0000595318" "00000084" "90" "1485" "0" "1486" "0" "c.1485_1486del" "r.(?)" "p.(Cys496Phefs*9)" "12" "0000595319" "00000084" "90" "1485" "0" "1486" "0" "c.1485_1486del" "r.(?)" "p.(Cys496Phefs*9)" "12" "0000595320" "00000084" "90" "1485" "0" "1486" "0" "c.1485_1486del" "r.(?)" "p.(Cys496Phefs*9)" "12" "0000595321" "00000084" "90" "1491" "0" "1491" "0" "c.1491del" "r.(?)" "p.(Asn498Metfs*66)" "12" "0000595323" "00000084" "90" "1499" "0" "1499" "0" "c.1499del" "r.(?)" "p.(Gly500Valfs*64)" "12" "0000595324" "00000084" "90" "2458" "2" "2458" "5" "c.2458+2_2458+5del" "r.spl" "p.?" "" "0000595325" "00000084" "90" "1526" "0" "1526" "0" "c.1526del" "r.(?)" "p.(Phe509Serfs*55)" "12" "0000595326" "00000084" "90" "1526" "0" "1526" "0" "c.1526del" "r.(?)" "p.(Phe509Serfs*55)" "12" "0000595328" "00000084" "90" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Gln510*)" "12" "0000595329" "00000084" "90" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Gln510*)" "12" "0000595330" "00000084" "90" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Gln510*)" "12" "0000595331" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900*)" "" "0000595333" "00000084" "90" "1563" "0" "1564" "0" "c.1563_1564del" "r.(?)" "p.(Cys522Serfs*8)" "12" "0000595334" "00000084" "90" "2916" "1" "2916" "1" "c.2916+1G>C" "r.spl" "p.?" "" "0000595335" "00000084" "90" "2917" "-1" "2917" "-1" "c.2917-1G>C" "r.spl" "p.?" "" "0000595336" "00000084" "90" "1656" "0" "1656" "0" "c.1656del" "r.(?)" "p.(Glu553Argfs*11)" "13" "0000595337" "00000084" "90" "1656" "0" "1656" "0" "c.1656del" "r.(?)" "p.(Glu553Argfs*11)" "13" "0000595338" "00000084" "90" "1656" "0" "1656" "0" "c.1656del" "r.(?)" "p.(Glu553Argfs*11)" "13" "0000595339" "00000084" "90" "3164" "0" "3167" "0" "c.3164_3167del" "r.(?)" "p.(Val1055Glufs*7)" "" "0000595341" "00000084" "90" "1678" "0" "1678" "0" "c.1678del" "r.(?)" "p.(Cys560Alafs*4)" "13" "0000595342" "00000084" "90" "1682" "0" "1682" "0" "c.1682C>G" "r.(?)" "p.(Ser561*)" "13" "0000595343" "00000084" "90" "755" "1" "755" "1" "c.755+1G>A" "r.spl" "p.?" "5i" "0000595345" "00000084" "90" "1713" "0" "1713" "0" "c.1713dup" "r.(?)" "p.(Cys572Leufs*2)" "13" "0000595347" "00000084" "90" "1720" "0" "1720" "0" "c.1720G>C" "r.1570_1720del" "p.Leu524*" "13" "0000595348" "00000084" "90" "1720" "2" "1720" "2" "c.1720+2T>C" "r.spl" "p.(Ala583Leufs*160)" "13i" "0000595349" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000595350" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000595351" "00000084" "90" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Gln608*)" "14" "0000595352" "00000084" "90" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Gln608*)" "14" "0000595353" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000595354" "00000084" "90" "1859" "0" "1859" "0" "c.1859dup" "r.(?)" "p.(Phe621Leufs*8)" "14" "0000595355" "00000084" "90" "1875" "0" "1875" "0" "c.1875C>G" "r.(?)" "p.(Tyr625*)" "14" "0000595356" "00000084" "90" "1312" "0" "1312" "0" "c.1312T>A" "r.(?)" "p.(Cys438Ser)" "" "0000595357" "00000084" "90" "1395" "3" "1395" "3" "c.1395+3A>G" "r.spl?" "p.?" "" "0000595358" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000595359" "00000084" "90" "1977" "0" "1977" "0" "c.1977G>A" "r.(?)" "p.(Trp659*)" "15" "0000595360" "00000084" "90" "1984" "0" "1984" "0" "c.1984del" "r.(?)" "p.(Ala662Profs*81)" "15" "0000595361" "00000084" "90" "1984" "0" "1984" "0" "c.1984del" "r.(?)" "p.(Ala662Profs*81)" "15" "0000595362" "00000084" "90" "1984" "0" "1984" "0" "c.1984del" "r.(?)" "p.(Ala662Profs*81)" "15" "0000595363" "00000084" "90" "1992" "0" "1992" "0" "c.1992T>A" "r.(?)" "p.(Cys664*)" "15" "0000595364" "00000084" "90" "1992" "0" "1992" "0" "c.1992T>A" "r.(?)" "p.(Cys664*)" "15" "0000595365" "00000084" "90" "2028" "0" "2028" "0" "c.2028C>A" "r.(?)" "p.(Cys676*)" "16" "0000595366" "00000084" "90" "2039" "0" "2039" "0" "c.2039del" "r.(?)" "p.(Gly680Alafs*63)" "16" "0000595367" "00000084" "90" "2044" "0" "2044" "0" "c.2044dup" "r.(?)" "p.(Cys682Leufs*7)" "16" "0000595368" "00000084" "90" "2059" "0" "2060" "0" "c.2059_2060insT" "r.(?)" "p.(Asn687Ilefs*2)" "16" "0000595370" "00000084" "90" "2078" "0" "2079" "0" "c.2078_2079del" "r.(?)" "p.(Cys693*)" "16" "0000595371" "00000084" "90" "2084" "0" "2084" "0" "c.2084del" "r.(?)" "p.(Asn695Metfs*48)" "16" "0000595373" "00000084" "90" "2096" "0" "2100" "0" "c.2096_2100del" "r.(?)" "p.(Gly699Aspfs*6)" "16" "0000595374" "00000084" "90" "2096" "0" "2100" "0" "c.2096_2100del" "r.(?)" "p.(Gly699Aspfs*6)" "16" "0000595375" "00000084" "90" "2096" "0" "2100" "0" "c.2096_2100del" "r.(?)" "p.(Gly699Aspfs*6)" "16" "0000595376" "00000084" "90" "2096" "0" "2100" "0" "c.2096_2100del" "r.(?)" "p.(Gly699Aspfs*6)" "16" "0000595377" "00000084" "90" "2118" "0" "2119" "0" "c.2118_2119del" "r.(?)" "p.(Asp706Glufs*4)" "17" "0000595378" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000595380" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000595381" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000595382" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000595383" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000595384" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000595385" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000595386" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000595387" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000595388" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000595389" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000595390" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000595391" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000595392" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "" "0000595393" "00000084" "90" "2141" "0" "2141" "0" "c.2141G>A" "r.(?)" "p.(Cys714Tyr)" "17" "0000595394" "00000084" "90" "2141" "0" "2141" "0" "c.2141G>A" "r.(?)" "p.(Cys714Tyr)" "17" "0000595395" "00000084" "90" "2173" "0" "2173" "0" "c.2173dup" "r.(?)" "p.(Asp725Glyfs*4)" "17" "0000595396" "00000084" "90" "2173" "0" "2173" "0" "c.2173del" "r.(?)" "p.(Asp725Metfs*18)" "17" "0000595397" "00000084" "90" "2204" "0" "2204" "0" "c.2204G>A" "r.(?)" "p.(Trp735*)" "17" "0000595398" "00000084" "90" "2204" "0" "2204" "0" "c.2204G>A" "r.(?)" "p.(Trp735*)" "17" "0000595399" "00000084" "90" "2225" "0" "2226" "0" "c.2225_2226del" "r.(?)" "p.(Ile742Serfs*5)" "17" "0000595400" "00000084" "90" "2225" "0" "2226" "0" "c.2225_2226del" "r.(?)" "p.(Ile742Serfs*5)" "17" "0000595401" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595402" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595403" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595404" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595405" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595406" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595407" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595408" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595409" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595410" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595411" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595412" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595413" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595414" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595415" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595416" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000595417" "00000084" "90" "2269" "0" "2270" "0" "c.2269_2270dup" "r.(?)" "p.(Thr758Alafs*63)" "18" "0000595418" "00000084" "90" "2269" "0" "2270" "0" "c.2269_2270del" "r.(?)" "p.(Gly757Hisfs*28)" "18" "0000595419" "00000084" "70" "2276" "0" "2276" "0" "c.2276G>T" "r.(?)" "p.(Cys759Phe)" "18" "0000595420" "00000084" "90" "2276" "0" "2276" "0" "c.2276delinsCA" "r.(?)" "p.(Cys759Serfs*27)" "18" "0000595421" "00000084" "90" "2276" "0" "2276" "0" "c.2276delinsCA" "r.(?)" "p.(Cys759Serfs*27)" "18" "0000595422" "00000084" "90" "2279" "0" "2280" "0" "c.2279_2280del" "r.(?)" "p.(Val760Glyfs*25)" "18" "0000595423" "00000084" "90" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Cys768*)" "18" "0000595424" "00000084" "90" "2345" "-2" "2345" "-2" "c.2345-2A>G" "r.spl" "p.(?)" "18i" "0000595425" "00000084" "90" "2345" "-2" "2345" "-2" "c.2345-2A>G" "r.spl" "p.(?)" "18i" "0000595426" "00000084" "90" "2372" "1" "2372" "1" "c.2372+1G>T" "r.spl" "p.(?)" "19i" "0000595427" "00000084" "90" "2372" "1" "2372" "1" "c.2372+1G>T" "r.spl" "p.(Cys806*)" "19i" "0000595428" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "" "0000595429" "00000084" "90" "2439" "0" "2442" "0" "c.2439_2442dup" "r.(?)" "p.(Pro815Trpfs*10)" "20" "0000595430" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "" "0000595431" "00000084" "90" "2455" "0" "2455" "0" "c.2455A>G" "r.spl" "p.?" "20" "0000595432" "00000084" "90" "2455" "0" "2455" "0" "c.2455A>G" "r.spl" "p.?" "20" "0000595433" "00000084" "90" "2458" "1" "2458" "1" "c.2458+1del" "r.spl" "p.(?)" "20i" "0000595434" "00000084" "90" "2458" "1" "2458" "1" "c.2458+1G>T" "r.spl" "p.(?)" "20i" "0000595435" "00000084" "70" "2458" "5" "2458" "5" "c.2458+5G>A" "r.spl?" "p.?" "20i" "0000595436" "00000084" "90" "2459" "-1" "2459" "-1" "c.2459-1G>A" "r.spl" "p.(?)" "20i" "0000595437" "00000084" "90" "852" "0" "853" "0" "c.852_853del" "r.(?)" "p.(Cys284*)" "" "0000595438" "00000084" "90" "2473" "0" "2473" "0" "c.2473C>T" "r.(?)" "p.(Gln825*)" "21" "0000595439" "00000084" "90" "2487" "0" "2487" "0" "c.2487T>A" "r.(?)" "p.(Cys829*)" "21" "0000595440" "00000084" "90" "2505" "0" "2521" "0" "c.2505_2521del" "r.(?)" "p.(Cys835Trpfs*38)" "21" "0000595442" "00000084" "90" "2572" "1" "2572" "1" "c.2572+1G>A" "r.spl" "p.(?)" "21i" "0000595443" "00000084" "90" "2572" "2" "2572" "2" "c.2572+2T>A" "r.2459_2572del" "p.Asn820_Val858delinsIle" "21i" "0000595445" "00000084" "90" "2587" "0" "2587" "0" "c.2587dup" "r.(?)" "p.(Cys863Leufs*16)" "22" "0000595446" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "" "0000595447" "00000084" "90" "2601" "0" "2601" "0" "c.2601dup" "r.(?)" "p.(Ser868Glufs*11)" "22" "0000595448" "00000084" "90" "2601" "0" "2601" "0" "c.2601dup" "r.(?)" "p.(Ser868Glufs*11)" "22" "0000595449" "00000084" "90" "2606" "0" "2607" "0" "c.2606_2607del" "r.(?)" "p.(Val869Aspfs*9)" "22" "0000595450" "00000084" "90" "2611" "0" "2612" "0" "c.2611_2612delinsTG" "r.(?)" "p.(Pro871*)" "22" "0000595451" "00000084" "90" "2639" "0" "2640" "0" "c.2639_2640del" "r.(?)" "p.(Cys880*)" "22" "0000595452" "00000084" "90" "2662" "0" "2666" "0" "c.2662_2666delinsACCTTTGCCTGTAATACATTTGATCGCC" "r.(?)" "p.(Gly888Thrfs*65)" "22" "0000595455" "00000084" "50" "2666" "0" "2666" "0" "c.2666G>A" "r.(?)" "p.(Arg889Gln)" "22" "0000595456" "00000084" "50" "2666" "0" "2666" "0" "c.2666G>A" "r.(?)" "p.(Arg889Gln)" "22" "0000595457" "00000084" "90" "2678" "0" "2678" "0" "c.2678C>A" "r.(?)" "p.(Ser893*)" "22" "0000595460" "00000084" "90" "2682" "2" "2682" "2" "c.2682+2T>C" "r.spl" "p.(Trp896*)" "22i" "0000595461" "00000084" "90" "2688" "0" "2688" "0" "c.2688G>A" "r.(?)" "p.(Trp896*)" "23" "0000595462" "00000084" "90" "2688" "0" "2688" "0" "c.2688G>A" "r.(?)" "p.(Trp896*)" "23" "0000595463" "00000084" "90" "2691" "0" "2691" "0" "c.2691T>A" "r.(?)" "p.(Cys897*)" "23" "0000595464" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900*)" "23" "0000595465" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900*)" "23" "0000595466" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900*)" "23" "0000595467" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900*)" "23" "0000595468" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900*)" "23" "0000595469" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "4" "0000595470" "00000084" "70" "2705" "0" "2705" "0" "c.2705G>C" "r.(?)" "p.(Cys902Ser)" "23" "0000595471" "00000084" "70" "2705" "0" "2705" "0" "c.2705G>C" "r.(?)" "p.(Cys902Ser)" "23" "0000595472" "00000084" "90" "2731" "0" "2731" "0" "c.2731dup" "r.(?)" "p.(Cys911Leufs*41)" "23" "0000595474" "00000084" "90" "2732" "0" "2732" "0" "c.2732G>A" "r.(?)" "p.(Cys911Tyr)" "23" "0000595475" "00000084" "90" "2732" "0" "2732" "0" "c.2732G>A" "r.(?)" "p.(Cys911Tyr)" "23" "0000595476" "00000084" "90" "2766" "0" "2773" "0" "c.2766_2773delinsTGCC" "r.(?)" "p.(Asp923Alafs*21)" "23" "0000595477" "00000084" "90" "2770" "0" "2770" "0" "c.2770C>T" "r.(?)" "p.(Gln924*)" "23" "0000595478" "00000084" "90" "2770" "0" "2770" "0" "c.2770C>T" "r.(?)" "p.(Gln924*)" "23" "0000595479" "00000084" "90" "2874" "0" "2875" "0" "c.2874_2875del" "r.(?)" "p.(Ala959Glufs*7)" "" "0000595480" "00000084" "90" "2774" "0" "2788" "0" "c.2774_2788delinsCCAGGGCA" "r.(?)" "p.(Cys925Serfs*18)" "23" "0000595483" "00000084" "90" "2820" "0" "2826" "0" "c.2820_2826del" "r.(?)" "p.(Leu941Argfs*2)" "23" "0000595484" "00000084" "90" "2821" "0" "2831" "0" "c.2821_2831del" "r.(?)" "p.(Leu941Glufs*7)" "23" "0000595488" "00000084" "90" "2874" "0" "2875" "0" "c.2874_2875del" "r.(?)" "p.(Ala959Glufs*7)" "23" "0000595489" "00000084" "90" "2874" "0" "2875" "0" "c.2874_2875del" "r.(?)" "p.(Ala959Glufs*7)" "23" "0000595490" "00000084" "90" "2874" "0" "2875" "0" "c.2874_2875del" "r.(?)" "p.(Ala959Glufs*7)" "23" "0000595491" "00000084" "90" "2874" "0" "2875" "0" "c.2874_2875del" "r.(?)" "p.(Ala959Glufs*7)" "23" "0000595492" "00000084" "90" "2874" "0" "2875" "0" "c.2874_2875del" "r.(?)" "p.(Ala959Glufs*7)" "23" "0000595493" "00000084" "90" "2898" "0" "2898" "0" "c.2898dup" "r.(?)" "p.(Lys967Glnfs*16)" "23" "0000595494" "00000084" "90" "2916" "1" "2916" "1" "c.2916+1G>A" "r.2683_2916del" "p.Val895_Pro972del" "23i" "0000595495" "00000084" "90" "2916" "1" "2916" "1" "c.2916+1G>C" "r.spl" "p.?" "23i" "0000595496" "00000084" "90" "2916" "1" "2916" "1" "c.2916+1G>C" "r.spl" "p.?" "23i" "0000595497" "00000084" "90" "2918" "0" "2918" "0" "c.2918del" "r.(?)" "p.(Gly973Valfs*11)" "24" "0000595499" "00000084" "90" "2923" "0" "2923" "0" "c.2923dup" "r.(?)" "p.(Thr975Asnfs*8)" "24" "0000595500" "00000084" "90" "2923" "0" "2923" "0" "c.2923dup" "r.(?)" "p.(Thr975Asnfs*8)" "24" "0000595501" "00000084" "90" "2927" "0" "2927" "0" "c.2927dup" "r.(?)" "p.(Glu977Glyfs*6)" "24" "0000595503" "00000084" "90" "2956" "0" "2957" "0" "c.2956_2957dup" "r.(?)" "p.(Leu986Phefs*2)" "24" "0000595504" "00000084" "90" "3000" "0" "3001" "0" "c.3000_3001ins(19)" "r.?" "p.?" "" "0000595506" "00000084" "90" "2982" "0" "3000" "0" "c.2982_3000dup" "r.(?)" "p.(Ala1001*)" "24" "0000595507" "00000084" "90" "2990" "0" "2990" "0" "c.2990C>A" "r.(?)" "p.(Ser997*)" "24" "0000595508" "00000084" "90" "3003" "0" "3008" "0" "c.3003_3008delinsGC" "r.(?)" "p.(Cys1002Argfs*33)" "24" "0000595509" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "" "0000595510" "00000084" "70" "3004" "0" "3004" "0" "c.3004T>C" "r.(?)" "p.(Cys1002Arg)" "24" "0000595511" "00000084" "90" "3011" "0" "3023" "0" "c.3011_3023dup" "r.(?)" "p.(Asn1009Phefs*7)" "24" "0000595512" "00000084" "90" "388" "-5" "388" "-5" "c.388-5T>A" "r.spl?" "p.?" "" "0000595513" "00000084" "90" "3048" "1" "3048" "1" "c.3048+1G>T" "r.spl" "p.?" "24i" "0000595514" "00000084" "90" "3218" "0" "3221" "0" "c.3218_3221dup" "r.(?)" "p.(Ser1075Glufs*35)" "25" "0000595516" "00000084" "90" "3140" "0" "3140" "0" "c.3140C>A" "r.(?)" "p.(Ser1047*)" "25" "0000595517" "00000084" "90" "3160" "0" "3160" "0" "c.3160G>T" "r.(?)" "p.(Glu1054*)" "25" "0000595520" "00000084" "90" "3164" "0" "3167" "0" "c.3164_3167del" "r.(?)" "p.(Val1055Glufs*7)" "25" "0000595521" "00000084" "90" "3164" "0" "3167" "0" "c.3164_3167del" "r.(?)" "p.(Val1055Glufs*7)" "25" "0000595522" "00000084" "90" "3164" "0" "3167" "0" "c.3164_3167del" "r.(?)" "p.(Val1055Glufs*7)" "25" "0000595523" "00000084" "90" "3172" "0" "3172" "0" "c.3172C>T" "r.(?)" "p.(Gln1058*)" "25" "0000595524" "00000084" "90" "3172" "0" "3172" "0" "c.3172C>T" "r.(?)" "p.(Gln1058*)" "25" "0000595526" "00000084" "90" "3200" "-2" "3200" "-2" "c.3200-2A>G" "r.spl" "p.?" "25i" "0000595528" "00000084" "90" "3218" "0" "3221" "0" "c.3218_3221dup" "r.(?)" "p.(Ser1075Glufs*35)" "26" "0000595529" "00000084" "90" "3243" "0" "3243" "0" "c.3243dup" "r.(?)" "p.(Ile1082Aspfs*27)" "26" "0000595530" "00000084" "90" "-119" "0" "82" "-38" "c.-119_82-38del" "r.0?" "p.0?" "1_1i" "0000595531" "00000084" "90" "-516" "0" "387" "1662" "c.516_387+1662{0}" "r.0?" "p.0?" "_1_2i" "0000595532" "00000084" "90" "-516" "0" "388" "0" "c.-516_(387+1_388-1){0}" "r.0?" "p.0?" "_1_2i" "0000595533" "00000084" "90" "-516" "0" "388" "0" "c.-516_(387+1_388-1){0}" "r.0?" "p.0?" "_1_2i" "0000595534" "00000084" "90" "-516" "0" "2917" "0" "c.-516_(2916+1_2917-1){0}" "r.0?" "p.0?" "_1_23i" "0000595535" "00000084" "90" "388" "-1" "439" "1" "c.(387+1_388-1)_(439+1_440-1)del" "r.388_439del" "p.?" "2i_3i" "0000595536" "00000084" "90" "388" "-1" "439" "1" "c.(387+1_388-1)_(439+1_440-1)del" "r.?" "p.?" "2i_3i" "0000595537" "00000084" "90" "388" "0" "5471" "0" "c.(387+1_388-1)_*1814{0}" "r.?" "p.?" "2i_26_" "0000595538" "00000084" "90" "1121" "-1" "1569" "1" "c.(1120+1_1121-1)_(1569+1_1570-1)del" "r.?" "p.?" "8i_12i" "0000595539" "00000084" "90" "1235" "0" "5471" "0" "c.(1234+1_1235-1)_*1814{0}" "r.?" "p.?" "9i_26_" "0000595540" "00000084" "90" "2573" "-1" "3048" "1" "c.(2572+1_2573-1)_(3048+1_3049-1)del" "r.?" "p.?" "21i_24i" "0000595541" "00000084" "90" "-4801" "0" "221729" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595542" "00000084" "90" "" "0" "" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595543" "00000084" "90" "-63699" "0" "756420" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595544" "00000084" "90" "-730941" "0" "99851" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595545" "00000084" "90" "-36846" "0" "1112881" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595546" "00000084" "90" "-373027" "0" "1150202" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595547" "00000084" "90" "-2091876" "0" "315752" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595548" "00000084" "90" "-1626348" "0" "1171335" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595549" "00000084" "90" "-836111" "0" "1976284" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595550" "00000084" "90" "-1560585" "0" "1372696" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595551" "00000084" "90" "-1190028" "0" "1810797" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595552" "00000084" "90" "-3006215" "0" "243037" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595553" "00000084" "90" "-1712172" "0" "2102366" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595554" "00000084" "90" "-614651" "0" "3240188" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595555" "00000084" "90" "-1390719" "0" "2579673" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595556" "00000084" "90" "-3466265" "0" "670929" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595557" "00000084" "90" "-2541390" "0" "1867493" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595558" "00000084" "90" "-2063059" "0" "3569450" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595559" "00000084" "90" "-4357501" "0" "1584568" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595560" "00000084" "90" "-736241" "0" "6636176" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595561" "00000084" "90" "-3360098" "0" "4914779" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595562" "00000084" "90" "-8388608" "0" "938390" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595564" "00000084" "90" "0" "0" "0" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595565" "00000084" "90" "-516" "0" "5471" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595566" "00000084" "90" "-516" "0" "5471" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595567" "00000084" "90" "-516" "0" "5471" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595568" "00000084" "90" "-516" "0" "5471" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000595569" "00000084" "90" "-516" "0" "3200" "0" "c.-516_(3199+1_3200-1){2}" "r.?" "p.?" "_1_25i" "0000595570" "00000084" "90" "388" "-1" "694" "1" "c.(387+1_388-1)_(694+1_695-1)dup" "r.?" "p.?" "2i_4i" "0000595571" "00000084" "90" "0" "0" "0" "0" "c.-518_(439+768_?){1}" "r.?" "p.?" "_1_3i" "0000595572" "00000084" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000595573" "00000084" "50" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "" "0000617978" "00000084" "50" "3553" "0" "3553" "0" "c.3553C>T" "r.(?)" "p.(Pro1185Ser)" "" "0000617979" "00000084" "30" "3333" "0" "3333" "0" "c.3333C>T" "r.(?)" "p.(Thr1111=)" "" "0000617980" "00000084" "30" "3329" "0" "3329" "0" "c.3329A>G" "r.(?)" "p.(Asn1110Ser)" "" "0000617981" "00000084" "30" "2917" "-32" "2917" "-32" "c.2917-32dup" "r.(=)" "p.(=)" "" "0000617982" "00000084" "10" "2766" "0" "2766" "0" "c.2766C>T" "r.(?)" "p.(Asp922=)" "" "0000617983" "00000084" "10" "2458" "28" "2458" "28" "c.2458+28C>T" "r.(=)" "p.(=)" "" "0000617984" "00000084" "10" "2301" "0" "2301" "0" "c.2301G>A" "r.(?)" "p.(Thr767=)" "" "0000617985" "00000084" "30" "2073" "0" "2073" "0" "c.2073T>C" "r.(?)" "p.(Cys691=)" "" "0000617986" "00000084" "30" "1396" "-19" "1396" "-18" "c.1396-19_1396-18dup" "r.(=)" "p.(=)" "" "0000617987" "00000084" "30" "1349" "-3" "1349" "-3" "c.1349-3dup" "r.spl?" "p.?" "" "0000617988" "00000084" "30" "1161" "0" "1161" "0" "c.1161C>A" "r.(?)" "p.(Gly387=)" "" "0000617989" "00000084" "50" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ser372Phe)" "" "0000617990" "00000084" "30" "894" "0" "894" "0" "c.894T>C" "r.(?)" "p.(Asn298=)" "" "0000624119" "00000084" "90" "3048" "1" "3048" "1" "c.3048+1G>T" "r.spl?" "p.?" "" "0000624120" "00000084" "70" "488" "0" "488" "0" "c.488C>G" "r.(?)" "p.(Pro163Arg)" "" "0000650723" "00000084" "50" "3280" "0" "3280" "0" "c.3280C>T" "r.(?)" "p.(Arg1094Trp)" "" "0000650724" "00000084" "30" "1655" "0" "1655" "0" "c.1655C>T" "r.(?)" "p.(Pro552Leu)" "" "0000650726" "00000084" "30" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Val399Met)" "" "0000650727" "00000084" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "" "0000658708" "00000084" "30" "3141" "0" "3141" "0" "c.3141G>A" "r.(?)" "p.(Ser1047=)" "" "0000658709" "00000084" "10" "2916" "27" "2916" "27" "c.2916+27del" "r.(=)" "p.(=)" "" "0000658710" "00000084" "30" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937Gln)" "" "0000658711" "00000084" "50" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0000658712" "00000084" "70" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "" "0000658713" "00000084" "30" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Val176Ile)" "" "0000658714" "00000084" "10" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Ser98=)" "" "0000669659" "00000084" "30" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Val399Met)" "" "0000673557" "00000084" "90" "2922" "0" "2922" "0" "c.2922dup" "r.(?)" "p.(Thr975Tyrfs*8)" "" "0000673633" "00000084" "70" "2347" "0" "2347" "0" "c.2347del" "r.(?)" "p.(Thr783Profs*37)" "" "0000673843" "00000084" "90" "532" "0" "532" "0" "c.532del" "r.(?)" "p.(His178Thrfs*8)" "" "0000681555" "00000084" "50" "3281" "0" "3281" "0" "c.3281G>A" "r.(?)" "p.(Arg1094Gln)" "" "0000681556" "00000084" "30" "3001" "0" "3001" "0" "c.3001G>A" "r.(?)" "p.(Ala1001Thr)" "" "0000681557" "00000084" "50" "2200" "0" "2200" "0" "c.2200G>A" "r.(?)" "p.(Gly734Ser)" "" "0000681558" "00000084" "30" "1007" "-16" "1007" "-16" "c.1007-16A>G" "r.(=)" "p.(=)" "" "0000682885" "00000084" "90" "0" "0" "0" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000682886" "00000084" "90" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Pro871Arg)" "22" "0000682887" "00000084" "90" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Val45Leu)" "2" "0000682888" "00000084" "90" "2372" "1" "2372" "1" "c.2372+1G>T" "r.spl" "p.?" "19i" "0000682889" "00000084" "90" "550" "0" "550" "0" "c.550C>G" "r.550c>g" "p.Arg184Gly" "" "0000682890" "00000084" "90" "659" "0" "659" "0" "c.659G>T" "r.659g>u" "p.Cys220Phe" "" "0000682891" "00000084" "90" "851" "0" "851" "0" "c.851G>T" "r.851g>u" "p.Cys284Phe" "" "0000682892" "00000084" "90" "864" "0" "864" "0" "c.864G>C" "r.864g>c" "p.Trp288Cys" "" "0000682893" "00000084" "90" "2218" "0" "2218" "0" "c.2218T>C" "r.2218u>c" "p.Cys740Arg" "" "0000682894" "00000084" "90" "3048" "1" "3048" "1" "c.3048+1G>T" "r.2917_3048del" "p.?" "" "0000682895" "00000084" "90" "142" "0" "142" "0" "c.142G>T" "r.142g>u" "p.Glu48*" "" "0000682896" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl" "p.?" "" "0000682897" "00000084" "90" "765" "0" "765" "0" "c.765C>G" "r.0" "p.0" "" "0000682898" "00000084" "90" "976" "0" "976" "0" "c.976G>T" "r.976g>u" "p.Glu326*" "" "0000682899" "00000084" "90" "1121" "0" "1122" "0" "c.1121_1122insT" "r.1121_1122insu" "p.Ile375Hisfs*2" "" "0000682900" "00000084" "90" "1168" "0" "1168" "0" "c.1168C>T" "r.1168c>u" "p.Gln390*" "" "0000682901" "00000084" "90" "1485" "0" "1486" "0" "c.1485_1486del" "r.1485_1486del" "p.Cys496Phefs*9" "" "0000682902" "00000084" "90" "1713" "0" "1714" "0" "c.1713_1714del" "r.1713_1714del" "p.Cys572*" "" "0000682903" "00000084" "90" "1986" "0" "1986" "0" "c.1986dup" "r.1986dup" "p.Tyr663Leufs*3" "" "0000682904" "00000084" "90" "2073" "0" "2073" "0" "c.2073dup" "r.0" "p.(Asp692*)" "" "0000682905" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.2122_2125del" "p.Gln708Valfs*34" "" "0000682906" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.2122_2125del" "p.Gln708Valfs*34" "" "0000682907" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.2122_2125del" "p.Gln708Valfs*34" "" "0000682908" "00000084" "90" "2458" "2" "2458" "5" "c.2458+2_2458+5del" "r.2373_2458del" "p.Cys791*" "" "0000682909" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.2698c>u" "p.Arg900*" "" "0000682910" "00000084" "90" "2770" "0" "2770" "0" "c.2770C>T" "r.2770c>u" "p.Gln924*" "" "0000682911" "00000084" "90" "2874" "0" "2875" "0" "c.2874_2875del" "r.2874_2875del" "p.Ala959Glufs*7" "" "0000682912" "00000084" "90" "3012" "0" "3016" "0" "c.3012_3016dup" "r.3012_3016dup" "p.Pro1006Leufs*32" "" "0000682913" "00000084" "90" "1199" "0" "2002" "0" "c.1199_2002del" "r.1199_2002del" "p.Cys400_Ile668delinsPhe" "" "0000682914" "00000084" "90" "1205" "0" "1205" "0" "c.1205dup" "r.(?)" "p.(Gln403Thrfs*13)" "" "0000682915" "00000084" "90" "1205" "0" "1205" "0" "c.1205dup" "r.(?)" "p.(Gln403Thrfs*13)" "" "0000682916" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "" "0000682917" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "" "0000682918" "00000084" "90" "1492" "0" "1492" "0" "c.1492A>G" "r.(?)" "p.(Asn498Asp)" "" "0000682919" "00000084" "90" "695" "-2" "695" "-2" "c.695-2A>G" "r.spl" "p.?" "" "0000682920" "00000084" "90" "2607" "0" "2608" "0" "c.2607_2608insT" "r.(?)" "p.(Ile870Tyrfs*9)" "" "0000682921" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900*)" "" "0000682922" "00000084" "90" "3224" "0" "3225" "0" "c.3224_3225del" "r.(?)" "p.(Ser1075Cysfs*33)" "" "0000682923" "00000084" "90" "3224" "0" "3225" "0" "c.3224_3225del" "r.(?)" "p.(Ser1075Cysfs*33)" "" "0000682924" "00000084" "90" "3035" "0" "3036" "0" "c.3035_3036dup" "r.(?)" "p.(His1013Tyrfs*24)" "" "0000682925" "00000084" "90" "" "0" "" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000682926" "00000084" "90" "0" "0" "0" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000682945" "00000084" "90" "82" "-6" "82" "-6" "c.82-6C>A" "r.81_82insgcag" "p.?" "" "0000682946" "00000084" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Trp128*)" "" "0000682947" "00000084" "90" "694" "1" "694" "1" "c.694+1G>C" "r.440_694del" "p.Gln147_Ala232delinsPro" "" "0000682948" "00000084" "90" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Gln291*)" "" "0000682949" "00000084" "90" "1713" "0" "1713" "0" "c.1713dup" "r.(?)" "p.(Cys572Leufs*2)" "" "0000682950" "00000084" "90" "1615" "0" "1615" "0" "c.1615C>T" "r.(?)" "p.(Gln539*)" "" "0000682951" "00000084" "90" "2565" "0" "2565" "0" "c.2565C>A" "r.(?)" "p.(Cys855*)" "" "0000682952" "00000084" "10" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(=)" "" "0000682953" "00000084" "10" "388" "-149" "388" "-149" "c.388-149C>T" "r.(?)" "p.(=)" "" "0000682954" "00000084" "10" "440" "-15" "440" "-15" "c.440-15T>C" "r.(?)" "p.(=)" "" "0000682955" "00000084" "10" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(=)" "" "0000682956" "00000084" "10" "744" "0" "744" "0" "c.744A>G" "r.(?)" "p.(=)" "" "0000682957" "00000084" "10" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(=)" "" "0000682958" "00000084" "10" "924" "0" "924" "0" "c.924C>T" "r.(?)" "p.(=)" "" "0000682959" "00000084" "10" "2214" "0" "2214" "0" "c.2214A>C" "r.(?)" "p.(=)" "" "0000682960" "00000084" "10" "2382" "0" "2382" "0" "c.2382C>T" "r.(?)" "p.(=)" "" "0000682961" "00000084" "10" "2458" "30" "2458" "30" "c.2458+30A>G" "r.(?)" "p.(=)" "" "0000682962" "00000084" "10" "2916" "27" "2916" "27" "c.2916+27del" "r.(?)" "p.(=)" "" "0000682963" "00000084" "10" "3417" "0" "3417" "0" "c.3417T>C" "r.(?)" "p.(=)" "" "0000682964" "00000084" "10" "3528" "0" "3528" "0" "c.3528C>T" "r.(?)" "p.(=)" "" "0000682965" "00000084" "70" "2250" "0" "2250" "0" "c.2250dup" "r.(?)" "p.(Asn751Glnfs*5)" "" "0000682966" "00000084" "70" "2126" "0" "2126" "0" "c.2126G>T" "r.(?)" "p.(Cys709Phe)" "" "0000682967" "00000084" "70" "1868" "0" "1868" "0" "c.1868G>T" "r.(?)" "p.(Gly623Val)" "" "0000682968" "00000084" "70" "1205" "0" "1205" "0" "c.1205dup" "r.(?)" "p.(Gln403Thrfs*13)" "" "0000682969" "00000084" "70" "1860" "0" "1860" "0" "c.1860dup" "r.(?)" "p.(Phe621Leufs*8)" "" "0000682970" "00000084" "70" "311" "0" "311" "0" "c.311dup" "r.(?)" "p.(Asn105Glnfs*39)" "" "0000682992" "00000084" "90" "-100" "0" "-100" "0" "c.-100C>T" "r.(?)" "p.(=)" "" "0000682993" "00000084" "50" "2917" "-10" "2917" "-10" "c.2917-10A>G" "r.spl?" "p.?" "" "0000683012" "00000084" "90" "" "0" "" "0" "c.-516_(81+1_82-1){0}" "r.0?" "p.0?" "_1_1i" "0000683013" "00000084" "90" "776" "0" "776" "0" "c.776G>T" "r.(?)" "p.(Gly259Val)" "6" "0000683014" "00000084" "90" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(Gln281*)" "6" "0000683015" "00000084" "90" "1026" "0" "1026" "0" "c.1026dup" "r.(?)" "p.(Asp343*)" "8" "0000683016" "00000084" "90" "1057" "0" "1057" "0" "c.1057G>T" "r.(?)" "p.(Glu353*)" "8" "0000683017" "00000084" "90" "1395" "1" "1395" "1" "c.1395+1G>A" "r.spl" "p.?" "11i" "0000683018" "00000084" "90" "1395" "1" "1395" "1" "c.1395+1G>A" "r.spl" "p.?" "11i" "0000683019" "00000084" "90" "1720" "0" "1720" "0" "c.1720G>C" "r.spl?" "p.?" "13" "0000683020" "00000084" "90" "2239" "0" "2239" "0" "c.2239dup" "r.(?)" "p.(Ser747Lysfs*9)" "18" "0000683021" "00000084" "90" "2650" "0" "2650" "0" "c.2650C>T" "r.(?)" "p.(Gln884*)" "22" "0000683022" "00000084" "90" "2874" "0" "2875" "0" "c.2874_2875del" "r.(?)" "p.(Ala959Glufs*7)" "23" "0000683023" "00000084" "90" "3012" "0" "3024" "0" "c.3012_3024del" "r.(?)" "p.(Ser1005Thrfs*27)" "24" "0000683024" "00000084" "90" "3164" "0" "3167" "0" "c.3164_3167del" "r.(?)" "p.(Val1055Glufs*7)" "25" "0000683025" "00000084" "90" "1868" "0" "1868" "0" "c.1868del" "r.(?)" "p.(Gly623Glufs*120)" "14" "0000683026" "00000084" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147*)" "3" "0000683027" "00000084" "90" "866" "0" "866" "0" "c.866del" "r.(?)" "p.(Gly289Alafs*123)" "6" "0000683028" "00000084" "90" "1323" "0" "1326" "0" "c.1323_1326del" "r.(?)" "p.(Met443Valfs*6)" "10" "0000683029" "00000084" "90" "1771" "0" "1775" "0" "c.1771_1775delinsT" "r.(?)" "p.(Val591Cysfs*151)" "14" "0000683030" "00000084" "90" "2628" "0" "2628" "0" "c.2628G>A" "r.(?)" "p.(Trp876*)" "22" "0000683031" "00000084" "90" "439" "2" "439" "2" "c.439+2dup" "r.spl?" "p.?" "3i" "0000683032" "00000084" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "4" "0000683033" "00000084" "90" "2572" "1" "2572" "1" "c.2572+1G>T" "r.spl" "p.?" "21i" "0000683034" "00000084" "90" "980" "0" "989" "0" "c.980_989del" "r.(?)" "p.(Gly327Aspfs*82)" "7" "0000683035" "00000084" "90" "1007" "0" "1007" "0" "c.1007del" "r.(?)" "p.(Ala336Valfs*76)" "8" "0000683036" "00000084" "90" "2230" "0" "2230" "0" "c.2230del" "r.(?)" "p.(Arg744Glufs*76)" "18" "0000683037" "00000084" "90" "2502" "0" "2502" "0" "c.2502del" "r.(?)" "p.(Cys835Valfs*35)" "21" "0000683038" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "5" "0000683039" "00000084" "90" "2473" "0" "2473" "0" "c.2473C>T" "r.(?)" "p.(Gln825*)" "21" "0000683040" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900*)" "23" "0000683041" "00000084" "90" "3140" "0" "3140" "0" "c.3140C>A" "r.(?)" "p.(Ser1047*)" "25" "0000683042" "00000084" "90" "" "0" "" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000683043" "00000084" "90" "1148" "0" "1149" "0" "c.1148_1149del" "r.(?)" "p.(Cys383Phefs*11)" "9" "0000683044" "00000084" "90" "3099" "0" "3100" "0" "c.3099_3100del" "r.(?)" "p.(Asp1033Glufs*7)" "25" "0000683045" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744*)" "18" "0000683046" "00000084" "90" "1349" "-10" "1353" "0" "c.1349-10_1353del" "r.spl" "p.?" "10i_11" "0000683047" "00000084" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "9" "0000683048" "00000084" "90" "410" "0" "410" "0" "c.410del" "r.(?)" "p.(Glu137Glyfs*24)" "3" "0000683049" "00000084" "90" "693" "0" "694" "0" "c.693_694del" "r.(?)" "p.(Arg231Serfs*10)" "4" "0000683050" "00000084" "90" "1468" "0" "1468" "0" "c.1468G>T" "r.(?)" "p.(Glu490*)" "12" "0000683051" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl" "p.?" "3i" "0000683052" "00000084" "90" "" "0" "" "0" "c.-516_(755+1_756-1){0}" "r.0?" "p.0?" "_1_5i" "0000683053" "00000084" "90" "755" "2" "755" "2" "c.755+2T>G" "r.spl" "p.?" "5i" "0000683054" "00000084" "90" "1382" "0" "1383" "0" "c.1382_1383del" "r.(?)" "p.(Asp461Glyfs*8)" "11" "0000683055" "00000084" "90" "1842" "0" "1842" "0" "c.1842del" "r.(?)" "p.(Cys615Valfs*128)" "14" "0000683056" "00000084" "90" "1859" "0" "1859" "0" "c.1859del" "r.(?)" "p.(Gly620Alafs*123)" "14" "0000683057" "00000084" "90" "2909" "0" "2913" "0" "c.2909_2913del" "r.(?)" "p.(Met970Thrfs*11)" "23" "0000683058" "00000084" "90" "2070" "0" "2073" "0" "c.2070_2073dup" "r.(?)" "p.(Asp692Leufs*2)" "16" "0000683059" "00000084" "90" "3088" "0" "3088" "0" "c.3088dup" "r.(?)" "p.(Glu1030Glyfs*4)" "25" "0000683060" "00000084" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147*)" "3" "0000683061" "00000084" "90" "766" "0" "766" "0" "c.766G>T" "r.(?)" "p.(Gly256Cys)" "6" "0000683062" "00000084" "90" "2026" "0" "2026" "0" "c.2026T>G" "r.(?)" "p.(Cys676Gly)" "16" "0000683063" "00000084" "90" "3011" "0" "3023" "0" "c.3011_3023dup" "r.(?)" "p.(Asn1009Phefs*7)" "24" "0000683064" "00000084" "90" "2225" "0" "2226" "0" "c.2225_2226del" "r.(?)" "p.(Ile742Serfs*5)" "17" "0000683065" "00000084" "90" "702" "0" "702" "0" "c.702C>A" "r.(?)" "p.(Cys234*)" "5" "0000683066" "00000084" "90" "238" "0" "238" "0" "c.238A>G" "r.(?)" "p.(Lys80Glu)" "2" "0000683067" "00000084" "90" "" "0" "" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000683068" "00000084" "90" "" "0" "" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000683069" "00000084" "90" "" "0" "" "0" "c.(81+1_82-1)_*1814{0}" "r.?" "p.?" "_1i_26_" "0000683070" "00000084" "90" "2791" "0" "2791" "0" "c.2791dup" "r.(?)" "p.(Thr931Asnfs*21)" "23" "0000683071" "00000084" "90" "819" "0" "819" "0" "c.819del" "r.(?)" "p.(His273Glnfs*139)" "6" "0000683072" "00000084" "90" "1899" "0" "1900" "0" "c.1899_1900del" "r.(?)" "p.(Cys633*)" "15" "0000683073" "00000084" "90" "1499" "0" "1499" "0" "c.1499del" "r.(?)" "p.(Gly500Valfs*64)" "12" "0000683074" "00000084" "90" "2314" "0" "2314" "0" "c.2314del" "r.(?)" "p.(Glu772Lysfs*48)" "18" "0000683075" "00000084" "90" "3244" "0" "3256" "0" "c.3244_3256del" "r.(?)" "p.(Ile1082*)" "26" "0000683076" "00000084" "90" "2990" "0" "2990" "0" "c.2990C>A" "r.(?)" "p.(Ser997*)" "24" "0000683077" "00000084" "90" "3031" "0" "3031" "0" "c.3031G>T" "r.(?)" "p.(Glu1011*)" "24" "0000683078" "00000084" "90" "2345" "-2" "2345" "-2" "c.2345-2A>G" "r.spl" "p.?" "18i" "0000683079" "00000084" "90" "2071" "0" "2071" "0" "c.2071T>A" "r.(?)" "p.(Cys691Ser)" "16" "0000683080" "00000084" "90" "897" "0" "897" "0" "c.897del" "r.(?)" "p.(Cys300Valfs*112)" "7" "0000683081" "00000084" "90" "3194" "0" "3195" "0" "c.3194_3195del" "r.(?)" "p.(Arg1065Asnfs*43)" "25" "0000683082" "00000084" "90" "1281" "0" "1281" "0" "c.1281dup" "r.(?)" "p.(Lys428*)" "10" "0000683083" "00000084" "90" "2990" "0" "2990" "0" "c.2990C>A" "r.(?)" "p.(Ser997*)" "24" "0000683084" "00000084" "90" "1382" "0" "1383" "0" "c.1382_1383del" "r.(?)" "p.(Asp461Glyfs*8)" "11" "0000683085" "00000084" "90" "1931" "0" "1931" "0" "c.1931del" "r.(?)" "p.(Cys644Serfs*99)" "15" "0000683086" "00000084" "90" "2284" "0" "2287" "0" "c.2284_2287dup" "r.(?)" "p.(Gly763Glufs*24)" "18" "0000683087" "00000084" "90" "1885" "3" "1885" "4" "c.1885+3_1885+4insGT" "r.spl?" "p.?" "14i" "0000683088" "00000084" "90" "65" "0" "65" "0" "c.65del" "r.(?)" "p.(Cys22Leufs*24)" "1" "0000683089" "00000084" "90" "1118" "0" "1118" "0" "c.1118del" "r.(?)" "p.(Thr373Lysfs*39)" "8" "0000683090" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900*)" "23" "0000683091" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "5" "0000683092" "00000084" "90" "826" "0" "826" "0" "c.826del" "r.(?)" "p.(Cys276Valfs*136)" "6" "0000683093" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl" "p.?" "3i" "0000683094" "00000084" "90" "3006" "0" "3006" "0" "c.3006C>A" "r.(?)" "p.(Cys1002*)" "24" "0000683095" "00000084" "90" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Gln403*)" "" "0000683096" "00000084" "90" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Gln535*)" "" "0000683097" "00000084" "90" "388" "-1" "388" "-1" "c.388-1G>C" "r.spl" "p.?" "" "0000683098" "00000084" "90" "142" "0" "142" "0" "c.142G>T" "r.(?)" "p.(Glu48*)" "" "0000683099" "00000084" "90" "1986" "0" "1986" "0" "c.1986dup" "r.(?)" "p.(Tyr663Leufs*3)" "" "0000683100" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000683101" "00000084" "90" "3196" "0" "3196" "0" "c.3196dup" "r.(?)" "p.(Thr1066Asnfs*43)" "" "0000683102" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000683103" "00000084" "90" "2418" "0" "2418" "0" "c.2418C>A" "r.(?)" "p.(Cys806*)" "" "0000683104" "00000084" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258*)" "" "0000683105" "00000084" "90" "765" "0" "765" "0" "c.765C>R" "r.(?)" "p.(Tyr255*)" "" "0000683106" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "" "0000683107" "00000084" "90" "770" "0" "770" "0" "c.770^771G>A" "r.(?)" "p.(Trp257*)" "" "0000683108" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000683109" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "" "0000683110" "00000084" "90" "886" "3" "886" "3" "c.886+3A>G" "r.spl?" "p.?" "" "0000683111" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl" "p.?" "" "0000683112" "00000084" "90" "1485" "0" "1486" "0" "c.1485_1486del" "r.(?)" "p.(Cys496Phefs*9)" "" "0000683113" "00000084" "90" "1485" "0" "1486" "0" "c.1485_1486del" "r.(?)" "p.(Cys496Phefs*9)" "" "0000683114" "00000084" "90" "1721" "-1" "1721" "-1" "c.1721-1G>C" "r.spl" "p.?" "" "0000683115" "00000084" "90" "1395" "3" "1395" "3" "c.1395+3A>G" "r.spl?" "p.?" "" "0000683116" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900*)" "" "0000683117" "00000084" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "" "0000683118" "00000084" "90" "59" "0" "59" "0" "c.59T>G" "r.(?)" "p.(Leu20Arg)" "" "0000683119" "00000084" "90" "142" "0" "142" "0" "c.142G>T" "r.(?)" "p.(Glu48*)" "" "0000683120" "00000084" "70" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Pro810Leu)" "" "0000683121" "00000084" "70" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937Gln)" "" "0000683122" "00000084" "70" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937Gln)" "" "0000683128" "00000084" "90" "" "0" "" "0" "c.(1120+1_1121-1)_*1814{0}" "r.?" "p.?" "8i_26_" "0000683129" "00000084" "90" "" "0" "" "0" "c.(755+1_756-1)_*1814{0}" "r.?" "p.?" "5i_26_" "0000683130" "00000084" "90" "-26" "0" "9" "0" "c.-26_9del" "r.(?)" "p.0?" "1" "0000683131" "00000084" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.(Leu20Pro)" "1" "0000683132" "00000084" "90" "211" "0" "211" "0" "c.211dup" "r.(?)" "p.(Cys71Leufs*2)" "2" "0000683133" "00000084" "90" "225" "0" "225" "0" "c.225C>A" "r.(?)" "p.(Phe75Leu)" "2" "0000683134" "00000084" "90" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Cys78Arg)" "2" "0000683135" "00000084" "90" "406" "0" "407" "0" "c.406_407ins(6)" "r.(?)" "p.(Leu135_Val136insAspAsn)" "3" "0000683136" "00000084" "90" "438" "0" "439" "2" "c.438_439+2del" "r.spl" "p.?" "3" "0000683137" "00000084" "90" "536" "0" "536" "0" "c.536T>C" "r.(?)" "p.(Phe179Ser)" "4" "0000683138" "00000084" "90" "682" "0" "683" "0" "c.682_683ins(8)" "r.(?)" "p.(Glu228fs)" "4" "0000683139" "00000084" "90" "694" "1" "694" "1" "c.694+1G>T" "r.spl" "p.?" "4i" "0000683140" "00000084" "90" "794" "0" "794" "0" "c.794G>T" "r.(?)" "p.(Cys265Phe)" "6" "0000683141" "00000084" "90" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Asp296Asn)" "6" "0000683142" "00000084" "90" "866" "0" "866" "0" "c.866del" "r.(?)" "p.(Gly289Alafs*123)" "6" "0000683143" "00000084" "90" "960" "0" "960" "0" "c.960T>A" "r.0" "p.(Tyr320*)" "7" "0000683144" "00000084" "90" "1081" "0" "1081" "0" "c.1081G>T" "r.(?)" "p.(Glu361*)" "7" "0000683145" "00000084" "90" "1098" "0" "1098" "0" "c.1098G>A" "r.(?)" "p.(Trp366*)" "8" "0000683146" "00000084" "90" "1419" "0" "1419" "0" "c.1419dup" "r.(?)" "p.(Ile474Tyrfs*12)" "12" "0000683147" "00000084" "90" "1473" "0" "1474" "0" "c.1473_1474del" "r.spl" "p.(Ala492Glnfs*13)" "12" "0000683148" "00000084" "90" "1763" "0" "1763" "0" "c.1763del" "r.(?)" "p.(Pro588Leufs*155)" "14" "0000683149" "00000084" "90" "1786" "0" "1786" "0" "c.1786del" "r.(?)" "p.(Ser596Profs*147)" "14" "0000683150" "00000084" "90" "2072" "0" "2072" "0" "c.2072G>A" "r.(?)" "p.(Cys691Tyr)" "16" "0000683151" "00000084" "90" "2150" "0" "2150" "0" "c.2150del" "r.(?)" "p.(Gly717Valfs*26)" "17" "0000683152" "00000084" "90" "2225" "0" "2226" "0" "c.2225_2226del" "r.spl" "p.(Ile742Serfs*5)" "17" "0000683153" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.0?" "p.(Arg744*)" "17" "0000683154" "00000084" "90" "2275" "0" "2275" "0" "c.2275T>G" "r.spl" "p.(Cys759Gly)" "18" "0000683155" "00000084" "90" "2250" "0" "2250" "0" "c.2250dup" "r.(?)" "p.(Asn751Glnfs*5)" "18" "0000683156" "00000084" "90" "2270" "0" "2270" "0" "c.2270dup" "r.(?)" "p.(Thr758Hisfs*28)" "18" "0000683157" "00000084" "90" "2304" "0" "2305" "0" "c.2304_2305delinsT" "r.(?)" "p.(Val769Serfs*51)" "18" "0000683158" "00000084" "90" "2345" "-2" "2345" "-2" "c.2345-2A>C" "r.spl" "p.?" "18i" "0000683159" "00000084" "90" "2458" "4" "2458" "4" "c.2458+4del" "r.spl?" "p.?" "20i" "0000683160" "00000084" "90" "2572" "1" "2572" "1" "c.2572+1G>T" "r.spl" "p.?" "21i" "0000683161" "00000084" "90" "2807" "0" "2807" "0" "c.2807G>A" "r.(?)" "p.(Cys936Tyr)" "23" "0000683162" "00000084" "90" "2938" "0" "2938" "0" "c.2938T>C" "r.(?)" "p.(Cys980Arg)" "24" "0000683163" "00000084" "90" "3007" "0" "3020" "0" "c.3007_3020dup" "r.(?)" "p.(Ala1008Serfs*33)" "24" "0000683164" "00000084" "90" "3031" "0" "3031" "0" "c.3031G>T" "r.(?)" "p.(Glu1011*)" "24" "0000683165" "00000084" "90" "3037" "0" "3038" "0" "c.3037_3038del" "r.(?)" "p.(His1013Cysfs*6)" "24" "0000683166" "00000084" "90" "3114" "0" "3114" "0" "c.3114del" "r.(?)" "p.(Val1039Leufs*10)" "25" "0000683168" "00000084" "90" "238" "0" "238" "0" "c.238A>T" "r.(?)" "p.(Lys80*)" "2" "0000683169" "00000084" "70" "359" "0" "359" "0" "c.359T>C" "r.(?)" "p.(Ile120Thr)" "2" "0000683170" "00000084" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147*)" "3" "0000683171" "00000084" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "4" "0000683172" "00000084" "90" "785" "0" "789" "0" "c.785_789del" "r.(?)" "p.(Cys262*)" "6" "0000683173" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000683174" "00000084" "90" "2767" "0" "2767" "0" "c.2767dup" "r.(?)" "p.(Asp923Glyfs*29)" "23" "0000683175" "00000084" "90" "2927" "0" "2927" "0" "c.2927del" "r.(?)" "p.(Thr976Argfs*8)" "24" "0000683176" "00000084" "90" "3007" "0" "3010" "0" "c.3007_3010del" "r.(?)" "p.(Glu1003Leufs*32)" "24" "0000683177" "00000084" "90" "-97" "0" "3827" "0" "c.(?_-97)_(*170_?)del" "r.0" "p.0" "_1_26_" "0000683178" "00000084" "90" "1262" "0" "1262" "0" "c.1262G>A" "r.(?)" "p.(Cys421Tyr)" "10" "0000683179" "00000084" "90" "98" "0" "98" "0" "c.98G>T" "r.(?)" "p.(Gly33Val)" "2" "0000683180" "00000084" "90" "828" "0" "828" "0" "c.828dup" "r.(?)" "p.(Asn277*)" "6" "0000683181" "00000084" "90" "1007" "-1" "1120" "1" "c.(1006+1_1007-1)_(1120+1_1121-1)del" "r.?" "p.?" "8i_9i" "0000683182" "00000084" "90" "1326" "0" "1326" "0" "c.1326G>A" "r.(?)" "p.(Trp442*)" "10" "0000683183" "00000084" "90" "2204" "0" "2204" "0" "c.2204G>A" "r.(?)" "p.(Trp735*)" "17" "0000683184" "00000084" "90" "2863" "0" "2863" "0" "c.2863C>T" "r.(?)" "p.(Gln955*)" "23" "0000683185" "00000084" "90" "2916" "2" "2916" "2" "c.2916+2T>C" "r.spl" "p.?" "23i" "0000683186" "00000084" "90" "225" "0" "225" "0" "c.225C>G" "r.(?)" "p.(Phe75Leu)" "2" "0000683187" "00000084" "90" "" "0" "" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000683188" "00000084" "90" "" "0" "" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000683189" "00000084" "90" "" "0" "" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000683190" "00000084" "90" "388" "-1" "439" "1" "c.(387+1_388-1)_(439+1_440-1)del" "r.?" "p.?" "2i_3i" "0000683191" "00000084" "90" "2205" "0" "2205" "0" "c.2205G>A" "r.(?)" "p.(Trp735*)" "17" "0000683192" "00000084" "90" "2954" "0" "2954" "0" "c.2954dup" "r.(?)" "p.(Asn985Lysfs*11)" "24" "0000683193" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl" "p.?" "3i" "0000683194" "00000084" "90" "483" "0" "483" "0" "c.483del" "r.(?)" "p.(Asn162Thrfs*9)" "4" "0000683195" "00000084" "90" "655" "0" "655" "0" "c.655del" "r.(?)" "p.(Thr219Leufs*193)" "4" "0000683422" "00000084" "90" "270" "0" "270" "0" "c.270dup" "r.(?)" "p.(Pro91Alafs*53)" "" "0000683423" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl" "p.?" "3i" "0000683424" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "" "0000683425" "00000084" "90" "864" "0" "864" "0" "c.864G>C" "r.(?)" "p.(Trp288Cys)" "" "0000683426" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "17" "0000683427" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000683428" "00000084" "90" "3164" "0" "3167" "0" "c.3164_3167del" "r.(?)" "p.(Val1055Glufs*7)" "" "0000683429" "00000084" "90" "0" "0" "0" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000683430" "00000084" "90" "0" "0" "0" "0" "c.-516_*1814{0}" "r.0" "p.0" "_1_26_" "0000683433" "00000084" "90" "437" "0" "439" "2" "c.437_439+2del" "r.spl" "p.?" "3i" "0000683434" "00000084" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Gly386Arg)" "" "0000683435" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708Valfs*34)" "" "0000683436" "00000084" "90" "2572" "1" "2572" "1" "c.2572+1G>T" "r.spl" "p.?" "21i" "0000683479" "00000084" "50" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "_1_26_" "0000683483" "00000084" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000684812" "00000084" "30" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Val45Leu)" "" "0000686503" "00000084" "70" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Cys196Tyr)" "" "0000692933" "00000084" "50" "3638" "0" "3638" "0" "c.3638G>A" "r.(?)" "p.(Arg1213Gln)" "" "0000692934" "00000084" "30" "3570" "0" "3570" "0" "c.3570G>A" "r.(?)" "p.(Pro1190=)" "" "0000692935" "00000084" "30" "3570" "0" "3570" "0" "c.3570G>A" "r.(?)" "p.(Pro1190=)" "" "0000692936" "00000084" "50" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843Trp)" "" "0000695601" "00000084" "70" "534" "0" "534" "0" "c.534del" "r.(?)" "p.(Phe179Leufs*7)" "" "0000713967" "00000084" "70" "2024" "0" "2024" "0" "c.2024C>T" "r.(?)" "p.(Pro675Leu)" "" "0000713968" "00000084" "70" "271" "0" "271" "0" "c.271C>A" "r.(?)" "p.(Pro91Thr)" "" "0000727598" "00000084" "30" "2329" "0" "2329" "0" "c.2329C>T" "r.(?)" "p.(Pro777Ser)" "" "0000727599" "00000084" "30" "1389" "0" "1389" "0" "c.1389C>T" "r.(?)" "p.(Ser463=)" "" "0000727600" "00000084" "30" "1383" "0" "1383" "0" "c.1383C>T" "r.(?)" "p.(Asp461=)" "" "0000727601" "00000084" "30" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ser372Phe)" "" "0000727602" "00000084" "30" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(His273=)" "" "0000727603" "00000084" "50" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Asp204Gly)" "" "0000729342" "00000084" "90" "387" "1" "387" "188" "c.387+1_387+188del" "r.331_387del" "p.Ala111_Pro129del" "2" "0000729345" "00000084" "70" "2372" "3" "2372" "6" "c.2372+3_2372+6del" "r.2372_2373ins[gu,2372+7_2373+43]" "p.Cys791delinsWCDILLSQHSSTIV" "" "0000730689" "00000084" "90" "3164" "0" "3167" "0" "c.3164_3167del" "r.(?)" "p.(Val1055Glufs*7)" "25" "0000765479" "00000084" "70" "1442" "0" "1442" "0" "c.1442G>A" "r.(?)" "p.(Gly481Asp)" "" "0000765497" "00000084" "90" "1829" "0" "1829" "0" "c.1829G>A" "r.(?)" "p.(Gly610Glu)" "" "0000765891" "00000084" "90" "1481" "0" "1481" "0" "c.1481dup" "r.(?)" "p.(Asn494LysfsTer12)" "" "0000788159" "00000084" "50" "1511" "0" "1511" "0" "c.1511A>G" "r.(?)" "p.(Asn504Ser)" "" "0000788440" "00000084" "50" "3038" "0" "3038" "0" "c.3038A>T" "r.(?)" "p.(His1013Leu)" "24" "0000793767" "00000084" "70" "2024" "0" "2024" "0" "c.2024C>T" "r.(?)" "p.(Pro675Leu)" "16" "0000793768" "00000084" "70" "271" "0" "271" "0" "c.271C>A" "r.(?)" "p.(Pro91Thr)" "2" "0000795117" "00000084" "50" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Thr408Met)" "" "0000796917" "00000084" "90" "1455" "0" "1456" "0" "c.1455_1456insTG" "r.(?)" "p.(Arg486*)" "12" "0000809158" "00000084" "50" "2828" "0" "2828" "0" "c.2828C>T" "r.(?)" "p.(Pro943Leu)" "" "0000809159" "00000084" "10" "2073" "0" "2073" "0" "c.2073T>C" "r.(?)" "p.(Cys691=)" "" "0000809160" "00000084" "50" "1771" "0" "1771" "0" "c.1771G>A" "r.(?)" "p.(Val591Met)" "" "0000809161" "00000084" "30" "1755" "0" "1755" "0" "c.1755C>T" "r.(?)" "p.(Asn585=)" "" "0000809162" "00000084" "30" "887" "-4" "887" "-4" "c.887-4G>A" "r.spl?" "p.?" "" "0000809163" "00000084" "10" "886" "19" "886" "19" "c.886+19A>T" "r.(=)" "p.(=)" "" "0000809164" "00000084" "30" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Gly175=)" "" "0000809165" "00000084" "10" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Ala138=)" "" "0000809166" "00000084" "30" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Ser98=)" "" "0000816096" "00000084" "70" "3199" "251" "5471" "0" "c.3199+251_(*1814_?)dup" "r.spl" "p.(?)" "" "0000822705" "00000084" "70" "3164" "0" "3167" "0" "c.3164_3167del" "r.(?)" "p.(Val1055Glufs*7)" "25" "0000826991" "00000084" "90" "-516" "0" "5471" "0" "c.(?_-516)_(*1814_?)del" "r.0?" "p.0?" "" "0000842275" "00000084" "90" "2122" "0" "2125" "0" "c.2122_2125del" "r.(?)" "p.(Gln708ValfsTer34)" "" "0000855754" "00000084" "30" "3467" "0" "3467" "0" "c.3467T>C" "r.(?)" "p.(Val1156Ala)" "" "0000855755" "00000084" "10" "2934" "0" "2934" "0" "c.2934C>T" "r.(?)" "p.(His978=)" "" "0000855756" "00000084" "30" "2778" "0" "2778" "0" "c.2778C>T" "r.(?)" "p.(Phe926=)" "" "0000855757" "00000084" "50" "2227" "2" "2227" "3" "c.2227+2_2227+3insTTATGTTACAACTTTATGTAAC" "r.spl?" "p.?" "" "0000855758" "00000084" "30" "1608" "0" "1608" "0" "c.1608C>T" "r.(?)" "p.(Asn536=)" "" "0000855759" "00000084" "50" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Asp204Gly)" "" "0000855760" "00000084" "50" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Asp204Gly)" "" "0000866380" "00000084" "30" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(Arg683=)" "" "0000866381" "00000084" "30" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Ala480Val)" "" "0000866382" "00000084" "30" "1383" "0" "1383" "0" "c.1383C>T" "r.(?)" "p.(Asp461=)" "" "0000871666" "00000084" "70" "3548" "0" "3552" "0" "c.3548_3552del" "r.(?)" "p.(Glu1183Alafs*44)" "" "0000895211" "00000084" "30" "3065" "0" "3065" "0" "c.3065G>A" "r.(?)" "p.(Arg1022Gln)" "" "0000895212" "00000084" "10" "2604" "0" "2604" "0" "c.2604T>C" "r.(?)" "p.(Ser868=)" "" "0000895213" "00000084" "30" "2596" "0" "2596" "0" "c.2596A>G" "r.(?)" "p.(Met866Val)" "" "0000895214" "00000084" "30" "2573" "-16" "2573" "-16" "c.2573-16C>T" "r.(=)" "p.(=)" "" "0000895215" "00000084" "50" "2498" "0" "2498" "0" "c.2498C>T" "r.(?)" "p.(Ala833Val)" "" "0000895216" "00000084" "50" "2413" "0" "2413" "0" "c.2413C>T" "r.(?)" "p.(Arg805Trp)" "" "0000895217" "00000084" "50" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0000895218" "00000084" "30" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0000895219" "00000084" "70" "2186" "0" "2186" "0" "c.2186G>A" "r.(?)" "p.(Cys729Tyr)" "" "0000895220" "00000084" "30" "1349" "-11" "1349" "-11" "c.1349-11T>G" "r.(=)" "p.(=)" "" "0000895221" "00000084" "30" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(Pro440=)" "" "0000895222" "00000084" "30" "1120" "10" "1120" "10" "c.1120+10A>G" "r.(=)" "p.(=)" "" "0000895223" "00000084" "50" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(His242Arg)" "" "0000895224" "00000084" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Ter)" "" "0000895225" "00000084" "70" "672" "0" "672" "0" "c.672G>C" "r.(?)" "p.(Trp224Cys)" "" "0000895226" "00000084" "10" "439" "9" "439" "9" "c.439+9C>T" "r.(=)" "p.(=)" "" "0000895227" "00000084" "50" "329" "0" "334" "0" "c.329_334dup" "r.(?)" "p.(Lys110_Ala111dup)" "" "0000895228" "00000084" "10" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Ser98=)" "" "0000895229" "00000084" "30" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Val45Leu)" "" "0000915339" "00000084" "10" "3555" "0" "3555" "0" "c.3555C>T" "r.(?)" "p.(Pro1185=)" "" "0000915340" "00000084" "50" "3431" "0" "3431" "0" "c.3431C>T" "r.(?)" "p.(Ser1144Phe)" "" "0000915341" "00000084" "50" "3287" "0" "3287" "0" "c.3287G>A" "r.(?)" "p.(Arg1096Gln)" "" "0000915342" "00000084" "30" "439" "10" "439" "10" "c.439+10G>A" "r.(=)" "p.(=)" "" "0000922201" "00000084" "50" "140" "0" "140" "0" "c.140G>C" "r.(?)" "p.(Gly47Ala)" "" "0000926966" "00000084" "50" "2884" "0" "2884" "0" "c.2884A>G" "r.(?)" "p.(Thr962Ala)" "" "0000926967" "00000084" "30" "1920" "0" "1920" "0" "c.1920C>T" "r.(?)" "p.(Asn640=)" "" "0000926968" "00000084" "90" "1304" "0" "1304" "0" "c.1304dup" "r.(?)" "p.(Tyr435*)" "" "0000926969" "00000084" "10" "886" "19" "886" "19" "c.886+19A>T" "r.(=)" "p.(=)" "" "0000926970" "00000084" "10" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(Tyr255=)" "" "0000926971" "00000084" "10" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Cys196=)" "" "0000926972" "00000084" "90" "536" "0" "536" "0" "c.536T>C" "r.(?)" "p.(Phe179Ser)" "" "0000931137" "00000084" "90" "3009" "0" "3018" "0" "c.3009_3018dup" "r.(?)" "p.(Ser1007Alafs*8)" "" "0000931138" "00000084" "50" "2927" "0" "2927" "0" "c.2927C>G" "r.(?)" "p.(Thr976Arg)" "" "0000931139" "00000084" "10" "2459" "-17" "2459" "-17" "c.2459-17A>C" "r.(=)" "p.(=)" "" "0000931140" "00000084" "30" "2344" "146" "2344" "146" "c.2344+146C>A" "r.(=)" "p.(=)" "" "0000931141" "00000084" "30" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0000931142" "00000084" "30" "1396" "-16" "1396" "-16" "c.1396-16C>T" "r.(=)" "p.(=)" "" "0000931143" "00000084" "30" "1146" "0" "1146" "0" "c.1146C>T" "r.(?)" "p.(=)" "" "0000931144" "00000084" "10" "909" "0" "909" "0" "c.909T>C" "r.(?)" "p.(His303=)" "" "0000931145" "00000084" "30" "439" "9" "439" "9" "c.439+9C>T" "r.(=)" "p.(=)" "" "0000931146" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl?" "p.?" "" "0000931638" "00000084" "30" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0000931661" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900Ter)" "" "0000951391" "00000084" "30" "3570" "0" "3570" "0" "c.3570G>A" "r.(?)" "p.(Pro1190=)" "" "0000951392" "00000084" "50" "2837" "0" "2837" "0" "c.2837C>A" "r.(?)" "p.(Thr946Lys)" "" "0000951393" "00000084" "30" "2778" "0" "2778" "0" "c.2778C>T" "r.(?)" "p.(Phe926=)" "" "0000951394" "00000084" "10" "2766" "0" "2766" "0" "c.2766C>T" "r.(?)" "p.(Asp922=)" "" "0000951395" "00000084" "30" "2559" "0" "2559" "0" "c.2559C>T" "r.(?)" "p.(=)" "" "0000951396" "00000084" "10" "2458" "40" "2458" "40" "c.2458+40C>T" "r.(=)" "p.(=)" "" "0000951397" "00000084" "50" "2312" "0" "2312" "0" "c.2312A>G" "r.(?)" "p.(Lys771Arg)" "" "0000951398" "00000084" "30" "2301" "0" "2301" "0" "c.2301G>A" "r.(?)" "p.(Thr767=)" "" "0000951399" "00000084" "10" "2227" "17" "2227" "17" "c.2227+17C>T" "r.(=)" "p.(=)" "" "0000951400" "00000084" "30" "2000" "-52" "2000" "-52" "c.2000-52G>A" "r.(=)" "p.(=)" "" "0000951401" "00000084" "90" "1198" "0" "1199" "0" "c.1198_1199dup" "r.(?)" "p.(Pro401Alafs*12)" "" "0000951402" "00000084" "30" "1120" "67" "1120" "67" "c.1120+67G>A" "r.(=)" "p.(=)" "" "0000951403" "00000084" "50" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Asn332Asp)" "" "0000951404" "00000084" "90" "972" "0" "972" "0" "c.972C>A" "r.(?)" "p.(Cys324*)" "" "0000951405" "00000084" "30" "440" "-13" "440" "-13" "c.440-13A>G" "r.(=)" "p.(=)" "" "0000951406" "00000084" "30" "440" "-198" "440" "-198" "c.440-198C>G" "r.(=)" "p.(=)" "" "0000951407" "00000084" "30" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Ala138=)" "" "0000951408" "00000084" "10" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Ser98=)" "" "0000951409" "00000084" "10" "270" "0" "270" "0" "c.270G>T" "r.(?)" "p.(Gly90=)" "" "0000953836" "00000084" "70" "232" "0" "232" "0" "c.232T>A" "r.(?)" "p.(Cys78Ser)" "" "0000954799" "00000084" "90" "1511" "0" "1511" "0" "c.1511A>G" "r.(?)" "p.(Asn504Ser)" "" "0000957399" "00000084" "70" "1511" "0" "1511" "0" "c.1511A>G" "r.(?)" "p.(Asn504Ser)" "12" "0000957512" "00000084" "90" "1511" "0" "1511" "0" "c.1511A>G" "r.(?)" "p.(Asn504Ser)" "12" "0000957513" "00000084" "90" "1511" "0" "1511" "0" "c.1511A>G" "r.(?)" "p.(Asn504Ser)" "12" "0000960296" "00000084" "70" "686" "0" "686" "0" "c.686G>A" "r.(?)" "p.(Cys229Tyr)" "" "0000970065" "00000084" "30" "3200" "-216" "3200" "-216" "c.3200-216G>A" "r.(=)" "p.(=)" "" "0000970066" "00000084" "30" "3199" "129" "3199" "129" "c.3199+129G>C" "r.(=)" "p.(=)" "" "0000970067" "00000084" "10" "2916" "27" "2916" "27" "c.2916+27del" "r.(=)" "p.(=)" "" "0000970068" "00000084" "30" "2666" "0" "2666" "0" "c.2666G>A" "r.(?)" "p.(Arg889Gln)" "" "0000970069" "00000084" "30" "2559" "0" "2559" "0" "c.2559C>T" "r.(?)" "p.(=)" "" "0000970070" "00000084" "30" "1234" "204" "1234" "204" "c.1234+204G>A" "r.(=)" "p.(=)" "" "0000970071" "00000084" "30" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Gly368Ser)" "" "0000970072" "00000084" "30" "894" "0" "894" "0" "c.894T>C" "r.(?)" "p.(Asn298=)" "" "0000970073" "00000084" "30" "756" "-148" "756" "-148" "c.756-148C>T" "r.(=)" "p.(=)" "" "0000970074" "00000084" "30" "694" "97" "694" "97" "c.694+97G>C" "r.(=)" "p.(=)" "" "0000970076" "00000084" "50" "349" "0" "349" "0" "c.349C>G" "r.(?)" "p.(Arg117Gly)" "" "0000970077" "00000084" "30" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Val45Leu)" "" "0000971687" "00000084" "70" "245" "0" "245" "0" "c.245A>G" "r.(?)" "p.(Tyr82Cys)" "2" "0000972062" "00000084" "50" "3265" "0" "3265" "0" "c.3265T>C" "r.(?)" "p.(Phe1089Leu)" "" "0000983724" "00000084" "50" "3392" "0" "3392" "0" "c.3392C>T" "r.(?)" "p.(Ala1131Val)" "" "0000983725" "00000084" "30" "3329" "0" "3329" "0" "c.3329A>C" "r.(?)" "p.(Asn1110Thr)" "" "0000983726" "00000084" "50" "3017" "0" "3017" "0" "c.3017C>T" "r.(?)" "p.(Pro1006Leu)" "" "0000983727" "00000084" "30" "2345" "-217" "2345" "-217" "c.2345-217C>G" "r.(=)" "p.(=)" "" "0000983728" "00000084" "30" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(Arg683=)" "" "0000983729" "00000084" "30" "2000" "-40" "2000" "-40" "c.2000-40G>A" "r.(=)" "p.(=)" "" "0000983730" "00000084" "30" "1389" "0" "1389" "0" "c.1389C>T" "r.(?)" "p.(Ser463=)" "" "0000983731" "00000084" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(=)" "" "0000983732" "00000084" "30" "1121" "-191" "1121" "-191" "c.1121-191G>A" "r.(=)" "p.(=)" "" "0000983733" "00000084" "50" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Asn332Asp)" "" "0000983734" "00000084" "30" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(Asn162=)" "" "0000983735" "00000084" "30" "105" "0" "105" "0" "c.105C>T" "r.(?)" "p.(=)" "" "0000983736" "00000084" "30" "81" "184" "81" "184" "c.81+184G>C" "r.(=)" "p.(=)" "" "0000984931" "00000084" "70" "694" "1" "694" "2" "c.694+1_694+2del" "r.(?)" "p.(?)" "" "0000987414" "00000084" "90" "765" "0" "765" "0" "c.765C>A" "r.(?)" "p.(Tyr255Ter)" "" "0001005254" "00000084" "30" "3638" "0" "3638" "0" "c.3638G>A" "r.(?)" "p.(Arg1213Gln)" "" "0001005255" "00000084" "50" "3569" "0" "3569" "0" "c.3569C>T" "r.(?)" "p.(Pro1190Leu)" "" "0001005256" "00000084" "50" "2971" "0" "2971" "0" "c.2971A>G" "r.(?)" "p.(Asn991Asp)" "" "0001005257" "00000084" "30" "2837" "0" "2837" "0" "c.2837C>G" "r.(?)" "p.(Thr946Arg)" "" "0001005258" "00000084" "30" "2757" "0" "2757" "0" "c.2757C>T" "r.(?)" "p.(=)" "" "0001005259" "00000084" "90" "2682" "1" "2682" "1" "c.2682+1G>C" "r.spl?" "p.?" "" "0001005260" "00000084" "50" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Pro810Leu)" "" "0001005261" "00000084" "50" "2312" "0" "2312" "0" "c.2312A>G" "r.(?)" "p.(Lys771Arg)" "" "0001005262" "00000084" "50" "2200" "0" "2200" "0" "c.2200G>C" "r.(?)" "p.(Gly734Arg)" "" "0001005263" "00000084" "30" "2076" "0" "2076" "0" "c.2076C>A" "r.(?)" "p.(Asp692Glu)" "" "0001005264" "00000084" "70" "1843" "0" "1843" "0" "c.1843T>G" "r.(?)" "p.(Cys615Gly)" "" "0001005265" "00000084" "50" "1706" "0" "1706" "0" "c.1706C>G" "r.(?)" "p.(Thr569Arg)" "" "0001005266" "00000084" "70" "1639" "0" "1639" "0" "c.1639dup" "r.(?)" "p.(Tyr547Leufs*10)" "" "0001005267" "00000084" "10" "1578" "0" "1578" "0" "c.1578C>T" "r.(?)" "p.(Ile526=)" "" "0001005268" "00000084" "30" "729" "0" "729" "0" "c.729G>A" "r.(?)" "p.(=)" "" "0001005269" "00000084" "30" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(=)" "" "0001005270" "00000084" "90" "439" "1" "439" "1" "c.439+1G>A" "r.spl?" "p.?" "" "0001005271" "00000084" "30" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Ser142Asn)" "" "0001005272" "00000084" "90" "311" "0" "311" "0" "c.311del" "r.(?)" "p.(Gly104Alafs*57)" "" "0001005273" "00000084" "30" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59Gln)" "" "0001007480" "00000084" "70" "2105" "0" "2105" "0" "c.2105G>A" "r.(?)" "p.(Cys702Tyr)" "" "0001007481" "00000084" "70" "1657" "0" "1657" "0" "c.1657G>A" "r.(?)" "p.(Glu553Lys)" "" "0001007482" "00000084" "70" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Gly441Ser)" "" "0001007483" "00000084" "70" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Thr174Met)" "" "0001015849" "00000084" "30" "3296" "0" "3296" "0" "c.3296C>T" "r.(?)" "p.(Pro1099Leu)" "" "0001015850" "00000084" "50" "2219" "0" "2219" "0" "c.2219G>T" "r.(?)" "p.(Cys740Phe)" "" "0001015851" "00000084" "30" "1885" "10" "1885" "10" "c.1885+10C>A" "r.(=)" "p.(=)" "" "0001015852" "00000084" "70" "820" "0" "820" "0" "c.820G>T" "r.(?)" "p.(Gly274Cys)" "" "0001016467" "00000084" "90" "1419" "0" "1419" "0" "c.1419dup" "r.(?)" "p.(Ile474TyrfsTer12)" "" "0001016835" "00000084" "90" "1127" "0" "1127" "0" "c.1127A>G" "r.(?)" "p.(Asp376Gly)" "" "0001017250" "00000084" "90" "1485" "0" "1486" "0" "c.1485_1486del" "r.(?)" "p.(Cys496PhefsTer9)" "" "0001017386" "00000084" "50" "322" "0" "322" "0" "c.322A>C" "r.(?)" "p.(Asn108His)" "" "0001020257" "00000084" "90" "106" "0" "106" "0" "c.106G>T" "r.(?)" "p.(Glu36Ter)" "" "0001022074" "00000084" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.[1121_1157del,=]" "p.[Asn374ArgfsTer26,Gly386Arg]" "9" "0001027288" "00000084" "30" "2917" "-7" "2917" "-7" "c.2917-7G>A" "r.(=)" "p.(=)" "" "0001027289" "00000084" "30" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Arg937Gln)" "" "0001027290" "00000084" "90" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900Ter)" "" "0001027291" "00000084" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744Ter)" "" "0001027292" "00000084" "50" "1972" "0" "1972" "0" "c.1972G>A" "r.(?)" "p.(Gly658Ser)" "" "0001027293" "00000084" "50" "1703" "0" "1703" "0" "c.1703G>A" "r.(?)" "p.(Arg568His)" "" "0001027294" "00000084" "10" "1349" "-11" "1349" "-11" "c.1349-11T>G" "r.(=)" "p.(=)" "" "0001027295" "00000084" "30" "171" "0" "171" "0" "c.171C>A" "r.(?)" "p.(=)" "" "0001027296" "00000084" "30" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Val45Leu)" "" "0001027297" "00000084" "30" "82" "-21" "82" "-18" "c.82-21_82-18dup" "r.(=)" "p.(=)" "" "0001043249" "00000084" "30" "3281" "0" "3281" "0" "c.3281G>A" "r.(?)" "p.(Arg1094Gln)" "" "0001043250" "00000084" "50" "3026" "0" "3026" "0" "c.3026A>G" "r.(?)" "p.(Asn1009Ser)" "" "0001043251" "00000084" "30" "2917" "-5" "2917" "-5" "c.2917-5T>C" "r.spl?" "p.?" "" "0001043252" "00000084" "50" "2278" "0" "2278" "0" "c.2278G>A" "r.(?)" "p.(Val760Met)" "" "0001043253" "00000084" "30" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0001043254" "00000084" "50" "1685" "0" "1685" "0" "c.1685A>G" "r.(?)" "p.(His562Arg)" "" "0001043255" "00000084" "30" "1608" "0" "1608" "0" "c.1608C>T" "r.(?)" "p.(Asn536=)" "" "0001043256" "00000084" "30" "1578" "0" "1578" "0" "c.1578C>T" "r.(?)" "p.(Ile526=)" "" "0001043257" "00000084" "30" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Ala424Thr)" "" "0001043258" "00000084" "70" "103" "0" "103" "0" "c.103T>C" "r.(?)" "p.(Phe35Leu)" "" "0001046764" "00000084" "50" "3245" "0" "3245" "0" "c.3245T>C" "r.(?)" "p.(Ile1082Thr)" "" "0001046765" "00000084" "50" "1662" "0" "1662" "0" "c.1662C>A" "r.(?)" "p.(Asp554Glu)" "" "0001047000" "00000084" "70" "3489" "0" "3489" "0" "c.3489del" "r.(?)" "p.(Lys1163AsnfsTer17)" "" "0001047054" "00000084" "30" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Cys66Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1082 "{{screeningid}}" "{{variantid}}" "0000000029" "0000000897" "0000000029" "0000000898" "0000000029" "0000000899" "0000001623" "0000019536" "0000081082" "0000130168" "0000229360" "0000470539" "0000240111" "0000484113" "0000240112" "0000484114" "0000240113" "0000484115" "0000240114" "0000484116" "0000240115" "0000484117" "0000240116" "0000484118" "0000240117" "0000484119" "0000240118" "0000484120" "0000240119" "0000484121" "0000240120" "0000484122" "0000240121" "0000484123" "0000240123" "0000484125" "0000240156" "0000484175" "0000240159" "0000484179" "0000240160" "0000484180" "0000240163" "0000484182" "0000240164" "0000484183" "0000240167" "0000484186" "0000240168" "0000484187" "0000240171" "0000484191" "0000240177" "0000484200" "0000240178" "0000484201" "0000240179" "0000484202" "0000240181" "0000484203" "0000240183" "0000484205" "0000240184" "0000484206" "0000240189" "0000484215" "0000240194" "0000484221" "0000240203" "0000484233" "0000240204" "0000484234" "0000240206" "0000484235" "0000240208" "0000484237" "0000240209" "0000484238" "0000240344" "0000484395" "0000240345" "0000484396" "0000240346" "0000484397" "0000240347" "0000484398" "0000240348" "0000484399" "0000240349" "0000484400" "0000240350" "0000484401" "0000240351" "0000484402" "0000240352" "0000484403" "0000240353" "0000484404" "0000240354" "0000484405" "0000240355" "0000484406" "0000240356" "0000484407" "0000240357" "0000484408" "0000240358" "0000484409" "0000240359" "0000484410" "0000240360" "0000484411" "0000240361" "0000484412" "0000240362" "0000484413" "0000240363" "0000484414" "0000240364" "0000484415" "0000240365" "0000484416" "0000240366" "0000484417" "0000240367" "0000484418" "0000240368" "0000484419" "0000240369" "0000484420" "0000240370" "0000484421" "0000240371" "0000484422" "0000240372" "0000484423" "0000240373" "0000484424" "0000240374" "0000484425" "0000240375" "0000484426" "0000240376" "0000484427" "0000240377" "0000484428" "0000240378" "0000484429" "0000240379" "0000484430" "0000240380" "0000484431" "0000240381" "0000484432" "0000240382" "0000484433" "0000240383" "0000484434" "0000240384" "0000484435" "0000240385" "0000484436" "0000240386" "0000484437" "0000240387" "0000484438" "0000240388" "0000484439" "0000240389" "0000484440" "0000240390" "0000484441" "0000240391" "0000484442" "0000240392" "0000484443" "0000240393" "0000484444" "0000240394" "0000484445" "0000240395" "0000484446" "0000240396" "0000484447" "0000240397" "0000484448" "0000240398" "0000484449" "0000240399" "0000484450" "0000240400" "0000484451" "0000240401" "0000484452" "0000240402" "0000484453" "0000240403" "0000484454" "0000240404" "0000484455" "0000240405" "0000484456" "0000240406" "0000484457" "0000240407" "0000484458" "0000240408" "0000484459" "0000240409" "0000484460" "0000240410" "0000484461" "0000240411" "0000484462" "0000240412" "0000484463" "0000240413" "0000484464" "0000240414" "0000484465" "0000240415" "0000484466" "0000240416" "0000484467" "0000240417" "0000484468" "0000240418" "0000484469" "0000240419" "0000484470" "0000240420" "0000484471" "0000240421" "0000484472" "0000240422" "0000484473" "0000240423" "0000484474" "0000240424" "0000484475" "0000240425" "0000484476" "0000240426" "0000484477" "0000240427" "0000484478" "0000240428" "0000484479" "0000240429" "0000484480" "0000240430" "0000484481" "0000240431" "0000484482" "0000240432" "0000484483" "0000240433" "0000484484" "0000240434" "0000484485" "0000240435" "0000484486" "0000240436" "0000484487" "0000240437" "0000484488" "0000240438" "0000484489" "0000240439" "0000484490" "0000240440" "0000484491" "0000240441" "0000484492" "0000240442" "0000484493" "0000240443" "0000484494" "0000240444" "0000484495" "0000240445" "0000484496" "0000240446" "0000484497" "0000240447" "0000484498" "0000240448" "0000484499" "0000240449" "0000484500" "0000240450" "0000484501" "0000240451" "0000484502" "0000240452" "0000484503" "0000240453" "0000484504" "0000240454" "0000484505" "0000240455" "0000484506" "0000240456" "0000484507" "0000240457" "0000484508" "0000240458" "0000484509" "0000240459" "0000484510" "0000240460" "0000484511" "0000240461" "0000484512" "0000240462" "0000484513" "0000240463" "0000484514" "0000240464" "0000484515" "0000240465" "0000484516" "0000240466" "0000484517" "0000240467" "0000484518" "0000240468" "0000484519" "0000240469" "0000484520" "0000240470" "0000484521" "0000240471" "0000484522" "0000240472" "0000484523" "0000240473" "0000484524" "0000240474" "0000484525" "0000240475" "0000484526" "0000240476" "0000484527" "0000240477" "0000484528" "0000240478" "0000484529" "0000240479" "0000484530" "0000240480" "0000484531" "0000240481" "0000484532" "0000240482" "0000484533" "0000240483" "0000484534" "0000240484" "0000484535" "0000240485" "0000484536" "0000240486" "0000484537" "0000240487" "0000484538" "0000240488" "0000484539" "0000240489" "0000484540" "0000240490" "0000484541" "0000240491" "0000484542" "0000240492" "0000484543" "0000240493" "0000484544" "0000240494" "0000484545" "0000240495" "0000484546" "0000240496" "0000484547" "0000240497" "0000484548" "0000240498" "0000484549" "0000240499" "0000484550" "0000240500" "0000484551" "0000240501" "0000484552" "0000240502" "0000484553" "0000240503" "0000484554" "0000240504" "0000484555" "0000240505" "0000484556" "0000240506" "0000484557" "0000240507" "0000484558" "0000240508" "0000484559" "0000240509" "0000484560" "0000240510" "0000484561" "0000240511" "0000484562" "0000240512" "0000484563" "0000240513" "0000484564" "0000240514" "0000484565" "0000240515" "0000484566" "0000240516" "0000484567" "0000240517" "0000484568" "0000240518" "0000484569" "0000240519" "0000484570" "0000240520" "0000484571" "0000240521" "0000484572" "0000240522" "0000484573" "0000240523" "0000484574" "0000240524" "0000484575" "0000240525" "0000484576" "0000240526" "0000484577" "0000240527" "0000484578" "0000240528" "0000484579" "0000240529" "0000484580" "0000240530" "0000484581" "0000240531" "0000484582" "0000240532" "0000484583" "0000240533" "0000484584" "0000240534" "0000484585" "0000240535" "0000484586" "0000240536" "0000484587" "0000240537" "0000484588" "0000240538" "0000484589" "0000240539" "0000484590" "0000240540" "0000484591" "0000240541" "0000484592" "0000240542" "0000484593" "0000240543" "0000484594" "0000240544" "0000484595" "0000240545" "0000484596" "0000240546" "0000484597" "0000240547" "0000484598" "0000240548" "0000484599" "0000240549" "0000484600" "0000240550" "0000484601" "0000240551" "0000484602" "0000240552" "0000484603" "0000240553" "0000484604" "0000240554" "0000484605" "0000240555" "0000484606" "0000240556" "0000484607" "0000240557" "0000484608" "0000240558" "0000484609" "0000240559" "0000484610" "0000240560" "0000484611" "0000240561" "0000484612" "0000240562" "0000484613" "0000240563" "0000484614" "0000240564" "0000484615" "0000240565" "0000484616" "0000240566" "0000484617" "0000240567" "0000484618" "0000240568" "0000484619" "0000240569" "0000484620" "0000240570" "0000484621" "0000240571" "0000484622" "0000240572" "0000484623" "0000240573" "0000484624" "0000240574" "0000484625" "0000240575" "0000484626" "0000240576" "0000484627" "0000240577" "0000484628" "0000240578" "0000484629" "0000240579" "0000484630" "0000240580" "0000484631" "0000240581" "0000484632" "0000240582" "0000484633" "0000240583" "0000484634" "0000240584" "0000484635" "0000240585" "0000484636" "0000240586" "0000484637" "0000240587" "0000484638" "0000240588" "0000484639" "0000240589" "0000484640" "0000240590" "0000484641" "0000240591" "0000484642" "0000240592" "0000484643" "0000240593" "0000484644" "0000240594" "0000484645" "0000240595" "0000484646" "0000240596" "0000484647" "0000240597" "0000484648" "0000240598" "0000484649" "0000240599" "0000484650" "0000240600" "0000484651" "0000240601" "0000484652" "0000240602" "0000484653" "0000240603" "0000484654" "0000240604" "0000484655" "0000240605" "0000484656" "0000240606" "0000484657" "0000240607" "0000484658" "0000240608" "0000484659" "0000240609" "0000484660" "0000240610" "0000484661" "0000240611" "0000484662" "0000240612" "0000484663" "0000240613" "0000484664" "0000240614" "0000484665" "0000240619" "0000484670" "0000240620" "0000484671" "0000240621" "0000484672" "0000240622" "0000484673" "0000240623" "0000484674" "0000240624" "0000484675" "0000240625" "0000484676" "0000240626" "0000484677" "0000240627" "0000484678" "0000240628" "0000484679" "0000240629" "0000484680" "0000240630" "0000484681" "0000240631" "0000484682" "0000240632" "0000484683" "0000240633" "0000484684" "0000240634" "0000484685" "0000240636" "0000484687" "0000240637" "0000484688" "0000240638" "0000484689" "0000240639" "0000484690" "0000240640" "0000484691" "0000240641" "0000484692" "0000240642" "0000484693" "0000240643" "0000484694" "0000240644" "0000484695" "0000240645" "0000484696" "0000240646" "0000484697" "0000240647" "0000484698" "0000240648" "0000484699" "0000240649" "0000484700" "0000240650" "0000484701" "0000240651" "0000484702" "0000240652" "0000484703" "0000240653" "0000484704" "0000240654" "0000484705" "0000240655" "0000484706" "0000240661" "0000484712" "0000240662" "0000484713" "0000240663" "0000484714" "0000240664" "0000484715" "0000240665" "0000484716" "0000240666" "0000484717" "0000240667" "0000484718" "0000240668" "0000484719" "0000240669" "0000484720" "0000240670" "0000484721" "0000240671" "0000484722" "0000240672" "0000484723" "0000240673" "0000484724" "0000240674" "0000484725" "0000240675" "0000484726" "0000240676" "0000484727" "0000240677" "0000484728" "0000240678" "0000484729" "0000240679" "0000484730" "0000240680" "0000484731" "0000240681" "0000484732" "0000240682" "0000484733" "0000240683" "0000484734" "0000240684" "0000484735" "0000240685" "0000484736" "0000240686" "0000484737" "0000240687" "0000484738" "0000240688" "0000484739" "0000240689" "0000484740" "0000240690" "0000484741" "0000240691" "0000484742" "0000240692" "0000484743" "0000240693" "0000484744" "0000240694" 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