### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAPSN) # 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}}" "RAPSN" "receptor-associated protein of the synapse" "11" "p11.2" "unknown" "NG_008312.1" "UD_132118381137" "" "https://www.LOVD.nl/RAPSN" "" "1" "9863" "5913" "601592" "1" "1" "1" "1" "This database is one of the gene variant databases from the:
We gratefully acknowledge the Hogeschool Leiden, in particular student Marianne Versteeg, for valuable help establishing this database." "" "g" "https://databases.lovd.nl/shared/refseq/RAPSN_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00002" "2011-02-01 00:00:00" "00006" "2019-12-31 15:52:35" "00006" "2025-11-13 13:04:16" ## 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}}" "00025702" "RAPSN" "transcript variant 1" "002" "NM_005055.4" "" "NP_005046.2" "" "" "" "-214" "1457" "1239" "47470730" "47459308" "00006" "2022-04-04 13:22:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{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" "" "" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32" "04639" "CMS11" "myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency (CMS-11)" "AR" "616326" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "05867" "FADS2" "akinesia, fetal, deformation sequence, type 2 (FADS2)" "AR" "618388" "" "" "" "00006" "2020-10-27 12:55:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "RAPSN" "01666" "RAPSN" "04639" "RAPSN" "05867" ## Individuals ## Do not remove or alter this header ## ## Count = 215 "{{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}}" "00000005" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00036644" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036645" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036646" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036647" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036648" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036649" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036650" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036651" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036652" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036653" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036654" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036655" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036656" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036657" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036658" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00078891" "" "" "" "4" "" "01702" "" "family, 2 affecteds, 2 unaffecteds" "M" "yes" "Hong Kong" "" "0" "" "" "" "" "00078892" "" "" "00078891" "2" "" "01702" "" "2 unaffected relatives" "" "" "Hong Kong" "" "0" "" "" "" "" "00154488" "" "" "" "1" "" "02394" "" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00154489" "" "" "" "1" "" "02394" "" "" "F" "no" "Brazil" "16y" "0" "" "" "" "" "00154490" "" "" "" "1" "" "02394" "" "" "" "" "" "" "0" "" "" "" "" "00163650" "" "" "" "1" "" "02440" "" "Fetus, TOP 24th GW" "F" "no" "Germany" "" "0" "yes" "none" "" "" "00213210" "" "" "" "1" "" "00464" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00213211" "" "" "" "1" "" "00464" "" "" "M" "" "Canada" "" "0" "" "" "French-Canadian" "" "00213212" "" "" "" "3" "" "00006" "{PMID:Ohno 2002:11791205}" "3-generation family, sister of 11791205-Pat1b" "F" "" "United States" ">2y6m" "0" "" "" "white" "11791205-Pat1a" "00213213" "" "" "" "1" "" "00006" "{PMID:Ohno 2002:11791205}" "3-generation family, brother of 11791205-Pat1a" "M" "" "United States" "" "0" "" "" "white" "11791205-Pat1b" "00213214" "" "" "" "2" "" "00006" "{PMID:Ohno 2002:11791205}" "" "M" "" "United States" ">2y" "0" "" "" "white" "11791205-Pat2" "00213215" "" "" "" "2" "" "00006" "{PMID:Ohno 2002:11791205}" "" "F" "" "United States" ">27y" "0" "" "" "" "11791205-Pat3" "00213216" "" "" "" "2" "" "00006" "{PMID:Ohno 2002:11791205}" "" "F" "" "United States" ">11y" "0" "" "" "" "11791205-Pat4" "00213217" "" "" "" "19" "" "00006" "{PMID:Ohno 2002:11791205}" "" "" "" "United States" "" "0" "" "" "" "11791205-c" "00213218" "" "" "" "25" "" "00006" "{PMID:Ohno 2002:11791205}" "" "" "" "United States" "" "0" "" "" "" "11791205-c" "00213219" "" "" "" "4" "" "00006" "{PMID:Ohno 2002:11791205}" "" "" "" "United States" "" "0" "" "" "" "11791205-c" "00213220" "" "" "" "25" "" "00006" "{PMID:Ohno 2002:11791205}" "" "" "" "United States" "" "0" "" "" "" "11791205-c" "00213221" "" "" "" "2" "" "00006" "{PMID:Ohno 2003:12651869}" "" "F" "" "United States" "" "0" "" "" "" "12651869-Pt1" "00213222" "" "" "" "2" "" "00006" "{PMID:Ohno 2003:12651869}" "" "" "" "Turkey;Iraq" "" "0" "" "" "Jewish" "12651869-Pt2" "00213223" "" "" "" "2" "" "00006" "{PMID:Ohno 2003:12651869}" "" "" "" "Iran" "" "0" "" "" "Jewish" "12651869-Pt3" "00213224" "" "" "" "2" "" "00006" "{PMID:Ohno 2003:12651869}" "" "" "" "Iraq" "" "0" "" "" "Jewish" "12651869-Pt4" "00213225" "" "" "" "2" "" "00006" "{PMID:Ohno 2003:12651869}" "" "M" "" "Iraq" "" "0" "" "" "Jewish" "12651869-Pt5" "00213226" "" "" "" "3" "" "00006" "{PMID:Ohno 2003:12651869}" "" "" "" "Iraq" "" "0" "" "" "Jewish" "12651869-Pt6" "00213227" "" "" "" "4" "" "00006" "{PMID:Ohno 2003:12651869}" "" "" "" "Iraq" "" "0" "" "" "Jewish" "12651869-Pt7" "00213228" "" "" "" "3" "" "00006" "{PMID:Ohno 2003:12651869}" "" "M" "" "Yemen" "" "0" "" "" "Jewish" "12651869-Pt8" "00213229" "" "" "" "46" "" "00006" "{PMID:Ohno 2003:12651869}" "" "" "" "" "" "0" "" "" "" "12651869-c" "00213230" "" "" "" "1" "" "00513" "{PMID:Muller 2003:12796535}" "" "F" "" "Austria" "" "0" "" "" "" "12796535-Pat1" "00213231" "" "" "" "1" "" "00513" "{PMID:Muller 2003:12796535}" "" "F" "" "Germany" "" "0" "" "" "" "12796535-Pat2" "00213232" "" "" "" "1" "" "00513" "{PMID:Muller 2003:12796535}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "12796535-Pat3" "00213233" "" "" "" "1" "" "00513" "{PMID:Muller 2003:12796535}" "" "M" "" "Germany" "" "0" "" "" "" "12796535-Pat4" "00213234" "" "" "" "1" "" "00513" "{PMID:Muller 2003:12796535}" "" "F" "" "Italy" "" "0" "" "" "" "12796535-Pat5" "00213235" "" "" "" "1" "" "00513" "{PMID:Muller 2003:12796535}" "" "F" "" "Germany" "" "0" "" "" "" "12796535-Pat6" "00213236" "" "" "" "1" "" "00513" "{PMID:Muller 2003:12796535}" "" "M" "" "Germany" "" "0" "" "" "" "12796535-Pat7" "00213237" "" "" "" "1" "" "00513" "{PMID:Muller 2003:12796535}" "affected brother and sister" "M" "" "Germany" "" "0" "" "" "" "12796535-Pat8b" "00213238" "" "" "" "1" "" "00513" "{PMID:Muller 2003:12796535}" "affected brother and sister" "F" "" "Germany" "" "0" "" "" "" "12796535-Pat8s" "00213239" "" "" "" "1" "" "00513" "{PMID:Muller 2003:12796535}" "" "M" "" "Germany" "" "0" "" "" "" "12796535-Pat9" "00213240" "" "" "" "1" "" "00513" "{PMID:Muller 2003:12796535}" "affected brothers" "M" "" "Germany" "" "0" "" "" "" "12796535-Pat10b1" "00213241" "" "" "" "1" "" "00513" "{PMID:Muller 2003:12796535}" "affected brothers" "M" "" "Germany" "" "0" "" "" "" "12796535-Pat10b2" "00213242" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12807980}" "affected brothers" "M" "" "France" "" "0" "" "" "" "12807980-Fam1b1" "00213243" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12807980}" "affected brothers" "M" "" "France" "" "0" "" "" "" "12807980-Fam1b2" "00213244" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12807980}" "" "F" "" "France" "" "0" "" "" "" "12807980-Pat3" "00213245" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12807980}" "" "M" "" "France" "" "0" "" "" "" "12807980-Pat4" "00213246" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12807980}" "" "F" "" "France" "" "0" "" "" "" "12807980-Pat5" "00213247" "" "" "" "2" "" "00006" "{PMID:Maselli 2003:12929188}" "older sibling died at 3m (severe generalized weakness), parents/brother unaffected" "F" "" "" "" "0" "" "" "" "12929188-Pat1" "00213248" "" "" "" "2" "" "00006" "{PMID:Maselli 2003:12929188}" "older sister born with severe weakness and arthrogryposis (died at 7m), parents/younger brother unaffected" "F" "" "" "" "0" "" "" "" "12929188-Pat2" "00213249" "" "" "" "2" "" "00006" "{PMID:Maselli 2003:12929188}" "" "F" "" "" "" "0" "" "" "" "12929188-Pat3" "00213250" "" "" "" "3" "" "00006" "{PMID:Maselli 2003:12929188}" "" "F" "" "" "" "0" "" "" "" "12929188-Pat4" "00213251" "" "" "" "2" "" "00006" "{PMID:Maselli 2003:12929188}" "" "M" "" "" "" "0" "" "" "" "12929188-Pat5" "00213252" "" "" "" "3" "" "00006" "{PMID:Maselli 2003:12929188}" "" "M" "" "" "" "0" "" "" "" "12929188-Pat6" "00213253" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "F" "" "Canada" "" "0" "" "" "" "14504330-Pat1" "00213254" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "F" "" "Canada" "" "0" "" "" "" "14504330-Pat2" "00213255" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "M" "" "Canada" "" "0" "" "" "" "14504330-Pat3" "00213256" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "F" "" "Canada" "" "0" "" "" "" "14504330-Pat4" "00213257" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "F" "" "Canada" "" "0" "" "" "" "14504330-Pat5" "00213258" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "F" "" "Canada" "" "0" "" "" "" "14504330-Pat6" "00213259" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "M" "" "Canada" "" "0" "" "" "" "14504330-Pat7" "00213260" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "M" "" "Canada" "" "0" "" "" "" "14504330-Pat8" "00213261" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "F" "" "Canada" "" "0" "" "" "" "14504330-Pat9" "00213262" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "M" "" "Canada" "" "0" "" "" "" "14504330-Pat10" "00213263" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "M" "" "Canada" "" "0" "" "" "" "14504330-Pat11" "00213264" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "M" "" "Canada" "" "0" "" "" "" "14504330-Pat12" "00213265" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "F" "" "Canada" "" "0" "" "" "" "14504330-Pat13" "00213266" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "M" "" "Canada" "" "0" "" "" "" "14504330-Pat14" "00213267" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "M" "" "Canada" "" "0" "" "" "" "14504330-Pat15" "00213268" "" "" "" "1" "" "00006" "{PMID:Burke 2003:14504330}" "" "M" "" "Canada" "" "0" "" "" "" "14504330-Pat16" "00213269" "" "" "" "1" "" "00006" "{PMID:Ohno 2004:14729848}" "" "" "" "United States" "" "0" "" "" "" "14729848-Pat1" "00213270" "" "" "" "1" "" "00006" "{PMID:Ohno 2004:14729848}" "" "" "" "United States" "" "0" "" "" "" "14729848-Pat2" "00213271" "" "" "" "1" "" "00006" "{PMID:Ohno 2004:14729848}" "" "" "" "United States" "" "0" "" "" "" "14729848-Pat3" "00213272" "" "" "" "1" "" "00006" "{PMID:Ohno 2004:14729848}" "" "" "" "United States" "" "0" "" "" "" "14729848-Pat4" "00213273" "" "" "" "1" "" "00006" "{PMID:Ohno 2004:14729848}" "" "M" "" "United States" "" "0" "" "" "" "14729848-Pat5" "00213274" "" "" "" "1" "" "00006" "{PMID:Ohno 2004:14729848}" "" "" "" "United States" "" "0" "" "" "" "14729848-Pat6" "00213275" "" "" "" "1" "" "00006" "{PMID:Ohno 2004:14729848}" "" "" "" "United States" "" "0" "" "" "" "14729848-Pat7" "00213276" "" "" "" "1" "" "00006" "{PMID:Ohno 2004:14729848}" "" "M" "" "United States" "" "0" "" "" "" "14729848-Pat8" "00213277" "" "" "" "1" "" "00006" "{PMID:Ohno 2004:14729848}" "" "" "" "United States" "" "0" "" "" "" "14729848-Pat9" "00213278" "" "" "" "1" "" "00006" "{PMID:Ohno 2004:14729848}" "" "M" "" "United States" "" "0" "" "" "" "14729848-Pat10" "00213279" "" "" "" "1" "" "00006" "{PMID:Ioos 2004:15328566}" "" "F" "" "France" "" "0" "" "" "" "15328566-Pat1" "00213280" "" "" "" "1" "" "00006" "{PMID:Ioos 2004:15328566}" "sister died (11m during sleep)" "M" "" "France" "" "0" "" "" "" "15328566-Pat2" "00213281" "" "" "" "1" "" "00006" "{PMID:Ioos 2004:15328566}" "" "F" "" "France" "" "0" "" "" "" "15328566-Pat3" "00213282" "" "" "" "1" "" "00006" "{PMID:Muller 2006:16931511}, {OMIM601592:0008}" "first of two children of a german father and czech mother, both of the unaffected parents carried one of the mutations heterozygously" "F" "" "" "" "0" "" "" "" "16931511-Pat1" "00213283" "" "" "" "1" "" "00006" "{PMID:Muller 2006:16931511}, {OMIM601592:0009}" "" "M" "no" "Serbia" "" "0" "" "" "" "16931511-Pat2" "00213284" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat1" "00213285" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat2" "00213286" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat3" "00213287" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat4" "00213288" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat5" "00213289" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat6" "00213290" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat7" "00213291" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat8" "00213292" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat9" "00213293" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat10" "00213294" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat11" "00213295" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat12" "00213296" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat13" "00213297" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat14" "00213298" "" "" "" "1" "" "00006" "{PMID:Cossins 2006:16945936}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16945936-Pat15" "00213299" "" "" "" "1" "" "00006" "{PMID:Maselli 2007:17594401}, {OMIM601592:0010}" "" "F" "" "United States" "" "0" "" "" "" "17594401-Pat" "00213300" "" "" "" "1" "" "00006" "{PMID:Michalk 2008:18252226}, {OMIM601592:0013}" "" "M" "" "Pakistan" "10m" "0" "" "" "" "18252226-RAPSNF1.II4" "00213301" "" "" "" "1" "" "00006" "{PMID:Michalk 2008:18252226}, {OMIM601592:0013}" "" "F" "" "Pakistan" "" "0" "" "" "" "18252226-RAPSNF1.II5" "00213302" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat1" "00213303" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat2" "00213304" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat3" "00213305" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat4" "00213306" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat5" "00213307" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat6" "00213308" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat7" "00213309" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat8" "00213310" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat9" "00213311" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat10" "00213312" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat11" "00213313" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat12" "00213314" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat13" "00213315" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat14" "00213316" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat15" "00213317" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat16" "00213318" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat17" "00213319" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat18" "00213320" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat19" "00213321" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat20" "00213322" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat21" "00213323" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat22" "00213324" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat23" "00213325" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat24" "00213326" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat25" "00213327" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat26" "00213328" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat27" "00213329" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat28" "00213330" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat29" "00213331" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat30" "00213332" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat31" "00213333" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat32" "00213334" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat33" "00213335" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "F" "" "" "" "0" "" "" "" "19620612-Pat34" "00213336" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat35" "00213337" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat36" "00213338" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat37" "00213339" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat38" "00213340" "" "" "" "1" "" "00006" "{PMID:Milone 2009:19620612}" "" "M" "" "" "" "0" "" "" "" "19620612-Pat39" "00213341" "" "" "" "2" "" "00006" "{PMID:Brugnoni 2010:20157724}" "" "F" "" "" "" "0" "" "" "" "20157724-Pat" "00213342" "" "" "" "1" "" "00006" "{PMID:M¸ller 2007:17686188}" "" "" "" "" "" "0" "" "" "" "" "00213343" "" "" "" "1" "" "00006" "{PMID:M¸ller 2007:17686188}" "" "" "" "" "" "0" "" "" "" "" "00213345" "" "" "" "3" "" "00006" "{PMID:Vogt 2008:18179903}" "affected twin fetus" "M" "" "" "" "0" "" "" "" "" "00213346" "" "" "" "1" "" "00006" "{PMID:Skeie 2006:17190963}" "" "M" "" "Norway" "" "0" "" "" "" "" "00213347" "" "" "" "29" "" "00006" "{PMID:Muller 2004:15286164}" "" "" "" "Germany" "" "0" "" "" "" "15286164-c" "00213348" "" "" "" "29" "" "00006" "{PMID:Muller 2004:15286164}" "" "" "" "Germany" "" "0" "" "" "" "15286164-c" "00213349" "" "" "" "29" "" "00006" "{PMID:Muller 2004:15286164}" "" "" "" "Germany" "" "0" "" "" "" "15286164-c" "00213350" "" "" "" "3" "" "00006" "{PMID:Muller 2004:15286164}" "" "" "" "Germany" "" "0" "" "" "" "15286164-c" "00213351" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213352" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213353" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213354" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213355" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213356" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213357" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213358" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213359" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213360" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213361" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213362" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213363" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213364" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213365" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213366" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213367" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213368" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213369" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213370" "" "" "" "1" "" "00006" "{PMID:Michalk 2008:18252226}, {OMIM601592:0013}" "2-generation family, unaffected carrier parent" "" "" "Pakistan" "" "0" "" "" "" "18252226-FamF1p1" "00213371" "" "" "" "1" "" "00006" "{PMID:Michalk 2008:18252226}, {OMIM601592:0014}" "2-generation family, unaffected carrier parent" "" "" "Pakistan" "" "0" "" "" "" "18252226-FamF1p2" "00213372" "" "" "" "1" "" "00464" "" "" "" "" "Canada" "" "0" "" "" "" "" "00213373" "" "" "" "1" "" "00464" "" "" "M" "yes" "(United States)" "" "0" "" "" "Arab" "" "00213374" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" "" "00213375" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "" "00213376" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "" "00213377" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "" "00290445" "" "" "" "39" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290446" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290447" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290448" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295404" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295553" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00301096" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00304310" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307220" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D17-1198" "00314409" "" "" "" "5" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314410" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314411" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00377251" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "360" "00399053" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P112" "00399068" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P140" "00399080" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P160" "00406616" "" "" "" "1" "" "04292" "" "" "F" "" "" "" "" "" "" "" "1" "00406655" "" "" "" "1" "" "04292" "" "" "M" "" "" "" "" "" "" "" "25" "00415980" "" "" "" "1" "" "03652" "" "unaffected heterozygous parents" "M" "no" "Argentina" "" "" "" "pyridostigmine" "" "" "00415999" "" "" "" "1" "" "03652" "" "unaffected heterozygous parents" "M" "no" "Argentina" "" "" "" "pyridostigmine" "" "" "00424147" "" "" "" "1" "" "01479" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00442680" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat52" "00442713" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat85" "00469280" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469281" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469282" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 209 "{{individualid}}" "{{diseaseid}}" "00036645" "00198" "00036646" "00198" "00036649" "00198" "00036651" "00198" "00036652" "00198" "00036653" "00198" "00036654" "00198" "00036656" "00198" "00036657" "00198" "00036658" "00198" "00078891" "04312" "00078892" "00000" "00154488" "04312" "00154489" "04312" "00154490" "04312" "00163650" "00026" "00213210" "01666" "00213211" "04312" "00213212" "04312" "00213213" "04312" "00213214" "04312" "00213215" "04312" "00213216" "04312" "00213217" "04312" "00213218" "04312" "00213219" "04312" "00213220" "04312" "00213221" "04312" "00213222" "04312" "00213223" "04312" "00213224" "04312" "00213225" "04312" "00213226" "04312" "00213227" "04312" "00213228" "04312" "00213229" "00000" "00213230" "04312" "00213231" "04312" "00213232" "04312" "00213233" "04312" "00213234" "04312" "00213235" "04312" "00213236" "04312" "00213237" "04312" "00213238" "04312" "00213239" "04312" "00213240" "04312" "00213241" "04312" "00213242" "04312" "00213243" "04312" "00213244" "04312" "00213245" "04312" "00213246" "04312" "00213247" "04312" "00213248" "04312" "00213249" "04312" "00213250" "04312" "00213251" "04312" "00213252" "04312" "00213253" "04312" "00213254" "04312" "00213255" "04312" "00213256" "04312" "00213257" "04312" "00213258" "04312" "00213259" "04312" "00213260" "04312" "00213261" "04312" "00213262" "04312" "00213263" "04312" "00213264" "04312" "00213265" "04312" "00213266" "04312" "00213267" "04312" "00213268" "04312" "00213269" "04312" "00213270" "04312" "00213271" "04312" "00213272" "04312" "00213273" "04312" "00213274" "04312" "00213275" "04312" "00213276" "04312" "00213277" "04312" "00213278" "04312" "00213279" "04312" "00213280" "04312" "00213281" "04312" "00213282" "04312" "00213283" "04312" "00213284" "04312" "00213285" "04312" "00213286" "04312" "00213287" "04312" "00213288" "04312" "00213289" "04312" "00213290" "04312" "00213291" "04312" "00213292" "04312" "00213293" "04312" "00213294" "04312" "00213295" "04312" "00213296" "04312" "00213297" "04312" "00213298" "04312" "00213299" "04312" "00213300" "01666" "00213301" "01666" "00213302" "04312" "00213303" "04312" "00213304" "04312" "00213305" "04312" "00213306" "04312" "00213307" "04312" "00213308" "04312" "00213309" "04312" "00213310" "04312" "00213311" "04312" "00213312" "04312" "00213313" "04312" "00213314" "04312" "00213315" "04312" "00213316" "04312" "00213317" "04312" "00213318" "04312" "00213319" "04312" "00213320" "04312" "00213321" "04312" "00213322" "04312" "00213323" "04312" "00213324" "04312" "00213325" "04312" "00213326" "04312" "00213327" "04312" "00213328" "04312" "00213329" "04312" "00213330" "04312" "00213331" "04312" "00213332" "04312" "00213333" "04312" "00213334" "04312" "00213335" "04312" "00213336" "04312" "00213337" "04312" "00213338" "04312" "00213339" "04312" "00213340" "04312" "00213341" "04312" "00213342" "04312" "00213343" "04312" "00213345" "01666" "00213346" "04312" "00213347" "00000" "00213348" "00000" "00213349" "00000" "00213350" "00000" "00213351" "04312" "00213352" "04312" "00213353" "04312" "00213354" "04312" "00213355" "04312" "00213356" "04312" "00213357" "04312" "00213358" "04312" "00213359" "04312" "00213360" "04312" "00213361" "04312" "00213362" "04312" "00213363" "04312" "00213364" "04312" "00213365" "04312" "00213366" "04312" "00213367" "04312" "00213368" "04312" "00213369" "04312" "00213370" "00000" "00213371" "00000" "00213372" "04312" "00213373" "04312" "00213374" "01666" "00213375" "04312" "00213376" "04312" "00213377" "04312" "00290445" "00198" "00290446" "00198" "00290447" "00198" "00290448" "00198" "00295404" "00198" "00295553" "00198" "00301096" "00198" "00304310" "00198" "00307220" "00385" "00314409" "05126" "00314410" "05126" "00314411" "05126" "00377251" "04214" "00399053" "05618" "00399068" "05618" "00399080" "05618" "00406616" "04639" "00406655" "04639" "00415980" "04639" "00415999" "04639" "00424147" "04639" "00442680" "05618" "00442713" "05618" "00469280" "00198" "00469281" "00198" "00469282" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00026, 00198, 00385, 01666, 04214, 04312, 04639, 05126, 05618, 05867 ## Count = 190 "{{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}}" "0000058649" "04312" "00078891" "01702" "Familial, autosomal recessive" "" "unable to work due to general weakness" "" "" "" "" "" "" "" "" "" "" "" "0000127225" "04312" "00154489" "02394" "Familial, autosomal recessive" "" "early-onset withe respiratory distress" "" "" "" "" "" "" "" "" "" "" "" "0000127230" "04312" "00154488" "02394" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127231" "04312" "00154490" "02394" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128786" "00026" "00163650" "02440" "Familial, autosomal recessive" "" "Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347)" "" "" "" "" "" "" "" "" "Multiple pterygium syndrome, lethal type" "Fetal akinesia deformation sequence" "" "0000156612" "00198" "00036645" "01164" "Unknown" "" "suspected CMS" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156613" "00198" "00036646" "01164" "Unknown" "" "suspected CMS: since delivery hypotonia, myasthenia, during the day fatigability weakness, pulmonal infections, acute bronchitis" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156614" "00198" "00036649" "01164" "Unknown" "" "hypotonia, developmental delay" "" "" "" "" "" "" "" "" "" "hypotonia" "" "0000156615" "00198" "00036651" "01164" "Unknown" "" "DNA from skin fibroblasts, fetus, termination of pregnancy, hydrops, cleft palate, contactures, pterygiae" "" "" "" "" "" "" "" "" "" "fetal abnormalities" "" "0000156616" "00198" "00036652" "01164" "Unknown" "" "suspected CMS:severe hypotonia with periods of ventilation, ptosis,adequate mental development" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156617" "00198" "00036653" "01164" "Unknown" "" "hypotonia, developmental delay" "" "" "" "" "" "" "" "" "" "hypotonia" "" "0000156618" "00198" "00036654" "01164" "Unknown" "" "hypotonia, developmental delay" "" "" "" "" "" "" "" "" "" "hypotonia" "" "0000156619" "00198" "00036656" "01164" "Unknown" "" "suspected CMS" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" "" "0000156620" "00198" "00036657" "01164" "Unknown" "" "suspected ocular myasthenia; DD CMS, DD mitochondriopathy; MGZ #48843: sero-negative Myasthenie syndrome; MGZ #52958: 2 stillborn sons (6. SSM) with akinesia syndrome; parents are cousins (consanguine in family)" "" "" "" "" "" "" "" "" "" "ocular myasthenia?" "" "0000156621" "00198" "00036658" "01164" "Familial" "" "CMS" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" "" "0000161685" "01666" "00213210" "00464" "Unknown" "" "arthrogryposis, hydrops" "" "" "" "" "" "" "" "" "FADS" "fetal akinesia deformation sequence" "" "0000161686" "04312" "00213211" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161687" "04312" "00213212" "00006" "Unknown" "" "weak fetal movements; neonate-hypotonic,poor suck/cry, ptosis eyelids, ventaltory assistance (1d), first 5m tube feeding; 15m walked, fell frequently; diffusely weak, eyelid ptosis, fatigue easely, Gower\'s sign, high arched palate; walk-15m" "0d" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161688" "04312" "00213213" "00006" "Unknown" "" "phenotype similar to affected sister" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161689" "04312" "00213214" "00006" "Unknown" "" "weak fetal movements; neonate-hypotonic,poor suck/cry, ptosis eyelids;18m-walked, fell frequently; diffusely weak, eyelid ptosis, fatigue easely, Gower\'s sign, high arched palate; walk-18m" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161690" "04312" "00213215" "00006" "Unknown" "" "soft cry, fluctuating eyelid ptosis; 18m-walked, no walk fast/run; several resperatory infections or other intercurrent illnesses, generalized weakness, inability to rise from squatting; walk-18m" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161691" "04312" "00213216" "00006" "Isolated (sporadic)" "" "0d-multiple joint contractures; neonate-weak suck/cry, poorly weight gain; 6m and later minor respiratory infections, increased weakness, respiratory distress requiring ventilation, mild eyelid ptosis, mild weakness cervical torso/limb muscles, excercise-induced fatigue" "0d" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161692" "04312" "00213217" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161693" "04312" "00213218" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161694" "04312" "00213219" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161695" "04312" "00213220" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161696" "04312" "00213221" "00006" "Unknown" "" "mild to moderate fatigable weakness involving eyelid elevator, facial, limb girdle-muscles" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161697" "04312" "00213222" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161698" "04312" "00213223" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161699" "04312" "00213224" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161700" "04312" "00213225" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161701" "04312" "00213226" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161702" "04312" "00213227" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161703" "04312" "00213228" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161704" "00000" "00213229" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000161705" "04312" "00213230" "00513" "Unknown" "" "facial or bulbar weakness, generalized weakness, episodic crisis" "<1m" "" "feeding difficulties, hypotonia" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161706" "04312" "00213231" "00513" "Unknown" "" "fluctuating ptosis, facial or bulbar weakness" "6m" "" "ptosis" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161707" "04312" "00213232" "00513" "Unknown" "" "fluctuating ptosis, facial or bulbar weakness, generalized weakness, episodic crisis" "20y" "" "double vision" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161708" "04312" "00213233" "00513" "Unknown" "" "fluctuating ptosis, facial or bulbar weakness, generalized weakness, episodic crisis with signs of respiratory insufficiency" "<1m" "" "feeding difficulties, hypotonia" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161709" "04312" "00213234" "00513" "Unknown" "" "fluctuating ptosis, facial or bulbar weakness, dysmorphic features, episodic crisis with signs of respiratory insufficiency" "7m" "" "apnea" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161710" "04312" "00213235" "00513" "Unknown" "" "fluctuating ptosis, facial or bulbar weakness, generalized weakness, episodic crisis with signs of respiratory insufficiency" "2y" "" "apnea" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161711" "04312" "00213236" "00513" "Unknown" "" "fluctuating ptosis, generalized weakness, episodic crisis with signs of respiratory insufficiency" "3y" "" "exercise induced weakness" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161712" "04312" "00213237" "00513" "Unknown" "" "fluctuating ptosis, facial or bulbar weakness, generalized weakness, dysmorphic features, episodic crisis with signs of respiratory insufficiency, delayed motor milestones" "<1m" "" "apnea" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161713" "04312" "00213238" "00513" "Unknown" "" "fluctuating ptosis, facial or bulbar weakness, generalized weakness, dysmorphic features, episodic crisis with signs of respiratory insufficiency, delayed motor milestones" "<1m" "" "apnea" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161714" "04312" "00213239" "00513" "Unknown" "" "fluctuating ptosis, facial or bulbar weakness, generalized weakness, dysmorphic features, episodic crisis with signs of respiratory insufficiency, delayed motor milestones" "<1m" "" "feeding difficulties, arthrogryposis multiplex" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161715" "04312" "00213240" "00513" "Unknown" "" "fluctuating ptosis, episodic crisis with signs of respiratory weakness" "<1m" "" "feeding difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161716" "04312" "00213241" "00513" "Unknown" "" "episodic crisis" "3y" "" "ptosis" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161717" "04312" "00213242" "00006" "Unknown" "" "51y-ptosis, neck fatigability" "" "" "fluctuating ptosis" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161718" "04312" "00213243" "00006" "Unknown" "" "43y-ptosis, ophtalmoplegia, limb weakness" "" "" "fluctuating ptosis, limb weakness" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161719" "04312" "00213244" "00006" "Unknown" "" "5m-facial diparesis, hypotonia, limb weakness" "0d" "" "hypotonia, swallowing/sucking disturbances" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161720" "04312" "00213245" "00006" "Unknown" "" "3y-ptosis, fatigability, no limb weakness, open mouth" "<0d" "" "hydramnios, arthrogryposis, hypotonia, respiratory distress, intubating day 1-8" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161721" "04312" "00213246" "00006" "Unknown" "" "7.5y-severe proximal weakness, no unaided walking" "<0d" "" "arthrogryposis, respiratory distress (intubating at birth), feeding problems" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161722" "04312" "00213247" "00006" "Unknown" "" "childhood most wheelchair; 10y-2 corrective surgeries scolliosis; 18y-ptosis, moderate facial weakness (normal pupil and extraocular responses), moderate weakness proximal limbs (normal deep tendon refelexes)" "0d" "" "birth-very hypotonic, very weak breathing/crying; first weeks required tracheotomy, mechanical ventilation, gastrostomy tube feeding" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161723" "04312" "00213248" "00006" "Unknown" "" "19y-macular rash involving neck, trunk, left arm, leg (since birth), mild bilateral ptosis, mild facial weakness, mild generalized reduction muscle power" "0d" "" "hypotonic, arthrogryposis knees/hips, poor suck/cry, required oxygen and frequent suctioning; childhood recurrent respiratory infections, generalized weakness" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161724" "04312" "00213249" "00006" "Unknown" "" "14y-instability to sustain upward gaze; 10y-acute respiratory insufficiency (during flu-like illness) required intubation/mechanical ventilation" "<0d" "" "36w born cesarean section (breech presentation), acute respiratory insufficiency (1d intubation/mechanical ventilation; childhood intermittent ptosis, fatigability (during febrile illnesses)" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161725" "04312" "00213250" "00006" "Unknown" "" "29y-mild bilateral ptosis, paretic nystagmus, wekaness right lateral rectus muscle, mild proximal and distal weakness upper extremities" "3m" "" "episodes abrupt breathing arrest, cyanosis (interpreted as SIDS); childhood intermittent ptosis, lack of endurance during physical activity" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161726" "04312" "00213251" "00006" "Unknown" "" "5y-bilateral ptosis worsening, persistant upward gaze, mild generalized weakness increasing after exercise" "0d" "" "hypotonia and ptosis" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161727" "04312" "00213252" "00006" "Unknown" "" "3y-mild intermittend ptosis" "3m" "" "decreased limb movements, bilaterla ptosis, several episodes severe weakness/respiratory distress (usually associated with upper respiratory infections)" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161728" "04312" "00213253" "00006" "Unknown" "" "arthrogryposis multiplex congenita wirst, ankles, episodic crisis and/or apnea" "0d" "" "bulbar and respiratory difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161729" "04312" "00213254" "00006" "Unknown" "" "arthrogryposis multiplex congenita shoulders, ankles, dysmorphic, episodic crisis and/or apnea" "0d" "" "bulbar and respiratory difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161730" "04312" "00213255" "00006" "Unknown" "" "arthrogryposis multiplex congenita ankles, episodic crisis and/or apnea, high arched palate" "0d" "" "bulbar and respiratory difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161731" "04312" "00213256" "00006" "Unknown" "" "arthrogryposis multiplex congenita fingers, episodic crisis and/or apnea" "0d" "" "bulbar and respiratory difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161732" "04312" "00213257" "00006" "Unknown" "" "arthrogryposis multiplex congenita wrist, elbows, ankles, shoulders, hips, knees, episodic crisis and/or apnea" "0d" "" "bulbar and respiratory difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161733" "04312" "00213258" "00006" "Unknown" "" "arthrogryposis multiplex congenita dysmorphic, episodic crisis and/or apnea" "0d" "" "bulbar and respiratory difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161734" "04312" "00213259" "00006" "Unknown" "" "arthrogryposis multiplex congenita elbows, knees, ankles, dysmorphic, episodic crisis and/or apnea" "0d" "" "bulbar and respiratory difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161735" "04312" "00213260" "00006" "Unknown" "" "arthrogryposis multiplex congenita wrists, hips, ankles, high arched palate, episodic crisis and/or apnea" "0d" "" "bulbar and respiratory difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161736" "04312" "00213261" "00006" "Unknown" "" "arthrogryposis multiplex congenita ankles, high arched palate, episodic crisis and/or apnea" "0d" "" "bulbar difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161737" "04312" "00213262" "00006" "Unknown" "" "arthrogryposis multiplex congenita hips, knees, ankles, episodic crisis and/or apnea" "0d" "" "bulbar and respiratory difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161738" "04312" "00213263" "00006" "Unknown" "" "arthrogryposis multiplex congenita hips, knees, ankles, episodic crisis and/or apnea" "0d" "" "bulbar difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161739" "04312" "00213264" "00006" "Unknown" "" "episodic crisis and/or apnea" "0d" "" "bulbar difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161740" "04312" "00213265" "00006" "Unknown" "" "episodic crisis and/or apnea" "0d" "" "bulbar difficulties" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161741" "04312" "00213266" "00006" "Unknown" "" "late onset, proximal and ankle dorsiflexion weakness, mild ptosis" "13y" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161742" "04312" "00213267" "00006" "Unknown" "" "late onset, generalized limb weakness including ankle dorsiflexion" "21y" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161743" "04312" "00213268" "00006" "Unknown" "" "late onset, proximal and ankle dorsiflexion weakness, mild ptosis" "48y" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161744" "04312" "00213269" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161745" "04312" "00213270" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161746" "04312" "00213271" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161747" "04312" "00213272" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161748" "04312" "00213273" "00006" "Unknown" "" "" "0d" "" "mild-moderate myasthenic symptoms" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161749" "04312" "00213274" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161750" "04312" "00213275" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161751" "04312" "00213276" "00006" "Unknown" "" "" "0d" "" "mild-moderate myasthenic symptoms" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161752" "04312" "00213277" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161753" "04312" "00213278" "00006" "Unknown" "" "" "0d" "" "mild-moderate myasthenic symptoms" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161754" "04312" "00213279" "00006" "Isolated (sporadic)" "" "45d-severe respiratory failure with apnea, bradycardia, hypotonia, required intubation mechanical ventilation; 4m-tracheostomy, gavage feeding due to severe swallowing disturbances; 10m-gastrostomy; 17m-tracheostomy tube removed; 35m gastrostomy removed; 21y-fatigability on exertion difficulties in running, ptosis when tired" "0d" "" "severe generalized hypotonia, no sucking reflex, arthrogryposis hands/feets/hips" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161755" "04312" "00213280" "00006" "Isolated (sporadic)" "" "born with severe arthrogryposis knees/hips, bilateral ptosis, facial paresis, episodes of respiratory failure with apneas occur during febrile illness, no diagnosis made, no treatment; 6m-respiratory distress due (false passage feeding during febrile illness), swallowing disturbances, facial paresis with open mouth, bilateral ptosis; 5y-some masticatory difficulties with fatigability, slight bilateral ptosis, moderate facial paresis with open mouth, symptoms fluctuate and aggrevate during fever episodes, resulting in transitory increase of treatment" "0d" "" "1-8d mechanical ventialtion, arthrogryposis with flexionum of knees, pes varus, facial dysmorphia with retrognathia and plagiocephaly" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161756" "04312" "00213281" "00006" "Isolated (sporadic)" "" "no family history; 7m-gastric tube feeding, jejunostomy, frequent respiratory failures (necessitated tracheostomyat 4m); 30m-treated for vagal hypertonia (severe respiratory failure with cardio respiratory arrest); never walked, axial hypotonia with weakness of cervical muscles and neede to hold her head with her hands; 8y-clear improvement with treatment, could stand up and take some steps alone, mechanical ventilation stopped; 9y-tracheostomy removed; wheelchair bound 7y" "0d" "" "0d-mechanical ventialtion (respiratory distress, bradycardia), generalized hypotonia, bilateral ptosis, arthrogryposis hands/feets, facial dysmorphia (elongated face, prognathia), not able to swallow, gastric tube feeding" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161757" "04312" "00213282" "00006" "Isolated (sporadic)" "" "2d-2 generalized tonic clonic seizures with cyanosis, treated 5d with phenobarbital; 4m-generalized moderate hypotonia, feeding difficulties; 9y-minor contractions extremities, almost normal muscle force, fluctuating ptosis, intermittent double vision, no major restrictionsevery day live" "0d" "" "distinctive facial features, congenital contractures repeated apneic events required nasogastric feeding and continuous positive airways pressure >24h" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161758" "04312" "00213283" "00006" "Isolated (sporadic)" "" "10y-distinctive facial features (elongated face, high arched palate, potrusion of mandibula), mild scoliosis, moderate contractures, mild ptosis without opthalmoparesis, nasal voice, moderate exercise induced weakness predominantly of proximal muscles" "0d" "" "Arthrogryposis, multiplex congenita, generalized hypotonia." "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161759" "04312" "00213284" "00006" "Unknown" "" "mild weakness neck/upper limbs, mild bulbar/ocular symptoms" "0d" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161760" "04312" "00213285" "00006" "Unknown" "" "severe weakness" "0d" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161761" "04312" "00213286" "00006" "Unknown" "" "mild limb weakness, significant bulbar difficulties on neostigmine, requires assisted ventilation at night for nocturnal hypoventilation" "0d" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161762" "04312" "00213287" "00006" "Unknown" "" "mild weakness, moderate impairment activities daily living" "0d" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161763" "04312" "00213288" "00006" "Unknown" "" "mild weakness, moderate impairment activities daily living" "0d" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161764" "04312" "00213289" "00006" "Unknown" "" "little/no weakness with pyridostigmine treatment" "0d" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161765" "04312" "00213290" "00006" "Unknown" "" "little/no weakness with pyridostigmine treatment" "0d" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161766" "04312" "00213291" "00006" "Unknown" "" "little/no weakness with pyridostigmine treatment" "0d" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161767" "04312" "00213292" "00006" "Unknown" "" "little/no weakness with pyridostigmine treatment" "0d" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161768" "04312" "00213293" "00006" "Unknown" "" "little/no weakness with pyridostigmine treatment" "0d" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161769" "04312" "00213294" "00006" "Unknown" "" "little/no weakness with pyridostigmine treatment" "0d" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161770" "04312" "00213295" "00006" "Unknown" "" "little/no weakness with pyridostigmine treatment" "26y" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161771" "04312" "00213296" "00006" "Unknown" "" "little/no weakness with pyridostigmine treatment" "48y" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161772" "04312" "00213297" "00006" "Unknown" "" "little/no weakness with pyridostigmine treatment" "21y" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161773" "04312" "00213298" "00006" "Unknown" "" "little/no weakness with pyridostigmine treatment" "41y" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161774" "04312" "00213299" "00006" "Unknown" "" "16m-normal cognition, bilateral ptosis, normal ocular movements, mild facial/proximal limb weakness" "0d" "" "hypotonic, required mechanical ventilation/gastric tube feeding" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161775" "01666" "00213300" "00006" "Isolated (sporadic)" "" "faciocranial dysmorphism, high arched palate, downslanting palpebral fissures, hypertelorism, micrognathia, low-set ears, hypotonia, contractures" "<0d" "" "respiratory/feeding problems, cryptorchism, decreased movements, joint contractures" "" "" "" "" "" "FADS" "fetal akinesia deformation sequence" "" "0000161776" "01666" "00213301" "00006" "Isolated (sporadic)" "" "faciocranial dysmorphism, jigh arched palate, cleft palate, downslanting palpebral fissures, hypertelorism, micrognathia, low-set ears, hypotonia, contractures" "<0d" "" "respiratory/feeding problems, weak cry, decreased movements, joint contractures" "" "" "" "" "" "FADS" "fetal akinesia deformation sequence" "" "0000161777" "04312" "00213302" "00006" "Unknown" "" "Mild ptosis, mild facial weakness, mild bulbar weakness, moderate cervical weakness, moderate/ mild proximal/ distal weakness, episodic worsenings, delayed motor development" "0d" "" "ptosis, weak cry/ suck" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161778" "04312" "00213303" "00006" "Unknown" "" "Mild ptosis, moderate facial weakness, mild bulbar weakness, severe cervical weakness, mild proximal/ distal weakness, episodic worsenings, delayed motor development" "0d" "" "Respiratory insufficiency, arthrogryposis" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161779" "04312" "00213304" "00006" "Unknown" "" "Moderate ptosis, moderate facial weakness, moderate bulbar weakness, moderate cervical weakness, moderate/ mild proximal/ distal weakness, delayed motor development" "0d" "" "Weak cry/ suck, hypotonia" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161780" "04312" "00213305" "00006" "Unknown" "" "Moderate ptosis, severe facial weakness, moderate bulbar weakness, moderate cervical weakness, moderate/ mild proximal/ distal weakness, delayed motor development" "0d" "" "Weak cry/ suck, respiratory insufficiency" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161781" "04312" "00213306" "00006" "Unknown" "" "Ptosis, episodic ophthalmoparesis, episodic facial weakness, severe, cervical weakness, episodic worsenings" "<1y" "" "Respiratory crisis" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161782" "04312" "00213307" "00006" "Unknown" "" "" "0d" "" "Hypotonia, weak cry" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161783" "04312" "00213308" "00006" "Unknown" "" "Episodic ptosis, episodic facial weakness, episodic bulbar weakness, cervical weakness, proximal/ distal weakness, episodic worsenings, delayed motor developments" "0d" "" "Weak suck" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161784" "04312" "00213309" "00006" "Unknown" "" "Ptosis, facial weakness, bulbar weakness, moderate/ mild proximal/ distal weakness, episodic worsenings, delayed motor development" "0d" "" "Respiratory distress, arthrogryposis" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161785" "04312" "00213310" "00006" "Unknown" "" "Ptosis, bulbar weakness, cervical weakness, proximal/ distal weakness" "2y" "" "Generalized weakness with meningitis" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161786" "04312" "00213311" "00006" "Unknown" "" "Ptosis, episodic ophthalmoparesis, facial weakness, cervical weakness, proximal weakness, episodic worsenings" "3m" "" "Episodic respiratory distress" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161787" "04312" "00213312" "00006" "Unknown" "" "Episodic ophthalmoparesis, mild facial weakness, mild bulbar weakness, mild proximal/ distal weakness, episodic worsenings" "0d" "" "Episodic dyspnea, feeding difficulty" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161788" "04312" "00213313" "00006" "Unknown" "" "Moderate asemmetric ptosis, episodic worsenings, delayed motor development" "0d" "" "Weak cry" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161789" "04312" "00213314" "00006" "Unknown" "" "Mild ptosis, mild facial weakness, mild bulbar weakness, mild proximal weakness, episodic worsenings, delayed motor developments" "0d" "" "Weak suck, feeding difficulty, arthrogryposis" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161790" "04312" "00213315" "00006" "Unknown" "" "Episodic ptosis, bulbar weakness, cervical weakness, proximal/ distal weakness, episodic worsenings, delayed motor developments" "0d" "" "Weak cry/ suck" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161791" "04312" "00213316" "00006" "Unknown" "" "Mild ptosis, moderate facial weakness, cervical weakness, proximal weakness, episodic worsenings, delayed motor developments" "3m" "" "Ptosis, open mouth, poor head control" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161792" "04312" "00213317" "00006" "Unknown" "" "Moderate ptosis, severe facial weakness, bulbar weakness, mild cervical weakness, mild proximal/ distal weakness" "0d" "" "Ptosis" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161793" "04312" "00213318" "00006" "Unknown" "" "Episodic ptosis, episodic bulbar wekaness, episodic worsenings" "0d" "" "Weak cry/ suck, respiratory distress" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161794" "04312" "00213319" "00006" "Unknown" "" "Ptosis, episodic ophthalmoparesis, facial weakness, proximal weakness" "0d" "" "Weak suck, choking spells" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161795" "04312" "00213320" "00006" "Unknown" "" "Severe ptosis, moderate facial weakness, bulbar weakness, mild cervical weakness" "2y" "" "Ptosis, chewing/ speech fatigability" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161796" "04312" "00213321" "00006" "Unknown" "" "Moderate ptosis, severe facial weakness, bulbar weakness, mild cervical weakness" "2m" "" "Ptosis, weak suck" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161797" "04312" "00213322" "00006" "Unknown" "" "Moderate ptosis, severe facial weakness, bulbar weakness, proximal weakness" "0d" "" "Ptosis" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161798" "04312" "00213323" "00006" "Unknown" "" "Moderate ptosis, moderate facial weakness, bulbar weakness" "<2y" "" "Recurrent aspirations" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161799" "04312" "00213324" "00006" "Unknown" "" "Moderate ptosis, moderate facial weakness, bulbar weakness" "9m" "" "Ptosis, recurrent aspirations" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161800" "04312" "00213325" "00006" "Unknown" "" "Moderate ptosis, severe facial weakness, bulbar weakness" "0d" "" "Weak suck" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161801" "04312" "00213326" "00006" "Unknown" "" "Moderate ptosis, moderate facial weakness, bulbar weakness" "1m" "" "Breathing difficulties, ptosis" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161802" "04312" "00213327" "00006" "Unknown" "" "Ptosis, delayed motor development, no data on the rest" "0d" "" "Ptosis, ophtalmoparesis, hypotonia" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161803" "04312" "00213328" "00006" "Unknown" "" "Moderate asymmetric ptosis, moderate facial weakness, severe bulbar weakness, moderate cervical weakness, moderate proximal/ distal weakness, episodic worsenings" "0d" "" "Weak cry/ suck, respiratory distress, arthrogryposis, facial assemetry" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161804" "04312" "00213329" "00006" "Unknown" "" "Severe ptosis, mild ophthalmoparesis, facial weakness, proximal weakness, delayed motor development" "0d" "" "Weak cry/ suck, hypotonia, arthrogryposis, small jaw" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161805" "04312" "00213330" "00006" "Unknown" "" "" "0d" "" "Respiratory distress, hypotonia, arthrogryposis, small chin" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161806" "04312" "00213331" "00006" "Unknown" "" "Episodic bulbar weakness, severe cervical weakness, proximal weakness, episodic worsenings, delayed motor development" "9m" "" "Episodic respiratory insufficiency" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161807" "04312" "00213332" "00006" "Unknown" "" "Asymmetric ptosis, ophthalmoparesis, mild facial weakness, mild distal weakness, episodic worsenings, delayed motor development" "0d" "" "Arthrogryposis, hypotonia" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161808" "04312" "00213333" "00006" "Unknown" "" "Ptosis, severe proximal weakness, episodic worsenings, delayed motor developments" "0d" "" "Weak suck" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161809" "04312" "00213334" "00006" "Unknown" "" "Moderate ptosis, mild ophthalmoparesis, moderate facial weakness, episodic worsenings, delayed motor developments" "0d" "" "Weak suck, hypotonia" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161810" "04312" "00213335" "00006" "Unknown" "" "Mild ptosis, moderate ophthalmoparesis, moderate facial weakness, severe bulbar weakness, mild cervical weakness, moderate/ mild proximal/ distal weakness, episodic worsenings, delayed motor development" "0d" "" "Ptosis, respiratory insufficiency" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161811" "04312" "00213336" "00006" "Unknown" "" "Mild asymmetric ptosis, episodic facial weakness, episodic bulbar weakness, mild cervical weakness, mild proximal/ distal weakness, episodic worsenings, delayed motor developments" "0d" "" "Weak cry, respiratory distress" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161812" "04312" "00213337" "00006" "Unknown" "" "Ptosis, episodic worsenings, delayed motor developments, no data on rest" "0d" "" "Respiratory insufficiency, hypotonia" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161813" "04312" "00213338" "00006" "Unknown" "" "Episodic ptosis, moderate facial weakness, moderate bulbar weakness, severe cervical weakness, proximal/ mild distal weakness, episodic worsenings, delayed motor developments" "0d" "" "Respiratory insufficiency, hypotonia" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161814" "04312" "00213339" "00006" "Unknown" "" "Mild proximal weakness" "0d" "" "Fatigability" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161815" "04312" "00213340" "00006" "Unknown" "" "Mild ptosis, mild ophthalmoparesis, mild facial weakness, mild bulbar weakness, severe cervical weakness, severe/ mild proximal/ distal weakness" "0d" "" "Arthrogryposis" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161816" "04312" "00213341" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161817" "04312" "00213342" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161818" "04312" "00213343" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161820" "01666" "00213345" "00006" "Unknown" "" "lethal" "<0d" "" "" "" "" "" "" "" "FADS" "fetal akinesia deformation sequence" "" "0000161821" "04312" "00213346" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161822" "04312" "00213351" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161823" "04312" "00213352" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161824" "04312" "00213353" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161825" "04312" "00213354" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161826" "04312" "00213355" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161827" "04312" "00213356" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161828" "04312" "00213357" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161829" "04312" "00213358" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161830" "04312" "00213359" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161831" "04312" "00213360" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161832" "04312" "00213361" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161833" "04312" "00213362" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161834" "04312" "00213363" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161835" "04312" "00213364" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161836" "04312" "00213365" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161837" "04312" "00213366" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161838" "04312" "00213367" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161839" "04312" "00213368" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161840" "04312" "00213369" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161841" "04312" "00213372" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-11" "congenitnal myasthenic syndrome" "" "0000161842" "04312" "00213373" "00464" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CMS-11" "congenitnal myasthenic syndrome" "" "0000161843" "01666" "00213374" "00464" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "FADS" "fetal akinesia deformation sequence" "" "0000161844" "04312" "00213375" "00464" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161845" "04312" "00213376" "00464" "Familial, autosomal recessive" "" "progessive weakness, fatigability, ptosis, respiratory decline" "" "" "" "type 1 fiber predominance on muscle biopsy" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000161846" "04312" "00213377" "00464" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CMS-11" "myasthenic syndrome, congenital" "" "0000223118" "00198" "00295553" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Gowers sign (HP:0003391); Hyperhidrosis (HP:0000975); Muscular hypotonia (HP:0001252); Short stature (HP:0004322); Behavioral abnormality (HP:0000708); Exercise-induced muscle fatigue (HP:0009020)" "" "" "" "" "" "" "" "" "" "" "" "0000228401" "00198" "00301096" "01164" "Unknown" "" "Abnormality of the musculature of the neck (HP:0011006); Abnormal eye physiology (HP:0012373); Neck muscle weakness (HP:0000467); Ptosis (HP:0000508)" "" "" "" "" "" "" "" "" "" "" "" "0000233025" "00385" "00307220" "00534" "Familial, autosomal recessive" "" "arthrogryposis multiplex congenita bilateral talipes equinovarus; contractures joints lower limbs (knee, hip); elbow flexion contracture (mild); respiratory insufficiency; sleep disturbance" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000272409" "04214" "00377251" "00000" "Familial, X-linked recessive" "34y" "see paper; ..." "15y" "24y" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000292141" "05618" "00399053" "00006" "Unknown" "" "fatigability" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" "" "0000292156" "05618" "00399068" "00006" "Unknown" "" "ptosis, diplopia, fatigability,muscle weakness and nasal voice" "32y" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" "" "0000292168" "05618" "00399080" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" "" "0000307756" "04639" "00415980" "03652" "Familial, autosomal recessive" "09y06m" "HP:0000276 Long face\r\nHP:0000218 High palate\r\nHP:0000508 Ptosis\r\nHP:0000338 Hypomimic face \r\nHP:0001252 Hypotonia\r\nHP:0002098 Respiratory distress (neonatal)\r\nHP:0003388 Easy fatigability\r\nHP:0002650 Scoliosis (mild)\r\nHP:0001558 Decreased fetal movement\r\nHP:0001388 Joint laxity \r\nPositive response to pyridostigmine" "" "06y06m" "Neonatal onset HP:0003623" "" "" "" "" "" "CMS11 (#616326)" "" "" "0000307765" "04639" "00415999" "03652" "Familial, autosomal recessive" "04y04m" "HP:0000431 Wide nasal bridge\r\nHP:0001252 Hypotonia\r\nHP:0000508 Ptosis\r\nHP:0000276 Long face\r\nHP:0000218 High palate\r\nHP:0001558 Decreased fetal movement\r\nHP:0001324 Muscle weakness\r\nretraction of Achilles\r\npositive response to pyridostigmine" "" "04y04m" "" "" "" "" "" "" "CMS11 (#616326)" "" "" "0000332027" "05618" "00442680" "00006" "Familial, autosomal recessive" "9y" "Diffuse muscle weakness (neonatal hypotonia), ptosis and muscle contractions (especially at the fingers) with respiratory insufficiency; muscle biopsy: dystrophic with mild neurogenic properties; CK = 65 U/l" "0y" "" "" "" "" "" "" "" "" "Distal muscle weakness" "" "0000332060" "05618" "00442713" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000354433" "00198" "00469280" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculature" "" "0000354434" "00198" "00469281" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculature" "" "0000354435" "00198" "00469282" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 215 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000005" "00000005" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000036714" "00036644" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036715" "00036645" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036716" "00036646" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036717" "00036647" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036718" "00036648" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036719" "00036649" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036720" "00036650" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036721" "00036651" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036722" "00036652" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036723" "00036653" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036724" "00036654" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036725" "00036655" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036726" "00036656" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036727" "00036657" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036728" "00036658" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" 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19:44:12" "SEQ" "DNA" "" "" "0000214416" "00213346" "1" "00006" "00006" "2011-11-05 12:10:31" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214417" "00213347" "1" "00006" "00006" "2011-11-05 12:10:31" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214418" "00213348" "1" "00006" "00006" "2011-11-05 12:10:31" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000214419" "00213349" "1" "00006" "00006" "2011-11-05 12:10:31" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000214420" "00213350" "1" "00006" "00006" "2011-11-05 12:10:31" "00006" "2013-02-01 19:44:12" "PCRdig" "DNA" "" "" "0000214421" "00213351" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214422" "00213352" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214423" "00213353" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214424" "00213354" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214425" "00213355" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214426" "00213356" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214427" "00213357" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214428" "00213358" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214429" "00213359" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214430" "00213360" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214431" "00213361" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214432" "00213362" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214433" "00213363" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214434" "00213364" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214435" "00213365" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214436" "00213366" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214437" "00213367" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214438" "00213368" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214439" "00213369" "1" "00513" "00006" "2011-12-23 18:50:47" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214440" "00213370" "1" "00006" "00006" "2011-11-05 12:10:31" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214441" "00213371" "1" "00006" "00006" "2011-11-05 12:10:31" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000214442" "00213372" "1" "00464" "00006" "2012-02-22 18:32:53" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000214443" "00213373" "1" "00464" "00006" "2012-09-28 22:44:05" "" "" "PCR;SEQ" "DNA" "" "" "0000214444" "00213374" "1" "00464" "00006" "2012-10-17 19:51:23" "00006" "2012-10-19 14:26:42" "PCR;SEQ" "DNA" "" "" "0000214445" "00213375" "1" "00464" "00006" "2012-11-20 16:43:08" "00006" "2013-01-26 17:54:58" "PCR;SEQ" "DNA" "" "" "0000214446" "00213376" "1" "00464" "00006" "2012-11-20 16:56:41" "00006" "2013-01-26 17:55:17" "PCR;SEQ" "DNA" "" "" "0000214447" "00213377" "1" "00464" "00006" "2013-03-27 16:10:05" "00006" "2013-03-29 11:00:38" "PCR;SEQ" "DNA" "" "" "0000291613" "00290445" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291614" "00290446" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291615" "00290447" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291616" "00290448" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296572" "00295404" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296723" "00295553" "1" "01164" "01164" "2020-03-18 10:47:50" "" "" "SEQ-NG-S" "DNA" "" "" "0000302218" "00301096" "1" "01164" "01164" "2020-05-07 10:12:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000305439" "00304310" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308362" "00307220" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000315582" "00314409" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315583" "00314410" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315584" "00314411" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000378456" "00377251" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000400298" "00399053" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400313" "00399068" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400325" "00399080" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000407859" "00406616" "1" "04292" "04292" "2022-04-02 19:03:11" "00006" "2022-04-04 13:30:48" "SEQ" "DNA" "" "" "0000407902" "00406655" "1" "04292" "04292" "2022-04-03 15:10:58" "00006" "2022-04-04 13:55:18" "SEQ" "DNA" "" "" "0000417265" "00415980" "1" "03652" "03652" "2022-08-19 15:40:46" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel" "0000417279" "00415999" "1" "03652" "03652" "2022-08-19 21:19:51" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel" "0000425458" "00424147" "1" "01479" "01479" "2022-11-16 16:14:25" "" "" "SEQ-NG" "DNA" "" "" "0000444164" "00442680" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444197" "00442713" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470948" "00469280" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470949" "00469281" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470950" "00469282" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 220 "{{screeningid}}" "{{geneid}}" "0000000005" "ACADM" "0000000005" "ATP7B" "0000000005" "CFTR" "0000000005" "ETFB" "0000000005" "GLB1" "0000000005" "MEFV" "0000000005" "NHLRC1" "0000000005" "PKHD1" "0000000005" "RAPSN" "0000000005" "SERPINA1" "0000000005" "SLC26A2" "0000000005" "USH2A" "0000036714" "RAPSN" "0000036715" "RAPSN" "0000036716" "RAPSN" "0000036717" "RAPSN" "0000036718" "RAPSN" "0000036719" "RAPSN" "0000036720" "RAPSN" "0000036721" "RAPSN" "0000036722" "RAPSN" "0000036723" "RAPSN" "0000036724" "RAPSN" "0000036725" "RAPSN" "0000036726" "RAPSN" "0000036727" "RAPSN" "0000036728" "RAPSN" "0000079079" "AKD1" "0000079079" "RAPSN" "0000079080" "AKD1" "0000079080" "RAPSN" "0000155348" "RAPSN" "0000155349" "RAPSN" "0000155350" "RAPSN" "0000164515" "CHRNA1" "0000164515" "CHRNB1" "0000164515" "CHRND" "0000164515" "CHRNE" "0000164515" "CHRNG" "0000164515" "CNTN1" "0000164515" "DOK7" "0000164515" "KLHL40" "0000164515" "MTM1" "0000164515" "MUSK" "0000164515" "NALCN" "0000164515" "RAPSN" "0000164515" "UBA1" "0000214280" "RAPSN" "0000214281" "RAPSN" "0000214282" "RAPSN" "0000214283" "RAPSN" "0000214284" "RAPSN" "0000214285" "RAPSN" "0000214286" "RAPSN" "0000214287" "RAPSN" "0000214288" "RAPSN" "0000214289" "RAPSN" "0000214290" "RAPSN" "0000214291" "RAPSN" "0000214292" "RAPSN" "0000214293" "RAPSN" "0000214294" "RAPSN" "0000214295" "RAPSN" "0000214296" "RAPSN" "0000214297" "RAPSN" "0000214298" "RAPSN" "0000214299" "RAPSN" "0000214300" "RAPSN" "0000214301" "RAPSN" "0000214302" "RAPSN" "0000214303" "RAPSN" "0000214304" "RAPSN" "0000214305" "RAPSN" "0000214306" "RAPSN" "0000214307" "RAPSN" "0000214308" "RAPSN" "0000214309" "RAPSN" "0000214310" "RAPSN" "0000214311" "RAPSN" "0000214312" "RAPSN" "0000214313" "RAPSN" "0000214314" "RAPSN" "0000214315" "RAPSN" "0000214316" "RAPSN" "0000214317" "RAPSN" "0000214318" "RAPSN" "0000214319" "RAPSN" "0000214320" "RAPSN" "0000214321" "RAPSN" "0000214322" "RAPSN" "0000214323" "RAPSN" "0000214324" "RAPSN" "0000214325" "RAPSN" "0000214326" "RAPSN" "0000214327" "RAPSN" "0000214328" "RAPSN" "0000214329" "RAPSN" "0000214330" "RAPSN" "0000214331" "RAPSN" "0000214332" "RAPSN" "0000214333" "RAPSN" "0000214334" "RAPSN" "0000214335" "RAPSN" "0000214336" "RAPSN" "0000214337" "RAPSN" "0000214338" "RAPSN" "0000214339" "RAPSN" "0000214340" "RAPSN" "0000214341" "RAPSN" "0000214342" "RAPSN" "0000214343" "RAPSN" "0000214344" "RAPSN" "0000214345" "RAPSN" "0000214346" "RAPSN" "0000214347" "RAPSN" "0000214348" "RAPSN" "0000214349" "RAPSN" "0000214350" "RAPSN" "0000214351" "RAPSN" "0000214352" "RAPSN" "0000214353" "RAPSN" "0000214354" "RAPSN" "0000214355" "RAPSN" "0000214356" "RAPSN" "0000214357" "RAPSN" "0000214358" "RAPSN" "0000214359" "RAPSN" "0000214360" "RAPSN" "0000214361" "RAPSN" "0000214362" "RAPSN" "0000214363" "RAPSN" "0000214364" "RAPSN" "0000214365" "RAPSN" "0000214366" "RAPSN" "0000214367" "RAPSN" "0000214368" "RAPSN" "0000214369" "RAPSN" "0000214370" "RAPSN" "0000214371" "RAPSN" "0000214372" "RAPSN" "0000214373" "RAPSN" "0000214374" "RAPSN" "0000214375" "RAPSN" "0000214376" "RAPSN" "0000214377" "RAPSN" "0000214378" "RAPSN" "0000214379" "RAPSN" "0000214380" "RAPSN" "0000214381" "RAPSN" "0000214382" "RAPSN" "0000214383" "RAPSN" "0000214384" "RAPSN" "0000214385" "RAPSN" "0000214386" "RAPSN" "0000214387" "RAPSN" "0000214388" "RAPSN" "0000214389" "RAPSN" "0000214390" "RAPSN" "0000214391" "RAPSN" "0000214392" "RAPSN" "0000214393" "RAPSN" "0000214394" "RAPSN" "0000214395" "RAPSN" "0000214396" "RAPSN" "0000214397" "RAPSN" "0000214398" "RAPSN" "0000214399" "RAPSN" "0000214400" "RAPSN" "0000214401" "RAPSN" "0000214402" "RAPSN" "0000214403" "RAPSN" "0000214404" "RAPSN" "0000214405" "RAPSN" "0000214406" "RAPSN" "0000214407" "RAPSN" "0000214408" "RAPSN" "0000214409" "RAPSN" "0000214410" "RAPSN" "0000214411" "RAPSN" "0000214412" "RAPSN" "0000214413" "RAPSN" "0000214415" "RAPSN" "0000214416" "RAPSN" "0000214417" "RAPSN" "0000214418" "RAPSN" "0000214419" "RAPSN" "0000214420" "RAPSN" "0000214421" "RAPSN" "0000214422" "RAPSN" "0000214423" "RAPSN" "0000214424" "RAPSN" "0000214425" "RAPSN" "0000214426" "RAPSN" "0000214427" "RAPSN" "0000214428" "RAPSN" "0000214429" "RAPSN" "0000214430" "RAPSN" "0000214431" "RAPSN" "0000214432" "RAPSN" "0000214433" "RAPSN" "0000214434" "RAPSN" "0000214435" "RAPSN" "0000214436" "RAPSN" "0000214437" "RAPSN" "0000214438" "RAPSN" "0000214439" "RAPSN" "0000214440" "RAPSN" "0000214441" "RAPSN" "0000214442" "RAPSN" "0000214443" "RAPSN" "0000214444" "RAPSN" "0000214445" "RAPSN" "0000214446" "RAPSN" "0000214447" "RAPSN" "0000308362" "RAPSN" "0000315582" "RAPSN" "0000315583" "RAPSN" "0000315584" "RAPSN" "0000378456" "RPGR" "0000425458" "RAPSN" ## 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 = 610 "{{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}}" "0000000231" "0" "50" "11" "47469631" "47469631" "subst" "0.00155007" "00002" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47448079G>T" "" "VUS" "" "0000063839" "1" "50" "11" "47470747" "47470747" "subst" "0" "01164" "RAPSN_000074" "g.47470747G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47449195G>A" "" "VUS" "" "0000063840" "1" "90" "11" "47463408" "47463412" "del" "0" "01164" "RAPSN_000078" "g.47463408_47463412del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47441856_47441860del" "" "pathogenic" "" "0000063841" "1" "50" "11" "47459646" "47459646" "del" "0" "01164" "RAPSN_000069" "g.47459646del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47438095del" "" "VUS" "" "0000063842" "1" "90" "11" "47469624" "47469624" "subst" "0" "01164" "RAPSN_000056" "g.47469624G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47448072G>A" "" "pathogenic" "" "0000063843" "1" "10" "11" "47459469" "47459469" "subst" "0.102316" "01164" "RAPSN_000030" "g.47459469G>A" "" "" "" "" "" "Germline" "" "rs45617144" "0" "" "" "g.47437918G>A" "" "benign" "" "0000063844" "1" "10" "11" "47469654" "47469654" "subst" "0.0077825" "01164" "RAPSN_000072" "g.47469654A>G" "" "" "" "" "" "Germline" "" "rs57878668" "0" "" "" "g.47448102A>G" "" "benign" "" "0000063845" "1" "10" "11" "47464284" "47464284" "subst" "0.0161241" "01164" "RAPSN_000079" "g.47464284C>T" "" "" "" "" "" "Germline" "" "rs34625105" "0" "" "" "g.47442732C>T" "" "benign" "" "0000063846" "1" "50" "11" "47464402" "47464402" "subst" "0.000295387" "01164" "RAPSN_000037" "g.47464402G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47442850G>A" "" "VUS" "" "0000063847" "1" "50" "11" "47460353" "47460353" "subst" "0" "01164" "RAPSN_000070" "g.47460353A>C" "" "" "" "" "PolyPhen:possibly damaging.(0,805); Mut.Taster:disea.causing (0,999)" "Germline" "" "" "0" "" "" "g.47438802A>C" "" "VUS" "" "0000063848" "1" "50" "11" "47471187" "47471187" "subst" "0" "01164" "RAPSN_000076" "g.47471187C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47449635C>T" "" "VUS" "" "0000063849" "1" "50" "11" "47471337" "47471337" "subst" "0" "01164" "RAPSN_000077" "g.47471337C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47449785C>G" "" "VUS" "" "0000063850" "1" "50" "11" "47462844" "47462844" "del" "0" "01164" "RAPSN_000080" "g.47462844del" "" "" "" "" "" "Germline" "" "rs10716680" "0" "" "" "" "" "VUS" "" "0000063851" "1" "50" "11" "47471062" "47471062" "subst" "0" "01164" "RAPSN_000075" "g.47471062A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47449510A>G" "" "VUS" "" "0000063852" "1" "10" "11" "47470588" "47470588" "subst" "0" "01164" "RAPSN_000073" "g.47470588G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47449036G>A" "" "benign" "" "0000063853" "1" "50" "11" "47463091" "47463091" "subst" "0" "01164" "RAPSN_000032" "g.47463091G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47441539G>A" "" "VUS" "" "0000126812" "3" "90" "11" "47469404" "47469404" "subst" "0" "01702" "RAPSN_000051" "g.47469404C>T" "" "" "" "" "" "Germline" "no" "" "0" "" "" "g.47447852C>T" "" "pathogenic" "" "0000132210" "3" "90" "11" "47469404" "47469404" "subst" "0" "01702" "RAPSN_000051" "g.47469404C>T" "" "" "" "" "" "Germline" "no" "" "0" "" "" "g.47447852C>T" "" "pathogenic" "" "0000248644" "0" "10" "11" "47460306" "47460306" "subst" "0.664069" "02325" "RAPSN_000007" "g.47460306A>G" "" "" "" "RAPSN(NM_005055.5):c.1143T>C (p.P381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000248645" "0" "10" "11" "47469439" "47469439" "subst" "0.680898" "02325" "RAPSN_000005" "g.47469439A>G" "" "" "" "RAPSN(NM_005055.5):c.456T>C (p.Y152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000297572" "0" "10" "11" "47469717" "47469717" "subst" "0.106649" "02325" "RAPSN_000029" "g.47469717G>A" "" "" "" "RAPSN(NM_005055.5):c.193-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000297573" "0" "90" "11" "47469631" "47469631" "subst" "0.00155007" "02325" "RAPSN_000071" "g.47469631G>T" "" "" "" "RAPSN(NM_005055.4):c.264C>A (p.N88K, p.(Asn88Lys)), RAPSN(NM_005055.5):c.264C>A (p.N88K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000297574" "0" "10" "11" "47463485" "47463485" "del" "0" "02325" "RAPSN_000083" "g.47463485del" "" "" "" "RAPSN(NM_005055.5):c.691-11delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000301377" "0" "10" "11" "47469717" "47469717" "subst" "0.106649" "02326" "RAPSN_000029" "g.47469717G>A" "" "" "" "RAPSN(NM_005055.5):c.193-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000301378" "0" "30" "11" "47464284" "47464284" "subst" "0.0161241" "02326" "RAPSN_000079" "g.47464284C>T" "" "" "" "RAPSN(NM_005055.4):c.614G>A (p.(Arg205Gln)), RAPSN(NM_005055.5):c.614G>A (p.R205Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47442732C>T" "" "likely benign" "" "0000322229" "0" "30" "11" "47464284" "47464284" "subst" "0.0161241" "01804" "RAPSN_000079" "g.47464284C>T" "" "" "" "RAPSN(NM_005055.4):c.614G>A (p.(Arg205Gln)), RAPSN(NM_005055.5):c.614G>A (p.R205Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47442732C>T" "" "likely benign" "" "0000322230" "0" "90" "11" "47469402" "47469402" "subst" "2.88565E-5" "01804" "RAPSN_000010" "g.47469402C>T" "" "" "" "RAPSN(NM_005055.4):c.493G>A (p.(Val165Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47447850C>T" "" "pathogenic" "" "0000322231" "0" "90" "11" "47469631" "47469631" "subst" "0.00155007" "01804" "RAPSN_000002" "g.47469631G>T" "" "" "" "RAPSN(NM_005055.4):c.264C>A (p.N88K, p.(Asn88Lys)), RAPSN(NM_005055.5):c.264C>A (p.N88K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000322232" "0" "30" "11" "47469654" "47469654" "subst" "0.0077825" "01804" "RAPSN_000072" "g.47469654A>G" "" "" "" "RAPSN(NM_005055.4):c.241T>C (p.(Phe81Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47448102A>G" "" "likely benign" "" "0000336843" "0" "10" "11" "47459469" "47459469" "subst" "0.102316" "02327" "RAPSN_000030" "g.47459469G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47437918G>A" "" "benign" "" "0000338187" "0" "10" "11" "47469717" "47469717" "subst" "0.106649" "02327" "RAPSN_000029" "g.47469717G>A" "" "" "" "RAPSN(NM_005055.5):c.193-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000340141" "0" "10" "11" "47460306" "47460306" "subst" "0.664069" "02327" "RAPSN_000007" "g.47460306A>G" "" "" "" "RAPSN(NM_005055.5):c.1143T>C (p.P381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000340142" "0" "10" "11" "47463220" "47463220" "subst" "0.105973" "02327" "RAPSN_000006" "g.47463220C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47441668C>T" "" "benign" "" "0000340143" "0" "10" "11" "47469439" "47469439" "subst" "0.680898" "02327" "RAPSN_000005" "g.47469439A>G" "" "" "" "RAPSN(NM_005055.5):c.456T>C (p.Y152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000341297" "0" "70" "11" "47463427" "47463427" "subst" "0" "02327" "RAPSN_000014" "g.47463427G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47441875G>A" "" "likely pathogenic" "" "0000342833" "0" "50" "11" "47459555" "47459555" "subst" "3.35656E-5" "02327" "RAPSN_000067" "g.47459555G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47438004G>A" "" "VUS" "" "0000343142" "0" "10" "11" "47470345" "47470345" "subst" "0.105048" "02327" "RAPSN_000004" "g.47470345G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47448793G>A" "" "benign" "" "0000343841" "0" "90" "11" "47469631" "47469631" "subst" "0.00155007" "02327" "RAPSN_000002" "g.47469631G>T" "" "" "" "RAPSN(NM_005055.4):c.264C>A (p.N88K, p.(Asn88Lys)), RAPSN(NM_005055.5):c.264C>A (p.N88K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000355066" "21" "70" "11" "47469631" "47469631" "subst" "0.00155007" "02394" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "likely pathogenic" "" "0000355067" "11" "90" "11" "47469402" "47469402" "subst" "2.88565E-5" "02394" "RAPSN_000010" "g.47469402C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47447850C>T" "" "pathogenic" "" "0000355068" "3" "90" "11" "47469631" "47469631" "subst" "0.00155007" "02394" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000355069" "3" "90" "11" "47469631" "47469631" "subst" "0.00155007" "02394" "RAPSN_000002" "g.47469631G>T" "" "" "" "47469402C>T" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000367744" "0" "10" "11" "47460306" "47460306" "subst" "0.664069" "02440" "RAPSN_000007" "g.47460306A>G" "0.68 controls" "" "" "" "" "Unknown" "?" "rs7126210" "0" "" "" "g.47438755A>G" "" "benign" "" "0000367745" "0" "10" "11" "47463220" "47463220" "subst" "0.105973" "02440" "RAPSN_000006" "g.47463220C>T" "0.15 controls" "" "" "" "" "Unknown" "?" "rs45603036" "0" "" "" "g.47441668C>T" "" "benign" "" "0000367746" "0" "10" "11" "47463485" "47463485" "del" "0" "02440" "RAPSN_000016" "g.47463485del" "0.74 controls" "" "" "691-11delC" "" "Unknown" "?" "rs34729771" "0" "" "" "g.47441933del" "" "benign" "" "0000367747" "0" "10" "11" "47469439" "47469439" "subst" "0.680898" "02440" "RAPSN_000005" "g.47469439A>G" "0.71 controls" "" "" "" "" "Unknown" "?" "rs7111873" "0" "" "" "g.47447887A>G" "" "benign" "" "0000367748" "0" "10" "11" "47469717" "47469717" "subst" "0.106649" "02440" "RAPSN_000029" "g.47469717G>A" "0.15 controls" "" "" "" "" "Unknown" "?" "rs45547231" "0" "" "" "g.47448165G>A" "259627" "benign" "" "0000446226" "10" "50" "11" "47460319" "47460319" "subst" "0" "00464" "RAPSN_000055" "g.47460319A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47438768A>G" "" "VUS" "" "0000446227" "20" "50" "11" "47460319" "47460319" "subst" "0" "00464" "RAPSN_000055" "g.47460319A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47438768A>G" "" "VUS" "" "0000446228" "10" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00464" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446229" "20" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00464" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446230" "11" "90" "11" "47470476" "47470476" "subst" "8.12163E-6" "00006" "RAPSN_000001" "g.47470476A>G" "" "{PMID:Ohno 2002:11791205}, {OMIM601592:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.47448924A>G" "" "pathogenic" "" "0000446231" "21" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2002:11791205}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446232" "11" "90" "11" "47470476" "47470476" "subst" "8.12163E-6" "00006" "RAPSN_000001" "g.47470476A>G" "" "{PMID:Ohno 2002:11791205}, {OMIM601592:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.47448924A>G" "" "pathogenic" "" "0000446233" "21" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2002:11791205}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446234" "10" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2002:11791205}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446235" "21" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2002:11791205}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446236" "11" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2002:11791205}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446237" "21" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2002:11791205}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446238" "0" "90" "11" "47464347" "47464351" "dup" "0" "00006" "RAPSN_000003" "g.47464347_47464351dup" "" "{PMID:Ohno 2002:11791205}, {OMIM601592:0003}" "" "553ins5" "" "Germline" "" "" "0" "" "" "g.47442795_47442799dup" "" "pathogenic" "" "0000446239" "21" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2002:11791205}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446240" "0" "10" "11" "47470345" "47470345" "subst" "0.105048" "00006" "RAPSN_000004" "g.47470345G>A" "19/192" "{PMID:Ohno 2002:11791205}" "" "172C/T" "control chromosomes tested" "Germline" "" "" "0" "" "" "g.47448793G>A" "" "benign" "" "0000446241" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "25/34" "{PMID:Ohno 2002:11791205}" "" "456T/C" "control chromosomes tested" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446242" "0" "10" "11" "47463220" "47463220" "subst" "0.105973" "00006" "RAPSN_000006" "g.47463220C>T" "4/34" "{PMID:Ohno 2002:11791205}" "" "855G/A" "control chromosomes tested" "Germline" "" "" "0" "" "" "g.47441668C>T" "" "benign" "" "0000446243" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "25/34" "{PMID:Ohno 2002:11791205}" "" "1143T>C" "control chromosomes tested" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446244" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446245" "1" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "456T/C" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446246" "1" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446247" "1" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446248" "1" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446249" "2" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446250" "2" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446251" "2" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446252" "2" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446253" "2" "90" "11" "47470715" "47470715" "subst" "0" "00006" "RAPSN_000011" "g.47470715G>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-27C>G" "not in 400 normal chromosomes; changes E-box CAGCTG to GAGCTG" "Germline" "" "" "0" "" "" "g.47449163G>C" "" "pathogenic" "" "0000446254" "11" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446255" "11" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446256" "11" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446257" "11" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446258" "11" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446259" "21" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446260" "21" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446261" "21" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446262" "21" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446263" "21" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446264" "10" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446265" "10" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446266" "10" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446267" "10" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446268" "10" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446269" "21" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446270" "21" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446271" "21" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446272" "21" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446273" "21" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446274" "11" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446275" "11" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446276" "11" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446277" "11" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446278" "11" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446279" "21" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446280" "21" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446281" "21" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446282" "21" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446283" "21" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446284" "10" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446285" "10" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446286" "10" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446287" "10" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446288" "10" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446289" "20" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446290" "20" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446291" "20" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446292" "20" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446293" "20" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446294" "10" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446295" "10" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446296" "10" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446297" "10" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446298" "10" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446299" "21" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446300" "21" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446301" "21" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446302" "21" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446303" "21" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446304" "11" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446305" "11" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446306" "11" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446307" "11" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446308" "11" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446309" "21" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446310" "21" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446311" "21" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446312" "21" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446313" "21" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446314" "11" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446315" "11" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446316" "11" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446317" "11" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446318" "11" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446319" "21" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446320" "21" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Ohno 2003:12651869}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446321" "21" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446322" "21" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446323" "21" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Ohno 2003:12651869}, {OMIM601592:0006}" "" "-38A>G" "not in 400 normal chromosomes; changes E-box CAACTG to CAGCTG" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446324" "1" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "46/58" "{PMID:Ohno 2003:12651869}" "" "" "control chromosomes tested" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446325" "1" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "46/58" "{PMID:Ohno 2003:12651869}" "" "" "control chromosomes tested" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446326" "1" "11" "11" "47460098" "47460098" "subst" "0" "00006" "RAPSN_000008" "g.47460098C>T" "46/58" "{PMID:Ohno 2003:12651869}" "" "IVS7+185G/A" "control chromosomes tested" "Germline" "" "" "0" "" "" "g.47438547C>T" "" "benign" "" "0000446327" "1" "11" "11" "47460005" "47460005" "subst" "0" "00006" "RAPSN_000009" "g.47460005T>C" "46/58" "{PMID:Ohno 2003:12651869}" "" "IVS7+278A/G" "control chromosomes tested" "Germline" "" "" "0" "" "" "g.47438454T>C" "" "benign" "" "0000446328" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446329" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446330" "1" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446331" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446332" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446333" "2" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446334" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446335" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446336" "1" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446337" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446338" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446339" "2" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446340" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446341" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446342" "1" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446343" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446344" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446345" "2" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446346" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446347" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446348" "1" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446349" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446350" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446351" "2" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446352" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446353" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446354" "1" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446355" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446356" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446357" "2" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446358" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446359" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446360" "1" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446361" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446362" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446363" "2" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446364" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446365" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446366" "1" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446367" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446368" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446369" "2" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446370" "11" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "BseNI+" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446371" "11" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446372" "11" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446373" "21" "90" "11" "47470510" "47470510" "subst" "0" "00513" "RAPSN_000013" "g.47470510G>T" "" "{PMID:Muller 2003:12796535}" "SduI+" "" "" "Germline" "" "" "0" "" "" "g.47448958G>T" "" "pathogenic" "" "0000446374" "11" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "BseNI+" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446375" "11" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446376" "11" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446377" "21" "90" "11" "47470510" "47470510" "subst" "0" "00513" "RAPSN_000013" "g.47470510G>T" "" "{PMID:Muller 2003:12796535}" "SduI+" "" "" "Germline" "" "" "0" "" "" "g.47448958G>T" "" "pathogenic" "" "0000446378" "11" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "BseNI+" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446379" "11" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446380" "11" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446381" "21" "90" "11" "47463427" "47463427" "subst" "0" "00513" "RAPSN_000014" "g.47463427G>A" "" "{PMID:Muller 2003:12796535}" "SduI+" "" "" "Germline" "" "" "0" "" "" "g.47441875G>A" "" "pathogenic" "" "0000446382" "11" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "BseNI+" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446383" "11" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446384" "11" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446385" "21" "90" "11" "47463203" "47463203" "subst" "1.66849E-5" "00513" "RAPSN_000015" "g.47463203C>T" "" "{PMID:Muller 2003:12796535}" "TaqI+" "" "" "Germline" "" "" "0" "" "" "g.47441651C>T" "" "pathogenic" "" "0000446386" "11" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00513" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Muller 2003:12796535}" "BseNI+" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446387" "11" "10" "11" "47469439" "47469439" "subst" "0.680898" "00513" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Muller 2003:12796535}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446388" "11" "10" "11" "47463485" "47463485" "del" "0" "00513" "RAPSN_000016" "g.47463485del" "" "{PMID:Muller 2003:12796535}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446389" "21" "90" "11" "47463203" "47463203" "subst" "1.66849E-5" "00513" "RAPSN_000015" "g.47463203C>T" "" "{PMID:Muller 2003:12796535}" "TaqI+" "" "" "Germline" "" "" "0" "" "" "g.47441651C>T" "" "pathogenic" "" "0000446390" "11" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Richard 2003:12807980}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446391" "21" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Richard 2003:12807980}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446392" "0" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Richard 2003:12807980}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446393" "0" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Richard 2003:12807980}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446394" "0" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Richard 2003:12807980}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446395" "0" "90" "11" "47469402" "47469402" "subst" "2.88565E-5" "00006" "RAPSN_000010" "g.47469402C>T" "" "{PMID:Richard 2003:12807980}" "" "" "" "Germline" "" "" "0" "" "" "g.47447850C>T" "" "pathogenic" "" "0000446396" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Richard 2003:12807980}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446397" "2" "90" "11" "47463287" "47463287" "subst" "0" "00006" "RAPSN_000017" "g.47463287T>C" "" "{PMID:Richard 2003:12807980}" "" "IVS4-2A>G" "" "Germline" "" "" "0" "" "" "g.47441735T>C" "" "pathogenic" "" "0000446398" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Richard 2003:12807980}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446399" "2" "90" "11" "47460367" "47460368" "dup" "0" "00006" "RAPSN_000018" "g.47460367_47460368dup" "" "{PMID:Richard 2003:12807980}" "" "1083_1084dupCT" "" "Germline" "" "" "0" "" "" "g.47438816_47438817dup" "" "pathogenic" "" "0000446400" "11" "90" "11" "47470476" "47470476" "subst" "8.12163E-6" "00006" "RAPSN_000001" "g.47470476A>G" "" "{PMID:Maselli 2003:12929188}" "" "" "" "Germline" "" "" "0" "" "" "g.47448924A>G" "" "pathogenic" "" "0000446401" "21" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Maselli 2003:12929188}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446402" "11" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Maselli 2003:12929188}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446403" "21" "90" "11" "47470471" "47470471" "dup" "0" "00006" "RAPSN_000019" "g.47470471dup" "" "{PMID:Maselli 2003:12929188}, {OMIM601592:0004}" "" "46insC" "" "Germline" "" "" "0" "" "" "g.47448919dup" "" "pathogenic" "" "0000446404" "11" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Maselli 2003:12929188}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446405" "21" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Maselli 2003:12929188}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446406" "11" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Maselli 2003:12929188}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446407" "21" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Maselli 2003:12929188}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446408" "11" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Maselli 2003:12929188}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446409" "21" "90" "11" "47463268" "47463268" "subst" "4.17112E-6" "00006" "RAPSN_000020" "g.47463268G>T" "" "{PMID:Maselli 2003:12929188}, {OMIM601592:0005}" "" "" "" "Germline" "" "" "0" "" "" "g.47441716G>T" "" "pathogenic" "" "0000446410" "11" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Maselli 2003:12929188}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446411" "21" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Maselli 2003:12929188}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446412" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446413" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446414" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446415" "2" "90" "11" "47470471" "47470471" "dup" "0" "00006" "RAPSN_000019" "g.47470471dup" "" "{PMID:Burke 2003:14504330}" "" "46insC" "" "Germline" "" "" "0" "" "" "g.47448919dup" "" "pathogenic" "" "0000446416" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446417" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446418" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446419" "2" "90" "11" "47464347" "47464351" "dup" "0" "00006" "RAPSN_000003" "g.47464347_47464351dup" "" "{PMID:Burke 2003:14504330}" "" "551insCTGTT" "" "Germline" "" "" "0" "" "" "g.47442795_47442799dup" "" "pathogenic" "" "0000446420" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446421" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446422" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446423" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446424" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446425" "2" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446426" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446427" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446428" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446429" "2" "90" "11" "47460367" "47460367" "subst" "0" "00006" "RAPSN_000021" "g.47460367A>C" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438816A>C" "" "pathogenic" "" "0000446430" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446431" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446432" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446433" "2" "90" "11" "47464347" "47464351" "dup" "0" "00006" "RAPSN_000003" "g.47464347_47464351dup" "" "{PMID:Burke 2003:14504330}" "" "551insCTGTT" "" "Germline" "" "" "0" "" "" "g.47442795_47442799dup" "" "pathogenic" "" "0000446434" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446435" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446436" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446437" "2" "90" "11" "47470476" "47470476" "subst" "8.12163E-6" "00006" "RAPSN_000001" "g.47470476A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47448924A>G" "" "pathogenic" "" "0000446438" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446439" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446440" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446441" "2" "90" "11" "47459587" "47459588" "del" "0" "00006" "RAPSN_000022" "g.47459587_47459588del" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0012}" "" "1177delAA" "" "Germline" "" "" "0" "" "" "g.47438036_47438037del" "" "pathogenic" "" "0000446442" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446443" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446444" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" 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"{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446450" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446451" "2" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446452" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446453" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446454" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446455" "2" "90" "11" "47459587" "47459588" "del" "0" "00006" "RAPSN_000022" "g.47459587_47459588del" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0012}" "" "1177delAA" "" "Germline" "" "" "0" "" "" "g.47438036_47438037del" "" "pathogenic" "" "0000446456" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446457" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446458" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446459" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446460" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446461" "2" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446462" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446463" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446464" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446465" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446466" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446467" "2" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" 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"g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446473" "2" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446474" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446475" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446476" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446477" "2" "90" "11" "47469623" "47469623" "subst" "1.62706E-5" "00006" "RAPSN_000024" "g.47469623C>A" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47448071C>A" "" "pathogenic" "" "0000446478" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446479" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446480" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446481" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446482" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446483" "2" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446484" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446485" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446486" "1" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446487" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Burke 2003:14504330}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446488" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446489" "2" "10" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "" "{PMID:Burke 2003:14504330}" "" "" "" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446490" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446491" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446492" "1" "10" "11" "47463485" "47463485" "del" "0" "00006" "RAPSN_000016" "g.47463485del" "" "{PMID:Ohno 2004:14729848}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446493" "1" "10" "11" "47469717" "47469717" "subst" "0.106649" "00006" "RAPSN_000029" "g.47469717G>A" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000446494" "1" "10" "11" "47459469" "47459469" "subst" "0.102316" "00006" "RAPSN_000030" "g.47459469G>A" "" "{PMID:Ohno 2004:14729848}" "" "1298C>T" "" "Germline" "" "" "0" "" "" "g.47437918G>A" "" "benign" "" "0000446495" "2" "90" "11" "47470715" "47470715" "subst" "0" "00006" "RAPSN_000011" "g.47470715G>C" "" "{PMID:Ohno 2004:14729848}" "" "-27C>G" "" "Germline" "" "" "0" "" "" "g.47449163G>C" "" "pathogenic" "" "0000446496" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446497" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446498" "1" "10" "11" "47463485" "47463485" "del" "0" "00006" "RAPSN_000016" "g.47463485del" "" "{PMID:Ohno 2004:14729848}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446499" "1" "10" "11" "47469717" "47469717" "subst" "0.106649" "00006" "RAPSN_000029" "g.47469717G>A" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000446500" "1" "10" "11" "47459469" "47459469" "subst" "0.102316" "00006" "RAPSN_000030" "g.47459469G>A" "" "{PMID:Ohno 2004:14729848}" "" "1298C>T" "" 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"g.47469717G>A" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000446506" "1" "10" "11" "47459469" "47459469" "subst" "0.102316" "00006" "RAPSN_000030" "g.47459469G>A" "" "{PMID:Ohno 2004:14729848}" "" "1298C>T" "" "Germline" "" "" "0" "" "" "g.47437918G>A" "" "benign" "" "0000446507" "2" "90" "11" "47470476" "47470476" "subst" "8.12163E-6" "00006" "RAPSN_000001" "g.47470476A>G" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448924A>G" "" "pathogenic" "" "0000446508" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446509" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446510" "1" "10" "11" "47463485" "47463485" "del" "0" "00006" "RAPSN_000016" "g.47463485del" "" "{PMID:Ohno 2004:14729848}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446511" "1" "10" "11" "47469717" "47469717" "subst" "0.106649" "00006" "RAPSN_000029" "g.47469717G>A" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000446512" "1" "10" "11" "47459469" "47459469" "subst" "0.102316" "00006" "RAPSN_000030" "g.47459469G>A" "" "{PMID:Ohno 2004:14729848}" "" "1298C>T" "" "Germline" "" "" "0" "" "" "g.47437918G>A" "" "benign" "" "0000446513" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446514" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446515" "2" "10" "11" "47463485" "47463485" "del" "0" "00006" "RAPSN_000016" "g.47463485del" "" "{PMID:Ohno 2004:14729848}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446516" "2" "10" "11" "47469717" "47469717" "subst" "0.106649" "00006" "RAPSN_000029" "g.47469717G>A" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000446517" "2" "10" "11" "47459469" "47459469" "subst" "0.102316" "00006" "RAPSN_000030" "g.47459469G>A" "" "{PMID:Ohno 2004:14729848}" "" "1298C>T" "" "Germline" "" "" "0" "" "" "g.47437918G>A" "" "benign" "" "0000446518" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446519" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446520" "1" "10" "11" "47463485" "47463485" "del" "0" "00006" "RAPSN_000016" "g.47463485del" "" "{PMID:Ohno 2004:14729848}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446521" "1" "10" "11" "47469717" "47469717" "subst" "0.106649" "00006" "RAPSN_000029" "g.47469717G>A" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000446522" "1" "10" "11" "47459469" "47459469" "subst" "0.102316" "00006" "RAPSN_000030" "g.47459469G>A" "" "{PMID:Ohno 2004:14729848}" "" "1298C>T" "" "Germline" "" "" "0" "" "" "g.47437918G>A" "" "benign" "" "0000446523" "2" "90" "11" "47469604" "47469604" "subst" "0" "00006" "RAPSN_000025" "g.47469604G>T" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448052G>T" "" "pathogenic" "" "0000446524" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446525" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446526" "1" "10" "11" "47463485" "47463485" "del" "0" "00006" "RAPSN_000016" "g.47463485del" "" "{PMID:Ohno 2004:14729848}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446527" "1" "10" "11" "47469717" "47469717" "subst" "0.106649" "00006" "RAPSN_000029" "g.47469717G>A" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000446528" "1" "10" "11" "47459469" "47459469" "subst" "0.102316" "00006" "RAPSN_000030" "g.47459469G>A" "" "{PMID:Ohno 2004:14729848}" "" "1298C>T" "" "Germline" "" "" "0" "" "" "g.47437918G>A" "" "benign" "" "0000446529" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446530" "2" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446531" "2" "10" "11" "47463485" "47463485" "del" "0" "00006" "RAPSN_000016" "g.47463485del" "" "{PMID:Ohno 2004:14729848}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446532" "2" "10" "11" "47469717" "47469717" "subst" "0.106649" "00006" "RAPSN_000029" "g.47469717G>A" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000446533" "2" "10" "11" "47459469" "47459469" "subst" "0.102316" "00006" "RAPSN_000030" "g.47459469G>A" "" "{PMID:Ohno 2004:14729848}" "" "1298C>T" "" "Germline" "" "" "0" "" "" "g.47437918G>A" "" "benign" "" "0000446534" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446535" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446536" "1" "10" "11" "47463485" "47463485" "del" "0" "00006" "RAPSN_000016" "g.47463485del" "" "{PMID:Ohno 2004:14729848}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446537" "1" "10" "11" "47469717" "47469717" "subst" "0.106649" "00006" "RAPSN_000029" "g.47469717G>A" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000446538" "1" "10" "11" "47459469" "47459469" "subst" "0.102316" "00006" "RAPSN_000030" "g.47459469G>A" "" "{PMID:Ohno 2004:14729848}" "" "1298C>T" "" "Germline" "" "" "0" "" "" "g.47437918G>A" "" "benign" "" "0000446539" "2" "90" "11" "47464347" "47464351" "dup" "0" "00006" "RAPSN_000003" "g.47464347_47464351dup" "" "{PMID:Ohno 2004:14729848}" "" "553ins5" "" "Germline" "" "" "0" "" "" "g.47442795_47442799dup" "" "pathogenic" "" "0000446540" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446541" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446542" "1" "10" "11" "47463485" "47463485" "del" "0" "00006" "RAPSN_000016" "g.47463485del" "" "{PMID:Ohno 2004:14729848}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446543" "1" "10" "11" "47469717" "47469717" "subst" "0.106649" "00006" "RAPSN_000029" "g.47469717G>A" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000446544" "1" "10" "11" "47459469" "47459469" "subst" "0.102316" "00006" "RAPSN_000030" "g.47459469G>A" "" "{PMID:Ohno 2004:14729848}" "" "1298C>T" "" "Germline" "" "" "0" "" "" "g.47437918G>A" "" "benign" "" "0000446545" "2" "90" "11" "47469443" "47469443" "subst" "0" "00006" "RAPSN_000026" "g.47469443C>G" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47447891C>G" "" "pathogenic" "" "0000446546" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446547" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446548" "1" "10" "11" "47463485" "47463485" "del" "0" "00006" "RAPSN_000016" "g.47463485del" "" "{PMID:Ohno 2004:14729848}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446549" "1" "10" "11" "47469717" "47469717" "subst" "0.106649" "00006" "RAPSN_000029" "g.47469717G>A" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000446550" "1" "10" "11" "47459469" "47459469" "subst" "0.102316" "00006" "RAPSN_000030" "g.47459469G>A" "" "{PMID:Ohno 2004:14729848}" "" "1298C>T" "" "Germline" "" "" "0" "" "" "g.47437918G>A" "" "benign" "" "0000446551" "2" "90" "11" "47460452" "47460452" "subst" "3.04677E-5" "00006" "RAPSN_000027" "g.47460452C>A" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47438901C>A" "" "pathogenic" "" "0000446552" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446553" "1" "10" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446554" "1" "10" "11" "47463485" "47463485" "del" "0" "00006" "RAPSN_000016" "g.47463485del" "" "{PMID:Ohno 2004:14729848}" "" "IVS3-11delC" "" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446555" "1" "10" "11" "47469717" "47469717" "subst" "0.106649" "00006" "RAPSN_000029" "g.47469717G>A" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47448165G>A" "" "benign" "" "0000446556" "1" "10" "11" "47459469" "47459469" "subst" "0.102316" "00006" "RAPSN_000030" "g.47459469G>A" "" "{PMID:Ohno 2004:14729848}" "" "1298C>T" "" "Germline" "" "" "0" "" "" "g.47437918G>A" "" "benign" "" "0000446557" "2" "90" "11" "47469470" "47469470" "subst" "8.18632E-6" "00006" "RAPSN_000028" "g.47469470G>T" "" "{PMID:Ohno 2004:14729848}" "" "" "" "Germline" "" "" "0" "" "" "g.47447918G>T" "" "pathogenic" "" "0000446558" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ioos 2004:15328566}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446559" "2" "90" "11" "47469637" "47469637" "subst" "0" "00006" "RAPSN_000031" "g.47469637G>T" "" "{PMID:Ioos 2004:15328566}" "" "" "" "Germline" "" "" "0" "" "" "g.47448085G>T" "" "pathogenic" "" "0000446560" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ioos 2004:15328566}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446561" "2" "90" "11" "47460367" "47460368" "dup" "0" "00006" "RAPSN_000018" "g.47460367_47460368dup" "" "{PMID:Ioos 2004:15328566}" "" "" "" "Germline" "" "" "0" "" "" "g.47438816_47438817dup" "" "pathogenic" "" "0000446562" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ioos 2004:15328566}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446563" "2" "90" "11" "47463287" "47463287" "subst" "0" "00006" "RAPSN_000017" "g.47463287T>C" "" "{PMID:Ioos 2004:15328566}" "" "IVS4-2A>G" "" "Germline" "" "" "0" "" "" "g.47441735T>C" "" "pathogenic" "" "0000446564" "11" "90" "11" "47469717" "47469717" "subst" "4.2294E-6" "00006" "RAPSN_000034" "g.47469717G>T" "" "{PMID:Muller 2006:16931511}, {OMIM601592:0008}" "" "IVS1-15C>A" "creates potential new splice site, tested in vitro" "Germline" "" "" "0" "" "" "g.47448165G>T" "" "pathogenic" "" "0000446565" "21" "90" "11" "47463227" "47463227" "subst" "4.14285E-5" "00006" "RAPSN_000033" "g.47463227A>G" "" "{PMID:Muller 2006:16931511}, {OMIM601592:0007}" "" "(L283P)" "" "Germline" "" "" "0" "" "" "g.47441675A>G" "" "pathogenic" "" "0000446566" "11" "90" "11" "47469405" "47469405" "subst" "2.05788E-5" "00006" "RAPSN_000035" "g.47469405G>A" "" "{PMID:Muller 2006:16931511}, {OMIM601592:0009}" "" "" "" "Germline" "" "" "0" "" "" "g.47447853G>A" "" "pathogenic" "" "0000446567" "21" "90" "11" "47469405" "47469405" "subst" "2.05788E-5" "00006" "RAPSN_000035" "g.47469405G>A" "" "{PMID:Muller 2006:16931511}, {OMIM601592:0009}" "" "" "" "Germline" "" "" "0" "" "" "g.47447853G>A" "" "pathogenic" "" "0000446568" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446569" "2" "90" "11" "47470443" "47470443" "subst" "0" "00006" "RAPSN_000036" "g.47470443G>A" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448891G>A" "" "pathogenic" "" "0000446570" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446571" "2" "90" "11" "47469623" "47469623" "subst" "1.62706E-5" "00006" "RAPSN_000024" "g.47469623C>A" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448071C>A" "" "pathogenic" "" "0000446572" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446573" "2" "90" "11" "47460332" "47460334" "del" "0" "00006" "RAPSN_000038" "g.47460332_47460334del" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47438781_47438783del" "" "pathogenic" "" "0000446574" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446575" "2" "90" "11" "47460332" "47460334" "del" "0" "00006" "RAPSN_000038" "g.47460332_47460334del" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47438781_47438783del" "" "pathogenic" "" "0000446576" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446577" "2" "90" "11" "47460332" "47460334" "del" "0" "00006" "RAPSN_000038" "g.47460332_47460334del" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47438781_47438783del" "" "pathogenic" "" "0000446578" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446579" "2" "90" "11" "47460367" "47460367" "subst" "0" "00006" "RAPSN_000021" "g.47460367A>C" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47438816A>C" "" "pathogenic" "" "0000446580" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446581" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446582" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446583" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446584" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446585" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446586" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446587" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446588" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446589" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446590" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446591" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446592" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446593" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446594" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446595" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446596" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446597" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Cossins 2006:16945936}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446598" "11" "90" "11" "47470384" "47470384" "subst" "3.65892E-5" "00006" "RAPSN_000039" "g.47470384C>T" "" "{PMID:Maselli 2007:17594401}, {OMIM601592:0010}" "" "" "" "Germline" "" "" "0" "" "" "g.47448832C>T" "" "pathogenic" "" "0000446599" "21" "90" "11" "47469411" "47469411" "subst" "2.05501E-5" "00006" "RAPSN_000040" "g.47469411C>T" "" "{PMID:Maselli 2007:17594401}, {OMIM601592:0011}" "" "" "" "Germline" "" "" "0" "" "" "g.47447859C>T" "" "pathogenic" "" "0000446600" "11" "90" "11" "47469479" "47469479" "subst" "0" "00006" "RAPSN_000043" "g.47469479A>G" "" "{PMID:Michalk 2008:18252226}, {OMIM601592:0013}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.47447927A>G" "" "pathogenic" "" "0000446601" "21" "90" "11" "47464332" "47464332" "subst" "8.12209E-6" "00006" "RAPSN_000044" "g.47464332G>A" "" "{PMID:Michalk 2008:18252226}, {OMIM601592:0014}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.47442780G>A" "" "pathogenic" "" "0000446602" "11" "90" "11" "47469479" "47469479" "subst" "0" "00006" "RAPSN_000043" "g.47469479A>G" "" "{PMID:Michalk 2008:18252226}, {OMIM601592:0013}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.47447927A>G" "" "pathogenic" "" "0000446603" "21" "90" "11" "47464332" "47464332" "subst" "8.12209E-6" "00006" "RAPSN_000044" "g.47464332G>A" "" "{PMID:Michalk 2008:18252226}, {OMIM601592:0014}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.47442780G>A" "" "pathogenic" "" "0000446604" "1" "90" "11" "47470715" "47470715" "subst" "0" "00006" "RAPSN_000011" "g.47470715G>C" "" "{PMID:Milone 2009:19620612}" "" "-27C>G" "" "Germline" "" "" "0" "" "" "g.47449163G>C" "" "pathogenic" "" "0000446605" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446606" "1" "90" "11" "47459587" "47459588" "del" "0" "00006" "RAPSN_000022" "g.47459587_47459588del" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47438036_47438037del" "" "pathogenic" "" "0000446607" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446608" "1" "90" "11" "47470476" "47470476" "subst" "8.12163E-6" "00006" "RAPSN_000001" "g.47470476A>G" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448924A>G" "" "pathogenic" "" "0000446609" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446610" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446611" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446612" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446613" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446614" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446615" "2" "90" "11" "47463440" "47463440" "subst" "0" "00006" "RAPSN_000045" "g.47463440G>A" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47441888G>A" "" "pathogenic" "" "0000446616" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446617" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446618" "1" "90" "11" "47460472" "47460472" "subst" "0" "00006" "RAPSN_000046" "g.47460472A>G" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47438921A>G" "" "pathogenic" "" "0000446619" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446620" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446621" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446622" "1" "90" "11" "47469456" "47469456" "subst" "2.04925E-5" "00006" "RAPSN_000047" "g.47469456C>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47447904C>T" "" "pathogenic" "" "0000446623" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446624" "1" "90" "11" "47469604" "47469604" "subst" "0" "00006" "RAPSN_000025" "g.47469604G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448052G>T" "" "pathogenic" "" "0000446625" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446626" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446627" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446628" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446629" "2" "90" "11" "47464347" "47464351" "dup" "0" "00006" "RAPSN_000003" "g.47464347_47464351dup" "" "{PMID:Milone 2009:19620612}" "" "553-554insGTTCT" "" "Germline" "" "" "0" "" "" "g.47442795_47442799dup" "" "pathogenic" "" "0000446630" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446631" "2" "90" "11" "47469443" "47469443" "subst" "0" "00006" "RAPSN_000026" "g.47469443C>G" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47447891C>G" "" "pathogenic" "" "0000446632" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446633" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446634" "1" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446635" "2" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446636" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446637" "2" "90" "11" "47460452" "47460452" "subst" "3.04677E-5" "00006" "RAPSN_000027" "g.47460452C>A" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47438901C>A" "" "pathogenic" "" "0000446638" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446639" "2" "90" "11" "47469470" "47469470" "subst" "8.18632E-6" "00006" "RAPSN_000028" "g.47469470G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47447918G>T" "" "pathogenic" "" "0000446640" "1" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446641" "1" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446642" "1" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446643" "2" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446644" "1" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446645" "2" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446646" "1" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446647" "2" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446648" "1" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446649" "2" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446650" "1" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446651" "2" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446652" "1" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446653" "2" "90" "11" "47470726" "47470726" "subst" "0" "00006" "RAPSN_000012" "g.47470726T>C" "" "{PMID:Milone 2009:19620612}" "" "-38A>G" "" "Germline" "" "" "0" "" "" "g.47449174T>C" "" "pathogenic" "" "0000446654" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446655" "2" "90" "11" "47470353" "47470370" "del" "0" "00006" "RAPSN_000048" "g.47470353_47470370del" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448801_47448818del" "" "pathogenic" "" "0000446656" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446657" "2" "90" "11" "47459587" "47459588" "del" "0" "00006" "RAPSN_000022" "g.47459587_47459588del" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47438036_47438037del" "" "pathogenic" "" "0000446658" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446659" "2" "90" "11" "47469402" "47469402" "subst" "2.88565E-5" "00006" "RAPSN_000010" "g.47469402C>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47447850C>T" "" "pathogenic" "" "0000446660" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446661" "2" "90" "11" "47462708" "47462709" "delins" "0" "00006" "RAPSN_000049" "g.47462708_47462709delinsCT" "" "{PMID:Milone 2009:19620612}" "" "966+1GT>AG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000446662" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446663" "1" "90" "11" "47470384" "47470384" "subst" "3.65892E-5" "00006" "RAPSN_000039" "g.47470384C>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448832C>T" "" "pathogenic" "" "0000446664" "1" "90" "11" "47470476" "47470476" "subst" "8.12163E-6" "00006" "RAPSN_000001" "g.47470476A>G" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448924A>G" "" "pathogenic" "" "0000446665" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446666" "1" "90" "11" "47469456" "47469456" "subst" "2.04925E-5" "00006" "RAPSN_000047" "g.47469456C>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47447904C>T" "" "pathogenic" "" "0000446667" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446668" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446669" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446670" "1" "90" "11" "47469470" "47469470" "subst" "8.18632E-6" "00006" "RAPSN_000028" "g.47469470G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47447918G>T" "" "pathogenic" "" "0000446671" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446672" "1" "90" "11" "47470715" "47470715" "subst" "0" "00006" "RAPSN_000011" "g.47470715G>C" "" "{PMID:Milone 2009:19620612}" "" "-27C>G" "" "Germline" "" "" "0" "" "" "g.47449163G>C" "" "pathogenic" "" "0000446673" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446674" "1" "90" "11" "47460476" "47460476" "subst" "0" "00006" "RAPSN_000050" "g.47460476G>A" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47438925G>A" "" "pathogenic" "" "0000446675" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446676" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446677" "2" "90" "11" "47460332" "47460334" "del" "0" "00006" "RAPSN_000038" "g.47460332_47460334del" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47438781_47438783del" "" "pathogenic" "" "0000446678" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446679" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446680" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446681" "2" "90" "11" "47469404" "47469404" "subst" "0" "00006" "RAPSN_000051" "g.47469404C>T" "" "{PMID:Milone 2009:19620612}" "" "" "" "Germline" "" "" "0" "" "" "g.47447852C>T" "" "pathogenic" "" "0000446682" "11" "90" "11" "47470323" "47470323" "subst" "0" "00006" "RAPSN_000052" "g.47470323A>C" "" "{PMID:Brugnoni 2010:20157724}" "" "IVS1+2T>G" "" "Germline" "" "" "0" "" "" "g.47448771A>C" "" "pathogenic" "" "0000446683" "21" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Brugnoni 2010:20157724}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446684" "1" "90" "11" "47470456" "47470456" "subst" "0" "00006" "RAPSN_000041" "g.47470456G>A" "" "{PMID:M¸ller 2007:17686188}" "" "" "" "Germline" "" "" "0" "" "" "g.47448904G>A" "" "pathogenic" "" "0000446685" "1" "90" "11" "47469615" "47469615" "subst" "6.10034E-5" "00006" "RAPSN_000042" "g.47469615C>T" "" "{PMID:M¸ller 2007:17686188}" "" "" "" "Germline" "" "" "0" "" "" "g.47448063C>T" "" "pathogenic" "" "0000446687" "11" "90" "11" "47459587" "47459588" "del" "0" "00006" "RAPSN_000022" "g.47459587_47459588del" "" "{PMID:Vogt 2008:18179903}, {OMIM601592:0012}" "" "" "" "Germline" "" "" "0" "" "" "g.47438036_47438037del" "" "pathogenic" "" "0000446688" "21" "90" "11" "47459587" "47459588" "del" "0" "00006" "RAPSN_000022" "g.47459587_47459588del" "" "{PMID:Vogt 2008:18179903}, {OMIM601592:0012}" "" "" "" "Germline" "" "" "0" "" "" "g.47438036_47438037del" "" "pathogenic" "" "0000446689" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Skeie 2006:17190963}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446690" "2" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Skeie 2006:17190963}, {OMIM601592:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000446691" "0" "11" "11" "47460306" "47460306" "subst" "0.664069" "00006" "RAPSN_000007" "g.47460306A>G" "29/40" "{PMID:Muller 2004:15286164}" "" "" "40 control chromosomes tested" "Germline" "" "" "0" "" "" "g.47438755A>G" "" "benign" "" "0000446692" "0" "11" "11" "47463485" "47463485" "del" "0" "00006" "RAPSN_000016" "g.47463485del" "29/40" "{PMID:Muller 2004:15286164}" "StuI" "IVS3-11delC" "40 control chromosomes tested" "Germline" "" "" "0" "" "" "g.47441933del" "" "benign" "" "0000446693" "0" "11" "11" "47469439" "47469439" "subst" "0.680898" "00006" "RAPSN_000005" "g.47469439A>G" "29/40" "{PMID:Muller 2004:15286164}" "RsaI" "" "40 control chromosomes tested" "Germline" "" "" "0" "" "" "g.47447887A>G" "" "benign" "" "0000446694" "0" "11" "11" "47470953" "47470953" "subst" "0" "00006" "RAPSN_000054" "g.47470953T>C" "3/40" "{PMID:Muller 2004:15286164}" "MnlI" "-365G/A" "40 control chromosomes tested" "Germline" "" "" "0" "" "" "g.47449401T>C" "" "benign" "" "0000446695" "1" "90" "11" "47470510" "47470510" "subst" "0" "00513" "RAPSN_000013" "g.47470510G>T" "" "" "" "" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47448958G>T" "" "pathogenic" "" "0000446696" "1" "90" "11" "47470456" "47470456" "subst" "0" "00513" "RAPSN_000041" "g.47470456G>A" "" "" "" "" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47448904G>A" "" "pathogenic" "" "0000446697" "1" "90" "11" "47469717" "47469717" "subst" "4.2294E-6" "00513" "RAPSN_000034" "g.47469717G>T" "" "" "" "IVS1-15C>A" "compound heterozygous with 2nd pathogenic variant; creates potential new splice acceptor site" "Germline" "" "" "0" "" "" "g.47448165G>T" "" "pathogenic" "" "0000446698" "1" "90" "11" "47469624" "47469624" "subst" "0" "00513" "RAPSN_000056" "g.47469624G>A" "" "" "" "" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47448072G>A" "" "pathogenic" "" "0000446699" "1" "90" "11" "47469615" "47469615" "subst" "6.10034E-5" "00513" "RAPSN_000042" "g.47469615C>T" "" "" "" "" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47448063C>T" "" "pathogenic" "" "0000446700" "1" "90" "11" "47469405" "47469405" "subst" "2.05788E-5" "00513" "RAPSN_000035" "g.47469405G>A" "" "" "" "" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47447853G>A" "" "pathogenic" "" "0000446701" "1" "90" "11" "47469402" "47469402" "subst" "2.88565E-5" "00513" "RAPSN_000010" "g.47469402C>T" "" "" "" "" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47447850C>T" "" "pathogenic" "" "0000446702" "1" "90" "11" "47463440" "47463440" "subst" "0" "00513" "RAPSN_000045" "g.47463440G>A" "" "" "" "726G>A" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47441888G>A" "" "pathogenic" "" "0000446703" "1" "90" "11" "47463427" "47463427" "subst" "0" "00513" "RAPSN_000014" "g.47463427G>A" "" "" "" "" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47441875G>A" "" "pathogenic" "" "0000446704" "1" "90" "11" "47463227" "47463227" "subst" "4.14285E-5" "00513" "RAPSN_000033" "g.47463227A>G" "" "" "" "" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47441675A>G" "" "pathogenic" "" "0000446705" "1" "90" "11" "47463206" "47463206" "subst" "0" "00513" "RAPSN_000058" "g.47463206A>G" "" "" "" "" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47441654A>G" "" "pathogenic" "" "0000446706" "1" "90" "11" "47463203" "47463203" "subst" "1.66849E-5" "00513" "RAPSN_000015" "g.47463203C>T" "" "" "" "" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47441651C>T" "" "pathogenic" "" "0000446707" "1" "90" "11" "47460459" "47460462" "del" "0" "00513" "RAPSN_000059" "g.47460459_47460462del" "" "" "" "" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47438908_47438911del" "" "pathogenic" "" "0000446708" "1" "90" "11" "47460332" "47460334" "del" "0" "00513" "RAPSN_000038" "g.47460332_47460334del" "" "" "" "1119delGAA" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47438781_47438783del" "" "pathogenic" "" "0000446709" "1" "90" "11" "47459596" "47459596" "subst" "0" "00513" "RAPSN_000060" "g.47459596C>T" "" "" "" "" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47438045C>T" "" "pathogenic" "" "0000446710" "1" "90" "11" "47459587" "47459588" "del" "0" "00513" "RAPSN_000022" "g.47459587_47459588del" "" "" "" "" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47438036_47438037del" "" "pathogenic" "" "0000446711" "1" "90" "11" "47459582" "47459582" "del" "0" "00513" "RAPSN_000061" "g.47459582del" "" "" "" "1185delG" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47438031del" "" "pathogenic" "" "0000446712" "1" "90" "11" "0" "0" "" "0" "00513" "RAPSN_000000" "g.?" "" "" "" "" "4.5 Kb RAPSN deletion; compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000446713" "1" "90" "11" "47463374" "47463374" "subst" "0" "00513" "RAPSN_000062" "g.47463374C>A" "" "" "" "IVS4+1G>T" "compound heterozygous with 2nd pathogenic variant" "Germline" "" "" "0" "" "" "g.47441822C>A" "" "pathogenic" "" "0000446714" "2" "90" "11" "0" "0" "" "0" "00513" "RAPSN_000000" "g.?" "" "" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000446715" "1" "90" "11" "47469479" "47469479" "subst" "0" "00006" "RAPSN_000043" "g.47469479A>G" "" "{PMID:Michalk 2008:18252226}, {OMIM601592:0013}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.47447927A>G" "" "pathogenic" "" "0000446716" "1" "90" "11" "47464332" "47464332" "subst" "8.12209E-6" "00006" "RAPSN_000044" "g.47464332G>A" "" "{PMID:Michalk 2008:18252226}, {OMIM601592:0014}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.47442780G>A" "" "pathogenic" "" "0000446717" "11" "50" "11" "47464360" "47464360" "subst" "4.06342E-6" "00464" "RAPSN_000063" "g.47464360C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47442808C>T" "" "VUS" "" "0000446718" "21" "90" "11" "47469411" "47469411" "subst" "2.05501E-5" "00464" "RAPSN_000040" "g.47469411C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47447859C>T" "" "pathogenic" "" "0000446719" "10" "50" "11" "47462768" "47462768" "subst" "0" "00464" "RAPSN_000064" "g.47462768A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000446720" "20" "50" "11" "47462768" "47462768" "subst" "0" "00464" "RAPSN_000064" "g.47462768A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000446721" "11" "70" "11" "47463427" "47463427" "subst" "0" "00464" "RAPSN_000014" "g.47463427G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47441875G>A" "" "likely pathogenic" "" "0000446722" "21" "70" "11" "47469456" "47469456" "subst" "2.04925E-5" "00464" "RAPSN_000047" "g.47469456C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47447904C>T" "" "likely pathogenic" "" "0000446723" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00464" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic (recessive)" "" "0000446724" "2" "90" "11" "47469525" "47469525" "subst" "0" "00464" "RAPSN_000023" "g.47469525G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47447973G>A" "" "pathogenic (recessive)" "" "0000446725" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00464" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic (recessive)" "" "0000446726" "2" "70" "11" "47470714" "47470714" "del" "0" "00464" "RAPSN_000065" "g.47470714del" "" "" "" "-198delA" "c.-199C>G is a pathogenic change" "Germline" "" "" "0" "" "" "g.47449162del" "" "likely pathogenic" "" "0000446727" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00464" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic (recessive)" "" "0000446728" "2" "70" "11" "47469579" "47469579" "subst" "0" "00464" "RAPSN_000066" "g.47469579A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47448027A>G" "" "likely pathogenic" "" "0000613440" "0" "50" "11" "47460359" "47460359" "subst" "0" "02327" "RAPSN_000088" "g.47460359C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47438808C>T" "" "VUS" "" "0000613441" "0" "50" "11" "47463231" "47463231" "subst" "0" "02327" "RAPSN_000089" "g.47463231G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47441679G>A" "" "VUS" "" "0000613442" "0" "90" "11" "47469631" "47469631" "subst" "0.00155007" "01943" "RAPSN_000002" "g.47469631G>T" "" "" "" "RAPSN(NM_005055.4):c.264C>A (p.N88K, p.(Asn88Lys)), RAPSN(NM_005055.5):c.264C>A (p.N88K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47448079G>T" "" "pathogenic" "" "0000648302" "1" "30" "11" "47464284" "47464284" "subst" "0.0161241" "03575" "RAPSN_000079" "g.47464284C>T" "39/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "39 heterozygous; {DB:CLININrs34625105}" "Germline" "" "rs34625105" "0" "" "" "g.47442732C>T" "" "likely benign" "" "0000648303" "1" "90" "11" "47464332" "47464332" "subst" "8.12209E-6" "03575" "RAPSN_000044" "g.47464332G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs121909257}" "Germline" "" "rs121909257" "0" "" "" "g.47442780G>A" "" "pathogenic" "" "0000648304" "1" "50" "11" "47469371" "47469371" "subst" "0" "03575" "RAPSN_000093" "g.47469371T>C" "3/2779 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 3 heterozygous, no homozygous; {DB:CLININrs863224912}" "Germline" "" "rs863224912" "0" "" "" "g.47447819T>C" "" "VUS" "" "0000648305" "1" "50" "11" "47469631" "47469631" "subst" "0.00155007" "03575" "RAPSN_000002" "g.47469631G>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs104894299}" "Germline" "" "rs104894299" "0" "" "" "g.47448079G>T" "" "VUS" "" "0000653261" "1" "70" "11" "47470384" "47470384" "subst" "3.65892E-5" "03575" "RAPSN_000039" "g.47470384C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121909254}" "Germline" "" "rs121909254" "0" "" "" "g.47448832C>T" "" "likely pathogenic" "" "0000653421" "0" "70" "11" "47470384" "47470384" "subst" "3.65892E-5" "01164" "RAPSN_000039" "g.47470384C>T" "" "" "" "" "ACMG: PS3,PM2,PP1,PP3; no second variant detected in RAPSN, CNV analysis negative; Milone et al. 2009. Neurology 3: 228; Maselli et al. 2007. Clin Genet 1: 63" "Germline" "" "rs121909254" "0" "" "" "g.47448832C>T" "" "likely pathogenic" "ACMG" "0000665333" "3" "90" "11" "47469631" "47469631" "subst" "0.00155007" "01164" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "Müller JS et al. 2004. Neuromuscul Disord 14: 744-9; Ohno et al. 2002. Am J Hum Genet 70: 875; Müller et al. 2004. J Med Genet 41: 104" "Germline" "" "rs104894299" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0000669127" "3" "30" "11" "47464284" "47464284" "subst" "0.0161241" "03575" "RAPSN_000079" "g.47464284C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs34625105}" "Germline" "" "rs34625105" "0" "" "" "g.47442732C>T" "" "likely benign" "" "0000675320" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00534" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000675360" "2" "70" "11" "47463452" "47463452" "subst" "0" "00534" "RAPSN_000090" "g.47463452G>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000679220" "0" "30" "11" "47469421" "47469421" "subst" "0.00107495" "02326" "RAPSN_000091" "g.47469421G>A" "" "" "" "RAPSN(NM_005055.4):c.474C>T (p.(Asp158=)), RAPSN(NM_005055.5):c.474C>T (p.D158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697671" "0" "70" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "5/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "likely pathogenic" "" "0000697672" "0" "70" "11" "47469405" "47469405" "subst" "2.05788E-5" "00006" "RAPSN_000035" "g.47469405G>A" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.47447853G>A" "" "likely pathogenic" "" "0000697673" "0" "70" "11" "47470479" "47470479" "subst" "0" "00006" "RAPSN_000092" "g.47470479C>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.47448927C>T" "" "likely pathogenic" "" "0000723485" "0" "90" "11" "47469631" "47469631" "subst" "0.00155007" "02329" "RAPSN_000002" "g.47469631G>T" "" "" "" "RAPSN(NM_005055.4):c.264C>A (p.N88K, p.(Asn88Lys)), RAPSN(NM_005055.5):c.264C>A (p.N88K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000833105" "1" "70" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "likely pathogenic" "" "0000833120" "1" "70" "11" "47469402" "47469402" "subst" "2.88565E-5" "00006" "RAPSN_000010" "g.47469402C>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.47447850C>T" "" "likely pathogenic" "" "0000833132" "3" "70" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "likely pathogenic" "" "0000833183" "2" "70" "11" "47464295" "47464295" "subst" "0" "00006" "RAPSN_000053" "g.47464295G>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.47442743G>T" "" "likely pathogenic" "" "0000844679" "3" "90" "11" "47469631" "47469631" "subst" "0.00155007" "04292" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "ACMG" "0000844731" "0" "70" "11" "47469717" "47469717" "subst" "4.2294E-6" "04292" "RAPSN_000034" "g.47469717G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000844732" "0" "90" "11" "47469631" "47469631" "subst" "0.00155007" "04292" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000853025" "0" "50" "11" "47469699" "47469699" "subst" "2.89917E-5" "01804" "RAPSN_000097" "g.47469699C>T" "" "" "" "RAPSN(NM_005055.4):c.196G>A (p.(Ala66Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862573" "0" "30" "11" "47463172" "47463172" "subst" "0.000173089" "01804" "RAPSN_000094" "g.47463172C>T" "" "" "" "RAPSN(NM_005055.4):c.903G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862574" "0" "90" "11" "47463227" "47463227" "subst" "4.14285E-5" "01804" "RAPSN_000033" "g.47463227A>G" "" "" "" "RAPSN(NM_005055.4):c.848T>C (p.(Leu283Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862575" "0" "50" "11" "47463363" "47463378" "dup" "0" "01804" "RAPSN_000095" "g.47463363_47463378dup" "" "" "" "RAPSN(NM_005055.4):c.789_789+15dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862576" "0" "30" "11" "47469420" "47469420" "subst" "2.87135E-5" "01804" "RAPSN_000096" "g.47469420C>T" "" "" "" "RAPSN(NM_005055.4):c.475G>A (p.(Ala159Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000876886" "11" "90" "11" "47469631" "47469631" "subst" "0.00155007" "03652" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.47448079G>T" "" "pathogenic (recessive)" "ACMG" "0000876887" "21" "70" "11" "47463427" "47463427" "subst" "0" "03652" "RAPSN_000014" "g.47463427G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47441875G>A" "" "pathogenic (recessive)" "ACMG" "0000876901" "21" "90" "11" "47469631" "47469631" "subst" "0.00155007" "03652" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.47448079G>T" "" "pathogenic (recessive)" "ACMG" "0000876902" "11" "70" "11" "47463165" "47463165" "subst" "0" "03652" "RAPSN_000098" "g.47463165T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47441613T>A" "" "pathogenic" "ACMG" "0000889973" "0" "50" "11" "47464197" "47464197" "subst" "2.46303E-5" "01804" "RAPSN_000099" "g.47464197C>T" "" "" "" "RAPSN(NM_005055.4):c.690+11G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889974" "0" "10" "11" "47470355" "47470355" "subst" "0.00346792" "02326" "RAPSN_000087" "g.47470355C>T" "" "" "" "RAPSN(NM_005055.4):c.162G>A (p.(Ser54=)), RAPSN(NM_005055.5):c.162G>A (p.S54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000902220" "11" "70" "11" "47463427" "47463427" "subst" "0" "01479" "RAPSN_000014" "g.47463427G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000902221" "21" "90" "11" "47469631" "47469631" "subst" "0.00155007" "01479" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000913622" "0" "30" "11" "47463254" "47463254" "subst" "0.00109468" "01804" "RAPSN_000100" "g.47463254C>T" "" "" "" "RAPSN(NM_005055.4):c.821G>A (p.(Ser274Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925430" "0" "90" "11" "47463475" "47463475" "subst" "0" "02327" "RAPSN_000101" "g.47463475T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000946021" "1" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic (recessive)" "" "0000946054" "0" "50" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Westra 2019:31127727}" "" "" "no variant 2nd chromosome after targeted sequencing; no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.47448079G>T" "" "VUS" "" "0000946167" "2" "90" "11" "47463427" "47463427" "subst" "0" "00006" "RAPSN_000014" "g.47463427G>A" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.47441875G>A" "" "pathogenic (recessive)" "" "0000966424" "0" "30" "11" "47464258" "47464258" "subst" "0.000247925" "01804" "RAPSN_000102" "g.47464258C>T" "" "" "" "RAPSN(NM_005055.4):c.640G>A (p.(Val214Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979640" "0" "50" "11" "47463249" "47463249" "subst" "0" "01804" "RAPSN_000103" "g.47463249T>C" "" "" "" "RAPSN(NM_005055.5):c.826A>G (p.(Met276Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979641" "0" "50" "11" "47469680" "47469680" "subst" "0" "01804" "RAPSN_000104" "g.47469680G>T" "" "" "" "RAPSN(NM_005055.5):c.215C>A (p.(Thr72Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014843" "0" "50" "11" "47464231" "47464231" "subst" "4.07057E-5" "01804" "RAPSN_000105" "g.47464231C>T" "" "" "" "RAPSN(NM_005055.4):c.667G>A (p.(Gly223Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014844" "0" "30" "11" "47469403" "47469403" "subst" "0.000362313" "01804" "RAPSN_000106" "g.47469403G>A" "" "" "" "RAPSN(NM_005055.4):c.492C>T (p.(Arg164=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026028" "0" "90" "11" "47459587" "47459588" "del" "0" "02325" "RAPSN_000022" "g.47459587_47459588del" "" "" "" "RAPSN(NM_005055.5):c.1177_1178delAA (p.N393Qfs*83)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038500" "0" "30" "11" "47459562" "47459562" "subst" "0.000107446" "01804" "RAPSN_000107" "g.47459562G>A" "" "" "" "RAPSN(NM_005055.5):c.1203C>T (p.(Asn401=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038501" "0" "50" "11" "47463395" "47463395" "subst" "0" "01804" "RAPSN_000108" "g.47463395G>A" "" "" "" "RAPSN(NM_005055.5):c.769C>T (p.(Arg257Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038502" "0" "50" "11" "47463440" "47463440" "subst" "0" "01804" "RAPSN_000045" "g.47463440G>A" "" "" "" "RAPSN(NM_005055.5):c.724C>T (p.(Arg242Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038503" "0" "30" "11" "47469421" "47469421" "subst" "0.00107495" "01804" "RAPSN_000091" "g.47469421G>A" "" "" "" "RAPSN(NM_005055.4):c.474C>T (p.(Asp158=)), RAPSN(NM_005055.5):c.474C>T (p.D158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046317" "0" "30" "11" "47470355" "47470355" "subst" "0.00346792" "01804" "RAPSN_000087" "g.47470355C>T" "" "" "" "RAPSN(NM_005055.4):c.162G>A (p.(Ser54=)), RAPSN(NM_005055.5):c.162G>A (p.S54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053882" "0" "50" "11" "47462750" "47462750" "subst" "1.21896E-5" "01804" "RAPSN_000109" "g.47462750A>C" "" "" "" "RAPSN(NM_005055.5):c.926T>G (p.(Ile309Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053883" "0" "70" "11" "47469405" "47469405" "subst" "2.05788E-5" "01804" "RAPSN_000035" "g.47469405G>A" "" "" "" "RAPSN(NM_005055.5):c.490C>T (p.(Arg164Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001053884" "0" "50" "11" "47469688" "47469688" "subst" "0" "01804" "RAPSN_000110" "g.47469688C>T" "" "" "" "RAPSN(NM_005055.4):c.207G>A (p.(Gln69=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053885" "0" "50" "11" "47470377" "47470377" "subst" "3.25425E-5" "01804" "RAPSN_000111" "g.47470377C>T" "" "" "" "RAPSN(NM_005055.5):c.140G>A (p.(Gly47Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059070" "0" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" "0001059071" "0" "90" "11" "47460367" "47460368" "dup" "0" "00006" "RAPSN_000018" "g.47460367_47460368dup" "" "{PMID:Retterer 2016:26633542}" "" "1083_1084dupCT" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.47438816_47438817dup" "" "pathogenic" "" "0001059072" "0" "90" "11" "47469631" "47469631" "subst" "0.00155007" "00006" "RAPSN_000002" "g.47469631G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.47448079G>T" "" "pathogenic" "" ## 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 RAPSN ## Count = 610 "{{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}}" "0000000231" "00025702" "50" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000063839" "00025702" "50" "-231" "0" "-231" "0" "c.-231C>T" "r.(?)" "p.(=)" "" "0000063840" "00025702" "90" "755" "0" "759" "0" "c.755_759del" "r.(?)" "p.(Phe252*)" "" "0000063841" "00025702" "50" "1167" "-46" "1167" "-46" "c.1167-46del" "r.(?)" "p.(=)" "" "0000063842" "00025702" "90" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Cys)" "" "0000063843" "00025702" "10" "1296" "0" "1296" "0" "c.*57C>T" "r.(?)" "p.(=)" "" "0000063844" "00025702" "10" "241" "0" "241" "0" "c.241T>C" "r.(?)" "p.(Phe81Leu)" "" "0000063845" "00025702" "10" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Arg205Gln)" "" "0000063846" "00025702" "50" "532" "-36" "532" "-36" "c.532-36C>T" "r.(?)" "p.(=)" "" "0000063847" "00025702" "50" "1096" "0" "1096" "0" "c.1096T>G" "r.(?)" "p.(Cys366Gly)" "" "0000063848" "00025702" "50" "-671" "0" "-671" "0" "c.-671G>A" "r.(?)" "p.(=)" "" "0000063849" "00025702" "50" "-821" "0" "-821" "0" "c.-821G>C" "r.(?)" "p.(=)" "" "0000063850" "00025702" "50" "913" "-75" "913" "-75" "c.913-75del" "r.(?)" "p.(=)" "" "0000063851" "00025702" "50" "-546" "0" "-546" "0" "c.-546T>C" "r.(?)" "p.(=)" "" "0000063852" "00025702" "10" "-72" "0" "-72" "0" "c.-72C>T" "r.(?)" "p.(=)" "" "0000063853" "00025702" "50" "912" "72" "912" "72" "c.912+72C>T" "r.(?)" "p.(=)" "" "0000126812" "00025702" "90" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164His)" "2" "0000132210" "00025702" "90" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164His)" "2" "0000248644" "00025702" "10" "1143" "0" "1143" "0" "c.1143T>C" "r.(?)" "p.(Pro381=)" "" "0000248645" "00025702" "10" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(Tyr152=)" "" "0000297572" "00025702" "10" "193" "-15" "193" "-15" "c.193-15C>T" "r.(=)" "p.(=)" "" "0000297573" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000297574" "00025702" "10" "691" "-11" "691" "-11" "c.691-11del" "r.(=)" "p.(=)" "" "0000301377" "00025702" "10" "193" "-15" "193" "-15" "c.193-15C>T" "r.(=)" "p.(=)" "" "0000301378" "00025702" "30" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Arg205Gln)" "" "0000322229" "00025702" "30" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Arg205Gln)" "" "0000322230" "00025702" "90" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Val165Met)" "" "0000322231" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000322232" "00025702" "30" "241" "0" "241" "0" "c.241T>C" "r.(?)" "p.(Phe81Leu)" "" "0000336843" "00025702" "10" "1296" "0" "1296" "0" "c.*57C>T" "r.(=)" "p.(=)" "" "0000338187" "00025702" "10" "193" "-15" "193" "-15" "c.193-15C>T" "r.(=)" "p.(=)" "" "0000340141" "00025702" "10" "1143" "0" "1143" "0" "c.1143T>C" "r.(?)" "p.(Pro381=)" "" "0000340142" "00025702" "10" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(Gln285=)" "" "0000340143" "00025702" "10" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(Tyr152=)" "" "0000341297" "00025702" "70" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Ala246Val)" "" "0000342833" "00025702" "50" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Cys)" "" "0000343142" "00025702" "10" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Cys)" "" "0000343841" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000355066" "00025702" "70" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000355067" "00025702" "90" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Val165Met)" "2" "0000355068" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000355069" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000367744" "00025702" "10" "1143" "0" "1143" "0" "c.1143T>C" "r.(?)" "p.(=)" "7" "0000367745" "00025702" "10" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(=)" "5" "0000367746" "00025702" "10" "691" "-11" "691" "-11" "c.691-11del" "r.(?)" "p.(=)" "" "0000367747" "00025702" "10" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(=)" "2" "0000367748" "00025702" "10" "193" "-15" "193" "-15" "c.193-15C>T" "r.(?)" "p.(=)" "1i" "0000446226" "00025702" "50" "1130" "0" "1130" "0" "c.1130T>C" "r.(?)" "p.(Leu377Pro)" "7" "0000446227" "00025702" "50" "1130" "0" "1130" "0" "c.1130T>C" "r.(?)" "p.(Leu377Pro)" "7" "0000446228" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000446229" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000446230" "00025702" "90" "41" "0" "41" "0" "c.41T>C" "r.(?)" "p.(Leu14Pro)" "1" "0000446231" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000446232" "00025702" "90" "41" "0" "41" "0" "c.41T>C" "r.(?)" "p.(Leu14Pro)" "1" "0000446233" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000446234" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000446235" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000446236" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000446237" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000446238" "00025702" "90" "549" "0" "553" "0" "c.549_553dup" "r.(?)" "p.(Phe185Cysfs*20)" "3" "0000446239" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000446240" "00025702" "10" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Cys)" "1" "0000446241" "00025702" "10" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(=)" "2" "0000446242" "00025702" "10" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(=)" "5" "0000446243" "00025702" "10" "1143" "0" "1143" "0" "c.1143T>C" "r.(?)" "p.(=)" "7" "0000446244" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000446245" "00025702" "11" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(=)" "2" "0000446246" "00025702" "11" "1143" "0" "1143" "0" "c.1143T>C" "r.(?)" "p.(=)" "7" "0000446247" "00025702" "11" "1166" "185" "1166" "185" "c.1166+185G>A" "r.(?)" "p.(=)" "7i" "0000446248" "00025702" "11" "1166" "278" "1166" "278" "c.1166+278A>G" "r.(?)" "p.(=)" "7i" "0000446249" "00025702" "11" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(=)" "2" "0000446250" "00025702" "11" "1143" "0" "1143" "0" "c.1143T>C" "r.(?)" "p.(=)" "7" "0000446251" "00025702" "11" "1166" "185" "1166" "185" "c.1166+185G>A" "r.(?)" "p.(=)" "7i" "0000446252" "00025702" "11" "1166" "278" "1166" "278" "c.1166+278A>G" "r.(?)" "p.(=)" "7i" "0000446253" "00025702" "90" "-199" "0" "-199" "0" "c.-199C>G" "r.(?)" "p.(=)" "1" "0000446254" "00025702" "11" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(=)" "2" "0000446255" "00025702" "11" "1143" "0" "1143" "0" "c.1143T>C" "r.(?)" "p.(=)" "7" "0000446256" "00025702" "11" "1166" "185" "1166" "185" "c.1166+185G>A" "r.(?)" "p.(=)" "7i" "0000446257" "00025702" "11" "1166" "278" "1166" "278" "c.1166+278A>G" "r.(?)" "p.(=)" "7i" "0000446258" "00025702" "90" "-210" "0" "-210" "0" "c.-210A>G" "r.(?)" "p.(=)" "1" "0000446259" "00025702" "11" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(=)" "2" "0000446260" "00025702" "11" "1143" "0" "1143" "0" "c.1143T>C" "r.(?)" "p.(=)" "7" "0000446261" "00025702" "11" "1166" "185" "1166" "185" "c.1166+185G>A" "r.(?)" "p.(=)" "7i" "0000446262" "00025702" "11" "1166" "278" "1166" "278" "c.1166+278A>G" "r.(?)" "p.(=)" "7i" "0000446263" "00025702" "90" "-210" "0" "-210" "0" "c.-210A>G" "r.(?)" "p.(=)" "1" "0000446264" "00025702" "11" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(=)" "2" "0000446265" "00025702" "11" "1143" "0" "1143" "0" "c.1143T>C" "r.(?)" "p.(=)" "7" "0000446266" "00025702" "11" "1166" "185" "1166" "185" "c.1166+185G>A" "r.(?)" "p.(=)" "7i" "0000446267" "00025702" "11" "1166" "278" "1166" "278" "c.1166+278A>G" "r.(?)" "p.(=)" "7i" "0000446268" "00025702" "90" "-210" "0" "-210" "0" "c.-210A>G" "r.(?)" "p.(=)" "1" "0000446269" "00025702" "11" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(=)" "2" "0000446270" "00025702" "11" "1143" "0" "1143" "0" "c.1143T>C" "r.(?)" "p.(=)" "7" "0000446271" "00025702" "11" "1166" "185" "1166" "185" "c.1166+185G>A" "r.(?)" "p.(=)" "7i" "0000446272" "00025702" "11" "1166" "278" "1166" "278" "c.1166+278A>G" "r.(?)" 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"p.(Ala246Val)" "4" "0000446704" "00025702" "90" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Leu283Pro)" "5" "0000446705" "00025702" "90" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Leu290Pro)" "5" "0000446706" "00025702" "90" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Gly291Asp)" "5" "0000446707" "00025702" "90" "990" "0" "993" "0" "c.990_993del" "r.(?)" "p.(Cys330*)" "7" "0000446708" "00025702" "90" "1119" "0" "1121" "0" "c.1119_1121del" "r.(?)" "p.(Lys373del)" "7" "0000446709" "00025702" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Cys390Tyr)" "8" "0000446710" "00025702" "90" "1177" "0" "1178" "0" "c.1177_1178del" "r.(?)" "p.(Asn393Glnfs*?)" "8" "0000446711" "00025702" "90" "1185" "0" "1185" "0" "c.1185del" "r.(?)" "p.(Thr396Profs*12)" "8" "0000446712" "00025702" "90" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "1_8" "0000446713" "00025702" "90" "789" "1" "789" "1" "c.789+1G>T" "r.spl" "p.?" "4i" "0000446714" "00025702" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "_1_8_" "0000446715" "00025702" "90" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Phe139Ser)" "2" "0000446716" "00025702" "90" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Ala189Val)" "3" "0000446717" "00025702" "50" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Glu180Lys)" "3" "0000446718" "00025702" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Glu162Lys)" "2" "0000446719" "00025702" "50" "913" "-5" "913" "-5" "c.913-5T>A" "r.spl?" "p.?" "5i" "0000446720" "00025702" "50" "913" "-5" "913" "-5" "c.913-5T>A" "r.spl?" "p.?" "5i" "0000446721" "00025702" "70" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Ala246Val)" "4" "0000446722" "00025702" "70" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Glu147Lys)" "2" "0000446723" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000446724" "00025702" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Gln124*)" "2" "0000446725" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000446726" "00025702" "70" "-198" "0" "-198" "0" "c.-198del" "r.(?)" "p.(=)" "1" "0000446727" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000446728" "00025702" "70" "316" "0" "316" "0" "c.316T>C" "r.(?)" "p.(Cys106Arg)" "2" "0000613440" "00025702" "50" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Gly364Ser)" "" "0000613441" "00025702" "50" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Cys)" "" "0000613442" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000648302" "00025702" "30" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Arg205Gln)" "" "0000648303" "00025702" "90" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Ala189Val)" "" "0000648304" "00025702" "50" "524" "0" "524" "0" "c.524A>G" "r.(?)" "p.(Gln175Arg)" "" "0000648305" "00025702" "50" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000653261" "00025702" "70" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Val45Met)" "" "0000653421" "00025702" "70" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Val45Met)" "" "0000665333" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000669127" "00025702" "30" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Arg205Gln)" "" "0000675320" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000675360" "00025702" "70" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Gln238*)" "" "0000679220" "00025702" "30" "474" "0" "474" "0" "c.474C>T" "r.(?)" "p.(Asp158=)" "" "0000697671" "00025702" "70" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000697672" "00025702" "70" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164Cys)" "" "0000697673" "00025702" "70" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Gly13Glu)" "" "0000723485" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000833105" "00025702" "70" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000833120" "00025702" "70" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Val165Met)" "" "0000833132" "00025702" "70" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000833183" "00025702" "70" "603" "0" "603" "0" "c.603C>A" "r.(?)" "p.(Ser201Arg)" "" "0000844679" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000844731" "00025702" "70" "193" "-15" "193" "-15" "c.193-15C>A" "r.(?)" "p.(=)" "" "0000844732" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000853025" "00025702" "50" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Ala66Thr)" "" "0000862573" "00025702" "30" "903" "0" "903" "0" "c.903G>A" "r.(?)" "p.(Ala301=)" "" "0000862574" "00025702" "90" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Leu283Pro)" "" "0000862575" "00025702" "50" "789" "0" "789" "15" "c.789_789+15dup" "r.spl?" "p.?" "" "0000862576" "00025702" "30" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Ala159Thr)" "" "0000876886" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000876887" "00025702" "70" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Ala246Val)" "4" "0000876901" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "2" "0000876902" "00025702" "70" "910" "0" "910" "0" "c.910A>T" "r.(?)" "p.(Lys304*)" "5" "0000889973" "00025702" "50" "690" "11" "690" "11" "c.690+11G>A" "r.(=)" "p.(=)" "" "0000889974" "00025702" "10" "162" "0" "162" "0" "c.162G>A" "r.(?)" "p.(Ser54=)" "" "0000902220" "00025702" "70" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Ala246Val)" "" "0000902221" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000913622" "00025702" "30" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Ser274Asn)" "" "0000925430" "00025702" "90" "691" "-2" "691" "-2" "c.691-2A>G" "r.spl?" "p.?" "" "0000946021" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000946054" "00025702" "50" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0000946167" "00025702" "90" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Ala246Val)" "" "0000966424" "00025702" "30" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Val214Met)" "" "0000979640" "00025702" "50" "826" "0" "826" "0" "c.826A>G" "r.(?)" "p.(Met276Val)" "" "0000979641" "00025702" "50" "215" "0" "215" "0" "c.215C>A" "r.(?)" "p.(Thr72Lys)" "" "0001014843" "00025702" "50" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Gly223Ser)" "" "0001014844" "00025702" "30" "492" "0" "492" "0" "c.492C>T" "r.(?)" "p.(=)" "" "0001026028" "00025702" "90" "1177" "0" "1178" "0" "c.1177_1178del" "r.(?)" "p.(Asn393GlnfsTer83)" "" "0001038500" "00025702" "30" "1203" "0" "1203" "0" "c.1203C>T" "r.(?)" "p.(=)" "" "0001038501" "00025702" "50" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Trp)" "" "0001038502" "00025702" "50" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Arg242Trp)" "" "0001038503" "00025702" "30" "474" "0" "474" "0" "c.474C>T" "r.(?)" "p.(Asp158=)" "" "0001046317" "00025702" "30" "162" "0" "162" "0" "c.162G>A" "r.(?)" "p.(Ser54=)" "" "0001053882" "00025702" "50" "926" "0" "926" "0" "c.926T>G" "r.(?)" "p.(Ile309Ser)" "" "0001053883" "00025702" "70" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164Cys)" "" "0001053884" "00025702" "50" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(=)" "" "0001053885" "00025702" "50" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Gly47Asp)" "" "0001059070" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" "0001059071" "00025702" "90" "1083" "0" "1084" "0" "c.1083_1084dup" "r.(?)" "p.(Tyr362SerfsTer10)" "" "0001059072" "00025702" "90" "264" "0" "264" "0" "c.264C>A" "r.(?)" "p.(Asn88Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 562 "{{screeningid}}" "{{variantid}}" "0000000005" "0000000231" "0000036714" "0000063839" "0000036715" "0000063840" "0000036716" "0000063841" "0000036717" "0000063842" "0000036718" "0000063843" "0000036719" "0000063844" "0000036720" "0000063845" "0000036721" "0000063846" "0000036722" "0000063847" "0000036723" "0000063848" "0000036724" "0000063849" "0000036725" "0000063850" "0000036726" "0000063851" "0000036727" "0000063852" "0000036728" "0000063853" "0000079079" "0000126812" "0000079080" "0000132210" "0000155348" "0000355066" "0000155348" "0000355067" "0000155349" "0000355068" "0000155350" "0000355069" "0000164515" "0000367744" "0000164515" "0000367745" "0000164515" "0000367746" "0000164515" "0000367747" "0000164515" "0000367748" "0000214280" "0000446226" "0000214280" "0000446227" "0000214281" "0000446228" "0000214281" "0000446229" "0000214282" "0000446230" "0000214282" "0000446231" 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