### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHM) # 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}}" "CHM" "choroideremia (Rab escort protein 1)" "X" "q21.1-q21.3" "unknown" "LRG_699" "UD_132118332278" "" "https://www.LOVD.nl/CHM" "KMeyeDB \r\neyeGENE database " "1" "1940" "1121" "300390" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the CHM database using: www.LOVD.nl/CHM
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CHM_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00000" "2010-03-08 00:00:00" "00006" "2019-06-28 18:54:27" "00000" "2025-11-01 13:22:20" ## 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}}" "00000927" "CHM" "transcript variant 1" "001" "NM_000390.2" "" "NP_000381.1" "" "" "" "-30" "5412" "1962" "85116185" "85302566" "00000" "2012-09-13 12:59:31" "" "" ## 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" "" "" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01680" "BCD" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "AR" "210370" "eyes" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02223" "CHM" "choroideremia (CHM)" "XLD" "303100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-26 14:21:26" "04211" "RPar" "retinitis pigmentosa, autosomal recessive (RPar)" "" "" "" "" "" "00006" "2015-02-27 18:58:57" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05426" "XLRP" "retinitis pigmentosa, X-linked (XLRP)" "" "" "" "" "" "00006" "2018-05-07 19:48:33" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CHM" "02223" ## Individuals ## Do not remove or alter this header ## ## Count = 969 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00164773" "" "" "" "1" "" "00110" "{PMID:Vaché 2019:30341801}" "" "M" "no" "France" "" "0" "" "" "" "CHM9" "00164774" "" "" "" "1" "" "00110" "{PMID:Vaché 2019:30341801}" "" "M" "no" "France" "" "0" "" "" "" "CHM10" "00164775" "" "" "" "1" "" "00110" "{PMID:Vaché 2019:30341801}" "" "M" "no" "France" "" "0" "" "" "" "CHM8" "00166252" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "?" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377473-Pat?" "00166253" "" "" "" "5" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "?" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377474-Pat?" "00166254" "" "" "" "28" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "?" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377475-Pat?" "00166255" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166256" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166257" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166258" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166259" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166260" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166261" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166262" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166263" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166264" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "Carrier, mother of patient" "F" "" "Japan" "" "0" "" "" "" "" "00166265" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166266" "" "" "" "1" "" "00110" "{PMID:GarciajalopezHoyos 2008:18385043}" "" "M" "" "Spain" "" "0" "" "" "" "" "00166267" "" "" "" "1" "" "00110" "{PMID:van Bokhoven 1994:7981671}" "" "?" "" "Denmark" "" "0" "" "" "" "" "00166268" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166269" "" "" "" "1" "" "00110" "{PMID:Villaverde 2007:17879444}" "" "M" "" "" "" "0" "" "" "" "" "00166270" "" "" "" "1" "" "00110" "{PMID:Beaufrère 1997:9441709}" "" "M" "" "France" "" "0" "" "" "" "" "00166271" "" "" "" "1" "" "00110" "{PMID:Villaverde 2007:17879444}" "" "M" "" "" "" "0" "" "" "" "" "00166272" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166273" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166274" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "Germany" "" "0" "" "" "" "" "00166275" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "Germany" "" "0" "" "" "" "" "00166276" "" "" "" "1" "" "00110" "{PMID:Nesslinger 1996:8832720}" "" "M" "" "Canada" "" "0" "" "" "" "" "00166277" "" "" "" "1" "" "00110" "{PMID:Itabashi 2004:15579993}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166278" "" "" "" "1" "" "00110" "{PMID:Itabashi 2004:15579993}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166279" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166280" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166281" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166282" "" "" "" "1" "" "00110" "{PMID:van Bokhoven 1994:7981671}" "" "M" "" "" "" "0" "" "" "" "" "00166283" "" "" "" "1" "" "00110" "{PMID:GarciajalopezHoyos 2008:18385043}" "" "M" "" "Spain" "" "0" "" "" "" "" "00166284" "" "" "" "1" "" "00110" "{PMID:Beaufrère 1997:9441709}" "" "M" "" "France" "" "0" "" "" "" "" "00166285" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166286" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166287" "" "" "" "1" "" "00110" "{PMID:Mc Donald 2004:15225095}" "" "M" "" "" "" "0" "" "" "" "" "00166288" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166289" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166290" "" "" "" "1" "" "00110" "{PMID:van Bokhoven 1994:7981671}" "" "M" "" "" "" "0" "" "" "" "" "00166291" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166292" "" "" "" "1" "" "00110" "{PMID:Yip 2007:18087237}" "" "M" "" "China" "" "0" "" "" "" "" "00166293" "" "" "" "1" "" "00110" "{PMID:GarciajalopezHoyos 2008:18385043}" "" "M" "" "Spain" "" "0" "" "" "" "" "00166294" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166295" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166296" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166297" "" "" "" "1" "" "00110" "{PMID:Yip 2007:18087237}" "" "M" "" "China" "" "0" "" "" "" "" "00166298" "" "" "" "1" "" "00110" "{PMID:Yip 2007:18087237}" "" "M" "" "China" "" "0" "" "" "" "" "00166299" "" "" "" "1" "" "00110" "{PMID:Van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166300" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166301" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166302" "" "" "" "1" "" "00110" "{PMID:GarciajalopezHoyos 2008:18385043}" "" "M" "" "Spain" "" "0" "" "" "" "" "00166303" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166304" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1997:9067750}" "" "M" "" "" "" "0" "" "" "" "" "00166305" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166306" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166307" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166308" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166309" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166310" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166311" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166312" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166313" "" "" "" "1" "" "00110" "{PMID:Francis 2005:16087855}" "" "M" "" "" "" "0" "" "" "" "" "00166314" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166315" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166316" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166317" "" "" "" "1" "" "00110" "" "" "M" "" "" "" "0" "" "" "" "" "00166318" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166319" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166320" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166321" "" "" "" "1" "" "00110" "{PMID:Beaufrère 1997:9441709}" "" "M" "" "France" "" "0" "" "" "" "" "00166322" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1997:9067750}" "" "M" "" "" "" "0" "" "" "" "" "00166323" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166324" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166325" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166326" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166327" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166328" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166329" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166330" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166331" "" "" "" "1" "" "00110" "{PMID:Potter 2004:15465555}" "" "F" "" "" "" "0" "" "" "" "" "00166332" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166333" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166334" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166335" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166336" "" "" "" "1" "" "00110" "{PMID:Mc Donald 1998:9754170}" "" "M" "" "" "" "0" "" "" "" "" "00166337" "" "" "" "1" "" "00110" "{PMID:GarciajalopezHoyos 2008:18385043}" "" "M" "" "Spain" "" "0" "" "" "" "" "00166338" "" "" "" "1" "" "00110" "{PMID:van Bokhoven 1994:7981671}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00166339" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166340" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166341" "" "" "" "1" "" "00110" "{PMID:Iino 2008:18773267}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166342" "" "" "" "1" "" "00110" "{PMID:Iino 2008:18773267}" "Sister of JP010140001." "F" "" "Japan" "" "0" "" "" "" "" "00166343" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166344" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166345" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166346" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1997:9067750}" "" "M" "" "" "" "0" "" "" "" "" "00166347" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166348" "" "" "" "1" "" "00110" "{PMID:Trujillo 1998:10651486}" "" "M" "" "Spain" "" "0" "" "" "" "" "00166349" "" "" "" "1" "" "00110" "{PMID:Yip 2007:18087237}" "" "M" "" "China" "" "0" "" "" "" "" "00166350" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166351" "" "" "" "1" "" "00110" "{PMID:Nesslinger 1996:8832720}" "" "M" "" "Canada" "" "0" "" "" "Jewish-Ashkenazi" "" "00166352" "" "" "" "1" "" "00110" "{PMID:Jacobson 2006:16936131}" "" "M" "" "" "" "0" "" "" "" "" "00166353" "" "" "" "1" "" "00110" "{PMID:van Bokhoven 1994:7981671}" "" "M" "" "" "" "0" "" "" "" "" "00166354" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166355" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166356" "" "" "" "1" "" "00110" "{PMID:Nesslinger 1996:8832720}" "" "M" "" "" "" "0" "" "" "" "" "00166357" "" "" "" "1" "" "00110" "{PMID:Yau 2007:17333094}" "Carrier" "M" "" "" "" "0" "" "" "" "" "00166358" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166359" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1997:9067750}" "" "M" "" "" "" "0" "" "" "" "" "00166360" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166361" "" "" "" "1" "" "00110" "{PMID:Beaufrère 1997:9441709}" "" "M" "" "France" "" "0" "" "" "" "" "00166362" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166363" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166364" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1997:9067750}" "" "M" "" "" "" "0" "" "" "" "" "00166365" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1997:9067750}" "" "M" "" "" "" "0" "" "" "" "" "00166366" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166367" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166368" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1992:1598901}" "" "M" "" "" "" "0" "" "" "" "" "00166369" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166370" "" "" "" "1" "" "00110" "{PMID:Rudolph 2003:14566650}" "" "M" "" "" "" "0" "" "" "" "" "00166371" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "Canada" "" "0" "" "" "Irish" "" "00166372" "" "" "" "1" "" "00110" "{PMID:Nesslinger 1996:8832720}" "" "M" "" "" "" "0" "" "" "" "" "00166373" "" "" "" "1" "" "00110" "{PMID:Yau 2007:17333094}" "Carrier" "M" "" "" "" "0" "" "" "" "" "00166374" "" "" "" "1" "" "00110" "{PMID:Donnelly 1994:7951216}" "" "M" "" "" "" "0" "" "" "" "" "00166375" "" "" "" "1" "" "00110" "{PMID:van Bokhoven 1994:7981671}" "" "M" "" "" "" "0" "" "" "" "" "00166376" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1992:1598901}" "" "M" "" "" "" "0" "" "" "" "" "00166377" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1992:1598901}" "" "M" "" "" "" "0" "" "" "" "" "00166378" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1992:1598901}" "" "M" "" "" "" "0" "" "" "" "" "00166379" "" "" "" "1" "" "00110" "{PMID:Schwartz 1993:8477262}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00166380" "" "" "" "1" "" "00110" "{PMID:Schwartz 1993:8477262}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00166381" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166382" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166383" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166384" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166385" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166386" "" "" "" "1" "" "00110" "{PMID:Schwartz 1993:8477262}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00166387" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1992:1598901}" "" "M" "" "Germany" "" "0" "" "" "" "" "00166388" "" "" "" "1" "" "00110" "{PMID:Pascal 1993:8242078}" "" "M" "" "France" "" "0" "" "" "" "" "00166389" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "China" "" "0" "" "" "" "" "00166390" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166391" "" "" "" "1" "" "00110" "{PMID:Sankila 1992:1302003}" "" "M" "" "Finland" "" "0" "" "" "" "" "00166392" "" "" "" "1" "" "00110" "{PMID:Beaufrère 1998:9678418}" "" "M" "" "" "" "0" "" "" "" "" "00166393" "" "" "" "1" "" "00110" "{PMID:Jacobson 2006:16936131}" "" "M" "" "" "" "0" "" "" "" "" "00166394" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166395" "" "" "" "1" "" "00110" "{PMID:Schwartz 1993:8477262}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00166396" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166397" "" "" "" "1" "" "00110" "{PMID:Forsythe 1997:9196401}" "" "M" "" "United States" "" "0" "" "" "" "" "00166398" "" "" "" "1" "" "00110" "{PMID:Beaufrère 1996:8956058}" "" "M" "" "France" "" "0" "" "" "" "" "00166399" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166400" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166401" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1997:9067750}" "" "M" "" "" "" "0" "" "" "" "" "00166427" "" "" "" "1" "" "00110" "{PMID:Yau 2007:17333094}" "Carrier" "F" "" "" "" "0" "" "" "" "" "00166428" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166429" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166430" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1997:9067750}" "" "M" "" "" "" "0" "" "" "" "" "00166431" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1997:9067750}" "" "M" "" "" "" "0" "" "" "" "" "00166432" "" "" "" "1" "" "00110" "{PMID:van den Hurk 1997:9067750}" "" "M" "" "" "" "0" "" "" "" "" "00166433" "" "" "" "1" "" "00110" "{PMID:van Bokhoven 1994:7981671}" "" "M" "" "Sweden" "" "0" "" "" "" "" "00166434" "" "" "" "1" "" "00110" "{PMID:van Bokhoven 1994:7981671}" "" "M" "" "Germany" "" "0" "" "" "" "" "00166435" "" "" "" "1" "" "00110" "{PMID:Fujiki 1999:10447648}" "" "M" "" "Japan" "" "0" "" "" "" "" "00166436" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166437" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166438" "" "" "" "1" "" "00110" "{PMID:Ponjavic 1995:8749050}" "" "M" "" "Sweden" "" "0" "" "" "" "" "00166439" "" "" "" "1" "" "00110" "{PMID:van Bokhoven 1994:7981671}" "" "M" "" "Finland" "" "0" "" "" "" "" "00166440" "" "" "" "1" "" "00110" "{PMID:van Bokhoven 1994:7981671}" "" "M" "" "" "" "0" "" "" "" "" "00166441" "" "" "" "1" "" "00110" "{PMID:van Bokhoven 1994:7981671}" "" "M" "" "" "" "0" "" "" "" "" "00166442" "" "" "" "1" "" "00110" "{PMID:Cremers 1990:2220804}" "" "M" "" "Germany" "" "0" "" "" "" "" "00166443" "" "" "" "1" "" "00110" "{PMID:Schwartz 1993:8477262}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00166444" "" "" "" "1" "" "00110" "{PMID:Cremers 1990:2220804}" "" "M" "" "Germany" "" "0" "" "" "" "" "00166445" "" "" "" "1" "" "00110" "{PMID:van Bokhoven 1994:7981671}" "" "M" "" "Sweden" "" "0" "" "" "" "" "00166446" "" "" "" "1" "" "00110" "{PMID:GarciajalopezHoyos 2008:18385043}" "" "M" "" "Spain" "" "0" "" "" "" "" "00166447" "" "" "" "1" "" "00110" "{PMID:Poloschek 2008:18487380}" "Syndromic choroideremia: associated with Martin-Probst deafness mental retardation syndrome." "M" "" "" "" "0" "" "" "" "" "00166448" "" "" "" "1" "" "00110" "{PMID:Poloschek 2008:18487380}" "Syndromic choroideremia: associated with Martin-Probst deafness mental retardation syndrome." "M" "" "" "" "0" "" "" "" "" "00166449" "" "" "" "1" "" "00110" "{PMID:GarciajalopezHoyos 2008:18385043}" "" "M" "" "Spain" "" "0" "" "" "" "" "00166450" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166451" "" "" "" "1" "" "00110" "{PMID:Jacobson 2006:16936131}" "" "M" "" "" "" "0" "" "" "" "" "00166452" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166453" "" "" "" "1" "" "00110" "{PMID:van Bokhoven 1994:7981671}" "" "M" "" "" "" "0" "" "" "" "" "00166454" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166455" "" "" "" "1" "" "00110" "{PMID:Yau 2007:17333094}" "" "F" "" "" "" "0" "" "" "" "" "00166456" "" "" "" "1" "" "00110" "{PMID:Jacobson 2006:16936131}" "" "M" "" "" "" "0" "" "" "" "" "00166457" "" "" "" "1" "" "00110" "{PMID:Cremers 1990:2220804}" "" "M" "" "Finland" "" "0" "" "" "" "" "00166458" "" "" "" "1" "" "00110" "{PMID:Mc Taggart 2002:12203991}" "" "M" "" "" "" "0" "" "" "" "" "00166459" "" "" "" "1" "" "00110" "{PMID:Cremers 1990:2220804}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166460" "" "" "" "1" "" "00110" "{PMID:Schwartz 1993:8477262}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00166461" "" "" "" "1" "" "00110" "{PMID:Cremers 1990:2220804}" "" "M" "" "Germany" "" "0" "" "" "" "" "00166462" "" "" "" "1" "" "00110" "{PMID:Cremers 1990:2220804}" "" "M" "" "Finland" "" "0" "" "" "" "" "00166463" "" "" "" "1" "" "00110" "{PMID:van den Hurk 2003:12827496}" "" "M" "" "" "" "0" "" "" "" "" "00166464" "" "" "" "1" "" "00110" "Preising" "Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6" "M" "" "" "" "0" "" "" "" "" "00166465" "" "" "" "1" "" "00110" "Preising" "Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6" "M" "" "" "" "0" "" "" "" "" "00166466" "" "" "" "1" "" "00110" "Preising" "Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6" "M" "" "" "" "0" "" "" "" "" "00166549" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166550" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166551" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166552" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166553" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "A de novo post-zygotic mutational event in the maternal germline. Patient\'s mother was a germline mosaic." "M" "" "Italy" "" "0" "" "" "" "" "00166554" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166555" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166556" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166557" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166558" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166559" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166560" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "de novo mutation in maternal germline" "M" "" "Italy" "" "0" "" "" "" "" "00166561" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166562" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166563" "" "" "" "1" "" "02420" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166569" "" "" "" "1" "" "02416" "{PMID:Perezjalopezcano 2009:19764077}" "Proband" "M" "" "Mexico" "" "0" "" "" "" "" "00166570" "" "" "" "1" "" "02416" "{PMID:Perezjalopezcano 2009:19764077}" "Relative" "M" "" "Mexico" "" "0" "" "" "" "" "00166571" "" "" "" "1" "" "02416" "{PMID:Perezjalopezcano 2009:19764077}" "Relative" "" "" "Mexico" "" "0" "" "" "" "" "00166572" "" "" "" "1" "" "02416" "{PMID:Perezjalopezcano 2009:19764077}" "Carrier" "F" "" "Mexico" "" "0" "" "" "" "" "00166573" "" "" "" "1" "" "02416" "{PMID:Perezjalopezcano 2009:19764077}" "Proband" "M" "" "Mexico" "" "0" "" "" "" "" "00166574" "" "" "" "1" "" "02416" "{PMID:Perezjalopezcano 2009:19764077}" "Relative" "M" "" "Mexico" "" "0" "" "" "" "" "00166575" "" "" "" "1" "" "02416" "{PMID:Renner 2009:19597113}" "Carrier" "F" "" "" "" "0" "" "" "" "" "00166576" "" "" "" "1" "" "02416" "{PMID:Sergeev 2009:19427510}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166577" "" "" "" "1" "" "02416" "{PMID:Sergeev 2009:19427510}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166578" "" "" "" "1" "" "02416" "{PMID:Sergeev 2009:19427510}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166579" "" "" "" "1" "" "02416" "{PMID:Sergeev 2009:19427510}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166580" "" "" "" "1" "" "02416" "{PMID:Strunnikova 2009:20027300}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166581" "" "" "" "1" "" "02416" "{PMID:Strunnikova 2009:20027300}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166582" "" "" "" "1" "" "02416" "{PMID:Strunnikova 2009:20027300}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166583" "" "" "" "1" "" "02416" "{PMID:Strunnikova 2009:20027300}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166584" "" "" "" "1" "" "02416" "{PMID:Strunnikova 2009:20027300}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166585" "" "" "" "1" "" "02416" "{PMID:Strunnikova 2009:20027300}" "Relative" "M" "" "" "" "0" "" "" "" "" "00166586" "" "" "" "1" "" "02416" "{PMID:Strunnikova 2009:20027300}" "Relative" "M" "" "" "" "0" "" "" "" "" "00166587" "" "" "" "1" "" "02416" "{PMID:Strunnikova 2009:20027300}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166588" "" "" "" "1" "" "02416" "{PMID:McDonald 2009:19422966}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166589" "" "" "" "1" "" "02416" "{PMID:McDonald 2009:19422966}" "Relative" "M" "" "" "" "0" "" "" "" "" "00166885" "" "" "" "1" "" "02416" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166886" "" "" "" "1" "" "02416" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166887" "" "" "" "1" "" "02416" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166888" "" "" "" "1" "" "02416" "{PMID:Esposito 2011:21905166}" "" "M" "" "Italy" "" "0" "" "" "" "" "00166896" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166898" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166899" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166902" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166904" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166906" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "M" "" "" "" "0" "" "" "" "" "00167056" "" "" "" "1" "" "00015" "{PMID: Lin 2011:22025891}" "Family1, patient III:2" "M" "" "China" "" "0" "" "" "" "" "00167057" "" "" "" "1" "" "00015" "{PMID: Lin 2011:22025891}" "Family2, brothers II:2 and II:3" "M" "" "China" "" "0" "" "" "" "" "00167058" "" "" "" "1" "" "00015" "{PMID:Huang 2012:22965595}" "A large CHM family, member IV:1" "M" "" "United States" "" "0" "" "" "" "" "00167059" "" "" "" "1" "" "00015" "{PMID:Zhou 2012:22355242}" "Patient F1-III-1" "M" "" "China" "" "0" "" "" "" "" "00167060" "" "" "" "1" "" "00015" "{PMID:Zhou 2012:22355242}" "Patient F2-III-2" "M" "" "China" "" "0" "" "" "" "" "00167061" "" "" "" "1" "" "00015" "{PMID:Zhou 2012:22355242}" "Patient F3-III-2" "M" "" "China" "" "0" "" "" "" "" "00167120" "" "" "" "1" "" "00015" "{PMID:Chi 2012:23273018}" "" "M" "" "Canada" "" "0" "" "" "" "" "00167727" "" "" "" "1" "" "02426" "{PMID:Dimopoulos IS 2016:27537265}" "No amplification of missing exons" "M" "" "" "" "0" "" "" "" "" "00167728" "" "" "" "1" "" "02426" "{PMID:Freund 2016:27247961}" "" "M" "" "Canada" "" "0" "" "" "" "" "00167729" "" "" "" "1" "" "02426" "{PMID:Freund 2016:27247961}" "" "M" "" "Canada" "" "0" "" "" "" "" "00167730" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167735" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167736" "" "" "" "1" "" "02426" "" "" "M" "" "Taiwan" "" "0" "" "" "Taiwanese" "" "00167737" "" "" "" "1" "" "02426" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167738" "" "" "" "1" "" "02426" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167739" "" "" "" "1" "" "02426" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167740" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167741" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167742" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167743" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167744" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167745" "" "" "" "1" "" "02426" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167746" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167747" "" "" "" "1" "" "02426" "" "" "F" "" "" "" "0" "" "" "" "" "00167748" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167749" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167750" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167751" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167752" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167753" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167754" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167755" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167756" "" "" "" "1" "" "02426" "" "" "" "" "" "" "0" "" "" "" "" "00167757" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167758" "" "" "" "1" "" "02426" "{PMID:Dimopoulos IS 2016:27537265}" "" "M" "" "" "" "0" "" "" "" "" "00167759" "" "" "" "1" "" "02426" "{PMID:Dimopoulos IS 2016:27537265}" "" "M" "" "" "" "0" "" "" "" "" "00167760" "" "" "" "1" "" "02426" "" "" "M" "" "" "" "0" "" "" "" "" "00167761" "" "" "" "1" "" "00110" "{PMID:Heon E 2016:27409497}" "" "M" "" "" "" "0" "" "" "" "" "00167771" "" "" "" "1" "" "02426" "" "" "M" "" "Finland" "" "0" "" "" "Finnish" "" "00167772" "" "" "" "1" "" "02426" "" "" "M" "" "Finland" "" "0" "" "" "Finnish" "" "00167773" "" "" "" "1" "" "02426" "" "" "M" "" "Finland" "" "0" "" "" "Finnish" "" "00167860" "" "" "" "1" "" "02416" "{PMID:Khateb 2016:27208209}" "Proband" "" "" "Israel" "" "0" "" "" "" "" "00167861" "" "" "" "1" "" "02426" "" "" "M" "" "South Africa" "" "0" "" "" "" "" "00167862" "" "" "" "1" "" "00110" "{PMID:Radziwon 2017:28271586}" "" "M" "" "" "" "0" "" "" "" "" "00167863" "" "" "" "1" "" "00110" "{PMID:Radziwon 2017:28271586}" "" "M" "" "" "" "0" "" "" "" "" "00167864" "" "" "" "1" "" "02426" "{PMID:Dimopoulos IS 2016:27537265}" "" "M" "" "Canada" "" "0" "" "" "" "" "00167865" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167867" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "M" "" "" "" "0" "" "" "" "" "00167868" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "M" "" "" "" "0" "" "" "" "" "00167869" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167870" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167871" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167872" "" "" "" "1" "" "00110" "{PMID:Cai XB 2016:27739455}" "" "M" "" "" "" "0" "" "" "" "" "00167873" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167874" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167875" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167876" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167877" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167878" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167879" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167880" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167881" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167882" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167883" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167884" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167885" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167886" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167887" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167888" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167889" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167890" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167891" "" "" "" "1" "" "00110" "{PMID:Dimopoulos IS 2016:27537265}" "" "M" "" "Canada" "" "0" "" "" "" "" "00167892" "" "" "" "1" "" "00110" "{PMID:Battu R 2016:28112135}" "" "M" "" "India" "" "0" "" "" "" "" "00167893" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167894" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167895" "" "" "" "1" "" "02429" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167896" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167897" "" "" "" "1" "" "00110" "{PMID:Zhu L 2017:28098911}" "" "M" "" "China" "" "0" "" "" "" "" "00167898" "" "" "" "1" "" "00110" "{PMID:McLaren TL 2015:25912515}" "" "M" "" "Australia" "" "0" "" "" "" "" "00167899" "" "" "" "1" "" "00110" "{PMID:McLaren TL 2015:25912515}" "" "M" "" "Australia" "" "0" "" "" "" "" "00167900" "" "" "" "1" "" "00110" "{PMID:McLaren TL 2015:25912515}" "" "F" "" "Australia" "" "0" "" "" "" "" "00167901" "" "" "" "1" "" "00110" "{PMID:McLaren TL 2015:25912515}" "" "M" "" "Australia" "" "0" "" "" "" "" "00167902" "" "" "" "1" "" "00110" "{PMID:McLaren TL 2015:25912515}" "" "M" "" "Australia" "" "0" "" "" "" "" "00167903" "" "" "" "1" "" "00110" "{PMID:Khan KN 2016:27506488}" "" "M" "" "" "" "0" "" "" "" "" "00167904" "" "" "" "1" "" "00110" "{PMID:Khan KN 2016:27506488}" "" "M" "" "" "" "0" "" "" "" "" "00167905" "" "" "" "2" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167906" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167907" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167908" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167909" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167910" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167911" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167912" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167913" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167914" "" "" "" "1" "" "00110" "{PMID:Aleman TS 2017:27986385}" "" "" "" "" "" "0" "" "" "" "" "00167915" "" "" "" "1" "" "00110" "{PMID:Sun LW 2016:27936069}" "" "" "" "" "" "0" "" "" "" "" "00167916" "" "" "" "1" "" "00110" "{PMID:Sun LW 2016:27936069}" "" "" "" "" "" "0" "" "" "" "" "00167917" "" "" "" "1" "" "00110" "{PMID:Sun LW 2016:27936069}" "" "" "" "" "" "0" "" "" "" "" "00167918" "" "" "" "1" "" "00110" "{PMID:Dysli C 2016:27951593}" "" "" "" "" "" "0" "" "" "" "" "00167919" "" "" "" "1" "" "00110" "{PMID:Dysli C 2016:27951593}" "" "" "" "" "" "0" "" "" "" "" "00167920" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167921" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167922" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167923" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167924" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167925" "" "" "" "1" "" "00110" "{PMID:Simunovic MP 2017:28152124}" "" "" "" "" "" "0" "" "" "" "" "00167926" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167927" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167928" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167929" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167930" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167931" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167932" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167933" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167934" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167935" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167936" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167937" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167938" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167939" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167940" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167941" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167942" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167943" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167944" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167945" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167946" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167947" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167948" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167949" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167950" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167951" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167952" "" "" "" "1" "" "00110" "{PMID:Cai XB 2016:27739455}" "" "M" "" "China" "" "0" "" "" "" "" "00167953" "" "" "" "1" "" "00110" "{PMID:Cai XB 2016:27739455}" "" "M" "" "China" "" "0" "" "" "" "" "00167954" "" "" "" "1" "" "00110" "{PMID:Simunovic MP 2017:28152124}" "" "" "" "" "" "0" "" "" "" "" "00167955" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "" "" "" "" "0" "" "" "" "" "00167956" "" "" "" "1" "" "00110" "{PMID:Simunovic MP 2016:27820636}" "" "" "" "" "" "0" "" "" "" "" "00167957" "" "" "" "1" "" "00110" "{PMID:Simunovic MP 2016:27820636}" "" "" "" "" "" "0" "" "" "" "" "00167958" "" "" "" "1" "" "00110" "{PMID:Simunovic MP 2016:27820636}" "" "" "" "" "" "0" "" "" "" "" "00167959" "" "" "" "1" "" "00110" "{PMID:Simunovic MP 2016:27820636}" "" "" "" "" "" "0" "" "" "" "" "00167960" "" "" "" "1" "" "00110" "{PMID:Simunovic MP 2016:27820636}" "" "" "" "" "" "0" "" "" "" "" "00167961" "" "" "" "1" "" "00110" "{PMID:Edwards TL 2017:28369842}" "" "" "" "" "" "0" "" "" "" "" "00167962" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167963" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167964" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167965" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167966" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167967" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167968" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167969" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167970" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167971" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167972" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167973" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167974" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167975" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167976" "" "" "" "1" "" "00110" "{PMID:Freund 2016:27247961}" "" "M" "" "" "" "0" "" "" "" "" "00167977" "" "" "" "1" "" "00110" "{PMID:Simunovic MP 2017:28152124}" "" "" "" "" "" "0" "" "" "" "" "00167978" "" "" "" "1" "" "00110" "{PMID:Ramsden SC 2013:23811034}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167979" "" "" "" "1" "" "00110" "{PMID:Xue K 2016:27403996}" "" "" "" "" "" "0" "" "" "" "" "00167980" "" "" "" "1" "" "00110" "{PMID:Xue K 2016:27403996}" "" "" "" "" "" "0" "" "" "" "" "00167981" "" "" "" "1" "" "00110" "{PMID:Xue K 2016:27403996}" "" "" "" "" "" "0" "" "" "" "" "00167982" "" "" "" "1" "" "00110" "{PMID:Xue K 2016:27403996}" "" "" "" "" "" "0" "" "" "" "" "00167983" "" "" "" "1" "" "00110" "{PMID:Xue K 2016:27403996}" "" "" "" "" "" "0" "" "" "" "" "00167984" "" "" "" "1" "" "00110" "{PMID:Xue K 2016:27403996}" "" "" "" "" "" "0" "" "" "" "" "00167985" "" "" "" "1" "" "00110" "{PMID:Jain N 2016:27149258}" "" "F" "" "" "" "0" "" "" "" "" "00167986" "" "" "" "1" "" "00110" "{PMID:Jain N 2016:27149258}" "" "M" "" "" "" "0" "" "" "" "" "00167987" "" "" "" "1" "" "00110" "{PMID:SanchezjalopezAlcudia R 2016:27070432}" "" "M" "" "Spain" "" "0" "" "" "" "" "00167988" "" "" "" "1" "" "00110" "{PMID:SanchezjalopezAlcudia R 2016:27070432}" "" "M" "" "Spain" "" "0" "" "" "" "" "00167989" "" "" "" "1" "" "00110" "{PMID:Li S 2014:24913019}" "2-generation family, 1 affected" "M" "" "China" "" "0" "" "" "" "RP229" "00167990" "" "" "" "4" "" "00110" "{PMID:Li S 2014:24913019}" "3-generation family, 4 affected (4M)" "M" "" "China" "" "0" "" "" "" "RP31" "00167991" "" "" "" "2" "" "00110" "{PMID:Li S 2014:24913019}" "2-generation family, 2 affected (2M), unaffected parents" "M" "" "China" "" "0" "" "" "" "RP285" "00167992" "" "" "" "1" "" "00110" "{PMID:Li S 2014:24913019}" "2-generation family, 1 affected, unaffected parents" "M" "" "China" "" "0" "" "" "" "RP304" "00167993" "" "" "" "1" "" "00110" "{PMID:Li S 2014:24913019}" "2-generation family, 1 affected" "M" "" "China" "" "0" "" "" "" "RP263" "00167994" "" "" "" "1" "" "00110" "{PMID:Shimizu 2015:26327910}" "" "M" "" "" "" "0" "" "" "" "" "00167995" "" "" "" "1" "" "00110" "{PMID:Guo H 2015:26216097}" "" "M" "" "China" "" "0" "" "" "" "" "00167996" "" "" "" "1" "" "00110" "{PMID:Contestabile MT 2014:24672218}" "" "M" "" "Italy" "" "0" "" "" "" "" "00167997" "" "" "" "1" "" "00110" "{PMID:SanchezjalopezAlcudia R 2016:27070432}" "" "M" "" "Spain" "" "0" "" "" "" "" "00167998" "" "" "" "1" "" "00110" "{PMID:SanchezjalopezAlcudia R 2016:27070432}" "" "M" "" "Spain" "" "0" "" "" "" "" "00167999" "" "" "" "1" "" "00110" "{PMID:SanchezjalopezAlcudia R 2016:27070432}" "" "M" "" "Spain" "" "0" "" "" "" "" "00168000" "" "" "" "1" "" "00110" "{PMID:SanchezjalopezAlcudia R 2016:27070432}" "" "M" "" "Spain" "" "0" "" "" "" "" "00168001" "" "" "" "1" "" "00110" "{PMID:SanchezjalopezAlcudia R 2016:27070432}" "" "M" "" "Belgium" "" "0" "" "" "" "" "00168002" "" "" "" "1" "" "00110" "{PMID:SanchezjalopezAlcudia R 2016:27070432}" "" "M" "" "Spain" "" "0" "" "" "" "" "00168003" "" "" "" "1" "" "00110" "{PMID:Jolly JK 2015:26133251}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00168004" "" "" "" "1" "" "00110" "{PMID:Jolly JK 2015:26133251}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00168005" "" "" "" "1" "" "00110" "{PMID:Cideciyan AV 2015:26024124}" "" "" "" "" "" "0" "" "" "" "" "00168006" "" "" "" "1" "" "00110" "{PMID:Seitz 2015:25744334}" "" "M" "" "Germany" "" "0" "" "" "" "" "00168007" "" "" "" "1" "" "00110" "{PMID:Seitz 2015:25744334}" "" "M" "" "Germany" "" "0" "" "" "" "" "00168008" "" "" "" "1" "" "00110" "{PMID:Seitz 2015:25744334}" "" "M" "" "Germany" "" "0" "" "" "" "" "00168009" "" "" "" "1" "" "00110" "{PMID:Seitz 2015:25744334}" "" "M" "" "Germany" "" "0" "" "" "" "" "00168010" "" "" "" "1" "" "00110" "{PMID:Seitz 2015:25744334}" "" "M" "" "Germany" "" "0" "" "" "" "" "00168011" "" "" "" "1" "" "00110" "{PMID:Seitz 2015:25744334}" "" "M" "" "Germany" "" "0" "" "" "" "" "00168012" "" "" "" "1" "" "00110" "{PMID:Seitz 2015:25744334}" "" "M" "" "Germany" "" "0" "" "" "" "" "00168013" "" "" "" "1" "" "00110" "{PMID:Edwards TL 2015:25682176}" "" "F" "" "" "" "0" "" "" "" "" "00168014" "" "" "" "1" "" "00110" "{PMID:Edwards TL 2015:25682176}" "" "F" "" "" "" "0" "" "" "" "" "00168015" "" "" "" "1" "" "00110" "{PMID:Edwards TL 2015:25682176}" "" "F" "" "" "" "0" "" "" "" "" "00168016" "" "" "" "1" "" "00110" "{PMID:Edwards TL 2015:25682176}" "" "F" "" "" "" "0" "" "" "" "" "00168017" "" "" "" "1" "" "00110" "{PMID:Edwards TL 2015:25592124}" "" "M" "" "" "" "0" "" "" "" "" "00168018" "" "" "" "1" "" "00110" "{PMID:Zinkernagel MS 2013:23562166}" "" "" "" "" "" "0" "" "" "" "" "00168019" "" "" "" "1" "" "00110" "{PMID:Zinkernagel MS 2013:23562166}" "" "" "" "" "" "0" "" "" "" "" "00168020" "" "" "" "1" "" "00110" "{PMID:Battu R 2016:28112135}" "" "M" "" "India" "" "0" "" "" "" "" "00168021" "" "" "" "1" "" "00110" "" "Carrier signs" "F" "" "Canada" "" "0" "" "" "" "" "00168022" "" "" "" "1" "" "00110" "{PMID:Bae 2017:28643494}" "" "M" "" "Korea" "" "0" "" "" "" "" "00168023" "" "" "" "1" "" "00110" "{PMID:Jacobson 2006:16936131}" "" "M" "" "Korea" "" "0" "" "" "" "" "00245230" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245231" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245232" "" "" "" "3" "" "03351" "" "eyeGENE Participants, K2+5.2, VYK+5.47, VUU+S.75" "M" "" "United States" "" "0" "" "" "" "" "00245233" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "F" "" "United States" "" "0" "" "" "" "" "00245234" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245235" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245236" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245237" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245238" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245239" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "F" "" "United States" "" "0" "" "" "" "" "00245240" "" "" "" "2" "" "03351" "" "and 4NM+T.33, eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245241" "" "" "" "6" "" "03351" "" "also participants: 47V+J.21, 47V+J.67, 47V+J.80, 47V+J.96, 47V+J.52, eyeGENE Participants" "F" "" "United States" "" "0" "" "" "" "" "00245242" "" "" "" "6" "" "03351" "" "also participants 47V+J.32, 47V+J.33, 47V+J.77, 47V+J.88, 47V+J.44, eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245243" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245244" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245245" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245246" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "F" "" "United States" "" "0" "" "" "" "" "00245247" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245248" "" "" "" "2" "" "03351" "" "eyeGENE Participant, also VF8+R.7 (sibling)" "M" "" "United States" "" "0" "" "" "" "" "00245249" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245250" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245251" "" "" "" "2" "" "03351" "" "eyeGENE Participant, also 5NN+2.55," "M" "" "United States" "" "0" "" "" "" "" "00245252" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245253" "" "" "" "2" "" "03351" "" "eyeGENE Participant, also J5+E.8," "M" "" "United States" "" "0" "" "" "" "" "00245254" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245255" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245256" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245257" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "F" "" "United States" "" "0" "" "" "" "" "00245258" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245259" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245260" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "F" "" "United States" "" "0" "" "" "" "" "00245261" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245262" "" "" "" "2" "" "03351" "" "eyeGENE Participant, also UNR+2.91 (sibling)," "M" "" "United States" "" "0" "" "" "" "" "00245263" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "F" "" "United States" "" "0" "" "" "" "" "00245264" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245265" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245266" "" "" "" "4" "" "03351" "" "eyeGENE Participant, also JV+G.66, LR+H.40, VNS+3.51, ," "M" "" "United States" "" "0" "" "" "" "" "00245267" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245268" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "F" "" "United States" "" "0" "" "" "" "" "00245269" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245270" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245271" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "F" "" "United States" "" "0" "" "" "" "" "00245272" "" "" "" "5" "" "03351" "" "eyeGENE Participant, also 3Y9+9.69, 3Y9+9.99, 4XG+Q.43, 5J6+L.50," "M" "" "United States" "" "0" "" "" "" "" "00245273" "" "" "" "9" "" "03351" "" "eyeGENE Participants, Also 5U3+L.16, V5X+X.47, V5X+X.98, UHY+T.42, UHY+T.59, ULN+5.55, ULN+5.90, UHY+T.75, , ," "F" "" "United States" "" "0" "" "" "" "" "00245274" "" "" "" "10" "" "03351" "" "eyeGENE Participants, also 3TW+5.96, 42R+2.90, 5KK+R.3, LJ+C.18, U4L+U.35, VC3+S.51, ULN+5.7, ULN+5.76, UMU+3.91, ," "M" "" "United States" "" "0" "" "" "" "" "00245275" "" "" "" "4" "" "03351" "" "eyeGENE Participants, also 45Y+Y.77, QU+U.10, V56+S.66, ," "M" "" "United States" "" "0" "" "" "" "" "00245276" "" "" "" "4" "" "03351" "" "eyeGENE Participants, also N7+C.34, 53Z+5.67, VUT+V.85, ," "M" "" "United States" "" "0" "" "" "" "" "00245277" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245278" "" "" "" "2" "" "03351" "" "eyeGENE Participant, also 3J8+8.93 (sibling)," "M" "" "United States" "" "0" "" "" "" "" "00245279" "" "" "" "1" "" "03351" "" "eyeGENE Participant" "M" "" "United States" "" "0" "" "" "" "" "00245280" "" "" "" "2" "" "03351" "" "eyeGENE Participant, also UGH+K.24," "M" "" "United States" "" "0" "" "" "" "" "00245281" "" "" "" "2" "" "03351" "" "and NE+W.41, eyeGENE participants" "M" "" "United States" "" "0" "" "" "" "" "00245282" "" "" "" "1" "" "03351" "" "eyeGENE participant" "F" "" "United States" "" "0" "" "" "" "" "00245283" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245284" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245285" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245286" "" "" "" "1" "" "03351" "" "eyeGENE participant" "F" "" "United States" "" "0" "" "" "" "" "00245287" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245288" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245289" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245290" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245303" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245304" "" "" "" "1" "" "03351" "" "eyeGENE participant" "F" "" "United States" "" "0" "" "" "" "" "00245305" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245306" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245307" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245308" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245309" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245310" "" "" "" "1" "" "03351" "" "" "" "" "United States" "" "0" "" "" "" "" "00245311" "" "" "" "1" "" "03351" "3078127" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245312" "" "" "" "1" "" "03351" "3078127" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245313" "" "" "" "1" "" "03351" "3078127" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245314" "" "" "" "7" "" "03351" "3078127" "and 7F+U.15, N7+C.34, NE+W.26, NE+W.41, QU+U.10, QX+X.2; eyeGENE participants" "M" "" "United States" "" "0" "" "" "" "" "00245315" "" "" "" "1" "" "03351" "1015148" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245316" "" "" "" "6" "" "03351" "" "and HM+C.46, N7+C.34, NE+W.26, NE+W.41, QU+U.10, eyeGENE participants" "M" "" "United States" "" "0" "" "" "" "" "00245317" "" "" "" "2" "" "03351" "" "and 3F6+9.52; eyeGENE participants" "M" "" "United States" "" "0" "" "" "" "" "00245318" "" "" "" "1" "" "03351" "1569506" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245319" "" "" "" "1" "" "03351" "1569506" "eyeGENE participant" "F" "" "United States" "" "0" "" "" "" "" "00245320" "" "" "" "2" "" "03351" "1569506" "and QA+3.76; eyeGENE participants" "M" "" "United States" "" "0" "" "" "" "" "00245321" "" "" "" "1" "" "03351" "" "eyeGENE participant" "F" "" "United States" "" "0" "" "" "" "" "00245322" "" "" "" "1" "" "03351" "" "eyeGENE participant" "F" "" "United States" "" "0" "" "" "" "" "00245323" "" "" "" "4" "" "03351" "10217950" "and 42M+T.35, 47A+P.97, 35X+P.98; eyeGENE participants, ," "F" "" "United States" "" "0" "" "" "" "" "00245324" "" "" "" "9" "" "03351" "10217950" "and VUU+S.75, 3F6+9.10, 3F6+9.52, 6X+F.71, U4M+V.46, UWY+Y.33, UXN+5.48, UAU+S.87; eyeGENE participants" "M" "" "United States" "" "0" "" "" "" "" "00245325" "" "" "" "1" "" "03351" "17252397" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245326" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245327" "" "" "" "1" "" "03351" "" "eyeGENE participant" "F" "" "United States" "" "0" "" "" "" "" "00245328" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245329" "" "" "" "1" "" "03351" "" "eyeGENE participant" "F" "" "United States" "" "0" "" "" "" "" "00245330" "" "" "" "1" "" "03351" "" "eyeGENE participant" "F" "" "United States" "" "0" "" "" "" "" "00245331" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245332" "" "" "" "1" "" "03351" "" "eyeGENE participant" "F" "" "United States" "" "0" "" "" "" "" "00245333" "" "" "" "2" "" "03351" "" "and VRT+4.23; eyeGENE participants" "M" "" "United States" "" "0" "" "" "" "" "00245334" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245335" "" "" "" "1" "" "03351" "" "eyeGENE participant" "F" "" "United States" "" "0" "" "" "" "" "00245336" "" "" "" "2" "" "03351" "" "and MM+Y.74; eyeGENE participants" "M" "" "United States" "" "0" "" "" "" "" "00245337" "" "" "" "1" "" "03351" "" "eyeGENE participant" "M" "" "United States" "" "0" "" "" "" "" "00245338" "" "" "" "1" "" "03351" "" "" "" "" "United States" "" "0" "" "" "" "" "00245339" "" "" "" "1" "" "03351" "" "" "" "" "United States" "" "0" "" "" "" "" "00308677" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" "" "00309039" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309040" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309041" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309042" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309043" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309044" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309045" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309046" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309047" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309048" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309049" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309050" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00320175" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00327646" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam4474PatCIC08017" "00327647" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam214PatCIC00313" "00327648" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam940PatCIC02647" "00327649" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam929PatCIC01910" "00327650" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam1266PatCIC03092" "00327651" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam2518PatCIC04982" "00327652" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam6554PatCIC11354" "00327653" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam860PatCIC01434" "00327654" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam3089PatCIC05904" "00327655" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam6157PatCIC010639" "00327656" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam7004PatCIC12095" "00327657" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam4584PatCIC06320" "00327658" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam4937PatCIC08703" "00327659" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam2724PatCIC01741" "00327660" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam3841PatCIC06996" "00327661" "" "" "" "5" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam301PatCIC00441" "00327662" "" "" "00327661" "1" "" "00228" "Zeitz 2021, submitted" "affected cousin" "" "" "France" "" "0" "" "" "" "Fam301PatCIC09760" "00327663" "" "" "00327661" "1" "" "00228" "Zeitz 2021, submitted" "affected second-cousin of CIC00441" "" "" "France" "" "0" "" "" "" "Fam301PatCIC04101" "00327664" "" "" "00327661" "1" "" "00228" "Zeitz 2021, submitted" "aunt of CIC04101" "" "" "France" "" "0" "" "" "" "Fam301PatCIC05909" "00327665" "" "" "00327661" "1" "" "00228" "Zeitz 2021, submitted" "sister of CIC05909, mother of CIC09760" "" "" "France" "" "0" "" "" "" "Fam301PatCIC05910" "00327666" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam5449PatCIC09490" "00327667" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam6974PatCIC12048" "00327668" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam6995PatCIC12085" "00327669" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam515PatCIC00795" "00327670" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam6460PatCIC11205" "00327671" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam6441PatCIC11171" "00327672" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam6409PatCIC11109" "00327673" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam5748PatCIC09996" "00327674" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam71PatCIC00094" "00327675" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam4768PatCIC08451" "00327676" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam5158PatCIC09046" "00327677" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam5619PatCIC09791" "00327678" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam4582PatCIC01767" "00327679" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam4047PatCIC07347" "00327680" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam471PatCIC00709" "00327681" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam6081PatCIC10530" "00327682" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam4418PatCIC07906" "00327683" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam552PatCIC00855" "00327684" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam3100PatCIC05925" "00327685" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam1954PatCIC04147" "00327686" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam1969PatCIC04169" "00327687" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam5728PatCIC09962" "00327688" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam1970PatCIC04171" "00327689" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam4101PatCIC07426" "00327690" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam3573PatCIC06623" "00327691" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam1893PatCIC04049" "00327692" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam4226PatCIC01746" "00327693" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam4661PatCIC08304" "00327694" "" "" "" "1" "" "00228" "Zeitz 2021, submitted" "" "" "" "France" "" "0" "" "" "" "Fam6456PatCIC11197" "00328201" "" "" "" "2" "" "00000" "{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}" "3-generation family, 2 affected cousins, unaffected heterozygous carrier mother" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007713" "00328520" "" "" "00328201" "1" "" "00000" "{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001372" "00331700" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19524" "00332177" "" "" "" "1" "" "00006" "{PMID:de CastrojalopezMiro 2018:29367200}" "4-generation family, 5 affected males" "M" "" "Spain" "" "0" "" "" "" "Fam2NCE" "00332178" "" "" "" "3" "" "00006" "{PMID:de CastrojalopezMiro 2018:29367200}" "2-generation family, 5 affected (2F, 3M), mix of different phenotypes" "M" "" "Spain" "" "0" "" "" "" "Fam8NCEPatIII/2/5/7" "00332179" "" "" "00332178" "1" "" "00006" "{PMID:de CastrojalopezMiro 2018:29367200}" "affected female" "F" "" "" "" "0" "" "" "" "Fam8NCEPatIv3" "00332180" "" "" "" "5" "" "00006" "{PMID:de CastrojalopezMiro 2018:29367200}" "4-generation family, 4 affected males" "M" "" "Spain" "" "0" "" "" "" "Fam50ORG" "00333393" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD6–08" "00333740" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "930" "00333741" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "931" "00333742" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "932" "00333743" "" "" "" "6" "" "00000" "{PMID:Stone 2017:28559085}" "family, 6 affected" "M" "" "(United States)" "" "0" "" "" "" "933" "00333744" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "934" "00333745" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "935" "00333746" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "936" "00333747" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "937" "00333748" "" "" "" "3" "" "00000" "{PMID:Stone 2017:28559085}" "family, 3 affected" "F" "" "(United States)" "" "0" "" "" "" "938" "00333749" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "939" "00333750" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "940" "00333751" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "941" "00333752" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "942" "00333753" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "943" "00335319" "" "" "" "1" "" "02485" "{PMID:BravojalopezGil 2017:28157192}" "family" "" "" "Spain" "" "0" "" "" "" "Pat11" "00335320" "" "" "" "1" "" "02485" "{PMID:BravojalopezGil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat94" "00335322" "" "" "" "1" "" "02485" "{PMID:BravojalopezGil 2017:28157192}" "patient" "F" "" "Spain" "" "0" "" "" "" "Pat116" "00335966" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00358721" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358722" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358723" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358724" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358725" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358793" "" "" "" "1" "" "00000" "{PMID:Zhang 2016:27596865}" "family" "M" "" "United States" "" "0" "" "" "Hispanic" "BLM049" "00358955" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case29870" "00359120" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13012171" "00359150" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12010854" "00361923" "" "" "" "11" "" "04043" "{PMID:Fadaie 2021:34795310}, {PMID:Fadaie 2021:35047838}{PMID:Capasso 2025:40251809}" "4-generation family, 11 affected (3F, 8M), 6 carrier unaffected females" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamA;Pat5" "00363499" "" "" "" "1" "" "04059" "" "" "M" "" "Spain" ">14y" "" "" "" "White" "IM20-0021" "00363576" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00051" "00372520" "" "" "" "2" "" "00006" "{PMID:Xu 2015:25999675}" "4-generation family, 4 affected (2M), unaffected parents" "M" "" "China" "" "0" "" "" "" "RP359" "00373358" "" "" "" "1" "" "00000" "{PMID:Van Huet 2015:25999674}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00373865" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "family" "" "" "Northern Ireland" "" "0" "" "" "" "Rp150" "00373876" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-563-1155" "00375355" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K1956" "00377226" "" "" "" "3" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "334" "00377227" "" "" "00377226" "1" "" "00000" "Tracewska 2021, MolVis in press" "brother" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "501" "00377228" "" "" "00377226" "1" "" "00000" "Tracewska 2021, MolVis in press" "mother\'s sister\'s son" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "505" "00377497" "" "" "" "1" "" "00000" "{PMID:MartinjalopezMerida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "RP-2204" "00377498" "" "" "" "1" "" "00000" "{PMID:MartinjalopezMerida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "RP-2518" "00378011" "" "" "" "1" "" "03508" "" "" "M" "" "" "" "" "" "" "" "IR_SS_0039" "00379670" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0059" "00379744" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GS_0086" "00379819" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016102426" "00380183" "" "" "" "1" "" "00000" "{PMID:EzquerrajalopezInchausti 2018:30337596}" "Family RP17, II:2" "?" "no" "Spain" "" "0" "" "" "" "II:2" "00380184" "" "" "" "1" "" "00000" "{PMID:EzquerrajalopezInchausti 2018:30337596}" "Family RP17, II:3" "?" "no" "Spain" "" "0" "" "" "" "II:3" "00381793" "" "" "" "1" "" "00000" "{PMID:Cortonjalopez2013:23940504}" "" "" "no" "" "" "0" "" "" "Spanish" "P-07-0360" "00382251" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "80" "00382252" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "81" "00383523" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?" "00384240" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13014" "00384445" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14563" "00384475" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14752" "00384502" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14950" "00386160" "" "" "" "1" "" "00000" "{PMID:RodriguezjalopezMunoz 2020:32036094}" "family fRPN-100, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-234" "00386707" "" "" "" "1" "" "00000" "{PMID:Zampaglionejalopez2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2833_004418" "00386762" "" "" "" "1" "" "00000" "{PMID:Zampaglionejalopez2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2911_004496" "00388547" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.008" "00388559" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.020" "00388740" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 13, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "24" "00388741" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 13, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "25" "00388742" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 13, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "26" "00388743" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 14, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "27" "00388749" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 18, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "33" "00388757" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 19, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "41" "00388805" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 44, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "89" "00388806" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 44, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "90" "00388830" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 51, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "114" "00388837" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 54, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "121" "00388864" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 62, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "148" "00388868" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 64, choroideremia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "152" "00388869" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 64, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "153" "00388870" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 64, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "154" "00388890" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 68, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "174" "00388902" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 70, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "186" "00388908" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 72, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "192" "00388926" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 75, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "210" "00388929" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 76, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "213" "00388930" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 76, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "214" "00388935" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 77, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "219" "00388938" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 78, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "222" "00388939" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 79, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "223" "00388946" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 80, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "230" "00388949" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 81, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "233" "00388958" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 83, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "242" "00388961" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 84, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "245" "00388966" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 85, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "250" "00388967" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 85, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "251" "00388970" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 86, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "254" "00388974" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 87, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "258" "00388977" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 88, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "261" "00388978" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 88, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "262" "00388979" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 89, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "263" "00388980" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 89, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "264" "00388986" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 91, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "270" "00388989" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 92, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "273" "00388999" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 93, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "283" "00389001" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 94, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "285" "00389002" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 94, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "286" "00389005" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 95, choroideremia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "289" "00389010" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 97, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "294" "00389014" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 99, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "298" "00389035" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 105, choroideremia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "319" "00389036" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 105, choroideremia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "320" "00389037" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 105, choroideremia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "321" "00389038" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 105, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "322" "00389042" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 106, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "326" "00389043" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 107, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "327" "00389044" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 108, choroideremia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "328" "00391154" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "116" "00391550" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "Indian" "47" "00391551" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "white" "48" "00391552" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "white" "49" "00392597" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "55" "00392628" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "103" "00392674" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "169" "00393459" "" "" "" "1" "" "00000" "{PMID:Liujalopez2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393460" "" "" "" "1" "" "00000" "{PMID:Liujalopez2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393464" "" "" "" "1" "" "00000" "{PMID:Liujalopez2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393465" "" "" "" "1" "" "00000" "{PMID:Liujalopez2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393518" "" "" "" "1" "" "00000" "{PMID:Liujalopez2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393539" "" "" "" "1" "" "00000" "{PMID:Liujalopez2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393564" "" "" "" "1" "" "00000" "{PMID:Liujalopez2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393585" "" "" "" "1" "" "00000" "{PMID:Liujalopez2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393639" "" "" "" "1" "" "00000" "{PMID:Liujalopez2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393644" "" "" "" "1" "" "00000" "{PMID:Liujalopez2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393680" "" "" "" "1" "" "00000" "{PMID:Liujalopez2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393822" "" "" "" "1" "" "00000" "{PMID:Liujalopez2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00394361" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "CHM1" "00394362" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "CHM2" "00394802" "" "" "" "1" "" "00000" "{PMID:Kim 2021:33946315}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "22-30" "00394803" "" "" "" "1" "" "00000" "{PMID:Kim 2021:33946315}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "22-31" "00394805" "" "" "" "1" "" "00000" "{PMID:Kim 2021:33946315}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "72-112" "00394806" "" "" "" "1" "" "00000" "{PMID:Kim 2021:33946315}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "72-113" "00394809" "" "" "" "1" "" "00000" "{PMID:Kim 2021:33946315}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "193-261" "00395860" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F177" "00395947" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F164" "00396462" "" "" "" "1" "" "00006" "{PMID:Ellingford 2017:28378820}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15015817" "00398355" "" "" "" "1" "" "00000" "{PMID:Zhou 2017:28774736}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00398356" "" "" "" "1" "" "00000" "{PMID:Zhou 2017:28774736}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00398357" "" "" "" "1" "" "00000" "{PMID:Zhou 2017:28774736}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00398358" "" "" "" "1" "" "00000" "{PMID:Zhou 2017:28774736}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00398359" "" "" "" "1" "" "00000" "{PMID:Zhou 2017:28774736}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00398360" "" "" "" "1" "" "00000" "{PMID:Zhou 2017:28774736}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00398361" "" "" "" "1" "" "00000" "{PMID:Zhou 2017:28774736}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00398362" "" "" "" "1" "" "00000" "{PMID:Zhou 2017:28774736}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00398363" "" "" "" "1" "" "00000" "{PMID:Zhou 2017:28774736}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00398364" "" "" "" "1" "" "00000" "{PMID:Torriano 2017:28911202}" "" "M" "" "France" "" "0" "" "" "" "" "00398365" "" "" "" "1" "" "00000" "{PMID:Torriano 2017:28911202}" "" "M" "" "France" "" "0" "" "" "" "" "00398366" "" "" "" "1" "" "00000" "{PMID:Torriano 2017:28911202}" "" "M" "" "France" "" "0" "" "" "" "" "00398367" "" "" "" "1" "" "00000" "{PMID:Skorczyk-Werner 2018:30541579}" "" "M" "" "Poland" "" "0" "" "" "Polish" "" "00398368" "" "" "" "1" "" "00000" "{PMID:Skorczyk-Werner 2018:30541579}" "" "M" "" "Poland" "" "0" "" "" "Polish" "" "00398369" "" "" "" "1" "" "00000" "{PMID:Skorczyk-Werner 2018:30541579}" "" "M" "" "Poland" "" "0" "" "" "Polish" "" "00398370" "" "" "" "1" "" "00000" "{PMID:Skorczyk-Werner 2018:30541579}" "dizygotic twin brother of P-5" "M" "no" "Poland" "" "0" "" "" "Polish" "" "00398371" "" "" "" "1" "" "00000" "{PMID:Skorczyk-Werner 2018:30541579}" "dizygotic twin brother of P-4" "M" "" "Poland" "" "0" "" "" "Polish" "" "00398372" "" "" "" "1" "" "00000" "{PMID:Skorczyk-Werner 2018:30541579}" "" "M" "" "Poland" "" "0" "" "" "Polish" "" "00398373" "" "" "" "1" "" "00000" "{PMID:Pidro 2019:31097864}" "" "M" "" "Bosnia and Herzegovina" "" "0" "" "" "" "" "00398374" "" "" "" "1" "" "00000" "{PMID:Pidro 2019:31097864}" "carrier" "F" "" "Bosnia and Herzegovina" "" "0" "" "" "" "" "00398375" "" "" "" "1" "" "00000" "{PMID:Iftikhar 2019:31253224}" "His mother and grandmother also reported difficulty seeing in low light situations" "M" "no" "" "" "0" "" "" "Turkish" "" "00398376" "" "" "" "1" "" "00000" "{PMID:Mucciolo 2019:31416074}" "" "" "" "" "" "0" "" "" "" "P1" "00398377" "" "" "" "1" "" "00000" "{PMID:Mucciolo 2019:31416074}" "" "" "" "" "" "0" "" "" "" "P2" "00398378" "" "" "" "1" "" "00000" "{PMID:Mucciolo 2019:31416074}" "" "" "" "" "" "0" "" "" "" "P3" "00398379" "" "" "" "1" "" "00000" "{PMID:Mucciolo 2019:31416074}" "" "" "" "" "" "0" "" "" "" "P4" "00398380" "" "" "" "1" "" "00000" "{PMID:Mucciolo 2019:31416074}" "" "" "" "" "" "0" "" "" "" "P5" "00398381" "" "" "" "1" "" "00000" "{PMID:Mucciolo 2019:31416074}" "" "" "" "" "" "0" "" "" "" "P6" "00398382" "" "" "" "1" "" "00000" "{PMID:Ben-Charfeddine 2015:26411914}" "His mother (III.5) and fifth daughters are carriers and his three brothers (IV.11, IV.13 and IV.17) suffered from choroideremia." "M" "yes" "Tunisia" "" "0" "" "" "tunisian" "" "00398383" "" "" "" "1" "" "00000" "{PMID:Ben-Charfeddine 2015:26411914}" "" "M" "yes" "Tunisia" "" "0" "" "" "tunisian" "" "00398384" "" "" "" "1" "" "00000" "{PMID:Ben-Charfeddine 2015:26411914}" "Carrier" "F" "yes" "Tunisia" "" "0" "" "" "tunisian" "" "00398385" "" "" "" "1" "" "00000" "{PMID:Ouyang 2017:29620233}" "" "M" "?" "China" "" "0" "" "" "" "" "00398386" "" "" "" "1" "" "00000" "{PMID:Ouyang 2017:29620233}" "" "F" "?" "China" "" "0" "" "" "" "" "00398387" "" "" "" "1" "" "00000" "{PMID:Sengillo 2018:29045269}" "Proband" "M" "?" "" "" "0" "" "" "cuban" "" "00398388" "" "" "" "1" "" "00000" "{PMID:Sengillo 2018:29045269}" "Mother of III:1" "F" "?" "" "" "0" "" "" "" "" "00398389" "" "" "" "1" "" "00000" "{PMID:Kontos 2019:30690895}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00398390" "" "" "" "1" "" "00000" "{PMID:daPalma 2020:32097478}" "His heterozygite daughter is an asymptomatic carrier" "M" "?" "Brazil" "" "0" "" "" "" "" "00398391" "" "" "" "1" "" "00000" "{PMID:Dan 2020:32364220}" "mother of III:2" "F" "?" "China" "" "0" "" "" "" "" "00398392" "" "" "" "1" "" "00000" "{PMID:Dan 2020:32364220}" "uncle of III:2" "M" "?" "China" "" "0" "" "" "" "" "00398393" "" "" "" "1" "" "00000" "{PMID:Dan 2020:32364220}" "daughter of III:2" "F" "?" "China" "" "0" "" "" "" "" "00398394" "" "" "" "1" "" "00000" "{PMID:Gao 2020:32487042}" "" "M" "?" "China" "" "0" "" "" "" "" "00398395" "" "" "" "1" "" "00000" "{PMID:Gao 2020:32487042}" "van Bokhoven H, 19994. Jolly JK, 2015." "M" "?" "China" "" "0" "" "" "" "" "00398396" "" "" "" "1" "" "00000" "{PMID:Gao 2020:32487042}" "" "M" "?" "China" "" "0" "" "" "" "" "00398397" "" "" "" "1" "" "00000" "{PMID:Gao 2020:32487042}" "" "M" "?" "China" "" "0" "" "" "" "" "00398398" "" "" "" "1" "" "00000" "{PMID:Gao 2020:32487042}" "" "M" "?" "China" "" "0" "" "" "" "" "00398399" "" "" "" "1" "" "00000" "{PMID:Gao 2020:32487042}" "" "M" "?" "China" "" "0" "" "" "" "" "00398400" "" "" "" "1" "" "00000" "{PMID:Gao 2020:32487042}" "" "M" "?" "China" "" "0" "" "" "" "" "00398401" "" "" "" "1" "" "00000" "{PMID:Jones 2020:32441177}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00398402" "" "" "" "1" "" "00000" "{PMID:Fioretti 2020:32949230}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00398403" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F1-JU0097" "00398404" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F2-JU0141" "00398405" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F2-JU0462" "00398406" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F2-JU0463" "00398407" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F3-JU0395" "00398408" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F4-JU0425" "00398409" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F5-JU0426" "00398410" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F7-JU0752" "00398411" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F7-JU1817" "00398412" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F8-JU1059" "00398413" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F9-JU1248" "00398414" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F10-JU1254" "00398415" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F11-JU1457" "00398416" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F11-JU1458" "00398417" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F11-JU1520" "00398418" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F12-JU1681" "00398419" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F13-JU1808" "00398420" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F13-JU1877" "00398421" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F14-JU1831" "00398422" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F15-JU1835" "00398423" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:32985515}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "F16-JU1688" "00398424" "" "" "" "1" "" "00000" "{PMID:Vitale 2020:33062396}" "" "M" "?" "United States" "" "0" "" "" "" "" "00398425" "" "" "" "1" "" "00000" "{PMID:Vitale 2020:33062396}" "" "M" "?" "United States" "" "0" "" "" "" "" "00398426" "" "" "" "1" "" "00000" "{PMID:Vitale 2020:33062396}" "" "M" "?" "United States" "" "0" "" "" "" "" "00398427" "" "" "" "1" "" "00000" "{PMID:Vitale 2020:33062396}" "had a mild CHM mutation but no visual complaints" "M" "?" "United States" "" "0" "" "" "" "" "00398428" "" "" "" "1" "" "00000" "{PMID:Vitale 2020:33062396}" "" "M" "?" "United States" "" "0" "" "" "" "" "00398429" "" "" "" "1" "" "00000" "{PMID:Vitale 2020:33062396}" "" "M" "?" "United States" "" "0" "" "" "" "" "00398430" "" "" "" "1" "" "00000" "{PMID:Vitale 2020:33062396}" "" "M" "?" "United States" "" "0" "" "" "" "" "00398431" "" "" "" "1" "" "00000" "{PMID:Vitale 2020:33062396}" "" "M" "?" "United States" "" "0" "" "" "" "" "00398432" "" "" "" "1" "" "00000" "{PMID:Vitale 2020:33062396}" "" "M" "?" "United States" "" "0" "" "" "" "" "00398433" "" "" "" "1" "" "00000" "{PMID:Vitale 2020:33062396}" "" "M" "?" "United States" "" "0" "" "" "" "" "00398434" "" "" "" "1" "" "00000" "{PMID:Vitale 2020:33062396}" "" "M" "?" "United States" "" "0" "" "" "" "" "00398435" "" "" "" "1" "" "00000" "{PMID:Vitale 2020:33062396}" "" "M" "?" "United States" "" "0" "" "" "" "" "00398436" "" "" "" "1" "" "00000" "{PMID:Ortiz-ramirez 2020:32835561}" "had been diagnosed previously with X-linked retinitis pigmen" "M" "?" "" "" "0" "" "" "" "" "00398437" "" "" "" "1" "" "00000" "{PMID:Ortiz-ramirez 2020:32835561}" "" "F" "?" "" "" "0" "" "" "" "" "00398438" "" "" "" "1" "" "00000" "{PMID:Iftikhar 2019:31253224}" "His mother and maternal grandmother had similar, but less pronounced complaints." "M" "no" "Turkey" "" "0" "" "" "Turkish" "" "00398441" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398442" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398443" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Brother" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398444" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Mother: Obligate carrier" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398445" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398446" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Maternal uncle" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398447" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Mother: Obligate carrier" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398448" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Maternal aunt: Obligate carrier (Affected)" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398449" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Maternal aunt: Obligate carrier" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398450" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398451" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Brother" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398452" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Daughter: Obligate carrier" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398453" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband; Clinically diagnosed as manifesting CHM carrier. No affected males identi?ed in family." "F" "" "Australia" "" "0" "" "" "Australian" "" "00398454" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398455" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398456" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Mother: Obligate carrier" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398457" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Daughter: Obligate carrier" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398458" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband: Obligate carrier" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398459" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Son; asymptomatic" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398460" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398461" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Brother" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398462" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Mother: Obligate carrier" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398463" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Maternal aunt: Obligate carrier" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398464" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398465" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Mother: Obligate carrier" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398466" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398467" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband; Analyzed ?rst for variants in XLRP genes, RP2 and RPGR" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398468" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Mother: Obligate carrier" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398469" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband; CHM variant ?rst identi?ed via targeted NGS (performed given the participant’s initial diagnosis of retinitis pigmentosa)" "F" "" "Australia" "" "0" "" "" "Australian" "" "00398470" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Son; Asymptomatic" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398471" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Proband; Analyzed ?rst for variants in XLRP genes, RP2 and RPGR" "M" "" "Australia" "" "0" "" "" "Australian" "" "00398472" "" "" "" "1" "" "00000" "{PMID:McLaren 2020:33110609}" "Mother: Obligate carrier" "F" "" "Australia" "" "0" "" "" "Australian" "" "00407144" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "1" "00407145" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" 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"" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "12" "00407156" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "South Asian" "13" "00407157" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "14" "00407158" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "15" "00407159" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "South Asian" "16" "00407160" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "17" "00407161" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "18" "00407162" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "South Asian" "19" "00407163" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "novel" "M" "" "" "" "0" "" "" "Caucasian" "20" "00407164" "" "" "" "1" "" "00000" 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"" "M" "" "" "" "0" "" "" "Caucasian" "58" "00407202" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "59" "00407203" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "60" "00407204" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "61" "00407205" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "62" "00407206" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "63" "00407207" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "64" "00407208" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "65" "00407209" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "66" "00407210" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" 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"1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "77" "00407221" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "78" "00407222" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "79" "00407223" "" "" "" "1" "" "00000" "{PMID:Dubis 2021:33440637}" "" "M" "" "" "" "0" "" "" "Caucasian" "80" "00414477" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP144" "00420487" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F164" "00420498" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F177" "00429669" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00430014" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00430126" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00447063" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "CHM-15" "00447064" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "CHM-27-1" "00447065" "" "" "00447064" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "M" "" "Germany" "" "0" "" "" "" "CHM-27-2" "00447066" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CHM-109" "00447067" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CHM-111" "00447068" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CHM-112" "00447069" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "CHM-119" "00447070" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CHM-120" "00447071" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CHM-122" "00447072" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CHM-123" "00447073" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CHM-126" "00447074" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CHM-129" "00447308" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1220" "00447526" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CD-623" "00467829" "" "" "" "1" "" "00006" "{PMID:Hussain 2023:36833373}" "2-generation family, 1 affected, unaffected parents" "M" "" "United States" "" "0" "" "" "white" "MEP-395" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 969 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00164773" "02223" "00164774" "02223" "00164775" "02223" "00166252" "00187" "00166253" "00187" "00166254" "00187" "00166255" "02223" "00166256" "02223" "00166257" "02223" "00166258" "02223" "00166259" "02223" "00166260" "02223" "00166261" "02223" "00166262" "02223" "00166263" "02223" "00166264" "00198" "00166265" "02223" "00166266" "02223" "00166267" "00198" "00166268" "02223" "00166269" "02223" "00166270" "02223" "00166271" "02223" "00166272" "02223" "00166273" "02223" "00166274" "02223" "00166275" "02223" "00166276" "02223" "00166277" "02223" "00166278" "02223" "00166279" "02223" "00166280" "00198" "00166281" "00198" "00166282" "02223" "00166283" "02223" "00166284" "02223" "00166285" "02223" "00166286" "02223" "00166287" "02223" 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"00407157" "04214" "00407158" "04214" "00407159" "04214" "00407160" "04214" "00407161" "04214" "00407162" "04214" "00407163" "04214" "00407164" "04214" "00407165" "04214" "00407166" "04214" "00407167" "04214" "00407168" "04214" "00407169" "04214" "00407170" "04214" "00407171" "04214" "00407172" "04214" "00407173" "04214" "00407174" "04214" "00407175" "04214" "00407176" "04214" "00407177" "04214" "00407178" "04214" "00407179" "04214" "00407180" "04214" "00407181" "04214" "00407182" "04214" "00407183" "04214" "00407184" "04214" "00407185" "04214" "00407186" "04214" "00407187" "04214" "00407188" "04214" "00407189" "04214" "00407190" "04214" "00407191" "04214" "00407192" "04214" "00407193" "04214" "00407194" "04214" "00407195" "04214" "00407196" "04214" "00407197" "04214" "00407198" "04214" "00407199" "04214" "00407200" "04214" "00407201" "04214" "00407202" "04214" "00407203" "04214" "00407204" "04214" "00407205" "04214" "00407206" "04214" "00407207" "04214" "00407208" "04214" "00407209" "04214" "00407210" "04214" "00407211" "04214" "00407212" "04214" "00407213" "04214" "00407214" "04214" "00407215" "04214" "00407216" "04214" "00407217" "04214" "00407218" "04214" "00407219" "04214" "00407220" "04214" "00407221" "04214" "00407222" "04214" "00407223" "04214" "00414477" "00198" "00420487" "04214" "00420498" "04214" "00429669" "00112" "00430014" "04214" "00430126" "00112" "00447063" "00198" "00447064" "00198" "00447065" "00198" "00447066" "00198" "00447067" "00198" "00447068" "00198" "00447069" "00198" "00447070" "00198" "00447071" "00198" "00447072" "00198" "00447073" "00198" "00447074" "00198" "00447308" "00198" "00447526" "00198" "00467829" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00187, 00198, 01157, 01680, 02223, 04211, 04214, 05086, 05426 ## Count = 963 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000129791" "02223" "00164773" "00110" "Familial, X-linked recessive" "" "HP:0001139" "" "" "" "" "" "" "" "" "" "" "" "" "0000129792" "02223" "00164774" "00110" "Unknown" "" "HP:0001139" "" "" "" "" "" "" "" "" "" "" "" "" "0000129793" "02223" "00164775" "00110" "Unknown" "" "HP:0001139" "" "" "" "" "" "" "" "" "" "" "" "" "0000131116" "00187" "00166252" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000131117" "00187" "00166253" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000131118" "00187" "00166254" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000131119" "02223" "00166255" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131120" "02223" "00166256" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131121" "02223" "00166257" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131122" "02223" "00166258" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131123" "02223" "00166259" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131124" "02223" "00166260" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131125" "02223" "00166261" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131126" "02223" "00166262" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131127" "02223" "00166263" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131128" "00198" "00166264" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000131129" "02223" "00166265" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131130" "02223" "00166266" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131131" "00198" "00166267" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000131132" "02223" "00166268" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131133" "02223" "00166269" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131134" "02223" "00166270" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131135" "02223" "00166271" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131136" "02223" "00166272" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131137" "02223" "00166273" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131138" "02223" "00166274" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131139" "02223" "00166275" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131140" "02223" "00166276" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131141" "02223" "00166277" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131142" "02223" "00166278" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131143" "02223" "00166279" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131144" "00198" "00166280" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000131145" "00198" "00166281" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000131146" "02223" "00166282" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131147" "02223" "00166283" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131148" "02223" "00166284" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131149" "02223" "00166285" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131150" "02223" "00166286" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131151" "02223" "00166287" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131152" "02223" "00166288" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131153" "02223" "00166289" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131154" "02223" "00166290" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131155" "02223" "00166291" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131156" "02223" "00166292" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131157" "02223" "00166293" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131158" "02223" "00166294" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131159" "02223" "00166295" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131160" "02223" "00166296" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131161" "02223" "00166297" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131162" "02223" "00166298" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131163" "02223" "00166299" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131164" "02223" "00166300" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131165" "02223" "00166301" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131166" "02223" "00166302" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131167" "02223" "00166303" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131168" "02223" "00166304" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131169" "02223" "00166305" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131170" "02223" "00166306" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131171" "02223" "00166307" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131172" "02223" "00166308" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131173" "02223" "00166309" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131174" "02223" "00166310" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131175" "02223" "00166311" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131176" "02223" "00166312" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131177" "02223" "00166313" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131178" "02223" "00166314" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131179" "02223" "00166315" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131180" "02223" "00166316" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131181" "02223" "00166317" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131182" "02223" "00166318" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131183" "02223" "00166319" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131184" "02223" "00166320" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131185" "02223" "00166321" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131186" "02223" "00166322" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131187" "02223" "00166323" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131188" "02223" "00166324" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131189" "02223" "00166325" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131190" "02223" "00166326" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131191" "02223" "00166327" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131192" "02223" "00166328" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131193" "02223" "00166329" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131194" "02223" "00166330" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131195" "00198" "00166331" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000131196" "02223" "00166332" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131197" "02223" "00166333" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131198" "02223" "00166334" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131199" "02223" "00166335" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131200" "02223" "00166336" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131201" "02223" "00166337" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131202" "02223" "00166338" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131203" "02223" "00166339" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131204" "02223" "00166340" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131205" "02223" "00166341" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131206" "00198" "00166342" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000131207" "02223" "00166343" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131208" "02223" "00166344" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131209" "02223" "00166345" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131210" "02223" "00166346" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131211" "02223" "00166347" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131212" "02223" "00166348" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131213" "02223" "00166349" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131214" "02223" "00166350" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131215" "02223" "00166351" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131216" "02223" "00166352" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131217" "02223" "00166353" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131218" "02223" "00166354" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131219" "02223" "00166355" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131220" "02223" "00166356" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131221" "02223" "00166357" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131222" "02223" "00166358" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131223" "02223" "00166359" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131224" "02223" "00166360" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131225" "02223" "00166361" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131226" "02223" "00166362" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131227" "02223" "00166363" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131228" "02223" "00166364" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131229" "02223" "00166365" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131230" "02223" "00166366" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131231" "02223" "00166367" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131232" "02223" "00166368" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131233" "02223" "00166369" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131234" "02223" "00166370" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131235" "02223" "00166371" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131236" "02223" "00166372" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131237" "02223" "00166373" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131238" "02223" "00166374" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131239" "02223" "00166375" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131240" "02223" "00166376" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131241" "02223" "00166377" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131242" "02223" "00166378" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131243" "02223" "00166379" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131244" "02223" "00166380" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131245" "02223" "00166381" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131246" "02223" "00166382" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131247" "02223" "00166383" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131248" "02223" "00166384" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131249" "02223" "00166385" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131250" "02223" "00166386" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131251" "02223" "00166387" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131252" "02223" "00166388" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131253" "02223" "00166389" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131254" "02223" "00166390" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131255" "02223" "00166391" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131256" "02223" "00166392" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131257" "02223" "00166393" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131258" "02223" "00166394" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131259" "02223" "00166395" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131260" "02223" "00166396" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131261" "02223" "00166397" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131262" "02223" "00166398" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131263" "02223" "00166399" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131264" "02223" "00166400" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131265" "02223" "00166401" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131291" "02223" "00166427" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131292" "02223" "00166428" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131293" "02223" "00166429" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131294" "02223" "00166430" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131295" "02223" "00166431" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131296" "02223" "00166432" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131297" "02223" "00166433" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131298" "02223" "00166434" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131299" "02223" "00166435" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131300" "02223" "00166436" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131301" "02223" "00166437" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131302" "02223" "00166438" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131303" "02223" "00166439" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131304" "02223" "00166440" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131305" "02223" "00166441" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131306" "02223" "00166442" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131307" "02223" "00166443" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131308" "02223" "00166444" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131309" "02223" "00166445" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131310" "02223" "00166446" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131311" "02223" "00166447" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131312" "02223" "00166448" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131313" "02223" "00166449" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131314" "02223" "00166450" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131315" "02223" "00166451" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131316" "02223" "00166452" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131317" "02223" "00166453" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131318" "02223" "00166454" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131319" "02223" "00166455" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131320" "02223" "00166456" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131321" "02223" "00166457" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131322" "02223" "00166458" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131323" "02223" "00166459" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131324" "02223" "00166460" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131325" "02223" "00166461" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131326" "02223" "00166462" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131327" "02223" "00166463" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131328" "02223" "00166464" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131329" "02223" "00166465" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131330" "02223" "00166466" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131413" "02223" "00166549" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131414" "02223" "00166550" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131415" "02223" "00166551" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131416" "02223" "00166552" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131417" "02223" "00166553" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131418" "02223" "00166554" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131419" "02223" "00166555" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131420" "02223" "00166556" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131421" "02223" "00166557" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131422" "02223" "00166558" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131423" "02223" "00166559" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131424" "02223" "00166560" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131425" "02223" "00166561" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131426" "02223" "00166562" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131427" "02223" "00166563" "02420" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131433" "02223" "00166569" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131434" "02223" "00166570" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131435" "02223" "00166571" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131436" "02223" "00166572" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131437" "02223" "00166573" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131438" "02223" "00166574" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131439" "00000" "00166575" "02416" "Unknown" "" "Displays visual symptoms" "" "" "" "" "" "" "" "" "" "" "" "" "0000131440" "02223" "00166576" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131441" "02223" "00166577" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131442" "02223" "00166578" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131443" "02223" "00166579" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131444" "02223" "00166580" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131445" "02223" "00166581" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131446" "02223" "00166582" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131447" "02223" "00166583" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131448" "02223" "00166584" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131449" "02223" "00166585" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131450" "02223" "00166586" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131451" "02223" "00166587" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131452" "02223" "00166588" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131453" "02223" "00166589" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131749" "02223" "00166885" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131750" "02223" "00166886" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131751" "02223" "00166887" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131752" "02223" "00166888" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131760" "04211" "00166896" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131762" "05426" "00166898" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131763" "05426" "00166899" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131766" "05426" "00166902" "02416" "Unknown" "" "Mantle cell lymphoma" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131768" "05426" "00166904" "02416" "Unknown" "" "subtle hearing loss, fibromyalgia" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131770" "05426" "00166906" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131920" "02223" "00167056" "00015" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131921" "02223" "00167057" "00015" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131922" "02223" "00167058" "00015" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131923" "02223" "00167059" "00015" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131924" "02223" "00167060" "00015" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131925" "02223" "00167061" "00015" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000131984" "02223" "00167120" "00015" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132591" "02223" "00167727" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132592" "02223" "00167728" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132593" "02223" "00167729" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132594" "02223" "00167730" "02426" "Unknown" "" "Choroideremia and autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132599" "02223" "00167735" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132600" "02223" "00167736" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132601" "02223" "00167737" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132602" "02223" "00167738" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132603" "02223" "00167739" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132604" "02223" "00167740" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132605" "02223" "00167741" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132606" "02223" "00167742" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132607" "02223" "00167743" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132608" "02223" "00167744" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132609" "02223" "00167745" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132610" "02223" "00167746" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132611" "02223" "00167747" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132612" "02223" "00167748" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132613" "02223" "00167749" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132614" "02223" "00167750" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132615" "02223" "00167751" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132616" "02223" "00167752" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132617" "02223" "00167753" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132618" "02223" "00167754" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132619" "02223" "00167755" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132620" "02223" "00167756" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132621" "02223" "00167757" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132622" "02223" "00167758" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132623" "02223" "00167759" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132624" "02223" "00167760" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132625" "02223" "00167761" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132635" "02223" "00167771" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132636" "02223" "00167772" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132637" "02223" "00167773" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132724" "02223" "00167860" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132725" "02223" "00167861" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132726" "02223" "00167862" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132727" "02223" "00167863" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132728" "02223" "00167864" "02426" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132729" "02223" "00167865" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132731" "02223" "00167867" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132732" "02223" "00167868" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132733" "02223" "00167869" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132734" "02223" "00167870" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132735" "02223" "00167871" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132736" "02223" "00167872" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132737" "02223" "00167873" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132738" "02223" "00167874" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132739" "02223" "00167875" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132740" "02223" "00167876" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132741" "02223" "00167877" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132742" "02223" "00167878" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132743" "02223" "00167879" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132744" "02223" "00167880" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132745" "02223" "00167881" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132746" "02223" "00167882" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132747" "02223" "00167883" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132748" "02223" "00167884" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132749" "02223" "00167885" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132750" "02223" "00167886" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132751" "02223" "00167887" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132752" "02223" "00167888" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132753" "02223" "00167889" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132754" "02223" "00167890" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132755" "02223" "00167891" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132756" "02223" "00167892" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132757" "02223" "00167893" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132758" "02223" "00167894" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132759" "02223" "00167895" "02429" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132760" "02223" "00167896" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132761" "02223" "00167897" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132762" "02223" "00167898" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132763" "02223" "00167899" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132764" "02223" "00167900" "00110" "Unknown" "" "clinical carrier signs" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132765" "02223" "00167901" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132766" "02223" "00167902" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132767" "02223" "00167903" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132768" "02223" "00167904" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132769" "02223" "00167905" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132770" "02223" "00167906" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132771" "02223" "00167907" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132772" "02223" "00167908" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132773" "02223" "00167909" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132774" "02223" "00167910" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132775" "02223" "00167911" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132776" "02223" "00167912" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132777" "02223" "00167913" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132778" "02223" "00167914" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132779" "02223" "00167915" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132780" "02223" "00167916" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132781" "02223" "00167917" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132782" "02223" "00167918" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132783" "02223" "00167919" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132784" "02223" "00167920" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132785" "02223" "00167921" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132786" "02223" "00167922" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132787" "02223" "00167923" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132788" "02223" "00167924" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132789" "02223" "00167925" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132790" "02223" "00167926" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132791" "02223" "00167927" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132792" "02223" "00167928" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132793" "02223" "00167929" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132794" "02223" "00167930" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132795" "02223" "00167931" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132796" "02223" "00167932" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132797" "02223" "00167933" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132798" "02223" "00167934" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132799" "02223" "00167935" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132800" "02223" "00167936" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132801" "02223" "00167937" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132802" "02223" "00167938" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132803" "02223" "00167939" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132804" "02223" "00167940" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132805" "02223" "00167941" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132806" "02223" "00167942" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132807" "02223" "00167943" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132808" "02223" "00167944" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132809" "02223" "00167945" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132810" "02223" "00167946" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132811" "02223" "00167947" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132812" "02223" "00167948" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132813" "02223" "00167949" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132814" "02223" "00167950" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132815" "02223" "00167951" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132816" "02223" "00167952" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132817" "02223" "00167953" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132818" "02223" "00167954" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132819" "02223" "00167955" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132820" "02223" "00167956" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132821" "02223" "00167957" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132822" "02223" "00167958" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132823" "02223" "00167959" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132824" "02223" "00167960" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132825" "02223" "00167961" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132826" "02223" "00167962" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132827" "02223" "00167963" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132828" "02223" "00167964" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132829" "02223" "00167965" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132830" "02223" "00167966" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132831" "02223" "00167967" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132832" "02223" "00167968" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132833" "02223" "00167969" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132834" "02223" "00167970" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132835" "02223" "00167971" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132836" "02223" "00167972" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132837" "02223" "00167973" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132838" "02223" "00167974" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132839" "02223" "00167975" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132840" "02223" "00167976" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132841" "02223" "00167977" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132842" "02223" "00167978" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132843" "02223" "00167979" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132844" "02223" "00167980" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132845" "02223" "00167981" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132846" "02223" "00167982" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132847" "02223" "00167983" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132848" "02223" "00167984" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132849" "02223" "00167985" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132850" "02223" "00167986" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132851" "02223" "00167987" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132852" "02223" "00167988" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132853" "02223" "00167989" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132854" "02223" "00167990" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132855" "02223" "00167991" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132856" "02223" "00167992" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132857" "02223" "00167993" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132858" "02223" "00167994" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132859" "02223" "00167995" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132860" "02223" "00167996" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132861" "02223" "00167997" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132862" "02223" "00167998" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132863" "02223" "00167999" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132864" "02223" "00168000" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132865" "02223" "00168001" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132866" "02223" "00168002" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132867" "02223" "00168003" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132868" "02223" "00168004" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132869" "02223" "00168005" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132870" "02223" "00168006" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132871" "02223" "00168007" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132872" "02223" "00168008" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132873" "02223" "00168009" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132874" "02223" "00168010" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132875" "02223" "00168011" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132876" "02223" "00168012" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132877" "02223" "00168013" "00110" "Unknown" "" "Symptomatic" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132878" "02223" "00168014" "00110" "Unknown" "" "Symptomatic" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132879" "02223" "00168015" "00110" "Unknown" "" "Symptomatic" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132880" "02223" "00168016" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132881" "02223" "00168017" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132882" "02223" "00168018" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132883" "02223" "00168019" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132884" "02223" "00168020" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132885" "02223" "00168021" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132886" "02223" "00168022" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000132887" "02223" "00168023" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000185194" "02223" "00245230" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185195" "02223" "00245231" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185196" "02223" "00245232" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185197" "02223" "00245233" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185198" "02223" "00245234" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185199" "02223" "00245235" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185200" "02223" "00245236" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185201" "02223" "00245237" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185202" "02223" "00245238" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185203" "02223" "00245239" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185204" "02223" "00245240" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185205" "02223" "00245241" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185206" "02223" "00245242" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185207" "02223" "00245243" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185208" "02223" "00245244" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185209" "02223" "00245245" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185210" "02223" "00245246" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185211" "02223" "00245247" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185212" "02223" "00245248" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185213" "02223" "00245249" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185214" "02223" "00245250" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185215" "02223" "00245251" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185216" "02223" "00245252" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185217" "02223" "00245253" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185218" "02223" "00245254" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185219" "02223" "00245255" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185220" "02223" "00245256" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185221" "02223" "00245257" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185222" "02223" "00245258" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185223" "02223" "00245259" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185224" "02223" "00245260" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185225" "02223" "00245261" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185226" "02223" "00245262" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185227" "02223" "00245263" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185228" "02223" "00245264" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185229" "02223" "00245265" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185230" "02223" "00245267" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185231" "02223" "00245268" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185232" "02223" "00245269" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185233" "02223" "00245270" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185234" "02223" "00245271" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185235" "02223" "00245272" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185236" "02223" "00245273" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia affected and carrier" "" "0000185237" "02223" "00245274" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185238" "02223" "00245275" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185239" "02223" "00245276" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185240" "02223" "00245277" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185241" "02223" "00245278" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185242" "02223" "00245279" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185243" "02223" "00245280" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185244" "02223" "00245281" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185245" "02223" "00245282" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185246" "02223" "00245283" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185247" "02223" "00245284" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185248" "02223" "00245285" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185249" "02223" "00245286" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185250" "02223" "00245287" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185251" "02223" "00245288" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185252" "02223" "00245289" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185253" "02223" "00245290" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185255" "02223" "00245303" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185256" "02223" "00245304" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185257" "02223" "00245305" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185258" "02223" "00245306" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185259" "02223" "00245307" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185260" "02223" "00245308" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185261" "02223" "00245309" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185262" "02223" "00245311" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185263" "01680" "00245312" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneal-Retinal Dystrophy" "" "0000185264" "00198" "00245313" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa & other retinal degenerations" "" "0000185265" "02223" "00245314" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185266" "00198" "00245315" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa & other retinal degenerations" "" "0000185267" "02223" "00245316" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185268" "02223" "00245317" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185269" "01680" "00245318" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneal-Retinal Dystrophy" "" "0000185270" "02223" "00245319" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185271" "02223" "00245320" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185272" "01680" "00245321" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneal-Retinal Dystrophy" "" "0000185273" "00198" "00245322" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease" "" "0000185274" "02223" "00245323" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185275" "02223" "00245324" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185276" "02223" "00245325" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185277" "02223" "00245326" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185278" "02223" "00245327" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185279" "02223" "00245328" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185280" "02223" "00245329" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185281" "02223" "00245330" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185282" "02223" "00245331" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185283" "02223" "00245332" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185284" "02223" "00245333" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185285" "02223" "00245334" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185286" "02223" "00245335" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia carrier" "" "0000185287" "02223" "00245336" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000185288" "02223" "00245337" "03351" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000234105" "04214" "00308677" "00004" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000234359" "04214" "00309039" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "chorioderemia" "" "0000234360" "04214" "00309040" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "chorioderemia" "" "0000234361" "04214" "00309041" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "chorioderemia" "" "0000234362" "04214" "00309042" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "chorioderemia" "" "0000234363" "04214" "00309043" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "chorioderemia" "" "0000234364" "04214" "00309044" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "chorioderemia" "" "0000234365" "04214" "00309045" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "chorioderemia" "" "0000234366" "04214" "00309046" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "chorioderemia" "" "0000234367" "04214" "00309047" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "chorioderemia" "" "0000234368" "04214" "00309048" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "chorioderemia" "" "0000234369" "04214" "00309049" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "chorioderemia" "" "0000234370" "04214" "00309050" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "chorioderemia" "" "0000242221" "00198" "00320175" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" "" "0000245874" "02223" "00327646" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245875" "02223" "00327647" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245876" "02223" "00327648" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245877" "02223" "00327649" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245878" "02223" "00327650" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245879" "02223" "00327651" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245880" "02223" "00327652" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245881" "02223" "00327653" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245882" "02223" "00327654" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245883" "02223" "00327655" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245884" "02223" "00327656" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245885" "02223" "00327657" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245886" "02223" "00327658" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245887" "02223" "00327659" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245888" "02223" "00327660" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245889" "02223" "00327661" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245890" "02223" "00327662" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245891" "02223" "00327663" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245892" "02223" "00327664" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245893" "02223" "00327665" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245894" "02223" "00327666" "00228" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245895" "02223" "00327667" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245896" "02223" "00327668" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245897" "02223" "00327669" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245898" "02223" "00327670" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245899" "02223" "00327671" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245900" "02223" "00327672" "00228" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245901" "02223" "00327673" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245902" "02223" "00327674" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245903" "02223" "00327675" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245904" "02223" "00327676" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245905" "02223" "00327677" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245906" "02223" "00327678" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245907" "02223" "00327679" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245908" "02223" "00327680" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245909" "02223" "00327681" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245910" "02223" "00327682" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245911" "02223" "00327683" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245912" "02223" "00327684" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245913" "02223" "00327685" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245914" "02223" "00327686" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245915" "02223" "00327687" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245916" "02223" "00327688" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245917" "02223" "00327689" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245918" "02223" "00327690" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245919" "02223" "00327691" "00228" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245920" "02223" "00327692" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245921" "02223" "00327693" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000245922" "02223" "00327694" "00228" "Familial, X-linked dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000246428" "04214" "00328201" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000246745" "04214" "00328520" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000249892" "05086" "00331700" "00000" "Familial, autosomal recessive" "46y" "" "7y" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000250365" "04214" "00332177" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "retinitis pigmentosa" "" "0000250366" "04214" "00332178" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "retinitis pigmentosa" "" "0000250367" "00198" "00332179" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000251580" "04214" "00333393" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "CHM" "" "0000251924" "04214" "00333740" "00000" "Familial, X-linked" "46y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000251925" "04214" "00333741" "00000" "Familial, X-linked" "30y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000251926" "04214" "00333742" "00000" "Familial, X-linked" "58y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000251927" "04214" "00333743" "00000" "Familial, X-linked" "44y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000251928" "04214" "00333744" "00000" "Familial, X-linked" "23y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000251929" "04214" "00333745" "00000" "Familial, X-linked" "16y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000251930" "04214" "00333746" "00000" "Familial, X-linked" "18y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000251931" "04214" "00333747" "00000" "Familial, X-linked" "65y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000251932" "04214" "00333748" "00000" "Familial, X-linked" "14y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000251933" "04214" "00333749" "00000" "Familial, X-linked" "45y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000251934" "04214" "00333750" "00000" "Familial, X-linked" "35y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000251935" "04214" "00333751" "00000" "Familial, X-linked" "16y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000251936" "04214" "00333752" "00000" "Familial, X-linked" "30y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000251937" "04214" "00333753" "00000" "Familial, X-linked" "72y" "clinical category IIIA1" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000253034" "04214" "00335319" "02485" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253035" "04214" "00335320" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253037" "04214" "00335322" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253881" "04214" "00335966" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000253936" "04214" "00358721" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000253937" "04214" "00358722" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000253938" "04214" "00358723" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000253939" "04214" "00358724" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000253940" "04214" "00358725" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000254008" "04214" "00358793" "00000" "Familial, X-linked" "48y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254253" "04214" "00358955" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254417" "04214" "00359120" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254447" "04214" "00359150" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000258849" "04214" "00363499" "04059" "Familial, X-linked recessive" "14y" "Retinitis pigmentosa. Abolished ERG" "" "" "" "" "" "" "" "" "" "" "" "" "0000258926" "04214" "00363576" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000268634" "04214" "00373358" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269074" "04214" "00373865" "00000" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269085" "04214" "00373876" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "chorioderemia" "" "0000270569" "04214" "00375355" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272384" "04214" "00377226" "00000" "Familial, X-linked recessive" "24y" "see paper" "5y" "" "5y" "" "" "" "" "" "" "choroideremia (CHM)" "retinal disease" "" "0000272385" "04214" "00377227" "00000" "Familial, X-linked recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "retinal disease" "" "0000272386" "04214" "00377228" "00000" "Familial, X-linked recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "retinal disease" "" "0000272647" "04214" "00377497" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "CHM" "Choroideremia" "" "0000272648" "04214" "00377498" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "CHM" "Choroideremia" "" "0000273158" "02223" "00378011" "03508" "Familial, X-linked dominant" "" "HP:0032037, HP:0000662, HP:0001133,\tHP:0001139" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000273514" "02223" "00379670" "03508" "Familial, X-linked dominant" "" "HP:0032037,\tHP:0000662,\tHP:0000613,\tHP:0001123,\tHP:0001417,\tHP:0001139" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000273598" "02223" "00379744" "03508" "Familial, X-linked dominant" "" "HP:0032037,\tHP:0000662,\tHP:0001123,\tHP:0001417,\tHP:0001139" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000273673" "04214" "00379819" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000274038" "04214" "00380183" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274039" "04214" "00380184" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000275635" "04214" "00381793" "00000" "Familial, X-linked" "31y" "" "28y" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000276100" "04214" "00382251" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276101" "04214" "00382252" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277308" "04214" "00383523" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Choroideremia" "" "0000278025" "04214" "00384240" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000278230" "04214" "00384445" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000278260" "04214" "00384475" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000278287" "04214" "00384502" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000279963" "04214" "00386160" "00000" "Familial, autosomal dominant" "67y" "" "" "" "56y" "" "" "" "" "" "" "late onset��retinal deg" "" "" "0000280507" "04214" "00386707" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280562" "04214" "00386762" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000282087" "04214" "00388547" "00000" "Isolated (sporadic)" "" "Non‐syndrom" "" "" "28y" "" "" "" "" "" "" "Choroideremia" "Retinitis pigmentosa" "" "0000282099" "04214" "00388559" "00000" "Isolated (sporadic)" "" "Non‐syndrom" "" "" "15y" "" "" "" "" "" "" "Choroideremia" "Retinitis pigmentosa" "" "0000282281" "04214" "00388740" "00000" "Familial, X-linked" "34y" "age at genetic diagnosis mentioned" "" "" "27y" "" "" "" "" "" "" "choroideremia" "" "" "0000282282" "04214" "00388741" "00000" "Familial, X-linked" "56y" "age at genetic diagnosis mentioned" "" "" "50y" "" "" "" "" "" "" "choroideremia" "" "" "0000282283" "04214" "00388742" "00000" "Familial, X-linked" "58y" "age at genetic diagnosis mentioned" "" "" "51y" "" "" "" "" "" "" "choroideremia" "" "" "0000282284" "04214" "00388743" "00000" "Familial, X-linked" "41y" "age at genetic diagnosis mentioned" "" "" "35y" "" "" "" "" "" "" "choroideremia" "" "" "0000282290" "04214" "00388749" "00000" "Familial, X-linked" "57y" "age at genetic diagnosis mentioned" "" "" "55y" "" "" "" "" "" "" "choroideremia" "" "" "0000282298" "04214" "00388757" "00000" "Familial, X-linked" "47y" "age at genetic diagnosis mentioned" "" "" "43y" "" "" "" "" "" "" "choroideremia" "" "" "0000282346" "04214" "00388805" "00000" "Familial, X-linked" "37y" "age at genetic diagnosis mentioned" "" "" "36y" "" "" "" "" "" "" "choroideremia" "" "" "0000282347" "04214" "00388806" "00000" "Familial, X-linked" "57y" "age at genetic diagnosis mentioned" "" "" "57y" "" "" "" "" "" "" "choroideremia" "" "" "0000282371" "04214" "00388830" "00000" "Familial, X-linked" "63y" "age at genetic diagnosis mentioned" "" "" "58y" "" "" "" "" "" "" "choroideremia" "" "" "0000282378" "04214" "00388837" "00000" "Familial, X-linked" "34y" "age at genetic diagnosis mentioned" "" "" "31y" "" "" "" "" "" "" "choroideremia" "" "" "0000282405" "04214" "00388864" "00000" "Familial, X-linked" "30y" "age at genetic diagnosis mentioned" "" "" "21y" "" "" "" "" "" "" "choroideremia" "" "" "0000282409" "04214" "00388868" "00000" "Familial, X-linked dominant" "103y" "age at genetic diagnosis mentioned" "" "" "101y" "" "" "" "" "" "" "choroideremia" "" "" "0000282410" "04214" "00388869" "00000" "Familial, X-linked dominant" "69y" "age at genetic diagnosis mentioned" "" "" "66y" "" "" "" "" "" "" "choroideremia" "" "" "0000282411" "04214" "00388870" "00000" "Familial, X-linked dominant" "70y" "age at genetic diagnosis mentioned" "" "" "67y" "" "" "" "" "" "" "choroideremia" "" "" "0000282431" "04214" "00388890" "00000" "Familial, X-linked" "57y" "age at genetic diagnosis mentioned" "" "" "55y" "" "" "" "" "" "" "choroideremia" "" "" "0000282443" "04214" "00388902" "00000" "Familial, X-linked" "61y" "age at genetic diagnosis mentioned" "" "" "55y" "" "" "" "" "" "" "choroideremia" "" "" "0000282449" "04214" "00388908" "00000" "Familial, X-linked" "68y" "age at genetic diagnosis mentioned" "" "" "60y" "" "" "" "" "" "" "choroideremia" "" "" "0000282467" "04214" "00388926" "00000" "Familial, X-linked" "29y" "age at genetic diagnosis mentioned" "" "" "24y" "" "" "" "" "" "" "choroideremia" "" "" "0000282470" "04214" "00388929" "00000" "Familial, X-linked" "18y" "age at genetic diagnosis mentioned" "" "" "13y" "" "" "" "" "" "" "choroideremia" "" "" "0000282471" "04214" "00388930" "00000" "Familial, X-linked" "21y" "age at genetic diagnosis mentioned" "" "" "16y" "" "" "" "" "" "" "choroideremia" "" "" "0000282476" "04214" "00388935" "00000" "Familial, X-linked" "54y" "age at genetic diagnosis mentioned" "" "" "49y" "" "" "" "" "" "" "choroideremia" "" "" "0000282479" "04214" "00388938" "00000" "Familial, X-linked" "51y" "age at genetic diagnosis mentioned" "" "" "46y" "" "" "" "" "" "" "choroideremia" "" "" "0000282480" "04214" "00388939" "00000" "Familial, X-linked" "76y" "age at genetic diagnosis mentioned" "" "" "72y" "" "" "" "" "" "" "choroideremia" "" "" "0000282487" "04214" "00388946" "00000" "Familial, X-linked" "44y" "age at genetic diagnosis mentioned" "" "" "39y" "" "" "" "" "" "" "choroideremia" "" "" "0000282490" "04214" "00388949" "00000" "Familial, X-linked" "53y" "age at genetic diagnosis mentioned" "" "" "50y" "" "" "" "" "" "" "choroideremia" "" "" "0000282499" "04214" "00388958" "00000" "Familial, X-linked" "62y" "age at genetic diagnosis mentioned" "" "" "57y" "" "" "" "" "" "" "choroideremia" "" "" "0000282502" "04214" "00388961" "00000" "Familial, X-linked" "54y" "age at genetic diagnosis mentioned" "" "" "50y" "" "" "" "" "" "" "choroideremia" "" "" "0000282507" "04214" "00388966" "00000" "Familial, X-linked" "21y" "age at genetic diagnosis mentioned" "" "" "19y" "" "" "" "" "" "" "choroideremia" "" "" "0000282508" "04214" "00388967" "00000" "Familial, X-linked" "26y" "age at genetic diagnosis mentioned" "" "" "24y" "" "" "" "" "" "" "choroideremia" "" "" "0000282511" "04214" "00388970" "00000" "Familial, X-linked" "62y" "age at genetic diagnosis mentioned" "" "" "58y" "" "" "" "" "" "" "choroideremia" "" "" "0000282515" "04214" "00388974" "00000" "Familial, X-linked" "45y" "age at genetic diagnosis mentioned" "" "" "41y" "" "" "" "" "" "" "choroideremia" "" "" "0000282518" "04214" "00388977" "00000" "Familial, X-linked" "28y" "age at genetic diagnosis mentioned" "" "" "24y" "" "" "" "" "" "" "choroideremia" "" "" "0000282519" "04214" "00388978" "00000" "Familial, X-linked" "50y" "age at genetic diagnosis mentioned" "" "" "46y" "" "" "" "" "" "" "choroideremia" "" "" "0000282520" "04214" "00388979" "00000" "Familial, X-linked" "59y" "age at genetic diagnosis mentioned" "" "" "55y" "" "" "" "" "" "" "choroideremia" "" "" "0000282521" "04214" "00388980" "00000" "Familial, X-linked" "61y" "age at genetic diagnosis mentioned" "" "" "58y" "" "" "" "" "" "" "choroideremia" "" "" "0000282527" "04214" "00388986" "00000" "Familial, X-linked" "65y" "age at genetic diagnosis mentioned" "" "" "62y" "" "" "" "" "" "" "choroideremia" "" "" "0000282530" "04214" "00388989" "00000" "Familial, X-linked" "41y" "age at genetic diagnosis mentioned" "" "" "38y" "" "" "" "" "" "" "choroideremia" "" "" "0000282540" "04214" "00388999" "00000" "Familial, X-linked" "40y" "age at genetic diagnosis mentioned" "" "" "37y" "" "" "" "" "" "" "choroideremia" "" "" "0000282542" "04214" "00389001" "00000" "Familial, X-linked" "31y" "age at genetic diagnosis mentioned" "" "" "28y" "" "" "" "" "" "" "choroideremia" "" "" "0000282543" "04214" "00389002" "00000" "Familial, X-linked" "53y" "age at genetic diagnosis mentioned" "" "" "49y" "" "" "" "" "" "" "choroideremia" "" "" "0000282546" "04214" "00389005" "00000" "Familial, X-linked dominant" "57y" "age at genetic diagnosis mentioned" "" "" "54y" "" "" "" "" "" "" "choroideremia" "" "" "0000282551" "04214" "00389010" "00000" "Familial, X-linked" "51y" "age at genetic diagnosis mentioned" "" "" "48y" "" "" "" "" "" "" "choroideremia" "" "" "0000282555" "04214" "00389014" "00000" "Familial, X-linked" "50y" "age at genetic diagnosis mentioned" "" "" "48y" "" "" "" "" "" "" "choroideremia" "" "" "0000282576" "04214" "00389035" "00000" "Familial, X-linked dominant" "44y" "age at genetic diagnosis mentioned" "" "" "43y" "" "" "" "" "" "" "choroideremia" "" "" "0000282577" "04214" "00389036" "00000" "Familial, X-linked dominant" "63y" "age at genetic diagnosis mentioned" "" "" "61y" "" "" "" "" "" "" "choroideremia" "" "" "0000282578" "04214" "00389037" "00000" "Familial, X-linked dominant" "66y" "age at genetic diagnosis mentioned" "" "" "64y" "" "" "" "" "" "" "choroideremia" "" "" "0000282579" "04214" "00389038" "00000" "Familial, X-linked dominant" "36y" "age at genetic diagnosis mentioned" "" "" "35y" "" "" "" "" "" "" "choroideremia" "" "" "0000282583" "04214" "00389042" "00000" "Familial, X-linked" "30y" "age at genetic diagnosis mentioned" "" "" "28y" "" "" "" "" "" "" "choroideremia" "" "" "0000282584" "04214" "00389043" "00000" "Familial, X-linked" "34y" "age at genetic diagnosis mentioned" "" "" "32y" "" "" "" "" "" "" "choroideremia" "" "" "0000282585" "04214" "00389044" "00000" "Familial, X-linked" "61y" "age at genetic diagnosis mentioned" "" "" "60y" "" "" "" "" "" "" "choroideremia" "" "" "0000284596" "04214" "00391154" "00000" "Unknown" "46y" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284886" "04214" "00391550" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000284887" "04214" "00391551" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000284888" "04214" "00391552" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000285844" "04214" "00392597" "00000" "Familial, X-linked" "" "initial diagnosis of X-linked retinitis pigmentosa redifined to choroideremia" "" "" "" "" "" "" "" "" "" "choroideremia" "retinitis pigmentosa" "" "0000285875" "04214" "00392628" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "choroideremia" "" "0000285921" "04214" "00392674" "00000" "Familial, X-linked" "" "initial diagnosis of autosomal recessive retinitis pigmentosa redifined to choroideremia" "" "" "" "" "" "" "" "" "" "choroideremia" "retinitis pigmentosa" "" "0000286665" "04214" "00393459" "00000" "Familial, X-linked" "48y" "" "" "" "" "" "" "" "" "" "" "" "Choroideremia" "" "0000286666" "04214" "00393460" "00000" "Familial, X-linked" "42y" "" "" "" "" "" "" "" "" "" "" "" "Choroideremia" "" "0000286670" "04214" "00393464" "00000" "Familial, X-linked" "32y" "" "" "" "" "" "" "" "" "" "" "" "Choroideremia" "" "0000286671" "04214" "00393465" "00000" "Familial, X-linked" "38y" "" "" "" "" "" "" "" "" "" "" "" "Choroideremia" "" "0000286724" "04214" "00393518" "00000" "Isolated (sporadic)" "59y" "" "" "" "" "" "" "" "" "" "" "" "Choroideremia" "" "0000286745" "04214" "00393539" "00000" "Familial, X-linked" "34y" "" "" "" "" "" "" "" "" "" "" "" "Choroideremia" "" "0000286770" "04214" "00393564" "00000" "Familial, X-linked" "30y" "" "" "" "" "" "" "" "" "" "" "" "Choroideremia" "" "0000286791" "04214" "00393585" "00000" "Familial, X-linked" "63y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286845" "04214" "00393639" "00000" "Isolated (sporadic)" "35y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286850" "04214" "00393644" "00000" "Familial, X-linked" "32y" "" "" "" "" "" "" "" "" "" "" "" "Choroideremia" "" "0000286886" "04214" "00393680" "00000" "Familial, X-linked" "3y" "" "" "" "" "" "" "" "" "" "" "" "Choroideremia" "" "0000287028" "04214" "00393822" "00000" "Familial, X-linked" "44y" "" "" "" "" "" "" "" "" "" "" "" "Choroideremia" "" "0000287565" "04214" "00394361" "00000" "Familial, X-linked dominant" "" "Early-onset RP, diagnosed 8 y, electroretinogram consistent with RP" "" "" "8y" "" "" "" "" "" "" "Choroideremia" "" "" "0000287566" "04214" "00394362" "00000" "Familial, X-linked dominant" "" "Early-onset RP, visual impairment 8 y, whole fundus pigmented, electroretinogram consistent with RP" "8y" "" "" "" "" "" "" "" "" "Choroideremia" "" "" "0000288002" "04214" "00394802" "00000" "Familial, X-linked" "" "inherited retinal disease other than retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "choroideremia" "" "" "0000288003" "04214" "00394803" "00000" "Familial, X-linked" "" "inherited retinal disease other than retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "choroideremia" "" "" "0000288005" "04214" "00394805" "00000" "Familial, X-linked" "" "inherited retinal disease other than retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "inherited retinal disease" "" "" "0000288006" "04214" "00394806" "00000" "Familial, X-linked" "" "inherited retinal disease other than retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "inherited retinal disease" "" "" "0000288009" "04214" "00394809" "00000" "Familial, X-linked" "" "inherited retinal disease other than retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "choroideremia" "" "" "0000289022" "04214" "00395860" "00000" "Unknown" "24y1m" "" "8y" "" "" "" "" "" "" "" "" "choroideremia" "" "" "0000289109" "04214" "00395947" "00000" "Unknown" "45y11m" "" "1y" "" "" "" "" "" "" "" "" "choroideremia" "" "" "0000289623" "04214" "00396462" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000291476" "04214" "00398355" "00000" "Familial, X-linked" "69y" "night blindness; Brunescent cataract" "20y-29y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291477" "04214" "00398356" "00000" "Familial, X-linked" "44y" "night blindness" "20y-29y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291478" "04214" "00398357" "00000" "Familial, X-linked" "46y" "night blindness; Mild Cortical opacity" "10y-19y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291479" "04214" "00398358" "00000" "Familial, X-linked" "44y" "night blindness; Peripheral cortical opacity" "10y-19y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291480" "04214" "00398359" "00000" "Familial, X-linked" "38y" "night blindness; Mild cortical opacity" "10y-19y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291481" "04214" "00398360" "00000" "Familial, X-linked" "32y" "night blindness" "20y-29y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291482" "04214" "00398361" "00000" "Familial, X-linked" "52y" "night blindness" "10y-19y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291483" "04214" "00398362" "00000" "Familial, X-linked" "53y" "night blindness; Mild cortical opacity" "20y-29y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291484" "04214" "00398363" "00000" "Familial, X-linked" "14y" "night blindness" "10y-19y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291485" "04214" "00398364" "00000" "Familial, X-linked" "37y" "difficulties in mobility, visual acuity was 20/20 in both eyes, typical chorioretinal atrophy, with absence of autofluorescence, in the retinal periphery and spots of pigment deposits" "30y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291486" "04214" "00398365" "00000" "Familial, X-linked" "23y" "night blindness, peripheral chorioretinal atrophy and preservation of a rounded central islet of retina" "10y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291487" "04214" "00398366" "00000" "Familial, X-linked" "" "moving difficulties. At 48 years, he could read only large letters, his visual field showed less than 5 degrees of central vision with a large inferotemporal remnant of vision between 70 and 90 degrees" "25y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291488" "04214" "00398367" "00000" "Familial, X-linked" "29y" "mildly reduced visual acuity (0.8–0.9) and disorders of night vision, irregular loss of visual field and diffuse loss of RPE and choriocapillaris" "27y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291489" "04214" "00398368" "00000" "Isolated (sporadic)" "37y" "night blindness, loss of peripheral and paracentral vision, complete loss of RPE" "10y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291490" "04214" "00398369" "00000" "Familial, X-linked" "68y" "night blindness, reduced visual acuity, hyperopic astigmatism and tunnel vision, diffuse loss of RPE and choriocapillaris, reduced photopic and scotopic responses, minor cystic changes in the macula" "58y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291491" "04214" "00398370" "00000" "Familial, X-linked" "37y" "night blindness, visual field reduced to 10-25,diffuse loss of RPE and choriocapillaris" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291492" "04214" "00398371" "00000" "Familial, X-linked" "37y" "visual field reduced to 10–25,diffuse loss of RPE and choriocapillaris" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291493" "04214" "00398372" "00000" "Isolated (sporadic)" "52y" "night blindness, photophobia and myopic astigmatism, loss of RPE and choroid out of fovea and bone-spicules pigment deposits in the periphery" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291494" "04214" "00398373" "00000" "Familial, X-linked" "10y" "myopia on both eyes, significant atrophy of the choroid, foveal thickening, parafoveolar, diffuse RPE atrophy and photoreceptor loss, absence of choriocapillaris, with prominent large choroid vasculature, decreased vascularity in the chorio capillaris layer and show off larger choroid vessels" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291495" "04214" "00398374" "00000" "Familial, X-linked" "41y" "small peripheral zones of atrophy and hyper pigmentation, without any symptoms or major visible changes on OCT or OCTA" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291496" "04214" "00398375" "00000" "Familial, X-linked" "21y" "nyctalopia for the past 4-5 years, pigmentary changes and retinal atrophy in both eyes, outer retinal loss, goldmann visual fields were constricted, retinal sensitivity losses, and extinguished cone responses." "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291497" "04214" "00398376" "00000" "Familial, X-linked" "13y" "normal poste- rior pole; wide- spread pigmen- tary changes predominantly in mid-periphery" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291498" "04214" "00398377" "00000" "Familial, X-linked" "17y" "preserved macular region; widespread chorioretinal atrophy; large peripheral pigmentary rearrangements" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291499" "04214" "00398378" "00000" "Familial, X-linked" "18y" "preserved macula; wide- spread pigmen- tary changes predominantly in mid-periphery involved the vascular arcades near the optic disc" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291500" "04214" "00398379" "00000" "Familial, X-linked" "17y" "hemeralopia, preserved macular region; atrophic RPE and choriocapil- laris areas predominantly at the mid-periph- ery; pigmentary changes in periphery" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291501" "04214" "00398380" "00000" "Familial, X-linked" "18y" "preserved macular region; atrophic RPE and choriocapil- laris areas predominantly at the mid-periph- ery; pigmentary changes in periphery; peripapillary atrophy" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291502" "04214" "00398381" "00000" "Familial, X-linked" "26y" "hemeralopia, preserved macular region; widespread chorioretinal atrophy; large peripheral pigmentary rearrangements" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291503" "04214" "00398382" "00000" "Familial, X-linked recessive" "51y" "" "20y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291504" "04214" "00398383" "00000" "Familial, X-linked recessive" "48y" "" "12y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291505" "04214" "00398384" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291506" "04214" "00398385" "00000" "Familial, X-linked recessive" "46y" "" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291507" "04214" "00398386" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291508" "04214" "00398387" "00000" "Familial, X-linked recessive" "34y" "Pale peripheral fundus; Subretinal pigment; extensive RPE atrophy with macular sparing." "23y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291509" "04214" "00398388" "00000" "Familial, X-linked recessive" "" "Posterior pattern of pigment mottling resembling a “fishnet with knots”" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291510" "04214" "00398389" "00000" "Familial, X-linked recessive" "17y" "" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291511" "04214" "00398390" "00000" "Familial, X-linked recessive" "58y" "Nyctalopia, diffuse retinal atrophy and depletion of choriocapillaris with scleral exposure and visible choroidal vessels" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291512" "04214" "00398391" "00000" "Familial, X-linked recessive" "" "Nyctalopia" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291513" "04214" "00398392" "00000" "Familial, X-linked recessive" "" "Nyctalopia, vision decline, vision field defect" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291514" "04214" "00398393" "00000" "Familial, X-linked recessive" "" "Nyctalopia, vision decline, vision field defect" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291515" "04214" "00398394" "00000" "Familial, X-linked recessive" "65y" "" "67y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291516" "04214" "00398395" "00000" "Familial, X-linked recessive" "<1y" "" "61y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291517" "04214" "00398396" "00000" "Familial, X-linked recessive" "18y" "" "28y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291518" "04214" "00398397" "00000" "Familial, X-linked recessive" "27y" "" "56y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291519" "04214" "00398398" "00000" "Familial, X-linked recessive" "5y" "" "26y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291520" "04214" "00398399" "00000" "Familial, X-linked recessive" "<1y" "" "34y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291521" "04214" "00398400" "00000" "Familial, X-linked recessive" "15y" "" "30y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291522" "04214" "00398401" "00000" "Isolated (sporadic)" "11y" "severe reduction in photoreceptor function, extensive loss of ellipsoid zone and outer nuclear layer, central area of hyperfluorescence in the macula, along with a scalloped region of atrophy" "5y" "" "" "night blindness and loss of side vision" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291523" "04214" "00398402" "00000" "Familial, X-linked recessive" "50y" "nyctalopia and poor peripheral vision since childhood; he was affected by type 2 diabetes and coronary heart disease that was treated with angioplasty." "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291524" "04214" "00398403" "00000" "Familial, X-linked recessive" "35y" "night blindness" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291525" "04214" "00398404" "00000" "Familial, X-linked recessive" "42y" "night blindness, VFD" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291526" "04214" "00398405" "00000" "Familial, X-linked recessive" "8y" "night blindness" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291527" "04214" "00398406" "00000" "Familial, X-linked recessive" "10y" "night blindness, photo- phobia" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291528" "04214" "00398407" "00000" "Familial, X-linked recessive" "21y" "Photophobia" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291529" "04214" "00398408" "00000" "Familial, X-linked recessive" "45y" "night blindness" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291530" "04214" "00398409" "00000" "Familial, X-linked recessive" "49y" "night blindness" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291531" "04214" "00398410" "00000" "Familial, X-linked recessive" "43y" "Photophobia" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291532" "04214" "00398411" "00000" "Familial, X-linked recessive" "26y" "night blindness" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291533" "04214" "00398412" "00000" "Familial, X-linked recessive" "45y" "night blindness, decreased visual acuity" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291534" "04214" "00398413" "00000" "Familial, X-linked recessive" "5y" "night blindness" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291535" "04214" "00398414" "00000" "Familial, X-linked recessive" "26y" "distorted vision, macular hole in LE" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291536" "04214" "00398415" "00000" "Familial, X-linked recessive" "9y" "decreased visual acuity, choroidal neovasscularizetion in BE" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291537" "04214" "00398416" "00000" "Familial, X-linked recessive" "9y" "choroidal neovasscularizetion in RE" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291538" "04214" "00398417" "00000" "Familial, X-linked recessive" "76y" "night blindness, decreased visual acuity" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291539" "04214" "00398418" "00000" "Familial, X-linked recessive" "13y" "decreased visual acuity, choroidal neovasscularizetion in LE" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291540" "04214" "00398419" "00000" "Familial, X-linked recessive" "47y" "night blindness" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291541" "04214" "00398420" "00000" "Familial, X-linked recessive" "42y" "night blindness" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291542" "04214" "00398421" "00000" "Familial, X-linked recessive" "16y" "decreased visual acuity, choroidal neovasscularizetion in RE" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291543" "04214" "00398422" "00000" "Familial, X-linked recessive" "39y" "night blindness, photo- phobia" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291544" "04214" "00398423" "00000" "Familial, X-linked recessive" "46y" "night blindness, Decreased visual acuity" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291545" "04214" "00398424" "00000" "Familial, X-linked recessive" "17y" "" "12y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291546" "04214" "00398425" "00000" "Familial, X-linked recessive" "30y" "" "21y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291547" "04214" "00398426" "00000" "Familial, X-linked recessive" "34y" "" "19y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291548" "04214" "00398427" "00000" "Familial, X-linked recessive" "17y" "peripheral pigmentary retinopathy" "17y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291549" "04214" "00398428" "00000" "Familial, X-linked recessive" "19y" "" "18y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291550" "04214" "00398429" "00000" "Familial, X-linked recessive" "11y" "" "10y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291551" "04214" "00398430" "00000" "Familial, X-linked recessive" "45y" "" "30y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291552" "04214" "00398431" "00000" "Familial, X-linked recessive" "54y" "" "29y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291553" "04214" "00398432" "00000" "Familial, X-linked recessive" "34y" "" "33y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291554" "04214" "00398433" "00000" "Familial, X-linked recessive" "17y" "" "10y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291555" "04214" "00398434" "00000" "Familial, X-linked recessive" "10y" "" "10y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291556" "04214" "00398435" "00000" "Familial, X-linked recessive" "44y" "" "10y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291557" "04214" "00398436" "00000" "Familial, X-linked recessive" "53y" "nyctalopía" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291558" "04214" "00398437" "00000" "Familial, X-linked recessive" "37y" "difficult vision at night" "19y" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291559" "04214" "00398438" "00000" "Familial, X-linked recessive" "21y" "nyctalopía" "" "" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "0000291562" "04214" "00398441" "00000" "Familial, X-linked recessive" "55y" "85y: retinae resemble lacework (CN); vision problems increasing; sees ?ashes of light; blind in one eye; decreased PV in the other" "90y" "" "" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "" "" "0000291563" "04214" "00398442" "00000" "Familial, X-linked recessive" "16y" "17y: legally blind, 24y: no progression of symptoms, 32y: CV OK; PV getting noticeably worse" "33y" "" "17y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "retinitis pigmentosa (RP); myopic; has never driven" "" "0000291564" "04214" "00398443" "00000" "Familial, X-linked recessive" "16y" "20y: stopped driving at night, 30y: stopped driving completely, 34y: CV OK; decreased PV; photophobia worse; not legally blind" "35y" "" "20y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "AR retinitis pigmentosa (arRP)" "" "0000291565" "04214" "00398444" "00000" "Familial, X-linked recessive" "" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "" "" "" "0000291566" "04214" "00398445" "00000" "Familial, X-linked recessive" "4y" "6y: pigmentation of fundus (CN), 8y: patchy atrophy, mild attenuation of retinal arteries, slightly swollen optic nerve heads; no visual symptoms except depth perception issues; microperimetry showed slight reduction in retinal sensitivity in central 6°(CN)" "12y" "" "7y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "" "" "0000291567" "04214" "00398446" "00000" "Familial, X-linked recessive" "13y" "20y: slow progression; NB worsening in past year" "23y" "" "20y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "" "" "0000291568" "04214" "00398447" "00000" "Familial, X-linked recessive" "" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "" "" "" "0000291569" "04214" "00398448" "00000" "Familial, X-linked recessive" "51y" "reduced peripheral vision; 51y: reduced PV, 56y: NB; see ?ashes of light; faster progression in past few years; stopped driving, 59y: CV and photophobia very bad; no PV" "59y" "" "55y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "" "" "0000291570" "04214" "00398449" "00000" "Familial, X-linked recessive" "" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "" "" "" "0000291571" "04214" "00398450" "00000" "Familial, X-linked recessive" "23y" "30y: signi?cant deterioration of vision, 44y: stopped driving, 49y: LE LP; RE tunnel vision; legally blind, 59y: struggles to see dinner on his plate" "60y" "" "23y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "retinitis pigmentosa (RP)" "" "0000291572" "04214" "00398451" "00000" "Familial, X-linked recessive" "28y" "reduced peripheral vision; 35y: legally blind, 47y: rapid deterioration in PV, 49y: started using a cane" "53y" "" "34y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "retinitis pigmentosa (RP)" "" "0000291573" "04214" "00398452" "00000" "Familial, X-linked recessive" "" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "" "" "" "0000291574" "04214" "00398453" "00000" "Isolated (sporadic)" "58y" "photophobia; 64y: slow progression; PV not too bad; stopped driving in early morning (glare) and at night; depth perception problems; dry eyes" "72y" "" "" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "" "" "0000291575" "04214" "00398454" "00000" "Isolated (sporadic)" "16y" "?12y: no vision problems; slow progression thereafter, 18y: VA 6/6 BE; large areas of atrophy in peripheral and perimacular region and defects in RPE suggestive of choroideremia; ERG consistent with choroideremia (CN); NB in last 2-3 years" "22y" "" "18y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "" "" "0000291576" "04214" "00398455" "00000" "Isolated (sporadic)" "10y" "astigmatism; ERG: residual cone function, but extinguished rod response; photophobia; 28y: VA 6/6 BE; 15o fields; marked peripheral retinal degeneration, just macula spared in both eyes (CN), 32y: constriction of visual ?elds; VA 6/6 BE (CN), 34y: VA RE 6/7.5 + ; LE 6/6- (CN)., 41y: VA RE 6/12; LE 6/6 (CN); no longer driving; still has functional vision; not deemed legally blind" "44y" "" "41y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "" "" "0000291577" "04214" "00398456" "00000" "Familial, X-linked recessive" "" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "" "" "" "0000291578" "04214" "00398457" "00000" "Familial, X-linked recessive" "" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "" "" "" "0000291579" "04214" "00398458" "00000" "Familial, X-linked recessive" "" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "" "" "" "0000291580" "04214" "00398459" "00000" "Familial, X-linked recessive" "" "Asymptomatic male" "14y" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "" "0000291581" "04214" "00398460" "00000" "Familial, X-linked recessive" "3y" "Color blind; 16y: photophobic, 26y: very slow progression; CV ?ne; gradual loss in PV; gradual increase in NB; drives in daylight; dark adaptation problems sees ?ashes of light & ?oating spots; light to" "27y" "" "6y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "" "" "0000291582" "04214" "00398461" "00000" "Familial, X-linked recessive" "6y" "Myopic; reduced peripheral vision; 25y: very slow progression; CV a little blurred; gradual loss of PV; still day/night driving; sees adaptation problems ?ashes of light & ?oating spots; light to dark" "25y" "" "17y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "" "" "0000291583" "04214" "00398462" "00000" "Familial, X-linked recessive" "" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "" "" "" "0000291584" "04214" "00398463" "00000" "Familial, X-linked recessive" "" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "" "" "" "0000291585" "04214" "00398464" "00000" "Familial, X-linked recessive" "4y" "5y: no progression as yet; VA 6/9 BE; PV OK;peripheral pigmentary changes; peripheral retinal mottling consistent with choroideremia (CN)" "8y" "" "4y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "" "" "0000291586" "04214" "00398465" "00000" "Familial, X-linked recessive" "" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "" "" "" "0000291587" "04214" "00398466" "00000" "Isolated (sporadic)" "8y" "reduced peripheral vision; 21y: CV OK; stopped driving; LE color perception problems, 25y: decreased CV and PV. NB worsened in past few years; LE worse than RE; can still read easily, 29y: photophobia a recent development" "29y" "" "13y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "" "" "0000291588" "04214" "00398467" "00000" "Familial, X-linked recessive" "21y" "reduced peripheral vision; 52y: very gradual progression; drives in daylight" "53y" "" "21y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "retinitis pigmentosa (RP)" "" "0000291589" "04214" "00398468" "00000" "Familial, X-linked recessive" "" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "" "" "" "0000291590" "04214" "00398469" "00000" "Familial, X-linked recessive" "28y" "reduced peripheral vision; photophobia; 59y: VA 3/60 (RE); 6/18 (LE); NB; PV < 3°; photophobic; contrast sensitivity and color test grossly abnormal; ?at or grossly reduced ERGs; slow progression (CN)" "61y" "" "58y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "rod-cone dystrophy (RCD)" "" "0000291591" "04214" "00398470" "00000" "Familial, X-linked recessive" "" "Asymptomatic male" "26y" "" "" "" "" "" "" "" "" "Choroidermia (CHM)" "" "" "0000291592" "04214" "00398471" "00000" "Familial, X-linked recessive" "5y" "reduced peripheral vision; 10y: VA RE 6/24; LE 6/30; (CN); no full ?eld ERG responses; PV < 10° (CN)" "17y" "" "6y" "night blindness" "" "" "" "" "" "Choroidermia (CHM)" "X-linked retinitis pigmentosa (xlRP)" "" "0000291593" "04214" "00398472" "00000" "Familial, X-linked recessive" "" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "" "" "" "0000299498" "04214" "00407144" "00000" "Familial, X-linked" ">41y" "Latest visual acuity: OD 0.18/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299499" "04214" "00407145" "00000" "Familial, X-linked" ">50y" "Latest visual acuity: OD 2.7/OS 1.78" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299500" "04214" "00407146" "00000" "Familial, X-linked" ">49y" "Latest visual acuity: OD 0.48/OS 0.3" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299501" "04214" "00407147" "00000" "Familial, X-linked" ">55y" "Latest visual acuity: OD 0.18/OS 0.6" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299502" "04214" "00407148" "00000" "Familial, X-linked" ">32y" "Latest visual acuity: OD 2.3/OS 0.78" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299503" "04214" "00407149" "00000" "Familial, X-linked" ">42y" "Latest visual acuity: OD -0.08/OS -0.08" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299504" "04214" "00407150" "00000" "Familial, X-linked" ">54y" "Latest visual acuity: OD 2.3/OS 1.3" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299505" "04214" "00407151" "00000" "Familial, X-linked" ">30y" "Latest visual acuity: OD 0.48/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299506" "04214" "00407152" "00000" "Familial, X-linked" ">26y" "Latest visual acuity: OD 0/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299507" "04214" "00407153" "00000" "Familial, X-linked" ">19y" "Latest visual acuity: OD 0.18/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299508" "04214" "00407154" "00000" "Familial, X-linked" ">58y" "Latest visual acuity: OD 0.78/OS 0.3" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299509" "04214" "00407155" "00000" "Familial, X-linked" ">68y" "Latest visual acuity: OD 0.6/OS 0.3" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299510" "04214" "00407156" "00000" "Familial, X-linked" ">20y" "Latest visual acuity: OD 0.1/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299511" "04214" "00407157" "00000" "Familial, X-linked" ">55y" "Latest visual acuity: OD 0.18/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299512" "04214" "00407158" "00000" "Familial, X-linked" ">27y" "Latest visual acuity: OD 0.18/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299513" "04214" "00407159" "00000" "Familial, X-linked" ">66y" "Latest visual acuity: OD 0.18/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299514" "04214" "00407160" "00000" "Familial, X-linked" ">20y" "Latest visual acuity: OD 0.1/OS 0.2" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299515" "04214" "00407161" "00000" "Familial, X-linked" ">52y" "Latest visual acuity: OD 0/OS 0.48" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299516" "04214" "00407162" "00000" "Familial, X-linked" ">21y" "Latest visual acuity: OD 0.3/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299517" "04214" "00407163" "00000" "Familial, X-linked" ">18y" "Latest visual acuity: OD 0.2/OS 0.2" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299518" "04214" "00407164" "00000" "Familial, X-linked" ">11y" "Latest visual acuity: OD 0.14/OS 0.16" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299519" "04214" "00407165" "00000" "Familial, X-linked" ">49y" "Latest visual acuity: OD 0.3/OS 1.9" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299520" "04214" "00407166" "00000" "Familial, X-linked" ">67y" "Latest visual acuity: OD 1/OS 0.3" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299521" "04214" "00407167" "00000" "Familial, X-linked" ">52y" "Latest visual acuity: OD 0.6/OS 1" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299522" "04214" "00407168" "00000" "Familial, X-linked" ">32y" "Latest visual acuity: OD 0.3/OS 0.3" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299523" "04214" "00407169" "00000" "Familial, X-linked" ">22y" "Latest visual acuity: OD 0.6/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299524" "04214" "00407170" "00000" "Familial, X-linked" ">30y" "Latest visual acuity: OD 0.18/OS 0.48" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299525" "04214" "00407171" "00000" "Familial, X-linked" ">22y" "Latest visual acuity: OD 0/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299526" "04214" "00407172" "00000" "Familial, X-linked" ">18y" "Latest visual acuity: OD 0/OS 0.78" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299527" "04214" "00407173" "00000" "Familial, X-linked" ">34y" "Latest visual acuity: OD 0.18/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299528" "04214" "00407174" "00000" "Familial, X-linked" ">44y" "Latest visual acuity: OD 0/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299529" "04214" "00407175" "00000" "Familial, X-linked" ">41y" "Latest visual acuity: OD 0/OS 1.48" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299530" "04214" "00407176" "00000" "Familial, X-linked" ">22y" "Latest visual acuity: OD 0/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299531" "04214" "00407177" "00000" "Familial, X-linked" ">37y" "Latest visual acuity: OD 0/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299532" "04214" "00407178" "00000" "Familial, X-linked" ">29y" "Latest visual acuity: OD 0/OS 0.3" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299533" "04214" "00407179" "00000" "Familial, X-linked" ">50y" "Latest visual acuity: OD 0/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299534" "04214" "00407180" "00000" "Familial, X-linked" ">54y" "Latest visual acuity: OD 0.1/OS 0.48" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299535" "04214" "00407181" "00000" "Familial, X-linked" ">34y" "Latest visual acuity: OD 0.1/OS 0.3" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299536" "04214" "00407182" "00000" "Familial, X-linked" ">22y" "Latest visual acuity: OD -0.08/OS -0.08" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299537" "04214" "00407183" "00000" "Familial, X-linked" ">58y" "Latest visual acuity: OD 0.78/OS 0.6" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299538" "04214" "00407184" "00000" "Familial, X-linked" ">60y" "Latest visual acuity: OD 0/OS -0.08" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299539" "04214" "00407185" "00000" "Familial, X-linked" ">22y" "Latest visual acuity: OD 0.6/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299540" "04214" "00407186" "00000" "Familial, X-linked" ">57y" "Latest visual acuity: OD 0.48/OS 0.48" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299541" "04214" "00407187" "00000" "Familial, X-linked" ">52y" "Latest visual acuity: OD 2.7/OS 0.78" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299542" "04214" "00407188" "00000" "Familial, X-linked" ">42y" "Latest visual acuity: OD NA/OS NA" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299543" "04214" "00407189" "00000" "Familial, X-linked" ">14y" "Latest visual acuity: OD 0/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299544" "04214" "00407190" "00000" "Familial, X-linked" ">26y" "Latest visual acuity: OD 0.1/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299545" "04214" "00407191" "00000" "Familial, X-linked" ">70y" "Latest visual acuity: OD NA/OS NA" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299546" "04214" "00407192" "00000" "Familial, X-linked" ">46y" "Latest visual acuity: OD 0.6/OS 1" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299547" "04214" "00407193" "00000" "Familial, X-linked" ">58y" "Latest visual acuity: OD 0.18/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299548" "04214" "00407194" "00000" "Familial, X-linked" ">24y" "Latest visual acuity: OD 0/OS -0.08" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299549" "04214" "00407195" "00000" "Familial, X-linked" ">38y" "Latest visual acuity: OD -0.08/OS -0.08" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299550" "04214" "00407196" "00000" "Familial, X-linked" ">40y" "Latest visual acuity: OD 0.18/OS -0.08" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299551" "04214" "00407197" "00000" "Familial, X-linked" ">51y" "Latest visual acuity: OD 2.3/OS 2.7" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299552" "04214" "00407198" "00000" "Familial, X-linked" ">60y" "Latest visual acuity: OD 0.78/OS 0.3" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299553" "04214" "00407199" "00000" "Familial, X-linked" ">43y" "Latest visual acuity: OD 0.18/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299554" "04214" "00407200" "00000" "Familial, X-linked" ">25y" "Latest visual acuity: OD 0/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299555" "04214" "00407201" "00000" "Familial, X-linked" ">70y" "Latest visual acuity: OD 0.3/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299556" "04214" "00407202" "00000" "Familial, X-linked" ">43y" "Latest visual acuity: OD 0.6/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299557" "04214" "00407203" "00000" "Familial, X-linked" ">23y" "Latest visual acuity: OD 0.1/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299558" "04214" "00407204" "00000" "Familial, X-linked" ">53y" "Latest visual acuity: OD 0.78/OS 0.48" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299559" "04214" "00407205" "00000" "Familial, X-linked" ">46y" "Latest visual acuity: OD 0.18/OS 0.3" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299560" "04214" "00407206" "00000" "Familial, X-linked" ">58y" "Latest visual acuity: OD NA/OS NA" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299561" "04214" "00407207" "00000" "Familial, X-linked" ">42y" "Latest visual acuity: OD 0/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299562" "04214" "00407208" "00000" "Familial, X-linked" ">43y" "Latest visual acuity: OD 0/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299563" "04214" "00407209" "00000" "Familial, X-linked" ">38y" "Latest visual acuity: OD 0.18/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299564" "04214" "00407210" "00000" "Familial, X-linked" ">46y" "Latest visual acuity: OD 0.78/OS 1" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299565" "04214" "00407211" "00000" "Familial, X-linked" ">27y" "Latest visual acuity: OD 0.1/OS 0.1" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299566" "04214" "00407212" "00000" "Familial, X-linked" ">24y" "Latest visual acuity: OD 0/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299567" "04214" "00407213" "00000" "Familial, X-linked" ">43y" "Latest visual acuity: OD -0.08/OS -0.08" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299568" "04214" "00407214" "00000" "Familial, X-linked" ">47y" "Latest visual acuity: OD 0/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299569" "04214" "00407215" "00000" "Familial, X-linked" ">53y" "Latest visual acuity: OD 2.7/OS 0.48" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299570" "04214" "00407216" "00000" "Familial, X-linked" ">31y" "Latest visual acuity: OD 0/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299571" "04214" "00407217" "00000" "Familial, X-linked" ">33y" "Latest visual acuity: OD -0.08/OS -0.08" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299572" "04214" "00407218" "00000" "Familial, X-linked" ">30y" "Latest visual acuity: OD 0.18/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299573" "04214" "00407219" "00000" "Familial, X-linked" ">25y" "Latest visual acuity: OD 0.18/OS 0.3" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299574" "04214" "00407220" "00000" "Familial, X-linked" ">51y" "Latest visual acuity: OD 0.18/OS 0.48" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299575" "04214" "00407221" "00000" "Familial, X-linked" ">43y" "Latest visual acuity: OD 0/OS 0" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299576" "04214" "00407222" "00000" "Familial, X-linked" ">59y" "Latest visual acuity: OD 0.18/OS 0.18" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000299577" "04214" "00407223" "00000" "Familial, X-linked" ">66y" "Latest visual acuity: OD 0.48/OS NA" "" "" "" "" "" "" "" "" "" "" "choroideremia (CHM)" "" "0000306312" "00198" "00414477" "00000" "Unknown" "51y" "Choroideremia;Cone-Rod Dystrophy 6" "" "" "" "" "" "" "" "" "" "" "" "" "0000311735" "04214" "00420487" "00000" "Familial, X-linked" "45y11m" "" "1y" "" "" "" "" "" "" "" "" "choroideremia" "" "" "0000311746" "04214" "00420498" "00000" "Familial, X-linked" "24y1m" "" "8y" "" "" "" "" "" "" "" "" "choroideremia" "" "" "0000320541" "00112" "00429669" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320886" "04214" "00430014" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320998" "00112" "00430126" "04436" "Paternal, Y-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000334634" "02223" "00361923" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" "0000336262" "00198" "00447063" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "choroideraemia" "" "0000336263" "00198" "00447064" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "choroideraemia" "" "0000336264" "00198" "00447065" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "choroideraemia" "" "0000336265" "00198" "00447066" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "choroideraemia" "" "0000336266" "00198" "00447067" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "choroideraemia" "" "0000336267" "00198" "00447068" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "choroideraemia" "" "0000336268" "00198" "00447069" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "choroideraemia" "" "0000336269" "00198" "00447070" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "choroideraemia" "" "0000336270" "00198" "00447071" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "choroideraemia" "" "0000336271" "00198" "00447072" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "choroideraemia" "" "0000336272" "00198" "00447073" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "choroideraemia" "" "0000336273" "00198" "00447074" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "choroideraemia" "" "0000336507" "00198" "00447308" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336725" "00198" "00447526" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000352983" "04214" "00467829" "00006" "Familial, X-linked recessive" "50y" "see paper; ..., BVCA right 20/20-2, left 20/80; mild progression visual field; night blindness, legally blind" "38y" "" "" "" "" "" "" "" "" "CHM" "choroideremia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 969 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000165639" "00164773" "1" "00110" "00110" "2018-06-11 14:42:14" "" "" "RT-PCR;SEQ;Western" "DNA" "" "" "0000165640" "00164774" "1" "00110" "00110" "2018-06-11 14:49:41" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000165641" "00164775" "1" "00110" "00110" "2018-06-11 14:58:02" "" "" "RT-PCR;SEQ;Western" "DNA" "" "" "0000167131" "00166252" "1" "00124" "00124" "2009-10-28 15:09:48" "00110" "2017-03-24 21:01:43" "SEQ" "DNA" "" "" "0000167132" "00166253" "1" "00124" "00124" "2009-10-28 15:09:48" "00110" "2017-04-03 11:37:32" "SEQ" "DNA" "" "" "0000167133" "00166254" "1" "00124" "00124" "2009-10-28 15:09:48" "00110" "2017-04-03 11:37:32" "SEQ" "DNA" "" "" "0000167134" "00166255" "1" "00110" "00110" "2010-02-15 09:30:41" "00110" "2017-04-03 11:37:32" "SEQ" "DNA" "" "" "0000167135" "00166256" "1" "00110" "00110" "2010-02-15 09:55:13" "00110" "2017-04-03 11:37:32" "SEQ" "DNA" "" "" "0000167136" "00166257" "1" "00110" "00110" "2010-02-15 10:29:12" "00110" "2017-04-03 11:37:32" "SEQ" "DNA" "" "" "0000167137" "00166258" "1" "00110" "00110" "2010-02-15 10:43:45" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167138" "00166259" "1" "00110" "00110" "2010-02-15 10:52:12" "00110" "2017-04-03 11:37:32" "SEQ" "DNA" "" "" "0000167139" "00166260" "1" "00110" "00110" "2010-02-15 10:58:42" "00110" "2017-04-03 11:37:32" "SEQ" "DNA" "" "" "0000167140" "00166261" "1" "00110" "00110" "2010-02-15 11:00:10" "00110" "2017-04-03 11:37:32" "SEQ" "DNA" "" "" "0000167141" 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17:35:39" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167264" "00166385" "1" "00110" "00110" "2010-03-02 17:37:14" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167265" "00166386" "1" "00110" "00110" "2010-03-02 17:38:24" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167266" "00166387" "1" "00110" "00110" "2010-03-02 17:39:50" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167267" "00166388" "1" "00110" "00110" "2010-03-02 17:41:06" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167268" "00166389" "1" "00110" "00110" "2010-03-02 17:42:53" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167269" "00166390" "1" "00110" "00110" "2010-03-02 17:44:36" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167270" "00166391" "1" "00110" "00110" "2010-03-02 17:49:17" "00110" "2017-04-03 11:37:33" "SSCA" "DNA" "" "" "0000167271" "00166392" "1" "00110" "00110" "2010-03-02 17:53:57" "00110" "2017-04-03 11:37:33" "SSCA" "DNA" "" "" "0000167272" "00166393" "1" "00110" "00110" "2010-03-08 08:55:10" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167273" "00166394" "1" "00110" "00110" "2010-03-08 08:57:16" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167274" "00166395" "1" "00110" "00110" "2010-03-08 09:03:27" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167275" "00166396" "1" "00110" "00110" "2010-03-08 09:08:00" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167276" "00166397" "1" "00110" "00110" "2010-03-08 09:09:46" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167277" "00166398" "1" "00110" "00110" "2010-03-08 09:15:31" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167278" "00166399" "1" "00110" "00110" "2010-03-08 09:17:08" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167279" "00166400" "1" "00110" "00110" "2010-03-08 09:18:46" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167280" "00166401" "1" "00110" "00110" "2010-03-08 09:24:04" "00110" "2017-04-03 11:37:33" "SSCA" "DNA" "" "" "0000167306" "00166427" "1" "00110" "00110" "2010-03-12 14:24:54" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167307" "00166428" "1" "00110" "00110" "2010-03-12 14:32:27" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167308" "00166429" "1" "00110" "00110" "2010-03-12 14:34:10" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167309" "00166430" "1" "00110" "00110" "2010-03-12 14:38:13" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167310" "00166431" "1" "00110" "00110" "2010-03-12 15:04:15" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167311" "00166432" "1" "00110" "00110" "2010-03-12 15:05:16" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167312" "00166433" "1" "00110" "00110" "2010-03-12 15:10:12" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167313" "00166434" "1" "00110" "00110" "2010-03-12 15:11:23" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167314" "00166435" "1" "00110" "00110" "2010-03-12 15:13:40" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167315" "00166436" "1" "00110" "00110" "2010-03-12 15:15:21" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167316" "00166437" "1" "00110" "00110" "2010-03-12 15:16:19" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167317" "00166438" "1" "00110" "00110" "2010-03-12 15:21:56" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167318" "00166439" "1" "00110" "00110" "2010-03-12 15:23:54" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167319" "00166440" "1" "00110" "00110" "2010-03-12 15:25:19" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167320" "00166441" "1" "00110" "00110" "2010-03-12 15:32:16" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167321" "00166442" "1" "00110" "00110" "2010-03-12 15:35:01" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167322" "00166443" "1" "00110" "00110" "2010-03-12 15:36:55" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167323" "00166444" "1" "00110" "00110" "2010-03-12 15:39:33" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167324" "00166445" "1" "00110" "00110" "2010-03-12 15:41:53" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167325" "00166446" "1" "00110" "00110" "2010-03-12 15:44:00" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167326" "00166447" "1" "00110" "00110" "2010-03-12 15:49:52" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167327" "00166448" "1" "00110" "00110" "2010-03-12 15:51:09" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167328" "00166449" "1" "00110" "00110" "2010-03-12 17:08:55" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167329" "00166450" "1" "00110" "00110" "2010-03-12 17:12:27" "00110" "2017-04-03 11:39:50" "SEQ" "DNA" "" "" "0000167330" "00166451" "1" "00110" "00110" "2010-03-12 17:16:21" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167331" "00166452" "1" "00110" "00110" "2010-03-12 17:18:29" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167332" "00166453" "1" "00110" "00110" "2010-03-12 17:20:31" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167333" "00166454" "1" "00110" "00110" "2010-03-12 17:23:49" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167334" "00166455" "1" "00110" "00110" "2010-03-12 17:26:01" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167335" "00166456" "1" "00110" "00110" "2010-03-12 17:42:12" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167336" "00166457" "1" "00110" "00110" "2010-03-12 17:44:14" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167337" "00166458" "1" "00110" "00110" "2010-03-12 17:45:34" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167338" "00166459" "1" "00110" "00110" "2010-03-12 17:47:17" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167339" "00166460" "1" "00110" "00110" "2010-03-12 17:48:49" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167340" "00166461" "1" "00110" "00110" "2010-03-12 17:50:05" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167341" "00166462" "1" "00110" "00110" "2010-04-02 09:13:19" "00110" "2017-04-03 11:39:50" "SEQ" "DNA" "" "" "0000167342" "00166463" "1" "00110" "00110" "2010-04-02 09:17:29" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167343" "00166464" "1" "00110" "00110" "2010-04-02 09:45:27" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167344" "00166465" "1" "00110" "00110" "2010-04-02 09:47:55" "00110" "2017-04-18 14:48:16" "SEQ" "DNA" "" "" "0000167345" "00166466" "1" "00110" "00110" "2010-04-02 09:54:33" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167428" "00166549" "1" "02420" "02420" "2011-07-18 15:48:21" "00110" "2017-04-03 11:37:33" "PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167429" "00166550" "1" "02420" "02420" "2011-07-18 15:58:23" "00110" "2017-04-03 11:37:33" "PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167430" "00166551" "1" "02420" "02420" "2011-07-18 16:10:16" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167431" "00166552" "1" "02420" "02420" "2011-07-18 16:18:17" "00110" "2017-04-03 11:37:33" "PCR" "DNA" "" "" "0000167432" "00166553" "1" "02420" "02420" "2011-07-18 16:35:15" "00110" "2017-04-18 17:32:06" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167433" "00166554" "1" "02420" "02420" "2011-07-18 16:48:25" "00110" "2017-04-03 11:37:33" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167434" "00166555" "1" "02420" "02420" "2011-07-18 16:52:30" "00110" "2017-04-03 11:37:33" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167435" "00166556" "1" "02420" "02420" "2011-07-18 17:00:10" "00110" "2017-04-03 11:37:33" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167436" "00166557" "1" "02420" "02420" "2011-07-18 17:02:26" "00110" "2017-04-03 11:37:33" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167437" "00166558" "1" "02420" "02420" "2011-07-18 17:13:34" "00110" "2017-04-03 11:37:33" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167438" "00166559" "1" "02420" "02420" "2011-07-18 17:15:54" "00110" "2017-04-03 11:37:33" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167439" "00166560" "1" "02420" "02420" "2011-07-18 17:18:18" "00110" "2017-04-03 11:37:33" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167440" "00166561" "1" "02420" "02420" "2011-07-18 17:41:52" "00110" "2017-04-03 11:37:33" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167441" "00166562" "1" "02420" "02420" "2011-07-18 17:47:59" "00110" "2017-04-03 11:37:33" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167442" "00166563" "1" "02420" "02420" "2011-07-18 17:52:19" "00110" "2017-04-03 11:37:33" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167448" "00166569" "1" "02416" "02416" "2011-09-02 16:28:34" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167449" "00166570" "1" "02416" "02416" "2011-09-02 16:29:43" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167450" "00166571" "1" "02416" "02416" "2011-09-02 16:31:17" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167451" "00166572" "1" "02416" "02416" "2011-09-02 16:37:00" "00110" "2017-04-03 11:37:33" "SEQ" "DNA" "" "" "0000167452" "00166573" "1" "02416" "02416" "2011-09-02 16:47:59" "00110" "2017-04-03 11:37:34" "SEQ" "DNA" "" "" "0000167453" "00166574" "1" "02416" "02416" "2011-09-02 16:49:05" "00110" "2017-04-03 11:37:34" "SEQ" "DNA" "" "" "0000167454" "00166575" "1" "02416" "02416" "2011-09-02 17:08:14" "00110" "2017-04-03 11:37:34" "SEQ" "DNA" "" "" "0000167455" "00166576" "1" "02416" "02416" "2011-09-05 09:26:17" "00110" "2017-04-03 11:37:34" "SEQ;Western" "DNA;protein" "" "" "0000167456" "00166577" "1" "02416" "02416" "2011-09-05 09:42:49" "00110" "2017-04-03 11:37:34" "SEQ;Western" "DNA;protein" "" "" "0000167457" "00166578" "1" "02416" "02416" "2011-09-05 09:48:23" "00110" "2017-04-03 11:37:34" "SEQ;Western" "DNA;protein" "" "" "0000167458" "00166579" "1" "02416" "02416" "2011-09-05 10:41:24" "00110" "2017-04-03 11:37:34" "SEQ;Western" "DNA;protein" "" "" "0000167459" "00166580" "1" "02416" "02416" "2011-09-06 11:32:39" "00110" "2017-04-03 11:37:34" "SEQ" "DNA;RNA;protein" "" "" "0000167460" "00166581" "1" "02416" "02416" "2011-09-06 11:34:48" "00110" "2017-04-18 14:48:16" "SEQ" "DNA;RNA;protein" "" "" "0000167461" "00166582" "1" "02416" "02416" "2011-09-06 11:37:13" "00110" "2017-04-03 11:37:34" "SEQ" "DNA;RNA;protein" "" "" "0000167462" "00166583" "1" "02416" "02416" "2011-09-06 11:39:17" "00110" "2017-04-03 11:37:34" "SEQ" "DNA;RNA;protein" "" "" "0000167463" "00166584" "1" "02416" "02416" "2011-09-06 11:42:24" "00110" "2017-04-03 11:37:34" "SEQ" "DNA;RNA;protein" "" "" "0000167464" "00166585" "1" "02416" "02416" "2011-09-06 11:43:14" "00110" "2017-04-03 11:37:34" "SEQ" "DNA;RNA;protein" "" "" "0000167465" "00166586" "1" "02416" "02416" "2011-09-06 11:44:13" "00110" "2017-04-03 11:37:34" "SEQ" "DNA;RNA;protein" "" "" "0000167466" "00166587" "1" "02416" "02416" "2011-09-06 11:55:16" "00110" "2017-04-03 11:37:34" "SEQ" "DNA;RNA;protein" "" "" "0000167467" "00166588" "1" "02416" "02416" "2011-09-06 14:09:58" "00110" "2017-04-03 11:37:34" "SEQ" "DNA" "" "" "0000167468" "00166589" "1" "02416" "02416" "2011-09-06 14:12:17" "00110" "2017-04-03 11:37:34" "SEQ" "DNA" "" "" "0000167764" "00166885" "1" "02416" "02416" "2011-10-10 16:19:04" "00110" "2017-04-03 11:37:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000167765" "00166886" "1" "02416" "02416" "2011-10-10 16:25:33" "00110" "2017-04-18 14:48:16" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167766" "00166887" "1" "02416" "02416" "2011-10-10 16:26:55" "00110" "2017-04-18 14:48:16" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167767" "00166888" "1" "02416" "02416" "2011-10-10 16:29:17" "00110" "2017-04-03 11:37:34" "PCR;PTT;RT-PCR;SEQ" "DNA;RNA;protein" "" "" "0000167775" "00166896" "1" "02416" "02416" "2012-03-15 17:07:20" "00110" "2017-04-03 11:37:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167777" "00166898" "1" "02416" "02416" "2012-03-15 17:43:27" "00110" "2017-04-03 11:37:34" "SEQ;SEQ-NG-S" "DNA" "" "" 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20:41:45" "SEQ" "DNA" "" "" "0000246422" "00245310" "1" "03351" "03351" "2014-05-13 20:57:31" "" "" "SEQ" "DNA" "" "" "0000246423" "00245311" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 22:31:15" "SEQ" "DNA" "" "" "0000246424" "00245312" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 22:35:22" "SEQ" "DNA" "" "" "0000246425" "00245313" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 22:39:04" "SEQ" "DNA" "" "" "0000246426" "00245314" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 22:43:13" "SEQ" "DNA" "" "" "0000246427" "00245315" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 22:48:09" "SEQ" "DNA" "" "" "0000246428" "00245316" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-03 22:29:08" "SEQ" "DNA" "" "" "0000246429" "00245317" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 22:55:20" "SEQ" "DNA" "" "" "0000246430" "00245318" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 23:08:49" "SEQ" "DNA" "" "" "0000246431" "00245319" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 23:13:26" "SEQ" "DNA" "" "" "0000246432" "00245320" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 23:17:14" "SEQ" "DNA" "" "" "0000246433" "00245321" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 23:19:52" "SEQ" "DNA" "" "" "0000246434" "00245322" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 23:23:00" "SEQ" "DNA" "" "" "0000246435" "00245323" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 23:27:44" "SEQ" "DNA" "" "" "0000246436" "00245324" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 23:42:54" "SEQ" "DNA" "" "" "0000246437" "00245325" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 23:48:28" "SEQ" "DNA" "" "" "0000246438" "00245326" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 23:50:33" "SEQ" "DNA" "" "" "0000246439" "00245327" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 23:54:36" "SEQ" "DNA" "" "" "0000246440" "00245328" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-14 23:57:56" "SEQ" "DNA" "" "" "0000246441" "00245329" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-15 00:00:30" "SEQ" "DNA" "" "" "0000246442" "00245330" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-15 00:04:17" "SEQ" "DNA" "" "" "0000246443" "00245331" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-15 00:08:20" "SEQ" "DNA" "" "" "0000246444" "00245332" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-15 00:11:39" "SEQ" "DNA" "" "" "0000246445" "00245333" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-15 00:14:16" "SEQ" "DNA" "" "" "0000246446" "00245334" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-15 00:17:53" "SEQ" "DNA" "" "" "0000246447" "00245335" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-15 00:20:35" "SEQ" "DNA" "" "" "0000246448" "00245336" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-15 00:22:36" "SEQ" "DNA" "" "" "0000246449" "00245337" "1" "03351" "03351" "2014-05-13 20:57:31" "03351" "2014-07-15 00:25:09" "SEQ" "DNA" "" "" "0000246450" "00245338" "1" "03351" "03351" "2014-05-13 20:57:31" "" "" "SEQ" "DNA" "" "" "0000246451" "00245339" "1" "03351" "03351" "2014-05-13 20:57:31" "" "" "SEQ" "DNA" "" "" "0000309822" "00308677" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel" "0000310184" "00309039" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310185" "00309040" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310186" "00309041" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310187" "00309042" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310188" "00309043" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310189" "00309044" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310190" "00309045" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310191" "00309046" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310192" "00309047" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310193" "00309048" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310194" "00309049" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310195" "00309050" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000321360" "00320175" "1" "01807" "01807" "2020-11-23 17:48:01" "" "" "SEQ" "DNA" "" "" "0000328861" "00327646" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000328862" "00327647" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000328863" "00327648" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000328864" "00327649" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328865" "00327650" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328866" "00327651" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328867" "00327652" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328868" "00327653" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328869" "00327654" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000328870" "00327655" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000328871" "00327656" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000328872" "00327657" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328873" "00327658" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328874" "00327659" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328875" "00327660" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328876" "00327661" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328877" "00327662" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328878" "00327663" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328879" "00327664" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328880" "00327665" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328881" "00327666" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328882" "00327667" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328883" "00327668" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328884" "00327669" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328885" "00327670" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328886" "00327671" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328887" "00327672" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328888" "00327673" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000328889" "00327674" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328890" "00327675" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000328891" "00327676" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328892" "00327677" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328893" "00327678" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328894" "00327679" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328895" "00327680" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328896" "00327681" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328897" "00327682" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328898" "00327683" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328899" "00327684" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328900" "00327685" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328901" "00327686" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328902" "00327687" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328903" "00327688" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000328904" "00327689" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328905" "00327690" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328906" "00327691" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328907" "00327692" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "SEQ" "DNA" "" "" "0000328908" "00327693" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000328909" "00327694" "1" "00228" "00006" "2021-01-26 15:24:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000329416" "00328201" "1" "00000" "00006" "2021-01-27 12:09:59" "00006" "2021-01-28 14:43:13" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000329734" "00328520" "1" "00000" "00006" "2021-01-27 12:09:59" "00006" "2021-01-28 14:49:03" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000332919" "00331700" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000333397" "00332177" "1" "00006" "00006" "2021-02-15 14:35:12" "" "" "SEQ" "DNA" "" "WES" "0000333398" "00332178" "1" "00006" "00006" "2021-02-15 14:39:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000333399" "00332179" "1" "00006" "00006" "2021-02-15 14:43:07" "" "" "SEQ" "DNA" "" "WES" "0000333400" "00332180" "1" "00006" "00006" "2021-02-15 14:58:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000334618" "00333393" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000334966" "00333740" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334967" "00333741" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334968" "00333742" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334969" "00333743" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334970" "00333744" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334971" "00333745" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334972" "00333746" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334973" "00333747" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334974" "00333748" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334975" "00333749" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334976" "00333750" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334977" "00333751" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334978" "00333752" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334979" "00333753" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000336548" "00335319" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336549" "00335320" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336551" "00335322" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000337196" "00335966" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359951" "00358721" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359952" "00358722" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359953" "00358723" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359954" "00358724" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359955" "00358725" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360023" "00358793" "1" "00000" "00006" "2021-03-12 09:26:03" "" "" "SEQ-NG" "DNA" "" "226-gene panel" "0000360192" "00358955" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360358" "00359120" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360388" "00359150" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000363151" "00361923" "1" "04043" "04043" "2021-04-12 13:48:00" "" "" "SEQ-PB" "DNA" "" "" "0000364727" "00363499" "1" "04059" "04059" "2021-04-28 10:41:26" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000364804" "00363576" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373753" "00372520" "1" "00006" "00006" "2021-05-08 12:08:42" "" "" "SEQ" "DNA" "" "" "0000374593" "00373358" "1" "00000" "00006" "2021-05-14 10:24:46" "" "" "PE;SEQ" "DNA" "" "APEX" "0000375097" "00373865" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000375108" "00373876" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000376552" "00375355" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000378431" "00377226" "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" "0000378432" "00377227" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378433" "00377228" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378700" "00377497" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378701" "00377498" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000379215" "00378011" "1" "03508" "03508" "2021-08-03 02:50:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000380870" "00379670" "1" "03508" "03508" "2021-08-06 08:54:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000380946" "00379744" "1" "03508" "03508" "2021-08-09 03:39:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000381021" "00379819" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381385" "00380183" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000381386" "00380184" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000383009" "00381793" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000383465" "00382251" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383466" "00382252" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000384748" "00383523" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper" "0000385465" "00384240" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385670" "00384445" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385700" "00384475" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385727" "00384502" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000387389" "00386160" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387935" "00386707" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;PCRq" "DNA" "blood" "" "0000387990" "00386762" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000389789" "00388547" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000389801" "00388559" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000389983" "00388740" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000389984" "00388741" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000389985" "00388742" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000389986" "00388743" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000389992" "00388749" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390000" "00388757" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390048" "00388805" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390049" "00388806" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390073" "00388830" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390080" "00388837" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390107" "00388864" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390111" "00388868" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "MLPA" "DNA" "blood" "MLPA" "0000390112" "00388869" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390113" "00388870" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "MLPA" "DNA" "blood" "MLPA" "0000390133" "00388890" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390145" "00388902" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390151" "00388908" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390169" "00388926" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390172" "00388929" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390173" "00388930" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390178" "00388935" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390181" "00388938" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390182" "00388939" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390189" "00388946" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390192" "00388949" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390201" "00388958" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390204" "00388961" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390209" "00388966" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390210" "00388967" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390213" "00388970" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390217" "00388974" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390220" "00388977" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "MLPA" "DNA" "blood" "MLPA" "0000390221" "00388978" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390222" "00388979" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "MLPA" "DNA" "blood" "MLPA" "0000390223" "00388980" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390229" "00388986" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390232" "00388989" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390242" "00388999" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390244" "00389001" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "MLPA" "DNA" "blood" "MLPA" "0000390245" "00389002" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390248" "00389005" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390253" "00389010" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390257" "00389014" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390278" "00389035" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390279" "00389036" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390280" "00389037" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390281" "00389038" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390285" "00389042" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390286" "00389043" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390287" "00389044" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000392396" "00391154" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392792" "00391550" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392793" "00391551" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392794" "00391552" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000393844" "00392597" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393875" "00392628" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393921" "00392674" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000394707" "00393459" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394708" "00393460" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394712" "00393464" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394713" "00393465" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394766" "00393518" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394787" "00393539" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394812" "00393564" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394833" "00393585" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394887" "00393639" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394892" "00393644" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394928" "00393680" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395070" "00393822" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395608" "00394361" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000395609" "00394362" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000396049" "00394802" "1" "00000" "03840" "2021-12-02 12:05:39" "" "" "SEQ-NG" "DNA" "" "" "0000396050" "00394803" "1" "00000" "03840" "2021-12-02 12:05:39" "" "" "SEQ-NG" "DNA" "" "" "0000396052" "00394805" "1" "00000" "03840" "2021-12-02 12:05:39" "" "" "SEQ-NG" "DNA" "" "" "0000396053" "00394806" "1" "00000" "03840" "2021-12-02 12:05:39" "" "" "SEQ-NG" "DNA" "" "" "0000396056" "00394809" "1" "00000" "03840" "2021-12-02 12:05:39" "" "" "SEQ-NG" "DNA" "" "" "0000397099" "00395860" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397186" "00395947" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397702" "00396462" "1" "00006" "00006" "2021-12-15 16:38:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000399601" "00398355" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "MLPA" "DNA" "" "" "0000399602" "00398356" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "MLPA" "DNA" "" "" "0000399603" "00398357" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "MLPA" "DNA" "" "" "0000399604" "00398358" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "MLPA" "DNA" "" "" "0000399605" "00398359" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "MLPA" "DNA" "" "" "0000399606" "00398360" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "MLPA;PCR" "DNA" "" "" "0000399607" "00398361" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "MLPA" "DNA" "" "" "0000399608" "00398362" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "MLPA" "DNA" "" "" "0000399609" "00398363" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "MLPA" "DNA" "" "" "0000399610" "00398364" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399611" "00398365" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399612" "00398366" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399613" "00398367" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399614" "00398368" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399615" "00398369" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399616" "00398370" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399617" "00398371" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399618" "00398372" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399619" "00398373" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "MLPA;SEQ" "DNA" "" "" "0000399620" "00398374" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "MLPA;SEQ" "DNA" "" "" "0000399621" "00398375" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "PCR;SEQ" "DNA" "blood" "" "0000399622" "00398376" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "?" "DNA" "" "" "0000399623" "00398377" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "?" "DNA" "" "" "0000399624" "00398378" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "?" "DNA" "" "" "0000399625" "00398379" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "?" "DNA" "" "" "0000399626" "00398380" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "?" "DNA" "" "" "0000399627" "00398381" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "?" "DNA" "" "" "0000399628" "00398382" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "PCR;SEQ" "DNA" "blood" "" "0000399629" "00398383" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "PCR;SEQ" "DNA" "blood" "" "0000399630" "00398384" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "PCR;SEQ" "DNA" "blood" "" "0000399631" "00398385" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "PCR;SEQ" "DNA" "" "" "0000399632" "00398386" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "PCR;SEQ" "DNA" "" "" "0000399633" "00398387" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "?" "DNA" "" "" "0000399634" "00398388" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "?" "DNA" "" "" "0000399635" "00398389" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "?" "DNA" "skin" "" "0000399636" "00398390" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "PCR;SEQ" "RNA" "blood" "" "0000399637" "00398391" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000399638" "00398392" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000399639" "00398393" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000399640" "00398394" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000399641" "00398395" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000399642" "00398396" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000399643" "00398397" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000399644" "00398398" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000399645" "00398399" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000399646" "00398400" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000399647" "00398401" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "arrayCNV;SEQ" "DNA;RNA" "" "" "0000399648" "00398402" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "PCR;SEQ" "DNA;RNA" "blood" "" "0000399649" "00398403" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399650" "00398404" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399651" "00398405" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399652" "00398406" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399653" "00398407" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000399654" "00398408" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399655" "00398409" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399656" "00398410" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399657" "00398411" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399658" "00398412" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399659" "00398413" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399660" "00398414" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399661" "00398415" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399662" "00398416" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399663" "00398417" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399664" "00398418" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399665" "00398419" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399666" "00398420" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399667" "00398421" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399668" "00398422" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000399669" "00398423" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399670" "00398424" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000399671" "00398425" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000399672" "00398426" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000399673" "00398427" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000399674" "00398428" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000399675" "00398429" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000399676" "00398430" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000399677" "00398431" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000399678" "00398432" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000399679" "00398433" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000399680" "00398434" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000399681" "00398435" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000399682" "00398436" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399683" "00398437" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "blood" "" "0000399684" "00398438" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ;PCR" "DNA" "blood" "" "0000399687" "00398441" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399688" "00398442" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted NGS of ocular genes (Retinal Dystrophy Panel v8; 244 genes) TaqMan qPCR analysis (exons 4 and 9 sampled)" "0000399689" "00398443" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "TaqMan;PCRq;SEQ" "DNA" "" "Sanger sequencing of CHM" "0000399690" "00398444" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "TaqMan;PCRq" "DNA" "" "TaqMan qPCR analysis" "0000399691" "00398445" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "" "Sanger sequencing of CHM" "0000399692" "00398446" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399693" "00398447" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399694" "00398448" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399695" "00398449" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399696" "00398450" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted NGS of ocular genes (Retinal Dystrophy Panel v6; 226 genes)" "0000399697" "00398451" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399698" "00398452" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399699" "00398453" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "" "Sanger sequencing of CHM" "0000399700" "00398454" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ;SEQ-NG" "DNA" "" "Con?rmational targeted sequencing" "0000399701" "00398455" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing for con?rmation of variant" "0000399702" "00398456" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399703" "00398457" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399704" "00398458" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399705" "00398459" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399706" "00398460" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399707" "00398461" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399708" "00398462" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399709" "00398463" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399710" "00398464" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ;TaqMan;PCRq" "DNA" "" "Sanger sequencing of CHM TaqMan qPCR analysis" "0000399711" "00398465" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399712" "00398466" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "" "Sanger sequencing of CHM" "0000399713" "00398467" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "" "Sanger sequencing of CHM" "0000399714" "00398468" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "TaqMan;PCRq" "DNA" "" "TaqMan qPCR analysis" "0000399715" "00398469" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted NGS of ocular genes (Vision Panel v1;537 genes)" "0000399716" "00398470" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of familial CHM variant" "0000399717" "00398471" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ" "DNA" "" "Sanger sequencing of CHM" "0000399718" "00398472" "1" "00000" "00008" "2022-01-05 04:00:26" "" "" "SEQ-NG" "DNA" "" "Targeted sequencing of the familial CHM variant" "0000408392" "00407144" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408393" "00407145" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408394" "00407146" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408395" "00407147" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408396" "00407148" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408397" "00407149" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408398" "00407150" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408399" "00407151" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408400" "00407152" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408401" "00407153" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408402" "00407154" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408403" "00407155" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408404" "00407156" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "Western" "DNA" "blood" "" "0000408405" "00407157" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408406" "00407158" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408407" "00407159" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408408" "00407160" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408409" "00407161" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408410" "00407162" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408411" "00407163" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408412" "00407164" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408413" "00407165" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408414" "00407166" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408415" "00407167" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408416" "00407168" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408417" "00407169" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408418" "00407170" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408419" "00407171" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408420" "00407172" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408421" "00407173" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408422" "00407174" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408423" "00407175" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408424" "00407176" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408425" "00407177" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408426" "00407178" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408427" "00407179" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408428" "00407180" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408429" "00407181" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408430" "00407182" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408431" "00407183" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "Western" "DNA" "blood" "" "0000408432" "00407184" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "Western" "DNA" "blood" "" "0000408433" "00407185" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "Western" "DNA" "blood" "" "0000408434" "00407186" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408435" "00407187" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408436" "00407188" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408437" "00407189" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408438" "00407190" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408439" "00407191" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408440" "00407192" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408441" "00407193" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408442" "00407194" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408443" "00407195" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408444" "00407196" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408445" "00407197" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408446" "00407198" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408447" "00407199" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408448" "00407200" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408449" "00407201" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408450" "00407202" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408451" "00407203" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408452" "00407204" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408453" "00407205" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408454" "00407206" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408455" "00407207" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408456" "00407208" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408457" "00407209" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408458" "00407210" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408459" "00407211" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408460" "00407212" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408461" "00407213" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408462" "00407214" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408463" "00407215" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408464" "00407216" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408465" "00407217" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408466" "00407218" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408467" "00407219" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408468" "00407220" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408469" "00407221" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408470" "00407222" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408471" "00407223" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000415757" "00414477" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000421796" "00420487" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421807" "00420498" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000431082" "00429669" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431427" "00430014" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431539" "00430126" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000448640" "00447063" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448641" "00447064" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448642" "00447065" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448643" "00447066" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448644" "00447067" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448645" "00447068" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448646" "00447069" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448647" "00447070" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448648" "00447071" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448649" "00447072" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448650" "00447073" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448651" "00447074" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448885" "00447308" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449103" "00447526" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000469495" "00467829" "1" "00006" "00006" "2025-10-31 22:30:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 508 "{{screeningid}}" "{{geneid}}" "0000165639" "CHM" "0000165640" "CHM" "0000165641" "CHM" "0000167131" "CHM" "0000167132" "CHM" "0000167133" "CHM" "0000246342" "CHM" "0000246343" "CHM" "0000246344" "CHM" "0000246345" "CHM" "0000246346" "CHM" "0000246347" "CHM" "0000246348" "CHM" "0000246349" "CHM" "0000246350" "CHM" "0000246351" "CHM" "0000246352" "CHM" "0000246353" "CHM" "0000246354" "CHM" "0000246355" "CHM" "0000246356" "CHM" "0000246357" "CHM" "0000246358" "CHM" "0000246359" "CHM" "0000246360" "CHM" "0000246361" "CHM" "0000246362" "CHM" "0000246363" "CHM" "0000246364" "CHM" "0000246365" "CHM" "0000246366" "CHM" "0000246367" "CHM" "0000246368" "CHM" "0000246369" "CHM" "0000246370" "CHM" "0000246371" "CHM" "0000246372" "CHM" "0000246373" "CHM" "0000246374" "CHM" "0000246375" "CHM" "0000246376" "CHM" "0000246377" "CHM" "0000246378" "CHM" "0000246379" "CHM" "0000246380" "CHM" "0000246381" "CHM" "0000246382" "CHM" "0000246383" "CHM" "0000246384" "CHM" "0000246385" "CHM" "0000246386" "CHM" "0000246387" "CHM" "0000246388" "CHM" "0000246389" "CHM" "0000246390" "CHM" "0000246391" "CHM" "0000246392" "CHM" "0000246393" "CHM" "0000246394" "CHM" "0000246395" "CHM" "0000246396" "CHM" "0000246397" "CHM" "0000246398" "CHM" "0000246399" "CHM" "0000246400" "CHM" "0000246401" "CHM" "0000246402" "CHM" "0000246415" "CHM" "0000246416" "CHM" "0000246417" "CHM" "0000246418" "CHM" "0000246419" "CHM" "0000246420" "CHM" "0000246421" "CHM" "0000246422" "CHM" "0000246423" "CHM" "0000246424" "CHM" "0000246425" "CHM" "0000246426" "CHM" "0000246427" "CHM" "0000246428" "CHM" "0000246429" "CHM" "0000246430" "CHM" "0000246431" "CHM" "0000246432" "CHM" "0000246433" "CHM" "0000246434" "CHM" "0000246435" "CHM" "0000246436" "CHM" "0000246437" "CHM" "0000246438" "CHM" "0000246439" "CHM" "0000246440" "CHM" "0000246441" "CHM" "0000246442" "CHM" "0000246443" "CHM" "0000246444" "CHM" "0000246445" "CHM" "0000246446" "CHM" "0000246447" "CHM" "0000246448" "CHM" "0000246449" "CHM" "0000246450" "CHM" "0000246451" "CHM" "0000309822" "CHM" "0000310184" "CHM" "0000310185" "CHM" "0000310186" "CHM" "0000310187" "CHM" "0000310188" "CHM" "0000310189" "CHM" "0000310190" "CHM" "0000310191" "CHM" "0000310192" "CHM" "0000310193" "CHM" "0000310194" "CHM" "0000310195" "CHM" "0000328861" "CHM" "0000328862" "CHM" "0000328863" "CHM" "0000328864" "CHM" "0000328865" "CHM" "0000328866" "CHM" "0000328867" "CHM" "0000328868" "CHM" "0000328869" "CHM" "0000328870" "CHM" "0000328871" "CHM" "0000328872" "CHM" "0000328873" "CHM" "0000328874" "CHM" "0000328875" "CHM" "0000328876" "CHM" "0000328877" "CHM" "0000328878" "CHM" "0000328879" "CHM" "0000328880" "CHM" "0000328881" "CHM" "0000328882" "CHM" "0000328883" "CHM" "0000328884" "CHM" "0000328885" "CHM" "0000328886" "CHM" "0000328887" "CHM" "0000328888" "CHM" "0000328889" "CHM" "0000328890" "CHM" "0000328891" "CHM" "0000328892" "CHM" "0000328893" "CHM" "0000328894" "CHM" "0000328895" "CHM" "0000328896" "CHM" "0000328897" "CHM" "0000328898" "CHM" "0000328899" "CHM" "0000328900" "CHM" "0000328901" "CHM" "0000328902" "CHM" "0000328903" "CHM" "0000328904" "CHM" "0000328905" "CHM" "0000328906" "CHM" "0000328907" "CHM" "0000328908" "CHM" "0000328909" "CHM" "0000329416" "CHM" "0000329734" "CHM" "0000332919" "CHM" "0000332919" "MYO7A" "0000333397" "CHM" "0000333400" "CHM" "0000334618" "CHM" "0000334966" "CHM" "0000334967" "CHM" "0000334968" "CHM" "0000334969" "CHM" "0000334970" "CHM" "0000334971" "CHM" "0000334972" "CHM" "0000334973" "CHM" "0000334974" "CHM" "0000334975" "CHM" "0000334976" "CHM" "0000334977" "CHM" "0000334978" "CHM" "0000334979" "CHM" "0000336548" "CHM" "0000336549" "CHM" "0000336551" "CHM" "0000337196" "CHM" "0000359951" "CHM" "0000359952" "CHM" "0000359953" "CHM" "0000359954" "CHM" "0000359955" "CHM" "0000360023" "CHM" "0000363151" "CHM" "0000364727" "CHM" "0000364804" "CHM" "0000373753" "CHM" "0000375097" "CHM" "0000375108" "CHM" "0000376552" "CHM" "0000378431" "CHM" "0000378432" "CHM" "0000378433" "CHM" "0000378700" "CHM" "0000378701" "CHM" "0000381021" "CHM" "0000381385" "CHM" "0000381386" "CHM" "0000383009" "CHM" "0000383465" "CHM" "0000383466" "CHM" "0000384748" "CHM" "0000385465" "CHM" "0000385670" "CHM" "0000385700" "CHM" "0000385727" "CHM" "0000387389" "C1QTNF5" "0000387935" "CHM" "0000387990" "CHM" "0000389789" "CHM" "0000389801" "CHM" "0000389983" "CHM" "0000389984" "CHM" "0000389985" "CHM" "0000389986" "CHM" "0000389992" "CHM" "0000390000" "CHM" "0000390048" "CHM" "0000390049" "CHM" "0000390073" "CHM" "0000390080" "CHM" "0000390107" "CHM" "0000390111" "CHM" "0000390112" "CHM" "0000390113" "CHM" "0000390133" "CHM" "0000390145" "CHM" "0000390151" "CHM" "0000390169" "CHM" "0000390172" "CHM" "0000390173" "CHM" "0000390178" "CHM" "0000390181" "CHM" "0000390182" "CHM" "0000390189" "CHM" "0000390192" "CHM" "0000390201" "CHM" "0000390204" "CHM" "0000390209" "CHM" "0000390210" "CHM" "0000390213" "CHM" "0000390217" "CHM" "0000390220" "CHM" "0000390221" "CHM" "0000390222" "CHM" "0000390223" "CHM" "0000390229" "CHM" "0000390232" "CHM" "0000390242" "CHM" "0000390244" "CHM" "0000390245" "CHM" "0000390248" "CHM" "0000390253" "CHM" "0000390257" "CHM" "0000390278" "CHM" "0000390279" "CHM" "0000390280" "CHM" "0000390281" "CHM" "0000390285" "CHM" "0000390286" "CHM" "0000390287" "CHM" "0000392396" "CHM" "0000392792" "CHM" "0000392793" "CHM" "0000392794" "CHM" "0000393844" "CHM" "0000393875" "CHM" "0000393921" "CHM" "0000394707" "CHM" "0000394708" "CHM" "0000394712" "CHM" "0000394713" "CHM" "0000394766" "CHM" "0000394787" "CHM" "0000394812" "CHM" "0000394833" "PCDH15" "0000394887" "CHM" "0000394892" "CHM" "0000394928" "CHM" "0000395070" "CHM" "0000395608" "CHM" "0000395609" "CHM" "0000396049" "CHM" "0000396050" "CHM" "0000396052" "CHM" "0000396053" "CHM" "0000396056" "CHM" "0000397099" "CHM" "0000397186" "CHM" "0000399601" "CHM" "0000399602" "CHM" "0000399603" "CHM" "0000399604" "CHM" "0000399605" "CHM" "0000399606" "CHM" "0000399607" "CHM" "0000399608" "CHM" "0000399609" "CHM" "0000399610" "CHM" "0000399611" "CHM" "0000399612" "CHM" "0000399613" "CHM" "0000399614" "CHM" "0000399615" "CHM" "0000399616" "CHM" "0000399617" "CHM" "0000399618" "CHM" "0000399619" "CHM" "0000399620" "CHM" "0000399621" "CHM" "0000399622" "CHM" "0000399623" "CHM" "0000399624" "CHM" "0000399625" "CHM" "0000399626" "CHM" "0000399627" "CHM" "0000399628" "CHM" "0000399629" "CHM" "0000399630" "CHM" "0000399631" "CHM" "0000399632" "CHM" "0000399633" "CHM" "0000399634" "CHM" "0000399635" "CHM" "0000399636" "CHM" "0000399637" "CHM" "0000399638" "CACNA2D4" "0000399638" "CHM" "0000399638" "NHLRC2" "0000399638" "USH2A" "0000399639" "CHM" "0000399640" "CHM" "0000399641" "CHM" "0000399642" "CHM" "0000399643" "CHM" "0000399644" "CHM" "0000399645" "CHM" "0000399646" "CHM" "0000399647" "CHM" "0000399648" "CHM" "0000399649" "CHM" "0000399650" "CHM" "0000399651" "CHM" "0000399652" "CHM" "0000399653" "CHM" "0000399654" "CHM" "0000399655" "CHM" "0000399656" "CHM" "0000399657" "CHM" "0000399658" "CHM" "0000399659" "CHM" "0000399660" "CHM" "0000399661" "CHM" "0000399662" "CHM" "0000399663" "CHM" "0000399664" "CHM" "0000399665" "CHM" "0000399666" "CHM" "0000399667" "CHM" "0000399668" "CHM" "0000399669" "CHM" "0000399670" "CHM" "0000399671" "CHM" "0000399672" "CHM" "0000399673" "CHM" "0000399674" "CHM" "0000399675" "CHM" "0000399676" "CHM" "0000399677" "CHM" "0000399678" "CHM" "0000399679" "CHM" "0000399680" "CHM" "0000399681" "CHM" "0000399682" "CHM" "0000399683" "CHM" "0000399684" "CHM" "0000399687" "CHM" "0000399688" "CHM" "0000399689" "CHM" "0000399690" "CHM" "0000399691" "CHM" "0000399692" "CHM" "0000399693" "CHM" "0000399694" "CHM" "0000399695" "CHM" "0000399696" "CHM" "0000399697" "CHM" "0000399698" "CHM" "0000399699" "CHM" "0000399700" "CHM" "0000399701" "CHM" "0000399702" "CHM" "0000399703" "CHM" "0000399704" "CHM" "0000399705" "CHM" "0000399706" "CHM" "0000399707" "CHM" "0000399708" "CHM" "0000399709" "CHM" "0000399710" "CHM" "0000399711" "CHM" "0000399712" "CHM" "0000399713" "CHM" "0000399714" "CHM" "0000399715" "CHM" "0000399716" "CHM" "0000399717" "CHM" "0000399718" "CHM" "0000408392" "CHM" "0000408393" "CHM" "0000408394" "CHM" "0000408395" "CHM" "0000408396" "CHM" "0000408397" "CHM" "0000408398" "CHM" "0000408399" "CHM" "0000408400" "CHM" "0000408401" "CHM" "0000408402" "CHM" "0000408403" "CHM" "0000408404" "CHM" "0000408405" "CHM" "0000408406" "CHM" "0000408407" "CHM" "0000408408" "CHM" "0000408409" "CHM" "0000408410" "CHM" "0000408411" "CHM" "0000408412" "CHM" "0000408413" "CHM" "0000408414" "CHM" "0000408415" "CHM" "0000408416" "CHM" "0000408417" "CHM" "0000408418" "CHM" "0000408419" "CHM" "0000408420" "CHM" "0000408421" "CHM" "0000408422" "CHM" "0000408423" "CHM" "0000408424" "CHM" "0000408425" "CHM" "0000408426" "CHM" "0000408427" "CHM" "0000408428" "CHM" "0000408429" "CHM" "0000408430" "CHM" "0000408431" "CHM" "0000408432" "CHM" "0000408433" "CHM" "0000408434" "CHM" "0000408435" "CHM" "0000408436" "CHM" "0000408437" "CHM" "0000408438" "CHM" "0000408439" "CHM" "0000408440" "CHM" "0000408441" "CHM" "0000408442" "CHM" "0000408443" "CHM" "0000408444" "CHM" "0000408445" "CHM" "0000408446" "CHM" "0000408447" "CHM" "0000408448" "CHM" "0000408449" "CHM" "0000408450" "CHM" "0000408451" "CHM" "0000408452" "CHM" "0000408453" "CHM" "0000408454" "CHM" "0000408455" "CHM" "0000408456" "CHM" "0000408457" "CHM" "0000408458" "CHM" "0000408459" "CHM" "0000408460" "CHM" "0000408461" "CHM" "0000408462" "CHM" "0000408463" "CHM" "0000408464" "CHM" "0000408465" "CHM" "0000408466" "CHM" "0000408467" "CHM" "0000408468" "CHM" "0000408469" "CHM" "0000408470" "CHM" "0000408471" "CHM" "0000415757" "CHM" "0000421796" "CHM" "0000421807" "CHM" "0000431082" "CHM" "0000431427" "CHM" "0000431539" "CHM" ## 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 = 1080 "{{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}}" "0000003082" "20" "50" "X" "85282283" "85282284" "ins" "0" "00037" "CHM_000465" "g.85282283_85282284insGAAAG" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86027279_86027280insGAAAG" "" "VUS" "" "0000007240" "20" "50" "X" "85282415" "85282415" "subst" "0" "00037" "CHM_000461" "g.85282415G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86027411G>A" "" "VUS" "" "0000009341" "20" "50" "X" "85282415" "85282415" "subst" "0" "00037" "CHM_000461" "g.85282415G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86027411G>A" "" "VUS" "" "0000011065" "20" "50" "X" "85282283" "85282284" "ins" "0" "00037" "CHM_000465" "g.85282283_85282284insGAAAG" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86027279_86027280insGAAAG" "" "VUS" "" "0000011066" "0" "50" "X" "85282775" "85282775" "del" "0" "00037" "CHM_000464" "g.85282775del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86027771del" "" "VUS" "" "0000247737" "0" "10" "X" "85155684" "85155684" "subst" "8.93767E-5" "02330" "CHM_000455" "g.85155684A>G" "" "" "" "CHM(NM_000390.4):c.1380T>C (p.D460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85900679A>G" "" "benign" "" "0000247747" "0" "10" "X" "85166258" "85166258" "subst" "0.000450438" "02330" "CHM_000412" "g.85166258A>T" "" "" "" "CHM(NM_000390.2):c.1244+8T>A (p.(=)), CHM(NM_000390.4):c.1244+8T>A, CHM(NM_001362517.1):c.800+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85911253A>T" "" "benign" "" "0000254538" "0" "30" "X" "85211316" "85211316" "subst" "4.48886E-5" "01943" "CHM_000414" "g.85211316A>G" "" "" "" "CHM(NM_000390.2):c.1008T>C (p.I336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85956311A>G" "" "likely benign" "" "0000266793" "0" "10" "X" "85219021" "85219021" "subst" "0.187713" "02325" "CHM_000417" "g.85219021T>C" "" "" "" "CHM(NM_000390.4):c.351A>G (p.A117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85964016T>C" "" "benign" "" "0000273534" "0" "50" "X" "85211224" "85211224" "subst" "0.000544164" "01943" "CHM_000413" "g.85211224C>A" "" "" "" "CHM(NM_000390.2):c.1100G>T (p.R367L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85956219C>A" "" "VUS" "" "0000273535" "0" "30" "X" "85236768" "85236768" "subst" "0.000174227" "01943" "CHM_000420" "g.85236768T>C" "" "" "" "CHM(NM_000390.2):c.162A>G (p.G54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85981764T>C" "" "likely benign" "" "0000273536" "0" "50" "X" "85128074" "85128074" "subst" "5.63917E-6" "01943" "CHM_000468" "g.85128074C>T" "" "" "" "CHM(NM_000390.2):c.1753G>A (p.D585N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85873069C>T" "" "VUS" "" "0000273537" "0" "90" "X" "85213886" "85213886" "subst" "0" "01943" "CHM_000416" "g.85213886G>A" "" "" "" "CHM(NM_000390.2):c.799C>T (p.R267*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000273538" "0" "30" "X" "85212975" "85212975" "subst" "0.000401359" "01943" "CHM_000415" "g.85212975C>T" "" "" "" "CHM(NM_000390.2):c.825G>A (p.P275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85957970C>T" "" "likely benign" "" "0000273539" "0" "30" "X" "85302529" "85302529" "subst" "0.000177234" "01943" "CHM_000427" "g.85302529T>C" "" "" "" "CHM(NM_000390.2):c.8A>G (p.D3G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86047525T>C" "" "likely benign" "" "0000334813" "0" "30" "X" "85119664" "85119675" "dup" "0" "01804" "CHM_000467" "g.85119664_85119675dup" "" "" "" "CHM(NM_000390.2):c.1933_1934insAAAGCACAAACC (p.(Asn644_Leu645insGlnSerThrAsn)), CHM(NM_000390.4):c.1922_1933dupAAAGCACAAACC (p.N644_L645insQSTN)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85864659_85864670dup" "" "likely benign" "" "0000334814" "0" "50" "X" "85156087" "85156089" "dup" "0" "01804" "CHM_000456" "g.85156087_85156089dup" "" "" "" "CHM(NM_000390.2):c.1349+2_1349+3insGGT (p.?), CHM(NM_001362517.1):c.905+2_905+3insACC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85901082_85901084dup" "" "VUS" "" "0000334815" "0" "30" "X" "85166258" "85166258" "subst" "0.000450438" "01804" "CHM_000412" "g.85166258A>T" "" "" "" "CHM(NM_000390.2):c.1244+8T>A (p.(=)), CHM(NM_000390.4):c.1244+8T>A, CHM(NM_001362517.1):c.800+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85911253A>T" "" "likely benign" "" "0000334816" "0" "30" "X" "85233847" "85233847" "subst" "0.00258011" "01804" "CHM_000418" "g.85233847G>A" "" "" "" "CHM(NM_000390.2):c.238C>T (p.(Leu80Phe)), CHM(NM_000390.4):c.238C>T (p.L80F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85978843G>A" "" "likely benign" "" "0000338821" "0" "90" "X" "85211384" "85211384" "subst" "0" "02327" "CHM_000432" "g.85211384C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85956379C>T" "" "pathogenic" "" "0000338822" "0" "90" "X" "85219058" "85219058" "subst" "0" "02327" "CHM_000445" "g.85219058C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85964053C>G" "" "pathogenic" "" "0000338823" "0" "90" "X" "85233897" "85233897" "subst" "0" "02327" "CHM_000447" "g.85233897T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85978893T>C" "" "pathogenic" "" "0000338824" "0" "90" "X" "85282494" "85282494" "subst" "0" "02327" "CHM_000448" "g.85282494C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86027490C>T" "" "pathogenic" "" "0000340492" "0" "30" "X" "85213965" "85213965" "subst" "0" "02327" "CHM_000453" "g.85213965T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85958960T>A" "" "likely benign" "" "0000340493" "0" "10" "X" "85219021" "85219021" "subst" "0.187713" "02327" "CHM_000417" "g.85219021T>C" "" "" "" "CHM(NM_000390.4):c.351A>G (p.A117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85964016T>C" "" "benign" "" "0000342478" "0" "90" "X" "85213886" "85213886" "subst" "0" "02327" "CHM_000416" "g.85213886G>A" "" "" "" "CHM(NM_000390.2):c.799C>T (p.R267*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000342493" "0" "90" "X" "85213877" "85213877" "subst" "0" "02327" "CHM_000436" "g.85213877G>A" "" "" "" "CHM(NM_001362517.1):c.364C>T (p.R122*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85958872G>A" "" "pathogenic" "" "0000344490" "0" "90" "X" "85219056" "85219056" "subst" "0" "02327" "CHM_000444" "g.85219056G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85964051G>A" "" "pathogenic" "" "0000345183" "0" "90" "X" "85218855" "85218855" "subst" "0" "02327" "CHM_000441" "g.85218855C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85963850C>A" "" "pathogenic" "" "0000345192" "0" "90" "X" "85218837" "85218837" "subst" "0" "02327" "CHM_000439" "g.85218837C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85963832C>A" "" "pathogenic" "" "0000348847" "0" "90" "X" "85218674" "85218674" "subst" "0" "02327" "CHM_000454" "g.85218674G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85963669G>T" "" "pathogenic" "" "0000349849" "0" "90" "X" "85233861" "85233861" "subst" "0" "02327" "CHM_000446" "g.85233861C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85978857C>T" "" "pathogenic" "" "0000350139" "0" "90" "X" "85128132" "85128132" "subst" "0" "02327" "CHM_000428" "g.85128132A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85873127A>T" "" "pathogenic" "" "0000351388" "0" "10" "X" "85212840" "85212840" "subst" "0.0112087" "02327" "CHM_000433" "g.85212840C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85957835C>G" "" "benign" "" "0000351389" "0" "90" "X" "85212858" "85212858" "subst" "0" "02327" "CHM_000434" "g.85212858A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85957853A>G" "" "pathogenic" "" "0000351390" "0" "90" "X" "85212982" "85212982" "subst" "0" "02327" "CHM_000435" "g.85212982T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85957977T>C" "" "pathogenic" "" "0000369374" "0" "99" "X" "85302626" "85302626" "subst" "0" "00110" "CHM_000450" "g.85302626G>C" "" "{PMID:Vaché 2019:30341801}" "" "c.-90C>G" "No transcript observed in patient\'s fibroblasts culture" "Germline/De novo (untested)" "" "" "0" "" "" "g.86047622G>C" "" "pathogenic" "ACMG" "0000369375" "0" "77" "X" "85302644" "85302644" "subst" "0" "00110" "CHM_000451" "g.85302644T>C" "" "{PMID:Vaché 2019:30341801}" "" "c.-108A>G" "Alteration of transcription observed in a luciferase reporter assay" "Germline/De novo (untested)" "" "" "0" "" "" "g.86047640T>C" "" "likely pathogenic" "" "0000369376" "20" "99" "X" "85212915" "85212916" "ins" "0" "00110" "CHM_000452" "g.85212915_85212916ins[AluYa5,85212902_85212916]" "" "{PMID:Vaché 2019:30341801}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.85957910_85957911ins[AluYa5,85957897_85957911]" "" "pathogenic" "" "0000377691" "1" "55" "X" "85211224" "85211224" "subst" "0.00102662" "00124" "CHM_000001" "g.85211224C>T" "" "{PMID:Tarpey 2009:19377476}; USMA-{MSV3dP24386p.Arg367Gln:}" "-AciI" "1130G>A" "hemizygous; found once, nonrecurrent change" "Germline" "" "rs76191025" "0" "" "" "g.85956219C>T" "" "VUS" "" "0000377692" "1" "11" "X" "85233820" "85233820" "subst" "0.0137678" "00124" "CHM_000003" "g.85233820T>A" "" "{PMID:Tarpey 2009:19377476}; USMA-{MSV3dP24386p.Ser89Cys:}" "+HpyCH4V;-DdeI;" "295C>T" "hemizygous; recurrent, found 5 times" "Germline" "" "rs145707160" "0" "" "" "g.85978816T>A" "" "benign" "" "0000377693" "1" "11" "X" "85233820" "85233820" "subst" "0.0137678" "02416" "CHM_000003" "g.85233820T>A" "" "{PMID:Neveling 2012:22334370}; USMA-{MSV3dP24386p.Ser89Cys:}" "+HpyCH4V;-DdeI;" "295C>T" "hemizygous" "Germline" "" "rs145707160" "0" "" "" "g.85978816T>A" "" "benign" "" "0000377694" "0" "11" "X" "85233820" "85233820" "subst" "0.0137678" "02416" "CHM_000003" "g.85233820T>A" "" "{PMID:Neveling 2012:22334370}; USMA-{MSV3dP24386p.Ser89Cys:}" "+HpyCH4V;-DdeI;" "295C>T" "hemizygous" "Germline" "" "rs145707160" "0" "" "" "g.85978816T>A" "" "benign" "" "0000377695" "0" "11" "X" "85233820" "85233820" "subst" "0.0137678" "02416" "CHM_000003" "g.85233820T>A" "" "{PMID:Neveling 2012:22334370}; USMA-{MSV3dP24386p.Ser89Cys:}" "+HpyCH4V;-DdeI;" "295C>T" "hemizygous" "Germline" "" "rs145707160" "0" "" "" "g.85978816T>A" "" "benign" "" "0000377696" "21" "11" "X" "85233820" "85233820" "subst" "0.0137678" "02416" "CHM_000003" "g.85233820T>A" "" "{PMID:Neveling 2012:22334370}; USMA-{MSV3dP24386p.Ser89Cys:}" "+HpyCH4V;-DdeI;" "295C>T" "hemizygous" "Germline" "" "rs145707160" "0" "" "" "g.85978816T>A" "" "benign" "" "0000377697" "1" "11" "X" "85233820" "85233820" "subst" "0.0137678" "02416" "CHM_000003" "g.85233820T>A" "" "{PMID:Neveling 2012:22334370}; USMA-{MSV3dP24386p.Ser89Cys:}" "+HpyCH4V;-DdeI;" "295C>T" "heterozygous" "Germline" "" "rs145707160" "0" "" "" "g.85978816T>A" "" "benign" "" "0000377698" "20" "11" "X" "85233820" "85233820" "subst" "0.0137678" "02416" "CHM_000003" "g.85233820T>A" "" "{PMID:Neveling 2012:22334370}; USMA-{MSV3dP24386p.Ser89Cys:}" "+HpyCH4V;-DdeI;" "295C>T" "hemizygous" "Germline" "" "rs145707160" "0" "" "" "g.85978816T>A" "" "benign" "" "0000377699" "1" "11" "X" "85219021" "85219021" "subst" "0.187713" "00124" "CHM_000004" "g.85219021T>C" "" "{PMID:Tarpey 2009:19377476}" "" "381A>G" "hemizygous; recurrent, found 28 times - A117A" "Germline" "" "rs10217950" "0" "" "" "g.85964016T>C" "" "benign" "" "0000377700" "21" "11" "X" "85219021" "85219021" "subst" "0.187713" "02416" "CHM_000004" "g.85219021T>C" "" "{PMID:Esposito 2011:21905166}" "" "381A>G" "hemizygous; neutral polymorphism" "Germline" "" "rs10217950" "0" "" "" "g.85964016T>C" "" "benign" "" "0000377702" "20" "99" "X" "85302522" "85302522" "del" "0" "00110" "CHM_000005" "g.85302522del" "" "{PMID:Mc Taggart 2002:12203991}" "" "47delC" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.86047518del" "" "pathogenic" "" "0000377703" "20" "99" "X" "85302487" "85302487" "subst" "0" "00110" "CHM_000006" "g.85302487C>T" "" "{PMID:Mc Taggart 2002:12203991}" "" "79+1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.86047483C>T" "" "pathogenic" "" "0000377704" "20" "99" "X" "85302483" "85302483" "subst" "0" "00110" "CHM_000007" "g.85302483C>A" "" "{PMID:van den Hurk 2003:12827496}" "" "79+5G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.86047479C>A" "" "pathogenic" "" "0000377705" "0" "99" "X" "85302483" "85302483" "subst" "0" "00110" "CHM_000007" "g.85302483C>A" "" "{PMID:Aleman TS 2017:27986385}" "" "79+5G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.86047479C>A" "" "pathogenic" "" "0000377706" "20" "99" "X" "85282562" "85282562" "subst" "0" "00110" "CHM_000008" "g.85282562C>G" "" "{PMID:Fujiki 1999:10447648}" "" "80-1G>C" "hemizygous" "Germline" "" "" "0" "" "" "g.86027558C>G" "" "pathogenic" "" "0000377707" "0" "99" "X" "85282562" "85282562" "subst" "0" "00110" "CHM_000008" "g.85282562C>G" "" "{PMID:Fujiki 1999:10447648}" "" "80-1G>C" "hemizygous" "Germline" "" "" "0" "" "" "g.86027558C>G" "" "pathogenic" "" "0000377708" "20" "99" "X" "85282494" "85282494" "subst" "0" "00110" "CHM_000009" "g.85282494C>T" "" "{PMID:Fujiki 1999:10447648}" "" "146+1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.86027490C>T" "" "pathogenic" "" "0000377709" "20" "99" "X" "85282494" "85282494" "subst" "0" "00110" "CHM_000009" "g.85282494C>T" "" "{PMID:Mc Taggart 2002:12203991}" "" "146+1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.86027490C>T" "" "pathogenic" "" "0000377710" "20" "99" "X" "85282494" "85282494" "subst" "0" "00110" "CHM_000009" "g.85282494C>T" "" "{PMID:van den Hurk 2003:12827496}" "" "146+1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.86027490C>T" "" "pathogenic" "" "0000377711" "0" "99" "X" "85282494" "85282494" "subst" "0" "00110" "CHM_000009" "g.85282494C>T" "" "{PMID:Aleman TS 2017:27986385}" "" "146+1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.86027490C>T" "" "pathogenic" "" "0000377712" "20" "99" "X" "85236800" "85236800" "subst" "0" "00110" "CHM_000010" "g.85236800C>A" "" "{PMID:Mc Taggart 2002:12203991}" "" "160G>T" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85981796C>A" "" "pathogenic" "" "0000377713" "0" "99" "X" "85236790" "85236790" "subst" "0" "00110" "CHM_000011" "g.85236790C>T" "" "{PMID:Fujiki 1999:10447648}" "+BfaI;-Sau96I" "170G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85981786C>T" "" "pathogenic" "" "0000377714" "20" "99" "X" "85236740" "85236740" "subst" "0" "00110" "CHM_000012" "g.85236740C>T" "" "{PMID:van den Hurk 2003:12827496}" "" "219+1G>A" "hemizygous; Mutation mRNA level : Skipping exon 3" "Germline" "" "" "0" "" "" "g.85981736C>T" "" "pathogenic" "" "0000377715" "0" "99" "X" "85236740" "85236740" "subst" "0" "00110" "CHM_000012" "g.85236740C>T" "" "{PMID:Garcia-Hoyos 2008:18385043}" "" "219+1G>A" "hemizygous; Mutation mRNA level : Skipping exon 3" "Germline" "" "" "0" "" "" "g.85981736C>T" "" "pathogenic" "" "0000377716" "0" "55" "X" "85233909" "85233909" "subst" "0" "00110" "CHM_000013" "g.85233909A>C" "" "{PMID:van Bokhoven 1994:7981671}" "" "220-14T>G" "hemizygous; The pathogenicity of this mutation is uncertain as RT-PCR did not give abnormal mRNA." "Germline" "" "" "0" "" "" "g.85978905A>C" "" "VUS" "" "0000377717" "20" "99" "X" "85233897" "85233897" "subst" "0" "00110" "CHM_000014" "g.85233897T>C" "" "{PMID:van den Hurk 2003:12827496}" "none" "220-2A>G" "hemizygous; Activation of a cryptic splice acceptor site within exon 4 causes the deletion of the first eight nucleotides of exon 4" "Germline" "" "" "0" "" "" "g.85978893T>C" "" "pathogenic" "" "0000377718" "20" "99" "X" "85233859" "85233859" "subst" "0" "00110" "CHM_000015" "g.85233859G>A" "" "{PMID:Villaverde 2007:17879444}" "" "256C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85978855G>A" "" "pathogenic" "" "0000377719" "20" "99" "X" "85233792" "85233792" "del" "0" "00110" "CHM_000016" "g.85233792del" "" "{PMID:Beaufrère 1997:9441709}" "-Afl III" "323delT" "hemizygous" "Germline" "" "" "0" "" "" "g.85978788del" "" "pathogenic" "" "0000377720" "0" "99" "X" "85233776" "85233776" "subst" "0" "00110" "CHM_000017" "g.85233776A>C" "" "{PMID:Villaverde 2007:17879444}" "+HaeIII" "339T>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85978772A>C" "" "pathogenic" "" "0000377721" "20" "99" "X" "85219056" "85219059" "del" "0" "00110" "CHM_000018" "g.85219056_85219059del" "" "{PMID:Fujiki 1999:10447648}" "-BsrI" "345_348del" "hemizygous" "Germline" "" "" "0" "" "" "g.85964051_85964054del" "" "pathogenic" "" "0000377722" "0" "99" "X" "85219056" "85219059" "del" "0" "00110" "CHM_000018" "g.85219056_85219059del" "" "{PMID:Mc Taggart 2002:12203991}" "-BsrI" "345_348del" "hemizygous" "Germline" "" "" "0" "" "" "g.85964051_85964054del" "" "pathogenic" "" "0000377723" "21" "99" "X" "85219056" "85219059" "del" "0" "02420" "CHM_000018" "g.85219056_85219059del" "" "{PMID:Esposito 2011:21905166}" "-BsrI" "345_348del" "hemizygous; Characterized at mRNA level" "Germline" "" "" "0" "" "" "g.85964051_85964054del" "" "pathogenic" "" "0000377724" "0" "99" "X" "85219056" "85219059" "del" "0" "00110" "CHM_000018" "g.85219056_85219059del" "" "{PMID:Aleman TS 2017:27986385}" "-BsrI" "345_348del" "hemizygous" "Germline" "" "" "0" "" "" "g.85964051_85964054del" "" "pathogenic" "" "0000377725" "20" "99" "X" "85223644" "85223644" "subst" "0" "00110" "CHM_000019" "g.85223644A>T" "" "{PMID:van den Hurk 2003:12827496}" "" "345-4587T>A" "hemizygous; Creation of a novel 3\' splice site in intron 4 and causes the inclusion of 98 bp of intronic sequence into the CHM transcript. This cryptic exon contains a termination codon. Described as c.314+10127T>A" "Germline" "" "" "0" "" "" "g.85968639A>T" "" "pathogenic" "" "0000377726" "20" "99" "X" "85223644" "85223644" "subst" "0" "00110" "CHM_000019" "g.85223644A>T" "" "{PMID:van den Hurk 2003:12827496}" "" "345-4587T>A" "hemizygous; Creation of a novel 3\' splice site in intron 4 and causes the inclusion of 98 bp of intronic sequence into the CHM transcript. This cryptic exon contains a termination codon. Described as c.314+10127T>A" "Germline" "" "" "0" "" "" "g.85968639A>T" "" "pathogenic" "" "0000377727" "20" "75" "X" "85219056" "85219056" "subst" "0" "00110" "CHM_000020" "g.85219056G>A" "" "{PMID:Nesslinger 1996:8832720}" "-Hpy188III" "346C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85964051G>A" "" "likely pathogenic" "" "0000377728" "20" "99" "X" "85219001" "85219001" "del" "0" "00110" "CHM_000021" "g.85219001del" "" "{PMID:Itabashi 2004:15579993}" "" "402delT" "hemizygous" "Germline" "" "" "0" "" "" "g.85963996del" "" "pathogenic" "" "0000377729" "0" "99" "X" "85218846" "85218847" "del" "0" "00110" "CHM_000022" "g.85218846_85218847del" "" "{PMID:Mc Taggart 2002:12203991}" "none" "555_556del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963841_85963842del" "" "pathogenic" "" "0000377730" "0" "99" "X" "85218846" "85218847" "del" "0" "00110" "CHM_000022" "g.85218846_85218847del" "" "{PMID:Mc Taggart 2002:12203991}" "none" "555_556del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963841_85963842del" "" "pathogenic" "" "0000377731" "0" "99" "X" "85218846" "85218847" "del" "0" "00110" "CHM_000022" "g.85218846_85218847del" "" "{PMID:Mc Taggart 2002:12203991}" "none" "555_556del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963841_85963842del" "" "pathogenic" "" "0000377732" "20" "99" "X" "85218846" "85218847" "del" "0" "00110" "CHM_000022" "g.85218846_85218847del" "" "{PMID:Itabashi 2004:15579993}" "none" "555_556del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963841_85963842del" "" "pathogenic" "" "0000377733" "20" "99" "X" "85218846" "85218847" "del" "0" "00110" "CHM_000022" "g.85218846_85218847del" "" "{PMID:Garcia-Hoyos 2008:18385043}" "none" "555_556del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963841_85963842del" "" "pathogenic" "" "0000377734" "20" "99" "X" "85218846" "85218847" "del" "0" "02416" "CHM_000022" "g.85218846_85218847del" "" "{PMID:Sergeev 2009:19427510}" "none" "555_556del" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85963841_85963842del" "" "pathogenic" "" "0000377735" "21" "99" "X" "85218846" "85218847" "del" "0" "02420" "CHM_000022" "g.85218846_85218847del" "" "{PMID:Esposito 2011:21905166}" "none" "555_556del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963841_85963842del" "" "pathogenic" "" "0000377736" "20" "99" "X" "85218846" "85218847" "del" "0" "00110" "CHM_000022" "g.85218846_85218847del" "" "{PMID:van Bokhoven 1994:7981671}" "none" "555_556del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963841_85963842del" "" "pathogenic" "" "0000377737" "20" "99" "X" "85218843" "85218843" "subst" "0" "00110" "CHM_000023" "g.85218843C>A" "" "{PMID:Beaufrère 1997:9441709}" "" "559G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85963838C>A" "" "pathogenic" "" "0000377738" "20" "99" "X" "85218846" "85218846" "del" "0" "00110" "CHM_000024" "g.85218846del" "" "{PMID:Mc Taggart 2002:12203991}" "" "559del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963841del" "" "pathogenic" "" "0000377739" "20" "99" "X" "85218815" "85218823" "delins" "0" "00110" "CHM_000025" "g.85218815_85218823delinsAGAAAACT" "" "{PMID:Mc Taggart 2002:12203991}" "" "579_587delinsAGTTTTCT" "hemizygous" "Germline" "" "" "0" "" "" "g.85963810_85963818delinsAGAAAACT" "" "pathogenic" "" "0000377740" "20" "99" "X" "85218812" "85218813" "del" "0" "00110" "CHM_000026" "g.85218812_85218813del" "" "{PMID:Mc Donald 2004:15225095}" "" "593_594del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963807_85963808del" "" "pathogenic" "" "0000377741" "20" "99" "X" "85218807" "85218808" "del" "0" "00110" "CHM_000027" "g.85218807_85218808del" "" "{PMID:Fujiki 1999:10447648}" "-BccI" "594_595del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963802_85963803del" "" "pathogenic" "" "0000377742" "20" "99" "X" "85218803" "85218803" "subst" "0" "00110" "CHM_000028" "g.85218803G>C" "" "{PMID:Mc Taggart 2002:12203991}" "" "599C>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85963798G>C" "" "pathogenic" "" "0000377743" "20" "99" "X" "85218791" "85218791" "dup" "0" "00110" "CHM_000029" "g.85218791dup" "" "{PMID:van Bokhoven 1994:7981671}" "" "612dup" "hemizygous" "Germline" "" "" "0" "" "" "g.85963786dup" "" "pathogenic" "" "0000377744" "20" "99" "X" "85218747" "85218747" "subst" "0" "00110" "CHM_000030" "g.85218747G>A" "" "{PMID:Fujiki 1999:10447648}" "+ MaeIII" "655C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85963742G>A" "" "pathogenic" "" "0000377745" "20" "99" "X" "85218746" "85218746" "dup" "0" "00110" "CHM_000031" "g.85218746dup" "" "{PMID:Yip 2007:18087237}" "" "657dup" "hemizygous" "Germline" "" "" "0" "" "" "g.85963741dup" "" "pathogenic" "" "0000377746" "20" "99" "X" "85218731" "85218732" "del" "0" "00110" "CHM_000032" "g.85218731_85218732del" "" "{PMID:Garcia-Hoyos 2008:18385043}" "" "671_672del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963726_85963727del" "" "pathogenic" "" "0000377747" "20" "99" "X" "85218725" "85218728" "del" "0" "00110" "CHM_000033" "g.85218725_85218728del" "" "{PMID:van den Hurk 2003:12827496}" "" "679_682delTACT" "hemizygous" "Germline" "" "" "0" "" "" "g.85963720_85963723del" "" "pathogenic" "" "0000377748" "20" "99" "X" "85218719" "85218722" "del" "0" "00110" "CHM_000034" "g.85218719_85218722del" "" "{PMID:Mc Taggart 2002:12203991}" "" "682_685del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963714_85963717del" "" "pathogenic" "" "0000377749" "0" "99" "X" "85218719" "85218722" "del" "0" "00110" "CHM_000034" "g.85218719_85218722del" "" "{PMID:Mc Taggart 2002:12203991}" "" "682_685del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963714_85963717del" "" "pathogenic" "" "0000377750" "0" "99" "X" "85218719" "85218722" "del" "0" "00110" "CHM_000034" "g.85218719_85218722del" "" "{PMID:Yip 2007:18087237}" "" "682_685del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963714_85963717del" "" "pathogenic" "" "0000377751" "21" "99" "X" "85218719" "85218722" "del" "0" "02420" "CHM_000034" "g.85218719_85218722del" "" "{PMID:Esposito 2011:21905166}" "" "682_685del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963714_85963717del" "" "pathogenic" "" "0000377752" "20" "99" "X" "85213983" "85213983" "subst" "0" "00110" "CHM_000035" "g.85213983C>G" "" "{PMID:Yip 2007:18087237}" "" "733-1G>C" "hemizygous" "Germline" "" "" "0" "" "" "g.85958978C>G" "" "pathogenic" "" "0000377753" "0" "99" "X" "85213947" "85213948" "ins" "0" "00110" "CHM_000036" "g.85213947_85213948ins[85213948_85213961;(6000)]" "" "{PMID:Van den Hurk 2003:12827496}" "" "L1 insertion" "hemizygous; insertion of an L1 retrotransposon (~6Kb) in exon 6 in reverse orientation (flanked by a perfect 14bp duplication of the target site) leads to inframe exon 6 deletion." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377754" "20" "99" "X" "85213970" "85213970" "subst" "5.61126E-6" "00110" "CHM_000037" "g.85213970G>A" "" "{PMID:Mc Taggart 2002:12203991}" "-TaqI ; -XhoI" "745C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958965G>A" "" "pathogenic" "" "0000377755" "20" "99" "X" "85213970" "85213970" "subst" "5.61126E-6" "00110" "CHM_000037" "g.85213970G>A" "" "{PMID:van den Hurk 2003:12827496}" "-TaqI ; -XhoI" "745C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958965G>A" "" "pathogenic" "" "0000377756" "20" "99" "X" "85213970" "85213970" "subst" "5.61126E-6" "00110" "CHM_000037" "g.85213970G>A" "" "{PMID:Garcia-Hoyos 2008:18385043}" "-TaqI ; -XhoI" "745C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958965G>A" "" "pathogenic" "" "0000377757" "0" "99" "X" "85213970" "85213970" "subst" "5.61126E-6" "00110" "CHM_000037" "g.85213970G>A" "" "{PMID:Aleman TS 2017:27986385}" "-TaqI ; -XhoI" "745C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958965G>A" "" "pathogenic" "" "0000377758" "20" "99" "X" "85213958" "85213959" "delins" "0" "00110" "CHM_000038" "g.85213958_85213959delinsA" "" "{PMID:Mc Taggart 2002:12203991}" "" "756_757delinsT" "hemizygous" "Germline" "" "" "0" "" "" "g.85958953_85958954delinsA" "" "pathogenic" "" "0000377759" "20" "99" "X" "85213937" "85213937" "del" "0" "00110" "CHM_000039" "g.85213937del" "" "{PMID:van den Hurk 1997:9067750}" "" "779delA" "hemizygous" "Germline" "" "" "0" "" "" "g.85958932del" "" "pathogenic" "" "0000377760" "20" "99" "X" "85213928" "85213928" "subst" "0" "00110" "CHM_000040" "g.85213928G>A" "" "{PMID:Fujiki 1999:10447648}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377761" "20" "99" "X" "85213928" "85213928" "subst" "0" "00110" "CHM_000040" "g.85213928G>A" "" "{PMID:Mc Taggart 2002:12203991}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377762" "0" "99" "X" "85213928" "85213928" "subst" "0" "00110" "CHM_000040" "g.85213928G>A" "" "{PMID:Mc Taggart 2002:12203991}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377763" "20" "99" "X" "85213928" "85213928" "subst" "0" "00110" "CHM_000040" "g.85213928G>A" "" "{PMID:Mc Taggart 2002:12203991}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377764" "20" "99" "X" "85213928" "85213928" "subst" "0" "00110" "CHM_000040" "g.85213928G>A" "" "{PMID:Mc Taggart 2002:12203991}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377765" "20" "99" "X" "85213928" "85213928" "subst" "0" "00110" "CHM_000040" "g.85213928G>A" "" "{PMID:Mc Taggart 2002:12203991}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377766" "20" "99" "X" "85213928" "85213928" "subst" "0" "00110" "CHM_000040" "g.85213928G>A" "" "{PMID:Mc Taggart 2002:12203991}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377767" "20" "99" "X" "85213928" "85213928" "subst" "0" "00110" "CHM_000040" "g.85213928G>A" "" "{PMID:Mc Taggart 2002:12203991}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377768" "20" "99" "X" "85213928" "85213928" "subst" "0" "00110" "CHM_000040" "g.85213928G>A" "" "{PMID:Mc Taggart 2002:12203991}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377769" "20" "99" "X" "85213928" "85213928" "subst" "0" "00110" "CHM_000040" "g.85213928G>A" "" "{PMID:van den Hurk 2003:12827496}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377770" "20" "99" "X" "85213928" "85213928" "subst" "0" "00110" "CHM_000040" "g.85213928G>A" "" "{PMID:Francis 2005:16087855}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377771" "21" "99" "X" "85213928" "85213928" "subst" "0" "02416" "CHM_000040" "g.85213928G>A" "" "{PMID:McDonald 2009:19422966}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377772" "21" "99" "X" "85213928" "85213928" "subst" "0" "02416" "CHM_000040" "g.85213928G>A" "" "{PMID:McDonald 2009:19422966}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377773" "21" "99" "X" "85213928" "85213928" "subst" "0" "02420" "CHM_000040" "g.85213928G>A" "" "{PMID:Esposito 2011:21905166}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377774" "0" "99" "X" "85213928" "85213928" "subst" "0" "00110" "CHM_000040" "g.85213928G>A" "" "{PMID:Aleman TS 2017:27986385}" "-TaqI" "787C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000377775" "20" "99" "X" "85213917" "85213917" "del" "0" "00110" "CHM_000041" "g.85213917del" "" "{PMID:Mc Taggart 2002:12203991}" "" "798del" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85958912del" "" "pathogenic" "" "0000377776" "20" "99" "X" "85213923" "85213923" "subst" "0" "00110" "CHM_000042" "g.85213923A>C" "" "" "" "792T>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85958918A>C" "" "pathogenic" "" "0000377777" "20" "99" "X" "85213886" "85213886" "subst" "0" "00110" "CHM_000043" "g.85213886G>A" "" "{PMID:Fujiki 1999:10447648}" "- TaqI" "829C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000377778" "20" "99" "X" "85213886" "85213886" "subst" "0" "00110" "CHM_000043" "g.85213886G>A" "" "{PMID:Fujiki 1999:10447648}" "- TaqI" "829C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000377779" "20" "99" "X" "85213886" "85213886" "subst" "0" "00110" "CHM_000043" "g.85213886G>A" "" "{PMID:Fujiki 1999:10447648}" "- TaqI" "829C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000377780" "20" "99" "X" "85213886" "85213886" "subst" "0" "00110" "CHM_000043" "g.85213886G>A" "" "{PMID:Mc Taggart 2002:12203991}" "- TaqI" "829C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000377781" "20" "99" "X" "85213886" "85213886" "subst" "0" "00110" "CHM_000043" "g.85213886G>A" "" "{PMID:Mc Taggart 2002:12203991}" "- TaqI" "829C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000377782" "20" "99" "X" "85213886" "85213886" "subst" "0" "00110" "CHM_000043" "g.85213886G>A" "" "{PMID:Mc Taggart 2002:12203991}" "- TaqI" "829C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000377783" "21" "99" "X" "85213886" "85213886" "subst" "0" "02420" "CHM_000043" "g.85213886G>A" "" "{PMID:Esposito 2011:21905166}" "- TaqI" "829C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000377784" "0" "99" "X" "85213886" "85213886" "subst" "0" "00110" "CHM_000043" "g.85213886G>A" "" "{PMID:Aleman TS 2017:27986385}" "- TaqI" "829C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000377785" "0" "99" "X" "85213886" "85213886" "subst" "0" "00110" "CHM_000043" "g.85213886G>A" "" "{PMID:Aleman TS 2017:27986385}" "- TaqI" "829C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000377786" "0" "99" "X" "85213886" "85213886" "subst" "0" "00110" "CHM_000043" "g.85213886G>A" "" "{PMID:Zhu L 2017:28098911}" "- TaqI" "829C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000377787" "20" "99" "X" "85213886" "85213886" "subst" "0" "00110" "CHM_000043" "g.85213886G>A" "" "{PMID:van den Hurk 1997:9067750}" "- TaqI" "829C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000377788" "20" "99" "X" "85213886" "85213886" "subst" "0" "00110" "CHM_000043" "g.85213886G>A" "" "{PMID:Beaufrère 1997:9441709}" "- TaqI" "829C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000377789" "20" "99" "X" "85213877" "85213877" "subst" "0" "00110" "CHM_000044" "g.85213877G>A" "" "{PMID:Fujiki 1999:10447648}" "+BtsCI;+FokI;" "838C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958872G>A" "" "pathogenic" "" "0000377790" "20" "99" "X" "85213877" "85213877" "subst" "0" "00110" "CHM_000044" "g.85213877G>A" "" "{PMID:Fujiki 1999:10447648}" "+BtsCI;+FokI;" "838C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958872G>A" "" "pathogenic" "" "0000377791" "20" "99" "X" "85213877" "85213877" "subst" "0" "00110" "CHM_000044" "g.85213877G>A" "" "{PMID:van den Hurk 2003:12827496}" "+BtsCI;+FokI;" "838C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958872G>A" "" "pathogenic" "" "0000377792" "21" "99" "X" "85213877" "85213877" "subst" "0" "02416" "CHM_000044" "g.85213877G>A" "" "{PMID:Perez-cano 2009:19764077}" "+BtsCI;+FokI;" "" "hemizygous" "Germline" "" "" "0" "" "" "g.85958872G>A" "" "pathogenic" "" "0000377793" "21" "99" "X" "85213877" "85213877" "subst" "0" "02416" "CHM_000044" "g.85213877G>A" "" "{PMID:Perez-cano 2009:19764077}" "+BtsCI;+FokI;" "838C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958872G>A" "" "pathogenic" "" "0000377794" "21" "99" "X" "85213877" "85213877" "subst" "0" "02416" "CHM_000044" "g.85213877G>A" "" "{PMID:Perez-cano 2009:19764077}" "+BtsCI;+FokI;" "838C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958872G>A" "" "pathogenic" "" "0000377795" "0" "99" "X" "85213877" "85213877" "subst" "0" "02416" "CHM_000044" "g.85213877G>A" "" "{PMID:Perez-cano 2009:19764077}" "+BtsCI;+FokI;" "838C>T" "heterozygous" "Germline" "" "" "0" "" "" "g.85958872G>A" "" "pathogenic" "" "0000377796" "0" "99" "X" "85213877" "85213877" "subst" "0" "00110" "CHM_000044" "g.85213877G>A" "" "{PMID:Aleman TS 2017:27986385}" "+BtsCI;+FokI;" "838C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958872G>A" "" "pathogenic" "" "0000377797" "20" "99" "X" "85213871" "85213871" "subst" "0" "00110" "CHM_000045" "g.85213871C>A" "" "{PMID:van den Hurk 2003:12827496}" "" "844G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958866C>A" "" "pathogenic" "" "0000377798" "20" "55" "X" "85212988" "85212988" "subst" "0" "00110" "CHM_000046" "g.85212988A>C" "" "{PMID:van den Hurk 2003:12827496}" "" "850-8T>G" "hemizygous; No mRNA was available to examine the effect of this sequence alteration on splicing" "Germline" "" "" "0" "" "" "g.85957983A>C" "" "VUS" "" "0000377799" "10" "99" "X" "85212981" "85212981" "subst" "0" "00110" "CHM_000047" "g.85212981C>G" "" "{PMID:Potter 2004:15465555}" "" "850-1G>C" "hemizygous; RT-PCR showed skipping of exon 7." "Germline" "" "" "0" "" "" "g.85957976C>G" "" "pathogenic" "" "0000377800" "0" "99" "X" "85212981" "85212981" "subst" "0" "00110" "CHM_000047" "g.85212981C>G" "" "{PMID:Battu R 2016:28112135}" "" "850-1G>C" "hemizygous" "Germline" "" "" "0" "" "" "g.85957976C>G" "" "pathogenic" "" "0000377801" "20" "99" "X" "85212923" "85212923" "subst" "0" "00110" "CHM_000048" "g.85212923G>A" "" "{PMID:van den Hurk 2003:12827496}" "" "907C>T" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85957918G>A" "" "pathogenic" "" "0000377802" "20" "99" "X" "85212923" "85212923" "subst" "0" "00110" "CHM_000048" "g.85212923G>A" "" "{PMID:van den Hurk 2003:12827496}" "" "907C>T" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85957918G>A" "" "pathogenic" "" "0000377803" "20" "99" "X" "85212923" "85212923" "subst" "0" "00110" "CHM_000048" "g.85212923G>A" "" "{PMID:van den Hurk 2003:12827496}" "" "907C>T" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85957918G>A" "" "pathogenic" "" "0000377804" "20" "99" "X" "85212923" "85212923" "subst" "0" "00110" "CHM_000048" "g.85212923G>A" "" "{PMID:van den Hurk 2003:12827496}" "" "907C>T" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85957918G>A" "" "pathogenic" "" "0000377805" "20" "99" "X" "85212923" "85212923" "subst" "0" "00110" "CHM_000048" "g.85212923G>A" "" "{PMID:Garcia-Hoyos 2008:18385043}" "" "907C>T" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85957918G>A" "" "pathogenic" "" "0000377806" "21" "99" "X" "85212923" "85212923" "subst" "0" "02420" "CHM_000048" "g.85212923G>A" "" "{PMID:Esposito 2011:21905166}" "" "907C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85957918G>A" "" "pathogenic" "" "0000377807" "20" "99" "X" "85212923" "85212923" "subst" "0" "00110" "CHM_000048" "g.85212923G>A" "" "{PMID:van Bokhoven 1994:7981671}" "" "907C>T" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85957918G>A" "" "pathogenic" "" "0000377808" "20" "99" "X" "85212923" "85212923" "subst" "0" "00110" "CHM_000048" "g.85212923G>A" "" "{PMID:Mc Donald 1998:9754170}" "" "907C>T" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85957918G>A" "" "pathogenic" "" "0000377809" "20" "99" "X" "85212899" "85212899" "del" "0" "00110" "CHM_000049" "g.85212899del" "" "{PMID:Mc Taggart 2002:12203991}" "" "934del" "hemizygous" "Germline" "" "" "0" "" "" "g.85957894del" "" "pathogenic" "" "0000377810" "20" "99" "X" "85212876" "85212876" "subst" "0" "00110" "CHM_000050" "g.85212876A>C" "" "{PMID:van den Hurk 2003:12827496}" "" "954T>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85957871A>C" "" "pathogenic" "" "0000377811" "20" "99" "X" "85212859" "85212864" "del" "0" "00110" "CHM_000051" "g.85212859_85212864del" "" "{PMID:Iino 2008:18773267}" "" "967_970+2del" "hemizygous" "Germline" "" "" "0" "" "" "g.85957854_85957859del" "" "pathogenic" "" "0000377812" "20" "99" "X" "85212859" "85212864" "del" "0" "00110" "CHM_000051" "g.85212859_85212864del" "" "{PMID:Iino 2008:18773267}" "" "967_970+2del" "hemizygous" "Germline" "" "" "0" "" "" "g.85957854_85957859del" "" "pathogenic" "" "0000377813" "20" "99" "X" "85212859" "85212859" "subst" "0" "00110" "CHM_000052" "g.85212859C>A" "" "{PMID:Mc Taggart 2002:12203991}" "" "970+1G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85957854C>A" "" "pathogenic" "" "0000377814" "21" "99" "X" "85212859" "85212859" "subst" "0" "02420" "CHM_000052" "g.85212859C>A" "" "{PMID:Esposito 2011:21905166}" "" "970+1G>T" "hemizygous; Aberrant splicing that causes exon 7 skipping at mRNA level" "Germline" "" "" "0" "" "" "g.85957854C>A" "" "pathogenic" "" "0000377815" "20" "99" "X" "85211385" "85211385" "subst" "0" "00110" "CHM_000053" "g.85211385T>C" "" "{PMID:van den Hurk 2003:12827496}" "" "971-2A>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85956380T>C" "" "pathogenic" "" "0000377816" "20" "99" "X" "85211345" "85211345" "del" "0" "00110" "CHM_000054" "g.85211345del" "" "{PMID:Mc Taggart 2002:12203991}" "" "1009delC" "hemizygous" "Germline" "" "" "0" "" "" "g.85956340del" "" "pathogenic" "" "0000377817" "20" "99" "X" "85211324" "85211324" "subst" "0" "00110" "CHM_000055" "g.85211324G>A" "" "{PMID:van den Hurk 1997:9067750}" "" "1030C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85956319G>A" "" "pathogenic" "" "0000377818" "20" "99" "X" "85211305" "85211305" "subst" "0" "00110" "CHM_000056" "g.85211305G>T" "" "{PMID:Trujillo 1998:10651486}" "" "1049C>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85956300G>T" "" "pathogenic" "" "0000377819" "20" "99" "X" "85211305" "85211305" "subst" "0" "00110" "CHM_000056" "g.85211305G>T" "" "{PMID:Mc Taggart 2002:12203991}" "" "1049C>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85956300G>T" "" "pathogenic" "" "0000377820" "20" "99" "X" "85211305" "85211305" "subst" "0" "00110" "CHM_000056" "g.85211305G>T" "" "{PMID:Yip 2007:18087237}" "" "1049C>A" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85956300G>T" "" "pathogenic" "" "0000377821" "20" "99" "X" "85211290" "85211290" "subst" "0" "00110" "CHM_000057" "g.85211290G>C" "" "{PMID:Fujiki 1999:10447648}" "+ NlaIII" "1064C>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85956285G>C" "" "pathogenic" "" "0000377822" "20" "99" "X" "85211191" "85211193" "dup" "0" "00110" "CHM_000058" "g.85211191_85211193dup" "" "{PMID:Nesslinger 1996:8832720}" "-BslI" "1162_1163insAAT" "hemizygous" "Germline" "" "" "0" "" "" "g.85956186_85956188dup" "" "pathogenic" "" "0000377823" "20" "99" "X" "85211186" "85211186" "subst" "0" "00110" "CHM_000059" "g.85211186G>A" "" "{PMID:Jacobson 2006:16936131}" "" "1168C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85956181G>A" "" "pathogenic" "" "0000377824" "0" "99" "X" "85211186" "85211186" "subst" "0" "00110" "CHM_000059" "g.85211186G>A" "" "{PMID:Aleman TS 2017:27986385}" "" "1168C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85956181G>A" "" "pathogenic" "" "0000377825" "20" "99" "X" "85211175" "85211175" "dup" "0" "00110" "CHM_000060" "g.85211175dup" "" "{PMID:van Bokhoven 1994:7981671}" "-BsrI" "1183_1184insC" "hemizygous" "Germline" "" "" "0" "" "" "g.85956170dup" "" "pathogenic" "" "0000377826" "20" "99" "X" "85166302" "85166302" "subst" "0" "00110" "CHM_000061" "g.85166302G>C" "" "{PMID:Fujiki 1999:10447648}" "" "1238C>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85911297G>C" "" "pathogenic" "" "0000377827" "20" "99" "X" "85166292" "85166292" "subst" "0" "00110" "CHM_000062" "g.85166292G>T" "" "{PMID:Mc Taggart 2002:12203991}" "+MaeIII; -BslI" "1248C>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85911287G>T" "" "pathogenic" "" "0000377828" "0" "99" "X" "85166292" "85166292" "subst" "0" "00110" "CHM_000062" "g.85166292G>T" "" "{PMID:Yau 2007:17333094}" "+MaeIII; -BslI" "1248C>A" "heterozygous" "Germline" "" "" "0" "" "" "g.85911287G>T" "" "pathogenic" "" "0000377829" "0" "99" "X" "85166292" "85166292" "subst" "0" "00110" "CHM_000062" "g.85166292G>T" "" "{PMID:Aleman TS 2017:27986385}" "+MaeIII; -BslI" "1248C>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85911287G>T" "" "pathogenic" "" "0000377830" "20" "99" "X" "85166292" "85166292" "subst" "0" "00110" "CHM_000062" "g.85166292G>T" "" "{PMID:Nesslinger 1996:8832720}" "+MaeIII; -BslI" "1248C>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85911287G>T" "" "pathogenic" "" "0000377831" "20" "99" "X" "85166265" "85166265" "subst" "0" "00110" "CHM_000063" "g.85166265C>T" "" "{PMID:Mc Taggart 2002:12203991}" "" "1274+1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85911260C>T" "" "pathogenic" "" "0000377832" "20" "99" "X" "85166265" "85166265" "subst" "0" "00110" "CHM_000063" "g.85166265C>T" "" "{PMID:van den Hurk 1997:9067750}" "" "1274+1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85911260C>T" "" "pathogenic" "" "0000377833" "20" "99" "X" "85156154" "85156155" "del" "0" "00110" "CHM_000064" "g.85156154_85156155del" "" "{PMID:Fujiki 1999:10447648}" "" "1313_1314del" "hemizygous" "Germline" "" "" "0" "" "" "g.85901149_85901150del" "" "pathogenic" "" "0000377834" "20" "99" "X" "85156154" "85156155" "del" "0" "00110" "CHM_000064" "g.85156154_85156155del" "" "{PMID:Beaufrère 1997:9441709}" "" "1313_1314del" "hemizygous" "Germline" "" "" "0" "" "" "g.85901149_85901150del" "" "pathogenic" "" "0000377835" "20" "99" "X" "85156149" "85156149" "del" "0" "00110" "CHM_000065" "g.85156149del" "" "{PMID:Mc Taggart 2002:12203991}" "" "1319del" "hemizygous" "Germline" "" "" "0" "" "" "g.85901144del" "" "pathogenic" "" "0000377836" "20" "99" "X" "85156093" "85156094" "ins" "0" "00110" "CHM_000066" "g.85156093_85156094insG" "" "{PMID:Fujiki 1999:10447648}" "-MwoI;+Bso1286I" "1374_1375insC" "hemizygous" "Germline" "" "" "0" "" "" "g.85901088_85901089insG" "" "pathogenic" "" "0000377837" "20" "99" "X" "85156087" "85156089" "dup" "0" "00110" "CHM_000067" "g.85156087_85156089dup" "" "{PMID:van den Hurk 1997:9067750}" "" "1379+2_1379+3insGGT" "hemizygous; 80% mRNA lack exon 10 (in-frame deletion) and 20% lack exons 10 and 11 (frameshift and stop codon)" "Germline" "" "" "0" "" "" "g.85901082_85901084dup" "" "pathogenic" "" "0000377838" "20" "99" "X" "85156087" "85156089" "dup" "0" "00110" "CHM_000067" "g.85156087_85156089dup" "" "{PMID:van den Hurk 1997:9067750}" "" "1379+2_1379+3insGGT" "hemizygous" "Germline" "" "" "0" "" "" "g.85901082_85901084dup" "" "pathogenic" "" "0000377839" "20" "99" "X" "85155720" "85155720" "subst" "0" "00110" "CHM_000068" "g.85155720A>C" "" "{PMID:Mc Taggart 2002:12203991}" "" "1380-6T>G" "hemizygous; Skipping of exon 11 (effect examined at the RNA level) and REP1 not detected" "Germline" "" "" "0" "" "" "g.85900715A>C" "" "pathogenic" "" "0000377840" "20" "99" "X" "85155715" "85155715" "subst" "0" "00110" "CHM_000069" "g.85155715C>T" "" "{PMID:Mc Taggart 2002:12203991}" "" "1380-1G>A" "hemizygous; Skipping of exon 11 (effect examined at the RNA level) and REP1 not detected" "Germline" "" "" "0" "" "" "g.85900710C>T" "" "pathogenic" "" "0000377841" "21" "99" "X" "85155715" "85155715" "subst" "0" "02420" "CHM_000069" "g.85155715C>T" "" "{PMID:Esposito 2011:21905166}" "" "1380-1G>A" "hemizygous; Skipping of exon 11 (effect examined at the RNA level) and REP1 not detected" "Germline" "" "" "0" "" "" "g.85900710C>T" "" "pathogenic" "" "0000377842" "20" "99" "X" "85155705" "85155706" "delins" "0" "00110" "CHM_000070" "g.85155705_85155706delinsC" "" "{PMID:van den Hurk 2003:12827496}" "" "1388_1389delinsG" "hemizygous" "Germline" "" "" "0" "" "" "g.85900700_85900701delinsC" "" "pathogenic" "" "0000377843" "0" "99" "X" "85155705" "85155706" "delins" "0" "00110" "CHM_000070" "g.85155705_85155706delinsC" "" "{PMID:Rudolph 2003:14566650}" "" "1388_1389delinsG" "hemizygous" "Germline" "" "" "0" "" "" "g.85900700_85900701delinsC" "" "pathogenic" "" "0000377844" "20" "99" "X" "85155705" "85155706" "delins" "0" "00110" "CHM_000070" "g.85155705_85155706delinsC" "" "{PMID:van den Hurk 1992:1598901}" "" "1388_1389delinsG" "hemizygous" "Germline" "" "" "0" "" "" "g.85900700_85900701delinsC" "" "pathogenic" "" "0000377845" "20" "99" "X" "85155703" "85155703" "del" "0" "00110" "CHM_000071" "g.85155703del" "" "{PMID:Mc Taggart 2002:12203991}" "-BsaJI" "1393del" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85900698del" "" "pathogenic" "" "0000377846" "20" "99" "X" "85155703" "85155703" "del" "0" "00110" "CHM_000071" "g.85155703del" "" "{PMID:Nesslinger 1996:8832720}" "-BsaJI" "1393del" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85900698del" "" "pathogenic" "" "0000377847" "0" "99" "X" "85155653" "85155653" "subst" "0" "00110" "CHM_000072" "g.85155653G>A" "" "{PMID:Yau 2007:17333094}" "" "1441C>T" "heterozygous" "Germline" "" "" "0" "" "" "g.85900648G>A" "" "pathogenic" "" "0000377848" "20" "99" "X" "85155652" "85155652" "subst" "0" "00110" "CHM_000073" "g.85155652T>A" "" "{PMID:Donnelly 1994:7951216}" "+BsrI" "1442A>T" "hemizygous; Initially described as missense, p.Gln471Leu, this variant induces a skipping of exon 11 (Beaufrère , PMID: 10420193)" "Germline" "" "" "0" "" "" "g.85900647T>A" "" "pathogenic" "" "0000377849" "20" "99" "X" "85149291" "85149291" "subst" "0" "00110" "CHM_000074" "g.85149291T>C" "" "{PMID:van Bokhoven 1994:7981671}" "" "1444-2A>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85894286T>C" "" "pathogenic" "" "0000377850" "20" "99" "X" "85149257" "85149257" "del" "0" "00110" "CHM_000075" "g.85149257del" "" "{PMID:van den Hurk 1992:1598901}" "" "1476del" "hemizygous" "Germline" "" "" "0" "" "" "g.85894252del" "" "pathogenic" "" "0000377851" "20" "99" "X" "85149232" "85149232" "subst" "0" "00110" "CHM_000076" "g.85149232C>A" "" "{PMID:van den Hurk 1992:1598901}" "" "1501G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85894227C>A" "" "pathogenic" "" "0000377852" "20" "99" "X" "85149219" "85149219" "subst" "0" "00110" "CHM_000077" "g.85149219G>T" "" "{PMID:van den Hurk 1992:1598901}" "" "1514C>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85894214G>T" "" "pathogenic" "" "0000377853" "20" "99" "X" "85149206" "85149206" "subst" "0" "00110" "CHM_000078" "g.85149206G>T" "" "{PMID:Schwartz 1993:8477262}" "-NsiI" "1527C>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85894201G>T" "" "pathogenic" "" "0000377854" "20" "99" "X" "85134070" "85134070" "subst" "0" "00110" "CHM_000079" "g.85134070T>C" "" "{PMID:Schwartz 1993:8477262}" "" "1541-2A>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85879065T>C" "" "pathogenic" "" "0000377855" "20" "99" "X" "85134067" "85134067" "subst" "0" "00110" "CHM_000080" "g.85134067A>T" "" "{PMID:Mc Taggart 2002:12203991}" "+XmnI;+Tsp509I;" "1542T>A" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85879062A>T" "" "pathogenic" "" "0000377856" "20" "99" "X" "85134067" "85134067" "subst" "0" "02416" "CHM_000080" "g.85134067A>T" "" "{PMID:Sergeev 2009:19427510}" "+XmnI;+Tsp509I;" "1542T>A" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85879062A>T" "" "pathogenic" "" "0000377857" "20" "99" "X" "85134047" "85134048" "ins" "0" "00110" "CHM_000081" "g.85134047_85134048insATGCTGTTTAGAAGA" "" "{PMID:van den Hurk 2003:12827496}" "" "1561_1562ins15" "hemizygous" "Germline" "" "" "0" "" "" "g.85879042_85879043insATGCTGTTTAGAAGA" "" "pathogenic" "" "0000377858" "20" "99" "X" "85134001" "85134001" "delins" "0" "00110" "CHM_000082" "g.85134001delinsGG" "" "{PMID:Fujiki 1999:10447648}" "-Tsp5091" "1608delinsCC" "hemizygous" "Germline" "" "" "0" "" "" "g.85878996delinsGG" "" "pathogenic" "" "0000377859" "20" "99" "X" "85133997" "85134000" "del" "0" "00110" "CHM_000083" "g.85133997_85134000del" "" "{PMID:Mc Taggart 2002:12203991}" "" "1614_1617del" "hemizygous" "Germline" "" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic" "" "0000377860" "20" "99" "X" "85133997" "85134000" "del" "0" "00110" "CHM_000083" "g.85133997_85134000del" "" "{PMID:Mc Taggart 2002:12203991}" "" "1614_1617del" "hemizygous" "Germline" "" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic" "" "0000377861" "20" "99" "X" "85133997" "85134000" "del" "0" "00110" "CHM_000083" "g.85133997_85134000del" "" "{PMID:Mc Taggart 2002:12203991}" "" "1614_1617del" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic" "" "0000377862" "20" "99" "X" "85133997" "85134000" "del" "0" "00110" "CHM_000083" "g.85133997_85134000del" "" "{PMID:van den Hurk 1992:1598901}" "" "1614_1617del" "hemizygous" "Germline" "" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic" "" "0000377863" "0" "99" "X" "85133997" "85134000" "del" "0" "00110" "CHM_000083" "g.85133997_85134000del" "" "{PMID:Cai XB 2016:27739455}" "" "1614_1617del" "hemizygous" "Germline" "" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic" "" "0000377864" "20" "99" "X" "85133997" "85134000" "del" "0" "00110" "CHM_000083" "g.85133997_85134000del" "" "{PMID:Pascal 1993:8242078}" "" "1614_1617del" "hemizygous" "Germline" "" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic" "" "0000377865" "0" "99" "X" "85133997" "85134000" "del" "0" "00110" "CHM_000083" "g.85133997_85134000del" "" "{PMID:Schwartz 1993:8477262}" "" "1614_1617del" "hemizygous" "Germline" "" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic" "" "0000377866" "20" "99" "X" "85133976" "85133976" "subst" "0" "00110" "CHM_000084" "g.85133976C>A" "" "{PMID:Mc Taggart 2002:12203991}" "" "1633G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85878971C>A" "" "pathogenic" "" "0000377867" "20" "99" "X" "85133968" "85133968" "dup" "0" "00110" "CHM_000085" "g.85133968dup" "" "{PMID:Sankila 1992:1302003}" "+MseI" "1639+2_1639+3insT" "hemizygous" "Germline" "" "" "0" "" "" "g.85878963dup" "" "pathogenic" "" "0000377868" "20" "99" "X" "85133967" "85133967" "subst" "0" "00110" "CHM_000086" "g.85133967T>G" "" "{PMID:Beaufrère 1998:9678418}" "" "1639+3A>C" "hemizygous" "Germline" "" "" "0" "" "" "g.85878962T>G" "" "pathogenic" "" "0000377869" "20" "99" "X" "85128203" "85128203" "del" "0" "00110" "CHM_000087" "g.85128203del" "" "{PMID:Jacobson 2006:16936131}" "" "1654del" "hemizygous" "Germline" "" "" "0" "" "" "g.85873198del" "" "pathogenic" "" "0000377870" "20" "99" "X" "85128183" "85128183" "subst" "0" "00110" "CHM_000088" "g.85128183C>T" "" "{PMID:van den Hurk 2003:12827496}" "" "1674G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85873178C>T" "" "pathogenic" "" "0000377871" "20" "99" "X" "85128177" "85128178" "del" "0" "00110" "CHM_000089" "g.85128177_85128178del" "" "{PMID:Schwartz 1993:8477262}" "" "1680_1681del" "hemizygous" "Germline" "" "" "0" "" "" "g.85873172_85873173del" "" "pathogenic" "" "0000377872" "20" "99" "X" "85128164" "85128164" "subst" "0" "00110" "CHM_000090" "g.85128164T>A" "" "{PMID:Mc Taggart 2002:12203991}" "" "1693A>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85873159T>A" "" "pathogenic" "" "0000377873" "0" "99" "X" "85128164" "85128164" "subst" "0" "00110" "CHM_000090" "g.85128164T>A" "" "{PMID:Aleman TS 2017:27986385}" "" "1693A>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85873159T>A" "" "pathogenic" "" "0000377874" "20" "99" "X" "85128164" "85128164" "subst" "0" "00110" "CHM_000090" "g.85128164T>A" "" "{PMID:Forsythe 1997:9196401}" "" "1693A>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85873159T>A" "" "pathogenic" "" "0000377875" "21" "99" "X" "85128154" "85128154" "subst" "0" "00015" "CHM_000091" "g.85128154G>C" "" "{PMID: Lin 2011:22025891}" "" "1703C>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85873149G>C" "" "pathogenic" "" "0000377876" "20" "99" "X" "85128154" "85128154" "subst" "0" "00110" "CHM_000091" "g.85128154G>C" "" "{PMID:Beaufrère 1996:8956058}" "+BsmAI" "1703C>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85873149G>C" "" "pathogenic" "" "0000377877" "20" "99" "X" "85128102" "85128102" "subst" "0" "00110" "CHM_000092" "g.85128102G>T" "" "{PMID:van den Hurk 2003:12827496}" "" "1755C>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85873097G>T" "" "pathogenic" "" "0000377878" "20" "99" "X" "85128068" "85128068" "del" "0" "00110" "CHM_000093" "g.85128068del" "" "{PMID:Fujiki 1999:10447648}" "" "1789del" "hemizygous" "Germline" "" "" "0" "" "" "g.85873063del" "" "pathogenic" "" "0000377879" "21" "79" "X" "85119827" "85119827" "subst" "0" "00015" "CHM_000094" "g.85119827C>T" "" "{PMID:Zhou 2012:22355242}" "" "1801-1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85864822C>T" "" "likely pathogenic" "" "0000377880" "0" "99" "X" "85119827" "85119827" "subst" "0" "00110" "CHM_000094" "g.85119827C>T" "" "{PMID:Aleman TS 2017:27986385}" "" "1801-1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85864822C>T" "" "pathogenic" "" "0000377881" "20" "75" "X" "85119827" "85119827" "subst" "0" "00110" "CHM_000094" "g.85119827C>T" "" "{PMID:van den Hurk 1997:9067750}" "" "1801-1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85864822C>T" "" "likely pathogenic" "" "0000377882" "20" "99" "X" "85302487" "85302566" "del" "0" "00110" "CHM_000095" "g.(85282562_85302487)_(85302566_?)del" "" "{PMID:Mc Taggart 2002:12203991}" "" "1-?_79+?del" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.(86027558_86047483)_(85302566_?)del" "" "pathogenic" "" "0000377883" "20" "99" "X" "85302487" "85302566" "del" "0" "00110" "CHM_000095" "g.(85282562_85302487)_(85302566_?)del" "" "{PMID:Mc Taggart 2002:12203991}" "" "1-?_79+?del" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.(86027558_86047483)_(85302566_?)del" "" "pathogenic" "" "0000377884" "0" "99" "X" "85302487" "85302566" "del" "0" "00110" "CHM_000095" "g.(85282562_85302487)_(85302566_?)del" "" "{PMID:Yau 2007:17333094}" "" "1-?_79+?del" "heterozygous" "Germline" "" "" "0" "" "" "g.(86027558_86047483)_(85302566_?)del" "" "pathogenic" "" "0000377885" "0" "55" "X" "85302487" "85302566" "del" "0" "00110" "CHM_000095" "g.(85282562_85302487)_(85302566_?)del" "" "{PMID:Aleman TS 2017:27986385}" "" "1-?_79+?del" "heterozygous" "Germline" "" "" "0" "" "" "g.(86027558_86047483)_(85302566_?)del" "" "VUS" "" "0000377886" "20" "99" "X" "85302487" "85302566" "del" "0" "00110" "CHM_000095" "g.(85282562_85302487)_(85302566_?)del" "" "{PMID:van den Hurk 1997:9067750}" "" "1-?_79+?del" "hemizygous" "Germline" "" "" "0" "" "" "g.(86027558_86047483)_(85302566_?)del" "" "pathogenic" "" "0000377887" "20" "99" "X" "85302487" "85302566" "del" "0" "00110" "CHM_000095" "g.(85282562_85302487)_(85302566_?)del" "" "{PMID:van den Hurk 1997:9067750}" "" "1-?_79+?del" "hemizygous" "Germline" "" "" "0" "" "" "g.(86027558_86047483)_(85302566_?)del" "" "pathogenic" "" "0000377888" "20" "99" "X" "85282494" "85302566" "del" "0" "00110" "CHM_000096" "g.(85236814_85282494)_(85302566_?)del" "" "{PMID:van den Hurk 1997:9067750}" "" "1-?_146+?del" "hemizygous" "Germline" "" "" "0" "" "" "g.(85981810_86027490)_(86047562_?)del" "" "pathogenic" "" "0000377889" "20" "99" "X" "85211157" "85302566" "del" "0" "00110" "CHM_000097" "g.(85166344_85211157)_(85302566_?)del" "" "{PMID:van Bokhoven 1994:7981671}" "" "1-?_1196+?del" "hemizygous, DXS110-DXS540 del" "Germline" "" "" "0" "" "" "g.(85911339_85956152)_(86047562_?)del" "" "pathogenic" "" "0000377890" "20" "99" "X" "85211157" "85302566" "del" "0" "00110" "CHM_000097" "g.(85166344_85211157)_(85302566_?)del" "" "{PMID:van Bokhoven 1994:7981671}" "" "1-?_1196+?del" "hemizygous, DXS110-DXS540 del" "Germline" "" "" "0" "" "" "g.(85911339_85956152)_(86047562_?)del" "" "pathogenic" "" "0000377891" "20" "99" "X" "85133969" "85302566" "del" "0" "00110" "CHM_000098" "g.(85128218_85133969)_(85302566_?)del" "" "{PMID:Fujiki 1999:10447648}" "" "1-?_1639+?del" "hemizygous" "Germline" "" "" "0" "" "" "g.(85873213_85878964)_(86047562_?)del" "" "pathogenic" "" "0000377892" "20" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Mc Taggart 2002:12203991}" "" "1-?_5442+?del" "hemizygous; total gene deletion" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377893" "20" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Mc Taggart 2002:12203991}" "" "1-?_5442+?del" "hemizygous; total gene deletion" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377894" "0" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Garcia-Hoyos 2008:18385043}" "" "1-?_5442+?del" "hemizygous; total gene deletion" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377895" "20" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Poloschek 2008:18487380}" "" "1-?_5442+?del" "hemizygous; total gene deletion" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377896" "20" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Poloschek 2008:18487380}" "" "1-?_5442+?del" "hemizygous; total gene deletion" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377897" "20" "99" "X" "85116185" "85302566" "del" "0" "02416" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Strunnikova 2009:20027300}" "" "1-?_5442+?del" "hemizygous; total gene deletion" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377898" "21" "99" "X" "85116185" "85302566" "del" "0" "02416" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Esposito 2011:21905166}" "" "1-?_5442+?del" "hemizygous; total gene deletion" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377899" "21" "99" "X" "85116185" "85302566" "del" "0" "02416" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Esposito 2011:21905166}" "" "1-?_5442+?del" "hemizygous; total gene deletion" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377900" "20" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Cremers 1990:2220804}" "" "1-?_5442+?del" "hemizygous; total gene deletion from DXS110-pJ7.6A del." "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377901" "20" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Cremers 1990:2220804}" "" "1-?_5442+?del" "hemizygous; total gene deletion from Ex1-DXS165 del" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377902" "21" "99" "X" "85116185" "85302566" "del" "0" "02416" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Khateb 2016:27208209}" "" "1-?_5442+?del" "hemizygous; total gene deletion" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377903" "0" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Aleman TS 2017:27986385}" "" "1-?_5442+?del" "hemizygous; total gene deletion" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377904" "0" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:van Bokhoven 1994:7981671}" "" "1-?_5442+?del" "hemizygous; total gene deletion from DXS110 to DXS121." "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377905" "20" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:van Bokhoven 1994:7981671}" "" "1-?_5442+?del" "hemizygous; total gene deletion from DXS110 to DXS233" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377906" "0" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:van Bokhoven 1994:7981671}" "" "1-?_5442+?del" "hemizygous; total gene deletion" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377907" "0" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:van Bokhoven 1994:7981671}" "" "1-?_5442+?del" "hemizygous; total gene deletion from DXS110-pJ15 del" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377908" "20" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Schwartz 1993:8477262}" "" "1-?_5442+?del" "hemizygous; total gene deletion from DXS1002-pJ7.6A del" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377909" "0" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Ponjavic 1995:8749050}" "" "1-?_5442+?del" "hemizygous; total gene deletion" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377910" "0" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "Preising" "" "1-?_5442+?del" "hemizygous; total gene deletion from DXS95-DXS72 del. Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377911" "20" "99" "X" "85116185" "85302566" "del" "0" "00110" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "Preising" "" "1-?_5442+?del" "hemizygous; total gene deletion" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic" "" "0000377912" "20" "99" "X" "85233770" "85236814" "del" "0" "00110" "CHM_000100" "g.(85219058_85233770)_(85236814_85282494)del" "" "{PMID:Garcia-Hoyos 2008:18385043}" "" "147-?_344+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377913" "20" "99" "X" "85211157" "85236814" "del" "0" "00110" "CHM_000101" "g.(85166344_85211157)_(85236814_85282494)del" "" "{PMID:Mc Taggart 2002:12203991}" "" "147-?_1196+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377914" "0" "99" "X" "85211157" "85236814" "del" "0" "00110" "CHM_000101" "g.(85166344_85211157)_(85236814_85282494)del" "" "{PMID:Aleman TS 2017:27986385}" "" "147-?_1196+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377915" "0" "99" "X" "85211157" "85236814" "del" "0" "00110" "CHM_000101" "g.(85166344_85211157)_(85236814_85282494)del" "" "{PMID:Aleman TS 2017:27986385}" "" "147-?_1196+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377916" "20" "99" "X" "85166265" "85236814" "del" "0" "00110" "CHM_000102" "g.(85156194_85166265)_(85236814_85282494)del" "" "{PMID:Jacobson 2006:16936131}" "" "147-?_1274+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377917" "20" "99" "X" "85149192" "85236814" "del" "0" "00110" "CHM_000103" "g.(85134069_85149192)_(85236814_85282494)del" "" "{PMID:Mc Taggart 2002:12203991}" "" "147-?_1540+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377918" "20" "99" "X" "85116185" "85236814" "del" "0" "00110" "CHM_000104" "g.(?_85116185)_(85236814_85282494)del" "" "{PMID:van Bokhoven 1994:7981671}" "" "147-?_5442+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377919" "20" "99" "X" "85211157" "85219058" "del" "0" "00110" "CHM_000105" "g.(85166344_85211157)_(85219058_85233770)del" "" "{PMID:Mc Taggart 2002:12203991}" "" "345-?_1196+?del" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377920" "0" "99" "X" "85211157" "85219058" "del" "0" "00110" "CHM_000105" "g.(85166344_85211157)_(85219058_85233770)del" "" "{PMID:Yau 2007:17333094}" "" "345-?_1196+?del" "heterozygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377921" "20" "99" "X" "85166265" "85166344" "del" "0" "00110" "CHM_000106" "g.(85156194_85166265)_(85166344_85211157)del" "" "{PMID:Jacobson 2006:16936131}" "" "1197-?_1274+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377922" "0" "99" "X" "85166265" "85166344" "del" "0" "00110" "CHM_000106" "g.(85156194_85166265)_(85166344_85211157)del" "" "{PMID:Jacobson 2006:16936131}" "" "1197-?_1274+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377923" "20" "99" "X" "85133969" "85166344" "del" "0" "00110" "CHM_000107" "g.(85128218_85133969)_(85166344_85211157)del" "" "{PMID:Cremers 1990:2220804}" "" "1197-?_1639+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377924" "20" "99" "X" "85116185" "85166344" "del" "0" "00110" "CHM_000108" "g.(?_85116185)_(85166344_85211157)del" "" "{PMID:Mc Taggart 2002:12203991}" "" "1197-?_5442+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377925" "20" "99" "X" "85116185" "85166344" "del" "0" "00110" "CHM_000108" "g.(?_85116185)_(85166344_85211157)del" "" "{PMID:Cremers 1990:2220804}" "" "1197-?_5442+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377926" "20" "99" "X" "85149192" "85149290" "del" "0" "00110" "CHM_000109" "g.(85134069_85149192)_(85149290_85155650)del" "" "{PMID:Schwartz 1993:8477262}" "" "1444-?_1540+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377927" "20" "99" "X" "85116185" "85149290" "del" "0" "00110" "CHM_000110" "g.(?_85116185)_(85149290_85155650)del" "" "{PMID:Cremers 1990:2220804}" "" "1444-?_5442+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377928" "20" "99" "X" "85211157" "85236814" "del" "0" "00110" "CHM_000101" "g.(85166344_85211157)_(85236814_85282494)del" "" "{PMID:Cremers 1990:2220804}" "" "147-?_1196+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377929" "0" "99" "X" "85293348" "85304546" "del" "0" "00110" "CHM_000112" "g.85293348_85304546del" "" "{PMID:van den Hurk 2003:12827496}" "" "1-2010_49+9140del" "hemizygous" "Germline" "" "" "0" "" "" "g.86038344_86049542del" "" "pathogenic" "" "0000377930" "20" "99" "X" "85116185" "85233896" "del" "0" "00110" "CHM_000113" "g.(?_85116185)_(85233896_85236740)del" "" "Preising" "" "220-?_5442+?del" "hemizygous; DXS540-DXS72 del. Markus Preising, Pooled Sample Homoallelity Testing (PSHT):rnEin neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377931" "21" "99" "X" "85282494" "85282494" "subst" "0" "02420" "CHM_000114" "g.85282494C>A" "" "{PMID:Esposito 2011:21905166}" "+AflII;+SmlI;+MseI;" "146+1G>T" "hemizygous; Aberrant splicing that causes exon 2 skipping at mRNA level" "Germline" "" "" "0" "" "" "g.86027490C>A" "" "pathogenic" "" "0000377932" "21" "99" "X" "85236740" "85282562" "del" "0" "02420" "CHM_000115" "g.(85233896_85236740)_(85282562_85302487)del" "" "{PMID:Esposito 2011:21905166}" "" "80-?_219+?del" "hemizygous; REP1 mRNA lacks exons 2 and 3" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377933" "21" "99" "X" "85218821" "85218822" "dup" "0" "02420" "CHM_000116" "g.85218821_85218822dup" "" "{PMID:Esposito 2011:21905166}" "" "581_582insGA" "hemizygous" "Germline" "" "" "0" "" "" "g.85963816_85963817dup" "" "pathogenic" "" "0000377934" "20" "99" "X" "85212859" "85213983" "del" "0" "02416" "CHM_000117" "g.(85211384_85212859)_(85213983_85218669)del" "" "{PMID:Strunnikova 2009:20027300}" "" "733-?_970+?del" "hemizygous; Out-of frame deletion of exons 6 and 7" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377935" "21" "99" "X" "85212859" "85213983" "del" "0" "02420" "CHM_000117" "g.(85211384_85212859)_(85213983_85218669)del" "" "{PMID:Esposito 2011:21905166}" "" "733-?_970+?del" "hemizygous; No PCR amplification of exons 6 and 7" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377936" "21" "99" "X" "85212982" "85212982" "subst" "0" "02420" "CHM_000118" "g.85212982T>C" "" "{PMID:Esposito 2011:21905166}" "none" "850-2A>G" "hemizygous; Aberrant splicing that leads to exon 7 skipping at mRNA level" "Germline" "" "" "0" "" "" "g.85957977T>C" "" "pathogenic" "" "0000377937" "0" "99" "X" "85212982" "85212982" "subst" "0" "00110" "CHM_000118" "g.85212982T>C" "" "{PMID:Aleman TS 2017:27986385}" "none" "850-2A>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85957977T>C" "" "pathogenic" "" "0000377938" "21" "99" "X" "85156126" "85156129" "del" "0" "02420" "CHM_000119" "g.85156126_85156129del" "" "{PMID:Esposito 2011:21905166}" "-HpyCH4III" "1340_1343delGTTA" "hemizygous" "Germline" "" "" "0" "" "" "g.85901121_85901124del" "" "pathogenic" "" "0000377939" "21" "99" "X" "85134059" "85134059" "subst" "0" "02420" "CHM_000120" "g.85134059T>C" "" "{PMID:Esposito 2011:21905166}; USMA-{MSV3dP24386p.His507Arg:}" "none" "1550A>G" "hemizygous; A rare missense variant that prevents the binding of REP1 to Rab geranylgeranyl transferase" "Germline" "" "" "0" "" "" "g.85879054T>C" "" "pathogenic" "" "0000377940" "0" "77" "X" "85134059" "85134059" "subst" "0" "00110" "CHM_000120" "g.85134059T>C" "" "{PMID:Aleman TS 2017:27986385}; USMA-{MSV3dP24386p.His507Arg:}" "none" "1550A>G" "hemizygous; A rare missense variant that prevents the binding of REP1 to Rab geranylgeranyl transferase" "Germline" "" "" "0" "" "" "g.85879054T>C" "" "likely pathogenic" "" "0000377941" "21" "99" "X" "85155661" "85155661" "subst" "0" "02416" "CHM_000121" "g.85155661G>C" "" "{PMID:Perez-cano 2009:19764077}" "-Hpy188I;-TfiI;-HinfI;" "1433C>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85900656G>C" "" "pathogenic" "" "0000377942" "21" "99" "X" "85155661" "85155661" "subst" "0" "02416" "CHM_000121" "g.85155661G>C" "" "{PMID:Perez-cano 2009:19764077}" "-Hpy188I;-TfiI;-HinfI;" "1433C>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85900656G>C" "" "pathogenic" "" "0000377943" "0" "99" "X" "85155716" "85155716" "subst" "0" "02416" "CHM_000122" "g.85155716T>C" "" "{PMID:Renner 2009:19597113}" "none" "1380-2A>G" "heterozygous" "Germline" "" "" "0" "" "" "g.85900711T>C" "" "pathogenic" "" "0000377944" "20" "99" "X" "85128181" "85128181" "del" "0" "02416" "CHM_000123" "g.85128181del" "" "{PMID:Sergeev 2009:19427510}" "-Bsp1286I;-BanII;-CviKI_1;" "1676delC" "hemizygous; REP-1 not detected" "Germline" "" "" "0" "" "" "g.85873176del" "" "pathogenic" "" "0000377945" "21" "99" "X" "85128178" "85128178" "subst" "0" "02416" "CHM_000124" "g.85128178A>G" "" "{PMID:Sergeev 2009:19427510}; USMA-{MSV3dP24386p.Leu550Pro:}" "+NlaIV" "1679T>C" "hemizygous; REP-1 not detected or at very low levels" "Germline" "" "" "0" "" "" "g.85873173A>G" "" "pathogenic" "" "0000377946" "0" "99" "X" "85128178" "85128178" "subst" "0" "00110" "CHM_000124" "g.85128178A>G" "" "{PMID:Aleman TS 2017:27986385}; USMA-{MSV3dP24386p.Leu550Pro:}" "+NlaIV" "1679T>C" "hemizygous; REP-1 not detected or at very low levels" "Germline" "" "" "0" "" "" "g.85873173A>G" "" "pathogenic" "" "0000377947" "20" "99" "X" "85156110" "85156111" "del" "0" "02416" "CHM_000125" "g.85156110_85156111del" "" "{PMID:Strunnikova 2009:20027300}" "+HpyCH4IV;-NlaIII;-FatI;-AflIII;-CviAII;-NspI;" "1357_1358delAT" "hemizygous" "Germline" "" "" "0" "" "" "g.85901105_85901106del" "" "pathogenic" "" "0000377948" "0" "99" "X" "85156110" "85156111" "del" "0" "00110" "CHM_000125" "g.85156110_85156111del" "" "{PMID:Aleman TS 2017:27986385}" "+HpyCH4IV;-NlaIII;-FatI;-AflIII;-CviAII;-NspI;" "1357_1358delAT" "hemizygous" "Germline" "" "" "0" "" "" "g.85901105_85901106del" "" "pathogenic" "" "0000377949" "20" "99" "X" "85213868" "85213868" "subst" "0" "02416" "CHM_000126" "g.85213868G>A" "" "{PMID:Strunnikova 2009:20027300}" "-AlwNI" "847C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958863G>A" "" "pathogenic" "" "0000377950" "21" "99" "X" "85218672" "85218672" "subst" "0" "02416" "CHM_000127" "g.85218672T>A" "" "{PMID:Strunnikova 2009:20027300}" "none" "730A>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85963667T>A" "" "pathogenic" "" "0000377951" "21" "99" "X" "85218672" "85218672" "subst" "0" "02416" "CHM_000127" "g.85218672T>A" "" "{PMID:Strunnikova 2009:20027300}" "none" "730A>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85963667T>A" "" "pathogenic" "" "0000377952" "21" "99" "X" "85218672" "85218672" "subst" "0" "02416" "CHM_000127" "g.85218672T>A" "" "{PMID:Strunnikova 2009:20027300}" "none" "730A>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85963667T>A" "" "pathogenic" "" "0000377953" "0" "99" "X" "85218672" "85218672" "subst" "0" "00110" "CHM_000127" "g.85218672T>A" "" "{PMID:Aleman TS 2017:27986385}" "none" "730A>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85963667T>A" "" "pathogenic" "" "0000377954" "20" "79" "X" "85302534" "85302534" "subst" "0" "02416" "CHM_000128" "g.85302534C>T" "" "{PMID:Strunnikova 2009:20027300}" "-BccI;-EciI;" "33G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.86047530C>T" "" "likely pathogenic" "ACMG" "0000377955" "21" "99" "X" "85116185" "85156194" "del" "0" "02416" "CHM_000129" "g.(?_85116185)_(85156194_85166265)del" "" "{PMID:Esposito 2011:21905166}" "" "1275-?_5442+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377956" "21" "99" "X" "85149215" "85149215" "delins" "0" "00015" "CHM_000130" "g.85149215delinsGTTAT" "" "{PMID: Lin 2011:22025891}" "" "1518delGinsATAAC" "hemizygous" "Germline" "" "" "0" "" "" "g.85894210delinsGTTAT" "" "pathogenic" "" "0000377957" "21" "99" "X" "85166316" "85166316" "subst" "0" "00015" "CHM_000131" "g.85166316A>C" "" "{PMID:Huang 2012:22965595}" "" "1224T>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85911311A>C" "" "pathogenic" "" "0000377958" "21" "99" "X" "85211194" "85211194" "subst" "0" "00015" "CHM_000132" "g.85211194A>T" "" "{PMID:Zhou 2012:22355242}" "+MseI" "1160T>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85956189A>T" "" "pathogenic" "" "0000377959" "21" "99" "X" "85218759" "85218760" "del" "0" "00015" "CHM_000133" "g.85218759_85218760del" "" "{PMID:Zhou 2012:22355242}" "" "c.612delAG/ p.Glu204Glufsx18" "hemizygous;" "Germline" "" "" "0" "" "" "g.85963754_85963755del" "" "pathogenic" "" "0000377960" "20" "75" "X" "85166265" "85236814" "dup" "0" "00015" "CHM_000134" "g.(85156194_85166265)_(85236814_85282494)dup" "" "{PMID:Chi 2012:23273018}" "" "147-?_1274+?dup" "hemizygous" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000377970" "21" "99" "X" "85211355" "85211355" "subst" "0" "02426" "CHM_000145" "g.85211355A>T" "" "" "" "999T>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85956350A>T" "" "pathogenic" "" "0000378072" "0" "99" "X" "85149192" "85302566" "del" "0" "02426" "CHM_000245" "g.(85134069_85149192)_(85302566_?)del" "" "{PMID:Dimopoulos IS 2016:27537265}" "" "1-?_1630+?del" "hemizygous" "Germline" "" "" "0" "" "" "g.(85879064_85894187)_(86047562_?)del" "" "pathogenic" "" "0000378073" "0" "99" "X" "85134069" "85134069" "subst" "0" "02426" "CHM_000246" "g.85134069C>T" "" "{PMID:Freund 2016:27247961}" "" "1541-1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85879064C>T" "" "pathogenic" "" "0000378074" "21" "99" "X" "85218719" "85218719" "subst" "0" "02426" "CHM_000247" "g.85218719G>C" "" "{PMID:Freund 2016:27247961}" "" "683C>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85963714G>C" "" "pathogenic" "" "0000378075" "21" "99" "X" "85116185" "85155715" "dup" "0" "02426" "CHM_000248" "g.(?_85116185)_(85155715_85156088)dup" "" "" "" "1380-?_5442+?dup" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378076" "21" "99" "X" "85233861" "85233861" "subst" "0" "02426" "CHM_000249" "g.85233861C>T" "" "" "" "254G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85978857C>T" "" "pathogenic" "" "0000378077" "21" "99" "X" "85212947" "85212947" "dup" "0" "02426" "CHM_000250" "g.85212947dup" "" "" "" "885dup" "hemizygous" "Germline" "" "" "0" "" "" "g.85957942dup" "" "pathogenic" "" "0000378078" "21" "99" "X" "85233853" "85233853" "subst" "0" "02426" "CHM_000251" "g.85233853G>A" "" "{PMID:Freund 2016:27247961}" "" "262C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85978849G>A" "" "pathogenic" "" "0000378079" "0" "99" "X" "85156165" "85156165" "subst" "0" "00110" "CHM_000252" "g.85156165G>A" "" "{PMID:McLaren TL 2015:25912515}" "" "1303C>T" "heterozygous" "Germline" "" "" "0" "" "" "g.85901160G>A" "" "pathogenic" "" "0000378080" "21" "99" "X" "85156165" "85156165" "subst" "0" "02426" "CHM_000252" "g.85156165G>A" "" "{PMID:Freund 2016:27247961}" "" "1303C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85901160G>A" "" "pathogenic" "" "0000378081" "20" "99" "X" "85128203" "85128203" "subst" "0" "02426" "CHM_000253" "g.85128203C>A" "" "{PMID:Freund 2016:27247961}" "" "1654G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85873198C>A" "" "pathogenic" "" "0000378082" "21" "99" "X" "85218693" "85218693" "del" "0" "02426" "CHM_000254" "g.85218693del" "" "" "" "711del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963688del" "" "pathogenic" "" "0000378083" "21" "99" "X" "85149192" "85166344" "del" "0" "02426" "CHM_000255" "g.(85134069_85149192)_(85166344_85211157)del" "" "" "" "1197-?_1540+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378084" "21" "99" "X" "85218669" "85219058" "del" "0" "02426" "CHM_000256" "g.(85213983_85218669)_(85219058_85233770)del" "" "" "" "345-?_732+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378085" "20" "99" "X" "85133986" "85133986" "subst" "0" "02426" "CHM_000257" "g.85133986A>C" "" "" "" "1623T>C" "hemizygous" "Germline" "" "" "0" "" "" "g.85878981A>C" "" "pathogenic" "" "0000378086" "21" "99" "X" "85213946" "85213950" "del" "0" "02426" "CHM_000258" "g.85213946_85213950del" "" "" "" "767_771del" "hemizygous" "Germline" "" "" "0" "" "" "g.85958941_85958945del" "" "pathogenic" "" "0000378087" "0" "99" "X" "85128157" "85128157" "subst" "0" "02426" "CHM_000259" "g.85128157G>T" "" "{PMID:Freund 2016:27247961}" "" "1700C>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85873152G>T" "" "pathogenic" "" "0000378088" "21" "99" "X" "85166297" "85166297" "subst" "0" "02426" "CHM_000260" "g.85166297G>A" "" "" "" "1243C>T" "heterozygous" "Germline" "" "" "0" "" "" "g.85911292G>A" "" "pathogenic" "" "0000378089" "21" "99" "X" "85149192" "85156194" "del" "0" "02426" "CHM_000261" "g.(85134069_85149192)_(85156194_85166265)del" "" "" "" "1275-?_1540+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378090" "20" "99" "X" "85128056" "85128218" "del" "0" "02426" "CHM_000262" "g.(85119827_85128056)_(85128218_85133969)del" "" "" "" "1640-?_1800+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378091" "11" "99" "X" "85156194" "85156194" "subst" "0" "02426" "CHM_000263" "g.85156194C>A" "" "" "" "1275-1G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85901189C>A" "" "pathogenic" "" "0000378092" "11" "99" "X" "0" "0" "" "0" "02426" "CHM_000264" "g.?" "" "" "" "147-?_344+?del;733-?_1541+?del" "hemizygous; Non contiguous deletion of exons 3-4 and 6-12" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378093" "21" "99" "X" "85166267" "85166267" "subst" "0" "02426" "CHM_000265" "g.85166267T>A" "" "" "" "1273A>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85911262T>A" "" "pathogenic" "" "0000378094" "21" "99" "X" "85211265" "85211265" "del" "0" "02426" "CHM_000266" "g.85211265del" "" "" "" "1089del" "hemizygous" "Germline" "" "" "0" "" "" "g.85956260del" "" "pathogenic" "" "0000378095" "21" "99" "X" "85233770" "85282562" "del" "0" "00110" "CHM_000267" "g.(85219058_85233770)_(85282562_85302487)del" "" "{PMID:Freund 2016:27247961}" "" "80-?_334+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378096" "0" "99" "X" "85233770" "85282562" "del" "0" "00110" "CHM_000267" "g.(85219058_85233770)_(85282562_85302487)del" "" "{PMID:Aleman TS 2017:27986385}" "" "80-?_334+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378097" "20" "99" "X" "85116185" "85119827" "del" "0" "02426" "CHM_000268" "g.(?_85116185)_(85119827_85128056)del" "" "{PMID:Zeitz 2021:33538369}" "" "1810-?_1992+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378098" "21" "99" "X" "85233894" "85233894" "del" "0" "02426" "CHM_000269" "g.85233894del" "" "" "" "224del" "hemizygous" "Germline" "" "" "0" "" "" "g.85978890del" "" "pathogenic" "" "0000378099" "21" "99" "X" "85211230" "85211230" "del" "0" "02426" "CHM_000270" "g.85211230del" "" "" "" "1125del" "hemizygous" "Germline" "" "" "0" "" "" "g.85956225del" "" "pathogenic" "" "0000378100" "21" "99" "X" "85218902" "85218905" "del" "0" "02426" "CHM_000271" "g.85218902_85218905del" "" "{PMID:Dimopoulos IS 2016:27537265}" "" "500_503del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963897_85963900del" "" "pathogenic" "" "0000378101" "21" "99" "X" "85212859" "85236814" "del" "0" "02426" "CHM_000272" "g.(85211384_85212859)_(85236814_85282494)del" "" "{PMID:Dimopoulos IS 2016:27537265}" "" "147-?_970+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378102" "0" "99" "X" "85212949" "85212954" "delins" "0" "02426" "CHM_000273" "g.85212949_85212954delinsATATT" "" "" "" "876_881delinsAATAT" "hemizygous" "Germline" "" "" "0" "" "" "g.85957944_85957949delinsATATT" "" "pathogenic" "" "0000378103" "20" "55" "X" "85166290" "85166290" "subst" "0" "00110" "CHM_000274" "g.85166290A>T" "" "{PMID:Heon E 2016:27409497}; USMA-{MSV3dP24386p.Leu407His:}" "" "1250T>A" "hemizygous; Patient cell line is REP-1 negative" "Germline" "" "" "0" "" "" "g.85911285A>T" "" "VUS" "" "0000378104" "21" "99" "X" "85211321" "85211322" "del" "0" "02426" "CHM_000275" "g.85211321_85211322del" "" "" "" "1036_1037delAT" "hemizygous" "Germline" "" "" "0" "" "" "g.85956316_85956317del" "" "pathogenic" "" "0000378105" "20" "99" "X" "85212955" "85212956" "del" "0" "02426" "CHM_000276" "g.85212955_85212956del" "" "" "" "875_876delTT" "hemizygous" "Germline" "" "" "0" "" "" "g.85957950_85957951del" "" "pathogenic" "" "0000378106" "20" "99" "X" "85211235" "85211235" "del" "0" "02426" "CHM_000277" "g.85211235del" "" "" "" "1119del" "hemizygous" "Germline" "" "" "0" "" "" "g.85956230del" "" "pathogenic" "" "0000378107" "20" "99" "X" "85149290" "85149290" "subst" "0" "02426" "CHM_000278" "g.85149290C>G" "" "" "" "1444-1G>C" "hemizygous" "Germline" "" "" "0" "" "" "g.85894285C>G" "" "pathogenic" "" "0000378108" "20" "95" "X" "85302634" "85302634" "subst" "0" "00110" "CHM_000279" "g.85302634G>T" "" "{PMID:Radziwon 2017:28271586}" "" "-68C>A/c.-98C>A" "hemizygous; The variant was shown to abrogate gene expression in a promoter assay." "Germline" "" "" "0" "" "" "g.86047630G>T" "" "pathogenic" "" "0000378109" "21" "99" "X" "85302634" "85302634" "subst" "0" "00110" "CHM_000280" "g.85302634G>A" "" "{PMID:Radziwon 2017:28271586}" "" "-68C>T/c.-98C>T" "hemizygous; The variant was shown to abrogate gene expression in a promoter assay." "Germline" "" "" "0" "" "" "g.86047630G>A" "" "pathogenic" "" "0000378110" "20" "99" "X" "85156714" "85156714" "subst" "0" "02426" "CHM_000281" "g.85156714T>C" "" "{PMID:Dimopoulos IS 2016:27537265}" "" "1275-521A>G" "hemizygous; Insertion of 23 amino acids including stop codon HYPTRDHIAILGQKRNQHLTEK-" "Germline" "" "" "0" "" "" "g.85901709T>C" "" "pathogenic" "" "0000378111" "0" "99" "X" "85156714" "85156714" "subst" "0" "00110" "CHM_000281" "g.85156714T>C" "" "{PMID:Dimopoulos IS 2016:27537265}" "" "1275-521A>G" "hemizygous; Insertion of 23 amino acids including stop codon HYPTRDHIAILGQKRNQHLTEK-" "Germline" "" "" "0" "" "" "g.85901709T>C" "" "pathogenic" "" "0000378112" "20" "99" "X" "85302509" "85302512" "delins" "0" "00110" "CHM_000282" "g.85302509_85302512delinsTTACTATTACT" "" "{PMID:Freund 2016:27247961}" "" "55_58delTTTGinsAGTAATAGTAA" "hemizygous" "Germline" "" "" "0" "" "" "g.86047505_86047508delinsTTACTATTACT" "" "pathogenic" "" "0000378113" "0" "99" "X" "85302509" "85302512" "delins" "0" "00110" "CHM_000282" "g.85302509_85302512delinsTTACTATTACT" "" "{PMID:Aleman TS 2017:27986385}" "" "55_58delTTTGinsAGTAATAGTAA" "hemizygous" "Germline" "" "" "0" "" "" "g.86047505_86047508delinsTTACTATTACT" "" "pathogenic" "" "0000378115" "20" "99" "X" "85212911" "85212911" "subst" "0" "00110" "CHM_000284" "g.85212911T>A" "" "{PMID:Aleman TS 2017:27986385}" "" "919A>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85957906T>A" "" "pathogenic" "" "0000378116" "20" "99" "X" "85236740" "85236740" "subst" "0" "00110" "CHM_000285" "g.85236740C>A" "" "{PMID:Aleman TS 2017:27986385}" "" "219+1G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85981736C>A" "" "pathogenic" "" "0000378117" "20" "99" "X" "85155650" "85302566" "del" "0" "00110" "CHM_000286" "g.(85149290_85155650)_(85302566_?)del" "" "{PMID:Ramsden SC 2013:23811034}" "" "1-?_1443+?del" "hemizygous" "Germline" "" "" "0" "" "" "g.(85894285_85900645)_(86047562_?)del" "" "pathogenic" "" "0000378118" "20" "99" "X" "85156110" "85156111" "del" "0" "02429" "CHM_000287" "g.85156110_85156111del" "" "{PMID:Aleman TS 2017:27986385}" "-CviAII, FatI, NlaIII, NspI, PciI" "1357_1358delAT" "hemizygous" "Germline" "" "" "0" "" "" "g.85901105_85901106del" "" "pathogenic" "" "0000378119" "21" "99" "X" "85218687" "85218687" "dup" "0" "00110" "CHM_000288" "g.85218687dup" "" "{PMID:McLaren TL 2015:25912515}" "" "715dupA" "hemizygous" "Germline" "" "" "0" "" "" "g.85963682dup" "" "pathogenic" "" "0000378120" "21" "99" "X" "85213865" "85213865" "subst" "0" "00110" "CHM_000289" "g.85213865C>G" "" "{PMID:McLaren TL 2015:25912515}" "" "849+1G>C" "hemizygous" "Germline" "" "" "0" "" "" "g.85958860C>G" "" "pathogenic" "" "0000378121" "21" "99" "X" "85156150" "85156151" "del" "0" "00110" "CHM_000290" "g.85156150_85156151del" "" "{PMID:McLaren TL 2015:25912515}" "" "1317_1318delTG" "hemizygous" "Germline" "" "" "0" "" "" "g.85901145_85901146del" "" "pathogenic" "" "0000378122" "20" "99" "X" "85212859" "85212859" "subst" "0" "00110" "CHM_000291" "g.85212859C>T" "" "{PMID:McLaren TL 2015:25912515}" "" "970+1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85957854C>T" "" "pathogenic" "" "0000378123" "20" "99" "X" "85233803" "85233803" "del" "0" "00110" "CHM_000292" "g.85233803del" "" "{PMID:Khan KN 2016:27506488}" "" "312delT" "hemizygous" "Germline" "" "" "0" "" "" "g.85978799del" "" "pathogenic" "" "0000378124" "20" "99" "X" "85218698" "85218698" "dup" "0" "00110" "CHM_000293" "g.85218698dup" "" "{PMID:Khan KN 2016:27506488}" "" "705dupG" "hemizygous" "Germline" "" "" "0" "" "" "g.85963693dup" "" "pathogenic" "" "0000378125" "20" "99" "X" "85218852" "85218853" "del" "0" "00110" "CHM_000294" "g.85218852_85218853del" "" "{PMID:Aleman TS 2017:27986385}" "" "549_550del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963847_85963848del" "" "pathogenic" "" "0000378126" "20" "99" "X" "85156088" "85166344" "del" "0" "00110" "CHM_000295" "g.(85155715_85156088)_(85166344_85211157)del" "" "{PMID:Aleman TS 2017:27986385}" "" "1197-?_1379+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378127" "20" "99" "X" "85213868" "85213868" "dup" "0" "00110" "CHM_000296" "g.85213868dup" "" "{PMID:Aleman TS 2017:27986385}" "" "847dupC" "hemizygous" "Germline" "" "" "0" "" "" "g.85958863dup" "" "pathogenic" "" "0000378128" "20" "99" "X" "85149266" "85149266" "dup" "0" "00110" "CHM_000297" "g.85149266dup" "" "{PMID:Aleman TS 2017:27986385}" "" "1467dupA" "hemizygous" "Germline" "" "" "0" "" "" "g.85894261dup" "" "pathogenic" "" "0000378129" "20" "99" "X" "85218792" "85218793" "del" "0" "00110" "CHM_000298" "g.85218792_85218793del" "" "{PMID:Aleman TS 2017:27986385}" "" "610_611delGA" "hemizygous" "Germline" "" "" "0" "" "" "g.85963787_85963788del" "" "pathogenic" "" "0000378130" "20" "99" "X" "85211180" "85211180" "subst" "5.61994E-6" "00110" "CHM_000299" "g.85211180C>A" "" "{PMID:Aleman TS 2017:27986385}" "" "1174G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85956175C>A" "" "pathogenic" "" "0000378131" "20" "99" "X" "85211156" "85211156" "subst" "0" "00110" "CHM_000300" "g.85211156A>C" "" "{PMID:Aleman TS 2017:27986385}" "" "1196+2T>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85956151A>C" "" "pathogenic" "" "0000378132" "20" "99" "X" "85213940" "85213940" "del" "0" "00110" "CHM_000301" "g.85213940del" "" "{PMID:Aleman TS 2017:27986385}" "" "775delT" "hemizygous" "Germline" "" "" "0" "" "" "g.85958935del" "" "pathogenic" "" "0000378133" "20" "99" "X" "85212890" "85212890" "subst" "0" "00110" "CHM_000302" "g.85212890C>A" "" "{PMID:Aleman TS 2017:27986385}" "" "940G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85957885C>A" "" "pathogenic" "" "0000378134" "20" "99" "X" "85149289" "85149290" "delins" "0" "00110" "CHM_000303" "g.85149289_85149290delinsAT" "" "{PMID:Aleman TS 2017:27986385}" "" "1434-1_1444delGAinsAT" "hemizygous" "Germline" "" "" "0" "" "" "g.85894284_85894285delinsAT" "" "pathogenic" "" "0000378135" "20" "99" "X" "85156089" "85156089" "subst" "0" "00110" "CHM_000304" "g.85156089C>T" "" "{PMID:Sun LW 2016:27936069}" "" "1379G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85901084C>T" "" "pathogenic" "" "0000378136" "20" "99" "X" "85134048" "85134048" "dup" "0" "00110" "CHM_000305" "g.85134048dup" "" "{PMID:Sun LW 2016:27936069}" "" "1561dupA" "hemizygous" "Germline" "" "" "0" "" "" "g.85879043dup" "" "pathogenic" "" "0000378137" "20" "99" "X" "85133997" "85134000" "del" "0" "00110" "CHM_000306" "g.85133997_85134000del" "" "{PMID:Sun LW 2016:27936069}" "" "1609_1612del" "hemizygous" "Germline" "" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic" "" "0000378138" "20" "99" "X" "85302521" "85302522" "dup" "0" "00110" "CHM_000307" "g.85302521_85302522dup" "" "{PMID:Dysli C 2016:27951593}" "" "46_47dupCC" "hemizygous" "Germline" "" "" "0" "" "" "g.86047517_86047518dup" "" "pathogenic" "" "0000378139" "20" "99" "X" "85127537" "85127537" "subst" "0" "00110" "CHM_000308" "g.85127537G>C" "" "{PMID:Dysli C 2016:27951593}" "" "1800+520C>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85872532G>C" "" "pathogenic" "" "0000378140" "20" "99" "X" "85155650" "85156194" "del" "0" "00110" "CHM_000309" "g.(85149290_85155650)_(85156194_85166265)del" "" "{PMID:Ramsden SC 2013:23811034}" "" "1275-?_1443+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378141" "20" "99" "X" "85302517" "85302517" "subst" "0" "00110" "CHM_000310" "g.85302517G>T" "" "{PMID:Ramsden SC 2013:23811034}" "" "50C>A" "hemizygous" "Germline" "" "" "0" "" "" "g.86047513G>T" "" "pathogenic" "" "0000378142" "20" "99" "X" "85302486" "85302486" "dup" "0" "00110" "CHM_000311" "g.85302486dup" "" "{PMID:Ramsden SC 2013:23811034}" "" "79+2dupT" "hemizygous" "Germline" "" "" "0" "" "" "g.86047482dup" "" "pathogenic" "" "0000378143" "0" "99" "X" "85302478" "85302485" "delins" "0" "00110" "CHM_000312" "g.85302478_85302485delinsAAGC" "" "{PMID:Ramsden SC 2013:23811034}" "" "79+3_79+10delinsGCTT" "hemizygous" "Germline" "" "" "0" "" "" "g.86047474_86047481delinsAAGC" "" "pathogenic" "" "0000378144" "20" "77" "X" "85282507" "85282507" "subst" "0" "00110" "CHM_000313" "g.85282507A>G" "" "{PMID:Ramsden SC 2013:23811034}" "" "134T>C" "hemizygous" "Germline" "" "" "0" "" "" "g.86027503A>G" "" "likely pathogenic" "" "0000378145" "0" "77" "X" "85282507" "85282507" "subst" "0" "00110" "CHM_000313" "g.85282507A>G" "" "{PMID:Simunovic MP 2017:28152124}" "" "134T>C" "hemizygous" "Germline" "" "" "0" "" "" "g.86027503A>G" "" "likely pathogenic" "" "0000378146" "20" "99" "X" "85236804" "85236804" "subst" "0" "00110" "CHM_000314" "g.85236804G>C" "" "{PMID:Ramsden SC 2013:23811034}" "" "156C>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85981800G>C" "" "pathogenic" "" "0000378147" "20" "99" "X" "85236757" "85236757" "subst" "0" "00110" "CHM_000315" "g.85236757C>T" "" "{PMID:Ramsden SC 2013:23811034}" "" "203G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85981753C>T" "" "pathogenic" "" "0000378148" "20" "99" "X" "85236740" "85236740" "subst" "0" "00110" "CHM_000316" "g.85236740C>G" "" "{PMID:Ramsden SC 2013:23811034}" "" "219+1G>C" "hemizygous" "Germline" "" "" "0" "" "" "g.85981736C>G" "" "pathogenic" "" "0000378149" "20" "99" "X" "85218882" "85218883" "del" "0" "00110" "CHM_000317" "g.85218882_85218883del" "" "{PMID:Ramsden SC 2013:23811034}" "" "522_523del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963877_85963878del" "" "pathogenic" "" "0000378150" "20" "99" "X" "85218837" "85218840" "del" "0" "00110" "CHM_000318" "g.85218837_85218840del" "" "{PMID:Ramsden SC 2013:23811034}" "" "565_568del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963832_85963835del" "" "pathogenic" "" "0000378151" "20" "99" "X" "85213959" "85213983" "delins" "0" "00110" "CHM_000319" "g.85213959_85213983delinsCTAA" "" "{PMID:Ramsden SC 2013:23811034}" "" "733-1_756delinsTTAG" "hemizygous" "Germline" "" "" "0" "" "" "g.85958954_85958978delinsCTAA" "" "pathogenic" "" "0000378152" "20" "99" "X" "85213926" "85213926" "del" "0" "00110" "CHM_000320" "g.85213926del" "" "{PMID:Ramsden SC 2013:23811034}" "" "789del" "hemizygous" "Germline" "" "" "0" "" "" "g.85958921del" "" "pathogenic" "" "0000378153" "20" "99" "X" "85212981" "85212981" "subst" "0" "00110" "CHM_000322" "g.85212981C>A" "" "{PMID:Ramsden SC 2013:23811034}" "" "850-1G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85957976C>A" "" "pathogenic" "" "0000378154" "20" "99" "X" "85212970" "85212970" "del" "0" "00110" "CHM_000323" "g.85212970del" "" "{PMID:Ramsden SC 2013:23811034}" "" "861del" "hemizygous" "Germline" "" "" "0" "" "" "g.85957965del" "" "pathogenic" "" "0000378155" "20" "99" "X" "85212920" "85212928" "del" "0" "00110" "CHM_000324" "g.85212920_85212928del" "" "{PMID:Ramsden SC 2013:23811034}" "" "902_910del" "hemizygous" "Germline" "" "" "0" "" "" "g.85957915_85957923del" "" "pathogenic" "" "0000378156" "20" "99" "X" "85212869" "85212870" "ins" "0" "00110" "CHM_000325" "g.85212869_85212870insT" "" "{PMID:Ramsden SC 2013:23811034}" "" "960_961insA" "hemizygous" "Germline" "" "" "0" "" "" "g.85957864_85957865insT" "" "pathogenic" "" "0000378157" "20" "99" "X" "85212858" "85212858" "subst" "0" "00110" "CHM_000326" "g.85212858A>G" "" "{PMID:Ramsden SC 2013:23811034}" "" "970+2T>C" "hemizygous" "Germline" "" "" "0" "" "" "g.85957853A>G" "" "pathogenic" "" "0000378158" "20" "99" "X" "85212857" "85212857" "del" "0" "00110" "CHM_000327" "g.85212857del" "" "{PMID:Ramsden SC 2013:23811034}" "" "970+3delA" "hemizygous" "Germline" "" "" "0" "" "" "g.85957852del" "" "pathogenic" "" "0000378159" "20" "99" "X" "85211384" "85211384" "subst" "0" "00110" "CHM_000328" "g.85211384C>T" "" "{PMID:Ramsden SC 2013:23811034}" "" "971-1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85956379C>T" "" "pathogenic" "" "0000378160" "20" "99" "X" "85211249" "85211249" "del" "0" "00110" "CHM_000329" "g.85211249del" "" "{PMID:Ramsden SC 2013:23811034}" "" "1109del" "hemizygous" "Germline" "" "" "0" "" "" "g.85956244del" "" "pathogenic" "" "0000378161" "20" "79" "X" "85211160" "85211163" "delins" "0" "00110" "CHM_000330" "g.85211160_85211163delinsAAA" "" "{PMID:Ramsden SC 2013:23811034}" "" "1191_1194delinsTTT" "hemizygous" "Germline" "" "" "0" "" "" "g.85956155_85956158delinsAAA" "" "likely pathogenic" "" "0000378162" "20" "99" "X" "85166333" "85166334" "del" "0" "00110" "CHM_000331" "g.85166333_85166334del" "" "{PMID:Ramsden SC 2013:23811034}" "" "1209_1210del" "hemizygous" "Germline" "" "" "0" "" "" "g.85911328_85911329del" "" "pathogenic" "" "0000378163" "20" "99" "X" "85156194" "85156194" "subst" "0" "00110" "CHM_000332" "g.85156194C>T" "" "{PMID:Ramsden SC 2013:23811034}" "" "1275-1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85901189C>T" "" "pathogenic" "" "0000378164" "20" "99" "X" "85156174" "85156174" "subst" "0" "00110" "CHM_000333" "g.85156174G>A" "" "{PMID:Ramsden SC 2013:23811034}" "" "1294C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85901169G>A" "" "pathogenic" "" "0000378165" "20" "99" "X" "85156135" "85156138" "del" "0" "00110" "CHM_000334" "g.85156135_85156138del" "" "{PMID:Ramsden SC 2013:23811034}" "" "1330_1333del" "hemizygous" "Germline" "" "" "0" "" "" "g.85901130_85901133del" "" "pathogenic" "" "0000378166" "20" "99" "X" "85156125" "85156125" "dup" "0" "00110" "CHM_000335" "g.85156125dup" "" "{PMID:Ramsden SC 2013:23811034}" "" "1343dupA" "hemizygous" "Germline" "" "" "0" "" "" "g.85901120dup" "" "pathogenic" "" "0000378167" "20" "99" "X" "85156091" "85156091" "subst" "0" "00110" "CHM_000336" "g.85156091G>C" "" "{PMID:Ramsden SC 2013:23811034}" "" "1377C>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85901086G>C" "" "pathogenic" "" "0000378168" "20" "99" "X" "85156089" "85156089" "del" "0" "00110" "CHM_000337" "g.85156089del" "" "{PMID:Ramsden SC 2013:23811034}" "" "1379+1del" "hemizygous" "Germline" "" "" "0" "" "" "g.85901084del" "" "pathogenic" "" "0000378169" "0" "99" "X" "85156089" "85156089" "del" "0" "00110" "CHM_000337" "g.85156089del" "" "" "" "1379+1del" "heterozygous" "Germline" "" "" "0" "" "" "g.85901084del" "" "pathogenic" "" "0000378170" "20" "99" "X" "85155656" "85155656" "subst" "0" "00110" "CHM_000338" "g.85155656G>A" "" "{PMID:Ramsden SC 2013:23811034}" "" "1438C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85900651G>A" "" "pathogenic" "" "0000378171" "20" "99" "X" "85128209" "85128209" "subst" "0" "00110" "CHM_000339" "g.85128209G>A" "" "{PMID:Ramsden SC 2013:23811034}" "" "1648C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85873204G>A" "" "pathogenic" "" "0000378172" "20" "99" "X" "85128064" "85128067" "del" "0" "00110" "CHM_000340" "g.85128064_85128067del" "" "{PMID:Ramsden SC 2013:23811034}" "" "1792_1795del" "hemizygous" "Germline" "" "" "0" "" "" "g.85873059_85873062del" "" "pathogenic" "" "0000378173" "20" "99" "X" "85233853" "85233858" "delins" "0" "00110" "CHM_000341" "g.85233853_85233858delinsTGAAATGACA" "" "{PMID:Cai XB 2016:27739455}" "" "257_262delinsTGTCATTTCA" "hemizygous" "Germline" "" "" "0" "" "" "g.85978849_85978854delinsTGAAATGACA" "" "pathogenic" "" "0000378174" "20" "99" "X" "85213975" "85213975" "dup" "0" "00110" "CHM_000342" "g.85213975dup" "" "{PMID:Cai XB 2016:27739455}" "" "740dup" "hemizygous" "Germline" "" "" "0" "" "" "g.85958970dup" "" "pathogenic" "" "0000378175" "20" "99" "X" "85156174" "85156174" "subst" "0" "00110" "CHM_000343" "g.85156174G>A" "" "{PMID:Simunovic MP 2017:28152124}" "" "1294C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85901169G>A" "" "pathogenic" "" "0000378176" "20" "99" "X" "85236753" "85236753" "del" "0" "00110" "CHM_000344" "g.85236753del" "" "{PMID:Freund 2016:27247961}" "" "209del" "hemizygous" "Germline" "" "" "0" "" "" "g.85981749del" "" "pathogenic" "" "0000378177" "20" "99" "X" "85212915" "85212915" "del" "0" "00110" "CHM_000345" "g.85212915del" "" "{PMID:Simunovic MP 2016:27820636}" "" "916del" "hemizygous" "Germline" "" "" "0" "" "" "g.85957910del" "" "pathogenic" "" "0000378178" "20" "99" "X" "85156103" "85156103" "dup" "0" "00110" "CHM_000346" "g.85156103dup" "" "{PMID:Simunovic MP 2016:27820636}" "" "1365dup" "hemizygous" "Germline" "" "" "0" "" "" "g.85901098dup" "" "pathogenic" "" "0000378179" "20" "99" "X" "85211225" "85211226" "ins" "0" "00110" "CHM_000347" "g.85211225_85211226insGTAG" "" "{PMID:Simunovic MP 2016:27820636}" "" "1129_1130insTACC" "hemizygous" "Germline" "" "" "0" "" "" "g.85956220_85956221insGTAG" "" "pathogenic" "" "0000378180" "20" "99" "X" "85218717" "85218717" "subst" "0" "00110" "CHM_000348" "g.85218717G>A" "" "{PMID:Simunovic MP 2016:27820636}" "" "685C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85963712G>A" "" "pathogenic" "" "0000378181" "20" "99" "X" "85218674" "85218674" "subst" "0" "00110" "CHM_000349" "g.85218674G>T" "" "{PMID:Simunovic MP 2016:27820636}" "" "728C>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85963669G>T" "" "pathogenic" "" "0000378182" "20" "99" "X" "0" "0" "" "0" "00110" "CHM_000350" "g.?" "" "{PMID:Edwards TL 2017:28369842}" "" "1-?_146+?dup;1197-?_1540+?dup" "hemizygous; Noncontiguous duplication of exons 1-2 and 9-12" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378183" "20" "99" "X" "85302500" "85302500" "del" "0" "00110" "CHM_000351" "g.85302500del" "" "{PMID:Freund 2016:27247961}" "" "67del" "hemizygous" "Germline" "" "" "0" "" "" "g.86047496del" "" "pathogenic" "" "0000378184" "20" "99" "X" "85302485" "85302485" "subst" "0" "00110" "CHM_000352" "g.85302485T>C" "" "{PMID:Freund 2016:27247961}" "" "79+3A>G" "hemizygous" "Germline" "" "" "0" "" "" "g.86047481T>C" "" "pathogenic" "" "0000378185" "20" "99" "X" "85282494" "85282494" "subst" "0" "00110" "CHM_000353" "g.85282494C>G" "" "{PMID:Freund 2016:27247961}" "" "146+1G>C" "hemizygous" "Germline" "" "" "0" "" "" "g.86027490C>G" "" "pathogenic" "" "0000378186" "20" "99" "X" "85236764" "85236764" "dup" "0" "00110" "CHM_000354" "g.85236764dup" "" "{PMID:Freund 2016:27247961}" "" "197dup" "hemizygous" "Germline" "" "" "0" "" "" "g.85981760dup" "" "pathogenic" "" "0000378187" "20" "99" "X" "85233860" "85233860" "subst" "0" "00110" "CHM_000355" "g.85233860C>T" "" "{PMID:Freund 2016:27247961}" "" "255G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85978856C>T" "" "pathogenic" "" "0000378188" "20" "99" "X" "85211157" "85213983" "del" "0" "00110" "CHM_000356" "g.(85166344_85211157)_(85213983_85218669)del" "" "{PMID:Freund 2016:27247961}" "" "733-?_1196+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378189" "20" "99" "X" "85213866" "85213866" "subst" "0" "00110" "CHM_000357" "g.85213866C>A" "" "{PMID:Freund 2016:27247961}" "" "849G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958861C>A" "" "pathogenic" "" "0000378190" "20" "99" "X" "85212949" "85212954" "delins" "0" "00110" "CHM_000358" "g.85212949_85212954delinsATATT" "" "{PMID:Freund 2016:27247961}" "" "876_881delinsAATAT" "hemizygous" "Germline" "" "" "0" "" "" "g.85957944_85957949delinsATATT" "" "pathogenic" "" "0000378191" "20" "99" "X" "85212908" "85212908" "del" "0" "00110" "CHM_000359" "g.85212908del" "" "{PMID:Freund 2016:27247961}" "" "924del" "hemizygous" "Germline" "" "" "0" "" "" "g.85957903del" "" "pathogenic" "" "0000378192" "20" "99" "X" "85155650" "85166344" "del" "0" "00110" "CHM_000360" "g.(85149290_85155650)_(85166344_85211157)del" "" "{PMID:Freund 2016:27247961}" "" "1197-?_1443+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378193" "20" "99" "X" "85166327" "85166327" "del" "0" "00110" "CHM_000361" "g.85166327del" "" "{PMID:Freund 2016:27247961}" "" "1214del" "hemizygous" "Germline" "" "" "0" "" "" "g.85911322del" "" "pathogenic" "" "0000378194" "20" "99" "X" "85166276" "85166276" "subst" "0" "00110" "CHM_000362" "g.85166276C>A" "" "{PMID:Freund 2016:27247961}" "" "1264G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85911271C>A" "" "pathogenic" "" "0000378195" "20" "99" "X" "85155694" "85155694" "subst" "0" "00110" "CHM_000363" "g.85155694A>G" "" "{PMID:Freund 2016:27247961}" "" "1400T>C" "hemizygous" "Germline" "" "" "0" "" "" "g.85900689A>G" "" "pathogenic" "" "0000378196" "20" "99" "X" "85133969" "85134069" "del" "0" "00110" "CHM_000364" "g.(85128218_85133969)_(85134069_85149192)del" "" "{PMID:Freund 2016:27247961}" "" "1511-?_1609+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378197" "20" "99" "X" "85128129" "85128130" "del" "0" "00110" "CHM_000365" "g.85128129_85128130del" "" "{PMID:Freund 2016:27247961}" "" "1727_1728del" "hemizygous" "Germline" "" "" "0" "" "" "g.85873124_85873125del" "" "pathogenic" "" "0000378198" "20" "99" "X" "85156174" "85156174" "subst" "0" "00110" "CHM_000366" "g.85156174G>A" "" "{PMID:Simunovic MP 2017:28152124}" "" "1294C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85901169G>A" "" "pathogenic" "" "0000378199" "20" "99" "X" "85213865" "85213865" "subst" "0" "00110" "CHM_000367" "g.85213865C>T" "" "{PMID:Ramsden SC 2013:23811034}" "" "849+1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85958860C>T" "" "pathogenic" "" "0000378200" "20" "99" "X" "85119817" "85119817" "del" "0" "00110" "CHM_000368" "g.85119817del" "" "{PMID:Xue K 2016:27403996}" "" "1810del" "hemizygous" "Germline" "" "" "0" "" "" "g.85864812del" "" "pathogenic" "" "0000378201" "20" "99" "X" "85213865" "85213865" "subst" "0" "00110" "CHM_000369" "g.85213865C>T" "" "{PMID:Xue K 2016:27403996}" "" "849+1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85958860C>T" "" "pathogenic" "" "0000378202" "20" "99" "X" "85218882" "85218883" "del" "0" "00110" "CHM_000370" "g.85218882_85218883del" "" "{PMID:Xue K 2016:27403996}" "" "522_523del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963877_85963878del" "" "pathogenic" "" "0000378203" "20" "99" "X" "85212920" "85212928" "del" "0" "00110" "CHM_000371" "g.85212920_85212928del" "" "{PMID:Xue K 2016:27403996}" "" "902_910del" "hemizygous" "Germline" "" "" "0" "" "" "g.85957915_85957923del" "" "pathogenic" "" "0000378204" "20" "99" "X" "85218837" "85218840" "del" "0" "00110" "CHM_000372" "g.85218837_85218840del" "" "{PMID:Xue K 2016:27403996}" "" "565_568del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963832_85963835del" "" "pathogenic" "" "0000378205" "20" "99" "X" "85213865" "85213865" "subst" "0" "00110" "CHM_000373" "g.85213865C>A" "" "{PMID:Xue K 2016:27403996}" "" "819+1G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85958860C>A" "" "pathogenic" "" "0000378206" "0" "99" "X" "85212902" "85212902" "dup" "0" "00110" "CHM_000374" "g.85212902dup" "" "{PMID:Jain N 2016:27149258}" "" "928dup" "heterozygous" "Germline" "" "" "0" "" "" "g.85957897dup" "" "pathogenic" "" "0000378207" "20" "99" "X" "85211353" "85211353" "subst" "0" "00110" "CHM_000375" "g.85211353A>C" "" "{PMID:Jain N 2016:27149258}" "" "1001T>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85956348A>C" "" "pathogenic" "" "0000378208" "20" "99" "X" "85166344" "85166344" "subst" "0" "00110" "CHM_000376" "g.85166344C>A" "" "{PMID:Sanchez-Alcudia R 2016:27070432}" "" "1197-1G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85911339C>A" "" "pathogenic" "" "0000378209" "20" "99" "X" "85166345" "85166345" "subst" "0" "00110" "CHM_000377" "g.85166345T>C" "" "{PMID:Sanchez-Alcudia R 2016:27070432}" "" "1197-2A>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85911340T>C" "" "pathogenic" "" "0000378210" "20" "99" "X" "85218813" "85218814" "del" "0" "00110" "CHM_000378" "g.85218813_85218814del" "" "{PMID:Li S 2014:24913019}" "" "588_589delTT" "hemizygous" "Germline" "" "" "0" "" "" "g.85963808_85963809del" "" "pathogenic" "" "0000378211" "20" "99" "X" "85213983" "85213983" "subst" "0" "00110" "CHM_000379" "g.85213983C>T" "" "{PMID:Li S 2014:24913019}" "" "733-1G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85958978C>T" "" "pathogenic" "" "0000378212" "20" "99" "X" "85211359" "85211359" "del" "0" "00110" "CHM_000380" "g.85211359del" "" "{PMID:Li S 2014:24913019}" "" "996delA" "hemizygous" "Germline" "" "" "0" "" "" "g.85956354del" "" "pathogenic" "" "0000378213" "20" "99" "X" "85211360" "85211360" "subst" "0" "00110" "CHM_000381" "g.85211360C>A" "" "{PMID:Li S 2014:24913019}" "" "964G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85956355C>A" "" "pathogenic" "" "0000378214" "20" "99" "X" "85211156" "85211156" "subst" "0" "00110" "CHM_000382" "g.85211156A>C" "" "{PMID:Li S 2014:24913019}" "" "1196+2T>G" "hemizygous" "Germline" "" "" "0" "" "" "g.85956151A>C" "" "pathogenic" "" "0000378215" "20" "99" "X" "85128109" "85128110" "del" "0" "00110" "CHM_000383" "g.85128109_85128110del" "" "{PMID:Shimizu 2015:26327910}" "" "1748_1749del" "hemizygous" "Germline" "" "" "0" "" "" "g.85873104_85873105del" "" "pathogenic" "" "0000378216" "20" "99" "X" "85149227" "85149228" "ins" "0" "00110" "CHM_000384" "g.85149227_85149228insTG" "" "{PMID:Guo H 2015:26216097}" "" "1505_1506insCA" "hemizygous" "Germline" "" "" "0" "" "" "g.85894222_85894223insTG" "" "pathogenic" "" "0000378217" "20" "99" "X" "85213864" "85213864" "subst" "0" "00110" "CHM_000385" "g.85213864A>T" "" "{PMID:Contestabile MT 2014:24672218}" "" "849+2T>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85958859A>T" "" "pathogenic" "" "0000378218" "20" "99" "X" "85212938" "85212938" "dup" "0" "00110" "CHM_000386" "g.85212938dup" "" "{PMID:Sanchez-Alcudia R 2016:27070432}" "" "892dupA" "hemizygous" "Germline" "" "" "0" "" "" "g.85957933dup" "" "pathogenic" "" "0000378219" "20" "99" "X" "85282495" "85282495" "subst" "0" "00110" "CHM_000387" "g.85282495G>T" "" "{PMID:Sanchez-Alcudia R 2016:27070432}" "" "146C>A" "hemizygous" "Germline" "" "" "0" "" "" "g.86027491G>T" "" "pathogenic" "" "0000378220" "20" "99" "X" "85236789" "85236789" "subst" "0" "00110" "CHM_000388" "g.85236789C>T" "" "{PMID:Sanchez-Alcudia R 2016:27070432}" "" "171G>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85981785C>T" "" "pathogenic" "" "0000378221" "20" "99" "X" "85128124" "85128124" "subst" "0" "00110" "CHM_000389" "g.85128124A>T" "" "{PMID:Sanchez-Alcudia R 2016:27070432}" "" "1733T>A" "hemizygous" "Germline" "" "" "0" "" "" "g.85873119A>T" "" "pathogenic" "" "0000378222" "20" "99" "X" "85302488" "85302488" "subst" "0" "00110" "CHM_000390" "g.85302488C>A" "" "{PMID:Sanchez-Alcudia R 2016:27070432}" "" "79G>T" "hemizygous; Likely affects splicing" "Germline" "" "" "0" "" "" "g.86047484C>A" "" "pathogenic" "" "0000378223" "20" "99" "X" "85282494" "85282562" "del" "0" "00110" "CHM_000391" "g.(85236814_85282494)_(85282562_85302487)del" "" "{PMID:Sanchez-Alcudia R 2016:27070432}" "" "80-?_146+?del" "hemizygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000378224" "20" "99" "X" "85218882" "85218883" "del" "0" "00110" "CHM_000392" "g.85218882_85218883del" "" "{PMID:Jolly JK 2015:26133251}" "" "522_523del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963877_85963878del" "" "pathogenic" "" "0000378225" "20" "99" "X" "85156174" "85156174" "subst" "0" "00110" "CHM_000393" "g.85156174G>A" "" "{PMID:Jolly JK 2015:26133251}" "" "1294C>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85901169G>A" "" "pathogenic" "" "0000378226" "20" "99" "X" "85282530" "85282530" "del" "0" "00110" "CHM_000394" "g.85282530del" "" "{PMID:Cideciyan AV 2015:26024124}" "" "112del" "hemizygous" "Germline" "" "" "0" "" "" "g.86027526del" "" "pathogenic" "" "0000378227" "20" "99" "X" "85236797" "85236806" "dup" "0" "00110" "CHM_000395" "g.85236797_85236806dup" "" "{PMID:Seitz 2015:25744334}" "" "154_163dup" "hemizygous" "Germline" "" "" "0" "" "" "g.85981793_85981802dup" "" "pathogenic" "" "0000378228" "20" "99" "X" "85218756" "85218756" "dup" "0" "00110" "CHM_000396" "g.85218756dup" "" "{PMID:Seitz 2015:25744334}" "" "646dup" "hemizygous" "Germline" "" "" "0" "" "" "g.85963751dup" "" "pathogenic" "" "0000378229" "20" "99" "X" "85211384" "85211384" "subst" "0" "00110" "CHM_000397" "g.85211384C>A" "" "{PMID:Seitz 2015:25744334}" "" "971-1G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85956379C>A" "" "pathogenic" "" "0000378230" "21" "99" "X" "85211288" "85211288" "subst" "0" "00110" "CHM_000398" "g.85211288C>A" "" "{PMID:Seitz 2015:25744334}" "" "1066G>T" "hemizygous" "Germline" "" "" "0" "" "" "g.85956283C>A" "" "pathogenic" "" "0000378231" "20" "99" "X" "85211207" "85211208" "del" "0" "00110" "CHM_000399" "g.85211207_85211208del" "" "{PMID:Seitz 2015:25744334}" "" "1146_1147del" "hemizygous" "Germline" "" "" "0" "" "" "g.85956202_85956203del" "" "pathogenic" "" "0000378232" "20" "99" "X" "85218728" "85218728" "del" "0" "00110" "CHM_000400" "g.85218728del" "" "{PMID:Seitz 2015:25744334}" "" "675del" "hemizygous" "Germline" "" "" "0" "" "" "g.85963723del" "" "pathogenic" "" "0000378233" "20" "99" "X" "85149227" "85149228" "dup" "0" "00110" "CHM_000401" "g.85149227_85149228dup" "" "{PMID:Seitz 2015:25744334}" "" "1506_1507dup" "hemizygous" "Germline" "" "" "0" "" "" "g.85894222_85894223dup" "" "pathogenic" "" "0000378234" "0" "99" "X" "85211249" "85211249" "del" "0" "00110" "CHM_000402" "g.85211249del" "" "{PMID:Edwards TL 2015:25682176}" "" "1109del" "heterozygous" "Germline" "" "" "0" "" "" "g.85956244del" "" "pathogenic" "" "0000378235" "0" "99" "X" "85156091" "85156091" "subst" "0" "00110" "CHM_000403" "g.85156091G>C" "" "{PMID:Edwards TL 2015:25682176}" "" "1377C>G" "heterozygous" "Germline" "" "" "0" "" "" "g.85901086G>C" "" "pathogenic" "" "0000378236" "0" "99" "X" "85212857" "85212857" "del" "0" "00110" "CHM_000404" "g.85212857del" "" "{PMID:Edwards TL 2015:25682176}" "" "970+3delA" "heterozygous" "Germline" "" "" "0" "" "" "g.85957852del" "" "pathogenic" "" "0000378237" "0" "99" "X" "85213959" "85213983" "delins" "0" "00110" "CHM_000405" "g.85213959_85213983delinsCTAA" "" "{PMID:Edwards TL 2015:25682176}" "" "733-1_756delinsTTAG" "heterozygous" "Germline" "" "" "0" "" "" "g.85958954_85958978delinsCTAA" "" "pathogenic" "" "0000378238" "20" "99" "X" "85302485" "85302485" "del" "0" "00110" "CHM_000406" "g.85302485del" "" "{PMID:Edwards TL 2015:25592124}" "" "79+3del" "hemizygous" "Germline" "" "" "0" "" "" "g.86047481del" "" "pathogenic" "" "0000378239" "21" "99" "X" "85156135" "85156138" "del" "0" "00110" "CHM_000407" "g.85156135_85156138del" "" "{PMID:Zinkernagel MS 2013:23562166}" "" "1330_1333del" "hemizygous" "Germline" "" "" "0" "" "" "g.85901130_85901133del" "" "pathogenic" "" "0000378240" "20" "99" "X" "85211249" "85211249" "del" "0" "00110" "CHM_000408" "g.85211249del" "" "{PMID:Zinkernagel MS 2013:23562166}" "" "1109del" "hemizygous" "Germline" "" "" "0" "" "" "g.85956244del" "" "pathogenic" "" "0000378241" "20" "99" "X" "85212981" "85212981" "subst" "0" "00110" "CHM_000410" "g.85212981C>G" "" "{PMID:Battu R 2016:28112135}" "" "850-1G>C" "hemizygous" "Germline" "" "" "0" "" "" "g.85957976C>G" "" "pathogenic" "" "0000378242" "20" "99" "X" "85236739" "85236747" "del" "0" "00110" "CHM_000411" "g.85236739_85236747del" "" "{PMID:Bae K et. al., 2017:28643494}" "" "214_219+3delTACCAGGTA" "hemizygous" "Germline" "" "" "0" "" "" "g.85981735_85981743del" "" "pathogenic" "" "0000499067" "0" "90" "X" "85156089" "85156089" "subst" "0" "03351" "CHM_000304" "g.85156089C>T" "" "" "" "AG(G)>AA(G)" "" "Germline" "" "" "0" "" "" "g.85901084C>T" "" "pathogenic" "" "0000499068" "0" "90" "X" "85211290" "85211290" "subst" "0" "03351" "CHM_000057" "g.85211290G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85956285G>C" "" "pathogenic" "" "0000499069" "0" "90" "X" "85211186" "85211186" "subst" "0" "03351" "CHM_000059" "g.85211186G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85956181G>A" "" "pathogenic" "" "0000499070" "0" "90" "X" "85211180" "85211180" "subst" "5.61994E-6" "03351" "CHM_000299" "g.85211180C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85956175C>A" "" "pathogenic" "" "0000499071" "20" "90" "X" "85211180" "85211180" "subst" "5.61994E-6" "03351" "CHM_000299" "g.85211180C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85956175C>A" "" "pathogenic" "" "0000499072" "20" "90" "X" "85282494" "85282494" "subst" "0" "03351" "CHM_000009" "g.85282494C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86027490C>T" "" "pathogenic" "" "0000499073" "20" "90" "X" "85282494" "85282494" "subst" "0" "03351" "CHM_000353" "g.85282494C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86027490C>G" "" "pathogenic" "" "0000499074" "20" "90" "X" "85282494" "85282494" "subst" "0" "03351" "CHM_000114" "g.85282494C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86027490C>A" "" "pathogenic" "" "0000499075" "20" "90" "X" "85236814" "85236814" "subst" "0" "03351" "CHM_000486" "g.85236814C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85981810C>T" "" "pathogenic" "" "0000499076" "0" "90" "X" "85166327" "85166327" "del" "0" "03351" "CHM_000361" "g.85166327del" "" "" "" "1184delG" "" "Germline" "" "" "0" "" "" "g.85911322del" "" "pathogenic" "" "0000499077" "21" "90" "X" "85166327" "85166327" "del" "0" "03351" "CHM_000361" "g.85166327del" "" "" "" "1184delG" "" "Germline" "" "" "0" "" "" "g.85911322del" "" "pathogenic" "" "0000499078" "0" "90" "X" "85166316" "85166316" "subst" "0" "03351" "CHM_000131" "g.85166316A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85911311A>C" "" "pathogenic" "" "0000499079" "21" "90" "X" "85166316" "85166316" "subst" "0" "03351" "CHM_000131" "g.85166316A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85911311A>C" "" "pathogenic" "" "0000499080" "20" "90" "X" "85166297" "85166297" "subst" "0" "03351" "CHM_000260" "g.85166297G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85911292G>A" "" "pathogenic" "" "0000499081" "20" "90" "X" "85166276" "85166276" "subst" "0" "03351" "CHM_000362" "g.85166276C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85911271C>A" "" "pathogenic" "" "0000499082" "20" "90" "X" "85236804" "85236804" "subst" "0" "03351" "CHM_000485" "g.85236804G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85981800G>T" "" "pathogenic" "" "0000499083" "20" "90" "X" "85156096" "85156096" "subst" "0" "03351" "CHM_000476" "g.85156096G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85901091G>A" "" "pathogenic" "" "0000499084" "20" "90" "X" "85149289" "85149290" "delins" "0" "03351" "CHM_000303" "g.85149289_85149290delinsAT" "" "" "" "1414-1_1414delGAinsAT" "" "Germline" "" "" "0" "" "" "g.85894284_85894285delinsAT" "" "pathogenic" "" "0000499085" "20" "90" "X" "85149266" "85149266" "dup" "0" "03351" "CHM_000297" "g.85149266dup" "" "" "" "1437dupA" "" "Germline" "" "" "0" "" "" "g.85894261dup" "" "pathogenic" "" "0000499086" "20" "90" "X" "85149222" "85149229" "del" "0" "03351" "CHM_000473" "g.85149222_85149229del" "" "" "" "1476_1483delATGTTCTT" "" "Germline" "" "" "0" "" "" "g.85894217_85894224del" "" "pathogenic" "" "0000499087" "20" "90" "X" "85134059" "85134059" "subst" "0" "03351" "CHM_000120" "g.85134059T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85879054T>C" "" "pathogenic" "" "0000499088" "20" "90" "X" "85133997" "85134000" "del" "0" "03351" "CHM_000083" "g.85133997_85134000del" "" "" "" "1584_1587delTGTT" "" "Germline" "" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic" "" "0000499089" "20" "90" "X" "85128184" "85128184" "subst" "0" "03351" "CHM_000470" "g.85128184C>T" "" "" "" "TGG>TAG" "" "Germline" "" "" "0" "" "" "g.85873179C>T" "" "pathogenic" "" "0000499090" "20" "90" "X" "85128157" "85128157" "subst" "0" "03351" "CHM_000259" "g.85128157G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85873152G>T" "" "pathogenic" "" "0000499091" "20" "90" "X" "85236764" "85236764" "dup" "0" "03351" "CHM_000354" "g.85236764dup" "" "" "" "167dupT" "" "Germline" "" "" "0" "" "" "g.85981760dup" "" "pathogenic" "" "0000499092" "0" "50" "X" "85128129" "85128130" "del" "0" "03351" "CHM_000365" "g.85128129_85128130del" "" "" "" "1697_1698delAT" "" "Germline" "" "" "0" "" "" "g.85873124_85873125del" "" "VUS" "" "0000499093" "20" "90" "X" "85233897" "85233897" "subst" "0" "03351" "CHM_000014" "g.85233897T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85978893T>C" "" "pathogenic" "" "0000499094" "20" "90" "X" "85233860" "85233860" "subst" "0" "03351" "CHM_000355" "g.85233860C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85978856C>T" "" "pathogenic" "" "0000499095" "21" "90" "X" "85233860" "85233860" "subst" "0" "03351" "CHM_000355" "g.85233860C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85978856C>T" "" "pathogenic" "" "0000499096" "20" "90" "X" "85302509" "85302512" "delins" "0" "03351" "CHM_000282" "g.85302509_85302512delinsTTACTATTACT" "" "" "" "25_28del4ins12" "" "Germline" "" "" "0" "" "" "g.86047505_86047508delinsTTACTATTACT" "" "pathogenic" "" "0000499097" "20" "90" "X" "85219056" "85219056" "subst" "0" "03351" "CHM_000020" "g.85219056G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85964051G>A" "" "pathogenic" "" "0000499098" "21" "90" "X" "85219056" "85219056" "subst" "0" "03351" "CHM_000020" "g.85219056G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85964051G>A" "" "pathogenic" "" "0000499099" "20" "90" "X" "0" "0" "delins" "0" "03351" "CHM_000483" "g.?" "" "" "" "368_702+58del393ins222" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000499100" "20" "90" "X" "85302500" "85302500" "del" "0" "03351" "CHM_000351" "g.85302500del" "" "" "" "37delG" "" "Germline" "" "" "0" "" "" "g.86047496del" "" "pathogenic" "" "0000499101" "20" "90" "X" "85302534" "85302534" "subst" "0" "03351" "CHM_000128" "g.85302534C>T" "" "" "" "Met1?" "" "Germline" "" "" "0" "" "" "g.86047530C>T" "" "pathogenic" "" "0000499102" "20" "90" "X" "85302485" "85302485" "subst" "0" "03351" "CHM_000352" "g.85302485T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86047481T>C" "" "pathogenic" "" "0000499103" "20" "90" "X" "85218846" "85218847" "del" "0" "03351" "CHM_000022" "g.85218846_85218847del" "" "" "" "525_526delAG" "" "Germline" "" "" "0" "" "" "g.85963841_85963842del" "" "pathogenic" "" "0000499104" "20" "90" "X" "85218738" "85218738" "subst" "0" "03351" "CHM_000484" "g.85218738T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85963733T>A" "" "pathogenic" "" "0000499105" "20" "90" "X" "85218719" "85218719" "subst" "0" "03351" "CHM_000247" "g.85218719G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85963714G>C" "" "pathogenic" "" "0000499106" "21" "90" "X" "85218719" "85218719" "subst" "0" "03351" "CHM_000247" "g.85218719G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85963714G>C" "" "pathogenic" "" "0000499107" "20" "90" "X" "85218672" "85218672" "subst" "0" "03351" "CHM_000127" "g.85218672T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85963667T>A" "" "pathogenic" "" "0000499108" "20" "90" "X" "85213970" "85213970" "subst" "5.61126E-6" "03351" "CHM_000037" "g.85213970G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85958965G>A" "" "pathogenic" "" "0000499109" "20" "90" "X" "85213970" "85213970" "subst" "5.61126E-6" "03351" "CHM_000037" "g.85213970G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85958965G>A" "" "pathogenic" "" "0000499110" "21" "90" "X" "85213928" "85213928" "subst" "0" "03351" "CHM_000040" "g.85213928G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000499111" "21" "90" "X" "85213928" "85213928" "subst" "0" "03351" "CHM_000040" "g.85213928G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000499112" "20" "90" "X" "85213886" "85213886" "subst" "0" "03351" "CHM_000043" "g.85213886G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85958881G>A" "" "pathogenic" "" "0000499113" "20" "90" "X" "85213877" "85213877" "subst" "0" "03351" "CHM_000044" "g.85213877G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85958872G>A" "" "pathogenic" "" "0000499114" "20" "90" "X" "85213868" "85213868" "subst" "0" "03351" "CHM_000126" "g.85213868G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85958863G>A" "" "pathogenic" "" "0000499115" "20" "90" "X" "85213866" "85213866" "subst" "0" "03351" "CHM_000357" "g.85213866C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85958861C>A" "" "pathogenic" "" "0000499116" "20" "90" "X" "85282530" "85282530" "del" "0" "03351" "CHM_000394" "g.85282530del" "" "" "" "82delT" "" "Germline" "" "" "0" "" "" "g.86027526del" "" "pathogenic" "" "0000499117" "20" "90" "X" "85212923" "85212923" "subst" "0" "03351" "CHM_000048" "g.85212923G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85957918G>A" "" "pathogenic" "" "0000499118" "0" "90" "X" "85212911" "85212911" "subst" "0" "03351" "CHM_000284" "g.85212911T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85957906T>A" "" "pathogenic" "" "0000499119" "0" "90" "X" "85212908" "85212908" "del" "0" "03351" "CHM_000359" "g.85212908del" "" "" "" "894delT" "" "Germline" "" "" "0" "" "" "g.85957903del" "" "pathogenic" "" "0000499120" "0" "90" "X" "85212908" "85212908" "del" "0" "03351" "CHM_000359" "g.85212908del" "" "" "" "894delT" "" "Germline" "" "" "0" "" "" "g.85957903del" "" "pathogenic" "" "0000499121" "0" "90" "X" "85212890" "85212890" "subst" "0" "03351" "CHM_000302" "g.85212890C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85957885C>A" "" "pathogenic" "" "0000499122" "0" "90" "X" "85211355" "85211355" "subst" "0" "03351" "CHM_000145" "g.85211355A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85956350A>T" "" "pathogenic" "" "0000499123" "0" "90" "X" "85211355" "85211355" "del" "0" "03351" "CHM_000479" "g.85211355del" "" "" "" "971delT" "" "Germline" "" "" "0" "" "" "g.85956350del" "" "pathogenic" "" "0000499124" "0" "90" "X" "85211355" "85211355" "del" "0" "03351" "CHM_000479" "g.85211355del" "" "" "" "971delT" "" "Germline" "" "" "0" "" "" "g.85956350del" "" "pathogenic" "" "0000499125" "0" "90" "X" "85211344" "85211344" "del" "0" "03351" "CHM_000478" "g.85211344del" "" "" "" "984delA" "" "Germline" "" "" "0" "" "" "g.85956339del" "" "pathogenic" "" "0000499126" "0" "90" "X" "85211335" "85211335" "del" "0" "03351" "CHM_000165" "g.85211335del" "" "" "" "993delC" "" "Germline" "" "" "0" "" "" "g.85956330del" "" "pathogenic" "" "0000499127" "0" "90" "X" "85213928" "85213928" "subst" "0" "03351" "CHM_000040" "g.85213928G>A" "" "" "" "CGA>TGA" "" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000499140" "0" "90" "X" "85211180" "85211180" "subst" "5.61994E-6" "03351" "CHM_000299" "g.85211180C>A" "" "" "" "GAA>TAA" "" "Germline" "" "" "0" "" "" "g.85956175C>A" "" "pathogenic" "" "0000499141" "0" "90" "X" "85302487" "85302487" "subst" "0" "03351" "CHM_000487" "g.85302487C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86047483C>G" "" "pathogenic" "" "0000499142" "0" "90" "X" "85302487" "85302487" "subst" "0" "03351" "CHM_000487" "g.85302487C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86047483C>G" "" "pathogenic" "" "0000499143" "0" "90" "X" "85302486" "85302486" "dup" "0" "03351" "CHM_000311" "g.85302486dup" "" "" "" "49+2dupT" "" "Germline" "" "" "0" "" "" "g.86047482dup" "" "pathogenic" "" "0000499144" "0" "90" "X" "85155716" "85155716" "subst" "0" "03351" "CHM_000474" "g.85155716T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85900711T>G" "" "pathogenic" "" "0000499145" "0" "90" "X" "85134069" "85134069" "subst" "0" "03351" "CHM_000246" "g.85134069C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85879064C>T" "" "pathogenic" "" "0000499146" "0" "90" "X" "85233897" "85233897" "subst" "0" "03351" "CHM_000014" "g.85233897T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85978893T>C" "" "pathogenic" "" "0000499147" "0" "50" "X" "85133997" "85134000" "del" "0" "03351" "CHM_000083" "g.85133997_85134000del" "" "" "" "p.Leu527del4aaaTTGT" "" "Germline" "" "" "0" "" "" "g.85878992_85878995del" "" "VUS" "" "0000499148" "0" "50" "X" "85282283" "85282284" "ins" "0" "03351" "CHM_000160" "g.85282283_85282284insGAAAG" "" "3078127" "" "116+215_216insCCTTT" "" "Germline" "" "" "0" "" "" "g.86027279_86027280insGAAAG" "" "VUS" "" "0000499149" "0" "50" "X" "85282283" "85282284" "ins" "0" "03351" "CHM_000160" "g.85282283_85282284insGAAAG" "" "3078127" "" "116+215insCCTTT" "" "Germline" "" "" "0" "" "" "g.86027279_86027280insGAAAG" "" "VUS" "" "0000499150" "0" "50" "X" "85282283" "85282284" "ins" "0" "03351" "CHM_000160" "g.85282283_85282284insGAAAG" "" "3078127" "" "116+215insCCTTT" "" "Germline" "" "" "0" "" "" "g.86027279_86027280insGAAAG" "" "VUS" "" "0000499151" "0" "50" "X" "85282283" "85282284" "ins" "0" "03351" "CHM_000160" "g.85282283_85282284insGAAAG" "" "3078127" "" "116+215insCCTTT" "" "Germline" "" "" "0" "" "" "g.86027279_86027280insGAAAG" "" "VUS" "" "0000499152" "0" "50" "X" "85282415" "85282415" "subst" "0" "03351" "CHM_000161" "g.85282415G>A" "" "1015148" "" "" "" "Germline" "" "" "0" "" "" "g.86027411G>A" "" "VUS" "" "0000499153" "0" "50" "X" "85282415" "85282415" "subst" "0" "03351" "CHM_000161" "g.85282415G>A" "" "1015148" "" "" "" "Germline" "" "" "0" "" "" "g.86027411G>A" "" "VUS" "" "0000499154" "0" "50" "X" "85155694" "85155694" "subst" "0" "03351" "CHM_000239" "g.85155694A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85900689A>G" "" "VUS" "" "0000499155" "0" "50" "X" "85149414" "85149414" "subst" "0" "03351" "CHM_000146" "g.85149414G>C" "" "1569506" "" "" "" "Germline" "" "" "0" "" "" "g.85894409G>C" "" "VUS" "" "0000499156" "0" "50" "X" "85149414" "85149414" "subst" "0" "03351" "CHM_000146" "g.85149414G>C" "" "1569506" "" "" "" "Germline" "" "" "0" "" "" "g.85894409G>C" "" "VUS" "" "0000499157" "0" "50" "X" "85149414" "85149414" "subst" "0" "03351" "CHM_000146" "g.85149414G>C" "" "1569506" "" "" "" "Germline" "" "" "0" "" "" "g.85894409G>C" "" "VUS" "" "0000499158" "0" "50" "X" "85282415" "85282415" "subst" "0" "03351" "CHM_000161" "g.85282415G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86027411G>A" "" "VUS" "" "0000499159" "0" "50" "X" "85282415" "85282415" "subst" "0" "03351" "CHM_000161" "g.85282415G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86027411G>A" "" "VUS" "" "0000499160" "0" "50" "X" "85219021" "85219021" "subst" "0.187713" "03351" "CHM_000004" "g.85219021T>C" "" "10217950" "" "" "" "Germline" "" "" "0" "" "" "g.85964016T>C" "" "VUS" "" "0000499161" "0" "50" "X" "85219021" "85219021" "subst" "0.187713" "03351" "CHM_000004" "g.85219021T>C" "" "10217950" "" "" "" "Germline" "" "" "0" "" "" "g.85964016T>C" "" "VUS" "" "0000499162" "0" "50" "X" "85218260" "85218260" "subst" "0" "03351" "CHM_000481" "g.85218260T>C" "" "17252397" "" "" "" "Germline" "" "" "0" "" "" "g.85963255T>C" "" "VUS" "" "0000499163" "0" "50" "X" "85218599" "85218599" "subst" "0" "03351" "CHM_000482" "g.85218599G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85963594G>A" "" "VUS" "" "0000499164" "0" "50" "X" "85149414" "85149414" "subst" "0" "03351" "CHM_000146" "g.85149414G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85894409G>C" "" "VUS" "" "0000499165" "0" "50" "X" "85149414" "85149414" "subst" "0" "03351" "CHM_000146" "g.85149414G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85894409G>C" "" "VUS" "" "0000499166" "0" "50" "X" "85282415" "85282415" "subst" "0" "03351" "CHM_000161" "g.85282415G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86027411G>A" "" "VUS" "" "0000499167" "0" "50" "X" "85213052" "85213052" "subst" "0" "03351" "CHM_000480" "g.85213052T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85958047T>C" "" "VUS" "" "0000499168" "0" "50" "X" "85156111" "85156111" "subst" "0" "03351" "CHM_000477" "g.85156111T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85901106T>C" "" "VUS" "" "0000499169" "0" "50" "X" "85155694" "85155694" "subst" "0" "03351" "CHM_000239" "g.85155694A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85900689A>G" "" "VUS" "" "0000499170" "0" "50" "X" "85155694" "85155694" "subst" "0" "03351" "CHM_000239" "g.85155694A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85900689A>G" "" "VUS" "" "0000499171" "0" "50" "X" "85133970" "85133970" "subst" "0" "03351" "CHM_000471" "g.85133970C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85878965C>G" "" "VUS" "" "0000499172" "0" "50" "X" "85128178" "85128178" "subst" "0" "03351" "CHM_000124" "g.85128178A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85873173A>G" "" "VUS" "" "0000499173" "0" "50" "X" "85128178" "85128178" "subst" "0" "03351" "CHM_000124" "g.85128178A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85873173A>G" "" "VUS" "" "0000499174" "0" "50" "X" "85233847" "85233847" "subst" "0.00258011" "03351" "CHM_000418" "g.85233847G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85978843G>A" "" "VUS" "" "0000499175" "0" "50" "X" "85134046" "85134046" "dup" "0" "03351" "CHM_000472" "g.85134046dup" "" "" "" "ins1acA (Thr511)" "" "Germline" "" "" "0" "" "" "g.85879041dup" "" "VUS" "" "0000499176" "0" "50" "X" "85155727" "85155731" "del" "0" "03351" "CHM_000475" "g.85155727_85155731del" "" "" "" "IVS10-(14_10)deltttgt" "" "Germline" "" "" "0" "" "" "g.85900722_85900726del" "" "VUS" "" "0000577720" "0" "50" "X" "85119664" "85119675" "dup" "0" "02330" "CHM_000467" "g.85119664_85119675dup" "" "" "" "CHM(NM_000390.2):c.1933_1934insAAAGCACAAACC (p.(Asn644_Leu645insGlnSerThrAsn)), CHM(NM_000390.4):c.1922_1933dupAAAGCACAAACC (p.N644_L645insQSTN)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85864659_85864670dup" "" "VUS" "" "0000577722" "0" "10" "X" "85128186" "85128186" "subst" "0.00221908" "02330" "CHM_000154" "g.85128186C>A" "" "" "" "CHM(NM_000390.2):c.1641G>T (p.L547=), CHM(NM_000390.4):c.1641G>T (p.L547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85873181C>A" "" "benign" "" "0000577723" "0" "30" "X" "85128186" "85128186" "subst" "0.00221908" "01943" "CHM_000154" "g.85128186C>A" "" "" "" "CHM(NM_000390.2):c.1641G>T (p.L547=), CHM(NM_000390.4):c.1641G>T (p.L547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85873181C>A" "" "likely benign" "" "0000577724" "0" "90" "X" "85134006" "85134006" "subst" "0" "02327" "CHM_000489" "g.85134006G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85879001G>A" "" "pathogenic" "" "0000577725" "0" "30" "X" "85134082" "85134082" "subst" "6.72188E-6" "02330" "CHM_000490" "g.85134082A>T" "" "" "" "CHM(NM_000390.4):c.1511-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85879077A>T" "" "likely benign" "" "0000577726" "0" "50" "X" "85149199" "85149199" "subst" "0" "01943" "CHM_000491" "g.85149199C>T" "" "" "" "CHM(NM_000390.2):c.1504G>A (p.G502S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85894194C>T" "" "VUS" "" "0000577727" "0" "90" "X" "85149202" "85149202" "del" "0" "01943" "CHM_000492" "g.85149202del" "" "" "" "CHM(NM_000390.2):c.1503delA (p.G502Afs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85894197del" "" "pathogenic" "" "0000577728" "0" "30" "X" "85156079" "85156079" "subst" "0.000685675" "01943" "CHM_000493" "g.85156079G>A" "" "" "" "CHM(NM_000390.2):c.1349+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85901074G>A" "" "likely benign" "" "0000577729" "0" "50" "X" "85156083" "85156083" "subst" "0" "01943" "CHM_000494" "g.85156083C>T" "" "" "" "CHM(NM_000390.2):c.1349+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85901078C>T" "" "VUS" "" "0000577731" "0" "30" "X" "85156203" "85156205" "del" "0" "01943" "CHM_000430" "g.85156203_85156205del" "" "" "" "CHM(NM_000390.2):c.1245-8_1245-6delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85901198_85901200del" "" "likely benign" "" "0000577732" "0" "50" "X" "85211300" "85211300" "subst" "0" "01943" "CHM_000496" "g.85211300C>T" "" "" "" "CHM(NM_000390.2):c.1024G>A (p.A342T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85956295C>T" "" "VUS" "" "0000577733" "0" "90" "X" "85212859" "85212864" "del" "0" "02327" "CHM_000497" "g.85212859_85212864del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85957854_85957859del" "" "pathogenic" "" "0000577734" "0" "50" "X" "85212938" "85212938" "subst" "5.63752E-6" "02330" "CHM_000498" "g.85212938T>G" "" "" "" "CHM(NM_000390.4):c.862A>C (p.T288P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85957933T>G" "" "VUS" "" "0000577735" "0" "50" "X" "85213942" "85213942" "subst" "1.1208E-5" "01943" "CHM_000499" "g.85213942T>G" "" "" "" "CHM(NM_000390.2):c.743A>C (p.K248T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85958937T>G" "" "VUS" "" "0000577736" "0" "50" "X" "85213969" "85213969" "subst" "1.12223E-5" "02330" "CHM_000500" "g.85213969C>T" "" "" "" "CHM(NM_000390.4):c.716G>A (p.R239Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85958964C>T" "" "VUS" "" "0000577738" "0" "90" "X" "85236740" "85236740" "subst" "0" "02327" "CHM_000012" "g.85236740C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85981736C>T" "" "pathogenic" "" "0000577740" "0" "10" "X" "85236840" "85236840" "dup" "0" "02330" "CHM_000501" "g.85236840dup" "" "" "" "CHM(NM_000390.4):c.117-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85981836dup" "" "benign" "" "0000577741" "0" "90" "X" "85282493" "85282493" "subst" "0" "02330" "CHM_000502" "g.85282493A>G" "" "" "" "CHM(NM_000390.4):c.116+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86027489A>G" "" "pathogenic" "" "0000577742" "0" "90" "X" "85282495" "85282495" "subst" "0" "02330" "CHM_000387" "g.85282495G>T" "" "" "" "CHM(NM_000390.4):c.116C>A (p.S39*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86027491G>T" "" "pathogenic" "" "0000577743" "0" "50" "X" "85282561" "85282561" "subst" "0" "02327" "CHM_000503" "g.85282561C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86027557C>G" "" "VUS" "" "0000619947" "0" "90" "X" "85213870" "85213870" "del" "0" "02327" "CHM_000505" "g.85213870del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85958865del" "" "pathogenic" "" "0000619948" "0" "90" "X" "85213937" "85213937" "del" "0" "02327" "CHM_000039" "g.85213937del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85958932del" "" "pathogenic" "" "0000619949" "0" "50" "X" "85218743" "85218743" "subst" "0" "01943" "CHM_000506" "g.85218743G>C" "" "" "" "CHM(NM_000390.2):c.629C>G (p.P210R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85963738G>C" "" "VUS" "" "0000619950" "0" "70" "X" "85220593" "85220593" "subst" "0" "02330" "CHM_000283" "g.85220593T>C" "" "" "" "CHM(NM_000390.4):c.315-1536A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85965588T>C" "" "likely pathogenic" "" "0000624740" "0" "90" "X" "85156101" "85156110" "del" "0" "02330" "CHM_000504" "g.85156101_85156110del" "" "" "" "CHM(NM_001362517.1):c.889_898delTCACGTGTGC (p.S297Nfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85901096_85901105del" "" "pathogenic" "" "0000624741" "0" "50" "X" "85219048" "85219048" "subst" "0" "01943" "CHM_000507" "g.85219048C>A" "" "" "" "CHM(NM_000390.2):c.324G>T (p.L108F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85964043C>A" "" "VUS" "" "0000682683" "0" "30" "X" "85166258" "85166258" "subst" "0.000450438" "01943" "CHM_000412" "g.85166258A>T" "" "" "" "CHM(NM_000390.2):c.1244+8T>A (p.(=)), CHM(NM_000390.4):c.1244+8T>A, CHM(NM_001362517.1):c.800+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682684" "0" "90" "X" "85166265" "85166265" "subst" "0" "02327" "CHM_000063" "g.85166265C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682685" "0" "50" "X" "85218888" "85218888" "subst" "3.91935E-5" "01943" "CHM_000508" "g.85218888C>T" "" "" "" "CHM(NM_001362517.1):c.40G>A (p.D14N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684695" "1" "90" "X" "85236743" "85236743" "subst" "0" "00004" "CHM_000510" "g.85236743G>A" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685095" "0" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "Whole gene deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685096" "0" "90" "X" "85236740" "85302566" "" "0" "00004" "USP9X_000005" "g.(85233896_85236740)_(85302566_?)del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.1_188del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685097" "0" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_000390.4:c.143_340del (Ala48_Glu113del)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685098" "0" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_000390.4:c.729_966del (Asp244Ilefs*2)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685099" "0" "90" "X" "85156124" "85156124" "subst" "0" "00004" "CHM_000509" "g.85156124G>C" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685100" "0" "90" "X" "85212923" "85212923" "subst" "0" "00004" "CHM_000048" "g.85212923G>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685101" "0" "90" "X" "85213865" "85213865" "subst" "0" "00004" "CHM_000289" "g.85213865C>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685102" "0" "90" "X" "85213886" "85213886" "subst" "0" "00004" "CHM_000043" "g.85213886G>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685103" "0" "90" "X" "85213970" "85213970" "subst" "5.61126E-6" "00004" "CHM_000037" "g.85213970G>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685104" "0" "90" "X" "85218807" "85218808" "del" "0" "00004" "CHM_000027" "g.85218807_85218808del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685105" "0" "90" "X" "85282495" "85282495" "subst" "0" "00004" "CHM_000511" "g.85282495C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685106" "0" "90" "X" "85218669" "85219058" "del" "0" "00004" "CHM_000512" "g.(85213983_85218669)_(85219058_85233770)del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.315_702del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000704189" "3" "90" "X" "85233822" "85233823" "dup" "0" "01807" "CHM_000513" "g.85233822_85233823dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000712982" "1" "90" "X" "85116185" "85302566" "del" "0" "00228" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Zeitz 2021:33538369}" "" "max 4.1Mb deletion CHM, DACH2, KLHL4, and CPXCR1del" "" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic (dominant)" "" "0000712983" "1" "90" "X" "85116185" "85302566" "del" "0" "00228" "CHM_000099" "g.(?_85116185)_(85302566_?)del" "" "{PMID:Zeitz 2021:33538369}" "" "max 3.3Mb deletion CHM, DACH2 and KLHL4" "" "Germline" "" "" "0" "" "" "g.(?_85861180)_(86047562_?)del" "" "pathogenic (dominant)" "" "0000712984" "1" "90" "X" "85218669" "85282562" "del" "0" "00228" "CHM_000527" "g.(85213983_85218669)_(85282562_85302487)del" "" "Zeitz 2021, submitted" "" "c.50-?_702+?del, max 0.088Mb" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000712985" "1" "90" "X" "85302501" "85302501" "del" "0" "00228" "CHM_000135" "g.85302501del" "" "{PMID:Zeitz 2021:33538369}" "" "" "" "Germline" "" "" "0" "" "" "g.86047497del" "" "pathogenic (dominant)" "" "0000712986" "1" "90" "X" "85302485" "85302485" "subst" "0" "00228" "CHM_000352" "g.85302485T>C" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.86047481T>C" "" "pathogenic (dominant)" "" "0000712987" "1" "90" "X" "85302485" "85302485" "subst" "0" "00228" "CHM_000352" "g.85302485T>C" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.86047481T>C" "" "pathogenic (dominant)" "" "0000712988" "1" "90" "X" "85302483" "85302483" "subst" "0" "00228" "CHM_000007" "g.85302483C>A" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.86047479C>A" "" "pathogenic (dominant)" "" "0000712989" "1" "90" "X" "85282494" "85282494" "subst" "0" "00228" "CHM_000114" "g.85282494C>A" "" "{PMID:Zeitz 2021:33538369}" "" "" "" "Germline" "" "" "0" "" "" "g.86027490C>A" "" "pathogenic (dominant)" "" "0000712990" "1" "90" "X" "85211157" "85282562" "del" "0" "00228" "CHM_000521" "g.(85166344_85211157)_(85282562_85302487)del" "" "Zeitz 2021, submitted" "" "c.50-?_1166+?del, max 0.095 Mb" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000712991" "1" "90" "X" "85116185" "85236814" "del" "0" "00228" "CHM_000104" "g.(?_85116185)_(85236814_85282494)del" "" "{PMID:Zeitz 2021:33538369}" "" "c.117-?_1962+? POF1Bdel max 0.9 Mb" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000712992" "1" "90" "X" "85233770" "85236814" "del" "0" "00228" "CHM_000100" "g.(85219058_85233770)_(85236814_85282494)del" "" "Zeitz 2021, submitted" "" "c.117-?_314+?del, max 0.06 Mb" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000712993" "1" "90" "X" "85233880" "85233909" "del" "0" "00228" "CHM_000532" "g.85233880_85233909del" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85978876_85978905del" "" "pathogenic (dominant)" "" "0000712994" "1" "90" "X" "85233799" "85233799" "subst" "0" "00228" "CHM_000531" "g.85233799G>A" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85978795G>A" "" "pathogenic (dominant)" "" "0000712995" "1" "90" "X" "85233799" "85233799" "subst" "0" "00228" "CHM_000531" "g.85233799G>A" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85978795G>A" "" "pathogenic (dominant)" "" "0000712996" "1" "90" "X" "85219056" "85219059" "del" "0" "00228" "CHM_000018" "g.85219056_85219059del" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85964051_85964054del" "" "pathogenic (dominant)" "" "0000712997" "1" "90" "X" "85219044" "85219044" "subst" "0" "00228" "CHM_000530" "g.85219044C>A" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85964039C>A" "" "pathogenic (dominant)" "" "0000712998" "1" "90" "X" "85219044" "85219044" "subst" "0" "00228" "CHM_000530" "g.85219044C>A" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85964039C>A" "" "pathogenic (dominant)" "" "0000712999" "1" "90" "X" "85219044" "85219044" "subst" "0" "00228" "CHM_000530" "g.85219044C>A" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85964039C>A" "" "pathogenic (dominant)" "" "0000713000" "1" "90" "X" "85219044" "85219044" "subst" "0" "00228" "CHM_000530" "g.85219044C>A" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85964039C>A" "" "pathogenic (dominant)" "" "0000713001" "1" "90" "X" "85219044" "85219044" "subst" "0" "00228" "CHM_000530" "g.85219044C>A" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85964039C>A" "" "pathogenic (dominant)" "" "0000713002" "0" "90" "X" "85219017" "85219017" "subst" "0" "00228" "CHM_000529" "g.85219017G>A" "" "Zeitz 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.85964012G>A" "" "pathogenic (dominant)" "" "0000713003" "1" "90" "X" "85218846" "85218847" "del" "0" "00228" "CHM_000022" "g.85218846_85218847del" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85963841_85963842del" "" "pathogenic (dominant)" "" "0000713004" "1" "90" "X" "85218846" "85218847" "del" "0" "00228" "CHM_000022" "g.85218846_85218847del" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85963841_85963842del" "" "pathogenic (dominant)" "" "0000713005" "1" "90" "X" "85218803" "85218803" "subst" "0" "00228" "CHM_000028" "g.85218803G>C" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85963798G>C" "" "pathogenic (dominant)" "" "0000713006" "1" "90" "X" "85218725" "85218725" "del" "0" "00228" "CHM_000225" "g.85218725del" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85963720del" "" "pathogenic (dominant)" "" "0000713007" "1" "90" "X" "85218718" "85218719" "del" "0" "00228" "CHM_000528" "g.85218718_85218719del" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85963713_85963714del" "" "pathogenic (dominant)" "" "0000713008" "0" "90" "X" "85218718" "85218719" "del" "0" "00228" "CHM_000528" "g.85218718_85218719del" "" "Zeitz 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.85963713_85963714del" "" "pathogenic (dominant)" "" "0000713009" "1" "90" "X" "85166265" "85213983" "del" "0" "00228" "CHM_000520" "g.(85156194_85166265)_(85213983_85218669)del" "" "Zeitz 2021, submitted" "" "Exon 6_9del max 0.06 Mb" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713010" "1" "90" "X" "85213913" "85213913" "del" "0" "00228" "CHM_000526" "g.85213913del" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85958908del" "" "pathogenic (dominant)" "" "0000713011" "1" "90" "X" "85116185" "85212981" "del" "0" "00228" "CHM_000514" "g.(?_85116185)_(85212981_85213865)del" "" "{PMID:Zeitz 2021:33538369}" "" "c.820- ?_1962+?, max 0.3 Mb" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713012" "1" "90" "X" "85212864" "85212864" "dup" "0" "00228" "CHM_000525" "g.85212864dup" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85957859dup" "" "pathogenic (dominant)" "" "0000713013" "1" "90" "X" "85212859" "85212859" "subst" "0" "00228" "CHM_000524" "g.85212859C>G" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85957854C>G" "" "pathogenic (dominant)" "" "0000713014" "1" "90" "X" "85211304" "85211305" "delins" "0" "00228" "CHM_000151" "g.85211304_85211305delinsGTC" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85956299_85956300delinsGTC" "" "pathogenic (dominant)" "" "0000713015" "1" "90" "X" "85211201" "85211201" "dup" "0" "00228" "CHM_000523" "g.85211201dup" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85956196dup" "" "pathogenic (dominant)" "" "0000713016" "1" "90" "X" "85211157" "85211157" "subst" "0" "00228" "CHM_000522" "g.85211157C>T" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85956152C>T" "" "pathogenic (dominant)" "" "0000713017" "1" "90" "X" "85156155" "85156155" "dup" "0" "00228" "CHM_000519" "g.85156155dup" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85901150dup" "" "pathogenic (dominant)" "" "0000713018" "1" "90" "X" "85155715" "85155715" "subst" "0" "00228" "CHM_000069" "g.85155715C>T" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85900710C>T" "" "pathogenic (dominant)" "" "0000713019" "1" "90" "X" "85155714" "85155714" "subst" "0" "00228" "CHM_000153" "g.85155714C>A" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85900709C>A" "" "pathogenic (dominant)" "" "0000713020" "1" "90" "X" "85155694" "85155694" "subst" "0" "00228" "CHM_000239" "g.85155694A>G" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85900689A>G" "" "pathogenic (dominant)" "" "0000713021" "1" "90" "X" "85155661" "85155662" "del" "0" "00228" "CHM_000221" "g.85155661_85155662del" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85900656_85900657del" "" "pathogenic (dominant)" "" "0000713022" "1" "90" "X" "85133997" "85134000" "del" "0" "00228" "CHM_000083" "g.85133997_85134000del" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic (dominant)" "" "0000713023" "1" "90" "X" "85133997" "85134000" "del" "0" "00228" "CHM_000083" "g.85133997_85134000del" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic (dominant)" "" "0000713024" "1" "90" "X" "85128056" "85128218" "del" "0" "00228" "CHM_000262" "g.(85119827_85128056)_(85128218_85133969)del" "" "Zeitz 2021, submitted" "" "c.1610- ?_1770+?, max 0.7 Mb" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713025" "1" "90" "X" "85128102" "85128105" "dup" "0" "00228" "CHM_000518" "g.85128102_85128105dup" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85873097_85873100dup" "" "pathogenic (dominant)" "" "0000713026" "1" "90" "X" "85128056" "85128056" "subst" "0" "00228" "CHM_000517" "g.85128056C>T" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85873051C>T" "" "pathogenic (dominant)" "" "0000713027" "0" "90" "X" "85119825" "85119833" "del" "0" "00228" "CHM_000516" "g.85119825_85119833del" "" "Zeitz 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.85864820_85864828del" "" "pathogenic (dominant)" "" "0000713028" "1" "90" "X" "85119650" "85119650" "dup" "0" "00228" "CHM_000515" "g.85119650dup" "" "Zeitz 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.85864645dup" "" "pathogenic (dominant)" "" "0000713029" "1" "90" "X" "85116185" "85119827" "del" "0" "00228" "CHM_000268" "g.(?_85116185)_(85119827_85128056)del" "" "{PMID:Zeitz 2021:33538369}" "" "c.1771-?_1962+?, max 0.06 Mb" "deletion most likely similar to (Sun 2016)" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713030" "1" "90" "X" "85116185" "85119827" "del" "0" "00228" "CHM_000268" "g.(?_85116185)_(85119827_85128056)del" "" "{PMID:Zeitz 2021:33538369}" "" "c.1771-?_1962+?, max 0.06 Mb" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713539" "21" "90" "X" "85220593" "85220593" "subst" "0" "00000" "CHM_000283" "g.85220593T>C" "" "{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}" "" "X:85220593T>C ENST00000357749.2:c.315-1536A>G" "" "Germline" "" "" "0" "" "" "g.85965588T>C" "" "pathogenic (recessive)" "" "0000714111" "20" "90" "X" "85220593" "85220593" "subst" "0" "00000" "CHM_000283" "g.85220593T>C" "" "{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}" "" "X:85220593T>C ENST00000357749.2:c.315-1536A>G" "" "Germline" "" "" "0" "" "" "g.85965588T>C" "" "pathogenic" "" "0000729245" "0" "90" "X" "85134069" "85134069" "subst" "0" "02327" "CHM_000533" "g.85134069C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000729246" "0" "30" "X" "85219004" "85219004" "subst" "2.84738E-5" "01943" "CHM_000534" "g.85219004G>A" "" "" "" "CHM(NM_000390.2):c.368C>T (p.A123V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729247" "0" "90" "X" "85219031" "85219055" "del" "0" "02327" "CHM_000535" "g.85219031_85219055del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000729248" "0" "50" "X" "85282504" "85282504" "subst" "0" "01943" "CHM_000536" "g.85282504T>A" "" "" "" "CHM(NM_000390.2):c.107A>T (p.H36L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730207" "1" "90" "X" "85213877" "85213877" "subst" "0" "00000" "CHM_000044" "g.85213877G>A" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.85958872G>A" "" "pathogenic" "ACMG" "0000730969" "21" "90" "X" "85128059" "85128059" "subst" "0" "00006" "CHM_000537" "g.85128059G>A" "" "{PMID:de Castro-Miro 2018:29367200}" "" "" "" "Germline" "yes" "" "0" "" "1769C>T" "" "" "pathogenic (recessive)" "" "0000730970" "21" "90" "X" "85282494" "85282494" "subst" "0" "00006" "CHM_000353" "g.85282494C>G" "" "{PMID:de Castro-Miro 2018:29367200}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000730971" "11" "90" "X" "85282494" "85282494" "subst" "0" "00006" "CHM_000353" "g.85282494C>G" "" "{PMID:de Castro-Miro 2018:29367200}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000730974" "21" "90" "X" "85213970" "85213970" "subst" "5.61126E-6" "00006" "CHM_000037" "g.85213970G>A" "" "{PMID:de Castro-Miro 2018:29367200}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000732550" "0" "90" "X" "85302486" "85302486" "dup" "0" "00000" "CHM_000311" "g.85302486dup" "" "{PMID:Wang 2017:28838317}" "" "IVS1+2dupT" "" "Germline" "" "" "0" "" "" "g.86047482dup" "" "pathogenic" "" "0000732973" "0" "70" "X" "85213928" "85213928" "subst" "0" "00000" "CHM_000040" "g.85213928G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "likely pathogenic" "" "0000732974" "0" "70" "X" "85213928" "85213928" "subst" "0" "00000" "CHM_000040" "g.85213928G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "likely pathogenic" "" "0000732975" "0" "70" "X" "85213928" "85213928" "subst" "0" "00000" "CHM_000040" "g.85213928G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "likely pathogenic" "" "0000732976" "0" "70" "X" "85213928" "85213928" "subst" "0" "00000" "CHM_000040" "g.85213928G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "likely pathogenic" "" "0000732977" "0" "70" "X" "85212923" "85212923" "subst" "0" "00000" "CHM_000048" "g.85212923G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.85957918G>A" "" "likely pathogenic" "" "0000732978" "0" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Stone 2017:28559085}" "" "del ex1-2" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000732979" "0" "70" "X" "85203106" "85546828" "del" "0" "00000" "CHM_000538" "g.85203106_85546828del" "" "{PMID:Stone 2017:28559085}" "" "del ex1-8, chrX:85203106-85546828del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000732980" "0" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Stone 2017:28559085}" "" "del entire gene" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000732981" "0" "70" "X" "85204844" "85215309" "dup" "0" "00000" "CHM_000539" "g.85204844_85215309dup" "" "{PMID:Stone 2017:28559085}" "" "del ex6-8, ChrX:85215309-85204844dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000732982" "0" "70" "X" "85302487" "85302487" "subst" "0" "00000" "CHM_000542" "g.85302487C>A" "" "{PMID:Stone 2017:28559085}" "" "IVS1+1 G>T" "" "Germline" "" "" "0" "" "" "g.86047483C>A" "" "likely pathogenic" "" "0000732983" "0" "70" "X" "85211229" "85211230" "del" "0" "00000" "CHM_000540" "g.85211229_85211230del" "" "{PMID:Stone 2017:28559085}" "" "1094_1095delTT" "" "Germline" "" "" "0" "" "" "g.85956224_85956225del" "" "likely pathogenic" "" "0000732984" "0" "70" "X" "85213915" "85213916" "del" "0" "00000" "CHM_000541" "g.85213915_85213916del" "" "{PMID:Stone 2017:28559085}" "" "769_770delTT" "" "Germline" "" "" "0" "" "" "g.85958910_85958911del" "" "likely pathogenic" "" "0000732985" "0" "70" "X" "85302505" "85302516" "del" "0" "00000" "CHM_000543" "g.85302505_85302516del" "" "{PMID:Stone 2017:28559085}" "" "21_32delGGAGTTTGATGT" "" "Germline" "" "" "0" "" "" "g.86047501_86047512del" "" "likely pathogenic" "" "0000732986" "0" "70" "X" "85218846" "85218847" "del" "0" "00000" "CHM_000022" "g.85218846_85218847del" "" "{PMID:Stone 2017:28559085}" "" "525_526delAG" "" "Germline" "" "" "0" "" "" "g.85963841_85963842del" "" "likely pathogenic" "" "0000735944" "0" "70" "X" "0" "0" "" "0" "02485" "USP9X_000005" "g.?" "" "{PMID:Bravo-Gil 2017:28157192}" "" "del ex3-9: c.(116+1_117-1)_(1244+1_1245-1)del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000735945" "0" "70" "X" "85219059" "85219059" "subst" "0" "02485" "CHM_000544" "g.85219059T>C" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.85964054T>C" "" "likely pathogenic" "" "0000735947" "0" "70" "X" "85233847" "85233847" "subst" "0.00258011" "02485" "CHM_000418" "g.85233847G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.85978843G>A" "" "likely pathogenic" "" "0000736826" "1" "70" "X" "85119664" "85119675" "dup" "0" "00000" "CHM_000467" "g.85119664_85119675dup" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs767043768" "0" "" "" "g.85864659_85864670dup" "" "likely pathogenic" "" "0000759582" "1" "90" "X" "85218897" "85218897" "dup" "0" "00000" "CHM_000547" "g.85218897dup" "" "{PMID:Carrigan 2016:27624628}" "" "476dupC" "" "Germline" "" "" "0" "" "" "g.85963892dup" "" "pathogenic" "" "0000759583" "1" "90" "X" "85211160" "85211160" "del" "0" "00000" "CHM_000546" "g.85211160del" "" "{PMID:Carrigan 2016:27624628}" "" "1164delC" "" "Germline" "" "" "0" "" "" "g.85956155del" "" "pathogenic" "" "0000759584" "1" "90" "X" "85155688" "85155688" "subst" "0" "00000" "CHM_000545" "g.85155688G>C" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.85900683G>C" "" "pathogenic" "" "0000759585" "1" "90" "X" "85213928" "85213928" "subst" "0" "00000" "CHM_000040" "g.85213928G>A" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "" "0000759586" "1" "90" "X" "85213877" "85213877" "subst" "0" "00000" "CHM_000044" "g.85213877G>A" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.85958872G>A" "" "pathogenic" "" "0000759665" "21" "90" "X" "85282494" "85282494" "subst" "0" "00000" "CHM_000009" "g.85282494C>T" "" "{PMID:Zhang 2016:27596865}" "" "c.116+1G>A" "" "Germline" "" "" "0" "" "" "g.86027490C>T" "" "pathogenic" "ACMG" "0000759996" "0" "50" "X" "85233862" "85233862" "subst" "0" "00000" "CHM_000548" "g.85233862A>G" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.85978858A>G" "" "VUS" "" "0000760250" "0" "70" "X" "85155656" "85155656" "subst" "0" "00000" "CHM_000338" "g.85155656G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.85900651G>A" "" "likely pathogenic" "" "0000760280" "0" "70" "X" "85302485" "85302485" "subst" "0" "00000" "CHM_000352" "g.85302485T>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.86047481T>C" "" "likely pathogenic" "" "0000763596" "21" "90" "X" "85148499" "85148500" "ins" "0" "04043" "CHM_000549" "g.85148499_85148500ins[85148791_85150533inv;TGTG]" "" "{PMID:Fadaie 2021:34795310}, {PMID:Fadaie 2021:35047838}, {PMID:Capasso 2025:40251809}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85893494_85893495ins[85893786_85895528inv;TGTG]" "" "pathogenic" "" "0000765630" "20" "90" "X" "85302304" "85304319" "del" "0" "04059" "CHM_000550" "g.85302304_85304319del" "" "" "" "c.-1780_49+187del" "ACMG PVS1, PS4_Supporting (based on a similar whole exon 1 deletion [PMID:19597113]), PM2_Supporting, PP1 (based on a similar whole exon 1 deletion [PMID:19597113])" "Germline" "" "" "0" "" "" "g.86047300_86049315del" "" "pathogenic" "ACMG" "0000765746" "0" "70" "X" "85211180" "85211180" "subst" "5.61994E-6" "00000" "CHM_000299" "g.85211180C>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.85956175C>A" "" "likely pathogenic (dominant)" "" "0000780196" "0" "70" "X" "85134059" "85134059" "subst" "0" "03779" "CHM_000120" "g.85134059T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs397514603" "0" "" "" "" "" "likely pathogenic" "" "0000783996" "20" "90" "X" "85133997" "85134000" "del" "0" "00006" "CHM_000083" "g.85133997_85134000del" "" "" "" "1584_1587delTGTT" "" "Germline" "" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic" "" "0000785385" "0" "90" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Van Huet 2015:25999674}" "" "del ex2 c.50-?_116+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000786364" "1" "90" "X" "85218875" "85218876" "del" "0" "00000" "CHM_000552" "g.85218875_85218876del" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.85963870_85963871del" "" "pathogenic" "" "0000786403" "0" "90" "X" "85128193" "85128200" "del" "0" "00000" "CHM_000551" "g.85128193_85128200del" "" "{PMID:Consugar 2015:25412400}" "" "1629_1636delGCCAAGAA" "" "Germline" "" "" "0" "" "" "g.85873188_85873195del" "" "pathogenic" "" "0000788160" "1" "50" "X" "85213877" "85213877" "subst" "0" "00000" "CHM_000044" "g.85213877G>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.85958872G>A" "" "VUS" "" "0000791186" "21" "90" "X" "85236757" "85236757" "subst" "0" "00000" "CHM_000315" "g.85236757C>T" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.85981753C>T" "" "pathogenic" "ACMG" "0000791187" "21" "90" "X" "85236757" "85236757" "subst" "0" "00000" "CHM_000315" "g.85236757C>T" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.85981753C>T" "" "pathogenic" "ACMG" "0000791188" "21" "90" "X" "85236757" "85236757" "subst" "0" "00000" "CHM_000315" "g.85236757C>T" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.85981753C>T" "" "pathogenic" "ACMG" "0000791549" "20" "70" "X" "85219032" "85219032" "subst" "0" "00000" "CHM_000142" "g.85219032C>A" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.85964027C>A" "" "likely pathogenic" "" "0000791550" "10" "70" "X" "85213928" "85213928" "subst" "0" "00000" "CHM_000040" "g.85213928G>A" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.85958923G>A" "" "likely pathogenic" "" "0000792330" "0" "70" "X" "85211157" "85236814" "del" "0" "03508" "CHM_000101" "g.(85166344_85211157)_(85236814_85282494)del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000794095" "0" "70" "X" "85218969" "85218970" "del" "0" "03508" "CHM_000553" "g.85218969_85218970del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.85963964_85963965del" "" "pathogenic" "ACMG" "0000794188" "0" "70" "X" "85213970" "85213970" "subst" "5.61126E-6" "03508" "CHM_000037" "g.85213970G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000794297" "0" "90" "X" "85219058" "85219058" "subst" "0" "00000" "CHM_000445" "g.85219058C>G" "" "{PMID:Wang 2018:30029497}" "" "NM_000390.3:c.315-1G>C, NP_000381.1:p.?, NC_000023.10:g.85219058C>G" "" "Germline" "?" "" "0" "" "" "g.85964053C>G" "" "pathogenic" "ACMG" "0000794815" "0" "70" "X" "85156165" "85156166" "delins" "0" "00000" "CHM_000554" "g.85156165_85156166delinsAG" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_000390, c.1272_1273delinsCT, p.Gln425Ter" "" "Germline" "yes" "" "0" "" "" "g.85901160_85901161delinsAG" "" "likely pathogenic" "" "0000794816" "0" "70" "X" "85156165" "85156166" "delins" "0" "00000" "CHM_000554" "g.85156165_85156166delinsAG" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_000390, c.1272_1273delinsCT, p.Gln425Ter" "" "Germline" "yes" "" "0" "" "" "g.85901160_85901161delinsAG" "" "likely pathogenic" "" "0000796989" "3" "90" "X" "85212937" "85212937" "dup" "0" "00000" "USP9X_000005" "g.85212937dupT" "" "{PMID:Corton-2013:23940504}" "" "c.863dupA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000797567" "0" "70" "X" "85302534" "85302534" "subst" "0" "00000" "CHM_000128" "g.85302534C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CHM c.3G>A, p.(Met1?)" "" "Germline" "?" "" "0" "" "" "g.86047530C>T" "" "likely pathogenic" "ACMG" "0000797568" "0" "90" "X" "85213928" "85213928" "subst" "0" "00000" "CHM_000040" "g.85213928G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CHM c.757C>T, p.(Arg253*)" "" "Germline" "?" "" "0" "" "" "g.85958923G>A" "" "pathogenic" "ACMG" "0000810708" "0" "30" "X" "85128156" "85128156" "subst" "0" "02330" "CHM_000556" "g.85128156C>T" "" "" "" "CHM(NM_001362517.1):c.1227G>A (p.S409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810709" "0" "30" "X" "85166244" "85166245" "ins" "0" "02330" "CHM_000557" "g.85166244_85166245insTATATATATATATATATATATATGAA" "" "" "" "CHM(NM_001362517.1):c.800+44_800+45insATATTCATATATATATATATATATAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810710" "0" "30" "X" "85213928" "85213928" "subst" "1.12051E-5" "01943" "CHM_000558" "g.85213928G>T" "" "" "" "CHM(NM_001362517.1):c.313C>A (p.R105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811516" "0" "90" "7" "33312700" "33312700" "subst" "0" "00000" "BBS9_000125" "g.33312700T>G" "" "{PMID:Kim 2019:31496144}" "" "CHM c.187C>T, p.Q63X" "" "Germline" "?" "" "0" "" "" "g.33273088T>G" "" "pathogenic" "ACMG" "0000812525" "0" "70" "X" "85213886" "85213886" "subst" "0" "00000" "CHM_000043" "g.85213886G>A" "" "{PMID:Wang 2019:31106028}" "" "c.799G>A, p.(Arg267*)" "error in annotation: c.799G>A instead of C>T, hemizygous" "Germline" "?" "" "0" "" "" "g.85958881G>A" "" "likely pathogenic" "" "0000812771" "0" "90" "X" "85302487" "85302487" "subst" "0" "00000" "CHM_000542" "g.85302487C>A" "" "{PMID:Wang 2019:31106028}" "" "c.49+1C>A, p.?" "error in annotation: c.49+1C>A instead of G>T, hemizygous" "Germline" "?" "" "0" "" "" "g.86047483C>A" "" "pathogenic" "" "0000812810" "0" "90" "X" "85213865" "85213865" "subst" "0" "00000" "CHM_000367" "g.85213865C>T" "" "{PMID:Wang 2019:31106028}" "" "c.819+1C>T, p.?" "error in annotation: c.819+1C>T instead of G>A, heterozygous" "Germline" "?" "" "0" "" "" "g.85958860C>T" "" "pathogenic" "" "0000812841" "0" "90" "X" "85236814" "85236817" "del" "0" "00000" "CHM_000559" "g.85236814_85236817del" "" "{PMID:Wang 2019:31106028}" "" "c.117-3_117del, p.?" "hemizygous" "Germline" "?" "" "0" "" "" "g.85981810_85981813del" "" "pathogenic" "" "0000815417" "20" "50" "X" "85282495" "85282495" "subst" "3.92377E-5" "00000" "CHM_000560" "g.85282495G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CHM:NM_000390 c.C116T, p.S39L" "hemizygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.86027491G>A" "" "VUS" "ACMG" "0000816093" "3" "70" "X" "85233522" "85237146" "del" "0" "00000" "CHM_000561" "g.85233522_85237146del" "" "{PMID:Zampaglione 2020:32037395}" "" "CHM chrX:85233521_85237145del" "range 3624-7411 bp in various techniques, homozygous" "Unknown" "?" "" "0" "" "" "g.85978518_85982142del" "" "likely pathogenic" "" "0000816148" "0" "90" "X" "85156124" "85156124" "subst" "0" "00000" "CHM_000509" "g.85156124G>C" "" "{PMID:Zampaglione 2020:32037395}" "" "CHM c.1314C>G, p.Tyr438Ter" "" "Unknown" "?" "" "0" "" "" "g.85901119G>C" "" "pathogenic" "" "0000819048" "20" "70" "X" "85134067" "85134067" "del" "0" "00000" "CHM_000562" "g.85134067del" "" "{PMID:Dineiro 2020:32483926}" "" "CHM c.1514delT, p.(Leu505Trpfs*4)" "hemizygous" "Germline" "?" "" "0" "" "" "g.85879062del" "" "likely pathogenic" "ACMG" "0000819060" "20" "70" "X" "85219032" "85219032" "subst" "0" "00000" "CHM_000142" "g.85219032C>A" "" "{PMID:Dineiro 2020:32483926}" "" "CHM c.340G>T, p.(Glu114*)" "hemizygous" "Germline" "?" "" "0" "" "" "g.85964027C>A" "" "likely pathogenic" "ACMG" "0000819328" "1" "70" "X" "85212876" "85212876" "subst" "0" "00000" "CHM_000050" "g.85212876A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.924T>G/p.Y308*" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.85957871A>C" "" "likely pathogenic" "" "0000819329" "1" "70" "X" "85212876" "85212876" "subst" "0" "00000" "CHM_000050" "g.85212876A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.924T>G/p.Y308*" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.85957871A>C" "" "likely pathogenic" "" "0000819330" "1" "70" "X" "85212876" "85212876" "subst" "0" "00000" "CHM_000050" "g.85212876A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.924T>G/p.Y308*" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.85957871A>C" "" "likely pathogenic" "" "0000819331" "1" "70" "X" "85218954" "85218954" "del" "0" "00000" "CHM_000568" "g.85218954del" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.419del/p.P140Lfs*7" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.85963949del" "" "likely pathogenic" "" "0000819337" "1" "70" "X" "85218719" "85218722" "del" "0" "00000" "CHM_000034" "g.85218719_85218722del" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.652_655del/S218Kfs*13" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85963714_85963717del" "" "likely pathogenic" "" "0000819345" "1" "70" "X" "85133997" "85134000" "del" "0" "00000" "CHM_000083" "g.85133997_85134000del" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.1584_1587del/p.V529Hfs*7" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85878992_85878995del" "" "likely pathogenic" "" "0000819393" "1" "70" "X" "85219056" "85219059" "del" "0" "00000" "CHM_000018" "g.85219056_85219059del" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.315_318del/p.S105Rfs*20" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.85964051_85964054del" "" "likely pathogenic" "" "0000819394" "1" "70" "X" "85219056" "85219059" "del" "0" "00000" "CHM_000018" "g.85219056_85219059del" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.315_318del/p.S105Rfs*20" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.85964051_85964054del" "" "likely pathogenic" "" "0000819418" "1" "70" "X" "85212923" "85212923" "subst" "0" "00000" "CHM_000048" "g.85212923G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.877C>T/p.R293*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85957918G>A" "" "likely pathogenic" "" "0000819425" "1" "70" "X" "85155650" "85155650" "subst" "0" "00000" "CHM_000564" "g.85155650C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.1413+1G>T/p.?" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85900645C>A" "" "likely pathogenic" "" "0000819452" "1" "70" "X" "85236797" "85236806" "dup" "0" "00000" "CHM_000395" "g.85236797_85236806dup" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.124_133dup/p.G45fs*10" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.85981793_85981802dup" "" "likely pathogenic" "" "0000819456" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion exon 1" "deletion boundaries not mentioned, solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819457" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion exon 1" "deletion boundaries not mentioned, solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819458" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion exon 1" "deletion boundaries not mentioned, solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819478" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.1531_1532ins15/ p.T511_E653delinsIF" "inserted nucleotides not given in the publication, solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819490" "1" "70" "X" "85223644" "85223644" "subst" "0" "00000" "CHM_000019" "g.85223644A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.315-4587T>A/p.?" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85968639A>T" "" "likely pathogenic" "" "0000819496" "1" "70" "X" "85211384" "85211384" "subst" "0" "00000" "CHM_000397" "g.85211384C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.941-1G>T/p.?" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85956379C>A" "" "likely pathogenic" "" "0000819514" "1" "70" "X" "85282495" "85282495" "subst" "0" "00000" "CHM_000571" "g.85282495G>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.116C>G/p.S39*" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.86027491G>C" "" "likely pathogenic" "" "0000819517" "1" "70" "X" "85218756" "85218756" "dup" "0" "00000" "CHM_000396" "g.85218756dup" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.616dup/p.T206Nfs*17" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.85963751dup" "" "likely pathogenic" "" "0000819518" "1" "70" "X" "85218756" "85218756" "dup" "0" "00000" "CHM_000396" "g.85218756dup" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.616dup/p.T206Nfs*17" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.85963751dup" "" "likely pathogenic" "" "0000819523" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion exon 3-15" "deletion boundaries not mentioned, solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819526" "1" "70" "X" "85218875" "85218876" "dup" "0" "00000" "CHM_000566" "g.85218875_85218876dup" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.498_499dup/p.L167Rfs*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85963870_85963871dup" "" "likely pathogenic" "" "0000819527" "1" "70" "X" "85166265" "85166265" "subst" "0" "00000" "CHM_000565" "g.85166265C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.1244+1G>C/p.?" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85911260C>G" "" "likely pathogenic" "" "0000819534" "1" "70" "X" "85149257" "85149257" "del" "0" "00000" "CHM_000075" "g.85149257del" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.1446del/p.G483Efs*15" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85894252del" "" "likely pathogenic" "" "0000819537" "1" "70" "X" "85213970" "85213970" "subst" "5.61126E-6" "00000" "CHM_000037" "g.85213970G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.715C>T/p.R239*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85958965G>A" "" "likely pathogenic" "" "0000819546" "1" "70" "X" "85233776" "85233776" "subst" "0" "00000" "CHM_000570" "g.85233776A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.309T>A/p.Y103*" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.85978772A>T" "" "likely pathogenic" "" "0000819549" "1" "70" "X" "85155705" "85155706" "delins" "0" "00000" "CHM_000070" "g.85155705_85155706delinsC" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.1358_1359delinsG/p.S453*" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.85900700_85900701delinsC" "" "likely pathogenic" "" "0000819554" "1" "70" "X" "85155705" "85155706" "delins" "0" "00000" "CHM_000070" "g.85155705_85155706delinsC" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.1358_1359delinsG/p.S453*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85900700_85900701delinsC" "" "likely pathogenic" "" "0000819555" "1" "70" "X" "85155705" "85155706" "delins" "0" "00000" "CHM_000070" "g.85155705_85155706delinsC" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.1358_1359delinsG/p.S453*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85900700_85900701delinsC" "" "likely pathogenic" "" "0000819558" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion entire gene" "deletion boundaries not mentioned, solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819562" "1" "70" "X" "85218903" "85218903" "subst" "0" "00000" "CHM_000567" "g.85218903G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.469C>T/p.Q157*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85963898G>A" "" "likely pathogenic" "" "0000819565" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion entire gene" "deletion boundaries not mentioned, solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819566" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion entire gene" "deletion boundaries not mentioned, solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819567" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion exon 13-14" "deletion boundaries not mentioned, solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819568" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion exon 13-14" "deletion boundaries not mentioned, solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819574" "1" "70" "X" "85282495" "85282495" "subst" "0" "00000" "CHM_000571" "g.85282495G>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.116C>G/p.S39*" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.86027491G>C" "" "likely pathogenic" "" "0000819577" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion exon 15" "deletion boundaries not mentioned, solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819587" "1" "70" "X" "85218973" "85218986" "delins" "0" "00000" "CHM_000569" "g.85218973_85218986delinsC" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.386_399delinsG/p.N129Rfs*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85963968_85963981delinsC" "" "likely pathogenic" "" "0000819589" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion entire gene" "deletion boundaries not mentioned, solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819590" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion entire gene" "deletion boundaries not mentioned, solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819593" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.1531_1532ins15/ p.T511_E653delinsIF" "inserted nucleotides not given in the publication, solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819598" "1" "70" "X" "85149219" "85149219" "subst" "0" "00000" "CHM_000077" "g.85149219G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.1484C>A/p.S495*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85894214G>T" "" "likely pathogenic" "" "0000819602" "1" "70" "X" "85128175" "85128179" "del" "0" "00000" "CHM_000563" "g.85128175_85128179del" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.1651_1655del/p.Y551Qfs*14" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85873170_85873174del" "" "likely pathogenic" "" "0000819623" "1" "70" "X" "85302515" "85302515" "subst" "0" "00000" "CHM_000572" "g.85302515C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.22G>T/p.E8*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.86047511C>A" "" "likely pathogenic" "" "0000819624" "1" "70" "X" "85302515" "85302515" "subst" "0" "00000" "CHM_000572" "g.85302515C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.22G>T/p.E8*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.86047511C>A" "" "likely pathogenic" "" "0000819625" "1" "70" "X" "85302515" "85302515" "subst" "0" "00000" "CHM_000572" "g.85302515C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.22G>T/p.E8*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.86047511C>A" "" "likely pathogenic" "" "0000819626" "1" "70" "X" "85302515" "85302515" "subst" "0" "00000" "CHM_000572" "g.85302515C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.22G>T/p.E8*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.86047511C>A" "" "likely pathogenic" "" "0000819630" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion entire gene" "deletion boundaries not mentioned, solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819631" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1 :Deletion exon 13-14" "deletion boundaries not mentioned, solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819632" "1" "70" "X" "85128183" "85128183" "subst" "0" "00000" "CHM_000088" "g.85128183C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CHM, variant 1: c.1644G>A/p.W548*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.85873178C>T" "" "likely pathogenic" "" "0000822687" "0" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Gliem 2020:32646556}" "" "CHM Deletion Exons 1-15, putative loss of function" "heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000823227" "20" "90" "X" "85218847" "85218847" "del" "0" "00000" "CHM_000574" "g.85218847del" "" "{PMID:Hull 2020:32856788}" "" "CHM nucleotide 1, protein 1:c.525delA, p.Glu177Cysfs*20" "error in annotation: c.525del causes p.(Glu177Lysfs*20) and not p.(Glu177Cysfs*20), hemizygous, ACMG classified, novel (Table 2)" "Germline" "?" "" "0" "" "" "g.85963842del" "" "pathogenic" "ACMG" "0000823228" "0" "50" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Hull 2020:32856788}" "" "CHM nucleotide 1, protein 1:deletionexons7-12, p.?" "-, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.?" "" "VUS" "" "0000823229" "20" "90" "X" "85128178" "85128190" "del" "0" "00000" "CHM_000573" "g.85128178_85128190del" "" "{PMID:Hull 2020:32856788}" "" "CHM nucleotide 1, protein 1:c.1637_1649del, p.Leu547Thrfs*5" "error in annotation: c.1637_1649del causes p.(Leu547Thrfs*4) and not p.(Leu547Thrfs*5), annotation switched to c.1639_1651del to match the nomenclature requirements, hemizygous, ACMG classified, novel (Table 2)" "Germline" "?" "" "0" "" "" "g.85873173_85873185del" "" "pathogenic" "ACMG" "0000824666" "3" "90" "X" "85218846" "85218847" "del" "0" "00000" "CHM_000022" "g.85218846_85218847del" "" "{PMID:Ma 2021:33691693}" "" "CHM c.525_526del, p.T175fs" "error in annotation, c.525_526del causes p.Glu177LysfsTer6 and not p.Thr175fs; marked as causative, homozygous" "Unknown" "?" "" "0" "" "" "g.85963841_85963842del" "" "pathogenic" "ACMG" "0000824697" "20" "90" "X" "85166344" "85166344" "del" "0" "00000" "CHM_000576" "g.85166344del" "" "{PMID:Ma 2021:33691693}" "" "CHM c.1167delG, p.R389fs" "error in annotation, c.1167delG causes p.Met390CysfsTer19 and not p.Arg389fs; marked as causative, hemizygous" "Unknown" "?" "" "0" "" "" "g.85911339del" "" "pathogenic" "ACMG" "0000824743" "3" "70" "X" "85149282" "85149282" "del" "0" "00000" "CHM_000575" "g.85149282del" "" "{PMID:Ma 2021:33691693}" "" "CHM c.1424delT, p.L475X" "marked as causative, homozygous" "Unknown" "?" "" "0" "" "" "g.85894277del" "" "likely pathogenic" "ACMG" "0000825694" "20" "70" "X" "85212923" "85212923" "subst" "0" "00000" "CHM_000048" "g.85212923G>A" "" "{PMID:Liu-2020:33090715}" "" "c.877C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825695" "20" "70" "X" "85236738" "85236738" "subst" "0" "00000" "CHM_000583" "g.85236738T>C" "" "{PMID:Liu-2020:33090715}" "" "c.189+3A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825702" "20" "70" "X" "85212923" "85212923" "subst" "0" "00000" "CHM_000048" "g.85212923G>A" "" "{PMID:Liu-2020:33090715}" "" "c.877C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825703" "20" "70" "X" "85128082" "85128082" "subst" "0" "00000" "CHM_000577" "g.85128082A>T" "" "{PMID:Liu-2020:33090715}" "" "c.1745T>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825783" "20" "70" "X" "85213928" "85213928" "subst" "0" "00000" "CHM_000040" "g.85213928G>A" "" "{PMID:Liu-2020:33090715}" "" "c.757C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825813" "20" "70" "X" "85213877" "85213877" "subst" "0" "00000" "CHM_000044" "g.85213877G>A" "" "{PMID:Liu-2020:33090715}" "" "c.808C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825852" "20" "70" "X" "85219058" "85219058" "subst" "0" "00000" "CHM_000445" "g.85219058C>G" "" "{PMID:Liu-2020:33090715}" "" "c.315-1G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825884" "0" "70" "X" "85128130" "85128131" "ins" "0" "00000" "CHM_000578" "g.85128130_85128131insA" "" "{PMID:Liu-2020:33090715}" "" "c.1696_1697insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000825965" "20" "70" "X" "85213877" "85213877" "subst" "0" "00000" "CHM_000044" "g.85213877G>A" "" "{PMID:Liu-2020:33090715}" "" "c.808C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825971" "20" "70" "X" "85212923" "85212923" "subst" "0" "00000" "CHM_000048" "g.85212923G>A" "" "{PMID:Liu-2020:33090715}" "" "c.877C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826026" "20" "70" "X" "85211350" "85211350" "del" "0" "00000" "CHM_000580" "g.85211350del" "" "{PMID:Liu-2020:33090715}" "" "c.974delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826249" "20" "70" "X" "85211290" "85211291" "ins" "0" "00000" "CHM_000579" "g.85211290_85211291insC" "" "{PMID:Liu-2020:33090715}" "" "c.1033_1034insG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826997" "0" "70" "X" "85218897" "85218897" "del" "0" "00000" "CHM_000582" "g.85218897del" "" "{PMID:Thorsteinsson 2021:33851411}" "" "CHM c.476delC, p.Pro159Glnfs*9" "hemizygous" "Unknown" "?" "" "0" "" "" "g.85963892del" "" "likely pathogenic" "" "0000826998" "0" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Thorsteinsson 2021:33851411}" "" "CHM Deletion of exon 11 -," "hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000827614" "21" "70" "X" "85218686" "85218686" "dup" "0" "00000" "CHM_000581" "g.85218686dup" "" "{PMID:Kim 2021:33946315}" "" "CHM c.688delinsTG, p.(Asp230Ter)" "error in annotation, c.688delinsTG should be c.687_688dup, hemizygous" "Germline" "yes" "" "0" "" "" "g.85963681dup" "" "likely pathogenic" "ACMG" "0000827615" "0" "70" "X" "85218686" "85218686" "dup" "0" "00000" "CHM_000581" "g.85218686dup" "" "{PMID:Kim 2021:33946315}" "" "CHM c.688delinsTG, p.(Asp230Ter)" "error in annotation, c.688delinsTG should be c.687_688dup, hemizygous" "Unknown" "?" "" "0" "" "" "g.85963681dup" "" "likely pathogenic" "ACMG" "0000827617" "0" "90" "X" "85128109" "85128110" "del" "0" "00000" "CHM_000383" "g.85128109_85128110del" "" "{PMID:Kim 2021:33946315}" "" "CHM c.1718_1719del, p.(Tyr573CysfsTer12)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.85873104_85873105del" "" "pathogenic" "ACMG" "0000827618" "0" "90" "X" "85128109" "85128110" "del" "0" "00000" "CHM_000383" "g.85128109_85128110del" "" "{PMID:Kim 2021:33946315}" "" "CHM c.1718_1719del, p.(Tyr573CysfsTer12)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.85873104_85873105del" "" "pathogenic" "ACMG" "0000827621" "0" "50" "X" "85302535" "85302535" "subst" "0" "00000" "CHM_000584" "g.85302535A>T" "" "{PMID:Kim 2021:33946315}" "" "CHM c.2T>A, p.(Met1?)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.86047531A>T" "" "VUS" "ACMG" "0000828845" "20" "90" "X" "85133997" "85134000" "del" "0" "00000" "CHM_000083" "g.85133997_85134000del" "" "{PMID:Chen 2021:43360855}" "" "CHM c.[1584_1587del];[0], V1: c.1584_1587delTGTT, (p.Val529HisfsTer7)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic" "ACMG" "0000828932" "20" "90" "X" "85212947" "85212947" "dup" "0" "00000" "CHM_000250" "g.85212947dup" "" "{PMID:Chen 2021:43360855}" "" "CHM c.[855dupA];[0], V1: c.855dupA, (p.Gln286ThrfsTer21)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.85957942dup" "" "pathogenic" "ACMG" "0000829765" "1" "70" "X" "85282562" "85302537" "del" "0" "00006" "CHM_000585" "g.(?_85302537)_(85282562_85302487)del" "" "{PMID:Ellingford 2017:28378820}" "" "g.85302437_85302586del" "" "Germline" "" "" "0" "" "" "g.(?_86047533)_(86027558_86047483)del" "" "likely pathogenic" "" "0000832184" "20" "90" "X" "85116184" "85302567" "del" "0" "00000" "CHM_000588" "g.85116184_85302567del" "" "{PMID:Zhou 2017:28774736}" "" "REP-1: E1-E15 deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832185" "20" "90" "X" "85116184" "85302567" "del" "0" "00000" "CHM_000588" "g.85116184_85302567del" "" "{PMID:Zhou 2017:28774736}" "" "REP-1: E1-E15 deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832186" "20" "90" "X" "85233770" "85233896" "dup" "0" "00000" "CHM_000618" "g.85233770_85233896dup" "" "{PMID:Zhou 2017:28774736}" "" "REP-1: E4 duplication" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832187" "20" "90" "X" "85233770" "85233896" "dup" "0" "00000" "CHM_000618" "g.85233770_85233896dup" "" "{PMID:Zhou 2017:28774736}" "" "REP-1: E4 duplication" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832188" "20" "90" "X" "85233770" "85233896" "dup" "0" "00000" "CHM_000618" "g.85233770_85233896dup" "" "{PMID:Zhou 2017:28774736}" "" "REP-1: E4 duplication" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832189" "20" "90" "X" "85302483" "85302483" "subst" "0" "00000" "CHM_000630" "g.85302483C>G" "" "{PMID:Zhou 2017:28774736}" "" "REP-1: c.49+5G>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832190" "20" "90" "X" "85116184" "85236814" "del" "0" "00000" "CHM_000586" "g.85116184_85236814del" "" "{PMID:Zhou 2017:28774736}" "" "REP-1: E3-15 deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832191" "20" "90" "X" "85116184" "85302567" "del" "0" "00000" "CHM_000588" "g.85116184_85302567del" "" "{PMID:Zhou 2017:28774736}" "" "REP-1: E1-E15 deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832192" "20" "90" "X" "85116184" "85302567" "del" "0" "00000" "CHM_000588" "g.85116184_85302567del" "" "{PMID:Zhou 2017:28774736}" "" "REP-1: E1-E15 deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832193" "20" "90" "X" "85155694" "85155694" "subst" "0" "00000" "CHM_000239" "g.85155694A>G" "" "{PMID:Torriano 2017:28911202}" "" "c.1370T>C/L457P" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832194" "20" "90" "X" "85155694" "85155694" "subst" "0" "00000" "CHM_000239" "g.85155694A>G" "" "{PMID:Torriano 2017:28911202}" "" "c.1370T>C/L457P" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832195" "20" "90" "X" "85155694" "85155694" "subst" "0" "00000" "CHM_000239" "g.85155694A>G" "" "{PMID:Torriano 2017:28911202}" "" "c.1370T>C/L457P" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832196" "20" "90" "X" "85133992" "85133995" "del" "0" "00000" "CHM_000083" "g.85133992_85133995del" "" "{PMID:Skorczyk-Werner 2018:30541579}" "" "c.1584_1587delTTGT (p.Val529Hisfs*7)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832197" "20" "90" "X" "85166334" "85166334" "dup" "0" "00000" "CHM_000601" "g.85166334dupA" "" "{PMID:Skorczyk-Werner 2018:30541579}" "" "c.1176dupT (p.(Val393Cysfs*25))" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000832198" "20" "90" "X" "85218846" "85218847" "del" "0" "00000" "CHM_000617" "g.85218846_85218847delCT" "" "{PMID:Skorczyk-Werner 2018:30541579}" "" "c.525_526delAG (p.Glu177Lysfs*6)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832199" "20" "90" "X" "85128154" "85128154" "subst" "0" "00000" "CHM_000091" "g.85128154G>C" "" "{PMID:Skorczyk-Werner 2018:30541579}" "" "c.1673C>G (p.Ser558*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832200" "20" "90" "X" "85128154" "85128154" "subst" "0" "00000" "CHM_000091" "g.85128154G>C" "" "{PMID:Skorczyk-Werner 2018:30541579}" "" "c.1673C>G (p.Ser558*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832201" "20" "90" "X" "85282528" "85282528" "subst" "0" "00000" "CHM_000629" "g.85282528G>C" "" "{PMID:Skorczyk-Werner 2018:30541579}" "" "c.83C>G (p.Ser28*)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000832202" "21" "90" "X" "85133992" "85133995" "del" "0" "00000" "CHM_000593" "g.85133992_85133995delAACA" "" "{PMID:Pidro 2019:31097864}" "" "c.1584_1587delTGTT, p(Vl-529Hisfs7)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832203" "0" "90" "X" "85133992" "85133995" "del" "0" "00000" "CHM_000593" "g.85133992_85133995delAACA" "" "{PMID:Pidro 2019:31097864}" "" "c.1584_1587delTGTT, p(Vl-529Hisfs7)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000832204" "20" "90" "X" "85149265" "85149265" "subst" "0" "00000" "CHM_000595" "g.85149265C>A" "" "{PMID:Iftikhar 2019:31253224}" "" "p.E480X: c.1438G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832205" "20" "90" "X" "85213928" "85213928" "subst" "0" "00000" "CHM_000040" "g.85213928G>A" "" "{PMID:Mucciolo 2019:31416074}" "" "c.757C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832206" "20" "90" "X" "85218703" "85218706" "del" "0" "00000" "CHM_000611" "g.85218703_85218706del" "" "{PMID:Mucciolo 2019:31416074}" "" "c.666_669del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832207" "20" "90" "X" "85218703" "85218706" "del" "0" "00000" "CHM_000611" "g.85218703_85218706del" "" "{PMID:Mucciolo 2019:31416074}" "" "c.666_669del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832208" "20" "90" "X" "85219054" "85219057" "del" "0" "00000" "CHM_000018" "g.85219054_85219057del" "" "{PMID:Mucciolo 2019:31416074}" "" "c.315_318del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832209" "20" "90" "X" "85116184" "85302566" "del" "0" "00000" "CHM_000587" "g.85116184_85302566del" "" "{PMID:Mucciolo 2019:31416074}" "" "c.-29-1_5412+1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832210" "20" "90" "X" "85116184" "85302566" "del" "0" "00000" "CHM_000587" "g.85116184_85302566del" "" "{PMID:Mucciolo 2019:31416074}" "" "c.-29-1_5412+1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832211" "20" "90" "X" "85302487" "85302487" "subst" "0" "00000" "CHM_000006" "g.85302487C>T" "" "{PMID:Ben-Charfeddine 2015:26411914}" "" "IVS1+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832212" "20" "90" "X" "85302487" "85302487" "subst" "0" "00000" "CHM_000006" "g.85302487C>T" "" "{PMID:Ben-Charfeddine 2015:26411914}" "" "IVS1+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832213" "0" "90" "X" "85302487" "85302487" "subst" "0" "00000" "CHM_000006" "g.85302487C>T" "" "{PMID:Ben-Charfeddine 2015:26411914}" "" "IVS1+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832214" "20" "30" "X" "85282415" "85282415" "subst" "0" "00000" "CHM_000161" "g.85282415G>A" "" "{PMID:Ouyang 2017:29620233}" "" "c.116+80C>T" "" "Germline" "" "rs1015148" "0" "" "" "" "" "likely benign" "" "0000832215" "20" "30" "X" "85233805" "85233805" "del" "0" "00000" "CHM_000620" "g.85233805delT" "" "{PMID:Ouyang 2017:29620233}" "" "c.280delA" "novel, The variant was detected in the mother I:2, and in the offspring II:1 and II:2, and thus the proband and the female carrier inherited the variant from their carrier mother" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000832216" "0" "30" "X" "85212717" "85212717" "subst" "0" "00000" "CHM_000606" "g.85212717G>T" "" "{PMID:Ouyang 2017:29620233}" "" "c.940+143C>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000832217" "20" "30" "X" "85155596" "85155596" "subst" "0" "00000" "CHM_000597" "g.85155596C>A" "" "{PMID:Ouyang 2017:29620233}" "" "c.1413+55G>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000832218" "20" "30" "X" "85236803" "85236803" "subst" "0" "00000" "CHM_000622" "g.85236803A>G" "" "{PMID:Ouyang 2017:29620233}" "" "c.127T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000832219" "0" "30" "X" "85282415" "85282415" "subst" "0" "00000" "CHM_000161" "g.85282415G>A" "" "{PMID:Ouyang 2017:29620233}" "" "c.116+80C>T" "" "Germline" "" "rs1015148" "0" "" "" "" "" "likely benign" "" "0000832220" "0" "90" "X" "85233805" "85233805" "del" "0" "00000" "CHM_000620" "g.85233805delT" "" "{PMID:Ouyang 2017:29620233}" "" "c.280delA" "novel, The variant was detected in the mother I:2, and in the offspring II:1 and II:2, and thus the proband and the female carrier inherited the variant from their carrier mother" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832221" "3" "30" "X" "85281760" "85281760" "subst" "0" "00000" "CHM_000625" "g.85281760T>C" "" "{PMID:Ouyang 2017:29620233}" "" "c.116+735A>G" "" "Germline" "" "rs5923428" "0" "" "" "" "" "likely benign" "" "0000832222" "3" "30" "X" "85261183" "85261183" "subst" "0" "00000" "CHM_000624" "g.85261183G>T" "" "{PMID:Ouyang 2017:29620233}" "" "c.116+21312C>A" "" "Germline" "" "rs62607865" "0" "" "" "" "" "likely benign" "" "0000832223" "0" "30" "X" "85236825" "85236825" "del" "0" "00000" "CHM_000623" "g.85236825delA" "" "{PMID:Ouyang 2017:29620233}" "" "c.117-12delT" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000832224" "0" "30" "X" "85219021" "85219021" "subst" "0.187713" "00000" "CHM_000004" "g.85219021T>C" "" "{PMID:Ouyang 2017:29620233}" "" "c.351A>G" "" "Germline" "" "rs10217950" "0" "" "" "" "" "likely benign" "" "0000832225" "3" "30" "X" "85215758" "85215758" "subst" "0" "00000" "CHM_000610" "g.85215758C>T" "" "{PMID:Ouyang 2017:29620233}" "" "c.703-1776G>A" "" "Germline" "" "rs780234" "0" "" "" "" "" "likely benign" "" "0000832226" "0" "30" "X" "85166221" "85166222" "ins" "0" "00000" "CHM_000600" "g.85166221_85166222insATAT" "" "{PMID:Ouyang 2017:29620233}" "" "c.1244+44_+45insATAT" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000832227" "3" "30" "X" "85145586" "85145586" "subst" "0" "00000" "CHM_000594" "g.85145586T>C" "" "{PMID:Ouyang 2017:29620233}" "" "c.1510+3607A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000832228" "20" "70" "X" "85155705" "85155705" "subst" "0" "00000" "CHM_000598" "g.85155705G>A" "" "{PMID:Sengillo 2018:29045269}" "" "c.1359C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832229" "0" "70" "X" "85155705" "85155705" "subst" "0" "00000" "CHM_000598" "g.85155705G>A" "" "{PMID:Sengillo 2018:29045269}" "" "c.1359C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832230" "20" "90" "X" "85233803" "85233803" "del" "0" "00000" "CHM_000619" "g.85233803delA" "" "{PMID:Kontos 2019:30690895}" "" "c.282delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832231" "21" "70" "X" "85155705" "85155705" "subst" "0" "00000" "CHM_000598" "g.85155705G>A" "" "{PMID:daPalma 2020:32097478}" "" "c.1359C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000832232" "0" "70" "X" "85302515" "85302515" "del" "0" "00000" "CHM_000632" "g.85302515delC" "" "{PMID:Dan 2020:32364220}" "" "c.22delG" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000832233" "21" "70" "X" "85302515" "85302515" "del" "0" "00000" "CHM_000632" "g.85302515delC" "" "{PMID:Dan 2020:32364220}" "" "c.22delG" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000832234" "21" "70" "X" "85302515" "85302515" "del" "0" "00000" "CHM_000632" "g.85302515delC" "" "{PMID:Dan 2020:32364220}" "" "c.22delG" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000832238" "0" "70" "X" "85302515" "85302515" "del" "0" "00000" "CHM_000632" "g.85302515delC" "" "{PMID:Dan 2020:32364220}" "" "c.22delG" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000832239" "20" "70" "X" "85119637" "85119637" "subst" "0" "00000" "CHM_000591" "g.85119637A>G" "" "{PMID:Gao 2020:32487042}" "" "c.1960T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832240" "20" "90" "X" "85212923" "85212923" "subst" "0" "00000" "CHM_000048" "g.85212923G>A" "" "{PMID:Gao 2020:32487042}" "" "c.877C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832241" "20" "70" "X" "85156181" "85156181" "del" "0" "00000" "CHM_000599" "g.85156181del" "" "{PMID:Gao 2020:32487042}" "" "c.1257del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832242" "20" "70" "X" "85211203" "85211221" "del" "0" "00000" "CHM_000602" "g.85211203_85211221delAAAAATGGAGTGTTGCCAT" "" "{PMID:Gao 2020:32487042}" "" "c.1103_1121delATGGCAACACTCCATTTTT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832243" "20" "90" "X" "85149291" "85149291" "subst" "0" "00000" "CHM_000596" "g.85149291T>A" "" "{PMID:Gao 2020:32487042}" "" "c.1414-2A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832244" "20" "90" "X" "85166297" "85166297" "subst" "0" "00000" "CHM_000260" "g.85166297G>A" "" "{PMID:Gao 2020:32487042}" "" "c.1213C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832245" "20" "70" "X" "85236814" "85236814" "subst" "0" "00000" "CHM_000486" "g.85236814C>T" "" "{PMID:Gao 2020:32487042}" "" "c.117-1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832246" "20" "90" "X" "85282513" "85282514" "ins" "0" "00000" "CHM_000628" "g.85282513_85282514insTBS" "" "{PMID:Jones 2020:32441177}" "" "c.97_98insSVA, p.(Arg33insSVA)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000832247" "20" "70" "X" "85156103" "85156103" "dup" "0" "00000" "CHM_000346" "g.85156103dup" "" "{PMID:Fioretti 2020:32949230}" "" "c.1335dup" "the splicing alteration restored the reading frame of the mutant transcript, likely leading to an aberrant protein with residual activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832248" "20" "90" "X" "85133986" "85133986" "subst" "0" "00000" "CHM_000592" "g.85133986A>T" "" "{PMID:Hayashi 2020:32985515}" "" "c.1593T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832249" "20" "90" "X" "85212982" "85212982" "subst" "0" "00000" "CHM_000608" "g.85212982T>A" "" "{PMID:Hayashi 2020:32985515}" "" "c.820-2A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832250" "20" "90" "X" "85212982" "85212982" "subst" "0" "00000" "CHM_000608" "g.85212982T>A" "" "{PMID:Hayashi 2020:32985515}" "" "c.820-2A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832251" "20" "90" "X" "85212982" "85212982" "subst" "0" "00000" "CHM_000608" "g.85212982T>A" "" "{PMID:Hayashi 2020:32985515}" "" "c.820-2A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832252" "20" "90" "X" "85211245" "85211245" "del" "0" "00000" "CHM_000603" "g.85211245delT" "" "{PMID:Hayashi 2020:32985515}" "" "c.1079delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832253" "20" "70" "X" "85218845" "85218845" "subst" "0" "00000" "CHM_000616" "g.85218845C>T" "" "{PMID:Hayashi 2020:32985515}" "" "c.527G>A,c.(529G>T;530A>G)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832254" "20" "70" "X" "85218842" "85218843" "delins" "0" "00000" "CHM_000615" "g.85218842_85218843delinsCA" "" "{PMID:Hayashi 2020:32985515}" "" "c.527G>A,c.(529G>T;530A>G)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832255" "20" "50" "X" "85282494" "85282562" "del" "0" "00000" "CHM_000627" "g.85282494_85282562del" "" "{PMID:Hayashi 2020:32985515}" "" "Exon2deletion" "" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000832256" "20" "90" "X" "85211290" "85211290" "subst" "0" "00000" "CHM_000057" "g.85211290G>C" "" "{PMID:Hayashi 2020:32985515}" "" "c.1034C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832257" "20" "90" "X" "85211290" "85211290" "subst" "0" "00000" "CHM_000057" "g.85211290G>C" "" "{PMID:Hayashi 2020:32985515}" "" "c.1034C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832258" "20" "90" "X" "85219054" "85219057" "del" "0" "00000" "CHM_000018" "g.85219054_85219057del" "" "{PMID:Hayashi 2020:32985515}" "" "c.315_318del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832259" "20" "70" "X" "85218726" "85218726" "del" "0" "00000" "CHM_000612" "g.85218726delT" "" "{PMID:Hayashi 2020:32985515}" "" "c.646delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832260" "20" "90" "X" "85213928" "85213928" "subst" "0" "00000" "CHM_000040" "g.85213928G>A" "" "{PMID:Hayashi 2020:32985515}" "" "c.757C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000832261" "20" "70" "X" "85218756" "85218756" "dup" "0" "00000" "CHM_000613" "g.85218756dupT" "" "{PMID:Hayashi 2020:32985515}" "" "c.616dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832262" "20" "70" "X" "85218756" "85218756" "dup" "0" "00000" "CHM_000613" "g.85218756dupT" "" "{PMID:Hayashi 2020:32985515}" "" "c.616dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832263" "20" "70" "X" "85218756" "85218756" "dup" "0" "00000" "CHM_000613" "g.85218756dupT" "" "{PMID:Hayashi 2020:32985515}" "" "c.616dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832264" "20" "50" "X" "85128178" "85128178" "subst" "0" "00000" "CHM_000124" "g.85128178A>G" "" "{PMID:Hayashi 2020:32985515}" "" "c.1649T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000832265" "20" "70" "X" "85218756" "85218756" "dup" "0" "00000" "CHM_000613" "g.85218756dupT" "" "{PMID:Hayashi 2020:32985515}" "" "c.616dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832266" "20" "70" "X" "85218756" "85218756" "dup" "0" "00000" "CHM_000613" "g.85218756dupT" "" "{PMID:Hayashi 2020:32985515}" "" "c.616dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000832267" "20" "50" "X" "85302483" "85302483" "subst" "0" "00000" "CHM_000631" "g.85302483C>T" "" "{PMID:Hayashi 2020:32985515}" "" "c.49+5G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000832268" "20" "50" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Hayashi 2020:32985515}" "" "Deletionof5.0Mb" "" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000832269" "20" "50" "X" "85282490" "85282490" "subst" "0" "00000" "CHM_000626" "g.85282490C>T" "" "{PMID:Hayashi 2020:32985515}" "" "c.116+5G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000832270" "20" "90" "X" "85211186" "85211186" "subst" "0" "00000" "CHM_000059" "g.85211186G>A" "" "{PMID:Vitale 2020:33062396}" "" "c.1138C>T, p.Gln380*" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832271" "20" "90" "X" "85213866" "85213866" "subst" "0" "00000" "CHM_000357" "g.85213866C>A" "" "{PMID:Vitale 2020:33062396}" "" "c.819G>T, p.Gln273His" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832272" "20" "90" "X" "85134069" "85134069" "subst" "0" "00000" "CHM_000246" "g.85134069C>T" "" "{PMID:Vitale 2020:33062396}" "" "c.1511-1G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832273" "20" "30" "X" "85211186" "85211186" "subst" "0" "00000" "CHM_000059" "g.85211186G>A" "" "{PMID:Vitale 2020:33062396}" "" "Gln380*C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" "" "0000832274" "20" "90" "X" "85212911" "85212911" "subst" "0" "00000" "CHM_000284" "g.85212911T>A" "" "{PMID:Vitale 2020:33062396}" "" "c.889A>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832275" "20" "90" "X" "85213886" "85213886" "subst" "0" "00000" "CHM_000043" "g.85213886G>A" "" "{PMID:Vitale 2020:33062396}" "" "c.799C>T, p.Arg267*" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832276" "20" "90" "X" "85282494" "85282494" "subst" "0" "00000" "CHM_000009" "g.85282494C>T" "" "{PMID:Vitale 2020:33062396}" "" "c.116+1G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832277" "20" "90" "X" "85211186" "85211186" "subst" "0" "00000" "CHM_000059" "g.85211186G>A" "" "{PMID:Vitale 2020:33062396}" "" "c.1138C>T, p.Gln380*" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832278" "20" "90" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Vitale 2020:33062396}" "" "Ser233Ter" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832279" "20" "90" "X" "85211186" "85211186" "subst" "0" "00000" "CHM_000059" "g.85211186G>A" "" "{PMID:Vitale 2020:33062396}" "" "c.1138C>T, p.Gln380*" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832280" "20" "90" "X" "85211186" "85211186" "subst" "0" "00000" "CHM_000059" "g.85211186G>A" "" "{PMID:Vitale 2020:33062396}" "" "c.1138C>T, p.Gln380*" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832281" "20" "90" "X" "85282494" "85282494" "subst" "0" "00000" "CHM_000009" "g.85282494C>T" "" "{PMID:Vitale 2020:33062396}" "" "c.116+1G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832282" "20" "90" "X" "85233896" "85233896" "subst" "0" "00000" "CHM_000621" "g.85233896C>A" "" "{PMID:Ortiz-ramirez 2020:32835561}" "" "c.190-1G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832283" "0" "90" "X" "85233896" "85233896" "subst" "0" "00000" "CHM_000621" "g.85233896C>A" "" "{PMID:Ortiz-ramirez 2020:32835561}" "" "c.190-1G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832284" "20" "90" "X" "85149265" "85149265" "subst" "0" "00000" "CHM_000595" "g.85149265C>A" "" "{PMID:Iftikhar 2019:31253224}" "" "p.E480X:c.1438G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000832287" "20" "90" "X" "85155705" "85155706" "delins" "0" "00000" "CHM_000070" "g.85155705_85155706delinsC" "" "{PMID:McLaren 2020:33110609}" "" "c.1358_1359delinsG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832288" "20" "90" "X" "85116185" "85302566" "del" "0" "00000" "CHM_000589" "g.85116185_85302566del" "" "{PMID:McLaren 2020:33110609}" "" "c.(?_-1)_(*1_?)del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832289" "20" "90" "X" "85116185" "85302566" "del" "0" "00000" "CHM_000589" "g.85116185_85302566del" "" "{PMID:McLaren 2020:33110609}" "" "c.(?_-1)_(*1_?)del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832290" "0" "90" "X" "85116185" "85302566" "del" "0" "00000" "CHM_000589" "g.85116185_85302566del" "" "{PMID:McLaren 2020:33110609}" "" "c.(?_-1)_(*1_?)del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832291" "20" "90" "X" "85133992" "85133995" "del" "0" "00000" "CHM_000083" "g.85133992_85133995del" "" "{PMID:McLaren 2020:33110609}" "" "c.1584_1587del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832292" "20" "90" "X" "85133992" "85133995" "del" "0" "00000" "CHM_000083" "g.85133992_85133995del" "" "{PMID:McLaren 2020:33110609}" "" "c.1584_1587del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832293" "0" "90" "X" "85133992" "85133995" "del" "0" "00000" "CHM_000083" "g.85133992_85133995del" "" "{PMID:McLaren 2020:33110609}" "" "c.1584_1587del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832294" "0" "90" "X" "85133992" "85133995" "del" "0" "00000" "CHM_000083" "g.85133992_85133995del" "" "{PMID:McLaren 2020:33110609}" "" "c.1584_1587del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832295" "0" "90" "X" "85133992" "85133995" "del" "0" "00000" "CHM_000083" "g.85133992_85133995del" "" "{PMID:McLaren 2020:33110609}" "" "c.1584_1587del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832296" "20" "90" "X" "85213886" "85213886" "subst" "0" "00000" "CHM_000043" "g.85213886G>A" "" "{PMID:McLaren 2020:33110609}" "" "c.799C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832297" "20" "90" "X" "85213886" "85213886" "subst" "0" "00000" "CHM_000043" "g.85213886G>A" "" "{PMID:McLaren 2020:33110609}" "" "c.799C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832298" "0" "90" "X" "85213886" "85213886" "subst" "0" "00000" "CHM_000043" "g.85213886G>A" "" "{PMID:McLaren 2020:33110609}" "" "c.799C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832299" "0" "70" "X" "85212981" "85212981" "subst" "0" "00000" "CHM_000607" "g.85212981C>T" "" "{PMID:McLaren 2020:33110609}" "" "c.820-1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000832300" "20" "90" "X" "85218783" "85218783" "dup" "0" "00000" "CHM_000614" "g.85218783dup" "" "{PMID:McLaren 2020:33110609}" "" "c.589dup" "" "De novo" "no" "" "0" "" "" "" "" "pathogenic" "" "0000832301" "20" "90" "X" "85302487" "85302487" "subst" "0" "00000" "CHM_000542" "g.85302487C>A" "" "{PMID:McLaren 2020:33110609}" "" "c.49+1G>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832302" "0" "90" "X" "85302487" "85302487" "subst" "0" "00000" "CHM_000542" "g.85302487C>A" "" "{PMID:McLaren 2020:33110609}" "" "c.49+1G>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832303" "0" "90" "X" "85302487" "85302487" "subst" "0" "00000" "CHM_000542" "g.85302487C>A" "" "{PMID:McLaren 2020:33110609}" "" "c.49+1G>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832304" "0" "90" "X" "85211309" "85211314" "delins" "0" "00000" "CHM_000604" "g.85211309_85211314delinsTG" "" "{PMID:McLaren 2020:33110609}" "" "c.1010_1015delinsCA" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832305" "20" "90" "X" "85211309" "85211314" "delins" "0" "00000" "CHM_000604" "g.85211309_85211314delinsTG" "" "{PMID:McLaren 2020:33110609}" "" "c.1010_1015delinsCA" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832306" "20" "90" "X" "85156151" "85156152" "del" "0" "00000" "CHM_000064" "g.85156151_85156152del" "" "{PMID:McLaren 2020:33110609}" "" "c.1286_1287del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832307" "20" "90" "X" "85156151" "85156152" "del" "0" "00000" "CHM_000064" "g.85156151_85156152del" "" "{PMID:McLaren 2020:33110609}" "" "c.1286_1287del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832308" "0" "90" "X" "85156151" "85156152" "del" "0" "00000" "CHM_000064" "g.85156151_85156152del" "" "{PMID:McLaren 2020:33110609}" "" "c.1286_1287del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832309" "0" "90" "X" "85156151" "85156152" "del" "0" "00000" "CHM_000064" "g.85156151_85156152del" "" "{PMID:McLaren 2020:33110609}" "" "c.1286_1287del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832310" "20" "90" "X" "85117673" "85119827" "del" "0" "00000" "CHM_000590" "g.85117673_85119827del" "" "{PMID:McLaren 2020:33110609}" "" "c.(1770+1_1771-1)_(*1962_?)del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832311" "0" "90" "X" "85117673" "85119827" "del" "0" "00000" "CHM_000590" "g.85117673_85119827del" "" "{PMID:McLaren 2020:33110609}" "" "c.(1770+1_1771-1)_(*1962_?)del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832312" "20" "90" "X" "85213970" "85213970" "subst" "5.61126E-6" "00000" "CHM_000037" "g.85213970G>A" "" "{PMID:McLaren 2020:33110609}" "" "c.715C>T" "" "De novo" "no" "" "0" "" "" "" "" "pathogenic" "" "0000832313" "20" "90" "X" "85117673" "85119827" "del" "0" "00000" "CHM_000590" "g.85117673_85119827del" "" "{PMID:McLaren 2020:33110609}" "" "c.(1770+1_1771-1)_(*1962_?)del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832314" "0" "90" "X" "85117673" "85119827" "del" "0" "00000" "CHM_000590" "g.85117673_85119827del" "" "{PMID:McLaren 2020:33110609}" "" "c.(1770+1_1771-1)_(*1962_?)del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832315" "0" "90" "X" "85213917" "85213918" "del" "0" "00000" "CHM_000609" "g.85213917_85213918del" "" "{PMID:McLaren 2020:33110609}" "" "c.767_768del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832316" "20" "90" "X" "85213917" "85213918" "del" "0" "00000" "CHM_000609" "g.85213917_85213918del" "" "{PMID:McLaren 2020:33110609}" "" "c.767_768del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832317" "20" "90" "X" "85211324" "85211325" "ins" "0" "00000" "CHM_000605" "g.85211324_85211325insA" "" "{PMID:McLaren 2020:33110609}" "" "c.999_1000insT" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000832318" "0" "90" "X" "85211324" "85211325" "ins" "0" "00000" "CHM_000605" "g.85211324_85211325insA" "" "{PMID:McLaren 2020:33110609}" "" "c.999_1000insT" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845284" "20" "70" "X" "85218843" "85218843" "del" "0" "00000" "CHM_000024" "g.85218843del" "" "{PMID:Dubis 2021:33440637}" "" "c.529delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845285" "20" "70" "X" "85155650" "85156194" "del" "0" "00000" "CHM_000639" "g.85155650_85156194del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion of exon 10-11" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845286" "20" "70" "X" "85116185" "85134069" "del" "0" "00000" "CHM_000634" "g.85116185_85134069del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion of exon 13-15." "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845287" "20" "70" "X" "85218834" "85218837" "del" "0" "00000" "CHM_000318" "g.85218834_85218837del" "" "{PMID:Dubis 2021:33440637}" "" "c.535_538delGAAA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845288" "20" "70" "X" "85302487" "85302567" "del" "0" "00000" "CHM_000653" "g.85302487_85302567del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion of exon 1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845289" "20" "70" "X" "85218720" "85218723" "del" "0" "00000" "CHM_000033" "g.85218720_85218723del" "" "{PMID:Dubis 2021:33440637}" "" "c.649_652delTACT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845290" "20" "70" "X" "85218720" "85218723" "del" "0" "00000" "CHM_000033" "g.85218720_85218723del" "" "{PMID:Dubis 2021:33440637}" "" "c.649_652delTACT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845291" "20" "70" "X" "1" "1" "del" "0" "00000" "CHM_000633" "g.0" "" "{PMID:Dubis 2021:33440637}" "" "REP1 deletion" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845292" "20" "70" "X" "0" "0" "delins" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Dubis 2021:33440637}" "" "c.1245_1246delins14" "Only the insertion of a sequence or a range is implemented." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845293" "20" "70" "X" "85155650" "85302567" "del" "0" "00000" "CHM_000640" "g.85155650_85302567del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion of exons 1-11" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845294" "20" "70" "X" "85133992" "85133995" "del" "0" "00000" "CHM_000083" "g.85133992_85133995del" "" "{PMID:Dubis 2021:33440637}" "" "c.1584_1587delTGTT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845295" "20" "70" "X" "85116185" "85156194" "del" "0" "00000" "CHM_000635" "g.85116185_85156194del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion of exon 10-15" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845296" "20" "70" "X" "1" "1" "del" "0" "00000" "CHM_000633" "g.0" "" "{PMID:Dubis 2021:33440637}" "" "REP1 deletion" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845297" "20" "70" "X" "85213944" "85213948" "del" "0" "00000" "CHM_000258" "g.85213944_85213948del" "" "{PMID:Dubis 2021:33440637}" "" "c.737_741delTAATC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845298" "20" "70" "X" "85133969" "85149290" "del" "0" "00000" "CHM_000638" "g.85133969_85149290del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion of exon 12-13" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845299" "20" "70" "X" "85218717" "85218720" "del" "0" "00000" "CHM_000034" "g.85218717_85218720del" "" "{PMID:Dubis 2021:33440637}" "" "c.652_655delTCAC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845300" "20" "70" "X" "85211245" "85211245" "del" "0" "00000" "CHM_000329" "g.85211245del" "" "{PMID:Dubis 2021:33440637}" "" "c.1079delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845301" "20" "70" "X" "85116185" "85236814" "del" "0" "00000" "CHM_000636" "g.85116185_85236814del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion of exon 3-15" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845302" "20" "70" "X" "85211157" "85219058" "del" "0" "00000" "CHM_000642" "g.85211157_85219058del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion of exon 5-8" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845303" "20" "70" "X" "85236740" "85236814" "del" "0" "00000" "CHM_000649" "g.85236740_85236814del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion of exon 3" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845304" "20" "70" "X" "85212859" "85282562" "del" "0" "00000" "CHM_000644" "g.85212859_85282562del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion of exon 2-7" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845305" "20" "70" "X" "85156135" "85156138" "del" "0" "00000" "CHM_000334" "g.85156135_85156138del" "" "{PMID:Dubis 2021:33440637}" "" "c.1300_1303delGTGG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845306" "20" "70" "X" "85218846" "85218847" "del" "0" "00000" "CHM_000022" "g.85218846_85218847del" "" "{PMID:Dubis 2021:33440637}" "" "c.525_526delAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845307" "20" "70" "X" "85211245" "85211245" "del" "0" "00000" "CHM_000329" "g.85211245del" "" "{PMID:Dubis 2021:33440637}" "" "c.1079delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845308" "20" "70" "X" "85166265" "85166344" "del" "0" "00000" "CHM_000641" "g.85166265_85166344del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion exon 9" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845309" "20" "70" "X" "85218846" "85218847" "del" "0" "00000" "CHM_000022" "g.85218846_85218847del" "" "{PMID:Dubis 2021:33440637}" "" "c.525_526delAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845310" "20" "70" "X" "85233770" "85236814" "del" "0" "00000" "CHM_000648" "g.85233770_85236814del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion exon 3-4" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845311" "20" "70" "X" "85218879" "85218880" "del" "0" "00000" "CHM_000317" "g.85218879_85218880del" "" "{PMID:Dubis 2021:33440637}" "" "c.492_493delGA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845312" "20" "70" "X" "85218879" "85218880" "del" "0" "00000" "CHM_000317" "g.85218879_85218880del" "" "{PMID:Dubis 2021:33440637}" "" "c.492_493delGA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845313" "20" "70" "X" "85166265" "85166344" "del" "0" "00000" "CHM_000641" "g.85166265_85166344del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion exon 9" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845314" "20" "70" "X" "85128062" "85128065" "del" "0" "00000" "CHM_000340" "g.85128062_85128065del" "" "{PMID:Dubis 2021:33440637}" "" "c.1762_1765delGTCA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845315" "20" "70" "X" "85116185" "85156194" "del" "0" "00000" "CHM_000635" "g.85116185_85156194del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion of exon 10-15" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845316" "20" "70" "X" "85212914" "85212914" "del" "0" "00000" "CHM_000345" "g.85212914del" "" "{PMID:Dubis 2021:33440637}" "" "c.886delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845317" "20" "70" "X" "85218879" "85218880" "del" "0" "00000" "CHM_000647" "g.85218879_85218880delTC" "" "{PMID:Dubis 2021:33440637}" "" "c492_493delGA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845318" "20" "70" "X" "85116185" "85302567" "del" "0" "00000" "CHM_000637" "g.85116185_85302567del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion of exon 1-15" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845319" "20" "70" "X" "85212920" "85212928" "del" "0" "00000" "CHM_000324" "g.85212920_85212928del" "" "{PMID:Dubis 2021:33440637}" "" "c.872_880del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845320" "20" "70" "X" "85218717" "85218720" "del" "0" "00000" "CHM_000034" "g.85218717_85218720del" "" "{PMID:Dubis 2021:33440637}" "" "c.652_655delTCAC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845321" "20" "70" "X" "85116185" "85302567" "del" "0" "00000" "CHM_000637" "g.85116185_85302567del" "" "{PMID:Dubis 2021:33440637}" "" "Deletion of exon 1-15" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845322" "20" "70" "X" "85236751" "85236751" "del" "0" "00000" "CHM_000344" "g.85236751del" "" "{PMID:Dubis 2021:33440637}" "" "c.179delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845323" "20" "70" "X" "1" "1" "del" "0" "00000" "CHM_000633" "g.0" "" "{PMID:Dubis 2021:33440637}" "" "REP1 deletion" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845324" "20" "70" "X" "1" "1" "del" "0" "00000" "CHM_000633" "g.0" "" "{PMID:Dubis 2021:33440637}" "" "REP1 deletion" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845325" "20" "70" "X" "1" "1" "del" "0" "00000" "CHM_000633" "g.0" "" "{PMID:Dubis 2021:33440637}" "" "REP1 deletion" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845326" "20" "70" "X" "85156103" "85156103" "dup" "0" "00000" "CHM_000346" "g.85156103dup" "" "{PMID:Dubis 2021:33440637}" "" "c.1335dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845327" "20" "70" "X" "85218877" "85218877" "dup" "0" "00000" "CHM_000646" "g.85218877dup" "" "{PMID:Dubis 2021:33440637}" "" "c.495dupT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845328" "20" "70" "X" "85282494" "85302567" "del" "0" "00000" "CHM_000650" "g.85282494_85302567del" "" "{PMID:Dubis 2021:33440637}" "" "Duplication of exons 1-2 and 9-12" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845329" "20" "70" "X" "85212867" "85212867" "dup" "0" "00000" "CHM_000645" "g.85212867dup" "" "{PMID:Dubis 2021:33440637}" "" "c.931GinsA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845330" "20" "70" "X" "85211224" "85211225" "ins" "0" "00000" "CHM_000347" "g.85211224_85211225insGGTA" "" "{PMID:Dubis 2021:33440637}" "" "c.1099_1100insTACC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845331" "20" "70" "X" "85134059" "85134059" "subst" "0" "00000" "CHM_000120" "g.85134059T>C" "" "{PMID:Dubis 2021:33440637}" "" "c.1520A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845332" "20" "70" "X" "85213970" "85213970" "subst" "5.61126E-6" "00000" "CHM_000037" "g.85213970G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.715C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845333" "20" "70" "X" "85213970" "85213970" "subst" "5.61126E-6" "00000" "CHM_000037" "g.85213970G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.715C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845334" "20" "70" "X" "85236804" "85236804" "subst" "0" "00000" "CHM_000314" "g.85236804G>C" "" "{PMID:Dubis 2021:33440637}" "" "c.126C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845335" "20" "70" "X" "85156174" "85156174" "subst" "0" "00000" "CHM_000333" "g.85156174G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.1264C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845336" "20" "70" "X" "85212923" "85212923" "subst" "0" "00000" "CHM_000048" "g.85212923G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.877C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845337" "20" "70" "X" "85212923" "85212923" "subst" "0" "00000" "CHM_000048" "g.85212923G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.877C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845338" "20" "70" "X" "85213970" "85213970" "subst" "5.61126E-6" "00000" "CHM_000037" "g.85213970G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.715C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845339" "20" "70" "X" "85213970" "85213970" "subst" "5.61126E-6" "00000" "CHM_000037" "g.85213970G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.715C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845340" "20" "70" "X" "85213928" "85213928" "subst" "0" "00000" "CHM_000040" "g.85213928G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.757C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845341" "20" "70" "X" "85213928" "85213928" "subst" "0" "00000" "CHM_000040" "g.85213928G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.757C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845342" "20" "70" "X" "85212923" "85212923" "subst" "0" "00000" "CHM_000048" "g.85212923G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.877C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845343" "20" "70" "X" "85213970" "85213970" "subst" "5.61126E-6" "00000" "CHM_000037" "g.85213970G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.715C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845344" "20" "70" "X" "85213886" "85213886" "subst" "0" "00000" "CHM_000043" "g.85213886G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.799C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845345" "20" "70" "X" "85212923" "85212923" "subst" "0" "00000" "CHM_000048" "g.85212923G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.877C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845346" "20" "70" "X" "85212923" "85212923" "subst" "0" "00000" "CHM_000048" "g.85212923G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.877C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845347" "20" "70" "X" "85212923" "85212923" "subst" "0" "00000" "CHM_000048" "g.85212923G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.877C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845348" "20" "70" "X" "85236800" "85236800" "subst" "0" "00000" "CHM_000010" "g.85236800C>A" "" "{PMID:Dubis 2021:33440637}" "" "c.130G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845349" "20" "70" "X" "85213886" "85213886" "subst" "0" "00000" "CHM_000043" "g.85213886G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.799C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845350" "20" "70" "X" "85218717" "85218717" "subst" "0" "00000" "CHM_000348" "g.85218717G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.655C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845351" "20" "70" "X" "85213877" "85213877" "subst" "0" "00000" "CHM_000044" "g.85213877G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.808C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845352" "20" "70" "X" "85213877" "85213877" "subst" "0" "00000" "CHM_000044" "g.85213877G>A" "" "{PMID:Dubis 2021:33440637}" "" "c.808C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845353" "20" "70" "X" "85212857" "85212857" "del" "0" "00000" "CHM_000643" "g.85212857delT" "" "{PMID:Dubis 2021:33440637}" "" "c.940+3delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845354" "20" "70" "X" "85236740" "85236740" "subst" "0" "00000" "CHM_000316" "g.85236740C>G" "" "{PMID:Dubis 2021:33440637}" "" "c.189+1G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845355" "20" "70" "X" "85302485" "85302485" "del" "0" "00000" "CHM_000651" "g.85302485delT" "" "{PMID:Dubis 2021:33440637}" "" "c.49+3delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845356" "20" "70" "X" "85211384" "85211385" "delins" "0" "00000" "USP9X_000005" "g.85211384_85211385delinsCT" "" "{PMID:Dubis 2021:33440637}" "" "c.941-2GT>AG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845357" "20" "70" "X" "85156194" "85156194" "subst" "0" "00000" "CHM_000332" "g.85156194C>T" "" "{PMID:Dubis 2021:33440637}" "" "c.1245-1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845358" "20" "70" "X" "85156194" "85156194" "subst" "0" "00000" "CHM_000332" "g.85156194C>T" "" "{PMID:Dubis 2021:33440637}" "" "c.1245-1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845359" "20" "70" "X" "85302478" "85302485" "delins" "0" "00000" "CHM_000312" "g.85302478_85302485delinsAAGC" "" "{PMID:Dubis 2021:33440637}" "" "c.49+3_49+10delinsGCTT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845360" "20" "70" "X" "85282494" "85282494" "subst" "0" "00000" "CHM_000009" "g.85282494C>T" "" "{PMID:Dubis 2021:33440637}" "" "c.116+1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845361" "20" "70" "X" "85302486" "85302486" "dup" "0" "00000" "CHM_000652" "g.85302486dupA" "" "{PMID:Dubis 2021:33440637}" "" "c.49+2dupT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845362" "20" "70" "X" "85213865" "85213865" "subst" "0" "00000" "CHM_000201" "g.85213865C>A" "" "{PMID:Dubis 2021:33440637}" "" "c.819+1G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000845363" "20" "70" "X" "85212858" "85212858" "subst" "0" "00000" "CHM_000326" "g.85212858A>G" "" "{PMID:Dubis 2021:33440637}" "" "c.940+2T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000856827" "0" "90" "X" "85156087" "85156089" "dup" "0" "01943" "CHM_000067" "g.85156087_85156089dup" "" "" "" "CHM(NM_000390.2):c.1349+2_1349+3insGGT (p.?), CHM(NM_001362517.1):c.905+2_905+3insACC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856828" "0" "70" "X" "85156195" "85156195" "subst" "0" "02330" "CHM_000656" "g.85156195T>G" "" "" "" "CHM(NM_001362517.1):c.801-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000867602" "0" "30" "X" "85119773" "85119773" "subst" "0" "01943" "CHM_000654" "g.85119773T>C" "" "" "" "CHM(NM_000390.2):c.1824A>G (p.P608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867603" "0" "30" "X" "85119795" "85119795" "subst" "0.00284063" "01804" "CHM_000655" "g.85119795T>C" "" "" "" "CHM(NM_000390.2):c.1802A>G (p.(Asn601Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867604" "0" "90" "X" "85213861" "85213866" "del" "0" "02327" "CHM_000657" "g.85213861_85213866del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000873644" "0" "70" "X" "85149247" "85149247" "dup" "0" "00000" "CHM_000658" "g.85149247dup" "244" "{PMID:Sun 2018:30076350}" "" "CHM(NM_000390.2):c.1456_1457insG(p.A486Gfs*6 ); GUCY2D(NM_000180.3):c.2375C>T(p.P792L )" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.85894242dup" "" "likely pathogenic" "" "0000896385" "0" "90" "X" "85213970" "85213970" "subst" "5.61126E-6" "02330" "CHM_000037" "g.85213970G>A" "" "" "" "CHM(NM_001362517.1):c.271C>T (p.R91*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896596" "21" "90" "X" "85212947" "85212947" "dup" "0" "00000" "CHM_000250" "g.85212947dup" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "CHM c.[855dupA];[0]; p.(Gln286ThrfsTer21)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.85957942dup" "" "pathogenic" "" "0000896608" "21" "90" "X" "85133997" "85134000" "del" "0" "00000" "CHM_000083" "g.85133997_85134000del" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "CHM c.[1584_1587del];[0]; p.(Val529HisfsTer7)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.85878992_85878995del" "" "pathogenic" "" "0000915772" "0" "30" "X" "85133998" "85133998" "subst" "0" "02327" "CHM_000659" "g.85133998C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915773" "0" "30" "X" "85211224" "85211224" "subst" "0.00102662" "02326" "CHM_000001" "g.85211224C>T" "" "" "" "CHM(NM_000390.2):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915774" "0" "50" "X" "85213969" "85213969" "subst" "1.12223E-5" "02325" "CHM_000500" "g.85213969C>T" "" "" "" "CHM(NM_000390.4):c.716G>A (p.R239Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915775" "0" "30" "X" "85233847" "85233847" "subst" "0.00258011" "02325" "CHM_000418" "g.85233847G>A" "" "" "" "CHM(NM_000390.2):c.238C>T (p.(Leu80Phe)), CHM(NM_000390.4):c.238C>T (p.L80F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915776" "0" "90" "X" "85236814" "85236814" "subst" "0" "02327" "CHM_000486" "g.85236814C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000916037" "11" "90" "X" "85218720" "85218723" "del" "0" "04436" "CHM_000033" "g.85218720_85218723del" "" "{PMID:Panneman 2023:36819107}" "" "c.649_652del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916571" "11" "90" "X" "85282528" "85282528" "subst" "0" "04436" "CHM_000629" "g.85282528G>C" "" "{PMID:Panneman 2023:36819107}" "" "c.83C>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916744" "11" "90" "X" "85236800" "85236800" "subst" "0" "04436" "CHM_000010" "g.85236800C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.130G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000931471" "0" "70" "X" "85220593" "85220593" "subst" "0" "02327" "CHM_000283" "g.85220593T>C" "" "" "" "CHM(NM_000390.4):c.315-1536A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951800" "0" "30" "X" "85128069" "85128069" "subst" "2.82002E-5" "02330" "CHM_000660" "g.85128069A>G" "" "" "" "CHM(NM_001362517.1):c.1314T>C (p.N438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951801" "0" "70" "X" "85133969" "85133969" "subst" "0" "02330" "CHM_000661" "g.85133969C>T" "" "" "" "CHM(NM_001362517.1):c.1165+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951802" "0" "90" "X" "85149262" "85149262" "subst" "0" "02327" "CHM_000662" "g.85149262C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000957954" "0" "50" "X" "85218695" "85218695" "subst" "0" "03779" "CHM_000665" "g.85218695C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1930411301" "0" "" "" "" "" "VUS" "" "0000958126" "1" "90" "X" "85282494" "85282494" "subst" "0" "00006" "CHM_000009" "g.85282494C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.86027490C>T" "" "pathogenic (dominant)" "ACMG" "0000958127" "1" "90" "X" "85128183" "85128183" "subst" "0" "00006" "CHM_000088" "g.85128183C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.85873178C>T" "" "pathogenic (dominant)" "ACMG" "0000958128" "1" "90" "X" "85128183" "85128183" "subst" "0" "00006" "CHM_000088" "g.85128183C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.85873178C>T" "" "pathogenic (dominant)" "ACMG" "0000958129" "0" "70" "X" "85223644" "85223644" "subst" "0" "00006" "CHM_000019" "g.85223644A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.85968639A>T" "" "likely pathogenic (dominant)" "ACMG" "0000958130" "1" "90" "X" "85211384" "85211384" "subst" "0" "00006" "CHM_000397" "g.85211384C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.85956379C>A" "" "pathogenic (dominant)" "ACMG" "0000958131" "1" "90" "X" "85213877" "85213877" "subst" "0" "00006" "CHM_000044" "g.85213877G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.85958872G>A" "143078" "pathogenic (dominant)" "ACMG" "0000958132" "1" "70" "X" "85201597" "85214103" "del" "0" "00006" "CHM_000663" "g.85201597_85214103del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.85946592_85959098del" "" "likely pathogenic (dominant)" "ACMG" "0000958133" "1" "90" "X" "85233824" "85233825" "dup" "0" "00006" "CHM_000513" "g.85233824_85233825dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.85978820_85978821dup" "" "pathogenic (dominant)" "ACMG" "0000958134" "0" "70" "X" "84785132" "86225549" "del" "0" "00006" "USP9X_000005" "g.84785132_86225549del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000958135" "1" "70" "X" "84646897" "85634486" "del" "0" "00006" "USP9X_000005" "g.84646897_85634486del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000958136" "1" "90" "X" "85218846" "85218847" "del" "0" "00006" "CHM_000022" "g.85218846_85218847del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.85963841_85963842del" "" "pathogenic (dominant)" "ACMG" "0000958137" "0" "70" "X" "85155694" "85155694" "subst" "0" "00006" "CHM_000239" "g.85155694A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.85900689A>G" "1275780" "likely pathogenic (dominant)" "ACMG" "0000958371" "0" "90" "X" "85213970" "85213970" "subst" "5.61126E-6" "00006" "CHM_000037" "g.85213970G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.85958965G>A" "" "pathogenic (dominant)" "ACMG" "0000958870" "0" "50" "X" "85211266" "85211266" "subst" "5.60793E-6" "00006" "CHM_000664" "g.85211266T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.85956261T>C" "" "VUS" "ACMG" "0000971381" "0" "90" "X" "85211235" "85211235" "del" "0" "02327" "CHM_000277" "g.85211235del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984884" "0" "50" "X" "85119649" "85119649" "subst" "0" "01804" "CHM_000666" "g.85119649C>T" "" "" "" "CHM(NM_000390.4):c.1948G>A (p.(Glu650Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984885" "0" "30" "X" "85155709" "85155709" "subst" "3.5929E-5" "01804" "CHM_000667" "g.85155709A>T" "" "" "" "CHM(NM_000390.4):c.1355T>A (p.(Ile452Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006999" "0" "90" "X" "85236744" "85236744" "subst" "0" "02327" "CHM_000668" "g.85236744G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001007000" "0" "30" "X" "85282496" "85282496" "subst" "0" "01804" "CHM_000669" "g.85282496A>C" "" "" "" "CHM(NM_000390.2):c.115T>G (p.(Ser39Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016062" "0" "90" "X" "85213877" "85213877" "subst" "0" "02330" "CHM_000044" "g.85213877G>A" "" "" "" "CHM(NM_001362517.1):c.364C>T (p.R122*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001016063" "0" "30" "X" "85233900" "85233900" "subst" "6.77671E-5" "02325" "CHM_000670" "g.85233900A>G" "" "" "" "CHM(NM_000390.4):c.190-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044534" "0" "50" "X" "85119800" "85119800" "subst" "0" "01804" "CHM_000671" "g.85119800G>C" "" "" "" "CHM(NM_000390.4):c.1797C>G (p.(Cys599Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044535" "0" "30" "X" "85226596" "85226596" "subst" "0.00432115" "01804" "CHM_000672" "g.85226596G>C" "" "" "" "CHM(NM_001145414.4):c.315-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049833" "20" "70" "X" "85237775" "85237775" "subst" "0" "00006" "CHM_000673" "g.85237775C>G" "" "{PMID:Hussain 2023:36833373}" "" "effect on splicing predictedf rom mini-gene splicing assay" "" "Germline" "" "" "0" "" "" "g.85982771C>G" "" "likely pathogenic (recessive)" "" "0001057383" "0" "50" "X" "85302499" "85302499" "subst" "0" "01804" "CHM_000674" "g.85302499A>G" "" "" "" "CHM(NM_000390.4):c.38T>C (p.(Val13Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CHM ## Count = 1080 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein/Domain}}" "0000003082" "00000927" "50" "116" "215" "116" "216" "c.116+215_116+216insCCTTT" "r.(?)" "p.(=)" "2i" "" "0000007240" "00000927" "50" "116" "80" "116" "80" "c.116+80C>T" "r.(?)" "p.(=)" "2i" "" "0000009341" "00000927" "50" "116" "80" "116" "80" "c.116+80C>T" "r.(?)" "p.(=)" "2i" "" "0000011065" "00000927" "50" "116" "215" "116" "216" "c.116+215_116+216insCCTTT" "r.(?)" "p.(=)" "2i" "" "0000011066" "00000927" "50" "50" "-214" "50" "-214" "c.50-214del" "r.(?)" "p.(=)" "1i" "" "0000247737" "00000927" "10" "1380" "0" "1380" "0" "c.1380T>C" "r.(?)" "p.(Asp460=)" "11" "" "0000247747" "00000927" "10" "1244" "8" "1244" "8" "c.1244+8T>A" "r.(=)" "p.(=)" "9i" "" "0000254538" "00000927" "30" "1008" "0" "1008" "0" "c.1008T>C" "r.(?)" "p.(Ile336=)" "8" "" "0000266793" "00000927" "10" "351" "0" "351" "0" "c.351A>G" "r.(?)" "p.(Ala117=)" "5" "" "0000273534" "00000927" "50" "1100" "0" "1100" "0" "c.1100G>T" "r.(?)" "p.(Arg367Leu)" "8" "" "0000273535" "00000927" "30" "162" "0" "162" "0" "c.162A>G" "r.(?)" "p.(Gly54=)" "3" "" "0000273536" "00000927" "50" "1753" "0" "1753" "0" "c.1753G>A" "r.(?)" "p.(Asp585Asn)" "14" "" "0000273537" "00000927" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267Ter)" "6" "" "0000273538" "00000927" "30" "825" "0" "825" "0" "c.825G>A" "r.(?)" "p.(Pro275=)" "7" "" "0000273539" "00000927" "30" "8" "0" "8" "0" "c.8A>G" "r.(?)" "p.(Asp3Gly)" "1" "" "0000334813" "00000927" "30" "1922" "0" "1933" "0" "c.1922_1933dup" "r.(?)" "p.(Asn644_Leu645insGlnSerThrAsn)" "15" "" "0000334814" "00000927" "50" "1349" "0" "1349" "2" "c.1349_1349+2dup" "r.spl?" "p.?" "10_10i" "" "0000334815" "00000927" "30" "1244" "8" "1244" "8" "c.1244+8T>A" "r.(=)" "p.(=)" "9i" "" "0000334816" "00000927" "30" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Leu80Phe)" "4" "" "0000338821" "00000927" "90" "941" "-1" "941" "-1" "c.941-1G>A" "r.spl?" "p.?" "7i" "" "0000338822" "00000927" "90" "315" "-1" "315" "-1" "c.315-1G>C" "r.spl?" "p.?" "4i" "" "0000338823" "00000927" "90" "190" "-2" "190" "-2" "c.190-2A>G" "r.spl?" "p.?" "3i" "" "0000338824" "00000927" "90" "116" "1" "116" "1" "c.116+1G>A" "r.spl?" "p.?" "2i" "" "0000340492" "00000927" "30" "720" "0" "720" "0" "c.720A>T" "r.(?)" "p.(Gly240=)" "6" "" "0000340493" "00000927" "10" "351" "0" "351" "0" "c.351A>G" "r.(?)" "p.(Ala117=)" "5" "" "0000342478" "00000927" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267Ter)" "6" "" "0000342493" "00000927" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Ter)" "6" "" "0000344490" "00000927" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Gln106Ter)" "5" "" "0000345183" "00000927" "90" "517" "0" "517" "0" "c.517G>T" "r.(?)" "p.(Glu173Ter)" "5" "" "0000345192" "00000927" "90" "535" "0" "535" "0" "c.535G>T" "r.(?)" "p.(Glu179Ter)" "5" "" "0000348847" "00000927" "90" "698" "0" "698" "0" "c.698C>A" "r.(?)" "p.(Ser233Ter)" "5" "" "0000349849" "00000927" "90" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Trp75Ter)" "4" "" "0000350139" "00000927" "90" "1695" "0" "1695" "0" "c.1695T>A" "r.(?)" "p.(Tyr565Ter)" "14" "" "0000351388" "00000927" "10" "940" "20" "940" "20" "c.940+20G>C" "r.(=)" "p.(=)" "7i" "" "0000351389" "00000927" "90" "940" "2" "940" "2" "c.940+2T>C" "r.spl?" "p.?" "7i" "" "0000351390" "00000927" "90" "820" "-2" "820" "-2" "c.820-2A>G" "r.spl?" "p.?" "6i" "" "0000369374" "00000927" "99" "-90" "0" "-90" "0" "-" "r.0?" "p.0?" "_1" "" "0000369375" "00000927" "77" "-108" "0" "-108" "0" "-" "r.0?" "p.0?" "_1" "" "0000369376" "00000927" "99" "884" "0" "885" "0" "c.884_885ins[AluYa5,870_884]" "r.[884_940delins29,884_940delins61]" "p.[Leu_296_Lys313delinsTrpGluAlaGluAlaGlyGlySerArg,Leu296fs*31]" "07" "" "0000377691" "00000927" "55" "1100" "0" "1100" "0" "c.1100G>A" "r.(?)" "p.(Arg367Gln)" "8" "CHM" "0000377692" "00000927" "11" "265" "0" "265" "0" "c.265A>T" "r.(?)" "p.(Ser89Cys)" "4" "" "0000377693" "00000927" "11" "265" "0" "265" "0" "c.265A>T" "r.(?)" "p.(Ser89Cys)" "4" "" "0000377694" "00000927" "11" "265" "0" "265" "0" "c.265A>T" "r.(?)" "p.(Ser89Cys)" "4" "" "0000377695" "00000927" "11" "265" "0" "265" "0" "c.265A>T" "r.(?)" "p.(Ser89Cys)" "4" "" "0000377696" "00000927" "11" "265" "0" "265" "0" "c.265A>T" "r.(?)" "p.(Ser89Cys)" "4" "" "0000377697" "00000927" "11" "265" "0" "265" "0" "c.265A>T" "r.(?)" "p.(Ser89Cys)" "4" "" "0000377698" "00000927" "11" "265" "0" "265" "0" "c.265A>T" "r.(?)" "p.(Ser89Cys)" "4" "" "0000377699" "00000927" "11" "351" "0" "351" "0" "c.351A>G" "r.(?)" "p.(=)" "5" "" "0000377700" "00000927" "11" "351" "0" "351" "0" "c.351A>G" "r.351a>g" "p.=" "5" "" "0000377702" "00000927" "99" "17" "0" "17" "0" "c.17del" "r.(?)" "p.(Pro6Leufs*6)" "1" "" "0000377703" "00000927" "99" "49" "1" "49" "1" "c.49+1G>A" "r.spl" "p.?" "1i" "" "0000377704" "00000927" "99" "49" "5" "49" "5" "c.49+5G>T" "r.spl?" "p.?" "1i" "" "0000377705" "00000927" "99" "49" "5" "49" "5" "c.49+5G>T" "r.spl?" "p.?" "1i" "" "0000377706" "00000927" "99" "50" "-1" "50" "-1" "c.50-1G>C" "r.spl" "p.?" "1i" "" "0000377707" "00000927" "99" "50" "-1" "50" "-1" "c.50-1G>C" "r.spl" "p.?" "1i" "" "0000377708" "00000927" "99" "116" "1" "116" "1" "c.116+1G>A" "r.spl" "p.?" "2i" "" "0000377709" "00000927" "99" "116" "1" "116" "1" "c.116+1G>A" "r.spl" "p.?" "2i" "" "0000377710" "00000927" "99" "116" "1" "116" "1" "c.116+1G>A" "r.spl" "p.?" "2i" "" "0000377711" "00000927" "99" "116" "1" "116" "1" "c.116+1G>A" "r.spl" "p.?" "2i" "" "0000377712" "00000927" "99" "130" "0" "130" "0" "c.130G>T" "r.(?)" "p.(Gly44*)" "3" "" "0000377713" "00000927" "99" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Trp47*)" "3" "" "0000377714" "00000927" "99" "189" "1" "189" "1" "c.189+1G>A" "r.117_189del" "p.(?)" "3i" "" "0000377715" "00000927" "99" "189" "1" "189" "1" "c.189+1G>A" "r.117_189del" "p.(?)" "3i" "" "0000377716" "00000927" "55" "190" "-14" "190" "-14" "c.190-14T>G" "r.(?)" "p.(?)" "3i" "" "0000377717" "00000927" "99" "190" "-2" "190" "-2" "c.190-2A>G" "r.190_197del" "p.(?)" "3i" "" "0000377718" "00000927" "99" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Gln76*)" "4" "" "0000377719" "00000927" "99" "293" "0" "293" "0" "c.293del" "r.(?)" "p.(Val98Glyfs*28)" "4" "" "0000377720" "00000927" "99" "309" "0" "309" "0" "c.309T>G" "r.(?)" "p.(Tyr103*)" "4" "" "0000377721" "00000927" "99" "315" "0" "318" "0" "c.315_318del" "r.(?)" "p.(Ser105Argfs*20)" "5" "" "0000377722" "00000927" "99" "315" "0" "318" "0" "c.315_318del" "r.(?)" "p.(Ser105Argfs*20)" "5" "" "0000377723" "00000927" "99" "315" "0" "318" "0" "c.315_318del" "r.315_318del" "p.Ser105Argfs*20" "5" "" "0000377724" "00000927" "99" "315" "0" "318" "0" "c.315_318del" "r.(?)" "p.(Ser105Argfs*20)" "5" "" "0000377725" "00000927" "99" "315" "-4587" "315" "-4587" "c.315-4587T>A" "r.314_315ins98" "p.(?)" "4i" "" "0000377726" "00000927" "99" "315" "-4587" "315" "-4587" "c.315-4587T>A" "r.314_315ins98" "p.(?)" "4i" "" "0000377727" "00000927" "75" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Gln106*)" "5" "" "0000377728" "00000927" "99" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Val125*)" "5" "" "0000377729" "00000927" "99" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177Lysfs*6)" "5" "" "0000377730" "00000927" "99" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177Lysfs*6)" "5" "" "0000377731" "00000927" "99" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177Lysfs*6)" "5" "" "0000377732" "00000927" "99" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177Lysfs*6)" "5" "" "0000377733" "00000927" "99" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177Lysfs*6)" "5" "" "0000377734" "00000927" "99" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177Lysfs*6)" "5" "" "0000377735" "00000927" "99" "525" "0" "526" "0" "c.525_526del" "r.525_526del" "p.Glu177Lysfs*6" "5" "" "0000377736" "00000927" "99" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177Lysfs*6)" "5" "" "0000377737" "00000927" "99" "529" "0" "529" "0" "c.529G>T" "r.(?)" "p.(Glu177*)" "5" "" "0000377738" "00000927" "99" "529" "0" "529" "0" "c.529del" "r.(?)" "p.(Glu177Lysfs*20)" "5" "" "0000377739" "00000927" "99" "549" "0" "557" "0" "c.549_557delinsAGTTTTCT" "r.(?)" "p.(Asp183Glufs*14)" "5" "" "0000377740" "00000927" "99" "563" "0" "564" "0" "c.563_564del" "r.(?)" "p.(Val188Alafs*10)" "5" "" "0000377741" "00000927" "99" "564" "0" "565" "0" "c.564_565del" "r.(?)" "p.(Pro189Ilefs*9)" "5" "" "0000377742" "00000927" "99" "569" "0" "569" "0" "c.569C>G" "r.(?)" "p.(Ser190*)" "5" "" "0000377743" "00000927" "99" "582" "0" "582" "0" "c.582dup" "r.(?)" "p.(Asp195Argfs*4)" "5" "" "0000377744" "00000927" "99" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Gln209*)" "5" "" "0000377745" "00000927" "99" "627" "0" "627" "0" "c.627dup" "r.(?)" "p.(Pro210Thrfs*13)" "5" "" "0000377746" "00000927" "99" "641" "0" "642" "0" "c.641_642del" "r.(?)" "p.(Arg214Asnfs*8)" "5" "" "0000377747" "00000927" "99" "649" "0" "652" "0" "c.649_652del" "r.(?)" "p.(Tyr217Hisfs*14)" "5" "" "0000377748" "00000927" "99" "652" "0" "655" "0" "c.652_655del" "r.(?)" "p.(Ser218Lysfs*13)" "5" "" "0000377749" "00000927" "99" "652" "0" "655" "0" "c.652_655del" "r.(?)" "p.(Ser218Lysfs*13)" "5" "" "0000377750" "00000927" "99" "652" "0" "655" "0" "c.652_655del" "r.(?)" 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"p.(Val529Hisfs*7)" "13" "" "0000377863" "00000927" "99" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000377864" "00000927" "99" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000377865" "00000927" "99" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000377866" "00000927" "99" "1603" "0" "1603" "0" "c.1603G>T" "r.(?)" "p.(Glu535*)" "13" "" "0000377867" "00000927" "99" "1609" "2" "1609" "2" "c.1609+2dup" "r.spl" "p.?" "13i" "" "0000377868" "00000927" "99" "1609" "3" "1609" "3" "c.1609+3A>C" "r.spl?" "p.?" "13i" "" "0000377869" "00000927" "99" "1624" "0" "1624" "0" "c.1624del" "r.(?)" "p.(Glu542Lysfs*13)" "14" "" "0000377870" "00000927" "99" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548*)" "14" "" "0000377871" "00000927" "99" "1650" "0" "1651" "0" "c.1650_1651del" "r.(?)" "p.(Tyr551Leufs*15)" "14" "" "0000377872" "00000927" "99" "1663" "0" "1663" "0" "c.1663A>T" "r.(?)" "p.(Arg555*)" "14" "" "0000377873" "00000927" "99" "1663" "0" "1663" "0" "c.1663A>T" "r.1663a>u" "p.Arg555*" "14" "" "0000377874" "00000927" "99" "1663" "0" "1663" "0" "c.1663A>T" "r.(?)" "p.(Arg555*)" "14" "" "0000377875" "00000927" "99" "1673" "0" "1673" "0" "c.1673C>G" "r.(1673c>g)" "p.(Ser558*)" "14" "" "0000377876" "00000927" "99" "1673" "0" "1673" "0" "c.1673C>G" "r.(?)" "p.(Ser558*)" "14" "" "0000377877" "00000927" "99" "1725" "0" "1725" "0" "c.1725C>A" "r.(?)" "p.(Cys575*)" "14" "" "0000377878" "00000927" "99" "1759" "0" "1759" "0" "c.1759del" "r.(?)" "p.(Ala587Glnfs*62)" "14" "" "0000377879" "00000927" "79" "1771" "-1" "1771" "-1" "c.1771-1G>A" "r.spl" "p.?" "14i" "" "0000377880" "00000927" "99" "1771" "-1" "1771" "-1" "c.1771-1G>A" "r.spl" "p.?" "14i" "" "0000377881" "00000927" "75" "1771" "-1" "1771" "-1" "c.1771-1G>A" "r.spl" "p.?" "14i" "" "0000377882" "00000927" "99" "-30" "0" "50" "0" "c.-30_(49+1_50-1){0}" "r.0" "p.0" "_1_1i" "" "0000377883" "00000927" "99" "-30" "0" "50" "0" "c.-30_(49+1_50-1){0}" "r.0" "p.0" "_1_1i" "" "0000377884" "00000927" "99" "-30" "0" "50" "0" "c.-30_(49+1_50-1){0}" "r.0" "p.0" "_1_1i" "" "0000377885" "00000927" "55" "-30" "0" "50" "0" "c.-30_(49+1_50-1){0}" "r.0" "p.0" "_1_1i" "" "0000377886" "00000927" "99" "-30" "0" "50" "0" "c.-30_(49+1_50-1){0}" "r.0" "p.0" "_1_1i" "" "0000377887" "00000927" "99" "-30" "0" "50" "0" "c.-30_(49+1_50-1){0}" "r.0" "p.0" "_1_1i" "" "0000377888" "00000927" "99" "-30" "0" "117" "0" "c.-30_(116+1_117-1){0}" "r.0" "p.0" "_1_2i" "" "0000377889" "00000927" "99" "-30" "0" "1167" "0" "c.-30_(1166+1_1167-1){0}" "r.0" "p.0" "_1_8i" "" "0000377890" "00000927" "99" "-30" "0" "1167" "0" "c.-30_(1166+1_1167-1){0}" "r.0" "p.0" "_1_8i" "" "0000377891" "00000927" "99" "-30" "0" "1610" "0" "c.-30_(1609+1_1610-1){0}" "r.0" "p.0" "_1_13i" "" "0000377892" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377893" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377894" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377895" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377896" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377897" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377898" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377899" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377900" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377901" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377902" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377903" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377904" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377905" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377906" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377907" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377908" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377909" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377910" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377911" "00000927" "99" "-30" "0" "5412" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000377912" "00000927" "99" "117" "-1" "314" "1" "c.(116+1_117-1)_(314+1_315-1)del" "r.?" "p.?" "2i_4i" "" "0000377913" "00000927" "99" "117" "-1" "1166" "1" "c.(116+1_117-1)_(1166+1_1167-1)del" "r.?" "p.?" "2i_8i" "" "0000377914" "00000927" "99" "117" "-1" "1166" "1" "c.(116+1_117-1)_(1166+1_1167-1)del" "r.?" "p.?" "2i_8i" "" "0000377915" "00000927" "99" "117" "-1" "1166" "1" "c.(116+1_117-1)_(1166+1_1167-1)del" "r.?" "p.?" "2i_8i" "" "0000377916" "00000927" "99" "117" "-1" "1244" "1" "c.(116+1_117-1)_(1244+1_1245-1)del" "r.?" "p.?" "2i_9i" "" "0000377917" "00000927" "99" "117" "-1" "1510" "1" "c.(116+1_117-1)_(1510+1_1511-1)del" "r.?" "p.?" "2i_12i" "" "0000377918" "00000927" "99" "117" "0" "5412" "0" "c.(116+1_117-1)_*3450{0}" "r.?" "p.?" "2i_15_" "" "0000377919" "00000927" "99" "315" "-1" "1166" "1" "c.(314+1_315-1)_(1166+1_1167-1)del" "r.?" "p.?" "4i_8i" "" "0000377920" "00000927" "99" "315" "-1" "1166" "1" "c.(314+1_315-1)_(1166+1_1167-1)del" "r.?" "p.?" "4i_8i" "" "0000377921" "00000927" "99" "1167" "-1" "1244" "1" "c.(1166+1_1167-1)_(1244+1_1245-1)del" "r.(?)" "p.(?)" "8i_9i" "" "0000377922" "00000927" "99" "1167" "-1" "1244" "1" "c.(1166+1_1167-1)_(1244+1_1245-1)del" "r.(?)" "p.(?)" "8i_9i" "" "0000377923" "00000927" "99" "1167" "-1" "1609" "1" "c.(1166+1_1167-1)_(1609+1_1610-1)del" "r.?" "p.?" "8i_13i" "" "0000377924" "00000927" "99" "1167" "0" "5412" "0" "c.(1166+1_1167-1)_*3450{0}" "r.?" "p.?" "8i_15_" "" "0000377925" "00000927" "99" "1167" "0" "5412" "0" "c.(1166+1_1167-1)_*3450{0}" "r.?" "p.?" "8i_15_" "" "0000377926" "00000927" "99" "1414" "-1" "1510" "1" "c.(1413+1_1414-1)_(1510+1_1511-1)del" "r.(?)" "p.(?)" "11i+12i" "" "0000377927" "00000927" "99" "1414" "0" "5412" "0" "c.(1413+1_1414-1)_*3450{0}" "r.?" "p.?" "11i_15_" "" "0000377928" "00000927" "99" "117" "-1" "1166" "1" "c.(116+1_117-1)_(1166+1_1167-1)del" "r.?" "p.?" "2i_8i" "" "0000377929" "00000927" "99" "-2008" "0" "49" "9142" "c.-30_49+9142{0}" "r.0?" "p.0?" "_1_1i" "" "0000377930" "00000927" "99" "190" "0" "5412" "0" "c.(189+1_190-1)_*3450{0}" "r.?" "p.?" "3i_15_" "" "0000377931" "00000927" "99" "116" "1" "116" "1" "c.116+1G>T" "r.50_116del" "p.Gly17Glufs*21" "2i" "" "0000377932" "00000927" "99" "50" "-1" "189" "1" "c.(49+1_50-1)_(189+1_190-1)del" "r.50_189del" "p.Gly17Aspfs*10" "1i_3" "" "0000377933" "00000927" "99" "550" "0" "551" "0" "c.550_551dup" "r.(?)" "p.(Asp184Glufs*14)" "5" "" "0000377934" "00000927" "99" "703" "-1" "940" "1" "c.(702+1_703-1)_(940+1_941-1)del" "r.?" "p.?" "5i_7i" "" "0000377935" "00000927" "99" "703" "-1" "940" "1" "c.(702+1_703-1)_(940+1_941-1)del" "r.?" "p.(Leu235Argfs*4)" "5i_7i" "" "0000377936" "00000927" "99" "820" "-2" "820" "-2" "c.820-2A>G" "r.820_940del" "p.Val274Serfs*11" "6i" "" "0000377937" "00000927" "99" "820" "-2" "820" "-2" "c.820-2A>G" "r.820_940del" "p.(Val274Serfs*11)" "6i" "" "0000377938" "00000927" "99" "1310" "0" "1313" "0" "c.1310_1313del" "r.1310_1313del" "p.Ser437Thrfs*20" "10" "" "0000377939" "00000927" "99" "1520" "0" "1520" "0" "c.1520A>G" "r.1520a>g" "p.His507Arg" "13" "" "0000377940" "00000927" "77" "1520" "0" "1520" "0" "c.1520A>G" "r.1520a>g" "p.(His507Arg)" "13" "" "0000377941" "00000927" "99" "1403" "0" "1403" "0" "c.1403C>G" "r.(?)" "p.(Ser468*)" "11" "" "0000377942" "00000927" "99" "1403" "0" "1403" "0" "c.1403C>G" "r.(?)" "p.(Ser468*)" "11" "" "0000377943" "00000927" "99" "1350" "-2" "1350" "-2" "c.1350-2A>G" "r.spl" "p.?" "10i" "" "0000377944" "00000927" "99" "1646" "0" "1646" "0" "c.1646del" "r.(?)" "p.(Ala549Valfs*6)" "14" "" "0000377945" "00000927" "99" "1649" "0" "1649" "0" "c.1649T>C" "r.(?)" "p.(Leu550Pro)" "14" "" "0000377946" "00000927" "99" "1649" "0" "1649" "0" "c.1649T>C" "r.(?)" "p.(Leu550Pro)" "14" "" "0000377947" "00000927" "99" "1327" "0" "1328" "0" "c.1327_1328del" "r.1327_1328del" "p.Met443Valfs*18" "10" "" "0000377948" "00000927" "99" "1327" "0" "1328" "0" "c.1327_1328del" "r.(?)" "p.(Met443Valfs*18)" "10" "" "0000377949" "00000927" "99" "817" "0" "817" "0" "c.817C>T" "r.817c>u" "p.Gln273*" "6" "" "0000377950" "00000927" "99" "700" "0" "700" "0" "c.700A>T" "r.700a>u" "p.Lys234*" "5" "" "0000377951" "00000927" "99" "700" "0" "700" "0" "c.700A>T" "r.700a>u" "p.Lys234*" "5" "" "0000377952" "00000927" "99" "700" "0" "700" "0" "c.700A>T" "r.700a>u" "p.Lys234*" "5" "" "0000377953" "00000927" "99" "700" "0" "700" "0" "c.700A>T" "r.(?)" "p.(Lys234*)" "5" "" "0000377954" "00000927" "79" "3" "0" "3" "0" "c.3G>A" "r.3g>a" "p.0?" "1" "" "0000377955" "00000927" "99" "1245" "0" "5412" "0" "c.(1244+1_1245-1)_*3450{0}" "r.1245_5412+?delins1274+?" "p.(Cys416*)" "9i_15_" "" "0000377956" "00000927" "99" "1488" "0" "1488" "0" "c.1488delinsATAAC" "r.(1488delginsauaac)" "p.(Met497*)" "12" "" "0000377957" "00000927" "99" "1194" "0" "1194" "0" "c.1194T>G" "r.(1194u>g)" "p.(Tyr398*)" "9" "" "0000377958" "00000927" "99" "1130" "0" "1130" "0" "c.1130T>A" "r.(1130u>a)" "p.(Leu377*)" "8" "" "0000377959" "00000927" "99" "613" "0" "614" "0" "c.613_614del" "r.(613_614delga)" "p.(Asp205Tyrfs*17)" "5" "" "0000377960" "00000927" "75" "117" "-1" "1244" "1" "c.(116+1_117-1)_(1244+1_1245-1)dup" "r.?" "p.?" "2i_9i" "" "0000377970" "00000927" "99" "969" "0" "969" "0" "c.969T>A" "r.(?)" "p.(Tyr323*)" "8" "" "0000378072" "00000927" "99" "-30" "0" "1511" "0" "c.-30_(1510+1_1511-1){0}" "r.0" "p.0" "_1_12i" "" "0000378073" "00000927" "99" "1511" "-1" "1511" "-1" "c.1511-1G>A" "r.spl" "p.?" "12i" "" "0000378074" "00000927" "99" "653" "0" "653" "0" "c.653C>G" "r.653c>g" "p.(Ser218*)" "5" "" "0000378075" "00000927" "99" "1350" "-1" "5412" "0" "c.(1349+1_1350-1)_(*3450_?)dup" "r.?" "p.?" "10i_15_" "" "0000378076" "00000927" "99" "224" "0" "224" "0" "c.224G>A" "r.224g>a" "p.(Trp75*)" "4" "" "0000378077" "00000927" "99" "855" "0" "855" "0" "c.855dup" "r.855dup" "p.(Gln286Thrfs*21)" "7" "" "0000378078" "00000927" "99" "232" "0" "232" "0" "c.232C>T" "r.232c>u" "p.(Gln78*)" "4" "" "0000378079" "00000927" "99" "1273" "0" "1273" "0" "c.1273C>T" "r.1273c>u" "p.(Gln425*)" "10" "" "0000378080" "00000927" "99" "1273" "0" "1273" "0" "c.1273C>T" "r.1273c>u" "p.(Gln425*)" "10" "" "0000378081" "00000927" "99" "1624" "0" "1624" "0" "c.1624G>T" "r.1624g>T" "p.(Glu542*)" "14" "" "0000378082" "00000927" "99" "681" "0" "681" "0" "c.681del" "r.681del" "p.(Phe227Leufs*5)" "5" "" "0000378083" "00000927" "99" "1167" "-1" "1510" "1" "c.(1166+1_1167-1)_(1510+1_1511-1)del" "r.?" "p.?" "8i_12i" "" "0000378084" "00000927" "99" "315" "-1" "702" "1" "c.(314+1_315-1)_(702+1_703-1)del" "r.?" "p.?" "4i_5i" "" "0000378085" "00000927" "99" "1593" "0" "1593" "0" "c.1593T>G" "r.1593u>g" "p.(Tyr531*)" "13" "" "0000378086" "00000927" "99" "737" "0" "741" "0" "c.737_741del" "r.737_741del" "p.(Leu246Glnfs*3)" "6" "" "0000378087" "00000927" "99" "1670" "0" "1670" "0" "c.1670C>A" "r.1670c>a" "p.(Ser557*)" "14" "" "0000378088" "00000927" "99" "1213" "0" "1213" "0" "c.1213C>T" "r.1213c>u" "p.(Gln405*)" "9" "" "0000378089" "00000927" "99" "1245" "-1" "1510" "1" "c.(1244+1_1245-1)_(1510+1_1511-1)del" "r.?" "p.?" "9i_12i" "" "0000378090" "00000927" "99" "1610" "-1" "1770" "1" "c.(1609+1_1610-1)_(1770+1_1771-1)del" "r.(?)" "p.(?)" "13i_14i" "" "0000378091" "00000927" "99" "1245" "-1" "1245" "-1" "c.1245-1G>T" "r.spl" "p.?" "9i" "" "0000378092" "00000927" "99" "117" "-1" "314" "1" "c.(116+1_117-1)_314+?del;c.703-?_1510+?del" "r.?" "p.?" "" "" "0000378093" "00000927" "99" "1243" "0" "1243" "0" "c.1243A>T" "r.1243a>u" "p.(Lys415*)" "9" "" "0000378094" "00000927" "99" "1059" "0" "1059" "0" "c.1059del" "r.1059del" "p.(Asp353Glufs*56)" "8" "" "0000378095" "00000927" "99" "50" "-1" "314" "1" "c.(49+1_50-1)_(314+1_315-1)del" "r.?" "p.?" "1i_4i" "" "0000378096" "00000927" "99" "50" "-1" "314" "1" "c.(49+1_50-1)_(314+1_315-1)del" "r.?" "p.?" "1i_4i" "" "0000378097" "00000927" "99" "1771" "0" "5412" "0" "c.(1770+1_1771-1)_*3450{0}" "r.(?)" "p.(?)" "14i_15_" "" "0000378098" "00000927" "99" "194" "0" "194" "0" "c.194del" "r.194del" "p.(Asn65Thrfs*5)" "4" "" "0000378099" "00000927" "99" "1095" "0" "1095" "0" "c.1095del" "r.1095del" "p.(Arg367Glyfs*42)" "8" "" "0000378100" "00000927" "99" "470" "0" "473" "0" "c.470_473del" "r.470_473del" "p.(Gln157Leufs*10)" "5" "" "0000378101" "00000927" "99" "117" "-1" "940" "1" "c.(116+1_117-1)_(940+1_941-1)del" "r.?" "p.?" "4i_7i" "" "0000378102" "00000927" "99" "846" "0" "851" "0" "c.846_851delinsAATAT" "r.846_851delinsaauau" "p.(Phe282Leufs*9)" "7" "" "0000378103" "00000927" "55" "1220" "0" "1220" "0" "c.1220T>A" "r.1220u>a" "p.(Leu407His)" "9" "" "0000378104" "00000927" "99" "1006" "0" "1007" "0" "c.1006_1007del" "r.1006_1007del" "p.(Ile336Cysfs*81)" "8" "" "0000378105" "00000927" "99" "845" "0" "846" "0" "c.845_846del" "r.845_846del" "p.(Phe282*)" "7" "" "0000378106" "00000927" "99" "1089" "0" "1089" "0" "c.1089del" "r.1089del" "p.(Cys364Valfs*45)" "8" "" "0000378107" "00000927" "99" "1414" "-1" "1414" "-1" "c.1414-1G>C" "r.spl" "p.?" "11i" "" "0000378108" "00000927" "95" "-98" "0" "-98" "0" "-" "r.(?)" "p.(?)" "_1" "" "0000378109" "00000927" "99" "-98" "0" "-98" "0" "-" "r.(?)" "p.(?)" "_1" "" "0000378110" "00000927" "99" "1245" "-521" "1245" "-521" "c.1245-521A>G" "r.1244_1245ins1245-520_1245-407" "p.Lys415_Cys416ins22Ter" "9i" "" "0000378111" "00000927" "99" "1245" "-521" "1245" "-521" "c.1245-521A>G" "r.1244_1245ins1245-520_1245-407" "p.Lys415_Cys416ins22Ter" "9i" "" "0000378112" "00000927" "99" "25" "0" "28" "0" "c.25_28delinsAGTAATAGTAA" "r.25_28deluuuginsaguaauaguaa" "p.Phe9Serfs*14" "1" "" "0000378113" "00000927" "99" "25" "0" "28" "0" "c.25_28delinsAGTAATAGTAA" "r.25_28deluuuginsaguaauaguaa" "p.Phe9Serfs*14" "1" "" "0000378115" "00000927" "99" "889" "0" "889" "0" "c.889A>T" "r.889a>u" "p.Lys297*" "7" "" "0000378116" "00000927" "99" "189" "1" "189" "1" "c.189+1G>T" "r.spl" "p.?" "3i" "" "0000378117" "00000927" "99" "-30" "0" "1414" "0" "c.-30_(1413+1_1414-1){0}" "r.0" "p.0" "_1_11i" "" "0000378118" "00000927" "99" "1327" "0" "1328" "0" "c.1327_1328del" "r.(?)" "p.(Met443Valfs*18)" "10" "" "0000378119" "00000927" "99" "685" "0" "685" "0" "c.685dup" "r.685dup" "p.(Ile229Asnfs*2)" "5" "" "0000378120" "00000927" "99" "819" "1" "819" "1" "c.819+1G>C" "r.spl" "p.?" "6i" "" "0000378121" "00000927" "99" "1287" "0" "1288" "0" "c.1287_1288del" "r.1287_1288del" "p.(Glu430Alafs*11)" "10" "" "0000378122" "00000927" "99" "940" "1" "940" "1" "c.940+1G>A" "r.spl" "p.?" "7i" "" "0000378123" "00000927" "99" "282" "0" "282" "0" "c.282del" "r.282del" "p.(Ile95Phefs*31)" "4" "" "0000378124" "00000927" "99" "675" "0" "675" "0" "c.675dup" "r.675dupg" "p.(Arg226Glufs*3)" "5" "" "0000378125" "00000927" "99" "519" "0" "520" "0" "c.519_520del" "r.519_520del" "p.(Glu173Aspfs*10)" "5" "" "0000378126" "00000927" "99" "1167" "-1" "1349" "1" "c.(1166+1_1167-1)_(1349+1_1350-1)del" "r.(?)" "p.(Met390_Arg450del)" "8i_10i" "" "0000378127" "00000927" "99" "817" "0" "817" "0" "c.817dup" "r.817dup" "p.(Gln273Profs*11)" "6" "" "0000378128" "00000927" "99" "1437" "0" "1437" "0" "c.1437dup" "r.1437dup" "p.(Glu480Argfs*12)" "12" "" "0000378129" "00000927" "99" "580" "0" "581" "0" "c.580_581del" "r.580_581del" "p.(Glu194Argfs*4)" "5" "" "0000378130" "00000927" "99" "1144" "0" "1144" "0" "c.1144G>T" "r.1144g>u" "p.(Glu382*)" "8" "" "0000378131" "00000927" "99" "1166" "2" "1166" "2" "c.1166+2T>G" "r.spl" "p.?" "8i" "" "0000378132" "00000927" "99" "745" "0" "745" "0" "c.745del" "r.745del" "p.(Ser249Leufs*42)" "6" "" "0000378133" "00000927" "99" "910" "0" "910" "0" "c.910G>T" "r.910g>u" "p.(Glu304*)" "7" "" "0000378134" "00000927" "99" "1414" "-1" "1414" "0" "c.1414-1_1414delinsAT" "r.spl" "p.?" "11i_12" "" "0000378135" "00000927" "99" "1349" "0" "1349" "0" "c.1349G>A" "r.1349g>a" "p.(Arg450Lys)" "10" "" "0000378136" "00000927" "99" "1531" "0" "1531" "0" "c.1531dup" "r.1531dup" "p.(Thr511Asnfs*4)" "13" "" "0000378137" "00000927" "99" "1584" "0" "1587" "0" "c.1584_1587del" "r.1584_1587del" "p.(Val529Hisfs*7)" "13" "" "0000378138" "00000927" "99" "16" "0" "17" "0" "c.16_17dup" "r.16_17dup" "p.(Ser7Leufs*6)" "1" "" "0000378139" "00000927" "99" "1770" "520" "1770" "520" "c.1770+520C>G" "r.(?)" "p.A591_*654delinsQMNQ*" "14i" "" "0000378140" "00000927" "99" "1245" "-1" "1413" "1" "c.(1244+1_1245-1)_(1413+1_1414-1)del" "r.(?)" "p.(Cys416Phefs*4)" "9i_11i" "" "0000378141" "00000927" "99" "20" "0" "20" "0" "c.20C>A" "r.20c>a" "p.(Ser7*)" "1" "" "0000378142" "00000927" "99" "49" "2" "49" "2" "c.49+2dup" "r.spl" "p.?" "1i" "" "0000378143" "00000927" "99" "49" "3" "49" "10" "c.49+3_49+10delinsGCTT" "r.spl?" "p.?" "1i" "" "0000378144" "00000927" "77" "104" "0" "104" "0" "c.104T>C" "r.104u>c" "p.(Leu35Pro)" "2" "" "0000378145" "00000927" "77" "104" "0" "104" "0" "c.104T>C" "r.104u>c" "p.(Leu35Pro)" "2" "" "0000378146" "00000927" "99" "126" "0" "126" "0" "c.126C>G" "r.126c>g" "p.(Tyr42*)" "3" "" "0000378147" "00000927" "99" "173" "0" "173" "0" "c.173G>A" "r.173g>a" "p.(Trp58*)" "3" "" "0000378148" "00000927" "99" "189" "1" "189" "1" "c.189+1G>C" "r.spl" "p.?" "3i" "" "0000378149" "00000927" "99" "492" "0" "493" "0" "c.492_493del" "r.492_493del" "p.(Asn165Cysfs*8)" "5" "" "0000378150" "00000927" "99" "535" "0" "538" "0" "c.535_538del" "r.535_538del" "p.(Glu179Thrfs*17)" "5" "" "0000378151" "00000927" "99" "703" "-1" "726" "0" "c.703-1_726delinsTTAG" "r.spl" "p.?" "5i_6" "" "0000378152" "00000927" "99" "759" "0" "759" "0" "c.759del" "r.759del" "p.(Tyr254Metfs*37)" "6" "" "0000378153" "00000927" "99" "820" "-1" "820" "-1" "c.820-1G>T" "r.spl" "p.?" "6i" "" "0000378154" "00000927" "99" "831" "0" "831" "0" "c.831del" "r.831del" "p.(Arg278Glufs*13)" "7" "" "0000378155" "00000927" "99" "872" "0" "880" "0" "c.872_880del" "r.872_880del" "p.(Glu291_Met294delinsVal)" "7" "" "0000378156" "00000927" "99" "930" "0" "931" "0" "c.930_931insA" "r.930_931insa" "p.(Glu311Argfs*3)" "7" "" "0000378157" "00000927" "99" "940" "2" "940" "2" "c.940+2T>C" "r.spl" "p.?" "7i" "" "0000378158" "00000927" "99" "940" "3" "940" "3" "c.940+3del" "r.spl?" "p.?" "7i" "" "0000378159" "00000927" "99" "941" "-1" "941" "-1" "c.941-1G>A" "r.spl" "p.?" "7i" "" "0000378160" "00000927" "99" "1079" "0" "1079" "0" "c.1079del" "r.1079del" "p.(Asn360Thrfs*49)" "8" "" "0000378161" "00000927" "79" "1161" "0" "1164" "0" "c.1161_1164delinsTTT" "r.1161_1164delinsuuu" "p.(Cys388Leufs*21)" "8" "" "0000378162" "00000927" "99" "1179" "0" "1180" "0" "c.1179_1180del" "r.1179_1180del" "p.(Phe394Trpfs*23)" "9" "" "0000378163" "00000927" "99" "1245" "-1" "1245" "-1" "c.1245-1G>A" "r.spl" "p.?" "9i" "" "0000378164" "00000927" "99" "1264" "0" "1264" "0" "c.1264C>T" "r.1264c>u" "p.(Gln422*)" "10" "" "0000378165" "00000927" "99" "1300" "0" "1303" "0" "c.1300_1303del" "r.1300_1303del" "p.(Val434Argfs*23)" "10" "" "0000378166" "00000927" "99" "1313" "0" "1313" "0" "c.1313dup" "r.1313dupa" "p.(Tyr438*)" "10" "" "0000378167" "00000927" "99" "1347" "0" "1347" "0" "c.1347C>G" "r.1347c>g" "p.(Tyr449*)" "10" "" "0000378168" "00000927" "99" "1349" "1" "1349" "1" "c.1349+1del" "r.spl" "p.?" "10i" "" "0000378169" "00000927" "99" "1349" "1" "1349" "1" "c.1349+1del" "r.spl" "p.?" "10i" "" "0000378170" "00000927" "99" "1408" "0" "1408" "0" "c.1408C>T" "r.1408c>u" "p.(Gln470*)" "11" "" "0000378171" "00000927" "99" "1618" "0" "1618" "0" "c.1618C>T" "r.1618c>u" "p.(Gln540*)" "14" "" "0000378172" "00000927" "99" "1762" "0" "1765" "0" "c.1762_1765del" "r.1762_1765del" "p.(Val588Asnfs*60)" "14" "" "0000378173" "00000927" "99" "227" "0" "232" "0" "c.227_232delinsTGTCATTTCA" "r.227_232delinsugucauuuca" "p.(Gln76Leufs*7)" "4" "" "0000378174" "00000927" "99" "710" "0" "710" "0" "c.710dup" "r.710dup" "p.(Tyr237*)" "6" "" "0000378175" "00000927" "99" "1264" "0" "1264" "0" "c.1264C>T" "r.1264c>u" "p.(Gln422*)" "10" "" "0000378176" "00000927" "99" "179" "0" "179" "0" "c.179del" "r.179del" "p.(Lys60Argfs*10)" "3" "" "0000378177" "00000927" "99" "886" "0" "886" "0" "c.886del" "r.886del" "p.(Met296*)" "7" "" "0000378178" "00000927" "99" "1335" "0" "1335" "0" "c.1335dup" "r.1335dup" "p.(Arg446Thrfs*16)" "10" "" "0000378179" "00000927" "99" "1099" "0" "1100" "0" "c.1099_1100insTACC" "r.1099_1100insuacc" "p.(Arg367Leufs*52)" "8" "" "0000378180" "00000927" "99" "655" "0" "655" "0" "c.655C>T" "r.655c>u" "p.(Gln219*)" "5" "" "0000378181" "00000927" "99" "698" "0" "698" "0" "c.698C>A" "r.698c>a" "p.(Ser233*)" "5" "" "0000378182" "00000927" "99" "-30" "0" "116" "1" "c.-30_(116+1_117-1)dup;c.1167-?_1510+?dup" "r.0" "p.0" "_1_2i" "" "0000378183" "00000927" "99" "37" "0" "37" "0" "c.37del" "r.37del" "p.(Val13*)" "1" "" "0000378184" "00000927" "99" "49" "3" "49" "3" "c.49+3A>G" "r.spl?" "p.?" "1i" "" "0000378185" "00000927" "99" "116" "1" "116" "1" "c.116+1G>C" "r.spl" "p.?" "2i" "" "0000378186" "00000927" "99" "167" "0" "167" "0" "c.167dup" "r.167dup" "p.(Leu56Phefs*12)" "3" "" "0000378187" "00000927" "99" "225" "0" "225" "0" "c.225G>A" "r.225g>a" "p.(Trp75*)" "4" "" "0000378188" "00000927" "99" "703" "-1" "1166" "1" "c.(702+1_703-1)_(1166+1_1167-1)del" "r.(?)" "p.(?)" "5i_8i" "" "0000378189" "00000927" "99" "819" "0" "819" "0" "c.819G>T" "r.819g>u" "p.(Gln273His)" "6" "" "0000378190" "00000927" "99" "846" "0" "851" "0" "c.846_851delinsAATAT" "r.846_851delinsaauau" "p.(Phe282Leufs*9)" "7" "" "0000378191" "00000927" "99" "894" "0" "894" "0" "c.894del" "r.894delu" "p.(Thr300Hisfs*25)" "7" "" "0000378192" "00000927" "99" "1167" "-1" "1413" "1" "c.(1166+1_1167-1)_(1413+1_1414-1)del" "r.(?)" "p.(?)" "8i_11i" "" "0000378193" "00000927" "99" "1184" "0" "1184" "0" "c.1184del" "r.1184del" "p.(Gly395Valfs*14)" "9" "" "0000378194" "00000927" "99" "1234" "0" "1234" "0" "c.1234G>T" "r.1234g>u" "p.(Glu412*)" "9" "" "0000378195" "00000927" "99" "1370" "0" "1370" "0" "c.1370T>C" "r.1370u>c" "p.(Leu457Pro)" "11" "" "0000378196" "00000927" "99" "1511" "-1" "1609" "1" "c.(1510+1_1511-1)_(1609+1_1610-1)del" "r.(?)" "p.(?)" "12i_13i" "" "0000378197" "00000927" "99" "1697" "0" "1698" "0" "c.1697_1698del" "r.1697_1698del" "p.(Asn566Argfs*19)" "14" "" "0000378198" "00000927" "99" "1264" "0" "1264" "0" "c.1264C>T" "r.1264c>u" "p.(Gln422*)" "10" "" "0000378199" "00000927" "99" "819" "1" "819" "1" "c.819+1G>A" "r.spl" "p.?" "6i" "" "0000378200" "00000927" "99" "1780" "0" "1780" "0" "c.1780del" "r.1780delc" "p.(Leu594Phefs*55)" "15" "" "0000378201" "00000927" "99" "819" "1" "819" "1" "c.819+1G>A" "r.spl" "p.?" "6i" "" "0000378202" "00000927" "99" "492" "0" "493" "0" "c.492_493del" "r.492_493del" "p.(Asn165Cysfs*8)" "5" "" "0000378203" "00000927" "99" "872" "0" "880" "0" "c.872_880del" "r.872_880del" "p.(Glu291_Met294delinsVal)" "7" "" "0000378204" "00000927" "99" "535" "0" "538" "0" "c.535_538del" "r.535_538del" "p.(Glu179Thrfs*17)" "5" "" "0000378205" "00000927" "99" "819" "1" "819" "1" "c.819+1G>T" "r.spl" "p.?" "6i" "" "0000378206" "00000927" "99" "898" "0" "898" "0" "c.898dup" "r.898dup" "p.(Thr300Asnfs*7)" "7" "" "0000378207" "00000927" "99" "971" "0" "971" "0" "c.971T>G" "r.971u>g" "p.(Leu324*)" "8" "" "0000378208" "00000927" "99" "1167" "-1" "1167" "-1" "c.1167-1G>T" "r.spl" "p.?" "8i" "" "0000378209" "00000927" "99" "1167" "-2" "1167" "-2" "c.1167-2A>G" "r.spl" "p.?" "8i" "" "0000378210" "00000927" "99" "558" "0" "559" "0" "c.558_559del" "r.558_559del" "p.(Val188Alafs*10)" "5" "" "0000378211" "00000927" "99" "703" "-1" "703" "-1" "c.703-1G>A" "r.spl" "p.?" "5i" "" "0000378212" "00000927" "99" "966" "0" "966" "0" "c.966del" "r.966del" "p.(Glu322Aspfs*3)" "8" "" "0000378213" "00000927" "99" "964" "0" "964" "0" "c.964G>T" "r.964g>u" "p.(Glu322*)" "8" "" "0000378214" "00000927" "99" "1166" "2" "1166" "2" "c.1166+2T>G" "r.spl" "p.?" "8i" "" "0000378215" "00000927" "99" "1718" "0" "1719" "0" "c.1718_1719del" "r.1718_1719del" "p.(Tyr573Cysfs*12)" "14" "" "0000378216" "00000927" "99" "1475" "0" "1476" "0" "c.1475_1476insCA" "r.1475_1476insca" "p.(Leu492Phefs*7)" "12" "" "0000378217" "00000927" "99" "819" "2" "819" "2" "c.819+2T>A" "r.spl" "p.?" "6i" "" "0000378218" "00000927" "99" "862" "0" "862" "0" "c.862dup" "r.862dupa" "p.(Thr288Asnfs*19)" "7" "" "0000378219" "00000927" "99" "116" "0" "116" "0" "c.116C>A" "r.116c>a" "p.(Ser39*)" "2" "" "0000378220" "00000927" "99" "141" "0" "141" "0" "c.141G>A" "r.141g>a" "p.(Trp47*)" "3" "" "0000378221" "00000927" "99" "1703" "0" "1703" "0" "c.1703T>A" "r.1703u>a" "p.(Leu568*)" "14" "" "0000378222" "00000927" "99" "49" "0" "49" "0" "c.49G>T" "r.(?)" "p.(?)" "1" "" "0000378223" "00000927" "99" "50" "-1" "116" "1" "c.(49+1_50-1)_(116+1_117-1)del" "r.(?)" "p.(?)" "1i_2i" "" "0000378224" "00000927" "99" "492" "0" "493" "0" "c.492_493del" "r.492_493del" "p.(Asn165Cysfs*8)" "5" "" "0000378225" "00000927" "99" "1264" "0" "1264" "0" "c.1264C>T" "r.1264c>u" "p.(Gln422*)" "10" "" "0000378226" "00000927" "99" "82" "0" "82" "0" "c.82del" "r.82del" "p.(Ser28Glnfs*32)" "2" "" "0000378227" "00000927" "99" "124" "0" "133" "0" "c.124_133dup" "r.124_133dup" "p.(Gly45Valfs*10)" "3" "" "0000378228" "00000927" "99" "616" "0" "616" "0" "c.616dup" "r.616dup" "p.(Thr206Asnfs*17)" "5" "" "0000378229" "00000927" "99" "941" "-1" "941" "-1" "c.941-1G>T" "r.spl" "p.?" "7i" "" "0000378230" "00000927" "99" "1036" "0" "1036" "0" "c.1036G>T" "r.1036g>u" "p.(Glu346*)" "8" "" "0000378231" "00000927" "99" "1116" "0" "1117" "0" "c.1116_1117del" "r.1116_1117del" "p.(Leu374Valfs*43)" "8" "" "0000378232" "00000927" "99" "645" "0" "645" "0" "c.645del" "r.645del" "p.(Thr216Leufs*16)" "5" "" "0000378233" "00000927" "99" "1476" "0" "1477" "0" "c.1476_1477dup" "r.1476_1477dup" "p.(Cys493Tyrfs*6)" "12" "" "0000378234" "00000927" "99" "1079" "0" "1079" "0" "c.1079del" "r.1079del" "p.(Asn360Thrfs*49)" "8" "" "0000378235" "00000927" "99" "1347" "0" "1347" "0" "c.1347C>G" "r.1347c>g" "p.(Tyr449*)" "10" "" "0000378236" "00000927" "99" "940" "3" "940" "3" "c.940+3del" "r.spl?" "p.?" "7i" "" "0000378237" "00000927" "99" "703" "-1" "726" "0" "c.703-1_726delinsTTAG" "r.spl" "p.?" "5i_6" "" "0000378238" "00000927" "99" "49" "3" "49" "3" "c.49+3del" "r.spl?" "p.?" "1i" "" "0000378239" "00000927" "99" "1300" "0" "1303" "0" "c.1300_1303del" "r.1300_1303del" "p.(Val434Argfs*23)" "10" "" "0000378240" "00000927" "99" "1079" "0" "1079" "0" "c.1079del" "r.1079del" "p.(Asn360Thrfs*49)" "8" "" "0000378241" "00000927" "99" "820" "-1" "820" "-1" "c.820-1G>C" "r.spl" "p.?" "6i" "" "0000378242" "00000927" "99" "184" "0" "189" "3" "c.184_189+3del" "r.spl" "p.?" "3" "" "0000499067" "00000927" "90" "1349" "0" "1349" "0" "c.1349G>A" "r.spl?" "p.(Arg450Lys)" "10" "" "0000499068" "00000927" "90" "1034" "0" "1034" "0" "c.1034C>G" "r.(?)" "p.(Ser345*)" "8" "" "0000499069" "00000927" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Gln380*)" "8" "" "0000499070" "00000927" "90" "1144" "0" "1144" "0" "c.1144G>T" "r.(?)" "p.(Glu382*)" "8" "" "0000499071" "00000927" "90" "1144" "0" "1144" "0" "c.1144G>T" "r.(?)" "p.(Glu382*)" "8" "" "0000499072" "00000927" "90" "116" "1" "116" "1" "c.116+1G>A" "r.spl" "p.(Gly17Glufs)" "2i" "" "0000499073" "00000927" "90" "116" "1" "116" "1" "c.116+1G>C" "r.spl" "p.(Gly17Glufs)" "2i" "" "0000499074" "00000927" "90" "116" "1" "116" "1" "c.116+1G>T" "r.116_117del" "p.?" "2i" "" "0000499075" "00000927" "90" "117" "-1" "117" "-1" "c.117-1G>A" "r.spl" "p.?" "2i" "" "0000499076" "00000927" "90" "1184" "0" "1184" "0" "c.1184del" "r.(?)" "p.(Gly395Valfs*14)" "9" "" "0000499077" "00000927" "90" "1184" "0" "1184" "0" "c.1184del" "r.(?)" "p.(Gly395Valfs*14)" "9" "" "0000499078" "00000927" "90" "1194" "0" "1194" "0" "c.1194T>G" "r.(?)" "p.(Tyr398*)" "9" "" "0000499079" "00000927" "90" "1194" "0" "1194" "0" "c.1194T>G" "r.(?)" "p.(Tyr398*)" "9" "" "0000499080" "00000927" "90" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Gln405*)" "9" "" "0000499081" "00000927" "90" "1234" "0" "1234" "0" "c.1234G>T" "r.(?)" "p.(Glu412*)" "9" "" "0000499082" "00000927" "90" "126" "0" "126" "0" "c.126C>A" "r.(?)" "p.(Tyr42*)" "3" "" "0000499083" "00000927" "90" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Gln448*)" "10" "" "0000499084" "00000927" "90" "1414" "-1" "1414" "0" "c.1414-1_1414delinsAT" "r.spl" "p.?" "11i" "" "0000499085" "00000927" "90" "1437" "0" "1437" "0" "c.1437dup" "r.(?)" "p.(Glu480Argfs*12)" "12" "" "0000499086" "00000927" "90" "1476" "0" "1483" "0" "c.1476_1483del" "r.(?)" "p.(Leu492Phefs*20)" "12" "" "0000499087" "00000927" "90" "1520" "0" "1520" "0" "c.1520A>G" "r.(?)" "p.(His507Arg)" "13" "" "0000499088" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000499089" "00000927" "90" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Trp548*)" "14" "" "0000499090" "00000927" "90" "1670" "0" "1670" "0" "c.1670C>A" "r.(?)" "p.(Ser557*)" "14" "" "0000499091" "00000927" "90" "167" "0" "167" "0" "c.167dup" "r.(?)" "p.(Leu56Phefs*12)" "3" "" "0000499092" "00000927" "50" "1697" "0" "1698" "0" "c.1697_1698del" "r.(?)" "p.(Asn566Argfs*19)" "14" "" "0000499093" "00000927" "90" "190" "-2" "190" "-2" "c.190-2A>G" "r.spl" "p.?" "3i" "" "0000499094" "00000927" "90" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Trp75*)" "4" "" "0000499095" "00000927" "90" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Trp75*)" "4" "" "0000499096" "00000927" "90" "25" "0" "28" "0" "c.25_28delinsAGTAATAGTAA" "r.(?)" "p.(Phe9Serfs*14)" "1" "" "0000499097" "00000927" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Gln106*)" "5" "" "0000499098" "00000927" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Gln106*)" "5" "" "0000499099" "00000927" "90" "368" "0" "702" "58" "c.368_702+58delins(221)" "r.?" "p.?" "5_6i" "" "0000499100" "00000927" "90" "37" "0" "37" "0" "c.37del" "r.(?)" "p.(Val13*)" "1" "" "0000499101" "00000927" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "1" "" "0000499102" "00000927" "90" "49" "3" "49" "3" "c.49+3A>G" "r.spl?" "p.?" "1i" "" "0000499103" "00000927" "90" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177Lysfs*6)" "5" "" "0000499104" "00000927" "90" "634" "0" "634" "0" "c.634A>T" "r.(?)" "p.(Lys212*)" "5" "" "0000499105" "00000927" "90" "653" "0" "653" "0" "c.653C>G" "r.(?)" "p.(Ser218*)" "5" "" "0000499106" "00000927" "90" "653" "0" "653" "0" "c.653C>G" "r.(?)" "p.(Ser218*)" "5" "" "0000499107" "00000927" "90" "700" "0" "700" "0" "c.700A>T" "r.(?)" "p.(Lys234*)" "5" "" "0000499108" "00000927" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "6" "" "0000499109" "00000927" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "6" "" "0000499110" "00000927" "90" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "6" "" "0000499111" "00000927" "90" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "6" "" "0000499112" "00000927" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267*)" "6" "" "0000499113" "00000927" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270*)" "6" "" "0000499114" "00000927" "90" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Gln273*)" "6" "" "0000499115" "00000927" "90" "819" "0" "819" "0" "c.819G>T" "r.(?)" "p.(Gln273His)" "6" "" "0000499116" "00000927" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Ser28Glnfs*32)" "2" "" "0000499117" "00000927" "90" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "7" "" "0000499118" "00000927" "90" "889" "0" "889" "0" "c.889A>T" "r.(?)" "p.(Lys297*)" "7" "" "0000499119" "00000927" "90" "894" "0" "894" "0" "c.894del" "r.(?)" "p.(Thr300Hisfs*25)" "7" "" "0000499120" "00000927" "90" "894" "0" "894" "0" "c.894del" "r.(?)" "p.(Thr300Hisfs*25)" "7" "" "0000499121" "00000927" "90" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "7" "" "0000499122" "00000927" "90" "969" "0" "969" "0" "c.969T>A" "r.(?)" "p.(Tyr323*)" "8" "" "0000499123" "00000927" "90" "971" "0" "971" "0" "c.971del" "r.(?)" "p.(Leu324*)" "8" "" "0000499124" "00000927" "90" "971" "0" "971" "0" "c.971del" "r.(?)" "p.(Leu324*)" "8" "" "0000499125" "00000927" "90" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Lys328Asnfs*2)" "8" "" "0000499126" "00000927" "90" "993" "0" "993" "0" "c.993del" "r.(?)" "p.(Asn332Thrfs*12)" "8" "" "0000499127" "00000927" "90" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "6" "" "0000499140" "00000927" "90" "1144" "0" "1144" "0" "c.1144G>T" "r.(?)" "p.(Glu382*)" "8" "" "0000499141" "00000927" "90" "49" "1" "49" "1" "c.49+1G>C" "r.spl" "p.?" "1i" "" "0000499142" "00000927" "90" "49" "1" "49" "1" "c.49+1G>C" "r.spl" "p.?" "1i" "" "0000499143" "00000927" "90" "49" "2" "49" "2" "c.49+2dup" "r.spl?" "p.?" "1i" "" "0000499144" "00000927" "90" "1350" "-2" "1350" "-2" "c.1350-2A>C" "r.spl" "p.?" "10i" "" "0000499145" "00000927" "90" "1511" "-1" "1511" "-1" "c.1511-1G>A" "r.spl" "p.?" "12i" "" "0000499146" "00000927" "90" "190" "-2" "190" "-2" "c.190-2A>G" "r.spl" "p.?" "3i" "" "0000499147" "00000927" "50" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000499148" "00000927" "50" "116" "215" "116" "216" "c.116+215_116+216insCCTTT" "r.(?)" "p.(=)" "2i" "" "0000499149" "00000927" "50" "116" "215" "116" "216" "c.116+215_116+216insCCTTT" "r.(?)" "p.(=)" "2i" "" "0000499150" "00000927" "50" "116" "215" "116" "216" "c.116+215_116+216insCCTTT" "r.(?)" "p.(=)" "2i" "" "0000499151" "00000927" "50" "116" "215" "116" "216" "c.116+215_116+216insCCTTT" "r.(?)" "p.(=)" "2i" "" "0000499152" "00000927" "50" "116" "80" "116" "80" "c.116+80C>T" "r.(?)" "p.(=)" "2i" "" "0000499153" "00000927" "50" "116" "80" "116" "80" "c.116+80C>T" "r.(?)" "p.(=)" "2i" "" "0000499154" "00000927" "50" "1370" "0" "1370" "0" "c.1370T>C" "r.(?)" "p.(Leu457Pro)" "11" "" "0000499155" "00000927" "50" "1414" "-125" "1414" "-125" "c.1414-125C>G" "r.(?)" "p.(=)" "11i" "" "0000499156" "00000927" "50" "1414" "-125" "1414" "-125" "c.1414-125C>G" "r.(?)" "p.(=)" "11i" "" "0000499157" "00000927" "50" "1414" "-125" "1414" "-125" "c.1414-125C>G" "r.(?)" "p.(=)" "11i" "" "0000499158" "00000927" "50" "116" "80" "116" "80" "c.116+80C>T" "r.(?)" "p.(=)" "2i" "" "0000499159" "00000927" "50" "116" "80" "116" "80" "c.116+80C>T" "r.(?)" "p.(=)" "2i" "" "0000499160" "00000927" "50" "351" "0" "351" "0" "c.351A>G" "r.(?)" "p.(Ala117=)" "5" "" "0000499161" "00000927" "50" "351" "0" "351" "0" "c.351A>G" "r.(?)" "p.(Ala117=)" "5" "" "0000499162" "00000927" "50" "702" "410" "702" "410" "c.702+410A>G" "r.(?)" "p.(=)" "5i" "" "0000499163" "00000927" "50" "702" "71" "702" "71" "c.702+71C>T" "r.(?)" "p.(=)" "5i" "" "0000499164" "00000927" "50" "1414" "-125" "1414" "-125" "c.1414-125C>G" "r.(?)" "p.(=)" "11i" "" "0000499165" "00000927" "50" "1414" "-125" "1414" "-125" "c.1414-125C>G" "r.(?)" "p.(=)" "11i" "" "0000499166" "00000927" "50" "116" "80" "116" "80" "c.116+80C>T" "r.(?)" "p.(=)" "2i" "" "0000499167" "00000927" "50" "820" "-72" "820" "-72" "c.820-72A>G" "r.(?)" "p.(=)" "6i" "" "0000499168" "00000927" "50" "1327" "0" "1327" "0" "c.1327A>G" "r.(?)" "p.(Met443Val)" "10" "" "0000499169" "00000927" "50" "1370" "0" "1370" "0" "c.1370T>C" "r.(?)" "p.(Leu457Pro)" "11" "" "0000499170" "00000927" "50" "1370" "0" "1370" "0" "c.1370T>C" "r.(?)" "p.(Leu457Pro)" "11" "" "0000499171" "00000927" "50" "1609" "0" "1609" "0" "c.1609G>C" "r.spl?" "p.(Glu537Gln)" "13" "" "0000499172" "00000927" "50" "1649" "0" "1649" "0" "c.1649T>C" "r.(?)" "p.(Leu550Pro)" "14" "" "0000499173" "00000927" "50" "1649" "0" "1649" "0" "c.1649T>C" "r.(?)" "p.(Leu550Pro)" "14" "" "0000499174" "00000927" "50" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Leu80Phe)" "4" "" "0000499175" "00000927" "50" "1533" "0" "1533" "0" "c.1533dup" "r.(?)" "p.(Ser512Ilefs*3)" "13" "" "0000499176" "00000927" "50" "1350" "-14" "1350" "-10" "c.1350-14_1350-10del" "r.(?)" "p.(=)" "10i" "" "0000577720" "00000927" "50" "1922" "0" "1933" "0" "c.1922_1933dup" "r.(?)" "p.(Asn644_Leu645insGlnSerThrAsn)" "15" "" "0000577722" "00000927" "10" "1641" "0" "1641" "0" "c.1641G>T" "r.(?)" "p.(Leu547=)" "14" "" "0000577723" "00000927" "30" "1641" "0" "1641" "0" "c.1641G>T" "r.(?)" "p.(Leu547=)" "14" "" "0000577724" "00000927" "90" "1573" "0" "1573" "0" "c.1573C>T" "r.(?)" "p.(Gln525Ter)" "13" "" "0000577725" "00000927" "30" "1511" "-14" "1511" "-14" "c.1511-14T>A" "r.(=)" "p.(=)" "12i" "" "0000577726" "00000927" "50" "1504" "0" "1504" "0" "c.1504G>A" "r.(?)" "p.(Gly502Ser)" "12" "" "0000577727" "00000927" "90" "1503" "0" "1503" "0" "c.1503del" "r.(?)" "p.(Gly502AlafsTer7)" "12" "" "0000577728" "00000927" "30" "1349" "10" "1349" "10" "c.1349+10C>T" "r.(=)" "p.(=)" "10i" "" "0000577729" "00000927" "50" "1349" "6" "1349" "6" "c.1349+6G>A" "r.(=)" "p.(=)" "10i" "" "0000577731" "00000927" "30" "1245" "-8" "1245" "-6" "c.1245-8_1245-6del" "r.(=)" "p.(=)" "9i" "" "0000577732" "00000927" "50" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Ala342Thr)" "8" "" "0000577733" "00000927" "90" "938" "0" "940" "3" "c.938_940+3del" "r.spl?" "p.?" "7_7i" "" "0000577734" "00000927" "50" "862" "0" "862" "0" "c.862A>C" "r.(?)" "p.(Thr288Pro)" "7" "" "0000577735" "00000927" "50" "743" "0" "743" "0" "c.743A>C" "r.(?)" "p.(Lys248Thr)" "6" "" "0000577736" "00000927" "50" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Arg239Gln)" "6" "" "0000577738" "00000927" "90" "189" "1" "189" "1" "c.189+1G>A" "r.spl?" "p.?" "3i" "" "0000577740" "00000927" "10" "117" "-12" "117" "-12" "c.117-12dup" "r.(=)" "p.(=)" "2i" "" "0000577741" "00000927" "90" "116" "2" "116" "2" "c.116+2T>C" "r.spl?" "p.?" "2i" "" "0000577742" "00000927" "90" "116" "0" "116" "0" "c.116C>A" "r.(?)" "p.(Ser39Ter)" "2" "" "0000577743" "00000927" "50" "50" "0" "50" "0" "c.50G>C" "r.(?)" "p.(Gly17Ala)" "2" "" "0000619947" "00000927" "90" "816" "0" "816" "0" "c.816del" "r.(?)" "p.(Glu272AspfsTer19)" "6" "" "0000619948" "00000927" "90" "749" "0" "749" "0" "c.749del" "r.(?)" "p.(Asn250MetfsTer41)" "6" "" "0000619949" "00000927" "50" "629" "0" "629" "0" "c.629C>G" "r.(?)" "p.(Pro210Arg)" "5" "" "0000619950" "00000927" "70" "315" "-1536" "315" "-1536" "c.315-1536A>G" "r.(=)" "p.(=)" "4i" "" "0000624740" "00000927" "90" "1333" "0" "1342" "0" "c.1333_1342del" "r.(?)" "p.(Ser445AsnfsTer10)" "10" "" "0000624741" "00000927" "50" "324" "0" "324" "0" "c.324G>T" "r.(?)" "p.(Leu108Phe)" "5" "" "0000682683" "00000927" "30" "1244" "8" "1244" "8" "c.1244+8T>A" "r.(=)" "p.(=)" "9i" "" "0000682684" "00000927" "90" "1244" "1" "1244" "1" "c.1244+1G>A" "r.spl?" "p.?" "9i" "" "0000682685" "00000927" "50" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Asp162Asn)" "5" "" "0000684695" "00000927" "90" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Gln63*)" "3" "" "0000685095" "00000927" "90" "0" "0" "0" "0" "c.?" "r.0" "p.0" "" "" "0000685096" "00000927" "90" "1" "0" "190" "0" "c.-30_(189+1_190-1){0}" "r.?" "p.?" "_1_2i" "" "0000685097" "00000927" "90" "0" "0" "0" "0" "c.?" "r.?" "p.(Ala48_Glu113del)" "" "" "0000685098" "00000927" "90" "0" "0" "0" "0" "c.?" "r.?" "p.(Asp244Ilefs*2)" "" "" "0000685099" "00000927" "90" "1314" "0" "1314" "0" "c.1314C>G" "r.(?)" "p.(Tyr438*)" "10" "" "0000685100" "00000927" "90" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "7" "" "0000685101" "00000927" "90" "819" "1" "819" "1" "c.819+1G>C" "r.spl" "p.?" "6i" "" "0000685102" "00000927" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267*)" "6" "" "0000685103" "00000927" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "6" "" "0000685104" "00000927" "90" "564" "0" "565" "0" "c.564_565del" "r.(?)" "p.(Pro189Ilefs*9)" "5" "" "0000685105" "00000927" "90" "115" "1" "115" "1" "c.115+1G>A" "r.spl" "p.?" "2i" "" "0000685106" "00000927" "90" "315" "-1" "702" "1" "c.(314+1_315-1)_(702+1_703-1)del" "r.?" "p.?" "4i_5i" "" "0000704189" "00000927" "90" "262" "0" "263" "0" "c.262_263dup" "r.(?)" "p.(Ser89LeufsTer38)" "4" "" "0000712982" "00000927" "90" "0" "0" "0" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000712983" "00000927" "90" "0" "0" "0" "0" "c.-30_*3450{0}" "r.0" "p.0" "_1_15_" "" "0000712984" "00000927" "90" "50" "-1" "702" "1" "c.(49+1_50-1)_(702+1_703-1)del" "r.?" "p.(Gly17Alafs*10)" "1i_5i" "" "0000712985" "00000927" "90" "36" "0" "36" "0" "c.36del" "r.(?)" "p.(Ile12Metfs*2)" "1" "" "0000712986" "00000927" "90" "49" "3" "49" "3" "c.49+3A>G" "r.spl" "p.?" "1i" "" "0000712987" "00000927" "90" "49" "3" "49" "3" "c.49+3A>G" "r.spl" "p.?" "1i" "" "0000712988" "00000927" "90" "49" "5" "49" "5" "c.49+5G>T" "r.spl" "p.?" "1i" "" "0000712989" "00000927" "90" "116" "1" "116" "1" "c.116+1G>T" "r.spl" "p.?" "2i" "" "0000712990" "00000927" "90" "50" "-1" "1166" "1" "c.(49+1_50-1)_(1166+1_1167-1)del" "r.?" "p.(Leu18Cysfs*19)" "1i_8i" "" "0000712991" "00000927" "90" "0" "0" "0" "0" "c.(116+1_117-1)_*3450{0}" "r.?" "p.0" "2i_15_" "" "0000712992" "00000927" "90" "117" "-1" "314" "1" "c.(116+1_117-1)_(314+1_315-1)del" "r.?" "p.0?" "2i_4i" "" "0000712993" "00000927" "90" "190" "-13" "206" "0" "c.190-13_206del" "r.spl" "p.(Glu64Lysfs*2)" "3i_4" "" "0000712994" "00000927" "90" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Gln96*)" "4" "" "0000712995" "00000927" "90" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Gln96*)" "4" "" "0000712996" "00000927" "90" "315" "0" "318" "0" "c.315_318del" "r.(?)" "p.(Ser105Argfs*20)" "5" "" "0000712997" "00000927" "90" "328" "0" "328" "0" "c.328G>T" "r.(?)" "p.(Glu110*)" "5" "" "0000712998" "00000927" "90" "328" "0" "328" "0" "c.328G>T" "r.(?)" "p.(Glu110*)" "5" "" "0000712999" "00000927" "90" "328" "0" "328" "0" "c.328G>T" "r.(?)" "p.(Glu110*)" "5" "" "0000713000" "00000927" "90" "328" "0" "328" "0" "c.328G>T" "r.(?)" "p.(Glu110*)" "5" "" "0000713001" "00000927" "90" "328" "0" "328" "0" "c.328G>T" "r.(?)" "p.(Glu110*)" "5" "" "0000713002" "00000927" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Gln119*)" "5" "" "0000713003" "00000927" "90" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177Lysfs*6)" "5" "" "0000713004" "00000927" "90" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177Lysfs*6)" "5" "" "0000713005" "00000927" "90" "569" "0" "569" "0" "c.569C>G" "r.(?)" "p.(Ser190*)" "5" "" "0000713006" "00000927" "90" "647" "0" "647" "0" "c.647del" "r.(?)" "p.(Thr216Ilefs*16)" "5" "" "0000713007" "00000927" "90" "655" "0" "656" "0" "c.655_656del" "r.(?)" "p.(Gln219Asnfs*3)" "5" "" "0000713008" "00000927" "90" "655" "0" "656" "0" "c.655_656del" "r.(?)" "p.(Gln219Asnfs*3)" "5" "" "0000713009" "00000927" "90" "703" "-1" "1244" "1" "c.(702+1_703-1)_(1244+1_1245-1)del" "r.?" "p.0?" "5i_9i" "" "0000713010" "00000927" "90" "776" "0" "776" "0" "c.776del" "r.(?)" "p.(Asn259Ilefs*32)" "6" "" "0000713011" "00000927" "90" "0" "0" "0" "0" "c.(819+1_820-1)_*3450{0}" "r.?" "p.(Val274_Glu653delins13)" "6i_15_" "" "0000713012" "00000927" "90" "936" "0" "936" "0" "c.936dup" "r.(?)" "p.(Lys313*)" "7" "" "0000713013" "00000927" "90" "940" "1" "940" "1" "c.940+1G>C" "r.spl" "p.?" "7i" "" "0000713014" "00000927" "90" "1019" "0" "1020" "0" "c.1019_1020delinsGAC" "r.(?)" "p.(Ser340*)" "8" "" "0000713015" "00000927" "90" "1125" "0" "1125" "0" "c.1125dup" "r.(?)" "p.(Pro376Serfs*42)" "8" "" "0000713016" "00000927" "90" "1166" "1" "1166" "1" "c.1166+1G>A" "r.spl" "p.?" "8i" "" "0000713017" "00000927" "90" "1283" "0" "1283" "0" "c.1283dup" "r.(?)" "p.(Ser429Leufs*2)" "10" "" "0000713018" "00000927" "90" "1350" "-1" "1350" "-1" "c.1350-1G>A" "r.spl" "p.?" "10i" "" "0000713019" "00000927" "90" "1350" "0" "1350" "0" "c.1350G>T" "r.spl?" "p.(Arg450Ser)" "11" "" "0000713020" "00000927" "90" "1370" "0" "1370" "0" "c.1370T>C" "r.(?)" "p.(Leu457Pro)" "11" "" "0000713021" "00000927" "90" "1402" "0" "1403" "0" "c.1402_1403del" "r.(?)" "p.(Ser468Argfs*23)" "11" "" "0000713022" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000713023" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000713024" "00000927" "90" "1610" "-1" "1770" "1" "c.(1609+1_1610-1)_(1770+1_1771-1)del" "r.?" "p.(Glu537Glyfs*2)" "13i_14i" "" "0000713025" "00000927" "90" "1722" "0" "1725" "0" "c.1722_1725dup" "r.(?)" "p.(Ser576Leufs*11)" "14" "" "0000713026" "00000927" "90" "1770" "1" "1770" "1" "c.1770+1G>A" "r.(?)" "p.?" "14i" "" "0000713027" "00000927" "90" "1771" "-5" "1774" "0" "c.1771-5_1774del" "r.(?)" "p.?" "15" "" "0000713028" "00000927" "90" "1948" "0" "1948" "0" "c.1948dup" "r.(?)" "p.(Glu650Glyfs*4)" "15" "" "0000713029" "00000927" "90" "0" "0" "0" "0" "c.(1770+1_1771-1)_*3450{0}" "r.?" "p.(Ala591_Glu653delins13)" "14i_15_" "" "0000713030" "00000927" "90" "0" "0" "0" "0" "c.(1770+1_1771-1)_*3450{0}" "r.?" "p.(Ala591_Glu653delins13)" "14i_15_" "" "0000713539" "00000927" "90" "315" "-1536" "315" "-1536" "c.315-1536A>G" "r.314_315ins315-1535_315-1312" "p.Ser105Argfs*10" "" "" "0000714111" "00000927" "90" "315" "-1536" "315" "-1536" "c.315-1536A>G" "r.314_315ins315-1535_315-1312" "p.Ser105Argfs*10" "" "" "0000729245" "00000927" "90" "1511" "-1" "1511" "-1" "c.1511-1G>T" "r.spl?" "p.?" "" "" "0000729246" "00000927" "30" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ala123Val)" "" "" "0000729247" "00000927" "90" "319" "0" "343" "0" "c.319_343del" "r.(?)" "p.(Asp107Leufs*11)" "" "" "0000729248" "00000927" "50" "107" "0" "107" "0" "c.107A>T" "r.(?)" "p.(His36Leu)" "" "" "0000730207" "00000927" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270*)" "" "" "0000730969" "00000927" "90" "1768" "0" "1768" "0" "c.1768C>T" "r.(?)" "p.(Gln590*)" "" "" "0000730970" "00000927" "90" "116" "1" "116" "1" "c.116+1G>C" "r.spl" "p.?" "" "" "0000730971" "00000927" "90" "116" "1" "116" "1" "c.116+1G>C" "r.spl" "p.?" "" "" "0000730974" "00000927" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "" "" "0000732550" "00000927" "90" "49" "2" "49" "2" "c.49+2dup" "r.spl" "p.?" "" "" "0000732973" "00000927" "70" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "" "" "0000732974" "00000927" "70" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "" "" "0000732975" "00000927" "70" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "" "" "0000732976" "00000927" "70" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "" "" "0000732977" "00000927" "70" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "" "" "0000732978" "00000927" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "" "0000732979" "00000927" "70" "0" "0" "0" "0" "c.-30_1166+8052{0}" "r.0?" "p.0?" "_1_8i" "" "0000732980" "00000927" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "" "0000732981" "00000927" "90" "703" "-1327" "1166" "6314" "c.703-1327_1166+6314dup" "r.?" "p.?" "5i_8i" "" "0000732982" "00000927" "70" "49" "1" "49" "1" "c.49+1G>T" "r.spl" "p.?" "" "" "0000732983" "00000927" "70" "1094" "0" "1095" "0" "c.1094_1095del" "r.(?)" "p.(Leu365Argfs*52)" "" "" "0000732984" "00000927" "70" "770" "0" "771" "0" "c.770_771del" "r.(?)" "p.(Phe257*)" "" "" "0000732985" "00000927" "70" "22" "0" "33" "0" "c.22_33del" "r.(?)" "p.(Glu8_Val11del)" "" "" "0000732986" "00000927" "70" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177Lysfs*6)" "" "" "0000735944" "00000927" "70" "117" "-1" "1244" "1" "c.(116+1_117-1)_(1244+1_1245-1)del" "c.?" "p.?" "" "" "0000735945" "00000927" "70" "315" "-2" "315" "-2" "c.315-2A>G" "r.spl" "p.?" "" "" "0000735947" "00000927" "70" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Leu80Phe)" "" "" "0000736826" "00000927" "70" "1922" "0" "1933" "0" "c.1922_1933dup" "r.(?)" "p.(Asn644_Leu645insGlnSerThrAsn)" "" "" "0000759582" "00000927" "90" "476" "0" "476" "0" "c.476dup" "r.(?)" "p.(Ser160Lysfs*14)" "" "" "0000759583" "00000927" "90" "1164" "0" "1164" "0" "c.1164del" "r.(?)" "p.(Cys388*)" "" "" "0000759584" "00000927" "90" "1376" "0" "1376" "0" "c.1376C>G" "r.(?)" "p.(Thr459Arg)" "" "" "0000759585" "00000927" "90" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "" "" "0000759586" "00000927" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270*)" "" "" "0000759665" "00000927" "90" "116" "1" "116" "1" "c.116+1G>A" "p.(?)" "p.?" "" "" "0000759996" "00000927" "50" "223" "0" "223" "0" "c.223T>C" "r.(?)" "p.(Trp75Arg)" "" "" "0000760250" "00000927" "70" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Gln470*)" "" "" "0000760280" "00000927" "70" "49" "3" "49" "3" "c.49+3A>G" "r.spl" "p.?" "" "" "0000763596" "00000927" "90" "1510" "693" "1510" "694" "c.1510+693_1510+694ins[CACA;1414-1244_1510+402inv]" "r.[1414_1510del,1350_1510del]" "p.[Ser473TrpfsTer4,Gln451PhefsTer10]" "12i" "" "0000765630" "00000927" "90" "0" "0" "0" "0" "c.-30_49+187{0}" "r.0?" "p.0?" "1" "" "0000765746" "00000927" "70" "1144" "0" "1144" "0" "c.1144G>T" "r.(?)" "p.(Glu382Ter)" "" "" "0000780196" "00000927" "70" "1520" "0" "1520" "0" "c.1520A>G" "r.(?)" "p.(His507Arg)" "" "" "0000783996" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "" "" "0000785385" "00000927" "90" "50" "-1" "116" "1" "c.(49+1_50-1)_(116+1_117-1)del" "r.?" "p.?" "" "" "0000786364" "00000927" "90" "498" "0" "499" "0" "c.498_499del" "r.(?)" "p.(Leu167ArgfsTer6)" "" "" "0000786403" "00000927" "90" "1629" "0" "1636" "0" "c.1629_1636del" "r.(?)" "p.(Lys543AsnfsTer21)" "" "" "0000788160" "00000927" "50" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Ter)" "" "" "0000791186" "00000927" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Trp58*)" "3" "" "0000791187" "00000927" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Trp58*)" "3" "" "0000791188" "00000927" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Trp58*)" "3" "" "0000791549" "00000927" "70" "340" "0" "340" "0" "c.340G>T" "r.(?)" "p.(Glu114*)" "5" "" "0000791550" "00000927" "70" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "6" "" "0000792330" "00000927" "70" "117" "-1" "1166" "1" "c.(116+1_117-1)_(1166+1_1167-1)del" "?" "?" "" "" "0000794095" "00000927" "70" "403" "0" "404" "0" "c.403_404del" "r.(?)" "p.(Asp135Phefs*9)" "" "" "0000794188" "00000927" "70" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "" "" "0000794297" "00000927" "90" "315" "-1" "315" "-1" "c.315-1G>C" "r.spl" "p.?" "4i" "" "0000794815" "00000927" "70" "1272" "0" "1273" "0" "c.1272_1273delinsCT" "r.(?)" "p.(Gln425*)" "" "" "0000794816" "00000927" "70" "1272" "0" "1273" "0" "c.1272_1273delinsCT" "r.(?)" "p.(Gln425*)" "" "" "0000796989" "00000927" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "7" "" "0000797567" "00000927" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "" "0000797568" "00000927" "90" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "" "" "0000810708" "00000927" "30" "1671" "0" "1671" "0" "c.1671G>A" "r.(?)" "p.(Ser557=)" "" "" "0000810709" "00000927" "30" "1244" "44" "1244" "45" "c.1244+44_1244+45insATATTCATATATATATATATATATAT" "r.(=)" "p.(=)" "" "" "0000810710" "00000927" "30" "757" "0" "757" "0" "c.757C>A" "r.(?)" "p.(Arg253=)" "" "" "0000811516" "00000927" "90" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Gln63Ter)" "" "" "0000812525" "00000927" "70" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267*)" "" "" "0000812771" "00000927" "90" "49" "1" "49" "1" "c.49+1G>T" "r.spl" "p.(?)" "" "" "0000812810" "00000927" "90" "819" "1" "819" "1" "c.819+1G>A" "r.spl" "p.(?)" "" "" "0000812841" "00000927" "90" "117" "-3" "117" "0" "c.117-3_117del" "r.spl" "p.(?)" "" "" "0000815417" "00000927" "50" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ser39Leu)" "" "" "0000816093" "00000927" "70" "117" "-331" "314" "251" "c.117-331_314+251del" "r.spl" "p.(?)" "" "" "0000816148" "00000927" "90" "1314" "0" "1314" "0" "c.1314C>G" "r.(?)" "p.(Tyr438*)" "" "" "0000819048" "00000927" "70" "1514" "0" "1514" "0" "c.1514delT" "r.(?)" "p.(Leu505Trpfs*4)" "" "" "0000819060" "00000927" "70" "340" "0" "340" "0" "c.340G>T" "r.(?)" "p.(Glu114*)" "" "" "0000819328" "00000927" "70" "924" "0" "924" "0" "c.924T>G" "r.(?)" "p.(Tyr308*)" "" "" "0000819329" "00000927" "70" "924" "0" "924" "0" "c.924T>G" "r.(?)" "p.(Tyr308*)" "" "" "0000819330" "00000927" "70" "924" "0" "924" "0" "c.924T>G" "r.(?)" "p.(Tyr308*)" "" "" "0000819331" "00000927" "70" "419" "0" "419" "0" "c.419del" "r.(?)" "p.(Pro140Leufs*7)" "" "" "0000819337" "00000927" "70" "652" "0" "655" "0" "c.652_655del" "r.(?)" "p.(Ser218Lysfs*13)" "" "" "0000819345" "00000927" "70" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "" "" "0000819393" "00000927" "70" "315" "0" "318" "0" "c.315_318del" "r.(?)" "p.(Ser105Argfs*20)" "" "" "0000819394" "00000927" "70" "315" "0" "318" "0" "c.315_318del" "r.(?)" "p.(Ser105Argfs*20)" "" "" "0000819418" "00000927" "70" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "" "" "0000819425" "00000927" "70" "1413" "1" "1413" "1" "c.1413+1G>T" "r.spl" "p.(?)" "" "" "0000819452" "00000927" "70" "124" "0" "133" "0" "c.124_133dup" "r.(?)" "p.(Gly45Valfs*10)" "" "" "0000819456" "00000927" "70" "-27" "0" "49" "1" "c.(?_-27)_(49+1_50-1)del" "r.spl" "p.(?)" "" "" "0000819457" "00000927" "70" "-27" "0" "49" "1" "c.(?_-27)_(49+1_50-1)del" "r.spl" "p.(?)" "" "" "0000819458" "00000927" "70" "-27" "0" "49" "1" "c.(?_-27)_(49+1_50-1)del" "r.spl" "p.(?)" "" "" "0000819478" "00000927" "70" "1531" "0" "1532" "0" "c.1531_1532ins15" "r.(?)" "p.(?)" "" "" "0000819490" "00000927" "70" "315" "-4587" "315" "-4587" "c.315-4587T>A" "r.(?)" "p.(?)" "" "" "0000819496" "00000927" "70" "941" "-1" "941" "-1" "c.941-1G>T" "r.(?)" "p.(?)" "" "" "0000819514" "00000927" "70" "116" "0" "116" "0" "c.116C>G" "r.(?)" "p.(Ser39*)" "" "" "0000819517" "00000927" "70" "616" "0" "616" "0" "c.616dup" "r.(?)" "p.(Thr206Asnfs*17)" "" "" "0000819518" "00000927" "70" "616" "0" "616" "0" "c.616dup" "r.(?)" "p.(Thr206Asnfs*17)" "" "" "0000819523" "00000927" "70" "117" "-1" "5412" "0" "c.(116+1_117-1)_(*3450_?)del" "r.spl" "p.(?)" "" "" "0000819526" "00000927" "70" "498" "0" "499" "0" "c.498_499dup" "r.(?)" "p.(Leu167Argfs*2)" "" "" "0000819527" "00000927" "70" "1244" "1" "1244" "1" "c.1244+1G>C" "r.spl" "p.(?)" "" "" "0000819534" "00000927" "70" "1446" "0" "1446" "0" "c.1446del" "r.(?)" "p.(Gly483Glufs*15)" "" "" "0000819537" "00000927" "70" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "" "" "0000819546" "00000927" "70" "309" "0" "309" "0" "c.309T>A" "r.(?)" "p.(Tyr103*)" "" "" "0000819549" "00000927" "70" "1358" "0" "1359" "0" "c.1358_1359delinsG" "r.(?)" "p.(Ser453*)" "" "" "0000819554" "00000927" "70" "1358" "0" "1359" "0" "c.1358_1359delinsG" "r.(?)" "p.(Ser453*)" "" "" "0000819555" "00000927" "70" "1358" "0" "1359" "0" "c.1358_1359delinsG" "r.(?)" "p.(Ser453*)" "" "" "0000819558" "00000927" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "" "0000819562" "00000927" "70" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Gln157*)" "" "" "0000819565" "00000927" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "" "0000819566" "00000927" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "" "0000819567" "00000927" "70" "1511" "-1" "1770" "1" "c.(1510+1_1511-1)_(1770+1_1771-1)del" "r.spl" "p.(?)" "" "" "0000819568" "00000927" "70" "1511" "-1" "1770" "1" "c.(1510+1_1511-1)_(1770+1_1771-1)del" "r.spl" "p.(?)" "" "" "0000819574" "00000927" "70" "116" "0" "116" "0" "c.116C>G" "r.(?)" "p.(Ser39*)" "" "" "0000819577" "00000927" "70" "1771" "-1" "5412" "0" "c.(1770+1_1771-1)_(*3450_?)del" "r.spl" "p.(?)" "" "" "0000819587" "00000927" "70" "386" "0" "399" "0" "c.386_399delinsG" "r.(?)" "p.(Asn129Argfs*14)" "" "" "0000819589" "00000927" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "" "0000819590" "00000927" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "" "0000819593" "00000927" "70" "1531" "0" "1532" "0" "c.1531_1532ins15" "r.(?)" "p.(?)" "" "" "0000819598" "00000927" "70" "1484" "0" "1484" "0" "c.1484C>A" "r.(?)" "p.(Ser495*)" "" "" "0000819602" "00000927" "70" "1651" "0" "1655" "0" "c.1651_1655del" "r.(?)" "p.(Tyr551Glnfs*14)" "" "" "0000819623" "00000927" "70" "22" "0" "22" "0" "c.22G>T" "r.(?)" "p.(Glu8*)" "" "" "0000819624" "00000927" "70" "22" "0" "22" "0" "c.22G>T" "r.(?)" "p.(Glu8*)" "" "" "0000819625" "00000927" "70" "22" "0" "22" "0" "c.22G>T" "r.(?)" "p.(Glu8*)" "" "" "0000819626" "00000927" "70" "22" "0" "22" "0" "c.22G>T" "r.(?)" "p.(Glu8*)" "" "" "0000819630" "00000927" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "" "0000819631" "00000927" "70" "1511" "-1" "1770" "1" "c.(1510+1_1511-1)_(1770+1_1771-1)del" "r.spl" "p.(?)" "" "" "0000819632" "00000927" "70" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548*)" "" "" "0000822687" "00000927" "70" "-33" "0" "5412" "0" "c.(?_-33)_(*3450_?)del" "r.0?" "p.0?" "_1_15_" "" "0000823227" "00000927" "90" "525" "0" "525" "0" "c.525del" "r.(?)" "p.(Glu177Lysfs*20)" "" "" "0000823228" "00000927" "50" "820" "-1" "1510" "1" "c.(819+1_820-1)_(1510+1_1511+1)del" "r.spl" "p.(?)" "" "" "0000823229" "00000927" "90" "1639" "0" "1651" "0" "c.1639_1651del" "r.(?)" "p.(Leu547Thrfs*4)" "" "" "0000824666" "00000927" "90" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177LysfsTer6)" "" "" "0000824697" "00000927" "90" "1167" "0" "1167" "0" "c.1167del" "r.(?)" "p.(Met390CysfsTer19)" "" "" "0000824743" "00000927" "70" "1424" "0" "1424" "0" "c.1424del" "r.(?)" "p.(Leu475Ter)" "" "" "0000825694" "00000927" "70" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "7" "" "0000825695" "00000927" "70" "189" "3" "189" "3" "c.189+3A>G" "r.spl?" "p.?" "3i" "" "0000825702" "00000927" "70" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "7" "" "0000825703" "00000927" "70" "1745" "0" "1745" "0" "c.1745T>A" "r.(?)" "p.(Leu582*)" "14" "" "0000825783" "00000927" "70" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "6" "" "0000825813" "00000927" "70" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270*)" "6" "" "0000825852" "00000927" "70" "315" "-1" "315" "-1" "c.315-1G>C" "r.spl?" "p.?" "4i" "" "0000825884" "00000927" "70" "1696" "0" "1697" "0" "c.1696_1697insT" "r.(?)" "p.(Asn566Ilefs*2)" "14" "" "0000825965" "00000927" "70" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270*)" "6" "" "0000825971" "00000927" "70" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "7" "" "0000826026" "00000927" "70" "974" "0" "974" "0" "c.974del" "r.(?)" "p.(Lys325Argfs*5)" "8" "" "0000826249" "00000927" "70" "1033" "0" "1034" "0" "c.1033_1034insG" "r.(?)" "p.(Ser345Cysfs*73)" "8" "" "0000826997" "00000927" "70" "476" "0" "476" "0" "c.476delC" "r.(?)" "p.(Pro159Glnfs*9)" "" "" "0000826998" "00000927" "70" "1350" "-1" "1413" "1" "c.(1349+1_1350-1)_(1413+1_1414-1)del" "r.spl" "p.(?)" "" "" "0000827614" "00000927" "70" "688" "0" "688" "0" "c.688delinsTG" "r.(?)" "p.(Asp230Ter)" "" "" "0000827615" "00000927" "70" "688" "0" "688" "0" "c.688delinsTG" "r.(?)" "p.(Asp230Ter)" "" "" "0000827617" "00000927" "90" "1718" "0" "1719" "0" "c.1718_1719del" "r.(?)" "p.(Tyr573CysfsTer12)" "" "" "0000827618" "00000927" "90" "1718" "0" "1719" "0" "c.1718_1719del" "r.(?)" "p.(Tyr573CysfsTer12)" "" "" "0000827621" "00000927" "50" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "" "" "0000828845" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "" "" "0000828932" "00000927" "90" "855" "0" "855" "0" "c.855dup" "r.(?)" "p.(Gln286Thrfs*21)" "" "" "0000829765" "00000927" "70" "-1" "0" "49" "1" "c.(?_-1)_(49+1_50-1)del" "r.0?" "p.0?" "" "" "0000832184" "00000927" "90" "-30" "-1" "5412" "1" "c.-30-1_*3450+1del" "r.spl?" "p.?" "1_15" "" "0000832185" "00000927" "90" "-30" "-1" "5412" "1" "c.-30-1_*3450+1del" "r.spl?" "p.?" "1_15" "" "0000832186" "00000927" "90" "190" "-1" "314" "1" "c.190-1_314+1dup" "r.spl?" "p.?" "3i_4i" "" "0000832187" "00000927" "90" "190" "-1" "314" "1" "c.190-1_314+1dup" "r.spl?" "p.?" "3i_4i" "" "0000832188" "00000927" "90" "190" "-1" "314" "1" "c.190-1_314+1dup" "r.spl?" "p.?" "3i_4i" "" "0000832189" "00000927" "90" "49" "5" "49" "5" "c.49+5G>C" "r.spl?" "p.?" "1i" "" "0000832190" "00000927" "90" "117" "-1" "5412" "1" "c.117-1_*3450+1del" "r.spl?" "p.?" "2i_15" "" "0000832191" "00000927" "90" "-30" "-1" "5412" "1" "c.-30-1_*3450+1del" "r.spl?" "p.?" "1_15" "" "0000832192" "00000927" "90" "-30" "-1" "5412" "1" "c.-30-1_*3450+1del" "r.spl?" "p.?" "1_15" "" "0000832193" "00000927" "90" "1370" "0" "1370" "0" "c.1370T>C" "r.(?)" "p.(Leu457Pro)" "11" "" "0000832194" "00000927" "90" "1370" "0" "1370" "0" "c.1370T>C" "r.(?)" "p.(Leu457Pro)" "11" "" "0000832195" "00000927" "90" "1370" "0" "1370" "0" "c.1370T>C" "r.(?)" "p.(Leu457Pro)" "11" "" "0000832196" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000832197" "00000927" "90" "1176" "0" "1176" "0" "c.1176dupT" "r.(?)" "p.(Val393Cysfs*25)" "9" "" "0000832198" "00000927" "90" "525" "0" "526" "0" "c.525_526delAG" "r.(?)" "p.(Glu177Lysfs*6)" "5" "" "0000832199" "00000927" "90" "1673" "0" "1673" "0" "c.1673C>G" "r.(?)" "p.(Ser558*)" "14" "" "0000832200" "00000927" "90" "1673" "0" "1673" "0" "c.1673C>G" "r.(?)" "p.(Ser558*)" "14" "" "0000832201" "00000927" "90" "83" "0" "83" "0" "c.83C>G" "r.(?)" "p.(Ser28*)" "2" "" "0000832202" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587delTGTT" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000832203" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587delTGTT" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000832204" "00000927" "90" "1438" "0" "1438" "0" "c.1438G>T" "r.(?)" "p.(Glu480*)" "12" "" "0000832205" "00000927" "90" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "6" "" "0000832206" "00000927" "90" "666" "0" "669" "0" "c.666_669del" "r.(?)" "p.(Glu223Alafs*8)" "5" "" "0000832207" "00000927" "90" "666" "0" "669" "0" "c.666_669del" "r.(?)" "p.(Glu223Alafs*8)" "5" "" "0000832208" "00000927" "90" "315" "0" "318" "0" "c.315_318del" "r.(?)" "p.(Ser105Argfs*20)" "5" "" "0000832209" "00000927" "90" "-29" "-1" "5412" "1" "c.-29-1_5412+1del" "r.spl?" "p.?" "1_15" "" "0000832210" "00000927" "90" "-29" "-1" "5412" "1" "c.-29-1_5412+1del" "r.spl?" "p.?" "1_15" "" "0000832211" "00000927" "90" "49" "1" "49" "1" "c.49+1G>A" "r.spl?" "p.?" "1i" "" "0000832212" "00000927" "90" "49" "1" "49" "1" "c.49+1G>A" "r.spl?" "p.?" "1i" "" "0000832213" "00000927" "90" "49" "1" "49" "1" "c.49+1G>A" "r.spl?" "p.?" "1i" "" "0000832214" "00000927" "30" "116" "80" "116" "80" "c.116+80C>T" "r.(=)" "p.(=)" "2i" "" "0000832215" "00000927" "30" "280" "0" "280" "0" "c.280delA" "r.(?)" "p.(Thr94Leufs*32)" "4" "" "0000832216" "00000927" "30" "940" "143" "940" "143" "c.940+143C>A" "r.(=)" "p.(=)" "7i" "" "0000832217" "00000927" "30" "1413" "55" "1413" "55" "c.1413+55G>T" "r.(=)" "p.(=)" "11i" "" "0000832218" "00000927" "30" "127" "0" "127" "0" "c.127T>C" "r.(?)" "p.(Tyr43His)" "3" "" "0000832219" "00000927" "30" "116" "80" "116" "80" "c.116+80C>T" "r.(=)" "p.(=)" "2i" "" "0000832220" "00000927" "90" "280" "0" "280" "0" "c.280delA" "r.(?)" "p.(Thr94Leufs*32)" "4" "" "0000832221" "00000927" "30" "116" "735" "116" "735" "c.116+735A>G" "r.(=)" "p.(=)" "2i" "" "0000832222" "00000927" "30" "116" "21312" "116" "21312" "c.116+21312C>A" "r.(=)" "p.(=)" "2i" "" "0000832223" "00000927" "30" "117" "-12" "117" "-12" "c.117-12delT" "r.(=)" "p.(=)" "2i" "" "0000832224" "00000927" "30" "351" "0" "351" "0" "c.351A>G" "r.(=)" "p.(=)" "5" "" "0000832225" "00000927" "30" "703" "-1776" "703" "-1776" "c.703-1776G>A" "r.(=)" "p.(=)" "5i" "" "0000832226" "00000927" "30" "1244" "44" "1244" "45" "c.1244+44_1244+45insATAT" "r.(=)" "p.(=)" "9i" "" "0000832227" "00000927" "30" "1510" "3607" "1510" "3607" "c.1510+3607A>G" "r.(=)" "p.(=)" "12i" "" "0000832228" "00000927" "70" "1359" "0" "1359" "0" "c.1359C>T" "r.(=)" "p.(=)" "11" "" "0000832229" "00000927" "70" "1359" "0" "1359" "0" "c.1359C>T" "r.(=)" "p.(=)" "11" "" "0000832230" "00000927" "90" "282" "0" "282" "0" "c.282delT" "r.(?)" "p.(Ile95Phefs*31)" "4" "" "0000832231" "00000927" "70" "1359" "0" "1359" "0" "c.1359C>T" "r.(=)" "p.(=)" "11" "" "0000832232" "00000927" "70" "22" "0" "22" "0" "c.22delG" "r.(?)" "p.(Glu8Serfs*4)" "1" "" "0000832233" "00000927" "70" "22" "0" "22" "0" "c.22delG" "r.(?)" "p.(Glu8Serfs*4)" "1" "" "0000832234" "00000927" "70" "22" "0" "22" "0" "c.22delG" "r.(?)" "p.(Glu8Serfs*4)" "1" "" "0000832238" "00000927" "70" "22" "0" "22" "0" "c.22delG" "r.(?)" "p.(Glu8Serfs*4)" "1" "" "0000832239" "00000927" "70" "1960" "0" "1960" "0" "c.1960T>C" "r.(?)" "p.(*654Glnext*14)" "15" "" "0000832240" "00000927" "90" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "7" "" "0000832241" "00000927" "70" "1257" "0" "1257" "0" "c.1257del" "r.(?)" "p.(Ile420*)" "10" "" "0000832242" "00000927" "70" "1103" "0" "1121" "0" "c.1103_1121delATGGCAACACTCCATTTTT" "r.(?)" "p.(Tyr368Cysfs*35)" "8" "" "0000832243" "00000927" "90" "1414" "-2" "1414" "-2" "c.1414-2A>T" "r.spl?" "p.?" "11i" "" "0000832244" "00000927" "90" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Gln405*)" "9" "" "0000832245" "00000927" "70" "117" "-1" "117" "-1" "c.117-1G>A" "r.spl?" "p.?" "2i" "" "0000832246" "00000927" "90" "97" "0" "98" "0" "c.97_98insSVA" "r.50_116del" "p.(Arg33insSVA)" "2" "" "0000832247" "00000927" "70" "1335" "0" "1335" "0" "c.1335dup" "r.[(1335dup;1350_1413del)]" "p.?" "10" "" "0000832248" "00000927" "90" "1593" "0" "1593" "0" "c.1593T>A" "r.(?)" "p.(Tyr531*)" "13" "" "0000832249" "00000927" "90" "820" "-2" "820" "-2" "c.820-2A>T" "r.spl?" "p.?" "6i" "" "0000832250" "00000927" "90" "820" "-2" "820" "-2" "c.820-2A>T" "r.spl?" "p.?" "6i" "" "0000832251" "00000927" "90" "820" "-2" "820" "-2" "c.820-2A>T" "r.spl?" "p.?" "6i" "" "0000832252" "00000927" "90" "1079" "0" "1079" "0" "c.1079delA" "r.(?)" "p.(Asn360Thrfs*49)" "8" "" "0000832253" "00000927" "70" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Gly176Glu)" "5" "" "0000832254" "00000927" "70" "529" "0" "530" "0" "c.529_530delinsTG" "r.(?)" "p.(Glu177*)" "5" "" "0000832255" "00000927" "50" "50" "-1" "116" "1" "c.50-1_116+1del" "r.spl?" "p.?" "1i_2i" "" "0000832256" "00000927" "90" "1034" "0" "1034" "0" "c.1034C>G" "r.(?)" "p.(Ser345*)" "8" "" "0000832257" "00000927" "90" "1034" "0" "1034" "0" "c.1034C>G" "r.(?)" "p.(Ser345*)" "8" "" "0000832258" "00000927" "90" "315" "0" "318" "0" "c.315_318del" "r.(?)" "p.(Ser105Argfs*20)" "5" "" "0000832259" "00000927" "70" "646" "0" "646" "0" "c.646delA" "r.(?)" "p.(Thr216Leufs*16)" "5" "" "0000832260" "00000927" "90" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "6" "" "0000832261" "00000927" "70" "616" "0" "616" "0" "c.616dupA" "r.(?)" "p.(Thr206Asnfs*17)" "5" "" "0000832262" "00000927" "70" "616" "0" "616" "0" "c.616dupA" "r.(?)" "p.(Thr206Asnfs*17)" "5" "" "0000832263" "00000927" "70" "616" "0" "616" "0" "c.616dupA" "r.(?)" "p.(Thr206Asnfs*17)" "5" "" "0000832264" "00000927" "50" "1649" "0" "1649" "0" "c.1649T>C" "r.(?)" "p.(Leu550Pro)" "14" "" "0000832265" "00000927" "70" "616" "0" "616" "0" "c.616dupA" "r.(?)" "p.(Thr206Asnfs*17)" "5" "" "0000832266" "00000927" "70" "616" "0" "616" "0" "c.616dupA" "r.(?)" "p.(Thr206Asnfs*17)" "5" "" "0000832267" "00000927" "50" "49" "5" "49" "5" "c.49+5G>A" "r.spl?" "p.?" "1i" "" "0000832268" "00000927" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "0000832269" "00000927" "50" "116" "5" "116" "5" "c.116+5G>A" "r.spl?" "p.?" "2i" "" "0000832270" "00000927" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Gln380*)" "8" "" "0000832271" "00000927" "90" "819" "0" "819" "0" "c.819G>T" "r.(?)" "p.(Gln273His)" "6" "" "0000832272" "00000927" "90" "1511" "-1" "1511" "-1" "c.1511-1G>A" "r.spl?" "p.?" "12i" "" "0000832273" "00000927" "30" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Gln380*)" "8" "" "0000832274" "00000927" "90" "889" "0" "889" "0" "c.889A>T" "r.(?)" "p.(Lys297*)" "7" "" "0000832275" "00000927" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267*)" "6" "" "0000832276" "00000927" "90" "116" "1" "116" "1" "c.116+1G>A" "r.spl?" "p.?" "2i" "" "0000832277" "00000927" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Gln380*)" "8" "" "0000832278" "00000927" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "0000832279" "00000927" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Gln380*)" "8" "" "0000832280" "00000927" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Gln380*)" "8" "" "0000832281" "00000927" "90" "116" "1" "116" "1" "c.116+1G>A" "r.spl?" "p.?" "2i" "" "0000832282" "00000927" "90" "190" "-1" "190" "-1" "c.190-1G>T" "r.spl?" "p.?" "3i" "" "0000832283" "00000927" "90" "190" "-1" "190" "-1" "c.190-1G>T" "r.spl?" "p.?" "3i" "" "0000832284" "00000927" "90" "1438" "0" "1438" "0" "c.1438G>T" "r.(?)" "p.(Glu480*)" "12" "" "0000832287" "00000927" "90" "1358" "0" "1359" "0" "c.1358_1359delinsG" "r.(?)" "p.(Ser453*)" "11" "" "0000832288" "00000927" "90" "-30" "0" "5412" "0" "c.-30_*3450del" "r.?" "p.?" "1_15" "" "0000832289" "00000927" "90" "-30" "0" "5412" "0" "c.-30_*3450del" "r.?" "p.?" "1_15" "" "0000832290" "00000927" "90" "-30" "0" "5412" "0" "c.-30_*3450del" "r.?" "p.?" "1_15" "" "0000832291" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000832292" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000832293" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000832294" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000832295" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000832296" "00000927" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267*)" "6" "" "0000832297" "00000927" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267*)" "6" "" "0000832298" "00000927" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267*)" "6" "" "0000832299" "00000927" "70" "820" "-1" "820" "-1" "c.820-1G>A" "r.spl?" "p.?" "6i" "" "0000832300" "00000927" "90" "589" "0" "589" "0" "c.589dup" "r.(?)" "p.(Ser197Lysfs*2)" "5" "" "0000832301" "00000927" "90" "49" "1" "49" "1" "c.49+1G>T" "r.spl?" "p.?" "1i" "" "0000832302" "00000927" "90" "49" "1" "49" "1" "c.49+1G>T" "r.spl?" "p.?" "1i" "" "0000832303" "00000927" "90" "49" "1" "49" "1" "c.49+1G>T" "r.spl?" "p.?" "1i" "" "0000832304" "00000927" "90" "1010" "0" "1015" "0" "c.1010_1015delinsCA" "r.(?)" "p.(Val337Alafs*6)" "8" "" "0000832305" "00000927" "90" "1010" "0" "1015" "0" "c.1010_1015delinsCA" "r.(?)" "p.(Val337Alafs*6)" "8" "" "0000832306" "00000927" "90" "1286" "0" "1287" "0" "c.1286_1287del" "r.(?)" "p.(Ser429*)" "10" "" "0000832307" "00000927" "90" "1286" "0" "1287" "0" "c.1286_1287del" "r.(?)" "p.(Ser429*)" "10" "" "0000832308" "00000927" "90" "1286" "0" "1287" "0" "c.1286_1287del" "r.(?)" "p.(Ser429*)" "10" "" "0000832309" "00000927" "90" "1286" "0" "1287" "0" "c.1286_1287del" "r.(?)" "p.(Ser429*)" "10" "" "0000832310" "00000927" "90" "1771" "-1" "3924" "0" "c.1771-1_*1962del" "r.spl?" "p.?" "14i_15" "" "0000832311" "00000927" "90" "1771" "-1" "3924" "0" "c.1771-1_*1962del" "r.spl?" "p.?" "14i_15" "" "0000832312" "00000927" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "6" "" "0000832313" "00000927" "90" "1771" "-1" "3924" "0" "c.1771-1_*1962del" "r.spl?" "p.?" "14i_15" "" "0000832314" "00000927" "90" "1771" "-1" "3924" "0" "c.1771-1_*1962del" "r.spl?" "p.?" "14i_15" "" "0000832315" "00000927" "90" "767" "0" "768" "0" "c.767_768del" "r.(?)" "p.(Glu256Valfs*2)" "6" "" "0000832316" "00000927" "90" "767" "0" "768" "0" "c.767_768del" "r.(?)" "p.(Glu256Valfs*2)" "6" "" "0000832317" "00000927" "90" "999" "0" "1000" "0" "c.999_1000insT" "r.(?)" "p.(Gln334Serfs*84)" "8" "" "0000832318" "00000927" "90" "999" "0" "1000" "0" "c.999_1000insT" "r.(?)" "p.(Gln334Serfs*84)" "8" "" "0000845284" "00000927" "70" "529" "0" "529" "0" "c.529del" "r.(?)" "p.(Glu177Lysfs*20)" "5" "" "0000845285" "00000927" "70" "1245" "-1" "1413" "1" "c.1245-1_1413+1del" "r.spl?" "p.?" "9i_11i" "" "0000845286" "00000927" "70" "1511" "-1" "5412" "0" "c.1511-1_*3450del" "r.spl?" "p.?" "12i_15" "" "0000845287" "00000927" "70" "535" "0" "538" "0" "c.535_538del" "r.(?)" "p.(Glu179Thrfs*17)" "5" "" "0000845288" "00000927" "70" "-30" "-1" "49" "1" "c.-30-1_49+1del" "r.spl?" "p.?" "1" "" "0000845289" "00000927" "70" "649" "0" "652" "0" "c.649_652del" "r.(?)" "p.(Tyr217Hisfs*14)" "5" "" "0000845290" "00000927" "70" "649" "0" "652" "0" "c.649_652del" "r.(?)" "p.(Tyr217Hisfs*14)" "5" "" "0000845291" "00000927" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "5" "" "0000845292" "00000927" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "10" "" "0000845293" "00000927" "70" "-30" "-1" "1413" "1" "c.-30-1_1413+1del" "r.spl?" "p.?" "1_11i" "" "0000845294" "00000927" "70" "1584" "0" "1587" "0" "c.1584_1587del" "r.(?)" "p.(Val529Hisfs*7)" "13" "" "0000845295" "00000927" "70" "1245" "-1" "5412" "0" "c.1245-1_*3450del" "r.spl?" "p.?" "9i_15" "" "0000845296" "00000927" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "5" "" "0000845297" "00000927" "70" "737" "0" "741" "0" "c.737_741del" "r.(?)" "p.(Leu246Glnfs*3)" "6" "" "0000845298" "00000927" "70" "1414" "-1" "1609" "1" "c.1414-1_1609+1del" "r.spl?" "p.?" "11i_13i" "" "0000845299" "00000927" "70" "652" "0" "655" "0" "c.652_655del" "r.(?)" "p.(Ser218Lysfs*13)" "5" "" "0000845300" "00000927" "70" "1079" "0" "1079" "0" "c.1079del" "r.(?)" "p.(Asn360Thrfs*49)" "8" "" "0000845301" "00000927" "70" "117" "-1" "5412" "0" "c.117-1_*3450del" "r.spl?" "p.?" "2i_15" "" "0000845302" "00000927" "70" "315" "-1" "1166" "1" "c.315-1_1166+1del" "r.spl?" "p.?" "4i_8i" "" "0000845303" "00000927" "70" "117" "-1" "189" "1" "c.117-1_189+1del" "r.spl?" "p.?" "2i_3i" "" "0000845304" "00000927" "70" "50" "-1" "940" "1" "c.50-1_940+1del" "r.spl?" "p.?" "1i_7i" "" "0000845305" "00000927" "70" "1300" "0" "1303" "0" "c.1300_1303del" "r.(?)" "p.(Val434Argfs*23)" "10" "" "0000845306" "00000927" "70" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177Lysfs*6)" "5" "" "0000845307" "00000927" "70" "1079" "0" "1079" "0" "c.1079del" "r.(?)" "p.(Asn360Thrfs*49)" "8" "" "0000845308" "00000927" "70" "1167" "-1" "1244" "1" "c.1167-1_1244+1del" "r.spl?" "p.?" "8i_9i" "" "0000845309" "00000927" "70" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177Lysfs*6)" "5" "" "0000845310" "00000927" "70" "117" "-1" "314" "1" "c.117-1_314+1del" "r.spl?" "p.?" "2i_4i" "" "0000845311" "00000927" "70" "492" "0" "493" "0" "c.492_493del" "r.(?)" "p.(Asn165Cysfs*8)" "5" "" "0000845312" "00000927" "70" "492" "0" "493" "0" "c.492_493del" "r.(?)" "p.(Asn165Cysfs*8)" "5" "" "0000845313" "00000927" "70" "1167" "-1" "1244" "1" "c.1167-1_1244+1del" "r.spl?" "p.?" "8i_9i" "" "0000845314" "00000927" "70" "1762" "0" "1765" "0" "c.1762_1765del" "r.(?)" "p.(Val588Asnfs*60)" "14" "" "0000845315" "00000927" "70" "1245" "-1" "5412" "0" "c.1245-1_*3450del" "r.spl?" "p.?" "9i_15" "" "0000845316" "00000927" "70" "886" "0" "886" "0" "c.886del" "r.(?)" "p.(Met296*)" "7" "" "0000845317" "00000927" "70" "492" "0" "493" "0" "c.492_493delGA" "r.(?)" "p.(Asn165Cysfs*8)" "5" "" "0000845318" "00000927" "70" "-30" "-1" "5412" "0" "c.-30-1_*3450del" "r.spl?" "p.?" "1_15" "" "0000845319" "00000927" "70" "872" "0" "880" "0" "c.872_880del" "r.(?)" "p.(Glu291_Met294delinsVal)" "7" "" "0000845320" "00000927" "70" "652" "0" "655" "0" "c.652_655del" "r.(?)" "p.(Ser218Lysfs*13)" "5" "" "0000845321" "00000927" "70" "-30" "-1" "5412" "0" "c.-30-1_*3450del" "r.spl?" "p.?" "1_15" "" "0000845322" "00000927" "70" "179" "0" "179" "0" "c.179del" "r.(?)" "p.(Lys60Argfs*10)" "3" "" "0000845323" "00000927" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "5" "" "0000845324" "00000927" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "5" "" "0000845325" "00000927" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "5" "" "0000845326" "00000927" "70" "1335" "0" "1335" "0" "c.1335dup" "r.(?)" "p.(Arg446Thrfs*16)" "10" "" "0000845327" "00000927" "70" "495" "0" "495" "0" "c.495dup" "r.(?)" "p.(Ala166Cysfs*8)" "5" "" "0000845328" "00000927" "70" "-30" "-1" "116" "1" "c.-30-1_116+1del" "r.spl?" "p.?" "1_2i" "" "0000845329" "00000927" "70" "933" "0" "933" "0" "c.933dup" "r.(?)" "p.(Tyr312Ilefs*2)" "7" "" "0000845330" "00000927" "70" "1099" "0" "1100" "0" "c.1099_1100insTACC" "r.(?)" "p.(Arg367Leufs*52)" "8" "" "0000845331" "00000927" "70" "1520" "0" "1520" "0" "c.1520A>G" "r.(?)" "p.(His507Arg)" "13" "" "0000845332" "00000927" "70" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "6" "" "0000845333" "00000927" "70" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "6" "" "0000845334" "00000927" "70" "126" "0" "126" "0" "c.126C>G" "r.(?)" "p.(Tyr42*)" "3" "" "0000845335" "00000927" "70" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Gln422*)" "10" "" "0000845336" "00000927" "70" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "7" "" "0000845337" "00000927" "70" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "7" "" "0000845338" "00000927" "70" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "6" "" "0000845339" "00000927" "70" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "6" "" "0000845340" "00000927" "70" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "6" "" "0000845341" "00000927" "70" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "6" "" "0000845342" "00000927" "70" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "7" "" "0000845343" "00000927" "70" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "6" "" "0000845344" "00000927" "70" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267*)" "6" "" "0000845345" "00000927" "70" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "7" "" "0000845346" "00000927" "70" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "7" "" "0000845347" "00000927" "70" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "7" "" "0000845348" "00000927" "70" "130" "0" "130" "0" "c.130G>T" "r.(?)" "p.(Gly44*)" "3" "" "0000845349" "00000927" "70" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267*)" "6" "" "0000845350" "00000927" "70" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Gln219*)" "5" "" "0000845351" "00000927" "70" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270*)" "6" "" "0000845352" "00000927" "70" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270*)" "6" "" "0000845353" "00000927" "70" "940" "3" "940" "3" "c.940+3delA" "r.spl?" "p.?" "7i" "" "0000845354" "00000927" "70" "189" "1" "189" "1" "c.189+1G>C" "r.spl?" "p.?" "3i" "" "0000845355" "00000927" "70" "49" "3" "49" "3" "c.49+3delA" "r.spl?" "p.?" "1i" "" "0000845356" "00000927" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "7i" "" "0000845357" "00000927" "70" "1245" "-1" "1245" "-1" "c.1245-1G>A" "r.spl?" "p.?" "9i" "" "0000845358" "00000927" "70" "1245" "-1" "1245" "-1" "c.1245-1G>A" "r.spl?" "p.?" "9i" "" "0000845359" "00000927" "70" "49" "3" "49" "10" "c.49+3_49+10delinsGCTT" "r.spl?" "p.?" "1i" "" "0000845360" "00000927" "70" "116" "1" "116" "1" "c.116+1G>A" "r.spl?" "p.?" "2i" "" "0000845361" "00000927" "70" "49" "2" "49" "2" "c.49+2dupT" "r.spl?" "p.?" "1i" "" "0000845362" "00000927" "70" "819" "1" "819" "1" "c.819+1G>T" "r.spl?" "p.?" "6i" "" "0000845363" "00000927" "70" "940" "2" "940" "2" "c.940+2T>C" "r.spl?" "p.?" "7i" "" "0000856827" "00000927" "90" "1349" "0" "1349" "2" "c.1349_1349+2dup" "r.spl?" "p.?" "" "" "0000856828" "00000927" "70" "1245" "-2" "1245" "-2" "c.1245-2A>C" "r.spl?" "p.?" "" "" "0000867602" "00000927" "30" "1824" "0" "1824" "0" "c.1824A>G" "r.(?)" "p.(Pro608=)" "" "" "0000867603" "00000927" "30" "1802" "0" "1802" "0" "c.1802A>G" "r.(?)" "p.(Asn601Ser)" "" "" "0000867604" "00000927" "90" "819" "1" "819" "6" "c.819+1_819+6del" "r.spl?" "p.?" "" "" "0000873644" "00000927" "70" "1456" "0" "1456" "0" "c.1456dup" "r.(?)" "p.(Ala486Glyfs*6)" "" "" "0000896385" "00000927" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "" "" "0000896596" "00000927" "90" "855" "0" "855" "0" "c.855dupA" "r.(?)" "p.(Gln286ThrfsTer21)" "" "" "0000896608" "00000927" "90" "1584" "0" "1587" "0" "c.1584_1587delTGTT" "r.(?)" "p.(Val529HisfsTer7)" "" "" "0000915772" "00000927" "30" "1581" "0" "1581" "0" "c.1581G>A" "r.(?)" "p.(Leu527=)" "" "" "0000915773" "00000927" "30" "1100" "0" "1100" "0" "c.1100G>A" "r.(?)" "p.(Arg367Gln)" "" "" "0000915774" "00000927" "50" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Arg239Gln)" "" "" "0000915775" "00000927" "30" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Leu80Phe)" "" "" "0000915776" "00000927" "90" "117" "-1" "117" "-1" "c.117-1G>A" "r.spl?" "p.?" "" "" "0000916037" "00000927" "90" "649" "0" "652" "0" "c.649_652del" "r.(?)" "p.(Tyr217Hisfs*14)" "5" "" "0000916571" "00000927" "90" "83" "0" "83" "0" "c.83C>G" "r.(?)" "p.(Ser28*)" "2" "" "0000916744" "00000927" "90" "130" "0" "130" "0" "c.130G>T" "r.(?)" "p.(Gly44*)" "3" "" "0000931471" "00000927" "70" "315" "-1536" "315" "-1536" "c.315-1536A>G" "r.(=)" "p.(=)" "" "" "0000951800" "00000927" "30" "1758" "0" "1758" "0" "c.1758T>C" "r.(?)" "p.(=)" "" "" "0000951801" "00000927" "70" "1609" "1" "1609" "1" "c.1609+1G>A" "r.spl?" "p.?" "" "" "0000951802" "00000927" "90" "1441" "0" "1441" "0" "c.1441G>T" "r.(?)" "p.(Glu481*)" "" "" "0000957954" "00000927" "50" "677" "0" "677" "0" "c.677G>T" "r.(?)" "p.(Arg226Ile)" "" "" "0000958126" "00000927" "90" "116" "1" "116" "1" "c.116+1G>A" "r.spl" "p.?" "" "" "0000958127" "00000927" "90" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548Ter)" "" "" "0000958128" "00000927" "90" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548Ter)" "" "" "0000958129" "00000927" "70" "315" "-4587" "315" "-4587" "c.315-4587T>A" "r.spl" "p.?" "" "" "0000958130" "00000927" "90" "941" "-1" "941" "-1" "c.941-1G>T" "r.spl" "p.?" "" "" "0000958131" "00000927" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Ter)" "" "" "0000958132" "00000927" "70" "703" "-121" "1166" "9561" "c.703-121_1166+9561del" "r.?" "p.?" "" "" "0000958133" "00000927" "90" "262" "0" "263" "0" "c.262_263dup" "r.(?)" "p.(Ser89LeufsTer38)" "" "" "0000958134" "00000927" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "0000958135" "00000927" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "0000958136" "00000927" "90" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Glu177LysfsTer6)" "" "" "0000958137" "00000927" "70" "1370" "0" "1370" "0" "c.1370T>C" "r.(?)" "p.(Leu457Pro)" "" "" "0000958371" "00000927" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Ter)" "" "" "0000958870" "00000927" "50" "1058" "0" "1058" "0" "c.1058A>G" "r.(?)" "p.(Asp353Gly)" "" "" "0000971381" "00000927" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Cys364Valfs*45)" "" "" "0000984884" "00000927" "50" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Glu650Lys)" "" "" "0000984885" "00000927" "30" "1355" "0" "1355" "0" "c.1355T>A" "r.(?)" "p.(Ile452Asn)" "" "" "0001006999" "00000927" "90" "186" "0" "186" "0" "c.186C>G" "r.(?)" "p.(Tyr62*)" "" "" "0001007000" "00000927" "30" "115" "0" "115" "0" "c.115T>G" "r.(?)" "p.(Ser39Ala)" "" "" "0001016062" "00000927" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Ter)" "" "" "0001016063" "00000927" "30" "190" "-5" "190" "-5" "c.190-5T>C" "r.spl?" "p.?" "" "" "0001044534" "00000927" "50" "1797" "0" "1797" "0" "c.1797C>G" "r.(?)" "p.(Cys599Trp)" "" "" "0001044535" "00000927" "30" "314" "7175" "314" "7175" "c.314+7175C>G" "r.(=)" "p.(=)" "" "" "0001049833" "00000927" "70" "117" "-962" "117" "-962" "c.117-962G>C" "r.(116_117ins[117-959_117-845])" "p.?" "" "" "0001057383" "00000927" "50" "38" "0" "38" "0" "c.38T>C" "r.(?)" "p.(Val13Ala)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 986 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003082" "0000000209" "0000007240" "0000000210" "0000009341" "0000000210" "0000011065" "0000000210" "0000011066" "0000165639" "0000369374" "0000165640" "0000369375" "0000165641" "0000369376" "0000167131" "0000377691" "0000167132" "0000377692" "0000167133" "0000377699" "0000167134" "0000377702" "0000167135" "0000377703" "0000167136" "0000377704" "0000167137" "0000377706" "0000167138" "0000377707" "0000167139" "0000377708" "0000167140" "0000377709" "0000167141" "0000377710" "0000167142" "0000377712" "0000167143" "0000377713" "0000167144" "0000377714" "0000167145" "0000377715" "0000167146" "0000377716" "0000167147" "0000377717" "0000167148" "0000377718" "0000167149" "0000377719" "0000167150" "0000377720" "0000167151" "0000377721" "0000167152" "0000377722" "0000167153" "0000377725" "0000167154" "0000377726" "0000167155" "0000377727" "0000167156" "0000377728" "0000167157" "0000377732" "0000167158" "0000377729" "0000167159" "0000377730" "0000167160" "0000377731" "0000167161" "0000377736" "0000167162" "0000377733" "0000167163" "0000377737" "0000167164" "0000377738" "0000167165" "0000377739" "0000167166" "0000377740" "0000167167" "0000377741" "0000167168" "0000377742" "0000167169" "0000377743" "0000167170" "0000377744" "0000167171" "0000377745" "0000167172" "0000377746" "0000167173" "0000377747" "0000167174" "0000377748" "0000167175" "0000377749" "0000167176" "0000377750" "0000167177" "0000377752" "0000167178" "0000377753" "0000167179" "0000377754" "0000167180" "0000377755" "0000167181" "0000377756" "0000167182" "0000377758" "0000167183" "0000377759" "0000167184" "0000377761" "0000167185" "0000377762" "0000167186" "0000377763" "0000167187" "0000377764" "0000167188" "0000377765" "0000167189" "0000377766" "0000167190" "0000377767" "0000167191" "0000377768" "0000167192" "0000377770" "0000167193" "0000377769" "0000167194" "0000377760" "0000167195" "0000377775" "0000167196" "0000377776" "0000167197" "0000377780" "0000167198" "0000377781" "0000167199" "0000377782" "0000167200" "0000377788" "0000167201" "0000377787" "0000167202" "0000377777" "0000167203" "0000377778" "0000167204" "0000377779" "0000167205" "0000377791" "0000167206" "0000377789" "0000167207" "0000377790" "0000167208" "0000377797" "0000167209" "0000377798" "0000167210" "0000377799" "0000167211" "0000377801" "0000167212" "0000377802" "0000167213" "0000377803" "0000167214" "0000377804" "0000167215" "0000377808" "0000167216" "0000377805" "0000167217" "0000377807" "0000167218" "0000377809" "0000167219" "0000377810" "0000167220" "0000377811" "0000167221" "0000377812" "0000167222" "0000377813" "0000167223" "0000377815" "0000167224" "0000377816" "0000167225" "0000377817" "0000167226" "0000377819" "0000167227" "0000377818" "0000167228" "0000377820" "0000167229" "0000377821" "0000167230" "0000377822" "0000167231" "0000377823" "0000167232" "0000377825" "0000167233" "0000377826" "0000167234" "0000377827" "0000167235" "0000377830" "0000167236" "0000377828" "0000167237" "0000377831" "0000167238" "0000377832" "0000167239" "0000377833" "0000167240" "0000377834" "0000167241" "0000377835" "0000167242" "0000377836" "0000167243" "0000377837" "0000167244" "0000377838" "0000167245" "0000377839" "0000167246" "0000377840" "0000167247" "0000377844" "0000167248" "0000377842" "0000167249" "0000377843" "0000167250" "0000377845" "0000167251" "0000377846" "0000167252" "0000377847" "0000167253" "0000377848" "0000167254" "0000377849" "0000167255" "0000377850" "0000167256" "0000377851" "0000167257" "0000377852" "0000167258" "0000377853" "0000167259" "0000377854" "0000167260" "0000377855" "0000167261" "0000377857" "0000167262" "0000377858" "0000167263" "0000377859" "0000167264" "0000377860" "0000167265" "0000377865" "0000167266" "0000377862" "0000167267" "0000377864" "0000167268" "0000377861" "0000167269" "0000377866" "0000167270" "0000377867" "0000167271" 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