### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL4A5) # 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}}" "COL4A5" "collagen, type IV, alpha 5" "X" "q22" "unknown" "NG_011977.1" "UD_134408210777" "" "http://www.LOVD.nl/COL4A5" "LRG_232t1 \r\n\r\nUK Alport genetic testing of COL4A3, COL4A4, COL4A5 " "1" "2207" "1287" "303630" "1" "1" "1" "1" "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/COL4A5_codingDNA.html" "1" "" "Originally variants in the COL4A5 gene were described based on a 53-exon gene. Variants in the database are based on a 55-exon gene, containing two additional exons (42 and 43), both containing 9 nucleotides. We do not exclude that some variant descriptions were not yet corrected" "-1" "" "-1" "00001" "2010-08-31 00:00:00" "00006" "2016-12-18 10:06:42" "00000" "2025-07-08 13:22:38" ## 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}}" "00024106" "COL4A5" "transcript variant 2" "001" "NM_033380.2" "" "NP_203699.1" "" "" "" "-282" "6243" "5076" "107683074" "107940775" "00006" "2016-02-15 04:09:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 18 "{{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" "" "" "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" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22" "00495" "HEMA" "hemophilia A (HEMA)" "XLR" "306700" "" "" "" "00008" "2014-07-28 16:26:50" "00006" "2021-12-10 21:51:32" "01076" "-" "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "" "" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01361" "BFH;TMN" "hematuria, benign, familial" "AD" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-02-15 12:39:15" "01644" "ATS2" "Alport syndrome, type 2, autosomal recessive" "AR" "203780" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-02-15 12:37:44" "01737" "CTNS" "Cystinosis, nephropathic" "AR" "219800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02210" "ATS1" "Alport syndrome, type 1, X-linked" "XLD" "301050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-02-15 12:35:45" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05132" "ATS" "Alport syndrome" "" "" "" "" "" "00006" "2016-02-19 02:06:46" "00006" "2024-02-15 12:57:15" "05396" "FSGS" "glomerulosclerosis, segmental, focal (FSGS)" "" "" "" "" "" "00006" "2018-02-16 17:34:10" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "COL4A5" "01076" "COL4A5" "02210" "COL4A5" "05132" ## Individuals ## Do not remove or alter this header ## ## Count = 2307 "{{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" "" "" "" "" "00080911" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected 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"" "" "European" "" "00092362" "" "" "" "1" "" "00687" "{PMID:Lemmink 1997:9195222}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092363" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092364" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "F" "" "" "" "0" "" "" "" "" "00092365" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "F" "" "Italy" "" "0" "" "" "" "" "00092366" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092367" "" "" "" "1" "" "00687" "{PMID:Nagel 2005:15954103}" "" "" "" "" "" "0" "" "" "" "" "00092368" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092369" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092370" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" 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1996:8738805}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092389" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092390" "" "" "" "1" "" "00687" "{PMID:Renieri 1992:1363780}" "" "M" "" "Italy" "" "0" "" "" "" "" "00092391" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092392" "" "" "" "1" "" "00687" "{PMID:Heiskari 1996:8738805}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092393" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092394" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092395" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "M" "" "Italy" "" "0" "" "" "" "" "00092396" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "M" "" "Spain" "" "0" "" "" "" "" "00092397" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092398" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:7599631}" "" "M" "" "" "" "0" "" "" "" "" "00092399" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "M" "" "Italy" "" "0" "" "" "" "" "00092400" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092401" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092402" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092403" "" "" "" "2" "" "00687" "{PMID:Martin 2000:10862091}" "family 2 patients" "F;M" "" "Finland" "" "0" "" "" "" "" "00092404" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092405" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092406" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092407" "" "" "" "1" "" "00687" "{PMID:Nagel 2005:15954103}" "" "" "" "" "" "0" "" "" "" "" "00092408" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "F" "" "" "" "0" "" "" "" "" "00092409" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092410" "" "" "" "1" "" "00687" "{PMID:Nagel 2005:15954103}" "" "" "" "" "" "0" "" "" "" "" "00092411" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092412" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092413" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "M" "" "Italy" "" "0" "" "" "" "" "00092414" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092415" "" "" "" "1" "" "00687" "{PMID:Tan 2009:19965530}" "" "" "" "" "" "0" "" "" "" "" "00092416" "" "" "" "3" "" "00687" "{PMID:Hertz 2001:11462238} {PMID:Zhou 1992:1352287}" "family 3 patients (F, 2M)" "F;M" "" "Denmark" "" "0" "" "" "" "" "00092417" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092418" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "M" "" "Spain" "" "0" "" "" "" "" "00092419" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092420" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092421" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "F" "" "United States" "" "0" "" "" "" "" "00092422" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092423" "" "" "" "1" "" "00687" "{PMID:Tan 2010:2801648}" "" "M" "" "" "" "0" "" "" "" "" "00092424" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092425" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092426" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092427" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092428" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092429" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092430" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092431" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092432" "" "" "" "1" "" "00687" "{PMID:Lemmink 1997:9195222}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092433" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092434" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092435" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092436" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092437" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "F" "" "United States" "" "0" "" "" "" "" "00092438" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092439" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092440" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092441" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "F" "" "" "" "0" "" "" "" "" "00092442" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:7599631}" "" "M" "" "" "" "0" "" "" "" "" "00092443" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:7599631}" "" "M" "" "" "" "0" "" "" "" "" "00092444" "" "" "" "1" "" 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"00092454" "" "" "" "1" "" "00687" "{PMID:Cheong 2000:10684360}" "" "" "" "Korea" "" "0" "" "" "" "" "00092455" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092456" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092457" "" "" "" "1" "" "00687" "{PMID:Nagel 2005:15954103}" "" "" "" "" "" "0" "" "" "" "" "00092458" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092459" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092460" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092461" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:7599631}" "" "M" "" "" "" "0" "" "" "" "" "00092462" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092463" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092464" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092465" "" "" "" "1" "" "00687" "{PMID:Cruz-Robles 1999:10563487}" "" "M" "" "Mexico" "" "0" "" "" "" "" "00092466" "" "" "" "1" "" "00687" "{PMID:Tan 2010:2801648}" "" "" "" "" "" "0" "" "" "" "" "00092467" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8893151}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092468" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092469" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "M" "" "Italy" "" "0" "" "" "" "" "00092470" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092471" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:7599631}" "" "M" "" "" "" "0" "" "" "" "" "00092472" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "" "" "" "" "0" "" "" "" "" "00092473" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092474" "" "" "" "1" "" "00687" "Nagel (2005)" "" "" "" "" "" "0" "" "" "" "" "00092475" "" "" "" "2" "" "00687" "{PMID:Barker 2001:11223851}" "family 2 patients" "F;M" "" "United States" "" "0" "" "" "" "" "00092476" "" "" "" "1" "" "00687" "{PMID:Cheong 2000:10684360}" "" "" "" "Korea" "" "0" "" "" "" "" "00092477" "" "" "" "1" "" "00687" "{PMID:Tan 2010:2801648}" "" "" "" "" "" "0" "" "" "" "" "00092478" "" "" "" "1" "" "00687" "{PMID:Cheong 2000:10684360}" "" "" "" "Korea" "" "0" "" "" "" "" "00092479" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092480" "" "" "" "1" "" "00687" "{PMID:Nagel 2005:15954103}" "" "" "" "" "" "0" "" "" "" "" "00092481" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092482" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "F" "" "Japan" "" "0" "" "" "" "" "00092483" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092484" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "F" "" "France" "" "0" "" "" "" "" "00092485" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092486" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092487" "" "" "" "2" "" "00687" "{PMID:Martin 1998:9848783} {PMID:Pont-Kingdon 2009:19919694}" "family 2 patients" "M" "" "United States" "" "0" "" "" "European" "" "00092488" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092489" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092490" "" "" "" "1" "" "00687" "{PMID:Martin 2000:10862091}" "" "M" "" "Finland" "" "0" "" "" "" "" "00092491" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092492" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092493" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092494" "" "" "" "1" "" "00687" "{PMID:Nagel 2005:15954103}" "" "" "" "" "" "0" "" "" "" "" "00092495" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092496" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092497" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "F" "" "United States" "" "0" "" "" "" "" "00092498" "" "" "" "3" "" "00687" "{PMID:Hertz 2001:11462238}" "family 3 patients (F, 2M)" "F;M" "" "Denmark" "" "0" "" "" "" "" "00092499" "" "" "" "1" "" "00687" "{PMID:Nagel 2005:15954103}" "" "" "" "" "" "0" "" "" "" "" "00092500" "" "" "" "1" "" "00687" "{PMID:Martin 2000:10862091}" "" "F" "" "Finland" "" "0" "" "" "" "" "00092501" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092502" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092503" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092504" "" "" "" "2" "" "00687" "{PMID:Renieri 1994:7969679}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092505" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092506" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092507" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092508" "" "" "" "2" "" "00687" "{PMID:Martin 2000:10862091}" "family 2 patients" "F;M" "" "Finland" "" "0" "" "" "" "" "00092509" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "F" "" "Japan" "" "0" "" "" "" "" "00092510" "" "" "" "1" "" "00687" "{PMID:Nagel 2005:15954103}" "" "" "" "" "" "0" "" "" "" "" "00092511" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092512" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092513" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092514" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092515" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092516" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092517" "" "" "" "1" "" "00687" "{PMID:Nagel 2005:15954103}" "" "" "" "" "" "0" "" "" "" "" "00092518" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092519" "" "" "" "1" "" "00687" "{PMID:Nagel 2005:15954103}" "" "" "" "" "" "0" "" "" "" "" "00092520" "" "" "" "1" "" "00687" "{PMID:Cheong 2000:10684360}" "" "" "" "Korea" "" "0" "" "" "" "" "00092521" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:7599631}" "" "F" "" "" "" "0" "" "" "" "" "00092522" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "F" "" "United States" "" "0" "" "" "" "" "00092523" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092524" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092525" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092526" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092527" "" "" "" "1" "" "00687" "{PMID:Cheong 2000:10684360}" "" "" "" "Korea" "" "0" "" "" "" "" "00092528" "" "" "" "1" "" "00687" "{PMID:Minucci 2007:18350645}" "" "" "" "" "" "0" "" "" "" "" "00092529" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092530" "" "" "" "1" "" "00687" "{PMID:Tan 2010:2801648}" "" "" "" "" "" "0" "" "" "" "" "00092531" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092532" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "F" "" "Italy" "" "0" "" "" "" "" "00092533" "" "" "" "1" "" "00687" "{PMID:Tan 2010:2801648}" "" "" "" "" "" "0" "" "" "" "" "00092534" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092535" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "M" "" "Italy" "" "0" "" "" "" "" "00092536" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "M" "" "Italy" "" "0" "" "" "" "" "00092537" "" "" "" "1" "" "00687" "{PMID:Zhang 2008:18373399}" "" "" "" "" "" "0" "" "" "" "" "00092538" "" "" "" "1" "" "00687" "{PMID:Nagel 2005:15954103}" "" "" "" "" "" "0" "" "" "" "" "00092539" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "F" "" "" "" "0" "" "" "" "" "00092540" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092541" "" "" "" "1" "" "00687" "{PMID:Lemmink 1997:9195222}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092542" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092543" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092544" "" "" "" "1" "" "00687" "{PMID:Tverskaya 1996:8829632}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092545" "" "" "" "1" "" "00687" "{PMID:Cheong 2000:10684360}" "" "" "" "Korea" "" "0" "" "" "" "" "00092546" "" "" "" "2" "" "00687" "{PMID:Lemmink 1993:8406498}" "2-generation family, affected mother and daugther" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092547" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092548" "" "" "" "1" "" "00687" "{PMID:Lemmink 1993:8406498}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092549" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092550" "" "" "" "1" "" "00687" "{PMID:Lemmink 1997:9195222}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092551" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092552" "" "" "" "1" "" "00687" "Zhou (1991) Genomics 9, 10" "" "" "" "United States" "" "0" "" "" "" "" "00092553" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092554" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092555" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092556" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092557" "" "" "" "2" "" "00687" "{PMID:Plant 1999:10094548}" "family 2 patients" "F;M" "" "Japan" "" "0" "" "" "" "" "00092558" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092559" "" "" "" "9" "" "00687" "{PMID:Barker 1996:11223851}, {OMIM303630:0014}" "9 families" "M" "" "United States" "" "0" "" "" "" "" "00092560" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092561" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092562" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092563" "" "" "" "3" "" "00687" "{PMID:Barker 1997:11223851}, {OMIM303630:0015}" "3 families" "M" "" "United States" "" "0" "" "" "" "" "00092564" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "F" "" "Japan" "" "0" "" "" "" "" "00092565" "" "" "" "1" "" "00687" "{PMID:Nakazato 1994:7853788}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092566" "" "" "" "2" "" "00687" "{PMID:King 2002:12436246}" "3-generation family, 2 affected (2M), 2 unaffected heterozygous carrier females" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2" "00092567" "" "" "" "1" "" "00687" "{PMID:Heiskari 1996:8738805}" "" "M" "" "" "" "0" "" "" "European" "" "00092568" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092569" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092570" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092571" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092572" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "F" "" "Japan" "" "0" "" "" "" "" "00092573" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092574" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092575" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092576" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092577" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092578" "" "" "" "1" "" "00687" "{PMID:Wang 2002:12478350}" "" "F" "" "China" "" "0" "" "" "" "" "00092579" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092580" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092581" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092582" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092583" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092584" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092585" "" "" "" "4" "" "00687" "{PMID:Hertz 2001:11462238}" "family 4 patients (2F, 2M)" "F;M" "" "Denmark" "" "0" "" "" "" "" "00092586" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092587" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:7599631}" "" "M" "" "" "" "0" "" "" "" "" "00092588" "" "" "" "1" "" "00687" "{PMID:Heiskari 1996:8738805}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092589" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092590" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092591" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092592" "" "" "" "1" "" "00687" "{PMID:Heiskari 1996:8738805}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092593" "" "" "" "1" "" "00687" "{PMID:Heiskari 1996:8738805}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092594" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092595" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092596" "" "" "" "1" "" "00687" "{PMID:Lemmink 1997:9195222}" "" "" "" "" "" "0" "" "" "" "" "00092597" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092598" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092599" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "F" "" "Italy" "" "0" "" "" "" "" "00092600" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092601" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "F" "" "United States" "" "0" "" "" "European" "" "00092602" "" "" "" "1" "" "00687" "Cheong (2000) Pediatr Nephrol 14, 117" "" "" "" "Korea" "" "0" "" "" "" "" "00092603" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092604" "" "" "" "1" "" "00687" "{PMID:King 2002:12436246}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1" "00092605" "" "" "" "1" "" "00687" "King (2002) Hum Genet 111, 548" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092606" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092607" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092608" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092609" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "F" "" "United States" "" "0" "" "" "" "" "00092610" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092611" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238} {PMID:Martin 1998:9848783}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092612" "" "" "" "1" "" "00687" "{PMID:Martin 2000:10862091}" "" "M" "" "Finland" "" "0" "" "" "" "" "00092613" "" "" "" "1" "" "00687" "Netzer (1993) Kidney Int 43, 486" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092614" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238} {PMID:Martin 1998:9848783}" "family 2 patients" "F;M" "" "Denmark" "" "0" "" "" "" "" "00092615" "" "" "" "4" "" "00687" "{PMID:Martin 2000:10862091}" "family 4 patients (2F, 2M)" "F;M" "" "Finland" "" "0" "" "" "" "" "00092616" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "F" "" "France" "" "0" "" "" "" "" "00092617" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092618" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092619" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092620" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092621" "" "" "" "3" "" "00687" "{PMID:Lemmink 1993:8406498}" "2-generation family, affected son, mother and aunt" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092622" "" "" "" "1" "" "00687" "{PMID:Cruz-Robles 1999:10563487}" "" "F" "" "Mexico" "" "0" "" "" "" "" "00092623" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092624" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092625" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092626" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092627" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092628" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092629" "" "" "" "1" "" "00687" "Nakazato (1995) Am J Kidney Dis 26, 732" "" "M" "" "Japan" "" "0" "" "" "" "" "00092630" "" "" "" "1" "" "00687" "{PMID:Heiskari 1996:8738805}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092631" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "F" "" "Italy" "" "0" "" "" "" "" "00092632" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092633" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "M" "" "Italy" "" "0" "" "" "" "" "00092634" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238} {PMID:Martin 1998:9848783}" "family 2 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092635" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092636" "" "" "" "1" "" "00687" "{PMID:Wang 2002:12478350}, {PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00092637" "" "" "" "1" "" "00687" "{PMID:Martin 2000:10862091}" "" "M" "" "Finland" "" "0" "" "" "" "" "00092638" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "F" "" "Italy" "" "0" "" "" "" "" "00092639" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092640" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092641" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296} Hamalainen 1996" "" "F" "" "Italy" "" "0" "" "" "" "" "00092642" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092643" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "F" "" "United States" "" "0" "" "" "" "" "00092644" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092645" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092646" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092647" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092648" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092649" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092650" "" "" "" "1" "" "00687" "{PMID:Heiskari 1996:8738805}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092651" "" "" "" "1" "" "00687" "{PMID:Heiskari 1996:8738805}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092652" "" "" "" "1" "" "00687" "{PMID:Wang 2002:12478350}" "" "M" "" "China" "" "0" "" "" "" "" "00092653" "" "" "" "1" "" "00687" "{PMID:Cheong 2000:10684360}" "" "" "" "Korea" "" "0" "" "" "" "" "00092654" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092655" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092656" "" "" "" "1" "" "00687" "{PMID:Wang 2002:12478350}" "" "M" "" "China" "" "0" "" "" "" "" "00092657" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:7599631}" "" "M" "" "" "" "0" "" "" "" "" "00092658" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092659" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092660" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "F" "" "Italy" "" "0" "" "" "" "" "00092661" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092662" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092663" "" "" "" "1" "" "00687" "Wang (2002) Pediatr Nephrol 17, 1013" "" "M" "" "China" "" "0" "" "" "" "" "00092664" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "F" "" "Italy" "" "0" "" "" "" "" "00092665" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092666" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092667" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:7599631}" "" "M" "" "" "" "0" "" "" "" "" "00092668" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092669" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "F" "" "" "" "0" "" "" "" "" "00092670" "" "" "" "2" "" "00687" "Peissel (1994) Hum Mutat 3, 386" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092671" "" "" "" "1" "" "00687" "{PMID:Lemmink 1997:9195222}" "" "" "" "" "" "0" "" "" "" "" "00092672" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092673" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "F" "" "Italy" "" "0" "" "" "" "" "00092674" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092675" "" "" "" "2" "" "00687" "Renieri (1994) Hum Mol Genet 3, 201" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092676" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092677" "" "" "" "2" "" "00687" "{PMID:Renieri 1993:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092678" "" "" "" "1" "" "00687" "{PMID:Lemmink 1994:8004101}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092679" "" "" "" "2" "" "00687" "{PMID:Renieri 1993:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092680" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092681" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092682" "" "" "" "2" "" "00687" "Renieri (1994) Hum Mol Genet 3, 201" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092683" "" "" "" "2" "" "00687" "Guo (1993) Kidney Int 44, 1316" "family 2 patients" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092684" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092685" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092686" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092687" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092688" "" "" "" "3" "" "00687" "{PMID:Hertz 2001:11462238} Hertz 1995" "family 3 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092689" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092690" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092691" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092692" "" "" "" "2" "" "00687" "{PMID:Renieri 1993:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092693" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "F" "" "Japan" "" "0" "" "" "" "" "00092694" "" "" "" "1" "" "00687" "Boye (1993) Hum Mol Genet 2, 595" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092695" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092696" "" "" "" "4" "" "00687" "{PMID:Martin 2000:10862091}" "family 4 patients (3F, M)" "F;M" "" "Finland" "" "0" "" "" "" "" "00092697" "" "" "" "1" "" "00687" "{PMID:Heiskari 1996:8738805}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092698" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092699" "" "" "" "1" "" "00687" "{PMID:Heiskari 1996:8738805} {PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092700" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092701" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092702" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092703" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092704" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092705" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "F;M" "" "Denmark" "" "0" "" "" "" "" "00092706" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "M" "" "Italy" "" "0" "" "" "" "" "00092707" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092708" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092709" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296} Massella 1994" "" "F" "" "Italy" "" "0" "" "" "" "" "00092710" "" "" "" "1" "" "00687" "{PMID:Ermisch 2000:10955921}" "" "M" "" "Lebanon" "" "0" "" "" "" "" "00092711" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092712" "" "" "" "1" "" "00687" "{PMID:Nakazato 1993:8264140}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092713" "" "" "" "1" "" "00687" "{PMID:Nakazato 1994:7853788}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092714" "" "" "" "6" "" "00687" "{PMID:Lemmink 1993:8406498}" "3-generation family, 3 affected males, 3 carrier females" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092716" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092717" "" "" "" "3" "" "00687" "{PMID:Hertz 2001:11462238}" "family 3 patients (F, 2M)" "F;M" "" "Denmark" "" "0" "" "" "" "" "00092718" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "F" "" "" "" "0" "" "" "" "" "00092719" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092720" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "F;M" "" "Denmark" "" "0" "" "" "" "" "00092721" "" "" "" "1" "" "00687" "Thielen (2003) Hum Mutat Online, #662" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092722" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "China" "" "0" "" "" "" "" "00092723" "" "" "" "1" "" "00687" "{PMID:Thielen 2003:14517961}" "AS & DL" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092724" "" "" "" "1" "" "00687" "{PMID:Thielen 2003:14517961}" "AS & DL" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092725" "" "" "" "7" "" "00687" "{PMID:Mothes 2002:11773466}" "4-generation family, 7 affecteds" "F;M" "" "" "" "0" "" "" "white" "" "00092726" "" "" "" "3" "" "00687" "{PMID:Smeets 1992:1635357}" "affected carrier mother/sister" "M" "" "Netherlands" "" "0" "" "" "" "" "00092727" "" "" "" "1" "" "00687" "{PMID:Vetrie 1992:1330889}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092728" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092729" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092730" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092731" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092732" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092733" "" "" "" "1" "" "00687" "{PMID:Ding 1994:7993995}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092734" "" "" "" "2" "" "00687" "{PMID:Ding 1994:7993995}" "family 2 patients" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092735" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092736" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092737" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092738" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092739" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092740" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092741" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092742" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092743" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "" "" "00092744" "" "" "" "1" "" "00687" "{PMID:Barker 1990:2349482}" "" "M" "" "United States" "" "0" "" "" "" "" "00092745" "" "" "" "1" "" "00687" "Cheong (2000) Pediatr Nephrol 14, 117, Saito 1994" "" "" "" "Korea" "" "0" "" "" "" "" "00092746" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092747" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092748" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092749" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092750" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092751" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092752" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092753" "" "" "" "1" "" "00687" "{PMID:Cheong 2000:10684360}" "" "" "" "Korea" "" "0" "" "" "" "" "00092754" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092755" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092756" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "" "" "United States" "" "0" "" "" "" "" "00092757" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "" "" "United States" "" "0" "" "" "" "" "00092758" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "" "" "Japan" "" "0" "" "" "" "" "00092759" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092760" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "" "" "Japan" "" "0" "" "" "" "" "00092761" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "" "" "Japan" "" "0" "" "" "" "" "00092762" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092763" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092764" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092765" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "" "" "(Denmark);(United States)" "" "0" "" "" "" "" "00092766" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "" "" "United States" "" "0" "" "" "" "" "00092767" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "" "" "United States" "" "0" "" "" "" "" "00092768" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "" "" "United States" "" "0" "" "" "" "" "00092771" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "" "" "Italy" "" "0" "" "" "" "" "00092772" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "" "" "" "" "0" "" "" "" "" "00092773" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1992:1376965}, {OMIM303630:0007}" "" "" "" "" "" "0" "" "" "" "" "00092774" "" "" "" "1" "" "00687" "{PMID:Heiskari 1996:8738805} {PMID:Martin 2000:10862091}" "" "" "" "" "" "0" "" "" "" "" "00092775" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "" "" "0" "" "" "" "" "00092777" "" "" "" "1" "" "00687" "{PMID:Tan 2010:2801648}" "" "" "" "" "" "0" "" "" "" "" "00092779" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:7599631}" "" "M" "" "" "" "0" "" "" "" "" "00092781" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "" "" "" "" "0" "" "" "" "" "00092783" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "" "" "" "" "0" "" "" "" "" "00092784" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092785" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092786" "" "" "" "2" "" "00687" "{PMID:Hertz 2001:11462238}" "family 2 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092787" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "" "" "" "" "0" "" "" "" "" "00092788" "" "" "" "1" "" "00687" "{PMID:Tan 2010:2801648}" "" "" "" "" "" "0" "" "" "" "" "00092789" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "" "" "" "" "0" "" "" "" "" "00092794" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "M" "" "Italy" "" "0" "" "" "" "" "00092796" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "" "" "0" "" "" "" "" "00092797" "" "" "" "2" "" "00687" "{PMID:Martin 1998:9848783}" "2 families" "" "" "" "" "0" "" "" "" "" "00092798" "" "" "" "5" "" "00687" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:7599631}" "5 families" "" "" "" "" "0" "" "" "" "" "00092799" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092801" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "" "" "" "" "0" "" "" "" "" "00092802" "" "" "" "1" "" "00687" "{PMID:Tan 2010:2801648}" "" "" "" "" "" "0" "" "" "" "" "00092803" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "" "" "" "" "0" "" "" "" "" "00092804" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "" "" "" "" "0" "" "" "" "" "00092805" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "" "" "" "" "0" "" "" "" "" "00092806" "" "" "" "1" "" "00687" "{PMID:Zhou 1992:1352287}, {OMIM303630:0006}" "" "" "" "" "" "0" "" "" "" "" "00092808" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "" "" "" "" "0" "" "" "" "" "00092809" "" "" "" "1" "" "00687" "Tan (2009), jasavige@unimelb.edu.au" "" "" "" "" "" "0" "" "" "" "" "00092810" "" "" "" "3" "" "00687" "{PMID:Smeets 1992:1635357}" "affected carrier mother/brother" "" "" "" "" "0" "" "" "" "" "00092811" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "" "" "" "" "0" "" "" "" "" "00092812" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "France" "" "0" "" "" "" "" "00092813" "" "" "" "1" "" "00687" "{PMID:Zhou 1993:8455372}" "" "M" "" "United States" "" "0" "" "" "European" "" "00092814" "" "" "" "1" "" "00687" "Lemmink (1993) Genomics 17, 485; Lemmink (1994) Hum Mol Genet 3, 317;, Smeets 1992" "" "M" "" "" "" "0" "" "" "" "" "00092815" "" "" "" "1" "" "00687" "{PMID:Zhou 1993:8455372}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092816" "" "" "" "1" "" "00687" "Pont-Kingdon (2009) BMC Nephrol 10, 38" "" "M" "" "United States" "" "0" "" "" "European" "" "00092817" "" "" "" "1" "" "00687" "Boye 1995" "" "" "" "" "" "0" "" "" "" "" "00092818" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "" "" "" "" "0" "" "" "" "" "00092819" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "" "" "" "" "0" "" "" "" "" "00092820" "" "" "" "3" "" "00687" "{PMID:Barker 2001:11223851}" "3 families" "" "" "" "" "0" "" "" "" "" "00092821" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092822" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "" "" "" "" "0" "" "" "" "" "00092823" "" "" "" "2" "" "00687" "{PMID:Martin 1998:9848783}" "2 families" "" "" "" "" "0" "" "" "" "" "00092824" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "" "" "" "" "0" "" "" "" "" "00092825" "" "" "" "1" "" "00687" "{PMID:Heiskari 1996:8738805}" "" "M" "" "United States" "" "0" "" "" "" "" "00092827" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "" "" "" "" "0" "" "" "" "" "00092830" "" "" "" "3" "" "00687" "{PMID:Hertz 2001:11462238}" "family 3 patients" "M" "" "Denmark" "" "0" "" "" "" "" "00092831" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "" "" "" "" "0" "" "" "" "" "00092832" "" "" "" "1" "" "00687" "{PMID:Martin 2000:10862091}" "" "" "" "" "" "0" "" "" "" "" "00092833" "" "" "" "1" "" "00687" "Nakazato (1995) Am J Kidney Dis 26, 732" "" "" "" "" "" "0" "" "" "" "" "00092834" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "" "" "" "" "0" "" "" "" "" "00092835" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092838" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "" "" "" "" "0" "" "" "" "" "00092839" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "" "" "" "" "0" "" "" "" "" "00092842" "" "" "" "1" "" "00687" "Tan (2009), jasavige@unimelb.edu.au" "" "" "" "" "" "0" "" "" "" "" "00092844" "" "" "" "1" "" "00687" "Kitagawa 1995" "" "" "" "" "" "0" "" "" "" "" "00092845" "" "" "" "1" "" "00687" "Boye 1995" "" "" "" "" "" "0" "" "" "" "" "00092846" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "" "" "" "" "0" "" "" "" "" "00092848" "" "" "" "1" "" "00687" "{PMID:Martin 1998:9848783}" "" "" "" "" "" "0" "" "" "" "" "00092850" "" "" "" "1" "" "00687" "{PMID:Wang 2002:12478350}" "" "" "" "China" "" "0" "" "" "" "" "00092851" "" "" "" "3" "" "00687" "{PMID:Antignac 1992:1453602}" "" "" "" "" "" "0" "" "" "" "" "00092852" "" "" "" "1" "" "00687" "{PMID:Renieri 1994:7833948}" "" "M" "" "Italy" "" "0" "" "" "" "" "00092853" "" "" "" "1" "" "00687" "Boye 1995" "" "" "" "" "" "0" "" "" "" "" "00092854" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092855" "" "" "" "1" "" "00687" "Vetrie (1992) Genomics 14, 624" "" "" "" "" "" "0" "" "" "" "" "00092856" "" "" "" "1" "" "00687" "Saito 1994" "" "" "" "" "" "0" "" "" "" "" "00092857" "" "" "" "1" "" "00687" "{PMID:Boye 1991:1783380}" "" "" "" "" "" "0" "" "" "" "" "00092858" "" "" "" "1" "" "00687" "Vetrie 1992" "" "" "" "" "" "0" "" "" "" "" "00092859" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "" "" "" "" "0" "" "" "" "" "00092860" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "" "" "" "" "0" "" "" "" "" "00092861" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "" "" "" "" "0" "" "" "" "" "00092862" "" "" "" "5" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "" "" "0" "" "" "" "" "00092863" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "" "" "0" "" "" "" "" "00092864" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "" "" "" "" "0" "" "" "" "" "00092865" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "" "" "" "" "0" "" "" "" "" "00092866" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "" "" "0" "" "" "" "" "00092867" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "" "" "0" "" "" "" "" "00092868" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "" "" "" "" "0" "" "" "" "" "00092869" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "" "" "" "" "0" "" "" "" "" "00092870" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "" "" "" "" "0" "" "" "" "" "00092871" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "" "" "" "" "0" "" "" "" "" "00092872" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "" "" "" "" "0" "" "" "" "" "00092873" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "" "" "0" "" "" "" "" "00092874" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "" "" "" "" "0" "" "" "" "" "00092875" "" "" "" "1" "" "00687" "{PMID:Inoue 1999:10561141}" "" "" "" "" "" "0" "" "" "" "" "00092876" "" "" "" "1" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "" "" "0" "" "" "" "" "00092877" "" "" "" "1" "" "00687" "Martin 1998" "" "" "" "" "" "0" "" "" "" "" "00092878" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "" "" "" "" "0" "" "" "" "" "00092879" "" "" "" "1" "" "00687" "{PMID:Zhou 1992:1352287}, {OMIM303630:0006}" "" "" "" "" "" "0" "" "" "" "" "00092880" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "" "" "0" "" "" "" "" "00092881" "" "" "" "2" "" "00687" "{PMID:Renieri 1996:8651296}" "family 2 patients" "F;M" "" "Italy" "" "0" "" "" "" "" "00092882" "" "" "" "2" "" "00687" "{PMID:Plant 1999:10094548}" "family 2 patients" "M" "" "" "" "0" "" "" "" "" "00092883" "" "" "" "1" "" "00687" "{PMID:Pan 2004:14993485}" "" "F" "" "China" "" "0" "" "" "" "" "00092884" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "F" "" "Slovenia" "" "0" "" "" "" "" "00092885" "" "" "" "1" "" "00687" "{PMID:King 2006:16941480}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092886" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "F" "" "Slovenia" "" "0" "" "" "" "" "00092887" "" "" "" "1" "" "00687" "{PMID:King 2006:16941480}" "" "M" "" "" "" "0" "" "" "" "" "00092888" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "F" "" "Slovenia" "" "0" "" "" "" "" "00092889" "" "" "" "1" "" "00687" "{PMID:King 2006:16941480}" "" "M" "" "" "" "0" "" "" "" "" "00092890" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "F" "" "Slovenia" "" "0" "" "" "" "" "00092891" "" "" "" "1" "" "00687" "{PMID:King 2006:16941480}" "" "M" "" "" "" "0" "" "" "" "" "00092892" "" "" "" "1" "" "00687" "{PMID:King 2006:16941480}" "" "M" "" "" "" "0" "" "" "" "" "00092893" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "China" "" "0" "" "" "" "" "00092894" "" "" "" "1" "" "00687" "{PMID:Barker 2001:11223851}" "" "M" "" "United States" "" "0" "" "" "American" "" "00092895" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00092896" "" "" "" "1" "" "00687" "{PMID:Kaneko 2010:19937058}" "" "F" "" "Japan" "" "0" "" "" "" "" "00092897" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "F" "" "China" "" "0" "" "" "" "" "00092898" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00092899" "" "" "" "1" "" "00687" "{PMID:Pan 2004:14993485}" "" "M" "" "China" "" "0" "" "" "" "" "00092900" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00092901" "" "" "" "1" "" "00687" "HoPker (2009) Clinical Nephrology 71, 321" "" "F" "" "" "" "0" "" "" "" "" "00092902" "" "" "" "1" "" "00687" "{PMID:King 2006:16941480}" "" "M" "" "" "" "0" "" "" "" "" "00092903" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00092904" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092905" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092906" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092907" "" "" "" "1" "" "00687" "{PMID:Kawai 1996:8648925}" "" "M" "" "Japan" "" "0" "" "" "" "" "00092908" "" "" "" "23" "" "00687" "{PMID:Blasi 2000:11004279}" "" "" "" "" "" "0" "" "" "" "" "00092909" "" "" "" "1" "" "00687" "{PMID:Gross 2002:12105244}" "" "" "" "Germany" "" "0" "" "" "" "" "00092910" "" "" "" "1" "" "00687" "{PMID:Gross 2002:12105244}" "" "" "" "Germany" "" "0" "" "" "" "" "00092911" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092912" "" "" "" "1" "" "00687" "{PMID:Tan 2010:2801648}" "" "" "" "" "" "0" "" "" "" "" "00092913" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00092914" "" "" "" "1" "" "00687" "{PMID:Neri 2005:16521290}" "" "" "" "" "" "0" "" "" "" "" "00092915" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "" "" "0" "" "" "" "" "00092916" "" "" "" "3" "" "00687" "{PMID:Pont-Kingdon 2009:19919694}" "family 3 patients (F, 2M)" "F;M" "" "" "" "0" "" "" "" "" "00092917" "" "" "" "8" "" "00687" "{PMID:Pont-Kingdon 2009:19919694}" "6M / 2F" "F;M" "" "" "" "0" "" "" "" "" "00092918" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "" "" "0" "" "" "" "" "00092919" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00092920" "" "" "" "1" "" "00687" "{PMID:Hertz 2008:18616531}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00092921" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00092922" "" "" "" "1" "" "00687" "{PMID:Pont-Kingdon 2009:19919694}" "" "" "" "" "" "0" "" "" "" "" "00092923" "" "" "" "8" "" "00687" "{PMID:Pont-Kingdon 2009:19919694}" "5M / 3F" "F;M" "" "" "" "0" "" "" "" "" "00092924" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "M" "" "Slovenia" "" "0" "" "" "" "" "00092925" "" "" "" "1" "" "00687" "{PMID:Pan 2004:14993485}" "" "M" "" "China" "" "0" "" "" "" "" "00092926" "" "" "" "1" "" "00687" "Tan (2008)" "" "" "" "" "" "0" "" "" "" "" "00092927" "" "" "" "1" "" "00687" "{PMID:Pan 2004:14993485}" "" "" "" "" "" "0" "" "" "" "" "00092928" "" "" "" "1" "" "00687" "Wang (2009)" "" "" "" "" "" "0" "" "" "" "" "00092929" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00092930" "" "" "" "1" "" "00687" "{PMID:Pan 2004:14993485}" "" "" "" "" "" "0" "" "" "" "" "00092931" "" "" "" "1" "" "00687" "Tan (2008)" "" "" "" "" "" "0" "" "" "" "" "00092932" "" "" "" "5" "" "00687" "{PMID:Knebelmann 1996:8940267}" "" "" "" "" "" "0" "" "" "" "" "00092933" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00092934" "" "" "" "1" "" "00687" "Tan (2008)" "" "" "" "" "" "0" "" "" "" "" "00092935" "" "" "" "1" "" "00687" "{PMID:Pan 2004:14993485}" "" "" "" "" "" "0" "" "" "" "" "00092936" "" "" "" "1" "" "00687" "{PMID:Pan 2004:14993485}" "" "" "" "" "" "0" "" "" "" "" "00092937" "" "" "" "1" "" "00687" "Tan (2008)" "" "" "" "" "" "0" "" "" "" "" "00092938" "" "" "" "1" "" "00687" "Tan (2008)" "" "" "" "" "" "0" "" "" "" "" "00092939" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00092940" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00092941" "" "" "" "1" "" "00687" "{PMID:Gross 2002:12105244}" "" "" "" "Germany" "" "0" "" "" "" "" "00092942" "" "" "" "1" "" "00687" "{PMID:Gross 2002:12105244}" "" "" "" "" "" "0" "" "" "" "" "00092943" "" "" "" "1" "" "00687" "Pan (2004) Nephrol Dial Transplant 19, 1123" "" "F" "" "" "" "0" "" "" "" "" "00092944" "" "" "" "1" "" "00687" "{PMID:Wang 2002:12478350}" "" "F" "" "China" "" "0" "" "" "" "" "00092945" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat 26, 60" "" "" "" "" "" "0" "" "" "" "" "00092946" "" "" "" "1" "" "00687" "Tan (2009) jasavige@unimelb.edu.au" "" "" "" "" "" "0" "" "" "" "" "00092947" "" "" "" "1" "" "00687" "Tan et al, (2008)" "" "" "" "" "" "0" "" "" "" "" "00092948" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat 26, 60" "" "" "" "" "" "0" "" "" "" "" "00092949" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00092950" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "M" "" "Spain" "" "0" "" "" "" "" "00092951" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "F" "" "Spain" "" "0" "" "" "" "" "00092952" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00092953" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat 26, 60" "" "" "" "" "" "0" "" "" "" "" "00092954" "" "" "" "1" "" "00687" "Pan (2004) Nephrol Dial Transplant 19, 1123" "" "" "" "China" "" "0" "" "" "" "" "00092955" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00092956" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "F" "" "China" "" "0" "" "" "" "" "00092957" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00092958" "" "" "" "19" "" "00687" "Pont-Kingdon (2009) BMC Nephrol 10, 38" "7M / 12F" "F;M" "" "" "" "0" "" "" "" "" "00092959" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00092960" "" "" "" "1" "" "00687" "Tang(2008) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25, 649" "" "" "" "China" "" "0" "" "" "" "" "00092961" "" "" "" "1" "" "00687" "King(2006) Hum Mutat 26, 1061" "" "M" "" "" "" "0" "" "" "" "" "00092962" "" "" "" "1" "" "00687" "Pan (2004) Nephrol Dial Transplant 19, 1123" "" "M" "" "China" "" "0" "" "" "" "" "00092963" "" "" "" "1" "" "00687" "Savige (2008) Hum Mut 124, 293" "" "F" "" "" "" "0" "" "" "" "" "00092964" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat 26, 60" "" "" "" "" "" "0" "" "" "" "" "00092965" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat 26, 60" "" "" "" "" "" "0" "" "" "" "" "00092966" "" "" "" "1" "" "00687" "King(2006) Hum Mutat 26, 1061" "" "M" "" "" "" "0" "" "" "" "" "00092967" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "F" "" "Spain" "" "0" "" "" "" "" "00092968" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat 26, 60" "" "" "" "" "" "0" "" "" "" "" "00092969" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat 26, 60" "" "" "" "" "" "0" "" "" "" "" "00092970" "" "" "" "1" "" "00687" "Tan (2009) jasavige@unimelb.edu.au" "" "" "" "" "" "0" "" "" "" "" "00092971" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat 26, 60" "" "" "" "" "" "0" "" "" "" "" "00092972" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat 26, 60" "" "" "" "" "" "0" "" "" "" "" "00092973" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "M" "" "Spain" "" "0" "" "" "" "" "00092974" "" "" "" "1" "" "00687" "Krol (2008) Nephrol Dial Transplant 23, 2525" "" "M" "" "" "" "0" "" "" "" "" "00092975" "" "" "" "1" "" "00687" "{PMID:Gross 2002:12105244}" "" "" "" "Germany" "" "0" "" "" "" "" "00092976" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "F" "" "China" "" "0" "" "" "" "" "00092977" "" "" "" "1" "" "00687" "Tan (2009) jasavige@unimelb.edu.au" "" "" "" "" "" "0" "" "" "" "" "00092978" "" "" "" "1" "" "00687" "Shimizu (2006) Neprol Dial Transplant 21, 1582" "" "F" "" "Japan" "" "0" "" "" "" "" "00092979" "" "" "" "1" "" "00687" "Shimizu (2006) Neprol Dial Transplant 21, 1582" "" "F" "" "Japan" "" "0" "" "" "" "" "00092980" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00092981" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00092983" "" "" "" "1" "" "00687" "{PMID:Pont-Kingdon 2009:19919694}" "" "" "" "" "" "0" "" "" "" "" "00092984" "" "" "" "1" "" "00687" "{PMID:Pont-Kingdon 2009:19919694}" "" "" "" "" "" "0" "" "" "" "" "00092985" "" "" "" "1" "" "00687" "{PMID:Tan 2010:2801648}" "" "" "" "" "" "0" "" "" "" "" "00092986" "" "" "" "1" "" "00687" "{PMID:Pont-Kingdon 2009:19919694}" "" "" "" "" "" "0" "" "" "" "" "00092988" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "" "" "0" "" "" "" "" "00092989" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "M" "" "Spain" "" "0" "" "" "" "" "00092990" "" "" "" "23" "" "00687" "{PMID:Pont-Kingdon 2009:19919694}" "7 M / 16 F" "F;M" "" "" "" "0" "" "" "" "" "00092991" "" "" "" "1" "" "00687" "Hertz (2001) Hum Mutat 18, 141" "" "" "" "Germany" "" "0" "" "" "" "" "00092992" "" "" "" "1" "" "00687" "{PMID:Gross 2002:12105244}" "" "" "" "" "" "0" "" "" "" "" "00092993" "" "" "" "2" "" "00687" "Ars (2005) European J of Hum Genetics 13, 1040" "family 2 patients" "M" "" "Spain" "" "0" "" "" "" "" "00092994" "" "" "" "18" "" "00687" "{PMID:Pont-Kingdon 2009:19919694}" "9 M / 9 F" "F;M" "" "" "" "0" "" "" "" "" "00092995" "" "" "" "1" "" "00687" "{PMID:Tan 2010:2801648}" "" "" "" "" "" "0" "" "" "" "" "00092996" "" "" "" "15" "" "00687" "{PMID:Pont-Kingdon 2009:19919694}" "6 M / 9 F" "F;M" "" "" "" "0" "" "" "" "" "00092997" "" "" "" "1" "" "00687" "{PMID:King 2006:16941480}" "" "M" "" "" "" "0" "" "" "" "" "00092998" "" "" "" "1" "" "00687" "{PMID:King 2006:16941480}" "" "M" "" "" "" "0" "" "" "" "" "00092999" "" "" "" "1" "" "00687" "{PMID:Gross 2002:12105244}" "" "" "" "" "" "0" "" "" "" "" "00093000" "" "" "" "2" "" "00687" "Wilson (2007) Nephrol Dial Transplant 22, 1338" "family 2 patients" "F;M" "" "" "" "0" "" "" "" "" "00093001" "" "" "" "1" "" "00687" "{PMID:Gross 2002:12105244}" "" "" "" "Germany" "" "0" "" "" "" "" "00093002" "" "" "" "1" "" "00687" "{PMID:Gross 2002:12105244}" "" "" "" "Germany" "" "0" "" "" "" "" "00093003" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00093004" "" "" "" "1" "" "00687" "{PMID:Gross 2002:12105244} Netzer 1996" "" "" "" "Germany" "" "0" "" "" "" "" "00093005" "" "" "" "1" "" "00687" "King (2006) Hum Mutat 27, 1061" "" "M" "" "" "" "0" "" "" "" "" "00093006" "" "" "" "1" "" "00687" "Ellison (2009) Hum Genet 126, 329" "" "F" "" "" "" "0" "" "" "" "" "00093007" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "F" "" "Spain" "" "0" "" "" "" "" "00093008" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat 26, 60" "" "" "" "" "" "0" "" "" "" "" "00093009" "" "" "" "1" "" "00687" "{PMID:Gross 2002:12105244}" "" "" "" "Germany" "" "0" "" "" "" "" "00093010" "" "" "" "1" "" "00687" "Nagel (2005 )Hum Mutat 26, 60" "" "" "" "" "" "0" "" "" "" "" "00093011" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00093012" "" "" "" "1" "" "00687" "Peng (2004) Yi ChuanXue Bao 31, 1190" "" "" "" "China" "" "0" "" "" "" "" "00093013" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "" "" "Spain" "" "0" "" "" "" "" "00093014" "" "" "" "1" "" "00687" "Pont-Kingdon (2009) BMC Nephrol 10, 38" "" "F" "" "" "" "0" "" "" "" "" "00093015" "" "" "" "1" "" "00687" "King (2006) Hum Mutat 27, 1061" "" "M" "" "" "" "0" "" "" "" "" "00093016" "" "" "" "1" "" "00687" "King (2006) Hum Mutat 27, 1061" "" "F" "" "" "" "0" "" "" "" "" "00093017" "" "" "" "1" "" "00687" "Zhang (2007)" "" "" "" "China" "" "0" "" "" "" "" "00093018" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "M" "" "Slovenia" "" "0" "" "" "" "" "00093019" "" "" "" "2" "" "00687" "Pont-Kingdon (2009) BMC Nephrol 10, 38" "" "M" "" "" "" "0" "" "" "" "" "00093020" "" "" "" "1" "" "00687" "Nagel(2005) Hum Mutat 26,60" "" "" "" "" "" "0" "" "" "" "" "00093021" "" "" "" "1" "" "00687" "Hertz (2001) Hum Mutat 18, 141" "" "" "" "" "" "0" "" "" "" "" "00093022" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat26, 60" "" "" "" "" "" "0" "" "" "" "" "00093023" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat26, 60" "" "" "" "" "" "0" "" "" "" "" "00093024" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat26, 60" "" "" "" "" "" "0" "" "" "" "" "00093025" "" "" "" "1" "" "00687" "Tan et al (2009)" "" "M" "" "" "" "0" "" "" "" "" "00093026" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00093027" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "M" "" "Spain" "" "0" "" "" "" "" "00093028" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "M" "" "Spain" "" "0" "" "" "" "" "00093029" "" "" "" "1" "" "00687" "{PMID:Lemmink 1993:8406498}" "" "M" "" "" "" "0" "" "" "" "" "00093030" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat 26, 60" "" "" "" "" "" "0" "" "" "" "" "00093031" "" "" "" "1" "" "00687" "Savige (2008) Hum Genet 124; 293" "" "" "" "" "" "0" "" "" "" "" "00093032" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "M" "" "Spain" "" "0" "" "" "" "" "00093033" "" "" "" "1" "" "00687" "King (2006) Hum Mutat 27, 1061" "" "" "" "" "" "0" "" "" "" "" "00093034" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "M" "" "Spain" "" "0" "" "" "" "" "00093035" "" "" "" "1" "" "00687" "{PMID:Gross 2002:12105244}" "" "" "" "Germany" "" "0" "" "" "" "" "00093036" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "M" "" "Spain" "" "0" "" "" "" "" "00093037" "" "" "" "1" "" "00687" "{PMID:Hertz 2005:16133187}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00093038" "" "" "" "1" "" "00687" "{PMID:Hoischen 2009:19444485}" "" "F" "" "Germany" "" "0" "" "" "" "" "00093039" "" "" "" "1" "" "00687" "Hertz (2008) Clin Genet 74, 522" "" "M" "" "Denmark" "" "0" "" "" "" "" "00093040" "" "" "" "1" "" "00687" "Ding (1994) J Am Soc Nephrol 5, 161" "" "" "" "" "" "0" "" "" "" "" "00093041" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat 26, 60" "" "" "" "" "" "0" "" "" "" "" "00093042" "" "" "" "1" "" "00687" "Hertz (2008) Clin Genet 74, 522" "" "" "" "" "" "0" "" "" "" "" "00093043" "" "" "" "1" "" "00687" "Hertz (2008) Clin Genet 74, 522" "" "M" "" "Denmark" "" "0" "" "" "" "" "00093044" "" "" "" "1" "" "00687" "King (2006) Hum Mutat 27, 1061" "" "M" "" "" "" "0" "" "" "" "" "00093045" "" "" "" "1" "" "00687" "King (2006) Hum Mutat 27, 1061" "" "M" "" "" "" "0" "" "" "" "" "00093046" "" "" "" "1" "" "00687" "{PMID:Nozu 2008:18584212}, {PMID:Nozu 20093:19169714}" "" "F" "" "Japan" "" "0" "" "" "" "" "00093047" "" "" "" "1" "" "00687" "{PMID:Gross 2002:12105244}" "" "" "" "Germany" "" "0" "" "" "" "" "00093048" "" "" "" "1" "" "00687" "Tan (2009) jasavige@unimelb.edu.au" "" "M" "" "Australia" "" "0" "" "" "" "" "00093049" "" "" "" "1" "" "00687" "King (2006) Hum Mutat 27, 1061" "" "M" "" "" "" "0" "" "" "" "" "00093050" "" "" "" "1" "" "00687" "Nagel (2005) Hum Mutat 26, 60" "" "" "" "Australia" "" "0" "" "" "" "" "00093051" "" "" "" "1" "" "00687" "Tan (2009) jasavige@unimelb.edu.au" "" "M" "" "" "" "0" "" "" "" "" "00093052" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "F" "" "Spain" "" "0" "" "" "" "" "00093053" "" "" "" "1" "" "00687" "Pan (2004) Nephrol Dial Transplant 19, 1123" "" "" "" "" "" "0" "" "" "" "" "00093054" "" "" "" "2" "" "00687" "Arrondel (2004) Kidney international 65, 2030" "family 2 patients" "F;M" "" "France" "" "0" "" "" "" "" "00093055" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093056" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093057" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093058" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093059" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093060" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093061" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093062" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093063" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093064" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093065" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093066" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093067" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093068" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093069" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093070" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093071" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093072" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093073" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093074" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093075" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093076" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093077" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093078" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093079" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093080" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093081" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093082" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093083" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093084" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093085" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093086" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093087" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093088" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093089" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093090" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093091" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093092" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093093" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093094" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093095" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093096" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093097" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093098" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093099" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093100" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093101" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093102" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093103" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093104" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093105" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093106" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093107" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093108" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093109" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093110" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093111" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093112" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093113" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093114" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093115" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093116" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093117" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093118" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093119" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093120" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093121" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093122" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093123" "" "" "" "1" "" "00687" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "" "" "0" "" "" "" "" "00093124" "" "" "" "1" "" "00687" "Prof Cheong Hae II" "" "" "" "Korea" "" "0" "" "" "" "" "00093125" "" "" "" "1" "" "00687" "Prof Cheong Hae II" "" "" "" "Korea" "" "0" "" "" "" "" "00093126" "" "" "" "1" "" "00687" "Prof Cheong Hae II" "" "" "" "Korea" "" "0" "" "" "" "" "00093127" "" "" "" "1" "" "00687" "Prof Cheong Hae II" "" "" "" "Korea" "" "0" "" "" "" "" "00093128" "" "" "" "1" "" "00687" "Prof Cheong Hae II" "" "" "" "Korea" "" "0" "" "" "" "" "00093129" "" "" "" "1" "" "00687" "Prof Cheong Hae II" "" "" "" "Korea" "" "0" "" "" "" "" "00093130" "" "" "" "1" "" "00687" "Prof Cheong Hae II" "" "" "" "Korea" "" "0" "" "" "" "" "00093131" "" "" "" "1" "" "00687" "Prof Cheong Hae II" "" "" "" "Korea" "" "0" "" "" "" "" 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"00093309" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Nigeria" "" "0" "" "" "" "" "00093310" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Japan" "" "0" "" "" "" "" "00093311" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Nigeria" "" "0" "" "" "" "" "00093312" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "United States" "" "0" "" "" "" "" "00093313" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Japan" "" "0" "" "" "" "" "00093314" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "United States" "" "0" "" "" "" "" "00093315" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Japan" "" "0" "" "" "" "" "00093316" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Nigeria" "" "0" "" "" "" "" "00093317" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "United States" "" "0" "" "" "" "" "00093318" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "" "" "0" "" "" "" "" "00093319" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "" "" "0" "" "" "" "" "00093320" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Japan" "" "0" "" "" "" "" "00093321" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Nigeria" "" "0" "" "" "" "" "00093322" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Japan" "" "0" "" "" "" "" "00093323" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Nigeria" "" "0" "" "" "" "" "00093324" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "United States" "" "0" "" "" "" "" "00093325" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Japan" "" "0" "" "" "" "" "00093326" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Nigeria" "" "0" "" "" "" "" "00093327" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "" "" "0" "" "" "" "" "00093328" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Japan" "" "0" "" "" "" "" "00093329" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Nigeria" "" "0" "" "" "" "" "00093330" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Japan" "" "0" "" "" "" "" "00093331" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Nigeria" "" "0" "" "" "" "" "00093332" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "" "" "0" "" "" "" "" "00093333" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "" "" "0" "" "" "" "" "00093334" "" "" "" "1" "" "00687" "1000 genomes; NCBI" "" "" "" "" "" "0" "" "" "" "" "00093335" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "" "" "0" "" "" "" "" "00093336" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "" "" "0" "" "" "" "" "00093337" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Japan" "" "0" "" "" "" "" "00093338" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Nigeria" "" "0" "" "" "" "" "00093339" "" "" "" "1" "" "00687" "1000 genomes; NCBI" "" "" "" "" "" "0" "" "" "" "" "00093340" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "" "" "0" "" "" "" "" "00093341" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "" "" "0" "" "" "" "" "00093342" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "" "" "0" "" "" "" "" "00093343" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Nigeria" "" "0" "" "" "" "" "00093344" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "United States" "" "0" "" "" "" "" "00093345" "" "" "" "1" "" "00687" "1000 genomes" "" "" "" "Japan" "" "0" "" "" "" "" "00093346" "" "" "" "1" "" "00687" "1000 genomes; NCBI" "" "" "" "" "" "0" "" "" "" "" "00093347" "" "" "" "1" "" "00687" "Hapmap" "" "" "" "Japan" "" "0" "" "" "" "" "00093348" "" "" "" "1" "" "00687" "Hapmap" "" "" "" "United States" "" "0" "" "" "" "" "00093349" "" "" "" "20" "" "00687" "HapMap/NCBI" "6F / 14M" "F;M" "" "United States" "" "0" "" "" "African American" "" "00093350" "" "" "" "20" "" "00687" "HapMap/NCBI" "10F / 10 M" "F;M" "" "" "" "0" "" "" "European" "" "00093351" "" "" "" "20" "" "00687" "HapMap/NCBI" "11F / 9M" "F;M" "" "" "" "0" "" "" "Asian" "" "00093352" "" "" "" "30" "" "00687" "HapMap/NCBI" "12F/ 18M" "F;M" "" "" "" "0" "" "" "European" "" "00093353" "" "" "" "1" "" "00687" "HapMap/NCBI" "" "" "" "" "" "0" "" "" "" "" "00093354" "" "" "" "1" "" "00687" "HapMap/NCBI" "" "" "" "United States" "" "0" "" "" "European American" "" "00093355" "" "" "" "1" "" "00687" "HapMap/NCBI" "" "" "" "China" "" "0" "" "" "" "" "00093356" "" "" "" "1" "" "00687" "Hapmap/ NCBI" "" "" "" "" "" "0" "" "" "European" "" "00093357" "" "" "" "1" "" "00687" "Hapmap/ NCBI" "" "" "" "" "" "0" "" "" "" "" "00093358" "" "" "" "1" "" "00687" "Hapmap/NCBI" "" "" "" "" "" "0" "" "" "" "" "00093359" "" "" "" "4" "" "00687" "Hapmap/NCBI" "" "M" "" "" "" "0" "" "" "North America" "" "00093360" "" "" "" "1" "" "00687" "Hapmap" "" "" "" "Japan" "" "0" "" "" "" "" "00093361" "" "" "" "1" "" "00687" "Hapmap" "" "" "" "United States" "" "0" "" "" "" "" "00093362" "" "" "" "1" "" "00687" "Hapmap/NCBI" "" "" "" "United States" "" "0" "" "" "African american" "" "00093363" "" "" "" "1" "" "00687" "Hapmap/ NCBI" "" "" "" "" "" "0" "" "" "" "" "00093364" "" "" "" "1" "" "00687" "Hapmap/NCBI" "" "" "" "" "" "0" "" "" "" "" "00093365" "" "" "" "1" "" "00687" "Hapmap/ NCBI" "" "" "" "Korea" "" "0" "" "" "" "" "00093367" "" "" "" "1" "" "00687" "{PMID:Tan 2010:19965530}" "" "" "" "" "" "0" "" "" "" "" "00093368" "" "" "" "1" "" "00687" "{PMID:Artuso 2012:21897443}" "" "M" "" "" "" "0" "" "" "" "" "00093369" "" "" "" "1" "" "00687" "{PMID:Artuso 2012:21897443}" "Parents unaffected. Two brothers and 1 sister presented a similar clinical course" "M" "" "" "" "0" "" "" "" "" "00093370" "" "" "" "1" "" "00687" "{PMID:Oohashi 2011:20951201}" "AS & DL" "F" "" "" "" "0" "" "" "" "" "00093371" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00093372" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00093373" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00093374" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00093375" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00093376" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00093377" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00093378" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00093379" "" "" "" "1" "" "00687" "{PMID:Zhao 2012:22919268}" "" "F" "" "China" "" "0" "" "" "" "" "00093380" "" "" "" "1" "" "00687" "{PMID:Strasser 2012:23144074}" "heterozygous" "F" "" "" "" "0" "" "" "" "" "00093381" "" "" "" "1" "" "00687" "{PMID:Wang 2013:23085274}" "" "F" "" "China" "" "0" "" "" "" "" "00093382" "" "" "" "1" "" "00687" "{PMID:Becknell 2011:20881942}" "8M / 11 obligate carriers" "M" "" "" "" "0" "" "" "" "" "00093383" "" "" "" "3" "" "00687" "{PMID:Demosthenous 2012:21332469}" "2 male hemizygous, 3 female carriers" "F;M" "" "Greece" "" "0" "" "" "" "" "00093385" "" "" "" "2" "" "00687" "{PMID:Demosthenous 2012:21332469}" "2 affected males. 3 female carriers" "M" "" "Greece" "" "0" "" "" "" "" "00093389" "" "" "" "1" "" "00687" "{PMID:Demosthenous 2012:21332469}" "" "" "" "Cyprus" "" "0" "" "" "Greek-Cypriot" "" "00093390" "" "" "" "1" "" "00687" "{PMID:Demosthenous 2012:21332469}" "" "" "" "Cyprus" "" "0" "" "" "Greek-Cypriot" "" "00093391" "" "" "" "1" "" "00687" "{PMID:Demosthenous 2012:21332469}" "" "" "" "Cyprus" "" "0" "" "" "Greek-Cypriot" "" "00093392" "" "" "" "1" "" "00687" "{PMID:Demosthenous 2012:21332469}" "" "" "" "Cyprus" "" "0" "" "" "Greek-Cypriot" "" "00093393" "" "" "" "1" "" "00687" "{PMID:Demosthenous 2012:21332469}" "" "" "" "Cyprus" "" "0" "" "" "Greek-Cypriot" "" "00093394" "" "" "" "1" "" "00687" "{PMID:Demosthenous 2012:21332469}" "" "" "" "Cyprus" "" "0" "" "" "Greek-Cypriot" "" "00093395" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093396" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093397" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093398" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093399" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093400" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093401" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093402" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093403" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093404" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093405" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093406" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093407" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093408" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093409" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093410" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093411" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093412" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093413" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093414" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093415" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093416" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "F" "" "China" "" "0" "" "" "" "" "00093417" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093418" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093419" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093420" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093421" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "M" "" "China" "" "0" "" "" "" "" "00093422" "" "" "" "4" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093423" "" "" "" "3" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093424" "" "" "" "4" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093425" "" "" "" "4" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093426" "" "" "" "2" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093427" "" "" "" "4" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093428" "" "" "" "2" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093429" "" "" "" "17" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093430" "" "" "" "3" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093431" "" "" "" "4" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093432" "" "" "" "3" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093433" "" "" "" "19" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093434" "" "" "" "4" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093435" "" "" "" "4" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093436" "" "" "" "11" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093437" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093438" "" "" "" "4" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093439" "" "" "" "1" "" "00687" "{PMID:Ma 2011:21505094}" "" "" "" "China" "" "0" "" "" "" "" "00093440" "" "" "" "1" "" "00687" "{PMID:Van Der Loop 1999:10200983}" "" "M" "" "" "" "0" "" "" "" "" "00093441" "" "" "" "1" "" "00687" "{PMID:Van Der Loop 1999:10200983}" "" "F" "" "" "" "0" "" "" "" "" "00093442" "" "" "" "1" "" "00687" "{PMID:Van Der Loop 1999:10200983}" "" "M" "" "" "" "0" "" "" "" "" "00093443" "" "" "" "1" "" "00687" "{PMID:Van Der Loop 1999:10200983}" "" "M" "" "" "" "0" "" "" "" "" "00093444" "" "" "" "1" "" "00687" "{PMID:Van Der Loop 1999:10200983}" "" "M" "" "" "" "0" "" "" "" "" "00093445" "" "" "" "1" "" "00687" "{PMID:Renieri 1996:8651296}" "" "" "" "" "" "0" "" "" "" "" "00093446" "" "" "" "1" "" "00687" "{PMID:Uliana 2011:21380622}" "" "F" "" "" "" "0" "" "" "" "" "00093447" "" "" "" "1" "" "00687" "{PMID:Uliana 2011:21380622}" "" "M" "" "" "" "0" "" "" "" "" "00093448" "" "" "" "1" "" "00687" "{PMID:Uliana 2011:21380622}" "" "M" "" "" "" "0" "" "" "" "" "00093449" "" "" "" "1" "" "00687" "{PMID:Zhang 2011:21143337}" "" "F" "" "China" "" "0" "" "" "" "" "00093450" "" "" "" "1" "" "00687" "{PMID:Zhang 2011:21143337}" "" "M" "" "China" "" "0" "" "" "" "" "00093451" "" "" "" "1" "" "00687" "{PMID:Zhang 2011:21143337}" "" "F" "" "China" "" "0" "" "" "" "" "00093452" "" "" "" "1" "" "00687" "{PMID:Zhang 2011:21143337}" "" "F" "" "China" "" "0" "" "" "" "" "00093453" "" "" "" "1" "" "00687" "{PMID:Tug 2011:21848006}" "" "M" "" "Turkey" "" "0" "" "" "Turkish" "" "00093454" "" "" "" "1" "" "00687" "{PMID:Rotondi 2012:22518824}" "" "M" "" "" "" "0" "" "" "" "" "00093455" "" "" "" "1" "" "00687" "{PMID:Nozu 2008:18584212}, {PMID:Nozu 20093:19169714}" "" "F" "" "Japan" "" "0" "" "" "" "" "00093456" "" "" "" "1" "" "00687" "{PMID:Zhang 2012:23290210}" "" "" "" "China" "" "0" "" "" "" "" "00093457" "" "" "" "1" "" "00687" "{PMID:Zhang 2012:23290210}" "" "" "" "China" "" "0" "" "" "" "" "00093458" "" "" "" "1" "" "00687" "{PMID:Zhang 2012:23290210}" "" "" "" "China" "" "0" "" "" "" "" "00093459" "" "" "" "1" "" "00687" "{PMID:Rodriguez 2010:20186809}" "" "M" "" "" "" "0" "" "" "white" "" "00093460" "" "" "" "1" "" "00687" "{PMID:Robson 1994:7923864}, {PMID:Rodriguez 2010:20186809}, {PMID:Meloni 2002:12011158}" "Brother and maternal uncle affected." "M" "" "" "" "0" "" "" "" "" "00093461" "" "" "" "1" "" "00687" "{PMID:Rodriguez 2010:20186809}, {PMID:Meloni 2002:12011158}, {PMID:Piccini 1998:9480748}" "" "M" "" "" "" "0" "" "" "European" "" "00093462" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093463" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093464" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093465" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093466" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093467" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093468" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093469" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093470" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093471" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093472" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093473" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "Native American/ white" "" "00093474" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093475" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093476" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093477" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093478" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093479" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093480" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093481" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093482" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093483" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093484" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093485" "" "" "" "1" "" "00687" "Hae Il et al" "" "" "" "Korea" "" "0" "" "" "" "" "00093486" "" "" "" "1" "" "00687" "Matonagel" "Die Frameshiftmutation f¸hrt zu einem vorzeitigen Stopcodon auf der Position 154 im Exon 8" "" "" "" "" "0" "" "" "" "" "00093487" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093488" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093489" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "white" "" "00093490" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "white" "" "00093491" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093492" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093493" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093494" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093495" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093496" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093497" "" "" "" "1" "" "00687" "Matonagel" "Eine Glycinmutation ist bereits an dieser Position beschrieben" "" "" "" "" "0" "" "" "" "" "00093498" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093499" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093500" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093501" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093502" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093503" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093504" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093505" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093506" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "" "" "00093507" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093508" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093509" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093510" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093511" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093512" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093513" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093514" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093515" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093516" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093517" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093518" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093519" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093520" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093521" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093522" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093523" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093524" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093525" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093526" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093527" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093528" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093529" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093530" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093531" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093532" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093533" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093534" "" "" "" "1" "" "00687" "Jens Denmark" "" "" "" "" "" "0" "" "" "" "" "00093535" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093536" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093537" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093538" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093539" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093540" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093541" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "white" "" "00093542" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093543" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093544" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093545" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093546" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093547" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093548" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093549" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093550" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093551" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093552" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093553" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093554" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093555" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "" "" "00093556" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093557" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093558" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093559" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "" "" "0" "" "" "South American" "" "00093560" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093561" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093562" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093563" "" "" "" "1" "" "00687" "Carmen Fernandes" "" "F" "" "" "" "0" "" "" "" "" "00093564" "" "" "" "1" "" "00687" "Carmen Fernandes" "" "F" "" "" "" "0" "" "" "" "" "00093565" "" "" "" "1" "" "00687" "Carmen Fernandes" "" "M" "" "" "" "0" "" "" "" "" "00093566" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093567" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "white" "" "00093568" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093569" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093570" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093571" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "" "" "00093572" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093573" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093574" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093575" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093576" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "" "" "00093577" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093578" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093579" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093580" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093581" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093582" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093583" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093584" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093585" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093586" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093587" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093588" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093589" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "white" "" "00093590" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093591" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093592" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093593" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093594" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093595" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093596" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093597" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093598" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093599" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093600" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093601" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093602" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093603" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093604" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093605" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093606" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "white;African American;Other" "" "00093607" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093608" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093609" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093610" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093611" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093612" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093613" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093614" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093615" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093616" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093617" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093618" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093619" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093620" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093621" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093622" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093623" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093624" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "Hispanic" "" "00093625" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093626" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093627" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093628" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093629" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093630" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093631" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093632" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093633" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093634" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "white" "" "00093635" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093636" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093637" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093638" "" "" "" "1" "" "00687" "Matonagel" "Eine andere missensemutation wurde bereits an dieser position beschrieben [PMID 8940267]." "" "" "" "" "0" "" "" "" "" "00093639" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093640" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093641" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093642" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093643" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093644" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093645" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093646" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093647" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093648" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093649" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093650" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "white" "" "00093651" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093652" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093653" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093654" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093655" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093656" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093657" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093658" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093659" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093660" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093661" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093662" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093663" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093664" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093665" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093666" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093667" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "" "" "00093668" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093669" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093670" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093671" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093672" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093673" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093674" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093675" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093676" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "White" "" "00093677" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "white;Hispanic" "" "00093678" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "United States" "" "0" "" "" "African American" "" "00093679" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093680" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093681" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093682" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093683" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "white" "" "00093684" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093685" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093686" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "" "" "00093687" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093688" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "white" "" "00093689" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093690" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093691" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093692" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093693" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093694" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093695" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093696" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093697" "" "" "" "1" "" "00687" "Matonagel" "eine G>C Mutation wurde an der selben Stelle bereits beschrieben [8648925]" "" "" "" "" "0" "" "" "" "" "00093698" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093699" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093700" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093701" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093702" "" "" "" "1" "" "00687" "Carmen Fernandes" "" "F" "" "" "" "0" "" "" "" "" "00093703" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093704" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093705" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093706" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093707" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093708" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093709" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093710" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093711" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093712" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093713" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093714" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093715" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093716" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093717" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093718" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "Asian/Oriental/white/Hispanic" "" "00093719" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "Asian/Oriental/white/Hispanic" "" "00093720" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093721" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093722" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093723" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093724" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093725" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093726" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093727" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093728" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093729" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093730" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093731" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093732" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093733" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093734" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093735" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093736" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093737" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093738" "" "" "" "1" "" "00687" "Jens Denmark" "" "" "" "" "" "0" "" "" "" "" "00093739" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093740" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093741" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093742" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093743" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093744" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "Hispanic" "" "00093745" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093746" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093747" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093748" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093749" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093750" "" "" "" "1" "" "00687" "Jens Denmark" "" "" "" "" "" "0" "" "" "" "" "00093751" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093752" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093753" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093754" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093755" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093756" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "Canada" "" "0" "" "" "Native American (Indian)" "" "00093757" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "" "" "00093758" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "" "" "00093759" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093760" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093761" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093762" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "" "" "00093763" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093764" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093765" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093766" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093767" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093768" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093769" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093770" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093771" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093772" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093773" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093774" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093775" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093776" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093777" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "white" "" "00093778" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093779" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093780" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093781" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "" "" "00093782" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093783" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093784" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093785" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093786" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093787" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093788" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093789" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093790" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093791" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093792" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093793" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093794" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "Mongolian" "" "00093795" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093796" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093797" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093798" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093799" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "" "" "00093800" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093801" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093802" "" "" "" "1" "" "00687" "Matonagel" "drei verschiedene Missensemutationen sind an dieser Codonposition bereits beschrieben worden" "" "" "" "" "0" "" "" "" "" "00093803" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "" "" "00093804" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093805" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093806" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "" "" "0" "" "" "South American" "" "00093807" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093808" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093809" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093810" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093811" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093812" "" "" "" "1" "" "00687" "Carmen Fernandes" "" "F" "" "" "" "0" "" "" "" "" "00093813" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093814" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093815" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "" "" "00093816" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093817" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093818" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093819" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093820" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "Asian/Oriental" "" "00093821" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093822" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093823" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093824" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093825" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093826" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "white" "" "00093827" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "white" "" "00093828" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "Hispanic" "" "00093829" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093830" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "" "" "00093831" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093832" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093833" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093834" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093835" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093836" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093837" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093838" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "white" "" "00093839" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093840" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093841" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093842" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093843" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093844" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093845" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093846" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093847" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093848" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093849" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "white" "" "00093850" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093851" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093852" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093853" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093854" "" "" "" "1" "" "00687" "Carmen Fernandes" "" "M" "" "" "" "0" "" "" "" "" "00093855" "" "" "" "1" "" "00687" "Carmen Fernandes" "" "M" "" "" "" "0" "" "" "" "" "00093856" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093857" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093858" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093859" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093860" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093861" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093862" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093863" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093864" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093865" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093866" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093867" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093868" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093869" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093870" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093871" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "F" "" "Spain" "" "0" "" "" "" "" "00093872" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093873" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093874" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093875" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093876" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093877" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093878" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093879" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093880" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093881" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093882" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093883" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093884" "" "" "" "1" "" "00687" "Jens Denmark" "" "" "" "" "" "0" "" "" "" "" "00093885" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093886" "" "" "" "1" "" "00687" "Jens Denmark" "" "" "" "" "" "0" "" "" "" "" "00093887" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093888" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093889" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093890" "" "" "" "1" "" "00687" "Matonagel" "Eine missensemutation an der selben Position in der Datenbank PMID 10094548" "" "" "" "" "0" "" "" "" "" "00093891" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093892" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093893" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093894" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093895" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093896" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093897" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093898" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "Asian/Oriental" "" "00093899" "" "" "" "1" "" "00687" "Matonagel" "Eine Mutation befindet sich an dieser Position bereits in der Datenbank p.G1486A" "" "" "" "" "0" "" "" "" "" "00093900" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093901" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093902" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093903" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093904" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "white" "" "00093905" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093906" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093907" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093908" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093909" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093910" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093911" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093912" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093913" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093914" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093915" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093916" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093917" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093918" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093919" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093920" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093921" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093922" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093923" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093924" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093925" "" "" "" "1" "" "00687" "ARUP" "" "F" "" "" "" "0" "" "" "white" "" "00093926" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093927" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093928" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093929" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093930" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093931" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093932" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "Hispanic" "" "00093933" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093934" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093935" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093936" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093937" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093938" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093939" "" "" "" "1" "" "00687" "ARUP" "" "M" "" "" "" "0" "" "" "white" "" "00093940" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093941" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093942" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093943" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093944" "" "" "" "1" "" "00687" "Fundacio_Puigvert" "" "M" "" "Spain" "" "0" "" "" "" "" "00093945" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093946" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093947" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093948" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093949" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093950" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093951" "" "" "" "1" "" "00687" "Hae Il et al" "" "F" "" "Korea" "" "0" "" "" "" "" "00093952" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093953" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093954" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093955" "" "" "" "1" "" "00687" "Hae Il et al" "" "M" "" "Korea" "" "0" "" "" "" "" "00093956" "" "" "" "1" "" "00687" "Matonagel" "Eine missensemutation bereits an dieser Position beschrieben p.C1678W [PMID 10561141]" "" "" "" "" "0" "" "" "" "" "00093957" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093958" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093959" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093960" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093961" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093962" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00093963" "" "" "" "1" "" "01547" "" "" "F" "" "China" "" "0" "" "" "Asia" "" "00093964" "" "" "" "1" "" "01547" "" "" "M" "" "China" "" "0" "" "" "Asia" "" "00093965" "" "" "" "1" "" "01546" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00093966" "" "" "" "1" "" "01546" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00093967" "" "" "" "1" "" "01546" "" "" "M" "" "" "" "0" "" "" "" "" "00093968" "" "" "" "1" "" "01546" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00093969" "" "" "" "1" "" "01546" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00093970" "" "" "" "1" "" "01546" "" "" "M" "" "" "" "0" "" "" "" "" "00093971" "" "" "" "1" "" "01546" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00093972" "" "" "" "1" "" "01546" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00093973" "" "" "" "1" "" "01546" "{PMID:Wang 2012:22921432}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00093974" "" "" "" "1" "" "01546" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00093975" "" "" "" "1" "" "01546" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00093976" "" "" "" "1" "" "01546" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00093977" "" "" "" "2" "" "01546" "{PMID:Sa 2013:23958657}" "2-generation family, affected mother/son" "F" "" "Portugal" "" "0" "" "" "" "23958657-Fam3PatIII1" "00093978" "" "" "" "1" "" "01546" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00093979" "" "" "" "2" "" "01546" "{PMID:Sa 2013:23958657}" "3-generation family, affected mother/son" "M" "" "Portugal" "" "0" "" "" "" "23958657-Fam2PatIII1" "00093980" "" "" "" "1" "" "01546" "Knebelmann (1996) Am J Hum Genet 59 (6): 1221‚Äì1232." "" "M" "" "Portugal" "" "0" "" "" "" "" "00093981" "" "" "" "1" "" "01546" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00093982" "" "" "" "1" "" "01546" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00093983" "" "" "" "1" "" "01546" "Plant (1999) Hum Mutat 13 (2): 124‚Äì132." "" "M" "" "Portugal" "" "0" "" "" "" "" "00093984" "" "" "" "1" "" "01546" "Bekheirnia (2010) J Am Soc Nephrol 21 (5): 876‚Äì883." "" "M" "" "Portugal" "" "0" "" "" "" "" "00093985" "" "" "" "1" "" "01546" "Martin (1998) J Am Soc Nephrol 9 (12): 2291‚Äì2301." "" "M" "" "Portugal" "" "0" "" "" "" "" "00093986" "" "" "" "1" "" "01546" "Renieri (1996) Am J Hum Genet 58 (6): 1192‚Äì1204." "" "M" "" "Portugal" "" "0" "" "" "" "" "00093987" "" "" "" "1" "" "01548" "" "" "F" "" "Hungary" "" "0" "" "" "" "" "00093988" "" "" "" "1" "" "01548" "" "" "M" "" "Hungary" "" "0" "" "" "" "" "00093989" "" "" "" "1" "" "01548" "" "" "M" "" "Hungary" "" "0" "" "" "" "" "00093990" "" "" "" "1" "" "01548" "" "" "M" "" "Hungary" "" "0" "" "" "" "" "00093991" "" "" "" "1" "" "01548" "" "" "F" "" "Hungary" "" "0" "" "" "" "" "00093992" "" "" "" "1" "" "01548" "" "" "M" "" "Hungary" "" "0" "" "" "" "" "00093993" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00093994" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "" "" "0" "" "" "" "" "00093995" "" "" "" "1" "" "00687" "{PMID:Hertz 2001:11462238}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00093996" "" "" "" "1" "" "00687" "{PMID:Lemmink 1993:8406498}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00093997" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "" "" "Spain" "" "0" "" "" "" "" "00093998" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "" "" "Spain" "" "0" "" "" "" "" "00093999" "" "" "" "1" "" "00687" "{PMID:Tazon-Vega 2007:17660027}" "" "" "" "Spain" "" "0" "" "" "" "" "00094000" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00094001" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "" "" "China" "" "0" "" "" "" "" "00094002" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00094003" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00094004" "" "" "" "1" "" "00687" "{PMID:Wang 2005:15780079}" "" "M" "" "China" "" "0" "" "" "" "" "00103990" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-018A" "00150131" "" "" "" "2" "" "02367" "" "" "F" "" "Czech Republic" "30y" "0" "" "" "" "" "00151964" "" "" "" "4" "" "02367" "" "" "F" "no" "Czech Republic" ">11y" "0" "" "" "" "" "00152046" "" "" "" "3" "" "02367" "" "" "F" "no" "Czech Republic" ">28y" "0" "" "" "" "" "00152121" "" "" "" "3" "" "02367" "" "" "M" "no" "Czech Republic" ">05y" "0" "" "" "" "" "00152122" "" "" "" "4" "" "02367" "" "" "M" "no" "Czech Republic" "25y" "0" "" "" "" "" "00152129" "" "" "" "3" "" "02367" "" "" "F" "no" "Czech Republic" ">17y" "0" "" "" "" "" "00152540" "" "" "" "3" "" "02367" "" "" "M" "no" "Czech Republic" "15y" "0" "" "" "" "" "00152541" "" "" "" "2" "" "02367" "" "" "F" "no" "Czech Republic" ">13y" "0" "" "" "" "" "00152599" "" "" "" "2" "" "02367" "" "" "F" "no" "Czech Republic" ">43y" "0" "" "" "" "" "00152600" "" "" "" "1" "" "02367" "" "" "F" "?" "Czech Republic" ">03y" "0" "" "" "" "" "00152601" "" "" "" "3" "" "02367" "" "" "M" "no" "Czech Republic" ">15y" "0" "" "" "" "" "00152602" "" "" "" "1" "" "02367" "" "" "M" "?" "Czech Republic" "42y" "0" "" "" "" "" "00152603" "" "" "" "1" "" "02367" "" "" "M" "no" "Czech Republic" "04y" "0" "" "" "" "" "00152604" "" "" "" "1" "" "02367" "" "" "M" "no" "Czech Republic" "31y" "0" "" "" "" "" "00152605" "" "" "" "1" "" "02367" "" "" "M" "no" "Czech Republic" "23y" "0" "" "" "" "" "00152606" "" "" "" "2" "" "02367" "" "" "F" "no" "Czech Republic" "31y" "0" "" "" "" "" "00152663" "" "" "" "3" "" "02367" "" "" "F" "no" "Czech Republic" ">11y" "0" "" "" "" "" "00152664" "" "" "" "4" "" "02367" "" "" "M" "no" "Czech Republic" "14y" "0" "" "" "" "" "00152665" "" "" "" "1" "" "02367" "" "" "F" "no" "Czech Republic" "01y" "0" "" "" "" "" "00152694" "" "" "" "1" "" "02367" "" "" "F" "?" "Czech Republic" "44y" "0" "" "" "" "" "00152695" "" "" "" "2" "" "02367" "" "" "M" "no" "Czech Republic" "46y" "0" "" "" "" "" "00152712" "" "" "" "3" "" "02367" "" "" "M" "no" "Czech Republic" "05y" "0" "" "" "" "" "00152729" "" "" "" "1" "" "02367" "" "" "F" "no" "Czech Republic" "09y" "" "" "" "white" "" "00152730" "" "" "" "1" "" "02367" "" "" "M" "no" "Czech Republic" "42y" "" "" "" "white" "" "00152941" "" "" "" "1" "" "02367" "" "sporadic case" "F" "no" "Czech Republic" "18y" "" "" "" "white" "" "00152942" "" "" "" "1" "" "02367" "" "3-generation family, 5 affected (4F, 1M)" "F" "no" "Czech Republic" "32y" "" "" "" "white" "" "00152960" "" "" "" "2" "" "02367" "" "2-generation family (1F, 1M)" "M" "no" "Czech Republic" "33y" "" "" "" "white" "" "00153012" "" "" "" "1" "" "02367" "" "" "M" "?" "Czech Republic" "35y" "" "" "" "white" "" "00153013" "" "" "" "1" "" "02367" "" "3-generation family, 4 affected (2F, 2M - ESRD at 40y)" "M" "?" "Czech Republic" "32y" "" "" "" "white" "" "00153014" "" "" "" "1" "" "02367" "" "2-generation family, 2 affected (1F, 1M-ESRD)" "F" "no" "Czech Republic" "29y" "" "" "" "" "" "00153307" "" "" "" "1" "" "02367" "" "" "M" "?" "Czech Republic" "18y" "" "" "" "white" "" "00153317" "" "" "" "1" "" "02367" "" "sporadic case, genealogy unknown" "M" "?" "Czech Republic" "15y" "" "" "" "white" "" "00153318" "" "" "" "1" "" "02367" "" "" "M" "no" "Czech Republic" "33y" "" "" "" "white" "" "00153322" "" "" "" "1" "" "02367" "" "3-generation family, 3 affected (1F, 2M)" "F" "no" "Czech Republic" "29y" "" "" "" "white" "" "00153396" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153398" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153399" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153403" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153406" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153407" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153411" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153415" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153419" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153424" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153430" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153433" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153434" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153438" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153439" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153441" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153443" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153444" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153447" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153448" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153449" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153450" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153452" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153454" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153460" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153464" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153465" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153466" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153467" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153469" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153470" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153477" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153478" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153486" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153487" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153488" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153489" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153493" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153496" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153497" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153499" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153502" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153504" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153506" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153508" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153510" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153511" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153513" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153516" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153517" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153518" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153519" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153520" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153521" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153522" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153524" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153526" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153528" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153532" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153534" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153535" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153536" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153538" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153541" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153542" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153544" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153547" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153551" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153552" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153555" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153561" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153565" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153566" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153567" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153570" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153572" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153574" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153576" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153578" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153579" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153580" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153582" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153583" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153586" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153589" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153590" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153593" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153596" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153597" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153598" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153608" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153612" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153614" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153615" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153616" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153618" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153620" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153624" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153628" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153629" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153630" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153634" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153635" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153636" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153637" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153639" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153641" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153644" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153645" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153651" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153653" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153654" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153655" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153656" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153658" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153659" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153660" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153661" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153662" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153664" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153668" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153670" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153673" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153674" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153677" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153679" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "" "" "00153988" "" "" "" "1" "" "00687" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "" "" "Japan" "" "0" "" "" "" "" "00153989" "" "" "" "1" "" "00687" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "" "" "Japan" "" "0" "" "" "" "" "00153990" "" "" "" "1" "" "00687" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "" "" "Japan" "" "0" "" "" "" "" "00153991" "" "" "" "1" "" "00687" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "" "" "Japan" "" "0" "" "" "" "" "00153992" "" "" "" "1" "" "00687" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "" "" "Japan" "" "0" "" "" "" "" "00153993" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153994" "" "" "" "1" "" "00687" "{PMID:Liu 2015:26179878}, {DOI:Liu 2015:10.1186/s12881-015-0189-7}" "15y-haematuria, proteinuria. Mutation in another collagen gene too - COL6A3:c.2782C >T, p.R928C. Affected mother had only a mild case of diffuse oesphageal leiomyomatosis." "M" "" "China" "" "0" "" "" "Chinese" "" "00153995" "" "" "" "1" "" "00687" "" "" "M" "" "Denmark" "" "0" "" "" "white" "" "00153996" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00153997" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00153998" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00153999" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154000" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and maternal aunt with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154001" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Brother, daughter, and grandson with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154002" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00154003" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154004" "" "" "" "3" "" "00687" "{PMID:Sa 2013:23958657}, {DOI:Sa 2013:10.1136/jmedgenet-2013-101670}" "2-generation family, 3 affecteds (2F, M), mother/son/sister" "M" "" "Portugal" "" "0" "" "" "Portuguese" "23958657-Fam1PatIII1" "00154005" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154006" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154007" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154008" "" "" "" "1" "" "00687" "{PMID:Liu 2015:26274329}, {DOI:Liu 2015:10.1371/journal.pone.0133636}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154009" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and maternal half-aunt with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154010" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154011" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154012" "" "" "" "1" "" "00687" "{PMID:Guo 2014:24522658}, {DOI:Guo 2014:10.1007/s11033-014-3227-1}" "Four affected men with this mutation had adolescent-onset Alport syndrome. Two developed ESRD at 30 and 38 years. Three heterozygous females had a milder phenotype. One additional girl aged 13 years with heterozygous c.368G>A was asymptomatic." "M" "" "China" "" "0" "" "" "Chinese, Tujia" "" "00154013" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and several maternal relatives with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154014" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154015" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00154016" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154017" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154018" "" "" "" "1" "" "00687" "{PMID:Xiu 2014:25110662}, {DOI:Xiu 2014:10.1155/2014/186048}" "Heterozygous, with onset at 20 years. Forty-two year old mother presented at age 13 years, developed ESRD at 36. Two other heterozygotes aged 6 and 22, had haematuria onset at 3 years. No apparent hearing loss or ocular abnormalities" "F" "" "China" "" "0" "" "" "Chinese" "" "00154019" "" "" "" "1" "" "00687" "{PMID:Chen 2016:26866448}, {DOI:Chen 2016:10.1089/gtmb.2015.0248}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154020" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00154021" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and maternal grandmother with Alport syndrome" "M" "" "Turkey" "" "0" "" "" "" "" "00154022" "" "" "" "1" "" "00687" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00154023" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154024" "" "" "" "1" "" "00687" "{PMID:Nozu 2014:25183659 }, Hashimura 2014" "" "M" "" "Japan" "" "0" "" "" "Japanese" "Patient ID 7 (Hashimura 2014)" "00154025" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154026" "" "" "" "1" "" "00687" "{PMID:Wuttke 2015:26613025}, {DOI:Wuttke 2015:10.1093/ckj/sfv091}" "Parents healthy, one 18 year old male cousin on maternal side with proteinuria" "M" "" "Germany" "" "0" "" "" "white" "" "00154027" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154028" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Father with Alport syndrome" "F" "" "Germany" "" "0" "" "" "" "" "00154031" "" "" "" "1" "" "00687" "{PMID:Adam 2014:24944784}, {DOI:Adam 2014:10.1093/ckj/sft144}" "His mother reached ESRD at at 32 years, and underwent successful renal transplant. Renal biopsy showed only mesangial proliferation on light microscopy. Genetic testing confirmed that both mother and son had the same mutation." "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00154032" "" "" "" "1" "" "00687" "{PMID:Lin 2014:25381091}, {DOI:Lin 2014:10.1186/1471-2369-15-175}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154033" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154034" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "proband of 8 years with both variants presented with hematuria. Both the father with the benignCOL4A4 variant and the mother with the hypomorphic variant in COL4A5 are healthy. In the maternal branch, there are 3 affected male subjects, two with hearing loss and ESRD at 33 and 48 years. The other male, aged 23 years, has hematuria, proteinuria and bilateral keratoconus. On the maternal side, of two females, patients, one died at 76 years with ESRD starting at 70 years, and the one who was 52 years old had a hearing loss." "F" "" "Italy" "" "0" "" "" "" "" "00154035" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154036" "" "" "" "1" "" "00687" "{PMID:Baek 2016:27410722}, {DOI;Baek 2016:10.1080/15513815.2016.1202362}" "3 patients (2 boys,1 girl) developed Alport syndrome based on EM, but originally diagnosed with TBMN. Only the girl had a heterozygous COL4A5 nonsense mutation. ? All Alport genes examined. No ocular changes." "F" "" "Korea, South (Republic)" "" "0" "" "" "Korean" "" "00154037" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154038" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and maternal aunt with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154039" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154040" "" "" "" "1" "" "00687" "{PMID:Fu 2016:26581810}, {DOI:Fu 2016:10.1007/s10157-015-1197-9}" "" "M" "" "Japan" "" "0" "" "" "" "" "00154041" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother, sister, and maternal grandmother with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154042" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00154043" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00154044" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "M" "" "Germany" "" "0" "" "" "" "" "00154045" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154046" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154047" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154048" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154049" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154050" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "M" "" "Germany" "" "0" "" "" "" "" "00154051" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother with Alport syndrome" "F" "" "Germany" "" "0" "" "" "" "" "00154052" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and brother with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154053" "" "" "" "1" "" "00687" "{PMID:Gast 2016:26346198}, {DOI:Gast 2016:10.1093/ndt/gfv325}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00154054" "" "" "" "1" "" "00687" "{PMID:Gibson 2013:24472419 }, {DOI:Gibson 2013:10.1017/S0016672313000220}" "Proband\'s father and paternal grandmother had the COL4A5 mutation, with renal features and GBM changes. Proband and her sister both inheritated p.N188I (NPHS1) from asymptomatic mother" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00154055" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154056" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154057" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother with Alport syndrome" "M" "" "Italy" "" "0" "" "" "" "" "00154058" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00154059" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154060" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00154061" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Father with Alport syndrome" "F" "" "Turkey" "" "0" "" "" "" "" "00154062" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154063" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00154064" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154065" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154066" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154067" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154068" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Father, paternal aunt and three paternal first cousins with Alport syndrome" "F" "" "Turkey" "" "0" "" "" "" "" "00154069" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "Asian" "" "00154070" "" "" "" "1" "" "00687" "{PMID:Nozu 2014:25183659 }, Hashimura 2014" "" "M" "" "Japan" "" "0" "" "" "Japanese" "Patient ID 27 (Hashimura 2014)" "00154071" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154072" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154073" "" "" "" "1" "" "00687" "{PMID:Zholdybayeva 2014:25572247}" "Aged 16. Mother with ESRD, 3 maternal uncles died from CKD between 20 and 32 years. Fourteen family members with renal features" "M" "" "Kazakhstan" "" "0" "" "" "Kazakh" "" "00154074" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00154075" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154076" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and daughter with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154077" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother, maternal uncle and maternal grandmother with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154078" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154079" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154080" "" "" "" "1" "" "00687" "{PMID:Fernandez-Rosado 2015:26063487}, {DOIFernandez-Rosado 2015:10.1111/nep.12486}" "Family history of Alport syndrome in maternal line, as well as clinical evidence" "F" "" "Spain" "" "0" "" "" "" "" "00154081" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154082" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154083" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00154084" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00154085" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00154086" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00154087" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154088" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154089" "" "" "" "1" "" "00687" "{PMID:Liu 2015:26274329}, {DOI:Liu 2015:10.1371/journal.pone.0133636}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154090" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00154091" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154092" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother, maternal grandfather and two maternal great uncles with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154093" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154094" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154095" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154096" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154097" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00154098" "" "" "" "1" "" "00687" "{PMID:Demosthenous 2012:21332469}, {DOI:Demosthenous 2012:10.1111/j.1399-0004.2011.01647.x}" "" "M" "" "Greece" "" "0" "" "" "Greek" "" "00154100" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Three daughters with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154101" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Father with Alport syndrome" "F" "" "Germany" "" "0" "" "" "" "" "00154102" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and maternal grandfather with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154103" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00154104" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Father and sister with Alport syndrome" "F" "" "Germany" "" "0" "" "" "" "" "00154105" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154106" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and maternal grandfather with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154107" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154108" "" "" "" "1" "" "00687" "{PMID:Demosthenous 2012:21332469}, {DOI:Demosthenous 2012:10.1111/j.1399-0004.2011.01647.x}" "" "M" "" "Cyprus" "" "0" "" "" "Greek" "" "00154109" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154110" "" "" "" "1" "" "00687" "{PMID:Fu 2016:26014433}, {DOI:Fu 2016:10.1038/ejhg.2015.113}" "Proband\'s α5(IV) expression showed a mosaic pattern. He was first detected with haematuria and proteinuriaat the age of 3 years, kidney biopsy taken at 10 years demonstrated Alport syndrome with a GBM with basket weave pattern. At the age of 18, he had hematuria and proteinuria of 0.83 g/g Cr. There is no other affected member in the pedigree." "M" "" "Japan" "" "0" "" "" "" "" "00154111" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154112" "" "" "" "1" "" "00687" "{PMID:Bailara 2015:26168235}, {DOI:Bailara 2015:10.1371/journal.pone.0132010}" "" "F" "" "Kazakhstan" "" "0" "" "" "Kazakhs" "" "00154113" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {PMID:Moriniere 2014:24854265}" "Her 69 year old mother had c.1931G>A; p.Gly644Asp(COL4A5) with haematuria and proteinuria during her pregnancies, without hearing loss; her 11 year old son has c.2075G>T; p.Gly692Val(COL4A4) with proteinuria. The other 9 year old son has no mutation and is asymptomatic" "F" "" "" "" "0" "" "" "Europe" "" "00154116" "" "" "" "1" "" "00687" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00154117" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Father with Alport syndrome" "F" "" "Germany" "" "0" "" "" "" "" "00154118" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154119" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154120" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154121" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154122" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154123" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154124" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154125" "" "" "" "1" "" "00687" "{PMID:Feltran 2017:28658201}, {DOI:Feltran 2017:10.1097/TP.0000000000001846}" "" "M" "" "Brazil" "" "0" "" "" "white" "" "00154126" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "Intronic variant from her 32 year old mother, the other two variants from her 33 year old father who developed ESRD at 25. She has 2 brothers and 3 sisters with various combinations of the variants." "F" "" "" "" "0" "" "" "Europe" "" "00154129" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154130" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154131" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother, two brothers, maternal grandmother, and maternal aunt with Alport syndrome" "F" "" "Germany" "" "0" "" "" "" "" "00154132" "" "" "" "1" "" "00687" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "brother developed ESRD at 40" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00154133" "" "" "" "1" "" "00687" "{PMID:Fu 2016:26014433}, {DOI:Fu 2016:10.1038/ejhg.2015.113}" "proband was diagnosed with XL Alport syndrome with a somatic and gonadal mosaic variant in COL4A5. Proband\'s two daughters have the same heterozygous variant and developed haematuria and proteinuria whcih was diagnosed also as X-linked Alport syndrome. The daughters\' mother was asymptomatic with no variants." "M" "" "Japan" "" "0" "" "" "" "" "00154134" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154135" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154136" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154137" "" "" "" "1" "" "00687" "{PMID:Chiereghin 2017:28570636}, {DOI:Chiereghin 2017:10.1371/journal.pone.0178630}" "Proband\'s mother’s side had renal problems and/or died from ESRD, although her mother does not show an overt renal phenotype, apart from haematuria. The proband’s daughter (aged 21) has hematuria, developed proteinuria at age 8, which is progressively worsening, and also had a hearing loss with onset in the first decade" "F" "" "Italy" "" "0" "" "" "Italian" "" "00154138" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "F" "" "Germany" "" "0" "" "" "" "" "00154139" "" "" "" "1" "" "00687" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00154140" "" "" "" "1" "" "00687" "Unknown" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154141" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154142" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "M" "" "Germany" "" "0" "" "" "" "" "00154143" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154144" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00154145" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154146" "" "" "" "1" "" "00687" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00154147" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Son with Alport syndrome" "F" "" "Germany" "" "0" "" "" "" "" "00154148" "" "" "" "1" "" "00687" "Beicht S, Gene 526 (2013) 474–477" "" "M" "" "Germany" "" "0" "" "" "German" "" "00154149" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154150" "" "" "" "1" "" "00687" "{PMID:Liu 2015:26274329}, {DOI:Liu 2015:10.1371/journal.pone.0133636}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154151" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154152" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154153" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154154" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154155" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154156" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154157" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154158" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154159" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154161" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Father with Alport syndrome" "F" "" "Germany" "" "0" "" "" "" "" "00154162" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "Combined with a COL4A3 mutation inherited from the unaffected father. Proband presents with a severe phenotype in relation to age (8 years), with haematuria and proteinuria. Both her father (44 years) and her sister (7 years) have only a COL4A3 mutation and are asymptomatic" "F" "" "Italy" "" "0" "" "" "" "" "00154164" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154165" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154166" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00154167" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154168" "" "" "" "1" "" "00687" "{PMID:Abe 2016:27725546}, {DOI:Abe 2016:10.2169/internalmedicine.55.6873}" "Proband\'s mother, with the same mutatio, has similar EM features, and also haematuria, proteinuria but no renal impairment, no hearing loss, and no ocular abnormalities. Her maternal aunt had an episode of nephritis, but renal biopsy findings were unclear. The HUMARA assay for her and her mother revealed that the X chromosome inactivation pattern was 77:23 and 31:69, respectively" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00154169" "" "" "" "1" "" "00687" "{PMID:Nozu 2014:25333070}, {DOI:Nozu 2014:10.1002/mgg3.89}" "Macrohematuria at 4 months, diagnosed Alport sydnrome at 14 months, renal transplant at 10 from his father. His mother had haematuria and mild proteinuria since early childhood. The 367 nt (part of intron 32 and part of exon 33) deletion resulted in a new exon of 141 nt, the new fusion exon was composed of an Alu-derived sequence of intron 33, 15-nt linker between the AluY and the deletion breakpoint, and the 3\' end of exon 33." "M" "" "Japan" "" "0" "" "" "" "" "00154170" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00154171" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154172" "" "" "" "1" "" "00687" "{PMID:Chiereghin 2017:28570636}, {DOI:Chiereghin 2017:10.1371/journal.pone.0178630}" "proband’s mother presented with microhematuria, proteinuria, hearing loss and normal renal function. The proband’s grandmother only had microhematuria" "M" "" "Italy" "" "0" "" "" "Italian" "" "00154173" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154174" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154175" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "F" "" "" "" "0" "" "" "Europe" "" "00154176" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154177" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother with Alport syndrome" "F" "" "Germany" "" "0" "" "" "" "" "00154178" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154179" "" "" "" "1" "" "00687" "{PMID:Demosthenous 2012:21332469}, {DOI:Demosthenous 2012:10.1111/j.1399-0004.2011.01647.x}" "" "M" "" "Greece" "" "0" "" "" "Greek" "" "00154180" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Maternal uncle with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154181" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and daughter with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154182" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154183" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154184" "" "" "" "1" "" "00687" "" "" "M" "" "Denmark" "" "0" "" "" "white" "" "00154185" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154186" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154187" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154188" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "F" "" "Germany" "" "0" "" "" "" "" "00154189" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother, sister, and maternal grandmother with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154190" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154191" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "F" "" "Germany" "" "0" "" "" "" "" "00154192" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154193" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154194" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "Asian" "" "00154195" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154196" "" "" "" "1" "" "00687" "{PMID:Crespo 2015:25869794}, {DOI:Crespo 2015:10.1136/jclinpath-2015-202953}" "This case illustrates a rare histological manifestation of Alport syndrome, with a different light microscopy pattern from Alport syndrome, with a necrotising and crescentic glomerulonephritis. Thi shas been rarely described" "M" "" "United States" "" "0" "" "" "white" "" "00154197" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154198" "" "" "" "1" "" "00687" "{PMID:Gast 2016:26346198}, {DOI:Gast 2016:10.1093/ndt/gfv325}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00154199" "" "" "" "1" "" "00687" "{PMID:Adam 2014:24944784}, {DOI:Adam 2014:10.1093/ckj/sft144}" "Affected half-brother and brother with the same mutation developed ESRD aged 46 and 57, as well as a sister and mother with renal impairment, but no further clinical or histological features" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00154200" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154201" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154202" "" "" "" "1" "" "00687" "{DOI:de Godoy 2013:10.5935/0034-7280.20160079}" "His mother had an episode of haematuria at the age of 12 years. His aunt and cousin also had haematuria. His paternal grandfather died at the age of 25 years of kidney disease and his maternal uncle died at 40 from an unnown cause. His maternal great grand father had also died of kidney disease at the age of 30. The patient’s brother had hematuria and had a normal ocular examination" "M" "" "Canada" "" "0" "" "" "" "" "00154203" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "F" "" "Germany" "" "0" "" "" "" "" "00154204" "" "" "" "1" "" "00687" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00154205" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154206" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154207" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154208" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00154209" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00154210" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00154211" "" "" "" "1" "" "00687" "{PMID:Nishida 2016:26554353}, {DOI:Nishida 2016:10.1111/ped.12743}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00154212" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154213" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154214" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154215" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154216" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154217" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154218" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154219" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154220" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154221" "" "" "" "1" "" "00687" "" "" "M" "" "Denmark" "" "0" "" "" "white" "" "00154222" "" "" "" "1" "" "00687" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "Grandfather developed ESRD at 20" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00154223" "" "" "" "1" "" "00687" "" "" "M" "" "Denmark" "" "0" "" "" "white" "" "00154224" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154225" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother, two brothers, maternal grandmother, and several maternal uncles with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154226" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154227" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154228" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154229" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154230" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154231" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "His 65 year old father with c.2164G>A; p.Gly722Ser(COL4A4) is asymptomatic. Mutations not detected in his 55 year old asymptomatic mother" "M" "" "" "" "0" "" "" "Europe" "" "00154232" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00154233" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154234" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Father and sister with Alport syndrome" "F" "" "Germany" "" "0" "" "" "" "" "00154235" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154236" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154237" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154238" "" "" "" "1" "" "00687" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00154239" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154240" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "Asian" "" "00154241" "" "" "" "1" "" "00687" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "Mother developed ESRD at 28" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00154242" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154243" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154244" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154245" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154246" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154247" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154248" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154249" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154250" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "M" "" "Germany" "" "0" "" "" "" "" "00154251" "" "" "" "1" "" "00687" "{PMID:Fu 2016:26014433}, {DOI:Fu 2016:10.1038/ejhg.2015.113}" "The proband was diagnosed with XL Alport syndrome with a somatic and gonadal mosaic variant in COL4A5. His daughter had macrohematuria and mild proteinuria (0.2 g/g Cr) when she was 6 years old. Her kidney biopsy demonstrated GBM basket-weave changes and mosaic α5(IV) expression. She has the same heterozygous missense variant at COL4A5 exon 49 (c.4787G4T, p.(Gly1596Val))" "M" "" "Japan" "" "0" "" "" "" "" "00154252" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154253" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and brother with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154254" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother, brother, and sister with Alport syndrome" "M" "" "Turkey" "" "0" "" "" "" "" "00154255" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154256" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154257" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00154258" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154259" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00154260" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "M" "" "Germany" "" "0" "" "" "" "" "00154261" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Two brothers and daughter with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154262" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154263" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00154264" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00154265" "" "" "" "1" "" "00687" "Barker, 1996, Barker, 2001" "" "M" "" "" "" "0" "" "" "" "" "00154266" "" "" "" "1" "" "00687" "Barker, 1996, Barker, 2001" "" "F" "" "" "" "0" "" "" "Northern European" "" "00154267" "" "" "" "1" "" "00687" "" "" "F" "" "Scotland;Sweden" "" "0" "" "" "Scottish, Swedish" "" "00154268" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "" "" "00154269" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00154270" "" "" "" "1" "" "00687" "Knebelmann, 1996" "" "M" "" "Germany" "" "0" "" "" "European" "" "00154271" "" "" "" "1" "" "00687" "Barker, 1996, Barker, 2001" "" "F" "" "" "" "0" "" "" "" "" "00154272" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "" "" "00154273" "" "" "" "1" "" "00687" "Tan, 2010" "" "M" "" "" "" "0" "" "" "" "" "00154274" "" "" "" "1" "" "00687" "Martin, 1998, Hertz, 2001" "" "M" "" "" "" "0" "" "" "Hispanic" "" "00154275" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "Irish/Wales/Germany, Native American" "" "00154276" "" "" "" "1" "" "00687" "Renieri, 1996" "" "F" "" "" "" "0" "" "" "" "" "00154277" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "white" "" "00154278" "" "" "" "1" "" "00687" "" "" "M" "" "" "" "0" "" "" "white, African American" "" "00154279" "" "" "" "1" "" "00687" "Adzhubei, 2010" "" "F" "" "" "" "0" "" "" "white" "" "00154280" "" "" "" "1" "" "00687" "Martin, 2000" "" "M" "" "" "" "0" "" "" "" "" "00154281" "" "" "" "1" "" "00687" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00154282" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "" "" "00154283" "" "" "" "1" "" "00687" "" "" "M" "" "" "" "0" "" "" "Irish/English/Cherokee" "" "00154284" "" "" "" "1" "" "00687" "" "" "M" "" "" "" "0" "" "" "" "" "00154285" "" "" "" "1" "" "00687" "Heiskari, 1996" "" "M" "" "Canada" "" "0" "" "" "French Canadian" "" "00154286" "" "" "" "1" "" "00687" "Barker 1997" "" "F" "" "" "" "0" "" "" "Eastern European" "" "00154287" "" "" "" "1" "" "00687" "" "" "M" "" "India" "" "0" "" "" "Indian" "" "00154288" "" "" "" "1" "" "00687" "Renieri, 1996" "" "M" "" "" "" "0" "" "" "" "" "00154289" "" "" "" "1" "" "00687" "" "" "M" "" "" "" "0" "" "" "" "" "00154290" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "white" "" "00154291" "" "" "" "1" "" "00687" "Barker, 1996, Barker, 2001" "" "M" "" "Germany;England" "" "0" "" "" "English/German" "" "00154292" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "Okinawan, white, Japanese, Chinese, Filipino" "" "00154293" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "Germany, Italy, white" "" "00154294" "" "" "" "1" "" "00687" "" "" "M" "" "Canada" "" "0" "" "" "French Canadian" "" "00154295" "" "" "" "1" "" "00687" "Martin, 1998, Slajpah, 2007, Pierides, 2013" "" "F" "" "" "" "0" "" "" "European, white (Italian, German, Irish, Swedish, Polish)" "" "00154296" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "European, white" "" "00154297" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "European, white" "" "00154298" "" "" "" "1" "" "00687" "Plant, 1999" "" "M" "" "" "" "0" "" "" "" "" "00154299" "" "" "" "1" "" "00687" "Nagel, 2005, Hertz, 2011" "" "F" "" "" "" "0" "" "" "white" "" "00154300" "" "" "" "1" "" "00687" "Gast 2016, Inoue 1999" "" "F" "" "" "" "0" "" "" "" "" "00154301" "" "" "" "1" "" "00687" "Bekheirnia, 2010" "" "F" "" "Canada" "" "0" "" "" "French Canadian" "" "00154302" "" "" "" "1" "" "00687" "" "" "M" "" "Mexico" "" "0" "" "" "Mexican" "" "00154303" "" "" "" "1" "" "00687" "Lemmink, 1997" "" "M" "" "Colombia" "" "0" "" "" "" "" "00154304" "" "" "" "1" "" "00687" "" "" "M" "" "Scotland" "" "0" "" "" "Scottish" "" "00154305" "" "" "" "1" "" "00687" "" "" "M" "" "Guatemala" "" "0" "" "" "Hispanic" "" "00154306" "" "" "" "1" "" "00687" "Barker, 1996, Barker, 2001" "" "F" "" "" "" "0" "" "" "European" "" "00154307" "" "" "" "1" "" "00687" "Cheong, Bekheirnia, 2006" "" "M" "" "" "" "0" "" "" "" "" "00154308" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}, Hertz, 2008" "" "M" "" "Canada" "" "0" "" "" "French Canadian" "" "00154309" "" "" "" "1" "" "00687" "Strasser, 2012, Renieri, 1996" "" "F" "" "" "" "0" "" "" "" "" "00154310" "" "" "" "1" "" "00687" "" "" "M" "" "Mexico" "" "0" "" "" "" "" "00154311" "" "" "" "1" "" "00687" "Martin, 2000" "" "F" "" "" "" "0" "" "" "" "" "00154312" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "" "" "00154313" "" "" "" "1" "" "00687" "Strasser, 2012, Renieri, 1996" "" "M" "" "" "" "0" "" "" "" "" "00154314" "" "" "" "1" "" "00687" "Barker, 2001" "" "M" "" "" "" "0" "" "" "" "" "00154315" "" "" "" "1" "" "00687" "Gast 2016, Inoue 1999" "" "M" "" "" "" "0" "" "" "" "" "00154316" "" "" "" "1" "" "00687" "Kawai, 1996" "" "F" "" "" "" "0" "" "" "" "" "00154317" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "German/Irish, American Indian, Brazilian, French Canadian" "" "00154318" "" "" "" "1" "" "00687" "Barker, 1996, Barker, 2001" "" "M" "" "" "" "0" "" "" "white(German)/Italian" "" "00154319" "" "" "" "1" "" "00687" "" "" "M" "" "" "" "0" "" "" "" "" "00154320" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "" "" "00154321" "" "" "" "1" "" "00687" "" "" "M" "" "" "" "0" "" "" "" "" "00154322" "" "" "" "1" "" "00687" "" "" "M" "" "" "" "0" "" "" "" "" "00154323" "" "" "" "1" "" "00687" "Martin, 1998" "" "M" "" "" "" "0" "" "" "" "" "00154324" "" "" "" "1" "" "00687" "" "" "M" "" "" "" "0" "" "" "" "" "00154325" "" "" "" "1" "" "00687" "Barker et al, 2001, reported as 433+1G>A" "" "F" "" "" "" "0" "" "" "" "" "00154326" "" "" "" "1" "" "00687" "Gast, 2015" "" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi " "" "00154327" "" "" "" "1" "" "00687" "" "" "M" "" "" "" "0" "" "" "" "" "00154328" "" "" "" "1" "" "00687" "Gast, 2015" "" "M" "" "" "" "0" "" "" "" "" "00154329" "" "" "" "1" "" "00687" "Plant, 1999" "" "F" "" "" "" "0" "" "" "" "" "00154330" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "" "" "00154331" "" "" "" "1" "" "00687" "" "" "M" "" "Mexico" "" "0" "" "" "Latino" "" "00154332" "" "" "" "1" "" "00687" "Bekheirnia, 2010, Plant, 1999" "" "M" "" "" "" "0" "" "" "" "" "00154333" "" "" "" "1" "" "00687" "Martin, 1998" "" "M" "" "" "" "0" "" "" "" "" "00154334" "" "" "" "1" "" "00687" "Heiskari, 1996" "" "M" "" "" "" "0" "" "" "" "" "00154335" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "M" "" "" "" "0" "" "" "" "" "00154336" "" "" "" "1" "" "00687" "" "" "M" "" "Germany;Poland" "" "0" "" "" "Jewish-Ashkenazi" "" "00154337" "" "" "" "1" "" "00687" "Barker, 1996, Barker, 2001" "" "M" "" "" "" "0" "" "" "" "" "00154338" "" "" "" "1" "" "00687" "Bekheirnia, 2010" "" "F" "" "" "" "0" "" "" "white" "" "00154339" "" "" "" "1" "" "00687" "Adzhubei, 2010" "" "F" "" "" "" "0" "" "" "white" "" "00154340" "" "" "" "1" "" "00687" "" "" "M" "" "" "" "0" "" "" "" "" "00154341" "" "" "" "1" "" "00687" "Pont-Kingdon, 2009" "" "M" "" "" "" "0" "" "" "" "" "00154342" "" "" "" "1" "" "00687" "Barker, 2001" "" "F" "" "" "" "0" "" "" "" "" "00154343" "" "" "" "1" "" "00687" "" "" "F" "" "United States" "" "0" "" "" "African American" "" "00154344" "" "" "" "1" "" "00687" "Martin, 1998, Slajpah, 2007, Pierides, 2013" "" "M" "" "Poland;Ireland" "" "0" "" "" "Polish/Irish" "" "00154345" "" "" "" "1" "" "00687" "Martin, 1998, Pont-Kingdon, 2009" "" "M" "" "" "" "0" "" "" "German, Norwegian,Swedish" "" "00154346" "" "" "" "1" "" "00687" "Gast, 2015, Inoue, 1999, Hertz, 2009" "" "M" "" "" "" "0" "" "" "" "" "00154347" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "white" "" "00154348" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "" "" "00154349" "" "" "" "1" "" "00687" "Nagel, 2005" "" "M" "" "" "" "0" "" "" "white/Unknown" "" "00154350" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "" "" "00154351" "" "" "" "1" "" "00687" "Barker, 2001" "" "F" "" "" "" "0" "" "" "" "" "00154352" "" "" "" "1" "" "00687" "Martin, 1998, Slajpah, 2007, Pierides, 2013" "" "M" "" "Poland" "" "0" "" "" "Polish" "" "00154353" "" "" "" "1" "" "00687" "" "" "M" "" "Russia" "" "0" "" "" "Jewish-Ashkenazi" "" "00154354" "" "" "" "1" "" "00687" "Renieri, 1996, Zholdybayeva, 2014" "" "F" "" "Mexico" "" "0" "" "" "Mexican" "" "00154355" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "M" "" "" "" "0" "" "" "" "" "00154356" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "" "" "00154357" "" "" "" "1" "" "00687" "Plant, 1999" "" "F" "" "" "" "0" "" "" "NW European" "" "00154358" "" "" "" "1" "" "00687" "King, 2006, Zhou, 1992" "" "F" "" "Scotland" "" "0" "" "" "Scottish" "" "00154359" "" "" "" "1" "" "00687" "" "" "M" "" "" "" "0" "" "" "" "" "00154360" "" "" "" "1" "" "00687" "Bekheirnia, 2010" "" "M" "" "" "" "0" "" "" "White/not Hispanic or Latino" "" "00154361" "" "" "" "1" "" "00687" "Barker, 1996, Barker, 2001" "" "F" "" "" "" "0" "" "" "" "" "00154362" "" "" "" "1" "" "00687" "Gast, 2015, Inoue, 1999" "" "F" "" "" "" "0" "" "" "Jewish;Poland;Germany;Czech" "" "00154363" "" "" "" "1" "" "00687" "Becknell, 2011, Wuttke, 2015" "" "F" "" "Germany" "" "0" "" "" "German" "" "00154364" "" "" "" "1" "" "00687" "Heiskari, 1996, Kovács , 2016" "" "M" "" "" "" "0" "" "" "" "" "00154365" "" "" "" "1" "" "00687" "Barker, Pont-Kingdon" "" "F" "" "" "" "0" "" "" "" "" "00154366" "" "" "" "1" "" "00687" "" "" "F" "" "Mexico" "" "0" "" "" "Mexican" "" "00154367" "" "" "" "1" "" "00687" "" "" "M" "" "" "" "0" "" "" "Northern European" "" "00154368" "" "" "" "1" "" "00687" "Renieri, 1996, Boye, 1995" "" "M" "" "" "" "0" "" "" "" "" "00154369" "" "" "" "1" "" "00687" "Slajpah, 2007" "" "M" "" "" "" "0" "" "" "" "" "00154370" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}, Nozu, 2014" "" "F" "" "Japan" "" "0" "" "" "" "" "00154371" "" "" "" "1" "" "00687" "Moriniere, 2014, Gross, 2002, Inoue, 1999" "" "F" "" "" "" "0" "" "" "white" "" "00154372" "" "" "" "1" "" "00687" "" "" "M" "" "" "" "0" "" "" "Irish, German, Choctaw Native American" "" "00154373" "" "" "" "1" "" "00687" "Netzer, 1993, Martin, 1998" "" "F" "" "" "" "0" "" "" "" "" "00154374" "" "" "" "1" "" "00687" "Wang, 2012" "" "M" "" "" "" "0" "" "" "" "" "00154375" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "white" "" "00154376" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "Hispanic" "" "00154377" "" "" "" "1" "" "00687" "" "" "M" "" "United States" "" "0" "" "" "African American" "" "00173906" "" "" "" "1" "" "01873" "" "" "" "" "Argentina" "" "0" "Marsá Silvana (smarsa @ gmail.com) FQByF UNSL" "" "" "?" "00218099" "" "" "" "1" "" "02476" "" "" "M" "no" "Argentina" "17y" "0" "" "" "white" "" "00226254" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00230590" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 6" "00230591" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "3 Uncles - ESRD at 25y, 23y and 40y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 10" "00230592" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 39" "00230593" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "2 Great-uncles - ESRD at 35y and 51y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 40" "00230594" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Grandfather ESRD at 31y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 65" "00230595" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Great-uncle ESRD at 20y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 93" "00230596" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Grandfather ESRD at 60y\r\nUncle ESRD at 20y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 104" "00230597" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Grandfather ESRD at 51y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 112" "00230598" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 150" "00230599" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Grandfather ESRD at 65y\r\nGreat-uncle ESRD at 60y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 46" "00230600" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Grandfather ESRD at 40y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 146" "00230601" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 111" "00230602" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 121" "00230603" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Somatic mosaic" "M" "" "Japan" "" "0" "" "" "" "Patient ID 14" "00230604" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Somatic mosaic" "M" "" "Japan" "" "0" "" "" "" "Patient ID 52" "00230605" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 3" "00230606" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Uncle ESRD at 17y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 9" "00230607" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Uncle ESRD at 35" "M" "" "Japan" "" "0" "" "" "" "Patient ID 13" "00230608" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 15" "00230609" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 29" "00230610" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 42" "00230611" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 62" "00230612" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 71" "00230613" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 83" "00230614" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 110" "00230615" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Brother ESRD at 24y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 123" "00230616" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Brother ESRD at 18y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 4" "00230617" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 75" "00230618" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Grandfather ESRD at 25y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 81" "00230619" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 88" "00230620" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 132" "00230621" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 23" "00230622" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Uncle ESRD at 65y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 25" "00230623" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 44" "00230624" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Uncle ESRD at 15y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 76" "00230625" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 78" "00230626" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 139" "00230627" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 149" "00230628" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 24" "00230629" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 51" "00230630" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 74" "00230631" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 96" "00230632" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 99" "00230633" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Grandfather ESRD at 24y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 101" "00230634" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 19" "00230635" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 43" "00230636" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 48" "00230637" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 92" "00230638" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "" "M" "" "Japan" "" "0" "" "" "" "Patient ID 126" "00230639" "" "" "" "1" "" "00687" "{PMID:Hashimura 2014:24304881}" "Brother ESRD at 35y" "M" "" "Japan" "" "0" "" "" "" "Patient ID 128" "00245760" "" "" "" "1" "" "03128" "{PMID:Daga 2020:31754267}, {DOI:Daga 2020:10.1038/s41431-019-0537-8}, {PMID:Daga 2024:36653516}, {DOI:Daga 2024:10.1038/s41431-023-01287-y}" "" "F" "no" "Italy" "" "0" "" "" "" "1212/18ats" "00265633" "" "" "" "1" "" "03364" "" "" "M" "no" "Croatia (Hrvatska)" "10y" "0" "{yes" "" "" "03364" "00294928" "" "" "" "96" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296654" "" "" "" "1" "" "02367" "" "" "F" "-" "Czech Republic" "28y" "" "" "" "" "" "00296655" "" "" "" "1" "" "02367" "" "" "M" "-" "Czech Republic" "" "" "" "" "" "" "00296656" "" "" "" "1" "" "02367" "" "" "M" "-" "Czech Republic" "08y" "0" "" "" "" "" "00305263" "" "" "" "63" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305264" "" "" "" "43" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308780" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00325874" "" "" "" "1" "" "03107" "" "" "M" "no" "Japan" "" "" "" "" "" "J210105" "00375239" "" "" "" "1" "" "04087" "" "" "F" "no" "" "" "0" "" "" "" "" "00375240" "" "" "" "1" "" "04087" "" "" "F" "no" "Kosovo" "" "" "" "" "" "" "00375241" "" "" "" "1" "" "04087" "" "" "M" "no" "" "" "" "" "" "" "" "00375242" "" "" "" "1" "" "04087" "" "" "F" "no" "" "" "" "" "" "" "" "00375243" "" "" "" "1" "" "04087" "" "" "F" "no" "" "" "" "" "" "" "" "00376454" "" "" "" "1" "" "04087" "" "" "F" "no" "" "" "" "" "" "" "" "00380226" "" "" "" "1" "" "04152" "" "" "M" "" "Viet Nam" "" "" "" "" "ne" "DRAGoN_50" "00380417" "" "" "" "1" "" "04152" "" "" "" "" "Viet Nam" "" "" "" "" "" "DRAGoN_49" "00380418" "" "" "" "1" "" "04152" "" "" "" "" "Viet Nam" "" "" "" "" "" "DRAGoN_58" "00380419" "" "" "" "1" "" "04152" "" "" "" "" "Viet Nam" "" "" "" "" "" "DRAGoN_6" "00389627" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 388, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "911" "00395044" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "M" "" "(Italy)" "" "0" "" "" "" "K85" "00395045" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "" "" "(Italy)" "" "0" "" "" "" "K100" "00395047" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "" "" "(Italy)" "" "0" "" "" "" "K110" "00395048" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "" "" "(Italy)" "" "0" "" "" "" "K99" "00395049" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "" "" "(Italy)" "" "0" "" "" "" "K121" "00395050" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "" "" "(Italy)" "" "0" "" "" "" "K122" "00401266" "" "" "" "2" "" "00006" "{PMID:Wang 2021:34508137}" "3-generation family, affected mother/daughter, mother" "F" "" "China" "" "0" "" "" "" "Fam2PatII4" "00401267" "" "" "" "1" "" "00006" "{PMID:Wang 2021:34508137}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "China" "" "0" "" "" "" "Fam3PatII1" "00401268" "" "" "" "1" "" "00006" "{PMID:Wang 2021:34508137}," "3-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Fam4PatIII1" "00401269" "" "" "" "1" "" "00006" "{PMID:Wang 2021:34508137}" "3-generation family, affected mother/daughter, mother" "F" "" "China" "" "0" "" "" "" "Fam5PatII2" "00414378" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP45" "00414379" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP46" "00414391" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP58" "00414421" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP88" "00414448" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP115" "00414459" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP126" "00414467" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP134" "00414479" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP146" "00419548" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20080" "00419644" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8036" "00419645" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20134" "00419646" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20186" "00444883" "" "" "" "1" "" "00006" "{PMID:Fan 2020:32883240}" "2-generation family, 1 affected" "" "" "China" "" "0" "" "" "" "Pat9" "00446532" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "family, 1 affected" "M" "" "China" "" "0" "" "" "" "Fam133Pat355" "00446533" "" "" "00446532" "1" "" "00006" "{PMID:Liu 2023:37337769}" "relative" "F" "" "China" "" "0" "" "" "" "Fam133Pat356" "00446899" "" "" "" "12" "" "04609" "" "" "M" "no" "Italy" "" "" "" "" "White" "1292/21" "00451210" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072066" "00451648" "" "" "" "1" "" "04221" "Unpubllished" "Familial case. Co-occurrence of two different monogenic diseases" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-082" "00465468" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465469" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465644" "" "" "" "1" "" "04100" "" "" "F" "?" "China" "" "" "" "" "Asian" "" "00465645" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465646" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465647" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465648" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465649" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465650" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465651" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465652" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465653" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465654" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465655" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465656" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465657" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465658" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465659" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465660" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465661" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465662" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465663" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465664" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465665" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465666" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465667" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465669" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465670" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465671" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465672" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465673" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465674" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465675" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465676" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465677" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465678" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465679" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" "00465680" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465681" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "Asian" "" "00465682" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "" "" "" "Asian" "" ## Individuals_To_Diseases ## Do not 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"01644" "00154309" "01644" "00154310" "01644" "00154311" "01644" "00154312" "01644" "00154313" "01644" "00154314" "01644" "00154315" "01644" "00154316" "01644" "00154317" "01644" "00154318" "01644" "00154319" "01644" "00154320" "01644" "00154321" "01644" "00154322" "01644" "00154323" "01644" "00154324" "01644" "00154325" "01644" "00154326" "01644" "00154327" "01644" "00154328" "01644" "00154329" "01644" "00154330" "01644" "00154331" "01644" "00154332" "01644" "00154333" "01644" "00154334" "01644" "00154335" "01644" "00154336" "01644" "00154337" "01644" "00154338" "01644" "00154339" "01644" "00154340" "01644" "00154341" "01644" "00154342" "01644" "00154343" "01644" "00154344" "01644" "00154345" "01644" "00154346" "01644" "00154347" "01644" "00154348" "01644" "00154349" "01644" "00154350" "01644" "00154351" "01644" "00154352" "01644" "00154353" "01644" "00154354" "01644" "00154355" "01644" "00154356" "01644" "00154357" "01644" "00154358" "01644" "00154359" "01644" "00154360" "01644" "00154361" "01644" "00154362" "01644" "00154363" "01644" "00154364" "01644" "00154365" "01644" "00154366" "01644" "00154367" "01644" "00154368" "01644" "00154369" "01644" "00154370" "01644" "00154371" "01644" "00154372" "01644" "00154373" "01644" "00154374" "01644" "00154375" "01644" "00154376" "01644" "00154377" "01644" "00173906" "05132" "00218099" "00495" "00226254" "02210" "00230590" "05132" "00230591" "05132" "00230592" "05132" "00230593" "05132" "00230594" "05132" "00230595" "05132" "00230596" "05132" "00230597" "05132" "00230598" "05132" "00230599" "05132" "00230600" "05132" "00230601" "05132" "00230602" "05132" "00230603" "05132" "00230604" "05132" "00230605" "05132" "00230606" "05132" "00230607" "05132" "00230608" "05132" "00230609" "05132" "00230610" "05132" "00230611" "05132" "00230612" "05132" "00230613" "05132" "00230614" "05132" "00230615" "05132" "00230616" "05132" "00230617" "05132" "00230618" "05132" "00230619" "05132" "00230620" "05132" "00230621" "05132" "00230622" "05132" "00230623" "05132" "00230624" "05132" "00230625" "05132" "00230626" "05132" "00230627" "05132" "00230628" "05132" "00230629" "05132" "00230630" "05132" "00230631" "05132" "00230632" "05132" "00230633" "05132" "00230634" "05132" "00230635" "05132" "00230636" "05132" "00230637" "05132" "00230638" "05132" "00230639" "05132" "00245760" "01076" "00265633" "02210" "00294928" "00198" "00296654" "05132" "00296655" "05132" "00296656" "05132" "00305263" "00198" "00305264" "00198" "00308780" "00000" "00325874" "05132" "00375239" "01361" "00375240" "02210" "00375241" "02210" "00375242" "02210" "00375243" "02210" "00376454" "02210" "00380226" "00399" "00380417" "00399" "00380418" "00399" "00380419" "00399" "00389627" "04214" "00395044" "04214" "00395045" "04214" "00395047" "04214" "00395048" "04214" "00395049" "04214" "00395050" "04214" "00401266" "05132" "00401267" "05132" "00401268" "05132" "00401269" "05132" "00414378" "00198" "00414379" "00198" "00414391" "00198" "00414421" "00198" "00414448" "00198" "00414459" "00198" "00414467" "00198" "00414479" "00198" "00419548" "00198" "00419644" "00198" "00419645" "00198" "00419646" "00198" "00444883" "00296" "00446532" "00296" "00446533" "00000" "00446899" "01076" "00451210" "04249" "00451648" "01737" "00465468" "05086" "00465469" "05086" "00465644" "02210" "00465645" "02210" "00465646" "02210" "00465647" "02210" "00465648" "02210" "00465649" "02210" "00465650" "02210" "00465651" "02210" "00465652" "02210" "00465653" "02210" "00465654" "02210" "00465655" "02210" "00465656" "02210" "00465657" "02210" "00465658" "02210" "00465659" "02210" "00465660" "02210" "00465661" "02210" "00465662" "02210" "00465663" "02210" "00465664" "02210" "00465665" "02210" "00465666" "02210" "00465667" "02210" "00465669" "02210" "00465670" "02210" "00465671" "02210" "00465672" "02210" "00465673" "02210" "00465674" "02210" "00465675" "02210" "00465676" "02210" "00465677" "02210" "00465678" "02210" "00465679" "02210" "00465680" "02210" "00465681" "02210" "00465682" "02210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00187, 00198, 00296, 00399, 00495, 01076, 01157, 01361, 01644, 01737, 02210, 03381, 04214, 04249, 05086, 05132, 05396 ## Count = 2294 "{{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/Sub_type}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Protein/F8_Ag}}" "{{Phenotype/Protein/F8_C/Stage1}}" "{{Phenotype/Protein/F8_C/Stage2}}" "{{Phenotype/Protein/FAssay_ratio}}" "{{Phenotype/Immunology/Auto_antibodies}}" "{{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" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060480" "02210" "00080911" "01758" "Familial, X-linked" "" "Alport syndrome (OMIM:301050)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070744" "00187" "00092353" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070745" "00187" "00092354" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070746" "00187" "00092355" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070747" "05132" "00092356" "00687" "Unknown" "" "10y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070748" "05132" "00092357" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070749" "05132" "00092358" "00687" "Unknown" "" "GBM pathology + / ?; hearing loss +/-; ocular abnormality +/-; hearing loss; ocular changes; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070750" "05132" "00092359" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070751" "05132" "00092360" "00687" "Unknown" "" "40 / -y renal failure; GBM pathology ? / +; hearing loss +/-; ocular abnormality +/-; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070752" "05132" "00092361" "00687" "Unknown" "" "29y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070753" "05132" "00092362" "00687" "Unknown" "" "30y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070754" "05132" "00092363" "00687" "Unknown" "" "22y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070755" "05132" "00092364" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070756" "05132" "00092365" "00687" "Unknown" "" "hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070757" "05132" "00092366" "00687" "Unknown" "" "34 / >55y renal failure; hearing loss +/+; ocular abnormality +/-; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070758" "05132" "00092367" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070759" "05132" "00092368" "00687" "Unknown" "" "hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070760" "05132" "00092369" "00687" "Unknown" "" "26y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070761" "05132" "00092370" "00687" "Unknown" "" "34 / 45y renal failure; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070762" "05132" "00092371" "00687" "Unknown" "" "21y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070763" "05132" "00092372" "00687" "Unknown" "" "23 / -y renal failure; GBM pathology + / ?; hearing loss +/-; ocular abnormality -/-; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070764" "05132" "00092373" "00687" "Unknown" "" "23y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070765" "05132" "00092374" "00687" "Unknown" "" "hearing loss -/+; ocular abnormality -/-; hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070766" "05132" "00092375" "00687" "Unknown" "" "Mean Age 17.5y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070767" "05132" "00092376" "00687" "Unknown" "" "ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070768" "05132" "00092377" "00687" "Unknown" "" "Mean Age 48y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070769" "05132" "00092378" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070770" "05132" "00092379" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070771" "05132" "00092380" "00687" "Unknown" "" "17y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070772" "05132" "00092381" "00687" "Unknown" "" "30y renal failure; no hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070773" "05132" "00092382" "00687" "Unknown" "" "no hearing loss; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070774" "05132" "00092383" "00687" "Unknown" "" "15y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070775" "05132" "00092384" "00687" "Unknown" "" "hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070776" "05132" "00092385" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070777" "05132" "00092386" "00687" "Unknown" "" "17y renal failure; hearing loss; renal failure, lomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070778" "05132" "00092387" "00687" "Unknown" "" "<30y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070779" "05132" "00092388" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070780" "05132" "00092389" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070781" "05132" "00092390" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070782" "05132" "00092391" "00687" "Unknown" "" "19y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070783" "05132" "00092392" "00687" "Unknown" "" "26y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070784" "05132" "00092393" "00687" "Unknown" "" "19 / -y renal failure; hearing loss +/+; ocular abnormality +/-; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070785" "05132" "00092394" "00687" "Unknown" "" "15 / -y renal failure; hearing loss +/-; ocular abnormality -/+; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070786" "05132" "00092395" "00687" "Unknown" "" "no hearing loss; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070787" "05132" "00092396" "00687" "Unknown" "" "26y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070788" "05132" "00092397" "00687" "Unknown" "" "<30y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070789" "05132" "00092398" "00687" "Unknown" "" "35y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070790" "05132" "00092399" "00687" "Unknown" "" "Mean Age 5y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070791" "05132" "00092400" "00687" "Unknown" "" "17y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070792" "05132" "00092401" "00687" "Unknown" "" ">16 / >51y renal failure; hearing loss +/?; ocular abnormality ?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070793" "05132" "00092402" "00687" "Unknown" "" "33y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070794" "05132" "00092403" "00687" "Unknown" "" "GBM pathology - / +; hearing loss -/-; ocular abnormality -/-; no hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070795" "05132" "00092404" "00687" "Unknown" "" "no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070796" "05132" "00092405" "00687" "Unknown" "" "21y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070797" "05132" "00092406" "00687" "Unknown" "" "hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070798" "05132" "00092407" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070799" "05132" "00092408" "00687" "Unknown" "" "no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070800" "05132" "00092409" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070801" "05132" "00092410" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070802" "05132" "00092411" "00687" "Unknown" "" "20y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070803" "05132" "00092412" "00687" "Unknown" "" "24y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070804" "05132" "00092413" "00687" "Unknown" "" "hearing loss; ocular changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070805" "05132" "00092414" "00687" "Unknown" "" "47y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070806" "05132" "00092415" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070807" "05132" "00092416" "00687" "Familial" "" "29 / 37 / 41y renal failure; hearing loss +/+/+; ocular abnormality ?/?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070808" "05132" "00092417" "00687" "Unknown" "" "41y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070809" "05132" "00092418" "00687" "Unknown" "" "21y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070810" "05132" "00092419" "00687" "Unknown" "" "hearing loss; ocular changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070811" "05132" "00092420" "00687" "Unknown" "" "17y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070812" "05132" "00092421" "00687" "Unknown" "" "no hearing loss; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070813" "05132" "00092422" "00687" "Unknown" "" "23y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070814" "05132" "00092423" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070815" "05132" "00092424" "00687" "Unknown" "" "16 / -y renal failure; hearing loss +/+; ocular abnormality -/-; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070816" "05132" "00092425" "00687" "Unknown" "" "19y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070817" "05132" "00092426" "00687" "Unknown" "" "27y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070818" "05132" "00092427" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070819" "05132" "00092428" "00687" "Unknown" "" "31 / 39y renal failure; hearing loss +/+; ocular abnormality +/+; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070820" "05132" "00092429" "00687" "Unknown" "" "30y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070821" "05132" "00092430" "00687" "Unknown" "" "hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070822" "05132" "00092431" "00687" "Unknown" "" "24y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070823" "05132" "00092432" "00687" "Unknown" "" "23y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070824" "05132" "00092433" "00687" "Unknown" "" ">16y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070825" "05132" "00092434" "00687" "Unknown" "" "26y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070826" "05132" "00092435" "00687" "Unknown" "" "no hearing loss; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070827" "05132" "00092436" "00687" "Unknown" "" "38 / 60y renal failure; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070828" "05132" "00092437" "00687" "Unknown" "" "no hearing loss; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070829" "05132" "00092438" "00687" "Unknown" "" "hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070830" "05132" "00092439" "00687" "Unknown" "" "<30y renal failure; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070831" "05132" "00092440" "00687" "Unknown" "" "hearing loss; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070832" "05132" "00092441" "00687" "Unknown" "" "no renal failure;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070833" "05132" "00092442" "00687" "Unknown" "" "20y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070834" "05132" "00092443" "00687" "Unknown" "" "hearing loss; ocular changes; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070835" "05132" "00092444" "00687" "Unknown" "" "19y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070836" "05132" "00092445" "00687" "Unknown" "" "no renal failure, glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070837" "05132" "00092446" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070838" "05132" "00092447" "00687" "Unknown" "" "27y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070839" "05132" "00092448" "00687" "Unknown" "" "23y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070840" "05132" "00092449" "00687" "Unknown" "" ">30y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070841" "05132" "00092450" "00687" "Unknown" "" "25y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070842" "05132" "00092451" "00687" "Unknown" "" "<30y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070843" "05132" "00092452" "00687" "Unknown" "" "no hearing loss; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070844" "05132" "00092453" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070845" "05132" "00092454" "00687" "Unknown" "" "<30y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070846" "05132" "00092455" "00687" "Unknown" "" "<30y renal failure; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070847" "05132" "00092456" "00687" "Unknown" "" "no hearing loss; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070848" "05132" "00092457" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070849" "05132" "00092458" "00687" "Unknown" "" "36y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070850" "05132" "00092459" "00687" "Unknown" "" "<30y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070851" "05132" "00092460" "00687" "Unknown" "" "33-42y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070852" "05132" "00092461" "00687" "Unknown" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070853" "05132" "00092462" "00687" "Unknown" "" "25y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070854" "05132" "00092463" "00687" "Unknown" "" "<43y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070855" "05132" "00092464" "00687" "Unknown" "" "Mean Age 21y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070856" "05132" "00092465" "00687" "Unknown" "" ">30y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070857" "05132" "00092466" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070858" "05132" "00092467" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070859" "05132" "00092468" "00687" "Unknown" "" "no renal failure, glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070860" "05132" "00092469" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070861" "05132" "00092470" "00687" "Unknown" "" "- / 30y renal failure; hearing loss +/?; ocular abnormality +/?; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070862" "05132" "00092471" "00687" "Unknown" "" "hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070863" "05132" "00092472" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070864" "05132" "00092473" "00687" "Unknown" "" "16y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070865" "05132" "00092474" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070866" "05132" "00092475" "00687" "Unknown" "" "GBM pathology ? / +; hearing loss +/-; ocular abnormality -/-; hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070867" "05132" "00092476" "00687" "Unknown" "" "<30y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070868" "05132" "00092477" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070869" "05132" "00092478" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070870" "05132" "00092479" "00687" "Unknown" "" "hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070871" "05132" "00092480" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070872" "05132" "00092481" "00687" "Unknown" "" ">50y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070873" "05132" "00092482" "00687" "Unknown" "" "ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070874" "05132" "00092483" "00687" "Unknown" "" "hearing loss; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070875" "05132" "00092484" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070876" "05132" "00092485" "00687" "Unknown" "" "no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070877" "05132" "00092486" "00687" "Unknown" "" "hearing loss; ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070878" "05132" "00092487" "00687" "Unknown" "" "Mean Age 37y renal failure; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070879" "05132" "00092488" "00687" "Unknown" "" "hearing loss; ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070880" "05132" "00092489" "00687" "Unknown" "" "Mean Age 26.8y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070881" "05132" "00092490" "00687" "Unknown" "" "17y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070882" "05132" "00092491" "00687" "Unknown" "" "21y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070883" "05132" "00092492" "00687" "Unknown" "" "21y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070884" "05132" "00092493" "00687" "Unknown" "" "hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070885" "05132" "00092494" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070886" "05132" "00092495" "00687" "Unknown" "" "hearing loss; ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070887" "05132" "00092496" "00687" "Unknown" "" "17y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070888" "05132" "00092497" "00687" "Unknown" "" "no hearing loss; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070889" "05132" "00092498" "00687" "Familial" "" "16 / 23 / 39y renal failure; hearing loss +/+/+; ocular abnormality +/+/+; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070890" "05132" "00092499" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070891" "05132" "00092500" "00687" "Unknown" "" "no hearing loss; ocular changes; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070892" "05132" "00092501" "00687" "Unknown" "" "22y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070893" "05132" "00092502" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070894" "05132" "00092503" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070895" "05132" "00092504" "00687" "Unknown" "" "39 / 63y renal failure; hearing loss +/+; ocular abnormality +/+; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070896" "05132" "00092505" "00687" "Unknown" "" "25y renal failure; no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070897" "05132" "00092506" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070898" "05132" "00092507" "00687" "Unknown" "" "20sy renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070899" "05132" "00092508" "00687" "Unknown" "" "32 / -y renal failure; GBM pathology + / +; hearing loss -/-; ocular abnormality -/-; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070900" "05132" "00092509" "00687" "Unknown" "" ">30y renal failure; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070901" "05132" "00092510" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070902" "05132" "00092511" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070903" "05132" "00092512" "00687" "Unknown" "" "<30y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070904" "05132" "00092513" "00687" "Unknown" "" "18y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070905" "05132" "00092514" "00687" "Unknown" "" "22y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070906" "05132" "00092515" "00687" "Unknown" "" "hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070907" "05132" "00092516" "00687" "Unknown" "" "Mean Age 15y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070908" "05132" "00092517" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070909" "05132" "00092518" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070910" "05132" "00092519" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070911" "05132" "00092520" "00687" "Unknown" "" ">30y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070912" "05132" "00092521" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070913" "05132" "00092522" "00687" "Unknown" "" "no hearing loss; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070914" "05132" "00092523" "00687" "Unknown" "" "Mean Age 35y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070915" "05132" "00092524" "00687" "Unknown" "" "16 / 25y renal failure; hearing loss +/+; ocular abnormality -/-; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070916" "05132" "00092525" "00687" "Unknown" "" "23y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070917" "05132" "00092526" "00687" "Unknown" "" "39 / 39y renal failure; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070918" "05132" "00092527" "00687" "Unknown" "" "<30y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070919" "05132" "00092528" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070920" "05132" "00092529" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070921" "05132" "00092530" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070922" "05132" "00092531" "00687" "Unknown" "" "22y renal failure; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070923" "05132" "00092532" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070924" "05132" "00092533" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070925" "05132" "00092534" "00687" "Unknown" "" ">30y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070926" "05132" "00092535" "00687" "Unknown" "" "Mean Age 5y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070927" "05132" "00092536" "00687" "Unknown" "" ">30y renal failure; no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070928" "05132" "00092537" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070929" "05132" "00092538" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070930" "05132" "00092539" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070931" "05132" "00092540" "00687" "Unknown" "" "26y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070932" "05132" "00092541" "00687" "Unknown" "" ">8y renal failure; no hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070933" "05132" "00092542" "00687" "Unknown" "" "hearing loss; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070934" "05132" "00092543" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070935" "05132" "00092544" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070936" "05132" "00092545" "00687" "Unknown" "" "<30y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070937" "05132" "00092546" "00687" "Unknown" "" "16y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070938" "05132" "00092547" "00687" "Unknown" "" "22 / 28y renal failure; hearing loss +/+; ocular abnormality +/+; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070939" "05132" "00092548" "00687" "Unknown" "" "33y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070940" "05132" "00092549" "00687" "Unknown" "" "hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070941" "05132" "00092550" "00687" "Unknown" "" "16y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070942" "05132" "00092551" "00687" "Unknown" "" "21y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070943" "05132" "00092552" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070944" "05132" "00092553" "00687" "Unknown" "" "16y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070945" "05132" "00092554" "00687" "Unknown" "" "14y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070946" "05132" "00092555" "00687" "Unknown" "" "- / 23y renal failure; hearing loss +/?; ocular abnormality -/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070947" "05132" "00092556" "00687" "Unknown" "" ">17y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070948" "05132" "00092557" "00687" "Unknown" "" "15 / ?y renal failure; GBM pathology + / +; hearing loss -/-; ocular abnormality -/-; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070949" "05132" "00092558" "00687" "Unknown" "" "13y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070950" "05132" "00092559" "00687" "Familial" "" ">30y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070951" "05132" "00092560" "00687" "Unknown" "" "Mean Age 11.5y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070952" "05132" "00092561" "00687" "Unknown" "" "27y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070953" "05132" "00092562" "00687" "Unknown" "" "hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070954" "05132" "00092563" "00687" "Familial" "" "38y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070955" "05132" "00092564" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070956" "05132" "00092565" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070957" "05132" "00092566" "00687" "Unknown" "" "hearing loss; ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070958" "05132" "00092567" "00687" "Unknown" "" "26y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070959" "05132" "00092568" "00687" "Unknown" "" "26y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070960" "05132" "00092569" "00687" "Unknown" "" "Mean Age 19y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070961" "05132" "00092570" "00687" "Unknown" "" "17 / -y renal failure; hearing loss +/?; ocular abnormality +/-; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070962" "05132" "00092571" "00687" "Unknown" "" "no hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070963" "05132" "00092572" "00687" "Unknown" "" ">30y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070964" "05132" "00092573" "00687" "Unknown" "" ">30y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070965" "05132" "00092574" "00687" "Unknown" "" "35y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070966" "05132" "00092575" "00687" "Unknown" "" "18y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070967" "05132" "00092576" "00687" "Unknown" "" "hearing loss; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070968" "05132" "00092577" "00687" "Unknown" "" "hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070969" "05132" "00092578" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070970" "05132" "00092579" "00687" "Unknown" "" "31y renal failure; no hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070971" "05132" "00092580" "00687" "Unknown" "" "21y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070972" "05132" "00092581" "00687" "Unknown" "" "20y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070973" "05132" "00092582" "00687" "Unknown" "" "20 / 32y renal failure; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070974" "05132" "00092583" "00687" "Unknown" "" "27 / 44y renal failure; hearing loss +/+; ocular abnormality +/+; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070975" "05132" "00092584" "00687" "Unknown" "" "Mean Age 36y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070976" "05132" "00092585" "00687" "Familial" "" "23 / 24 / 35 / 73y renal failure; hearing loss +/+/+/+; ocular abnormality ?/?/?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070977" "05132" "00092586" "00687" "Unknown" "" "Mean Age 23y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070978" "05132" "00092587" "00687" "Unknown" "" "17y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070979" "05132" "00092588" "00687" "Unknown" "" "30y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070980" "05132" "00092589" "00687" "Unknown" "" "25y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070981" "05132" "00092590" "00687" "Unknown" "" "Mean Age 31.5y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070982" "05132" "00092591" "00687" "Unknown" "" "Mean Age 28y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070983" "05132" "00092592" "00687" "Unknown" "" "28y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070984" "05132" "00092593" "00687" "Unknown" "" "39y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070985" "05132" "00092594" "00687" "Unknown" "" "- / 41y renal failure; hearing loss +/-; ocular abnormality +/-; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070986" "05132" "00092595" "00687" "Unknown" "" "13 / -y renal failure; hearing loss +/-; ocular abnormality +/-; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070987" "05132" "00092596" "00687" "Unknown" "" ">23y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070988" "05132" "00092597" "00687" "Unknown" "" ">35y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070989" "05132" "00092598" "00687" "Unknown" "" "21y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070990" "05132" "00092599" "00687" "Unknown" "" "no hearing loss; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070991" "05132" "00092600" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070992" "05132" "00092601" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070993" "05132" "00092602" "00687" "Unknown" "" "<30y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070994" "05132" "00092603" "00687" "Unknown" "" "22y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070995" "05132" "00092604" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070996" "05132" "00092605" "00687" "Unknown" "" "<30y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070997" "05132" "00092606" "00687" "Unknown" "" "hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070998" "05132" "00092607" "00687" "Unknown" "" "20y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070999" "05132" "00092608" "00687" "Unknown" "" "Mean Age 30.5y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071000" "05132" "00092609" "00687" "Unknown" "" "no hearing loss; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071001" "05132" "00092610" "00687" "Unknown" "" "hearing loss; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071002" "05132" "00092611" "00687" "Unknown" "" "10y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071003" "05132" "00092612" "00687" "Unknown" "" "hearing loss; ocular changes; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071004" "05132" "00092613" "00687" "Unknown" "" "18y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071005" "05132" "00092614" "00687" "Unknown" "" "26 / 58y renal failure; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071006" "05132" "00092615" "00687" "Familial" "" "37.3 / - / - / -y renal failure; hearing loss +/-/-/-; ocular abnormality +/-/-/-; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071007" "05132" "00092616" "00687" "Unknown" "" "no hearing loss; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071008" "05132" "00092617" "00687" "Unknown" "" "33y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071009" "05132" "00092618" "00687" "Unknown" "" "19y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071010" "05132" "00092619" "00687" "Unknown" "" "15y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071011" "05132" "00092620" "00687" "Unknown" "" "14y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071012" "05132" "00092621" "00687" "Unknown" "" "16y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071013" "05132" "00092622" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071014" "05132" "00092623" "00687" "Unknown" "" "12-22yy renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071015" "05132" "00092624" "00687" "Unknown" "" "30 / >75y renal failure; hearing loss ?/-; ocular abnormality ?/?; no hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071016" "05132" "00092625" "00687" "Unknown" "" "21y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071017" "05132" "00092626" "00687" "Unknown" "" "no hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071018" "05132" "00092627" "00687" "Unknown" "" "<30y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071019" "05132" "00092628" "00687" "Unknown" "" "40y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071020" "05132" "00092629" "00687" "Unknown" "" "<30y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071021" "05132" "00092630" "00687" "Unknown" "" "8y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071022" "05132" "00092631" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071023" "05132" "00092632" "00687" "Unknown" "" ">25y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071024" "05132" "00092633" "00687" "Unknown" "" "22y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071025" "05132" "00092634" "00687" "Unknown" "" "27 / 30y renal failure; hearing loss +/+; ocular abnormality +/+; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071026" "05132" "00092635" "00687" "Unknown" "" "24y renal failure; no hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071027" "05132" "00092636" "00687" "Unknown" "" "no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071028" "05132" "00092637" "00687" "Unknown" "" "hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071029" "05132" "00092638" "00687" "Unknown" "" "no hearing loss; ocular changes; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071030" "05132" "00092639" "00687" "Unknown" "" "<40y renal failure; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071031" "05132" "00092640" "00687" "Unknown" "" ">16y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071032" "05132" "00092641" "00687" "Unknown" "" "no hearing loss; ocular changes; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071033" "05132" "00092642" "00687" "Unknown" "" "16y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071034" "05132" "00092643" "00687" "Unknown" "" "hearing loss; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071035" "05132" "00092644" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071036" "05132" "00092645" "00687" "Unknown" "" "21y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071037" "05132" "00092646" "00687" "Unknown" "" "Mean Age 19y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071038" "05132" "00092647" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071039" "05132" "00092648" "00687" "Unknown" "" "21 / -y renal failure; hearing loss +/-; ocular abnormality -/-; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071040" "05132" "00092649" "00687" "Unknown" "" "14y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071041" "05132" "00092650" "00687" "Unknown" "" "15y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071042" "05132" "00092651" "00687" "Unknown" "" "4y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071043" "05132" "00092652" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071044" "05132" "00092653" "00687" "Unknown" "" "<30y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071045" "05132" "00092654" "00687" "Unknown" "" "23y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071046" "05132" "00092655" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071047" "05132" "00092656" "00687" "Unknown" "" "hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071048" "05132" "00092657" "00687" "Unknown" "" "13y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071049" "05132" "00092658" "00687" "Unknown" "" "Mean Age 20y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071050" "05132" "00092659" "00687" "Unknown" "" "30y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071051" "05132" "00092660" "00687" "Unknown" "" "31y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071052" "05132" "00092661" "00687" "Unknown" "" "21y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071053" "05132" "00092662" "00687" "Unknown" "" "Mean Age 20y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071054" "05132" "00092663" "00687" "Unknown" "" "no hearing loss; ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071055" "05132" "00092664" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071056" "05132" "00092665" "00687" "Unknown" "" "22y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071057" "05132" "00092666" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071058" "05132" "00092667" "00687" "Unknown" "" "12-15yy renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071059" "05132" "00092668" "00687" "Unknown" "" "hearing loss; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071060" "05132" "00092669" "00687" "Unknown" "" "no renal failure;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071061" "05132" "00092670" "00687" "Unknown" "" "Mean Age 16 / 28y renal failure; hearing loss +/+; ocular abnormality +/-; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071062" "05132" "00092671" "00687" "Unknown" "" ">9y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071063" "05132" "00092672" "00687" "Unknown" "" "30y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071064" "05132" "00092673" "00687" "Unknown" "" "47y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071065" "05132" "00092674" "00687" "Unknown" "" "17 / 19y renal failure; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071066" "05132" "00092675" "00687" "Unknown" "" ">19 / -y renal failure; GBM pathology + / ?; hearing loss +/-; ocular abnormality -/-; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071067" "05132" "00092676" "00687" "Unknown" "" "22y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071068" "05132" "00092677" "00687" "Unknown" "" "19 / -y renal failure; hearing loss +/-; ocular abnormality -/-; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071069" "05132" "00092678" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071070" "05132" "00092679" "00687" "Unknown" "" "Mean Age 22 / >63y renal failure; hearing loss +/+; ocular abnormality +/?; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071071" "05132" "00092680" "00687" "Unknown" "" "hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071072" "05132" "00092681" "00687" "Unknown" "" "Mean Age 18.5y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071073" "05132" "00092682" "00687" "Unknown" "" "20 / 50y renal failure; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071074" "05132" "00092683" "00687" "Unknown" "" "13 / ?y renal failure; GBM pathology + / +; hearing loss +/?; ocular abnormality ?/?; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071075" "05132" "00092684" "00687" "Unknown" "" "28y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071076" "05132" "00092685" "00687" "Unknown" "" "- / 26y renal failure; hearing loss +/-; ocular abnormality -/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071077" "05132" "00092686" "00687" "Unknown" "" "19y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071078" "05132" "00092687" "00687" "Unknown" "" "16y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071079" "05132" "00092688" "00687" "Familial" "" "16 / 20 / 24y renal failure; hearing loss +/+/+; ocular abnormality -/-/-; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071080" "05132" "00092689" "00687" "Unknown" "" "23y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071081" "05132" "00092690" "00687" "Unknown" "" ">30y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071082" "05132" "00092691" "00687" "Unknown" "" "<38y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071083" "05132" "00092692" "00687" "Unknown" "" "12 / -y renal failure; hearing loss +/+; ocular abnormality -/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071084" "05132" "00092693" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071085" "05132" "00092694" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071086" "05132" "00092695" "00687" "Unknown" "" "hearing loss; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071087" "05132" "00092696" "00687" "Familial" "" "21.9 / - / - / -y renal failure; GBM pathology + / ? / ? / ?; hearing loss +/-/-/-; ocular abnormality -/-/-/-; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071088" "05132" "00092697" "00687" "Unknown" "" "18y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071089" "05132" "00092698" "00687" "Unknown" "" "17 / 23y renal failure; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071090" "05132" "00092699" "00687" "Unknown" "" "27y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071091" "05132" "00092700" "00687" "Unknown" "" "hearing loss; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071092" "05132" "00092701" "00687" "Unknown" "" "26y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071093" "05132" "00092702" "00687" "Unknown" "" ">19 / -y renal failure; hearing loss +/-; ocular abnormality +/?; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071094" "05132" "00092703" "00687" "Unknown" "" "23 / 30y renal failure; hearing loss +/+; ocular abnormality +/+; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071095" "05132" "00092704" "00687" "Unknown" "" "20y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071096" "05132" "00092705" "00687" "Unknown" "" "19 / 72y renal failure; hearing loss +/+; ocular abnormality +/+; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071097" "05132" "00092706" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071098" "05132" "00092707" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071099" "05132" "00092708" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071100" "05132" "00092709" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071101" "05132" "00092710" "00687" "Unknown" "" "hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071102" "05132" "00092711" "00687" "Unknown" "" "12-39yy renal failure; hearing loss +/+; ocular abnormality -/-; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071103" "05132" "00092712" "00687" "Unknown" "" "12y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071104" "05132" "00092713" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071105" "05132" "00092714" "00687" "Unknown" "" ">30y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071107" "05132" "00092716" "00687" "Unknown" "" "18y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071108" "05132" "00092717" "00687" "Familial" "" "25 / 30 / 50y renal failure; hearing loss +/+/+; ocular abnormality +/+/+; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071109" "05132" "00092718" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071110" "05132" "00092719" "00687" "Unknown" "" "hearing loss +/+; ocular abnormality -/-; hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071111" "05132" "00092720" "00687" "Unknown" "" "20 / 55y renal failure; hearing loss +/+; ocular abnormality +/+; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071112" "05132" "00092721" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071113" "05132" "00092722" "00687" "Unknown" "" "22y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071114" "05132" "00092723" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071115" "05132" "00092724" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071116" "05132" "00092725" "00687" "Unknown" "" "hearing loss +/-; ocular abnormality +/-; hearing loss; ocular changes; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071117" "05132" "00092726" "00687" "Unknown" "" "17y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071118" "05132" "00092727" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071119" "05132" "00092728" "00687" "Unknown" "" "25y renal failure; hearing loss; ocular changes; renal failure, lomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071120" "05132" "00092729" "00687" "Unknown" "" "hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071121" "05132" "00092730" "00687" "Unknown" "" "15y renal failure; no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071122" "05132" "00092731" "00687" "Unknown" "" "25y renal failure; hearing loss; ocular changes; renal failure, lomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071123" "05132" "00092732" "00687" "Unknown" "" "hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071124" "05132" "00092733" "00687" "Unknown" "" "20y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071125" "05132" "00092734" "00687" "Unknown" "" "19 / 20y renal failure; GBM pathology + / +; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071126" "05132" "00092735" "00687" "Unknown" "" "30y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071127" "05132" "00092736" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071128" "05132" "00092737" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071129" "05132" "00092738" "00687" "Unknown" "" ">30y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071130" "05132" "00092739" "00687" "Unknown" "" ">30y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071131" "05132" "00092740" "00687" "Unknown" "" "hearing loss; ocular changes; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071132" "05132" "00092741" "00687" "Unknown" "" "22y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071133" "05132" "00092742" "00687" "Unknown" "" "13y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071134" "05132" "00092743" "00687" "Unknown" "" "hearing loss; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071135" "05132" "00092744" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071136" "05132" "00092745" "00687" "Unknown" "" "<30y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071137" "05132" "00092746" "00687" "Unknown" "" "33y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071138" "05132" "00092747" "00687" "Unknown" "" "hearing loss; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071139" "00000" "00092748" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071140" "00000" "00092749" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071141" "00000" "00092750" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071142" "00000" "00092751" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071143" "00000" "00092752" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071144" "00000" "00092753" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071145" "00000" "00092754" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071146" "00000" "00092755" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071147" "00000" "00092756" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071148" "00000" "00092757" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071149" "00000" "00092758" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071150" "00000" "00092759" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071151" "00000" "00092760" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071152" "00000" "00092761" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071153" "00000" "00092762" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071154" "00000" "00092763" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071155" "00000" "00092764" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071156" "00000" "00092765" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071157" "00000" "00092766" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071158" "00000" "00092767" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071159" "00000" "00092768" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071162" "05132" "00092771" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071163" "05132" "00092772" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071164" "05132" "00092773" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071165" "05132" "00092774" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071166" "05132" "00092775" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071168" "05132" "00092777" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071170" "05132" "00092779" "00687" "Unknown" "" "hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071172" "05132" "00092781" "00687" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071174" "05132" "00092783" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071175" "05132" "00092784" "00687" "Unknown" "" "29y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071176" "05132" "00092785" "00687" "Unknown" "" "47 / 74y renal failure; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071177" "05132" "00092786" "00687" "Unknown" "" "35 / 67y renal failure; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071178" "05132" "00092787" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071179" "05132" "00092788" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071180" "05132" "00092789" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071185" "05132" "00092794" "00687" "Unknown" "" "31y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071187" "05132" "00092796" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071188" "05132" "00092797" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071189" "05132" "00092798" "00687" "Familial" "" "- / + / + / + / + y renal failure; GBM pathology + / ? / ? / + / + ; hearing loss +/+/+/+/+ ; ocular abnormality ?/?/?/-/? ; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071190" "05132" "00092799" "00687" "Unknown" "" "10 / -y renal failure; hearing loss -/-; ocular abnormality -/-; no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071192" "05132" "00092801" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071193" "05132" "00092802" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071194" "05132" "00092803" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071195" "05132" "00092804" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071196" "05132" "00092805" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071197" "05132" "00092806" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071199" "05132" "00092808" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071200" "05132" "00092809" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071201" "05132" "00092810" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071202" "05132" "00092811" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071203" "05132" "00092812" "00687" "Unknown" "" "hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071204" "05132" "00092813" "00687" "Unknown" "" "23y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071205" "05132" "00092814" "00687" "Unknown" "" "Mean Age 25y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071206" "05132" "00092815" "00687" "Unknown" "" "29y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071207" "05132" "00092816" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071208" "05132" "00092817" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071209" "05132" "00092818" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071210" "05132" "00092819" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071211" "05132" "00092820" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071212" "05132" "00092821" "00687" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071213" "05132" "00092822" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071214" "05132" "00092823" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071215" "05132" "00092824" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071216" "05132" "00092825" "00687" "Unknown" "" "19y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071218" "05132" "00092827" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071221" "05132" "00092830" "00687" "Familial" "" "19 / 45 / 50y renal failure; hearing loss +/+/+; ocular abnormality +/+/+; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071222" "05132" "00092831" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071223" "05132" "00092832" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071224" "05132" "00092833" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071225" "05132" "00092834" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071226" "05132" "00092835" "00687" "Unknown" "" "Mean Age 27 / 47y renal failure; hearing loss +/+; ocular abnormality -/-; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071229" "05132" "00092838" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071230" "05132" "00092839" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071233" "05132" "00092842" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071235" "05132" "00092844" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071236" "05132" "00092845" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071237" "05132" "00092846" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071239" "05132" "00092848" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071241" "05132" "00092850" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071242" "05132" "00092851" "00687" "Familial" "" "? / ? / 16y renal failure; GBM pathology + / - / + ; hearing loss +/-/- ; ocular abnormality -/-/+ ; hearing loss; ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071243" "05132" "00092852" "00687" "Unknown" "" "17y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071244" "05132" "00092853" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071245" "05132" "00092854" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071246" "05132" "00092855" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071247" "05132" "00092856" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071248" "05132" "00092857" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071249" "05132" "00092858" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071250" "00000" "00092859" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071251" "00000" "00092860" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071252" "00000" "00092861" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071253" "00000" "00092862" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071254" "00000" "00092863" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071255" "00000" "00092864" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071256" "00000" "00092865" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071257" "00000" "00092866" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071258" "00000" "00092867" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071259" "00000" "00092868" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071260" "00000" "00092869" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071261" "00000" "00092870" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071262" "00000" "00092871" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071263" "00000" "00092872" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071264" "00000" "00092873" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071265" "00000" "00092874" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071266" "00000" "00092875" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071267" "00000" "00092876" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071268" "00000" "00092877" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071269" "00000" "00092878" "00687" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071270" "00000" "00092879" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071271" "05132" "00092880" "00687" "Unknown" "" "20-26y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071272" "05132" "00092881" "00687" "Unknown" "" "28 / -y renal failure; hearing loss ?/-; ocular abnormality +/-; no hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071273" "05132" "00092882" "00687" "Unknown" "" "18y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071274" "05132" "00092883" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071275" "05132" "00092884" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071276" "00198" "00092885" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071277" "00198" "00092886" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071278" "00198" "00092887" "00687" "Unknown" "" "24y renal failure; no hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071279" "00198" "00092888" "00687" "Unknown" "" "hearing loss; ocular changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071280" "00198" "00092889" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071281" "00198" "00092890" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071282" "00198" "00092891" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071283" "00198" "00092892" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071284" "00198" "00092893" "00687" "Unknown" "" "hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071285" "00198" "00092894" "00687" "Unknown" "" "hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071286" "00198" "00092895" "00687" "Unknown" "" "hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071287" "00198" "00092896" "00687" "Unknown" "" "BFH" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071288" "00198" "00092897" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071289" "00198" "00092898" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071290" "00198" "00092899" "00687" "Unknown" "" "no hearing loss; ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071291" "00198" "00092900" "00687" "Unknown" "" "30y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071292" "00198" "00092901" "00687" "Unknown" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071293" "00198" "00092902" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071294" "00198" "00092903" "00687" "Unknown" "" "hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071295" "00198" "00092904" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071296" "00198" "00092905" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071297" "00198" "00092906" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071298" "05132" "00092907" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071299" "05132" "00092908" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071300" "05132" "00092909" "00687" "Unknown" "" "26y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071301" "05132" "00092910" "00687" "Unknown" "" "43y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071302" "05132" "00092911" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071303" "05132" "00092912" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071304" "05132" "00092913" "00687" "Unknown" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071305" "05132" "00092914" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071306" "05132" "00092915" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071307" "05132" "00092916" "00687" "Familial" "" "32 / - / - y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071308" "05132" "00092917" "00687" "Familial" "" "45y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071309" "05132" "00092918" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071310" "05132" "00092919" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071311" "05132" "00092920" "00687" "Unknown" "" "23y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071312" "05132" "00092921" "00687" "Unknown" "" "no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071313" "05132" "00092922" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071314" "05132" "00092923" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071315" "05132" "00092924" "00687" "Unknown" "" "26y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071316" "05132" "00092925" "00687" "Unknown" "" "18y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071317" "05132" "00092926" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071318" "05132" "00092927" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071319" "05132" "00092928" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071320" "05132" "00092929" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071321" "05132" "00092930" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071322" "05132" "00092931" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071323" "05132" "00092932" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071324" "05132" "00092933" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071325" "05132" "00092934" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071326" "05132" "00092935" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071327" "05132" "00092936" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071328" "05132" "00092937" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071329" "05132" "00092938" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071330" "05132" "00092939" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071331" "05132" "00092940" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071332" "05132" "00092941" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071333" "05132" "00092942" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071334" "05132" "00092943" "00687" "Unknown" "" "hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071335" "05132" "00092944" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071336" "05132" "00092945" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071337" "05132" "00092946" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071338" "05132" "00092947" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071339" "05132" "00092948" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071340" "05132" "00092949" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071341" "05132" "00092950" "00687" "Unknown" "" "23y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071342" "05132" "00092951" "00687" "Unknown" "" "36y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071343" "05132" "00092952" "00687" "Unknown" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071344" "05132" "00092953" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071345" "05132" "00092954" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071346" "05132" "00092955" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071347" "05132" "00092956" "00687" "Unknown" "" "no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071348" "05132" "00092957" "00687" "Unknown" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071349" "05132" "00092958" "00687" "Familial" "" "Mean Age 32y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071350" "05132" "00092959" "00687" "Unknown" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071351" "05132" "00092960" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071352" "05132" "00092961" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071353" "05132" "00092962" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071354" "05132" "00092963" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071355" "05132" "00092964" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071356" "05132" "00092965" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071357" "05132" "00092966" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071358" "05132" "00092967" "00687" "Unknown" "" "no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071359" "05132" "00092968" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071360" "05132" "00092969" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071361" "05132" "00092970" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071362" "05132" "00092971" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071363" "05132" "00092972" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071364" "05132" "00092973" "00687" "Unknown" "" "21yy renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071365" "05132" "00092974" "00687" "Unknown" "" "no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071366" "05132" "00092975" "00687" "Unknown" "" "25y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071367" "05132" "00092976" "00687" "Unknown" "" "no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071368" "05132" "00092977" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071369" "05132" "00092978" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071370" "05132" "00092979" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071371" "05132" "00092980" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071372" "05132" "00092981" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071374" "05132" "00092983" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071375" "05132" "00092984" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071376" "05132" "00092985" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071377" "05132" "00092986" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071379" "05132" "00092988" "00687" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071380" "05132" "00092989" "00687" "Unknown" "" "33y renal failure; no hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071381" "05132" "00092990" "00687" "Familial" "" "Mean age 42y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071382" "05132" "00092991" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071383" "05132" "00092992" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071384" "05132" "00092993" "00687" "Familial" "" "17 / 31y renal failure; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071385" "05132" "00092994" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071386" "05132" "00092995" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071387" "05132" "00092996" "00687" "Familial" "" "Mean age 34.5y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071388" "05132" "00092997" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071389" "05132" "00092998" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071390" "05132" "00092999" "00687" "Unknown" "" ">31y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071391" "05132" "00093000" "00687" "Familial" "" "36y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071392" "05132" "00093001" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071393" "05132" "00093002" "00687" "Unknown" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071394" "05132" "00093003" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071395" "05132" "00093004" "00687" "Unknown" "" "31y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071396" "05132" "00093005" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071397" "05132" "00093006" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071398" "05132" "00093007" "00687" "Unknown" "" "no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071399" "05132" "00093008" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071400" "05132" "00093009" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071401" "05132" "00093010" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071402" "05132" "00093011" "00687" "Unknown" "" "hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071403" "05132" "00093012" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071404" "05132" "00093013" "00687" "Unknown" "" "25y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071405" "05132" "00093014" "00687" "Unknown" "" "44y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071406" "05132" "00093015" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071407" "05132" "00093016" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071408" "05132" "00093017" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071409" "05132" "00093018" "00687" "Unknown" "" "20y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071410" "05132" "00093019" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071411" "05132" "00093020" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071412" "05132" "00093021" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071413" "05132" "00093022" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071414" "05132" "00093023" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071415" "05132" "00093024" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071416" "05132" "00093025" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071417" "05132" "00093026" "00687" "Unknown" "" "hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071418" "05132" "00093027" "00687" "Unknown" "" "24y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071419" "05132" "00093028" "00687" "Unknown" "" "24y renal failure; no hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071420" "05132" "00093029" "00687" "Unknown" "" ">30y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071421" "05132" "00093030" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071422" "05132" "00093031" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071423" "05132" "00093032" "00687" "Unknown" "" "28y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071424" "05132" "00093033" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071425" "05132" "00093034" "00687" "Unknown" "" "26y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071426" "05132" "00093035" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071427" "05132" "00093036" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071428" "05132" "00093037" "00687" "Unknown" "" "19y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071429" "05132" "00093038" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071430" "05132" "00093039" "00687" "Unknown" "" "18y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071431" "05132" "00093040" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071432" "05132" "00093041" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071433" "05132" "00093042" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071434" "05132" "00093043" "00687" "Unknown" "" "24y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071435" "05132" "00093044" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071436" "05132" "00093045" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071437" "05132" "00093046" "00687" "Unknown" "" "haematuria and proteinuria since elementary scholl. Kidney biopsy at 11 y and diagnosed with IgA nephropathy. serious proteinuria, normal serum albumin and normal renal function at 40y; Son had haematuria and proteinuria at 1 yr. kidney biopsy at 5yr showed GBM abnormalities, and negative staining for a5 chain.; no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071438" "05132" "00093047" "00687" "Unknown" "" "26y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071439" "05132" "00093048" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071440" "05132" "00093049" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071441" "05132" "00093050" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071442" "05132" "00093051" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071443" "05132" "00093052" "00687" "Unknown" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071444" "05132" "00093053" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071445" "05132" "00093054" "00687" "Familial" "" "14-60y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071446" "05132" "00093055" "00687" "Unknown" "" "15-25y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071447" "05132" "00093056" "00687" "Unknown" "" "hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071448" "05132" "00093057" "00687" "Unknown" "" "16-36y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071449" "05132" "00093058" "00687" "Unknown" "" "44y renal failure; no hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071450" "05132" "00093059" "00687" "Unknown" "" "17-24y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071451" "05132" "00093060" "00687" "Unknown" "" "38y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071452" "05132" "00093061" "00687" "Unknown" "" "32-33y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071453" "05132" "00093062" "00687" "Unknown" "" "20-32y renal failure; no hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071454" "05132" "00093063" "00687" "Unknown" "" "hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071455" "05132" "00093064" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071456" "05132" "00093065" "00687" "Unknown" "" "42y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071457" "05132" "00093066" "00687" "Unknown" "" "15-19y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071458" "05132" "00093067" "00687" "Unknown" "" "20y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071459" "05132" "00093068" "00687" "Unknown" "" "16-33y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071460" "05132" "00093069" "00687" "Unknown" "" "renal failure;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071461" "05132" "00093070" "00687" "Unknown" "" "20y renal failure; no hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071462" "05132" "00093071" "00687" "Unknown" "" "25-38y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071463" "05132" "00093072" "00687" "Unknown" "" "26y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071464" "05132" "00093073" "00687" "Unknown" "" "47y renal failure; no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071465" "05132" "00093074" "00687" "Unknown" "" "18-21y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071466" "05132" "00093075" "00687" "Unknown" "" "27y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071467" "05132" "00093076" "00687" "Unknown" "" "hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071468" "05132" "00093077" "00687" "Unknown" "" "hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071469" "05132" "00093078" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071470" "05132" "00093079" "00687" "Unknown" "" "hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071471" "05132" "00093080" "00687" "Unknown" "" "hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071472" "05132" "00093081" "00687" "Unknown" "" "20y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071473" "05132" "00093082" "00687" "Unknown" "" "24-30y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071474" "05132" "00093083" "00687" "Unknown" "" "hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071475" "05132" "00093084" "00687" "Unknown" "" "25-44y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071476" "05132" "00093085" "00687" "Unknown" "" "21-32y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071477" "05132" "00093086" "00687" "Unknown" "" "13y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071478" "05132" "00093087" "00687" "Unknown" "" "15-40y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071479" "05132" "00093088" "00687" "Unknown" "" "hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071480" "05132" "00093089" "00687" "Unknown" "" "19y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071481" "05132" "00093090" "00687" "Unknown" "" "hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071482" "05132" "00093091" "00687" "Unknown" "" "20y renal failure; no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071483" "05132" "00093092" "00687" "Unknown" "" "hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071484" "05132" "00093093" "00687" "Unknown" "" "hearing loss; ocular changes; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071485" "05132" "00093094" "00687" "Unknown" "" "20y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071486" "05132" "00093095" "00687" "Unknown" "" "22y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071487" "05132" "00093096" "00687" "Unknown" "" "44y renal failure; no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071488" "05132" "00093097" "00687" "Unknown" "" "16y renal failure; no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071489" "05132" "00093098" "00687" "Unknown" "" "hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071490" "05132" "00093099" "00687" "Unknown" "" "27y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071491" "05132" "00093100" "00687" "Unknown" "" "17y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071492" "05132" "00093101" "00687" "Unknown" "" "23y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071493" "05132" "00093102" "00687" "Unknown" "" "hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071494" "05132" "00093103" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071495" "05132" "00093104" "00687" "Unknown" "" "hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071496" "05132" "00093105" "00687" "Unknown" "" "28-31y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071497" "05132" "00093106" "00687" "Unknown" "" "28y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071498" "05132" "00093107" "00687" "Unknown" "" "18y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071499" "05132" "00093108" "00687" "Unknown" "" "19-26y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071500" "05132" "00093109" "00687" "Unknown" "" "17-19y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071501" "05132" "00093110" "00687" "Unknown" "" "20-35y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071502" "05132" "00093111" "00687" "Unknown" "" "16-22y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071503" "05132" "00093112" "00687" "Unknown" "" "17y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071504" "05132" "00093113" "00687" "Unknown" "" "20y renal failure; no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071505" "05132" "00093114" "00687" "Unknown" "" "22y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071506" "05132" "00093115" "00687" "Unknown" "" "14y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071507" "05132" "00093116" "00687" "Unknown" "" "hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071508" "05132" "00093117" "00687" "Unknown" "" "hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071509" "05132" "00093118" "00687" "Unknown" "" "hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071510" "05132" "00093119" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071511" "05132" "00093120" "00687" "Unknown" "" "11y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071512" "05132" "00093121" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071513" "05132" "00093122" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071514" "05132" "00093123" "00687" "Unknown" "" "24y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071515" "05132" "00093124" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071516" "05132" "00093125" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071517" "05132" "00093126" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071518" "05132" "00093127" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071519" "05132" "00093128" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071520" "05132" "00093129" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071521" "05132" "00093130" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071522" "05132" "00093131" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071523" "05132" "00093132" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071524" "05132" "00093133" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071525" "05132" "00093134" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071526" "05132" "00093135" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071527" "05132" "00093136" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071528" "05132" "00093137" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071529" "05132" "00093138" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071530" "05132" "00093139" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071531" "05132" "00093140" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071532" "05132" "00093141" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071533" "05132" "00093142" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071535" "05132" "00093144" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071536" "05132" "00093145" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071537" "05132" "00093146" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071538" "05132" "00093147" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071539" "05132" "00093148" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071540" "05132" "00093149" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071541" "05132" "00093150" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071542" "05132" "00093151" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071543" "05132" "00093152" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071544" "05132" "00093153" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071545" "05132" "00093154" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071546" "05132" "00093155" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071547" "05132" "00093156" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071548" "05132" "00093157" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071549" "05132" "00093158" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071550" "05132" "00093159" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071551" "05132" "00093160" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071552" "05132" "00093161" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071553" "05132" "00093162" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071554" "05132" "00093163" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071555" "05132" "00093164" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071556" "05132" "00093165" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071557" "05132" "00093166" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071558" "05132" "00093167" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071559" "05132" "00093168" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071560" "05132" "00093169" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071561" "05132" "00093170" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071562" "05132" "00093171" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071563" "05132" "00093172" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071564" "05132" "00093173" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071565" "05132" "00093174" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071566" "05132" "00093175" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071567" "05132" "00093176" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071568" "05132" "00093177" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071569" "05132" "00093178" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071570" "05132" "00093179" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071571" "05132" "00093180" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071572" "05132" "00093181" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071573" "05132" "00093182" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071574" "05132" "00093183" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071575" "05132" "00093184" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071576" "05132" "00093185" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071577" "05132" "00093186" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071578" "05132" "00093187" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071579" "05132" "00093188" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071580" "05132" "00093189" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071581" "05132" "00093190" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071582" "05132" "00093191" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071583" "05132" "00093192" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071584" "05132" "00093193" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071585" "05132" "00093194" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071586" "05132" "00093195" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071587" "05132" "00093196" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071588" "05132" "00093197" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071589" "05132" "00093198" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071590" "05132" "00093199" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071591" "05132" "00093200" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071592" "05132" "00093201" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071593" "05132" "00093202" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071594" "05132" "00093203" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071595" "05132" "00093204" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071596" "05132" "00093205" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071597" "05132" "00093206" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071598" "05132" "00093207" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071599" "05132" "00093208" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071600" "05132" "00093209" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071601" "05132" "00093210" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071602" "05132" "00093211" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071603" "05132" "00093212" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071604" "05132" "00093213" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071605" "05132" "00093214" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071606" "05132" "00093215" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071607" "05132" "00093216" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071608" "05132" "00093217" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071609" "05132" "00093218" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071610" "05132" "00093219" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071611" "05132" "00093220" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071612" "05132" "00093221" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071613" "05132" "00093222" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071614" "05132" "00093223" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071615" "05132" "00093224" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071616" "05132" "00093225" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071617" "05132" "00093226" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071618" "05132" "00093227" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071619" "05132" "00093228" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071620" "05132" "00093229" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071621" "05132" "00093230" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071622" "05132" "00093231" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071623" "05132" "00093232" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071624" "05132" "00093233" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071625" "05132" "00093234" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071626" "05132" "00093235" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071627" "05132" "00093236" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071628" "05132" "00093237" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071629" "05132" "00093238" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071630" "05132" "00093239" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071631" "05132" "00093240" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071632" "05132" "00093241" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071633" "05132" "00093242" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071634" "05132" "00093243" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071635" "05132" "00093244" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071636" "05132" "00093245" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071637" "05132" "00093246" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071638" "05132" "00093247" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071639" "05132" "00093248" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071640" "05132" "00093249" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071641" "05132" "00093250" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071642" "05132" "00093251" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071643" "05132" "00093252" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071644" "05132" "00093253" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071645" "05132" "00093254" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071646" "05132" "00093255" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071647" "05132" "00093256" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071648" "05132" "00093257" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071649" "05132" "00093258" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071650" "05132" "00093259" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071651" "05132" "00093260" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071652" "05132" "00093261" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071653" "05132" "00093262" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071654" "05132" "00093263" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071655" "05132" "00093264" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071656" "05132" "00093265" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071657" "05132" "00093266" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071658" "05132" "00093267" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071659" "05132" "00093268" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071660" "05132" "00093269" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071661" "05132" "00093270" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071662" "05132" "00093271" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071663" "05132" "00093272" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071664" "05132" "00093273" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071665" "05132" "00093274" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071666" "05132" "00093275" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071667" "05132" "00093276" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071668" "05132" "00093277" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071669" "05132" "00093278" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071670" "05132" "00093279" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071671" "05132" "00093280" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071672" "05132" "00093281" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071673" "05132" "00093282" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071674" "05132" "00093283" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071675" "05132" "00093284" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071676" "05132" "00093285" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071677" "05132" "00093286" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071678" "05132" "00093287" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071679" "05132" "00093288" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071680" "05132" "00093289" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071681" "05132" "00093290" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071682" "05132" "00093291" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071683" "05132" "00093292" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071684" "05132" "00093293" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071685" "05132" "00093294" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071686" "05132" "00093295" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071687" "05132" "00093296" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071688" "05132" "00093297" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071689" "05132" "00093298" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071690" "05132" "00093299" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071691" "05132" "00093300" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071692" "05132" "00093301" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071693" "05132" "00093302" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071694" "05132" "00093303" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071695" "05132" "00093304" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071696" "05132" "00093305" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071697" "05132" "00093306" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071698" "05132" "00093307" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071699" "05132" "00093308" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071700" "05132" "00093309" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071701" "05132" "00093310" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071702" "05132" "00093311" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071703" "05132" "00093312" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071704" "05132" "00093313" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071705" "05132" "00093314" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071706" "05132" "00093315" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071707" "05132" "00093316" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071708" "05132" "00093317" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071709" "05132" "00093318" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071710" "05132" "00093319" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071711" "05132" "00093320" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071712" "05132" "00093321" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071713" "05132" "00093322" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071714" "05132" "00093323" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071715" "05132" "00093324" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071716" "05132" "00093325" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071717" "05132" "00093326" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071718" "05132" "00093327" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071719" "05132" "00093328" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071720" "05132" "00093329" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071721" "05132" "00093330" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071722" "05132" "00093331" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071723" "05132" "00093332" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071724" "05132" "00093333" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071725" "05132" "00093334" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071726" "05132" "00093335" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071727" "05132" "00093336" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071728" "05132" "00093337" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071729" "05132" "00093338" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071730" "05132" "00093339" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071731" "05132" "00093340" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071732" "05132" "00093341" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071733" "05132" "00093342" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071734" "05132" "00093343" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071735" "05132" "00093344" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071736" "05132" "00093345" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071737" "05132" "00093346" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071738" "05132" "00093347" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071739" "05132" "00093348" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071740" "05132" "00093349" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071741" "05132" "00093350" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071742" "05132" "00093351" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071743" "05132" "00093352" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071744" "05132" "00093353" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071745" "05132" "00093354" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071746" "05132" "00093355" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071747" "05132" "00093356" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071748" "05132" "00093357" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071749" "05132" "00093358" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071750" "05132" "00093359" "00687" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071751" "05132" "00093360" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071752" "05132" "00093361" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071753" "05132" "00093362" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071754" "05132" "00093363" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071755" "05132" "00093364" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071756" "05132" "00093365" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071758" "05132" "00093367" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071759" "01361" "00093368" "00687" "Familial, X-linked dominant" "" "TBMN; onset of isolated persistent proteinuria at the age of 15, and one episode of gross haematuria at 18. Mother presented with isolated and persistent haematuria.; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071760" "05132" "00093369" "00687" "Unknown" "" "24y renal failure; microscopic haematuria and proteinuria at 10y; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071761" "05132" "00093370" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071762" "05132" "00093371" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071763" "05132" "00093372" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071764" "05132" "00093373" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071765" "05132" "00093374" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071766" "05132" "00093375" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071767" "05132" "00093376" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071768" "05132" "00093377" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071769" "05132" "00093378" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071770" "05132" "00093379" "00687" "Unknown" "" "Microscopic haematuria at 25y Mild proteinuria, sensorineural hearing loss, GBM irregularity with splitting of lamina densa at 33y Progressive myopia since 14y, macular holes at 28y, bilateral anterior and posterior lenticonus and larger macular holes at 33 y ; 33y GBM pathology, hearing loss; ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071771" "05132" "00093380" "00687" "Unknown" "" "haematuria, proteinuria and early sensorineural hearing loss; 6y; both Mother and index patient heterzygous for MYH9 c.4952T>C mutation. MYH9 mutation accounts for the inner ear deafness in the mother. Father hemizygous for the COL4A5 mutation, haematuria since birth, developed ESRD at 12y; sensorineural high-tone hearing loss and lesions of the cornea at 6 y, GBM pathology at 9 y; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071772" "05132" "00093381" "00687" "Unknown" "" "Proband 7 y old. Haematuria, mixed hearing loss, mental retardation, midface hypoplasia, digital anomalies, elliptocytosis, myopia.; no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071773" "05132" "00093382" "00687" "Unknown" "" "8 males with ESRD, 11 obligate carriers. In males, proteinuria, hypertension and renal dysfunction with variable haematuria. ; 10y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071774" "00198" "00093383" "00687" "Familial" "" "FSGS; 18/14/77y renal failure; GBM pathology ?/+/?; hearing loss +/+/?; ocular abnormality -/-/-; . 1 female carrier had microscopic haematuria, proteinuria. Another female had ESRD at 77y; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071776" "05132" "00093385" "00687" "Familial" "" "50/+y renal failure; GBM pathology +/+; hearing loss -/-; ocular abnormality ?/?; . Both male had renal failure and 1 ESRD. 3 female carriers. 1 female presented with microscopic haematuria, 1 female presented with microscopic haematuria and proteinuria. 1 female diagnosed with FSGS on biopsy; no hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071780" "00198" "00093389" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071781" "00198" "00093390" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071782" "00198" "00093391" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071783" "00198" "00093392" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071784" "00198" "00093393" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071785" "00198" "00093394" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071786" "02210" "00093395" "00687" "Familial, X-linked" "" "micro and macro haematuria, proteinuria; 21y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071787" "02210" "00093396" "00687" "Familial, X-linked" "" "Age at study 34y microscopic haematuria, proteinuria.; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071788" "02210" "00093397" "00687" "Familial, X-linked" "" "17y renal failure; microscopic haematuria, nephrotic syndrome, FSGS; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071789" "02210" "00093398" "00687" "Familial, X-linked" "" "Age at study 15y microscopic haematuria, proteinuria, MPG" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071790" "02210" "00093399" "00687" "Familial, X-linked" "" "Age at study 5y micro and macro haematuria, proteinuria, MCD; no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071791" "02210" "00093400" "00687" "Familial, X-linked" "" "Age at study7y microscopic haematuria, proteinuria, MPG; no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071792" "02210" "00093401" "00687" "Familial, X-linked" "" "Age at study 9y micro and macro haematuria, proteinuria, MCD; hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071793" "02210" "00093402" "00687" "Familial, X-linked" "" "14y renal failure; microscopic haematuria, proteinuria, MPG; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071794" "02210" "00093403" "00687" "Familial, X-linked" "" "Age at study 5y microscopic haematuria, proteinuria, MCD; no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071795" "02210" "00093404" "00687" "Familial, X-linked" "" "Age at study 28y microscopic haematuria, proteinuria, FSGS; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071796" "02210" "00093405" "00687" "Familial, X-linked" "" "age at study 17y micro and macro haematuria, nephrotic syndrome, MPG; hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071797" "02210" "00093406" "00687" "Familial, X-linked" "" "Age at study 9y microscopic haematuria" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071798" "02210" "00093407" "00687" "Familial, X-linked" "" "Age at study 17y microcopic haematuria, FSGS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071799" "02210" "00093408" "00687" "Familial, X-linked" "" "25y renal failure; microscopic haematuria, nephrotic syndrome, FSGS; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071800" "02210" "00093409" "00687" "Familial, X-linked" "" "Age at study 21ymicroscopic haematuria, proteinuria, FSGS; no hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071801" "02210" "00093410" "00687" "Familial, X-linked" "" "Age at study 20y microscopic haematuria, nephrotic syndrome; no hearing loss; ocular changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071802" "02210" "00093411" "00687" "Familial, X-linked" "" "Age at study 5y microscopic haematuria, proteinuria, MCD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071803" "02210" "00093412" "00687" "Familial, X-linked" "" "Age at study 20y microscopic haematuria, proteinuria; no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071804" "02210" "00093413" "00687" "Familial, X-linked" "" "Age at study 45y microscopic haematuria, proteinuria; no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071805" "02210" "00093414" "00687" "Familial, X-linked" "" "Age at study 24y microscopic haematuria, nephrotic syndrome, FSGS; hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071806" "02210" "00093415" "00687" "Familial, X-linked" "" "31y renal failure; microscopic haematuria, nephrotic syndrome; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071807" "02210" "00093416" "00687" "Familial, X-linked" "" "Age at study 8y micro and macro haematuria, proteinuria" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071808" "02210" "00093417" "00687" "Familial, X-linked" "" "Age at study 22y microscopic haematuria, nephrotic syndrome, FSGS; no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071809" "02210" "00093418" "00687" "Familial, X-linked" "" "30y renal failure; microscopic haematuria, proteinuria, FSGS; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071810" "02210" "00093419" "00687" "Familial, X-linked" "" "22y renal failure; microscopic haematuria, nephrotic syndrome, FSGS; no hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071811" "02210" "00093420" "00687" "Familial, X-linked" "" "Age at study 37y microscopic haematuria, nephrotic syndrome, FSGS; hearing loss; ocular changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071812" "02210" "00093421" "00687" "Familial, X-linked" "" "Age at study 7y microscopic haematuria, proteinuria" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071813" "02210" "00093422" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071814" "02210" "00093423" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071815" "02210" "00093424" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071816" "02210" "00093425" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071817" "02210" "00093426" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071818" "02210" "00093427" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071819" "02210" "00093428" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071820" "02210" "00093429" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071821" "02210" "00093430" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071822" "02210" "00093431" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071823" "02210" "00093432" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071824" "02210" "00093433" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071825" "02210" "00093434" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071826" "02210" "00093435" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071827" "02210" "00093436" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071828" "02210" "00093437" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071829" "02210" "00093438" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071830" "02210" "00093439" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071831" "05132" "00093440" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071832" "05132" "00093441" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071833" "05132" "00093442" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071834" "05132" "00093443" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071835" "05132" "00093444" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071836" "05132" "00093445" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071837" "05132" "00093446" "00687" "Unknown" "" "micro and macrohaematuria, proteinuria, normal serum creatinine. Esophageal leiomyomatosis. Mother had microhaematuria, intermitenet proteinuria, gross hematuris episodes from childhood, esophageal achalasia at 22y, uterine leiomyomatosis.; no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071838" "05132" "00093447" "00687" "Unknown" "" "esophageal achalasia at 3y, microhaematuria at 4 y Progressive sensorineural hearing loss since 6y, hearing aids at 11y Diffuse esophageal leiomyomatosis at 9y Microhaematuria, proteinuria and moderately elevated creatinine levels at 19y No family history.; hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071839" "05132" "00093448" "00687" "Unknown" "" "bilateral cataract and progressive hearing loss. Hearing aids at 11y Dysphagia since childhood. Eosophageal leiomyoma, microhaematuria and proteinuria at 14y GBM pathology at 32y, also absent ?3(IV) and ?5(IV) expression and normal ?1(IV) expression. Normal renal function at 33y Sister diagnosed with Hirschprung disease. Mother had achalasia at 9y, and uterine leiomyomas.; hearing loss; ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071840" "05132" "00093449" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071841" "05132" "00093450" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071842" "05132" "00093451" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071843" "05132" "00093452" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071844" "05132" "00093453" "00687" "Unknown" "" "15y renal failure; persistant haematuria and hypertension at 12y bilateral cataract. proteinuria; 3 other males are affected, all had ESRD16-17y, proteinuria, sensorineural hearing lossa amd ocular changes.; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071845" "02210" "00093454" "00687" "Familial, X-linked" "" "Alports, klinefelter syndromes and craniopharyngioma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071846" "02210" "00093455" "00687" "Familial, X-linked" "" "haematuria and proteinuria at 3y, GBM abnormalities at 7, heavy proteinuria and hypoalbuminemia, and normal renal function. ; no ocular phenotype; glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071847" "02210" "00093456" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071848" "02210" "00093457" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071849" "02210" "00093458" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071850" "05132" "00093459" "00687" "Unknown" "" "delayed speech, tempur tantrums, limited attention span; 5y haematuria, proteinuria, intermittent hypertension, renal biopsy compatible with Alport syndrome, hyperopia, astigmatism; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071851" "05132" "00093460" "00687" "Unknown" "" "13y renal failure; 2.5y microscopic haematuria, red blood cell casts; 8y enlarged kidneys, mild sensorineural hearing loss; intellectual disability; macrocephaly (also in father); hearing loss; no ocular phenotype; renal failure, lomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071852" "05132" "00093461" "00687" "Unknown" "" "hearing loss; intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071853" "05132" "00093462" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071854" "05132" "00093463" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071855" "05132" "00093464" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071856" "05132" "00093465" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071857" "05132" "00093466" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071858" "05132" "00093467" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071859" "05132" "00093468" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071860" "05132" "00093469" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071861" "05132" "00093470" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071862" "05132" "00093471" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071863" "05132" "00093472" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071864" "05132" "00093473" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071865" "05132" "00093474" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071866" "05132" "00093475" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071867" "05132" "00093476" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071868" "05132" "00093477" "00687" "Unknown" "" "19y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071869" "05132" "00093478" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071870" "05132" "00093479" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071871" "05132" "00093480" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071872" "05132" "00093481" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071873" "05132" "00093482" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071874" "05132" "00093483" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071875" "05132" "00093484" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071876" "05132" "00093485" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071877" "05132" "00093486" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071878" "05132" "00093487" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071879" "05132" "00093488" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071880" "05132" "00093489" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071881" "05132" "00093490" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071882" "05132" "00093491" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071883" "05132" "00093492" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071884" "05132" "00093493" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071885" "05132" "00093494" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071886" "05132" "00093495" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071887" "05132" "00093496" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071888" "05132" "00093497" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071889" "05132" "00093498" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071890" "05132" "00093499" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071891" "05132" "00093500" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071892" "05132" "00093501" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071893" "05132" "00093502" "00687" "Unknown" "" "20y renal failure; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071894" "05132" "00093503" "00687" "Unknown" "" "20y renal failure; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071895" "05132" "00093504" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071896" "05132" "00093505" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071897" "05132" "00093506" "00687" "Unknown" "" "hemturia protnuria; ESRD-24y; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071898" "05132" "00093507" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071899" "05132" "00093508" "00687" "Unknown" "" "myopic astigmatism; 12y renal failure; hearing loss (+); hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071900" "05132" "00093509" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071901" "05132" "00093510" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071902" "05132" "00093511" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071903" "05132" "00093512" "00687" "Unknown" "" "25y renal failure; hearing loss (+); recrt crneal erosion; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071904" "05132" "00093513" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071905" "05132" "00093514" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071906" "05132" "00093515" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071907" "05132" "00093516" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071908" "05132" "00093517" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071909" "05132" "00093518" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071910" "05132" "00093519" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071911" "05132" "00093520" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071912" "05132" "00093521" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071913" "05132" "00093522" "00687" "Unknown" "" "hearing loss (+); hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071914" "05132" "00093523" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071915" "05132" "00093524" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071916" "05132" "00093525" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071917" "05132" "00093526" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071918" "05132" "00093527" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071919" "05132" "00093528" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071920" "05132" "00093529" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071921" "05132" "00093530" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071922" "05132" "00093531" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071923" "05132" "00093532" "00687" "Unknown" "" "hemturia protnuria; corneal degeneration; no hearing loss; ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071924" "05132" "00093533" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071925" "05132" "00093534" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071926" "05132" "00093535" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071927" "05132" "00093536" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071928" "05132" "00093537" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071929" "05132" "00093538" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071930" "05132" "00093539" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071931" "05132" "00093540" "00687" "Unknown" "" "hearing loss (+); retinal degeneration; hearing loss; ocular changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071932" "05132" "00093541" "00687" "Unknown" "" "hemturia protnuria; 36y hearing loss; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071933" "05132" "00093542" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071934" "05132" "00093543" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071935" "05132" "00093544" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071936" "05132" "00093545" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071937" "05132" "00093546" "00687" "Unknown" "" "hearing loss (+); hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071938" "05132" "00093547" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071939" "05132" "00093548" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071940" "05132" "00093549" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071941" "05132" "00093550" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071942" "05132" "00093551" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071943" "05132" "00093552" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071944" "05132" "00093553" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071945" "05132" "00093554" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071946" "05132" "00093555" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071947" "05132" "00093556" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071948" "05132" "00093557" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071949" "05132" "00093558" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071950" "05132" "00093559" "00687" "Unknown" "" "CKD stage 3B; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071951" "05132" "00093560" "00687" "Unknown" "" "24y renal failure; no hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071952" "05132" "00093561" "00687" "Unknown" "" "17y renal failure; hearing loss (+); corneal erosion; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071953" "05132" "00093562" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071954" "05132" "00093563" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071955" "05132" "00093564" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071956" "05132" "00093565" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071957" "05132" "00093566" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071958" "05132" "00093567" "00687" "Unknown" "" "Hematuria ; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071959" "05132" "00093568" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071960" "05132" "00093569" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071961" "05132" "00093570" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071962" "05132" "00093571" "00687" "Unknown" "" "ESRD-19y; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071963" "05132" "00093572" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071964" "05132" "00093573" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071965" "05132" "00093574" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071966" "05132" "00093575" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071967" "05132" "00093576" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071968" "05132" "00093577" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071969" "05132" "00093578" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071970" "05132" "00093579" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071971" "05132" "00093580" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071972" "05132" "00093581" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071973" "05132" "00093582" "00687" "Unknown" "" "ESRD (at 25 y); 25y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071974" "05132" "00093583" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071975" "05132" "00093584" "00687" "Unknown" "" "17y renal failure; hearing loss (+); hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071976" "05132" "00093585" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071977" "05132" "00093586" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071978" "05132" "00093587" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071979" "05132" "00093588" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071980" "05132" "00093589" "00687" "Unknown" "" "hemturia protnuria; hearing loss 11y; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071981" "05132" "00093590" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071982" "05132" "00093591" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071983" "05132" "00093592" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071984" "05132" "00093593" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071985" "05132" "00093594" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071986" "05132" "00093595" "00687" "Unknown" "" "no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071987" "05132" "00093596" "00687" "Unknown" "" "ESRD (at 18 y); 18y renal failure; hearing loss 8y; Corneal lesions; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071988" "05132" "00093597" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071989" "05132" "00093598" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071990" "05132" "00093599" "00687" "Unknown" "" "36y renal failure; no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071991" "05132" "00093600" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071992" "05132" "00093601" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071993" "05132" "00093602" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071994" "05132" "00093603" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071995" "05132" "00093604" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071996" "05132" "00093605" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071997" "05132" "00093606" "00687" "Unknown" "" "; glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071998" "05132" "00093607" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000071999" "05132" "00093608" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072000" "05132" "00093609" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072001" "05132" "00093610" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072002" "05132" "00093611" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072003" "05132" "00093612" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072004" "05132" "00093613" "00687" "Unknown" "" "cataract; no hearing loss; ocular changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072005" "05132" "00093614" "00687" "Unknown" "" "hearing loss (+); hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072006" "05132" "00093615" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072007" "05132" "00093616" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072008" "05132" "00093617" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072009" "05132" "00093618" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072010" "05132" "00093619" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072011" "05132" "00093620" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072012" "05132" "00093621" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072013" "05132" "00093622" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072014" "05132" "00093623" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072015" "05132" "00093624" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072016" "05132" "00093625" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072017" "05132" "00093626" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072018" "05132" "00093627" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072019" "05132" "00093628" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072020" "05132" "00093629" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072021" "05132" "00093630" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072022" "05132" "00093631" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072023" "05132" "00093632" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072024" "05132" "00093633" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072025" "05132" "00093634" "00687" "Unknown" "" "hemturia protnuria; ESRD 21y; hearing loss 4y; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072026" "05132" "00093635" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072027" "05132" "00093636" "00687" "Unknown" "" "no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072028" "05132" "00093637" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072029" "05132" "00093638" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072030" "05132" "00093639" "00687" "Unknown" "" "astigmatism; no hearing loss; ocular changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072031" "05132" "00093640" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072032" "05132" "00093641" "00687" "Unknown" "" "hearing loss (+); hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072033" "05132" "00093642" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072034" "05132" "00093643" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072035" "05132" "00093644" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072036" "05132" "00093645" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072037" "05132" "00093646" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072038" "05132" "00093647" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072039" "05132" "00093648" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072040" "05132" "00093649" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072041" "05132" "00093650" "00687" "Unknown" "" "hemturia protnuria; hearing loss 22y; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072042" "05132" "00093651" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072043" "05132" "00093652" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072044" "05132" "00093653" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072045" "05132" "00093654" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072046" "05132" "00093655" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072047" "05132" "00093656" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072048" "05132" "00093657" "00687" "Unknown" "" "no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072049" "05132" "00093658" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072050" "05132" "00093659" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072051" "05132" "00093660" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072052" "05132" "00093661" "00687" "Unknown" "" "hemat. (at 3 y); no hearing loss 3y; no eye abnormality 3y; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072053" "05132" "00093662" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072054" "05132" "00093663" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072055" "05132" "00093664" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072056" "05132" "00093665" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072057" "05132" "00093666" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072058" "05132" "00093667" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072059" "05132" "00093668" "00687" "Unknown" "" "ESRD (at 31 y); 31y renal failure; hearing loss 30a; Miopia; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072060" "05132" "00093669" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072061" "05132" "00093670" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072062" "05132" "00093671" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072063" "05132" "00093672" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072064" "05132" "00093673" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072065" "05132" "00093674" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072066" "05132" "00093675" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072067" "05132" "00093676" "00687" "Unknown" "" "Hematuria ; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072068" "05132" "00093677" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072069" "05132" "00093678" "00687" "Unknown" "" "ESRD-18y; hearing loss 10y; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072070" "05132" "00093679" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072071" "05132" "00093680" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072072" "05132" "00093681" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072073" "05132" "00093682" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072074" "05132" "00093683" "00687" "Unknown" "" "Proteinuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072075" "05132" "00093684" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072076" "05132" "00093685" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072077" "05132" "00093686" "00687" "Unknown" "" "hemturia protnuria; 28y; hearing loss 30y; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072078" "05132" "00093687" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072079" "05132" "00093688" "00687" "Unknown" "" "20y renal failure; hearing loss 7y; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072080" "05132" "00093689" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072081" "05132" "00093690" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072082" "05132" "00093691" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072083" "05132" "00093692" "00687" "Unknown" "" "ESRD (at 26 y); 26y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072084" "05132" "00093693" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072085" "05132" "00093694" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072086" "05132" "00093695" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072087" "05132" "00093696" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072088" "05132" "00093697" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072089" "05132" "00093698" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072090" "05132" "00093699" "00687" "Unknown" "" "hemturia protnuria; hearing loss 11y; Vision loss; hearing loss; ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072091" "05132" "00093700" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072092" "05132" "00093701" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072093" "05132" "00093702" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072094" "05132" "00093703" "00687" "Unknown" "" "21y renal failure; hearing loss (+); Keratoconus; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072095" "05132" "00093704" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072096" "05132" "00093705" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072097" "05132" "00093706" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072098" "05132" "00093707" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072099" "05132" "00093708" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072100" "05132" "00093709" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072101" "05132" "00093710" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072102" "05132" "00093711" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072103" "05132" "00093712" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072104" "05132" "00093713" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072105" "05132" "00093714" "00687" "Unknown" "" "44y renal failure; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072106" "05132" "00093715" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072107" "05132" "00093716" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072108" "05132" "00093717" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072109" "05132" "00093718" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072110" "05132" "00093719" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072111" "05132" "00093720" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072112" "05132" "00093721" "00687" "Unknown" "" "µhemat (11 y); hearing loss 7y; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072113" "05132" "00093722" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072114" "05132" "00093723" "00687" "Unknown" "" "ESRD (at 18 y); 18y renal failure; hearing loss 8y; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072115" "05132" "00093724" "00687" "Unknown" "" "35y renal failure; no hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072116" "05132" "00093725" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072117" "05132" "00093726" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072118" "05132" "00093727" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072119" "05132" "00093728" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072120" "05132" "00093729" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072121" "05132" "00093730" "00687" "Unknown" "" "ESRD (at 27 y); 27y renal failure; hearing loss 18y; cataracts; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072122" "05132" "00093731" "00687" "Unknown" "" "hemturia protnuria; hearing loss 20y; no eye abnormality 24y; hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072123" "05132" "00093732" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072124" "05132" "00093733" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072125" "05132" "00093734" "00687" "Unknown" "" "15y renal failure; no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072126" "05132" "00093735" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072127" "05132" "00093736" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072128" "05132" "00093737" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072129" "05132" "00093738" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072130" "05132" "00093739" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072131" "05132" "00093740" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072132" "05132" "00093741" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072133" "05132" "00093742" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072134" "05132" "00093743" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072135" "05132" "00093744" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072136" "05132" "00093745" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072137" "05132" "00093746" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072138" "05132" "00093747" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072139" "05132" "00093748" "00687" "Unknown" "" "hearing loss (+); hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072140" "05132" "00093749" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072141" "05132" "00093750" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072142" "05132" "00093751" "00687" "Unknown" "" "ESRD (at 23 y ); 23y renal failure; hearing loss 5y; Cataracts; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072143" "05132" "00093752" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072144" "05132" "00093753" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072145" "05132" "00093754" "00687" "Unknown" "" "no hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072146" "05132" "00093755" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072147" "05132" "00093756" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072148" "05132" "00093757" "00687" "Unknown" "" "Hematuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072149" "05132" "00093758" "00687" "Unknown" "" "Hematuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072150" "05132" "00093759" "00687" "Unknown" "" "17y renal failure; cataract in FHx; no hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072151" "05132" "00093760" "00687" "Unknown" "" "39y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072152" "05132" "00093761" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072153" "05132" "00093762" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072154" "05132" "00093763" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072155" "05132" "00093764" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072156" "05132" "00093765" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072157" "05132" "00093766" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072158" "05132" "00093767" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072159" "05132" "00093768" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072160" "05132" "00093769" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072161" "05132" "00093770" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072162" "05132" "00093771" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072163" "05132" "00093772" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072164" "05132" "00093773" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072165" "05132" "00093774" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072166" "05132" "00093775" "00687" "Unknown" "" "hearing loss (+); Keratoconus; hearing loss; ocular changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072167" "05132" "00093776" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072168" "05132" "00093777" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072169" "05132" "00093778" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072170" "05132" "00093779" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072171" "05132" "00093780" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072172" "05132" "00093781" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072173" "05132" "00093782" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072174" "05132" "00093783" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072175" "05132" "00093784" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072176" "05132" "00093785" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072177" "05132" "00093786" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072178" "05132" "00093787" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072179" "05132" "00093788" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072180" "05132" "00093789" "00687" "Unknown" "" "hearing loss (+); myopia; hearing loss; ocular changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072181" "05132" "00093790" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072182" "05132" "00093791" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072183" "05132" "00093792" "00687" "Unknown" "" "ESRD (at 28 y); 28y renal failure; hearing loss 15a; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072184" "05132" "00093793" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072185" "05132" "00093794" "00687" "Unknown" "" "19y renal failure; hearing loss (+); hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072186" "05132" "00093795" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072187" "05132" "00093796" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072188" "05132" "00093797" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072189" "05132" "00093798" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072190" "05132" "00093799" "00687" "Unknown" "" "Proteinuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072191" "05132" "00093800" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072192" "05132" "00093801" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072193" "05132" "00093802" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072194" "05132" "00093803" "00687" "Unknown" "" "ESRD-15y; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072195" "05132" "00093804" "00687" "Unknown" "" "ESRD (at 19 y); 19y renal failure; Anterior lenticonus; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072196" "05132" "00093805" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072197" "05132" "00093806" "00687" "Unknown" "" "hemturia protnuria; no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072198" "05132" "00093807" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072199" "05132" "00093808" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072200" "05132" "00093809" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072201" "05132" "00093810" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072202" "05132" "00093811" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072203" "05132" "00093812" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072204" "05132" "00093813" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072205" "05132" "00093814" "00687" "Unknown" "" "15y renal failure; no hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072206" "05132" "00093815" "00687" "Unknown" "" "ESRD 25y; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072207" "05132" "00093816" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072208" "05132" "00093817" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072209" "05132" "00093818" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072210" "05132" "00093819" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072211" "05132" "00093820" "00687" "Unknown" "" "hemturia protnuria; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072212" "05132" "00093821" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072213" "05132" "00093822" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072214" "05132" "00093823" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072215" "05132" "00093824" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072216" "05132" "00093825" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072217" "05132" "00093826" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072218" "05132" "00093827" "00687" "Unknown" "" "hemturia protnuria; hearing loss 9y; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072219" "05132" "00093828" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072220" "05132" "00093829" "00687" "Unknown" "" "microhematuria; no hearing loss 3.5y; no eye abnormality 3.5y; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072221" "05132" "00093830" "00687" "Unknown" "" "Hematuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072222" "05132" "00093831" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072223" "05132" "00093832" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072224" "05132" "00093833" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072225" "05132" "00093834" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072226" "05132" "00093835" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072227" "05132" "00093836" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072228" "05132" "00093837" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072229" "05132" "00093838" "00687" "Unknown" "" "Proteinuria; hearing loss 7y; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072230" "05132" "00093839" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072231" "05132" "00093840" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072232" "05132" "00093841" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072233" "05132" "00093842" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072234" "05132" "00093843" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072235" "05132" "00093844" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072236" "05132" "00093845" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072237" "05132" "00093846" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072238" "05132" "00093847" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072239" "05132" "00093848" "00687" "Unknown" "" "13y renal failure; no hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072240" "05132" "00093849" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072241" "05132" "00093850" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072242" "05132" "00093851" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072243" "05132" "00093852" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072244" "05132" "00093853" "00687" "Unknown" "" "ESRD (19 y); 19y renal failure; no hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072245" "05132" "00093854" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072246" "05132" "00093855" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072247" "05132" "00093856" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072248" "05132" "00093857" "00687" "Unknown" "" "hearing loss (+); hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072249" "05132" "00093858" "00687" "Unknown" "" "hearing loss (+); hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072250" "05132" "00093859" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072251" "05132" "00093860" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072252" "05132" "00093861" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072253" "05132" "00093862" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072254" "05132" "00093863" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072255" "05132" "00093864" "00687" "Unknown" "" "20y renal failure; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072256" "05132" "00093865" "00687" "Unknown" "" "17y renal failure; hearing loss (+); hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072257" "05132" "00093866" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072258" "05132" "00093867" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072259" "05132" "00093868" "00687" "Unknown" "" "ESRD (at 19 y); 19y renal failure; hearing loss 7y; Vision loss (@19 y); hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072260" "05132" "00093869" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072261" "05132" "00093870" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072262" "05132" "00093871" "00687" "Unknown" "" "hemturia protnuria; no hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072263" "05132" "00093872" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072264" "05132" "00093873" "00687" "Unknown" "" "28y renal failure; hearing loss (+); hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072265" "05132" "00093874" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072266" "05132" "00093875" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072267" "05132" "00093876" "00687" "Unknown" "" "13y renal failure; hearing loss (+); hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072268" "05132" "00093877" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072269" "05132" "00093878" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072270" "05132" "00093879" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072271" "05132" "00093880" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072272" "05132" "00093881" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072273" "05132" "00093882" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072274" "05132" "00093883" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072275" "05132" "00093884" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072276" "05132" "00093885" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072277" "05132" "00093886" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072278" "05132" "00093887" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072279" "05132" "00093888" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072280" "05132" "00093889" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072281" "05132" "00093890" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072282" "05132" "00093891" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072283" "05132" "00093892" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072284" "05132" "00093893" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072285" "05132" "00093894" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072286" "05132" "00093895" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072287" "05132" "00093896" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072288" "05132" "00093897" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072289" "05132" "00093898" "00687" "Unknown" "" "hemturia protnuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072290" "05132" "00093899" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072291" "05132" "00093900" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072292" "05132" "00093901" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072293" "05132" "00093902" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072294" "05132" "00093903" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072295" "05132" "00093904" "00687" "Unknown" "" "hemturia protnuria; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072296" "05132" "00093905" "00687" "Unknown" "" "39y renal failure; hearing loss (+); hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072297" "05132" "00093906" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072298" "05132" "00093907" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072299" "05132" "00093908" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072300" "05132" "00093909" "00687" "Unknown" "" "19y renal failure; hearing loss (+); hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072301" "05132" "00093910" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072302" "05132" "00093911" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072303" "05132" "00093912" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072304" "05132" "00093913" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072305" "05132" "00093914" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072306" "05132" "00093915" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072307" "05132" "00093916" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072308" "05132" "00093917" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072309" "05132" "00093918" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072310" "05132" "00093919" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072311" "05132" "00093920" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072312" "05132" "00093921" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072313" "05132" "00093922" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072314" "05132" "00093923" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072315" "05132" "00093924" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072316" "05132" "00093925" "00687" "Unknown" "" "Hematuria ; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072317" "05132" "00093926" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072318" "05132" "00093927" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072319" "05132" "00093928" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072320" "05132" "00093929" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072321" "05132" "00093930" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072322" "05132" "00093931" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072323" "05132" "00093932" "00687" "Unknown" "" "hemturia protnuria; hearing loss 9y; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072324" "05132" "00093933" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072325" "05132" "00093934" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072326" "05132" "00093935" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072327" "05132" "00093936" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072328" "05132" "00093937" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072329" "05132" "00093938" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072330" "05132" "00093939" "00687" "Unknown" "" "renal insufficiency; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072331" "05132" "00093940" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072332" "05132" "00093941" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072333" "05132" "00093942" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072334" "05132" "00093943" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072335" "05132" "00093944" "00687" "Unknown" "" "hemturia protnuria; no hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072336" "05132" "00093945" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072337" "05132" "00093946" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072338" "05132" "00093947" "00687" "Unknown" "" "30y renal failure; hearing loss (+); myopia; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072339" "05132" "00093948" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072340" "05132" "00093949" "00687" "Unknown" "" "hearing loss (+); hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072341" "05132" "00093950" "00687" "Unknown" "" "15y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072342" "05132" "00093951" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072343" "05132" "00093952" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072344" "05132" "00093953" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072345" "05132" "00093954" "00687" "Unknown" "" "30y renal failure; no hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072346" "05132" "00093955" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072347" "05132" "00093956" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072348" "05132" "00093957" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072349" "05132" "00093958" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072350" "05132" "00093959" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072351" "05132" "00093960" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072352" "05132" "00093961" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072353" "05132" "00093962" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072354" "00198" "00093963" "01547" "Unknown" "" "Isolated diffuse oesophageal leiomyomatosis; no hearing loss; no ocular phenotype; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072355" "00198" "00093964" "01547" "Unknown" "" "Isolated diffuse oesophageal leiomyomatosis; no hearing loss; no ocular phenotype; no renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072356" "02210" "00093965" "01546" "Familial, X-linked" "" "18y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072357" "02210" "00093966" "01546" "Familial, X-linked" "" "28y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072358" "02210" "00093967" "01546" "Familial, X-linked" "" "21y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072359" "02210" "00093968" "01546" "Familial, X-linked" "" "45y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072360" "02210" "00093969" "01546" "Familial, X-linked" "" "28y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072361" "02210" "00093970" "01546" "Familial, X-linked" "" "22y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072362" "02210" "00093971" "01546" "Familial, X-linked" "" "hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072363" "05132" "00093972" "01546" "Unknown" "" "Alport syndrome and diffuse leiomyomatosis; 20y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072364" "02210" "00093973" "01546" "Familial, X-linked" "" "20y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072365" "02210" "00093974" "01546" "Familial, X-linked" "" "History of microscopic hematuria, proteinuria and CKD stage 3; no hearing loss; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072366" "02210" "00093975" "01546" "Familial, X-linked" "" "17y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072367" "02210" "00093976" "01546" "Familial, X-linked" "" "53y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072368" "02210" "00093977" "01546" "Familial, X-linked" "" "46y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072369" "02210" "00093978" "01546" "Familial, X-linked" "" "Microscopic hematuria and proteinuria diagnosed at 28 years old; no hearing loss; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072370" "02210" "00093979" "01546" "Familial, X-linked" "" "30y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072371" "02210" "00093980" "01546" "Familial, X-linked" "" "32y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072372" "02210" "00093981" "01546" "Familial, X-linked" "" "64y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072373" "02210" "00093982" "01546" "Familial, X-linked" "" "History of microscopic hematuria and proteinuria; no hearing loss; no ocular phenotype; no renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072374" "02210" "00093983" "01546" "Familial, X-linked" "" "23y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072375" "02210" "00093984" "01546" "Familial, X-linked" "" "17y renal failure; no hearing loss (subjective); no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072376" "02210" "00093985" "01546" "Familial, X-linked" "" "16y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072377" "02210" "00093986" "01546" "Familial, X-linked" "" "18y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072378" "05132" "00093987" "01548" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072379" "05132" "00093988" "01548" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072380" "05132" "00093989" "01548" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072381" "05132" "00093990" "01548" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072382" "05132" "00093991" "01548" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072383" "05132" "00093992" "01548" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072384" "05132" "00093993" "00687" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072385" "05132" "00093994" "00687" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072386" "05132" "00093995" "00687" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072387" "05132" "00093996" "00687" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072388" "05132" "00093997" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072389" "05132" "00093998" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072390" "05132" "00093999" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072391" "05132" "00094000" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072392" "05132" "00094001" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072393" "05132" "00094002" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072394" "05132" "00094003" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000072395" "05132" "00094004" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081924" "03381" "00103990" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000122527" "05132" "00150131" "02367" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124327" "05132" "00151964" "02367" "Familial, X-linked dominant" "11y" "hematuria, proteinuria; early onset Alport syndrome with extrarenal symptoms in male relatives" "04y" "" "11y" "Plevova" "" "" "" "" "" "" "" "" "" "" "" "X-linked Alport syndrome" "" "" "0000124392" "05132" "00152046" "02367" "Familial, X-linked dominant" "28y" "haematuria and proteinuria since childhood in the index patient and her sister, kidney biopsy (18 and 13 y, respectively: Alport syndrome; Alport syndrome with ESRD in 41y in father" "" "" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "28y" "" "" "0000124465" "05132" "00152121" "02367" "Familial, X-linked dominant" "05y" "haematuria, proteinuria in the patient, his mother and mother´s mother" "00y" "" "00y03m" "" "" "" "" "" "" "" "" "" "" "" "" "5y" "1,5y" "" "0000124467" "05132" "00152122" "02367" "Familial, X-linked dominant" "25y" "haematuria and proteinuria since childhood in both men and women; ESRD at 25y and hearing loss in the index pt." "<06y" "" "<06y" "<6y" "" "" "" "" "" "" "" "" "" "" "" "25y" "<6y" "" "0000124472" "05132" "00152129" "02367" "Familial, X-linked dominant" "17y" "at 3 y detected microscopic haematuria, permanent, later also proteinuria, kidney biopsy at 10 y: Alport syndrome; mother and sister microscopic haematuria since childhood" "<03y" "" "17y" "<3" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125502" "05132" "00152540" "02367" "Familial, X-linked dominant" "15y" "microscopic haematuria, proteinuria, senzorineural hearing loss, ESRD at 15y; mother microscopic haematuria; brother ESRD <20y, senzorineural hearing loss" "00y" "" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125503" "05132" "00152541" "02367" "Familial, X-linked" "13y" "at 3y detected microscopic haematuria, persistent; mother - persistent microscopic haematuria; mother´s father ESRD <28y" "<03y" "" "13y" "<3y" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125538" "05132" "00152599" "02367" "Familial, X-linked" "43y" "hematuria, proteinuria, in childhood kidney biopsy - chronic glomerulophephritis; son -hematuria, proteinuria at 7y detected" "<15y" "" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "chronic glomerulophephritis" "" "0000125539" "05132" "00152600" "02367" "Familial, X-linked" "03y" "microscopic hematuria; father ESRD <40, hearing loss" "<03y" "" "03y" "<3y" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125540" "05132" "00152601" "02367" "Familial, X-linked" "15y" "hematuria, proteinuria; two male relatives died of ESRD at the age 25-30y" "<15y" "" "15y" "<15y" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125541" "05132" "00152602" "02367" "Familial, X-linked" "42y" "ESRD <40y, eye disease (lens)" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125542" "05132" "00152603" "02367" "Familial, X-linked" "04y" "microscopic and macroscopic hematuria since 2 y, proteinuria, renal biopsy - Alport syndrome" "<02y" "" "04y" "<2y" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125543" "05132" "00152604" "02367" "Familial, X-linked" "31y" "ESRD <30y, kidney biopsy - AS; hearing loss since adolescence" "?" "" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125544" "05132" "00152605" "02367" "Familial, X-linked" "23y" "ESRD at 19y" "<18y" "" "23y" "<18y" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125545" "05132" "00152606" "02367" "Familial, X-linked" "31y" "hematuria since the age <5y, at 5y dg. of AS, at 19y kidney biopsy - AS" "<05y" "" "31y" "<5y" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125592" "05132" "00152663" "02367" "Familial, X-linked dominant" "11y" "microscopic hematuria and proteinuria detected first at the age of 1y; sister and mother microscopic hematuria detected at 1y and 15y, respectively; two males in the family with ESRD at 23y and 29y" "<01y" "" "11y" "<1y" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125593" "05132" "00152664" "02367" "Familial, X-linked dominant" "14y" "proteinuria since 6y; females in the family - hematuria, proteinuria, some ESRD >40y; males ESRD at 25-30y" "06y" "" "14y" "6y" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125594" "05132" "00152665" "02367" "Familial, X-linked dominant" "01y" "microscopic hematuria, leiomyomatosis of the eosophagus, billateral cataract" "<00y06m" "" "01y" "<6m" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with leiomyomatosis" "Alport syndrome with leiomyomatosis" "" "0000125624" "05132" "00152694" "02367" "Familial, X-linked" "44y" "hematuria, proteinuria" "<18y" "" "44y" "<18y" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125625" "05132" "00152695" "02367" "Familial, X-linked dominant" "46y" "ESRD <40y, hearing loss; daughter hematuria" "?" "" "46y" "?" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125655" "05132" "00152712" "02367" "Familial, X-linked" "05y" "hematuria, proteinuria in the index patient, his mother and brother" "<05y" "" "05y" "<5y" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125672" "05132" "00152729" "02367" "Familial, X-linked" "09y" "Microscopic hematuria (HP:0002907), proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125673" "05132" "00152730" "02367" "Familial, X-linked" "42y" "microscopic hematuria (HP:0002907), proteinuria (HP:0000093)" "<18y" "" "42y" "microscopic hematuria" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125675" "05132" "00152941" "02367" "Familial, X-linked" "13y" "microscopic hematuria (HP:0002907)" "<04y" "" "05y" "microscopic hematuria" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125676" "05132" "00152942" "02367" "Familial, X-linked dominant" "32y" "microscopic hematuria (HP:0002907), proteinuria (HP:0000093), stage 5 chronic kidney disease (HP:0003774)" "03y" "" "15y" "microscopic hematuria" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125694" "05132" "00152960" "02367" "Familial, X-linked" "33y" "microscopic hematuria (HP:0002907), proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125695" "05132" "00152960" "02367" "Familial, X-linked" "08y" "microscopic hematuria (HP:0002907)" "" "" "08y" "microscopic hematuria (HP:0002907)" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125740" "05132" "00153012" "02367" "Familial, X-linked" "35y" "microscopic hematuria (HP:0002907), proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125741" "05132" "00153013" "02367" "Familial, X-linked" "32y" "microscopic hematuria (HP:0002907), proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125742" "05132" "00153014" "02367" "Familial, X-linked dominant" "29y" "microscopic hematuria (HP:0002907), proteinuria (HP:0000093)" "<10y" "" "<10y" "microscopic hematuria" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125988" "05132" "00153307" "02367" "Familial, X-linked" "18y" "microscopic hematuria (HP:0002907), proteinuria (HP:0000093)" "<05y" "" "09y" "microscopic hematuria (HP:0002907)" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125998" "05132" "00153317" "02367" "Familial, X-linked" "15y" "microscopic hematuria (HP:0002907), proteinuria (HP:0000093)" "03y" "" "" "microscopic hematuria (HP:0002907), proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome?" "Alport syndrome" "" "0000125999" "05132" "00153318" "02367" "Familial, X-linked" "33y" "microscopic hematuria (HP:0002907), proteinuria (HP:0000093)," "?" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000126003" "05132" "00153322" "02367" "Familial, X-linked" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome - carrier" "Alport syndrome - carrier" "" "0000126073" "01644" "00153396" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126075" "01644" "00153398" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126076" "01644" "00153399" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126080" "01644" "00153403" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126083" "01644" "00153406" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126084" "01644" "00153407" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126088" "01644" "00153411" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126092" "01644" "00153415" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126096" "01644" "00153419" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126101" "01644" "00153424" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126107" "01644" "00153430" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126110" "01644" "00153433" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126111" "01644" "00153434" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126115" "01644" "00153438" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126116" "01644" "00153439" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126118" "01644" "00153441" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126120" "01644" "00153443" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126121" "01644" "00153444" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126124" "01644" "00153447" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126125" "01644" "00153448" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126126" "01644" "00153449" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126127" "01644" "00153450" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126129" "01644" "00153452" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126131" "01644" "00153454" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126137" "01644" "00153460" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126141" "01644" "00153464" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126142" "01644" "00153465" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126143" "01644" "00153466" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126144" "01644" "00153467" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126146" "01644" "00153469" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126147" "01644" "00153470" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126154" "01644" "00153477" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126155" "01644" "00153478" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126163" "01644" "00153486" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126164" "01644" "00153487" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126165" "01644" "00153488" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126166" "01644" "00153489" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126170" "01644" "00153493" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126173" "01644" "00153496" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126174" "01644" "00153497" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126176" "01644" "00153499" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126179" "01644" "00153502" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126181" "01644" "00153504" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126183" "01644" "00153506" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126185" "01644" "00153508" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126187" "01644" "00153510" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126188" "01644" "00153511" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126190" "01644" "00153513" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126193" "01644" "00153516" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126194" "01644" "00153517" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126195" "01644" "00153518" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126196" "01644" "00153519" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126197" "01644" "00153520" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126198" "01644" "00153521" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126199" "01644" "00153522" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126201" "01644" "00153524" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126203" "01644" "00153526" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126205" "01644" "00153528" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126209" "01644" "00153532" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126211" "01644" "00153534" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126212" "01644" "00153535" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126213" "01644" "00153536" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126215" "01644" "00153538" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126218" "01644" "00153541" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126219" "01644" "00153542" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126221" "01644" "00153544" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126224" "01644" "00153547" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126228" "01644" "00153551" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126229" "01644" "00153552" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126232" "01644" "00153555" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126238" "01644" "00153561" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126242" "01644" "00153565" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126243" "01644" "00153566" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126244" "01644" "00153567" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126247" "01644" "00153570" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126249" "01644" "00153572" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126251" "01644" "00153574" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126253" "01644" "00153576" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126255" "01644" "00153578" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126256" "01644" "00153579" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126257" "01644" "00153580" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126259" "01644" "00153582" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126260" "01644" "00153583" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126263" "01644" "00153586" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126266" "01644" "00153589" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126267" "01644" "00153590" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126270" "01644" "00153593" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126273" "01644" "00153596" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126274" "01644" "00153597" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126275" "01644" "00153598" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126285" "01644" "00153608" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126289" "01644" "00153612" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126291" "01644" "00153614" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126292" "01644" "00153615" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126293" "01644" "00153616" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126295" "01644" "00153618" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126297" "01644" "00153620" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126301" "01644" "00153624" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126305" "01644" "00153628" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126306" "01644" "00153629" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126307" "01644" "00153630" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126311" "01644" "00153634" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126312" "01644" "00153635" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126313" "01644" "00153636" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126314" "01644" "00153637" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126316" "01644" "00153639" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126318" "01644" "00153641" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126321" "01644" "00153644" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126322" "01644" "00153645" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126328" "01644" "00153651" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126330" "01644" "00153653" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126331" "01644" "00153654" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126332" "01644" "00153655" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126333" "01644" "00153656" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126335" "01644" "00153658" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126336" "01644" "00153659" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126337" "01644" "00153660" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126338" "01644" "00153661" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126339" "01644" "00153662" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126341" "01644" "00153664" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126345" "01644" "00153668" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126347" "01644" "00153670" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126350" "01644" "00153673" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126351" "01644" "00153674" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126354" "01644" "00153677" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126356" "01644" "00153679" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126665" "05132" "00153988" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126666" "05132" "00153989" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126667" "05132" "00153990" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126668" "05132" "00153991" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126669" "05132" "00153992" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126670" "01644" "00153993" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126671" "05132" "00153994" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome and diffuse oesophageal leiomyomatosis" "" "0000126672" "01644" "00153995" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126673" "01644" "00153996" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126674" "01644" "00153997" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126675" "01644" "00153998" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126676" "01644" "00153999" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126677" "01644" "00154000" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126678" "01644" "00154001" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126679" "01644" "00154002" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126680" "01644" "00154003" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126681" "05132" "00154004" "00687" "Familial, X-linked" "" "6y-hearing loss (HP:0000365); 20y-dialysis; 26y-retinopathy; GBM pathology lamellated; hematuria (HP:0000790); 24y-leiomyomatosis; proteinuria (HP:0000093); mother (45y/sister (20y) sister Alport sydnrome-diffuse leiomyomatosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126682" "01644" "00154005" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126683" "01644" "00154006" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126684" "01644" "00154007" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126685" "01644" "00154008" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126686" "01644" "00154009" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126687" "01644" "00154010" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126688" "01644" "00154011" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126689" "02210" "00154012" "00687" "Familial, X-linked" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology scattered electron dense deposits in GBM without diffuse thinning of the GBM; 30y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126690" "01644" "00154013" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126691" "01644" "00154014" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126692" "01644" "00154015" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126693" "01644" "00154016" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126694" "01644" "00154017" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126695" "02210" "00154018" "00687" "Familial, X-linked" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); no proteinuria (-HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126696" "02210" "00154019" "00687" "Familial, X-linked" "" "no hearing loss (-HP:0000365); no ocular changes; 25y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126697" "01644" "00154020" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126698" "01644" "00154021" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126699" "01644" "00154022" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126700" "01644" "00154023" "00687" "Unknown" "" "40y-renal failure (HP:0000083)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126701" "01644" "00154024" "00687" "Unknown" "" "hearing loss (HP:0000365); GBM pathology Basket weave changes; 9y-renal failure (HP:0000083)\r\nHashimura 2014: Male proband ESRD at 7y" "" "" "" "" "jsavige" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126702" "01644" "00154025" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126703" "02210" "00154026" "00687" "Familial, X-linked" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology lamellation; 17y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126704" "01644" "00154027" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126705" "01361" "00154028" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126708" "02210" "00154031" "00687" "Familial, X-linked" "" "hearing loss (HP:0000365); no ocular changes; GBM splitting; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126709" "01644" "00154032" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; 57y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126710" "01644" "00154033" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126711" "05132" "00154034" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology thinning, splitting and thickening and mesangial humps; hematuria (HP:0000790); no proteinuria (-HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126712" "01644" "00154035" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126713" "02210" "00154036" "00687" "Familial, X-linked" "" "hearing loss (HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126714" "01644" "00154037" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126715" "01644" "00154038" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126716" "01644" "00154039" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126717" "02210" "00154040" "00687" "Familial, X-linked" "" "GBM pathology lamellation, negative expression for collagen IV a5 chain; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126718" "01361" "00154041" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126719" "01644" "00154042" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126720" "01644" "00154043" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126721" "01644" "00154044" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126722" "01361" "00154045" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126723" "01644" "00154046" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126724" "01644" "00154047" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126725" "01644" "00154048" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126726" "01644" "00154049" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126727" "01644" "00154050" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126728" "01361" "00154051" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126729" "01644" "00154052" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126730" "05396" "00154053" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "glomerulosclerosis, segmental, focal (FSGS)" "" "0000126731" "02210" "00154054" "00687" "Familial, X-linked" "" "hematuria (HP:0000790); no proteinuria (-HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126732" "01644" "00154055" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "2y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126733" "01644" "00154056" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126734" "01644" "00154057" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126735" "01644" "00154058" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126736" "01644" "00154059" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126737" "01644" "00154060" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126738" "01644" "00154061" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126739" "01644" "00154062" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126740" "01644" "00154063" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126741" "01644" "00154064" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126742" "01644" "00154065" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126743" "01644" "00154066" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "21y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126744" "01644" "00154067" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126745" "01644" "00154068" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126746" "01644" "00154069" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126747" "01644" "00154070" "00687" "Unknown" "" "no hearing loss (-HP:0000365); GBM pathology Basket weave changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126748" "01644" "00154071" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126749" "01644" "00154072" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126750" "02210" "00154073" "00687" "Familial, X-linked" "" "hearing loss (HP:0000365); ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126751" "01644" "00154074" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126752" "01644" "00154075" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126753" "01644" "00154076" "00687" "Unknown" "" "hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126754" "01644" "00154077" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126755" "01644" "00154078" "00687" "Unknown" "" "hearing loss (HP:0000365); 22y-renal failure (HP:0000083)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126756" "01644" "00154079" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126757" "01644" "00154080" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126758" "01644" "00154081" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126759" "01644" "00154082" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126760" "01644" "00154083" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126761" "01644" "00154084" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126762" "01644" "00154085" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126763" "01644" "00154086" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126764" "01644" "00154087" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126765" "01644" "00154088" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126766" "01644" "00154089" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126767" "01644" "00154090" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126768" "01644" "00154091" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126769" "01644" "00154092" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126770" "01644" "00154093" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126771" "01644" "00154094" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126772" "01644" "00154095" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126773" "01644" "00154096" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126774" "01644" "00154097" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126775" "02210" "00154098" "00687" "Familial, X-linked" "" "hearing loss (HP:0000365); 39y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126777" "01644" "00154100" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126778" "01644" "00154101" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126779" "01361" "00154102" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; no hematuria (-HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126780" "01644" "00154103" "00687" "Unknown" "" "hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126781" "01644" "00154104" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126782" "01644" "00154105" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; no hematuria (-HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126783" "01644" "00154106" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126784" "01644" "00154107" "00687" "Unknown" "" "hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126785" "02210" "00154108" "00687" "Familial, X-linked" "57y" "diabete; GBM pathology thin basement membrane nephropathy with Focal and segmental glomerulosclerosis; 30y-57yy-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126786" "01644" "00154109" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126787" "02210" "00154110" "00687" "Familial, X-linked" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology Basket-weave changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126788" "01644" "00154111" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126789" "02210" "00154112" "00687" "Familial, X-linked" "" "hearing loss (HP:0000365); ocular changes, retinal vessel angiopathy; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126790" "01644" "00154113" "00687" "Unknown" "" "hearing loss (HP:0000365); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126793" "01644" "00154116" "00687" "Unknown" "" "hearing loss (HP:0000365); GBM pathology Basket weave changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126794" "01361" "00154117" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; no hematuria (-HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126795" "01644" "00154118" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126796" "01644" "00154119" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126797" "01644" "00154120" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126798" "01644" "00154121" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126799" "01644" "00154122" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126800" "01644" "00154123" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126801" "01644" "00154124" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126802" "01644" "00154125" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; 15.2y-renal failure (HP:0000083)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126803" "01644" "00154126" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126806" "01644" "00154129" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126807" "01644" "00154130" "00687" "Unknown" "" "hearing loss (HP:0000365); 13y-renal failure (HP:0000083)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126808" "01361" "00154131" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; no hematuria (-HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126809" "01644" "00154132" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126810" "02210" "00154133" "00687" "Familial, X-linked" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndromeymptomatic XL Alport syndrome" "" "0000126811" "01644" "00154134" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126812" "01644" "00154135" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126813" "01644" "00154136" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126814" "02210" "00154137" "00687" "Familial, X-linked" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology thinning, thickening; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126815" "01644" "00154138" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126816" "01644" "00154139" "00687" "Unknown" "" "no hearing loss (-HP:0000365); GBM pathology thinning" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126817" "01644" "00154140" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126818" "01644" "00154141" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126819" "01644" "00154142" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126820" "01644" "00154143" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126821" "01644" "00154144" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126822" "01644" "00154145" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126823" "01644" "00154146" "00687" "Unknown" "" "GBM pathology Basket weave changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126824" "01644" "00154147" "00687" "Unknown" "" "hearing loss (HP:0000365); ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126825" "02210" "00154148" "00687" "Familial, X-linked" "" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126826" "01644" "00154149" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126827" "01644" "00154150" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126828" "01644" "00154151" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126829" "01644" "00154152" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126830" "01644" "00154153" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126831" "01644" "00154154" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126832" "01644" "00154155" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126833" "01644" "00154156" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126834" "01644" "00154157" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126835" "01644" "00154158" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126836" "01644" "00154159" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126838" "01644" "00154161" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126839" "05132" "00154162" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology thinning and splitting; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126841" "01644" "00154164" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126842" "01644" "00154165" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126843" "01644" "00154166" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126844" "01644" "00154167" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126845" "02210" "00154168" "00687" "Familial, X-linked" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology thinned, GBM with dense granules and splitting; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126846" "02210" "00154169" "00687" "Familial, X-linked" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology lamellation; 10y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126847" "01644" "00154170" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126848" "01644" "00154171" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126849" "02210" "00154172" "00687" "Familial, X-linked" "" "hearing loss (HP:0000365); no ocular changes; GBM pathology thinning, thickening, splitting; 20y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126850" "01644" "00154173" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126851" "01644" "00154174" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126852" "01644" "00154175" "00687" "Unknown" "" "hearing loss (HP:0000365); ocular changes; 44y-renal failure (HP:0000083)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126853" "01644" "00154176" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126854" "01644" "00154177" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126855" "01644" "00154178" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126856" "02210" "00154179" "00687" "Familial, X-linked" "" "hearing loss (HP:0000365); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126857" "01644" "00154180" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126858" "01644" "00154181" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126859" "01644" "00154182" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126860" "01644" "00154183" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "26y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126861" "01644" "00154184" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126862" "01644" "00154185" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126863" "01644" "00154186" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126864" "01644" "00154187" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "24y6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126865" "01644" "00154188" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126866" "01644" "00154189" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126867" "01644" "00154190" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126868" "01361" "00154191" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); no proteinuria (-HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126869" "01644" "00154192" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126870" "01644" "00154193" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126871" "01644" "00154194" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126872" "01644" "00154195" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126873" "02210" "00154196" "00687" "Familial, X-linked" "" "hearing loss (HP:0000365); GBM pathology lamellated and ‘basket-weave’ appearance, extensive effacement of podocyte processes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126874" "01644" "00154197" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126875" "05396" "00154198" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "glomerulosclerosis, segmental, focal (FSGS)" "" "0000126876" "02210" "00154199" "00687" "Familial, X-linked" "" "hearing loss (HP:0000365); ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126877" "01644" "00154200" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126878" "01644" "00154201" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126879" "02210" "00154202" "00687" "Familial, X-linked" "" "no hearing loss (-HP:0000365); ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126880" "01644" "00154203" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126881" "01644" "00154204" "00687" "Unknown" "" "no hearing loss (-HP:0000365); GBM pathology Basket weave changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126882" "01644" "00154205" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126883" "01644" "00154206" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126884" "01644" "00154207" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126885" "01644" "00154208" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126886" "01644" "00154209" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126887" "01644" "00154210" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126888" "01644" "00154211" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology thinning, thickening, splitting; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome-KS" "" "0000126889" "01644" "00154212" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126890" "01644" "00154213" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126891" "01644" "00154214" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126892" "01644" "00154215" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126893" "01644" "00154216" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126894" "01644" "00154217" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126895" "01644" "00154218" "00687" "Unknown" "" "hearing loss (HP:0000365); ocular changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126896" "01644" "00154219" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126897" "01644" "00154220" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126898" "01644" "00154221" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126899" "01644" "00154222" "00687" "Unknown" "" "hearing loss (HP:0000365); GBM pathology Basket weave changes; 24y-renal failure (HP:0000083)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126900" "01644" "00154223" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126901" "01644" "00154224" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126902" "01644" "00154225" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126903" "01644" "00154226" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126904" "01644" "00154227" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126905" "01644" "00154228" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126906" "01644" "00154229" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "2y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126907" "01644" "00154230" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126908" "01644" "00154231" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126909" "01644" "00154232" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126910" "01644" "00154233" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126911" "01644" "00154234" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126912" "01644" "00154235" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126913" "01644" "00154236" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126914" "01644" "00154237" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126915" "01644" "00154238" "00687" "Unknown" "" "GBM pathology Basket weave changes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126916" "01644" "00154239" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126917" "01644" "00154240" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126918" "01644" "00154241" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126919" "01644" "00154242" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126920" "01644" "00154243" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126921" "01644" "00154244" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126922" "01644" "00154245" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126923" "01644" "00154246" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126924" "01644" "00154247" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126925" "01644" "00154248" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126926" "01644" "00154249" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126927" "01644" "00154250" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126928" "02210" "00154251" "00687" "Familial, X-linked" "" "hematuria (HP:0000790); no proteinuria (-HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "syndrome, Alport, X-linked recessive (ASXL)" "XL Alport syndrome" "" "0000126929" "01644" "00154252" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); no proteinuria (-HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126930" "01644" "00154253" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126931" "01644" "00154254" "00687" "Unknown" "" "hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126932" "01644" "00154255" "00687" "Unknown" "" "19y-renal failure (HP:0000083)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126933" "01644" "00154256" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126934" "01644" "00154257" "00687" "Unknown" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126935" "01644" "00154258" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126936" "01644" "00154259" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126937" "01644" "00154260" "00687" "Unknown" "" "hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126938" "01644" "00154261" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126939" "01644" "00154262" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126940" "01644" "00154263" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126941" "01644" "00154264" "00687" "Unknown" "" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126942" "01644" "00154265" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126943" "01644" "00154266" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126944" "01644" "00154267" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126945" "01644" "00154268" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126946" "01644" "00154269" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126947" "01644" "00154270" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126948" "01644" "00154271" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126949" "01644" "00154272" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126950" "01644" "00154273" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126951" "01644" "00154274" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126952" "01644" "00154275" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126953" "01644" "00154276" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126954" "01644" "00154277" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126955" "01644" "00154278" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126956" "01644" "00154279" "00687" "Unknown" "" "mild hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126957" "01644" "00154280" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126958" "01644" "00154281" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126959" "01644" "00154282" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126960" "01644" "00154283" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126961" "01644" "00154284" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126962" "01644" "00154285" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126963" "01644" "00154286" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126964" "01644" "00154287" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126965" "01644" "00154288" "00687" "Unknown" "" "20\'s mild renal failure (HP:0000083)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126966" "01644" "00154289" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126967" "01644" "00154290" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126968" "01644" "00154291" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126969" "01644" "00154292" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126970" "01644" "00154293" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126971" "01644" "00154294" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126972" "01644" "00154295" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126973" "01644" "00154296" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126974" "01644" "00154297" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126975" "01644" "00154298" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126976" "01644" "00154299" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126977" "01644" "00154300" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126978" "01644" "00154301" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126979" "01644" "00154302" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126980" "01644" "00154303" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126981" "01644" "00154304" "00687" "Unknown" "" "30\'s mild renal failure (HP:0000083)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126982" "01644" "00154305" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126983" "01644" "00154306" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126984" "01644" "00154307" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126985" "01644" "00154308" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126986" "01644" "00154309" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126987" "01644" "00154310" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126988" "01644" "00154311" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126989" "01644" "00154312" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126990" "01644" "00154313" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126991" "01644" "00154314" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126992" "01644" "00154315" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126993" "01644" "00154316" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126994" "01644" "00154317" "00687" "Unknown" "" "short-sighted" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126995" "01644" "00154318" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126996" "01644" "00154319" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126997" "01644" "00154320" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126998" "01644" "00154321" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126999" "01644" "00154322" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127000" "01644" "00154323" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127001" "01644" "00154324" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127002" "01644" "00154325" "00687" "Unknown" "" "hearing loss (HP:0000365), myopia (HP:0000545), strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127003" "01644" "00154326" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127004" "01644" "00154327" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127005" "01644" "00154328" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127006" "01644" "00154329" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127007" "01644" "00154330" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127008" "01644" "00154331" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127009" "01644" "00154332" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127010" "01644" "00154333" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127011" "01644" "00154334" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127012" "01644" "00154335" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127013" "01644" "00154336" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127014" "01644" "00154337" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127015" "01644" "00154338" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127016" "01644" "00154339" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127017" "01644" "00154340" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127018" "01644" "00154341" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127019" "01644" "00154342" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127020" "01644" "00154343" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127021" "01644" "00154344" "00687" "Unknown" "" "failed school hearing tests" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127022" "01644" "00154345" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127023" "01644" "00154346" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127024" "01644" "00154347" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127025" "01644" "00154348" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127026" "01644" "00154349" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127027" "01644" "00154350" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127028" "01644" "00154351" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127029" "01644" "00154352" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127030" "01644" "00154353" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127031" "01644" "00154354" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127032" "01644" "00154355" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127033" "01644" "00154356" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127034" "01644" "00154357" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127035" "01644" "00154358" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127036" "01644" "00154359" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127037" "01644" "00154360" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127038" "01644" "00154361" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127039" "01644" "00154362" "00687" "Unknown" "" "myopia (HP:0000545), strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127040" "01644" "00154363" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127041" "01644" "00154364" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127042" "01644" "00154365" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127043" "01644" "00154366" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127044" "01644" "00154367" "00687" "Unknown" "" "nearsighted" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127045" "01644" "00154368" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127046" "01644" "00154369" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127047" "01644" "00154370" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127048" "01644" "00154371" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127049" "01644" "00154372" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127050" "01644" "00154373" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127051" "01644" "00154374" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127052" "01644" "00154375" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127053" "01644" "00154376" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127054" "01644" "00154377" "00687" "Unknown" "" "astigmatism (HP:0000483)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000138761" "05132" "00173906" "01873" "Unknown" "" "no family history, no tumors" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport synfrome" "" "" "0000166545" "01076" "00218099" "02476" "Familial, X-linked" "17y" "Alport Syndrom\r\nX-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "alport syndrome" "moderate hearing loss / hematuria" "" "0000173072" "05132" "00230590" "00687" "Unknown" "" "Male proband ESRD at 21y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173073" "05132" "00230591" "00687" "Unknown" "" "" "" "" "" "" "jsavige" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173074" "05132" "00230592" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173075" "05132" "00230593" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173076" "05132" "00230594" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173077" "05132" "00230595" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173078" "05132" "00230596" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173079" "05132" "00230597" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173080" "05132" "00230598" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173081" "05132" "00230599" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173082" "05132" "00230600" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173083" "05132" "00230601" "00687" "Unknown" "" "Male proband ESRD at 21y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173084" "05132" "00230602" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173085" "05132" "00230603" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173086" "05132" "00230604" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173087" "05132" "00230605" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173088" "05132" "00230606" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173089" "05132" "00230607" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173090" "05132" "00230608" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173091" "05132" "00230609" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173092" "05132" "00230610" "00687" "Unknown" "" "Male proband ESRD at 19y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173093" "05132" "00230611" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173094" "05132" "00230612" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173095" "05132" "00230613" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173096" "05132" "00230614" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173097" "05132" "00230615" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173098" "05132" "00230616" "00687" "Unknown" "" "Male proband ESRD at 30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173099" "05132" "00230617" "00687" "Unknown" "" "Male proband ESRD at 16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173100" "05132" "00230618" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173101" "05132" "00230619" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173102" "05132" "00230620" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173103" "05132" "00230621" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173104" "05132" "00230622" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173105" "05132" "00230623" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173106" "05132" "00230624" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173107" "05132" "00230625" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173108" "05132" "00230626" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173109" "05132" "00230627" "00687" "Unknown" "" "a5(IV)-negative" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ASXL" "Alport syndrome" "" "0000173110" "05132" "00230628" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173111" "05132" "00230629" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173112" "05132" "00230630" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173113" "05132" "00230631" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173114" "05132" "00230632" "00687" "Unknown" "" "Male proband ESRD at 13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173115" "05132" "00230633" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173116" "05132" "00230634" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173117" "05132" "00230635" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173118" "05132" "00230636" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173119" "05132" "00230637" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173120" "05132" "00230638" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173121" "05132" "00230639" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185628" "01076" "00245760" "03128" "Familial, X-linked" "" "Persistent microhaematuria, absent proteinuria. Normal audiological and ophthalmoscopic evaluation" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000203420" "02210" "00265633" "03364" "Familial, X-linked" "08y" "hematuria, proteinuria" "06y" "" "08y" "hematuria" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrom" "hereditary nephritis" "" "0000244361" "05132" "00325874" "03107" "Familial, X-linked" "" "End-stage kidney disease at the age of 23\r\nLiving kidney transplantation at the age of 26" "" "" "" "microhematuria and proteinuria" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000270449" "01361" "00375239" "04087" "Familial, X-linked" "" "" "04y" "" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "Alport Syndrome" "" "" "0000270450" "02210" "00375240" "04087" "Familial, X-linked" "" "" "04y" "" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "Alport Syndrome" "" "" "0000270451" "02210" "00375241" "04087" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport Syndrome X-linked" "" "" "0000270452" "02210" "00375242" "04087" "Unknown" "" "" "08y" "" "72y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000270453" "02210" "00375243" "04087" "Familial, X-linked" "" "HP:0000790" "01y" "" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "Alport Syndrome, X-linked" "" "" "0000271661" "02210" "00376454" "04087" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000283168" "04214" "00389627" "00000" "Familial, X-linked" "38y" "age at genetic diagnosis mentioned" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000288244" "04214" "00395044" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "" "0000288245" "04214" "00395045" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "" "0000288247" "04214" "00395047" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "" "0000288248" "04214" "00395048" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "" "0000288249" "04214" "00395049" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "" "0000288250" "04214" "00395050" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "" "0000294285" "05132" "00401266" "00006" "Unknown" "" "see paper; ..., hematuria, no proteinuria, serum creatinine 67 umol/L" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000294286" "05132" "00401267" "00006" "Familial, X-linked" "" "see paper; ..., hematuria, no proteinuria, serum creatinine 31 umol/L" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000294287" "05132" "00401268" "00006" "Unknown" "" "see paper; ..., hematuria, proteinuria, serum creatinine 78 umol/L" "06y10m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ATS1" "Alport syndrome" "" "0000294288" "05132" "00401269" "00006" "Familial, X-linked" "" "see paper; ..., hematuria, no proteinuria" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000306213" "00198" "00414378" "00000" "Familial, X-linked recessive" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Alport Syndrome" "" "" "0000306214" "00198" "00414379" "00000" "Familial, X-linked recessive" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Alport Syndrome" "" "" "0000306226" "00198" "00414391" "00000" "Familial, X-linked recessive" "22y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Alport Syndrome" "" "" "0000306256" "00198" "00414421" "00000" "Familial, X-linked recessive" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Alport Syndrome" "" "" "0000306283" "00198" "00414448" "00000" "Familial, X-linked recessive" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Alport Syndrome" "" "" "0000306294" "00198" "00414459" "00000" "Familial, X-linked recessive" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Alport Syndrome" "" "" "0000306302" "00198" "00414467" "00000" "Familial, X-linked recessive" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Alport Syndrome" "" "" "0000306314" "00198" "00414479" "00000" "Familial, X-linked recessive" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Alport Syndrome" "" "" "0000310829" "00198" "00419548" "02300" "Isolated (sporadic)" "24y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "renal abnormality" "" "0000310925" "00198" "00419644" "02300" "Isolated (sporadic)" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "renal abnormality" "" "0000310926" "00198" "00419645" "02300" "Isolated (sporadic)" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "renal abnormality" "" "0000310927" "00198" "00419646" "02300" "Isolated (sporadic)" "10m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "renal abnormality" "" "0000334133" "00296" "00444883" "00006" "Unknown" "" "monocular, nuclear cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" "0000335741" "00296" "00446532" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000336103" "01076" "00446899" "04609" "Familial, X-linked" "6" "No microscopic hematuria, no proteinuria, no kidney failure, no reductio of kidney functionality" "" "" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "Alport Syndrome" "Alport Syndrome" "" "0000340309" "01737" "00451648" "04221" "Familial, autosomal recessive" "" "Mild intellectual disability, cerebral stroke, seizures, renal failure (Unilateral renal transplant). Co-occurrence with Alport syndrome 1" "" "" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "Cystinosis, nephropathic" "Cystinosis" "" "0000351016" "05086" "00465468" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000351017" "05086" "00465469" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000351182" "02210" "00465644" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351183" "02210" "00465645" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351184" "02210" "00465646" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351185" "02210" "00465647" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351186" "02210" "00465648" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351187" "02210" "00465649" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351188" "02210" "00465650" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351189" "02210" "00465651" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351190" "02210" "00465652" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351191" "02210" "00465653" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351192" "02210" "00465654" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351193" "02210" "00465655" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351194" "02210" "00465656" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351195" "02210" "00465657" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351196" "02210" "00465658" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351197" "02210" "00465659" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351198" "02210" "00465660" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351199" "02210" "00465661" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351200" "02210" "00465662" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351201" "02210" "00465663" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351202" "02210" "00465664" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351203" "02210" "00465665" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351204" "02210" "00465666" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351205" "02210" "00465667" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351207" "02210" "00465669" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351208" "02210" "00465670" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351209" "02210" "00465671" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351210" "02210" "00465672" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351211" "02210" "00465673" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351212" "02210" "00465674" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351213" "02210" "00465675" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351214" "02210" "00465676" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351215" "02210" "00465677" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351216" "02210" "00465678" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351217" "02210" "00465679" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351218" "02210" "00465680" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351219" "02210" "00465681" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351220" "02210" "00465682" "04100" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2307 "{{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" "" "" "0000081023" "00080911" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000092521" "00092353" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:34" "SEQ" "DNA" "" "" "0000092522" "00092354" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:34" "SEQ" "DNA" "" "" "0000092523" "00092355" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:35" "SEQ" "DNA" "" "" "0000092524" "00092356" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:34" "SSCA" "DNA" "" "" "0000092525" "00092357" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:34" "SEQ" "DNA" "" "" "0000092526" "00092358" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:34" "SEQ" "DNA" "" "" "0000092527" "00092359" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2013-01-02 00:19:34" "SEQ" "DNA" "" "" "0000092528" "00092360" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:34" "SSCA" "DNA" "" "" "0000092529" "00092361" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:34" "SEQ" "DNA" "" "" "0000092530" 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07:23:26" "SSCA;SEQ" "DNA" "" "" "0000093609" "00093441" "1" "00687" "00687" "2013-03-22 05:56:30" "00687" "2013-03-22 07:23:26" "SSCA;SEQ" "DNA" "" "" "0000093610" "00093442" "1" "00687" "00687" "2013-03-22 05:56:30" "00687" "2013-03-22 07:23:26" "SSCA;SEQ" "DNA" "" "" "0000093611" "00093443" "1" "00687" "00687" "2013-03-22 05:56:30" "00687" "2013-03-22 07:23:26" "SSCA;SEQ" "DNA" "" "" "0000093612" "00093444" "1" "00687" "00687" "2013-03-22 05:56:30" "00687" "2013-03-22 07:23:26" "SSCA;SEQ" "DNA" "" "" "0000093613" "00093445" "1" "00687" "00687" "2013-03-22 05:56:30" "00687" "2013-03-22 07:23:26" "?" "DNA" "" "" "0000093614" "00093446" "1" "00687" "00687" "2013-03-22 05:56:30" "00006" "2016-12-30 15:07:40" "arrayCGH;MLPA;RT-PCR" "DNA;RNA" "" "" "0000093615" "00093447" "1" "00687" "00687" "2013-03-22 05:56:30" "00006" "2016-12-30 14:22:33" "arrayCGH;MLPA;RT-PCR" "DNA;RNA" "" "" "0000093616" "00093448" "1" "00687" "00687" "2013-03-22 05:56:30" "00006" "2016-12-30 15:04:27" "arrayCGH;MLPA;RT-PCR" "DNA;RNA" "" "" "0000093617" "00093449" "1" "00687" "00687" "2013-03-22 05:56:30" "00687" "2013-03-22 07:23:26" "RT-PCR;SEQ;PCRdig" "RNA;DNA" "" "" "0000093618" "00093450" "1" "00687" "00687" "2013-03-22 05:56:30" "00687" "2013-03-22 07:23:26" "RT-PCR;SEQ;PCRdig" "RNA;DNA" "" "" "0000093619" "00093451" "1" "00687" "00687" "2013-03-22 05:56:30" "00687" "2013-03-22 07:23:26" "RT-PCR;SEQ;PCRdig" "RNA;DNA" "" "" "0000093620" "00093452" "1" "00687" "00687" "2013-03-22 05:56:30" "00687" "2013-03-22 07:23:26" "RT-PCR;SEQ;PCRdig" "RNA;DNA" "" "" "0000093621" "00093453" "1" "00687" "00687" "2013-03-22 07:23:07" "00687" "2013-03-22 07:23:26" "SEQ" "DNA" "" "" "0000093622" "00093454" "1" "00687" "00687" "2013-03-22 07:23:07" "00687" "2013-03-22 07:23:26" "SEQ" "DNA" "" "" "0000093623" "00093455" "1" "00687" "00687" "2013-03-22 07:23:07" "00006" "2016-12-30 14:46:13" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000093624" "00093456" "1" "00687" "00687" "2013-03-22 07:23:07" "00687" "2013-03-22 07:23:26" "MLPA" "RNA" "" "" "0000093625" "00093457" "1" "00687" "00687" "2013-03-22 07:23:07" "00687" "2013-03-22 07:23:26" "MLPA" "RNA" "" "" "0000093626" "00093458" "1" "00687" "00687" "2013-03-22 07:23:07" "00006" "2016-12-30 14:55:50" "MLPA" "DNA" "" "" "0000093627" "00093459" "1" "00687" "00687" "2013-03-22 07:23:07" "00687" "2013-03-22 07:23:26" "RT-PCR;SEQ;Western" "RNA;protein" "" "" "0000093628" "00093460" "1" "00687" "00687" "2013-03-22 07:23:07" "00687" "2013-03-22 07:23:26" "SEQ" "DNA" "" "" "0000093629" "00093461" "1" "00687" "00687" "2013-03-22 07:23:07" "00006" "2016-12-30 14:05:30" 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"2013-12-23 07:09:37" "" "" "MLPA" "DNA" "" "" "0000093641" "00093473" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093642" "00093474" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093643" "00093475" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093644" "00093476" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093645" "00093477" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093646" "00093478" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093647" "00093479" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093648" "00093480" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093649" "00093481" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093650" "00093482" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093651" "00093483" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093652" "00093484" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093653" "00093485" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093654" "00093486" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093655" "00093487" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093656" "00093488" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093657" "00093489" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093658" "00093490" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093659" "00093491" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093660" "00093492" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093661" "00093493" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093662" "00093494" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093663" "00093495" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093664" "00093496" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093665" "00093497" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093666" "00093498" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093667" "00093499" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093668" "00093500" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093669" "00093501" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093670" "00093502" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093671" "00093503" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093672" "00093504" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093673" "00093505" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093674" "00093506" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093675" "00093507" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093676" "00093508" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093677" "00093509" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093678" "00093510" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "MLPA" "DNA" "" "" "0000093679" "00093511" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093680" "00093512" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093681" "00093513" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093682" "00093514" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093683" "00093515" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093684" "00093516" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093685" "00093517" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093686" "00093518" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093687" "00093519" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093688" "00093520" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093689" "00093521" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093690" "00093522" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093691" "00093523" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093692" "00093524" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093693" "00093525" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093694" "00093526" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093695" "00093527" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093696" "00093528" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093697" "00093529" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093698" "00093530" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093699" "00093531" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093700" "00093532" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093701" "00093533" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093702" "00093534" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093703" "00093535" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093704" "00093536" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093705" "00093537" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093706" "00093538" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093707" "00093539" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093708" "00093540" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093709" "00093541" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093710" "00093542" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093711" "00093543" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093712" "00093544" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "MLPA" "DNA" "" "" "0000093713" "00093545" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093714" "00093546" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093715" "00093547" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093716" "00093548" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093717" "00093549" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093718" "00093550" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093719" "00093551" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093720" "00093552" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093721" "00093553" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093722" "00093554" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093723" "00093555" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093724" "00093556" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093725" "00093557" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093726" "00093558" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093727" "00093559" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093728" "00093560" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093729" "00093561" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093730" "00093562" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093731" "00093563" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093732" "00093564" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093733" "00093565" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093734" "00093566" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093735" "00093567" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093736" "00093568" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093737" "00093569" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093738" "00093570" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093739" "00093571" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093740" "00093572" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093741" "00093573" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093742" "00093574" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093743" "00093575" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093744" "00093576" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093745" "00093577" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093746" "00093578" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093747" "00093579" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093748" "00093580" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093749" "00093581" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093750" "00093582" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093751" "00093583" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093752" "00093584" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093753" "00093585" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093754" "00093586" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093755" "00093587" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "MLPA" "DNA" "" "" "0000093756" "00093588" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093757" "00093589" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093758" "00093590" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093759" "00093591" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093760" "00093592" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093761" "00093593" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093762" "00093594" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093763" "00093595" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093764" "00093596" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093765" "00093597" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093766" "00093598" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093767" "00093599" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093768" "00093600" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093769" "00093601" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093770" "00093602" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093771" "00093603" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093772" "00093604" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093773" "00093605" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093774" "00093606" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093775" "00093607" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093776" "00093608" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093777" "00093609" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093778" "00093610" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093779" "00093611" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093780" "00093612" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093781" "00093613" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093782" "00093614" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093783" "00093615" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093784" "00093616" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093785" "00093617" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093786" "00093618" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093787" "00093619" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093788" "00093620" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093789" "00093621" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093790" "00093622" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093791" "00093623" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093792" "00093624" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093793" "00093625" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093794" "00093626" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093795" "00093627" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093796" "00093628" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093797" "00093629" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093798" "00093630" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093799" "00093631" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093800" "00093632" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093801" "00093633" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093802" "00093634" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093803" "00093635" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093804" "00093636" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093805" "00093637" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093806" "00093638" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093807" "00093639" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093808" "00093640" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093809" "00093641" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093810" "00093642" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093811" "00093643" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093812" "00093644" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093813" "00093645" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093814" "00093646" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093815" "00093647" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093816" "00093648" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093817" "00093649" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093818" "00093650" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093819" "00093651" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093820" "00093652" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093821" "00093653" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093822" "00093654" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093823" "00093655" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093824" "00093656" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093825" "00093657" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093826" "00093658" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093827" "00093659" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093828" "00093660" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093829" "00093661" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093830" "00093662" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093831" "00093663" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093832" "00093664" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093833" "00093665" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093834" "00093666" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093835" "00093667" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093836" "00093668" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093837" "00093669" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093838" "00093670" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093839" "00093671" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093840" "00093672" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093841" "00093673" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093842" "00093674" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093843" "00093675" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093844" "00093676" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093845" "00093677" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093846" "00093678" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093847" "00093679" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093848" "00093680" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093849" "00093681" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093850" "00093682" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093851" "00093683" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093852" "00093684" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093853" "00093685" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093854" "00093686" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093855" "00093687" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093856" "00093688" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093857" "00093689" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093858" "00093690" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093859" "00093691" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093860" "00093692" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093861" "00093693" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093862" "00093694" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093863" "00093695" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093864" "00093696" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093865" "00093697" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093866" "00093698" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093867" "00093699" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093868" "00093700" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093869" "00093701" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093870" "00093702" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093871" "00093703" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093872" "00093704" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093873" "00093705" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093874" "00093706" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093875" "00093707" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093876" "00093708" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093877" "00093709" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093878" "00093710" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093879" "00093711" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093880" "00093712" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093881" "00093713" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093882" "00093714" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093883" "00093715" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093884" "00093716" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093885" "00093717" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093886" "00093718" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093887" "00093719" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093888" "00093720" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093889" "00093721" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093890" "00093722" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093891" "00093723" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093892" "00093724" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093893" "00093725" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093894" "00093726" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093895" "00093727" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093896" "00093728" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093897" "00093729" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093898" "00093730" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093899" "00093731" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093900" "00093732" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093901" "00093733" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093902" "00093734" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093903" "00093735" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093904" "00093736" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093905" "00093737" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093906" "00093738" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093907" "00093739" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093908" "00093740" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093909" "00093741" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093910" "00093742" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093911" "00093743" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093912" "00093744" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093913" "00093745" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093914" "00093746" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093915" "00093747" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093916" "00093748" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093917" "00093749" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093918" "00093750" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093919" "00093751" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093920" "00093752" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093921" "00093753" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093922" "00093754" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093923" "00093755" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093924" "00093756" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093925" "00093757" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093926" "00093758" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093927" "00093759" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093928" "00093760" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093929" "00093761" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093930" "00093762" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093931" "00093763" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093932" "00093764" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093933" "00093765" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093934" "00093766" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093935" "00093767" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093936" "00093768" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093937" "00093769" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093938" "00093770" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093939" "00093771" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093940" "00093772" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093941" "00093773" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093942" "00093774" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093943" "00093775" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093944" "00093776" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093945" "00093777" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093946" "00093778" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093947" "00093779" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093948" "00093780" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093949" "00093781" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093950" "00093782" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093951" "00093783" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093952" "00093784" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093953" "00093785" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093954" "00093786" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093955" "00093787" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093956" "00093788" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093957" "00093789" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093958" "00093790" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093959" "00093791" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093960" "00093792" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093961" "00093793" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093962" "00093794" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093963" "00093795" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093964" "00093796" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093965" "00093797" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093966" "00093798" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093967" "00093799" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093968" "00093800" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093969" "00093801" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093970" "00093802" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093971" "00093803" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093972" "00093804" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093973" "00093805" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093974" "00093806" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093975" "00093807" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093976" "00093808" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093977" "00093809" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093978" "00093810" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093979" "00093811" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093980" "00093812" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093981" "00093813" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093982" "00093814" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093983" "00093815" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093984" "00093816" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093985" "00093817" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093986" "00093818" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093987" "00093819" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093988" "00093820" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093989" "00093821" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093990" "00093822" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093991" "00093823" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093992" "00093824" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093993" "00093825" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093994" "00093826" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093995" "00093827" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093996" "00093828" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093997" "00093829" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093998" "00093830" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000093999" "00093831" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094000" "00093832" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094001" "00093833" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094002" "00093834" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094003" "00093835" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094004" "00093836" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094005" "00093837" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094006" "00093838" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094007" "00093839" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094008" "00093840" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094009" "00093841" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094010" "00093842" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094011" "00093843" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094012" "00093844" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094013" "00093845" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094014" "00093846" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094015" "00093847" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094016" "00093848" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094017" "00093849" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094018" "00093850" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094019" "00093851" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094020" "00093852" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094021" "00093853" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094022" "00093854" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094023" "00093855" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094024" "00093856" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094025" "00093857" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094026" "00093858" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094027" "00093859" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094028" "00093860" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094029" "00093861" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094030" "00093862" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094031" "00093863" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094032" "00093864" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094033" "00093865" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094034" "00093866" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094035" "00093867" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094036" "00093868" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094037" "00093869" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094038" "00093870" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094039" "00093871" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094040" "00093872" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094041" "00093873" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094042" "00093874" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094043" "00093875" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094044" "00093876" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094045" "00093877" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094046" "00093878" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094047" "00093879" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094048" "00093880" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094049" "00093881" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094050" "00093882" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094051" "00093883" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094052" "00093884" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094053" "00093885" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094054" "00093886" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094055" "00093887" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094056" "00093888" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094057" "00093889" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094058" "00093890" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094059" "00093891" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094060" "00093892" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094061" "00093893" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094062" "00093894" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094063" "00093895" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094064" "00093896" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094065" "00093897" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094066" "00093898" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094067" "00093899" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094068" "00093900" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094069" "00093901" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094070" "00093902" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094071" "00093903" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094072" "00093904" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094073" "00093905" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094074" "00093906" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094075" "00093907" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094076" "00093908" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094077" "00093909" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094078" "00093910" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094079" "00093911" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094080" "00093912" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094081" "00093913" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094082" "00093914" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094083" "00093915" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094084" "00093916" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094085" "00093917" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094086" "00093918" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094087" "00093919" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094088" "00093920" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094089" "00093921" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094090" "00093922" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094091" "00093923" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094092" "00093924" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094093" "00093925" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094094" "00093926" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094095" "00093927" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094096" "00093928" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094097" "00093929" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094098" "00093930" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094099" "00093931" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094100" "00093932" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094101" "00093933" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094102" "00093934" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094103" "00093935" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094104" "00093936" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094105" "00093937" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094106" "00093938" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094107" "00093939" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094108" "00093940" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094109" "00093941" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094110" "00093942" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094111" "00093943" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094112" "00093944" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094113" "00093945" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094114" "00093946" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094115" "00093947" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094116" "00093948" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094117" "00093949" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094118" "00093950" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094119" "00093951" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094120" "00093952" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094121" "00093953" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094122" "00093954" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094123" "00093955" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094124" "00093956" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094125" "00093957" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094126" "00093958" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094127" "00093959" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094128" "00093960" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094129" "00093961" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094130" "00093962" "1" "00687" "00687" "2013-12-23 07:09:37" "" "" "SEQ" "DNA" "" "" "0000094131" "00093963" "1" "01547" "01547" "2014-04-09 10:37:09" "00687" "2015-06-22 04:08:40" "SEQ" "DNA" "" "" "0000094132" "00093964" "1" "01547" "01547" "2014-04-09 10:39:45" "" "" "SEQ" "DNA" "" "" "0000094133" "00093965" "1" "01546" "01546" "2014-08-14 11:34:27" "" "" "SEQ" "DNA" "" "" "0000094134" "00093966" "1" "01546" "01546" "2014-08-15 16:03:27" "" "" "SEQ" "DNA" "" "" "0000094135" "00093967" "1" "01546" "01546" "2014-08-15 16:12:10" "" "" "SEQ" "DNA" "" "" "0000094136" "00093968" "1" "01546" "01546" "2014-08-15 16:18:10" "" "" "SEQ" "DNA" "" "" "0000094137" "00093969" "1" "01546" "01546" "2014-08-15 16:29:04" "" "" "SEQ" "DNA" "" "" "0000094138" "00093970" "1" "01546" "01546" "2014-08-15 16:42:12" "" "" "SEQ" "DNA" "" "" "0000094139" "00093971" "1" "01546" "01546" "2014-08-15 17:12:18" "" "" "MLPA" "DNA" "" "" "0000094140" "00093972" "1" "01546" "01546" "2014-08-15 17:16:24" "" "" "MLPA" "DNA" "" "" "0000094141" "00093973" "1" "01546" "01546" "2014-08-15 17:27:37" "" "" "SEQ" "DNA" "" "" "0000094142" "00093974" "1" "01546" "01546" "2014-08-15 17:33:04" "" "" "SEQ" "DNA" "" "" "0000094143" "00093975" "1" "01546" "01546" "2014-08-15 17:37:05" "" "" "SEQ" "DNA" "" "" "0000094144" "00093976" "1" "01546" "01546" "2014-08-15 17:42:33" "" "" "SEQ" "DNA" "" "" "0000094145" "00093977" "1" "01546" "01546" "2014-08-15 17:48:20" "00006" "2016-12-30 17:07:48" "MLPA" "DNA" "" "" "0000094146" "00093978" "1" "01546" "01546" "2014-08-15 17:52:32" "" "" "SEQ" "DNA" "" "" "0000094147" "00093979" "1" "01546" "01546" "2014-08-15 17:56:36" "" "" "MLPA" "DNA" "" "" "0000094148" "00093980" "1" "01546" "01546" "2014-08-15 18:01:36" "" "" "SEQ" "DNA" "" "" "0000094149" "00093981" "1" "01546" "01546" "2014-08-15 18:07:38" "" "" "SEQ" "DNA" "" "" "0000094150" "00093982" "1" "01546" "01546" "2014-08-15 18:11:40" "" "" "SEQ" "DNA" "" "" "0000094151" "00093983" "1" "01546" "01546" "2014-08-15 20:20:42" "" "" "SEQ" "DNA" "" "" "0000094152" "00093984" "1" "01546" "01546" "2014-08-15 20:25:34" "" "" "SEQ" "DNA" "" "" "0000094153" "00093985" "1" "01546" "01546" "2014-08-15 20:30:28" "" "" "SEQ" "DNA" "" "" "0000094154" "00093986" "1" "01546" "01546" "2014-08-15 20:34:58" "" "" "SEQ" "DNA" "" "" "0000094155" "00093987" "1" "01548" "01548" "2015-06-19 21:45:55" "" "" "SEQ" "DNA" "" "" "0000094156" "00093988" "1" "01548" "01548" "2015-06-19 21:51:14" "" "" "SEQ" "DNA" "" "" "0000094157" "00093989" "1" "01548" "01548" "2015-06-19 21:53:32" "" "" "SEQ" "DNA" "" "" "0000094158" "00093990" "1" "01548" "01548" "2015-06-19 21:57:04" "" "" "SEQ" "DNA" "" "" "0000094159" "00093991" "1" "01548" "01548" "2015-06-19 22:00:01" "" "" "SEQ" "DNA" "" "" "0000094160" "00093992" "1" "01548" "01548" "2015-06-19 22:02:32" "" "" "SEQ" "DNA" "" "" "0000094161" "00093993" "1" "00687" "00687" "2012-01-13 06:52:51" "00687" "2012-01-17 01:21:35" "SSCA;SEQ" "DNA" "" "" "0000094162" "00093994" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:36" "SSCA;SEQ" "DNA" "" "" "0000094163" "00093995" "1" "00687" "00687" "2012-01-13 06:52:51" "00687" "2012-01-17 01:21:35" "SSCA;SEQ" "DNA" "" "" "0000094164" "00093996" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2013-01-14 06:26:36" "SEQ;Southern;SSCA" "DNA" "" "" "0000094165" "00093997" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:36" "SEQ" "DNA" "" "" "0000094166" "00093998" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:36" "SEQ" "DNA" "" "" "0000094167" "00093999" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:36" "SEQ" "DNA" "" "" "0000094168" "00094000" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:36" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000094169" "00094001" "1" "00687" "00687" "2013-03-22 05:56:30" "00687" "2013-03-22 07:23:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000094170" "00094002" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:36" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000094171" "00094003" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:35" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000094172" "00094004" "1" "00687" "00687" "2012-01-13 06:52:50" "00687" "2012-01-17 01:21:35" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104461" "00103990" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000150986" "00150131" "1" "02367" "02367" "2018-01-12 18:52:30" "" "" "SEQ" "DNA" "blood" "" "0000152821" "00151964" "1" "02367" "02367" "2018-01-28 13:36:39" "" "" "SEQ" "DNA" "blood" "" "0000152903" "00152046" "1" "02367" "02367" "2018-02-02 10:14:33" "" "" "SEQ" "DNA" "blood" "" "0000152978" "00152121" "1" "02367" "02367" "2018-02-02 10:49:37" "" "" "SEQ" "DNA" "blood" "" "0000152979" "00152122" "1" "02367" "02367" "2018-02-02 11:22:37" "" "" "SEQ" "DNA" "blood" "" "0000152986" "00152129" "1" "02367" "02367" "2018-02-02 12:23:35" "" "" "SEQ" "DNA" "blood" "" "0000153397" "00152540" "1" "02367" "02367" "2018-02-02 20:57:29" "" "" "SEQ" "DNA" "blood" "" "0000153398" "00152541" "1" "02367" "02367" "2018-02-02 21:13:41" "" "" "SEQ" "DNA" "blood" "" "0000153457" "00152599" "1" "02367" "02367" "2018-02-04 19:57:26" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel (COL4A3, COL4A4, COL4A5, CFHR5, MYH9)" "0000153458" "00152600" "1" "02367" "02367" "2018-02-04 20:12:36" "" "" "SEQ" "DNA" "blood" "" "0000153459" "00152601" "1" "02367" "02367" "2018-02-04 20:26:45" "" "" "SEQ" 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"blood" "bisulfite sequencing" "0000153877" "00153014" "1" "02367" "02367" "2018-02-09 21:21:29" "" "" "MLPA;SEQ" "DNA" "blood" "" "0000154170" "00153307" "1" "02367" "02367" "2018-02-12 18:43:46" "" "" "MLPA;SEQ" "DNA" "blood" "" "0000154180" "00153317" "1" "02367" "02367" "2018-02-14 15:27:20" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel (COL4A3, COL4A4, COL4A5 )" "0000154181" "00153318" "1" "02367" "02367" "2018-02-14 15:52:43" "" "" "MLPA;SEQ" "DNA" "blood" "" "0000154186" "00153322" "1" "02367" "02367" "2018-02-14 20:47:24" "" "" "MLPA;SEQ-NG-I" "DNA" "blood" "gene panel (COL4A3, COL4A4, COL4A5, CFHR5, MYH9)" "0000154257" "00153396" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154259" "00153398" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154260" "00153399" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154264" "00153403" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154267" 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"2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154378" "00153517" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154379" "00153518" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154380" "00153519" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154381" "00153520" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154382" "00153521" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154383" "00153522" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154385" "00153524" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154387" "00153526" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154389" "00153528" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154393" "00153532" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154395" "00153534" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154396" "00153535" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154397" "00153536" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154399" "00153538" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154402" "00153541" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154403" "00153542" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154405" "00153544" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154408" "00153547" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154412" "00153551" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154413" "00153552" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154416" "00153555" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154422" "00153561" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154426" "00153565" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154427" "00153566" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154428" "00153567" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154431" "00153570" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154433" "00153572" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154435" "00153574" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154437" "00153576" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154439" "00153578" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154440" "00153579" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154441" "00153580" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154443" "00153582" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154444" "00153583" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154447" "00153586" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154450" "00153589" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154451" "00153590" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154454" "00153593" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154457" "00153596" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154458" "00153597" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154459" "00153598" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154469" "00153608" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154473" "00153612" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154475" "00153614" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154476" "00153615" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154477" "00153616" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154479" "00153618" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154481" "00153620" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154485" "00153624" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154489" "00153628" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154490" "00153629" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154491" "00153630" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154495" "00153634" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154496" "00153635" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154497" "00153636" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154498" "00153637" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154500" "00153639" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154502" "00153641" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154505" "00153644" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154506" "00153645" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154512" "00153651" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154514" "00153653" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154515" "00153654" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154516" "00153655" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154517" "00153656" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154519" "00153658" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154520" "00153659" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154521" "00153660" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154522" "00153661" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154523" "00153662" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154525" "00153664" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154529" "00153668" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154531" "00153670" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154534" "00153673" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154535" "00153674" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154538" "00153677" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154540" "00153679" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154849" "00153988" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "MLPA" "DNA" "blood" "" "0000154850" "00153989" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "MLPA" "DNA" "blood" "" "0000154851" "00153990" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "MLPA" "DNA" "blood" "" "0000154852" "00153991" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "MLPA" "DNA" "blood" "" "0000154853" "00153992" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "MLPA" "DNA" "blood" "" "0000154854" "00153993" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154855" "00153994" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000154856" "00153995" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154857" "00153996" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154858" "00153997" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154859" "00153998" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154860" "00153999" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154861" "00154000" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154862" "00154001" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154863" "00154002" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154864" "00154003" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154865" "00154004" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154866" "00154005" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154867" "00154006" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154868" "00154007" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154869" "00154008" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154870" "00154009" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154871" "00154010" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154872" "00154011" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154873" "00154012" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000154874" "00154013" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154875" "00154014" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154876" "00154015" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154877" "00154016" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154878" "00154017" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154879" "00154018" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154880" "00154019" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000154881" "00154020" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154882" "00154021" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154883" "00154022" "1" "00687" "00006" "2018-02-19 09:42:17" "00006" "2018-02-24 22:12:19" "RT-PCR;SEQ" "DNA;RNA" "blood leukocytes, kidneys, and/or hair roots" "" "0000154884" "00154023" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154885" "00154024" "1" "00687" "00006" "2018-02-19 09:42:17" "00006" "2018-02-25 09:59:57" "RT-PCR;SEQ" "DNA;RNA" "blood leukocytes, kidneys, and/or hair roots" "" "0000154886" "00154025" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154887" "00154026" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000154888" "00154027" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154889" "00154028" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154892" "00154031" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154893" "00154032" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000154894" "00154033" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154895" "00154034" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "segregation analysis" "0000154896" "00154035" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154897" "00154036" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "partial sequencing of 51 exons of COL4A5" "0000154898" "00154037" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154899" "00154038" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154900" "00154039" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154901" "00154040" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "PCR/direct sequencing" "0000154902" "00154041" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154903" "00154042" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154904" "00154043" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154905" "00154044" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154906" "00154045" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154907" "00154046" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154908" "00154047" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154909" "00154048" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154910" "00154049" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154911" "00154050" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154912" "00154051" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154913" "00154052" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154914" "00154053" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154915" "00154054" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154916" "00154055" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000154917" "00154056" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154918" "00154057" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154919" "00154058" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154920" "00154059" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154921" "00154060" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154922" "00154061" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154923" "00154062" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154924" "00154063" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154925" "00154064" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154926" "00154065" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154927" "00154066" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000154928" "00154067" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154929" "00154068" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154930" "00154069" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154931" "00154070" "1" "00687" "00006" "2018-02-19 09:42:17" "00006" "2018-02-24 22:32:03" "RT-PCR;SEQ" "DNA;RNA" "blood leukocytes, kidneys, and/or hair roots" "" "0000154932" "00154071" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154933" "00154072" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154934" "00154073" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154935" "00154074" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154936" "00154075" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154937" "00154076" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154938" "00154077" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154939" "00154078" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154940" "00154079" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154941" "00154080" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000154942" "00154081" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154943" "00154082" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154944" "00154083" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154945" "00154084" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154946" "00154085" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154947" "00154086" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154948" "00154087" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154949" "00154088" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154950" "00154089" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154951" "00154090" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154952" "00154091" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154953" "00154092" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154954" "00154093" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154955" "00154094" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154956" "00154095" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154957" "00154096" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154958" "00154097" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154959" "00154098" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "PCRdig" "DNA" "blood" "linkage analysis" "0000154961" "00154100" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154962" "00154101" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154963" "00154102" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154964" "00154103" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154965" "00154104" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154966" "00154105" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154967" "00154106" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154968" "00154107" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154969" "00154108" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "PCRdig" "DNA" "blood" "linkage analysis" "0000154970" "00154109" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154971" "00154110" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000154972" "00154111" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154973" "00154112" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "linkage analysis" "0000154974" "00154113" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000154977" "00154116" "1" "00687" "00006" "2018-02-19 09:42:17" "00006" "2018-02-24 22:22:43" "RT-PCR;SEQ" "DNA;RNA" "blood leukocytes, kidneys, and/or hair roots" "" "0000154978" "00154117" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154979" "00154118" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154980" "00154119" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154981" "00154120" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000154982" "00154121" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154983" "00154122" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000154984" "00154123" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154985" "00154124" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154986" "00154125" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000154987" "00154126" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000154990" "00154129" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154991" "00154130" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154992" "00154131" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154993" "00154132" "1" "00687" "00006" "2018-02-19 09:42:17" "00006" "2018-02-25 09:42:31" "RT-PCR;SEQ" "DNA;RNA" "blood leukocytes, kidneys, and/or hair roots" "" "0000154994" "00154133" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000154995" "00154134" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154996" "00154135" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000154997" "00154136" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154998" "00154137" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000154999" "00154138" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155000" "00154139" "1" "00687" "00006" "2018-02-19 09:42:17" "00006" "2018-02-25 09:39:10" "RT-PCR;SEQ" "DNA;RNA" "blood leukocytes, kidneys, and/or hair roots" "" "0000155001" "00154140" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155002" "00154141" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155003" "00154142" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155004" "00154143" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155005" "00154144" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155006" "00154145" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155007" "00154146" "1" "00687" "00006" "2018-02-19 09:42:17" "00006" "2018-02-25 09:45:58" "RT-PCR;SEQ" "DNA;RNA" "blood leukocytes, kidneys, and/or hair roots" "" "0000155008" "00154147" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155009" "00154148" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000155010" "00154149" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155011" "00154150" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155012" "00154151" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000155013" "00154152" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155014" "00154153" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155015" "00154154" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155016" "00154155" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155017" "00154156" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155018" "00154157" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155019" "00154158" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155020" "00154159" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155022" "00154161" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155023" "00154162" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "segregation analysis" "0000155025" "00154164" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000155026" "00154165" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155027" "00154166" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155028" "00154167" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155029" "00154168" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "PCR+ and direct sequencing of genomic DNA of all exons and exon-intron boundaries" "0000155030" "00154169" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood, urine" "" "0000155031" "00154170" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000155032" "00154171" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155033" "00154172" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000155034" "00154173" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155035" "00154174" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155036" "00154175" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000155037" "00154176" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155038" "00154177" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155039" "00154178" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155040" "00154179" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "PCRdig" "DNA" "blood" "linkage analysis" "0000155041" "00154180" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155042" "00154181" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155043" "00154182" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155044" "00154183" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000155045" "00154184" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155046" "00154185" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155047" "00154186" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155048" "00154187" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000155049" "00154188" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155050" "00154189" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155051" "00154190" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155052" "00154191" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155053" "00154192" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155054" "00154193" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155055" "00154194" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155056" "00154195" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155057" "00154196" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000155058" "00154197" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155059" "00154198" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155060" "00154199" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155061" "00154200" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000155062" "00154201" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155063" "00154202" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155064" "00154203" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155065" "00154204" "1" "00687" "00006" "2018-02-19 09:42:17" "00006" "2018-02-24 22:26:20" "RT-PCR;SEQ" "DNA;RNA" "blood leukocytes, kidneys, and/or hair roots" "" "0000155066" "00154205" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155067" "00154206" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155068" "00154207" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155069" "00154208" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155070" "00154209" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155071" "00154210" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155072" "00154211" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155073" "00154212" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155074" "00154213" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155075" "00154214" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155076" "00154215" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000155077" "00154216" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000155078" "00154217" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155079" "00154218" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155080" "00154219" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155081" "00154220" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155082" "00154221" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155083" "00154222" "1" "00687" "00006" "2018-02-19 09:42:17" "00006" "2018-02-25 09:49:27" "RT-PCR;SEQ" "DNA;RNA" "Blood leukocytes, kidneys, and/or hair roots" "" "0000155084" "00154223" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155085" "00154224" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155086" "00154225" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155087" "00154226" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155088" "00154227" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155089" "00154228" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155090" "00154229" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000155091" "00154230" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155092" "00154231" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000155093" "00154232" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155094" "00154233" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155095" "00154234" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155096" "00154235" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155097" "00154236" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000155098" "00154237" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155099" "00154238" "1" "00687" "00006" "2018-02-19 09:42:17" "00006" "2018-02-24 22:12:53" "RT-PCR;SEQ" "DNA;RNA" "blood leukocytes, kidneys, and/or hair roots" "" "0000155100" "00154239" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155101" "00154240" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155102" "00154241" "1" "00687" "00006" "2018-02-19 09:42:17" "00006" "2018-02-24 22:13:36" "RT-PCR;SEQ" "DNA;RNA" "blood leukocytes, kidneys, and/or hair roots" "" "0000155103" "00154242" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155104" "00154243" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155105" "00154244" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155106" "00154245" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155107" "00154246" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155108" "00154247" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155109" "00154248" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155110" "00154249" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155111" "00154250" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155112" "00154251" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000155113" "00154252" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155114" "00154253" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155115" "00154254" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155116" "00154255" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155117" "00154256" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155118" "00154257" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155119" "00154258" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155120" "00154259" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155121" "00154260" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155122" "00154261" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155123" "00154262" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155124" "00154263" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155125" "00154264" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000155126" "00154265" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155127" "00154266" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155128" "00154267" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155129" "00154268" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155130" "00154269" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155131" "00154270" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155132" "00154271" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155133" "00154272" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155134" "00154273" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155135" "00154274" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155136" "00154275" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155137" "00154276" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155138" "00154277" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155139" "00154278" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155140" "00154279" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155141" "00154280" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155142" "00154281" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155143" "00154282" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155144" "00154283" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155145" "00154284" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155146" "00154285" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155147" "00154286" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155148" "00154287" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155149" "00154288" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155150" "00154289" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155151" "00154290" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155152" "00154291" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155153" "00154292" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155154" "00154293" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155155" "00154294" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155156" "00154295" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155157" "00154296" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155158" "00154297" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155159" "00154298" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155160" "00154299" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155161" "00154300" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155162" "00154301" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155163" "00154302" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155164" "00154303" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155165" "00154304" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155166" "00154305" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155167" "00154306" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155168" "00154307" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155169" "00154308" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155170" "00154309" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155171" "00154310" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155172" "00154311" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155173" "00154312" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155174" "00154313" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155175" "00154314" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155176" "00154315" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155177" "00154316" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155178" "00154317" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155179" "00154318" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155180" "00154319" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155181" "00154320" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155182" "00154321" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155183" "00154322" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155184" "00154323" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155185" "00154324" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155186" "00154325" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155187" "00154326" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155188" "00154327" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155189" "00154328" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155190" "00154329" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155191" "00154330" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155192" "00154331" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155193" "00154332" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155194" "00154333" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155195" "00154334" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155196" "00154335" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155197" "00154336" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155198" "00154337" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155199" "00154338" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155200" "00154339" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155201" "00154340" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155202" "00154341" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155203" "00154342" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155204" "00154343" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155205" "00154344" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155206" "00154345" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155207" "00154346" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155208" "00154347" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155209" "00154348" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155210" "00154349" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155211" "00154350" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155212" "00154351" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155213" "00154352" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155214" "00154353" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155215" "00154354" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155216" "00154355" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155217" "00154356" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155218" "00154357" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155219" "00154358" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155220" "00154359" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155221" "00154360" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155222" "00154361" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155223" "00154362" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155224" "00154363" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155225" "00154364" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155226" "00154365" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155227" "00154366" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155228" "00154367" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155229" "00154368" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155230" "00154369" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155231" "00154370" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155232" "00154371" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155233" "00154372" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155234" "00154373" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155235" "00154374" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155236" "00154375" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155237" "00154376" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155238" "00154377" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000174796" "00173906" "1" "01873" "01873" "2018-04-25 17:09:54" "" "" "SEQ" "DNA" "" "" "0000219168" "00218099" "1" "02476" "02476" "2019-01-22 16:32:13" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000227326" "00226254" "1" "01741" "01741" "2019-03-05 14:41:14" "" "" "SEQ" "DNA" "" "" "0000231686" "00230590" "1" "00687" "00687" "2019-04-17 04:39:55" "" "" "?" "DNA" "" "" "0000231687" "00230591" "1" "00687" "00687" "2019-04-17 04:48:19" "" "" "?" "DNA" "" "" "0000231688" "00230592" "1" "00687" "00687" "2019-04-17 04:55:13" "" "" "?" "DNA" "" "" "0000231689" "00230593" "1" "00687" "00687" "2019-04-17 04:59:44" "" "" "?" "DNA" "" "" "0000231690" "00230594" "1" "00687" "00687" "2019-04-17 05:04:40" "" "" "?" "DNA" "" "" "0000231691" "00230595" "1" "00687" "00687" "2019-04-17 05:08:42" "" "" "?" "DNA" "" "" "0000231692" "00230596" "1" "00687" "00687" "2019-04-17 05:12:14" "" "" "?" "DNA" "" "" "0000231693" "00230597" "1" "00687" "00687" "2019-04-17 05:16:08" "" "" "?" "DNA" "" "" "0000231694" "00230598" "1" "00687" "00687" "2019-04-17 05:19:36" "" "" "?" "DNA" "" "" "0000231695" "00230599" "1" "00687" "00687" "2019-04-17 05:24:42" "" "" "?" "DNA" "" "" "0000231696" "00230600" "1" "00687" "00687" "2019-04-17 05:30:21" "" "" "?" "DNA" "" "" "0000231697" "00230601" "1" "00687" "00687" "2019-04-17 05:34:16" "" "" "?" "DNA" "" "" "0000231698" "00230602" "1" "00687" "00687" "2019-04-17 05:39:20" "" "" "?" "DNA" "" "" "0000231699" "00230603" "1" "00687" "00687" "2019-04-17 05:42:53" "" "" "?" "DNA" "" "" "0000231700" "00230604" "1" "00687" "00687" "2019-04-17 05:46:30" "" "" "?" "DNA" "" "" "0000231701" "00230605" "1" "00687" "00687" "2019-04-17 05:50:57" "" "" "?" "DNA" "" "" "0000231702" "00230606" "1" "00687" "00687" "2019-04-17 05:54:15" "" "" "?" "DNA" "" "" "0000231703" "00230607" "1" "00687" "00687" "2019-04-17 05:57:29" "" "" "?" "DNA" "" "" "0000231704" "00230608" "1" "00687" "00687" "2019-04-17 06:00:11" "" "" "?" "DNA" "" "" "0000231705" "00230609" "1" "00687" "00687" "2019-04-17 06:03:24" "" "" "?" "DNA" "" "" "0000231706" "00230610" "1" "00687" "00687" "2019-04-17 06:06:17" "" "" "?" "DNA" "" "" "0000231707" "00230611" "1" "00687" "00687" "2019-04-17 06:10:19" "" "" "?" "DNA" "" "" "0000231708" "00230612" "1" "00687" "00687" "2019-04-17 06:13:12" "" "" "?" "DNA" "" "" "0000231709" "00230613" "1" "00687" "00687" "2019-04-17 06:16:21" "" "" "?" "DNA" "" "" "0000231710" "00230614" "1" "00687" "00687" "2019-04-17 06:20:29" "" "" "?" "DNA" "" "" "0000231711" "00230615" "1" "00687" "00687" "2019-04-17 06:24:11" "" "" "?" "DNA" "" "" "0000231712" "00230616" "1" "00687" "00687" "2019-04-17 06:59:12" "" "" "?" "DNA" "" "" "0000231713" "00230617" "1" "00687" "00687" "2019-04-17 07:03:14" "" "" "?" "DNA" "" "" "0000231714" "00230618" "1" "00687" "00687" "2019-04-17 07:06:57" "" "" "?" "DNA" "" "" "0000231715" "00230619" "1" "00687" "00687" "2019-04-17 07:12:33" "" "" "?" "DNA" "" "" "0000231716" "00230620" "1" "00687" "00687" "2019-04-17 07:15:45" "" "" "?" "DNA" "" "" "0000231717" "00230621" "1" "00687" "00687" "2019-04-17 07:21:54" "" "" "?" "DNA" "" "" "0000231718" "00230622" "1" "00687" "00687" "2019-04-17 07:25:15" "" "" "?" "DNA" "" "" "0000231719" "00230623" "1" "00687" "00687" "2019-04-17 07:28:20" "" "" "?" "DNA" "" "" "0000231720" "00230624" "1" "00687" "00687" "2019-04-17 07:32:08" "" "" "?" "DNA" "" "" "0000231721" "00230625" "1" "00687" "00687" "2019-04-17 07:36:10" "" "" "?" "DNA" "" "" "0000231722" "00230626" "1" "00687" "00687" "2019-04-17 07:38:27" "" "" "?" "DNA" "" "" "0000231723" "00230627" "1" "00687" "00687" "2019-04-17 07:41:21" "" "" "?" "DNA" "" "" "0000231724" "00230628" "1" "00687" "00687" "2019-04-17 07:44:37" "" "" "?" "DNA" "" "" "0000231725" "00230629" "1" "00687" "00687" "2019-04-17 07:47:39" "" "" "?" "DNA" "" "" "0000231726" "00230630" "1" "00687" "00687" "2019-04-17 07:50:37" "" "" "?" "DNA" "" "" "0000231727" "00230631" "1" "00687" "00687" "2019-04-17 07:53:20" "" "" "?" "DNA" "" "" "0000231728" "00230632" "1" "00687" "00687" "2019-04-17 07:56:12" "" "" "?" "DNA" "" "" "0000231729" "00230633" "1" "00687" "00687" "2019-04-17 07:59:21" "" "" "?" "DNA" "" "" "0000231730" "00230634" "1" "00687" "00687" "2019-04-17 08:07:57" "" "" "?" "DNA" "" "" "0000231731" "00230635" "1" "00687" "00687" "2019-04-17 08:16:53" "" "" "?" "DNA" "" "" "0000231732" "00230636" "1" "00687" "00687" "2019-04-17 08:21:42" "" "" "?" "DNA" "" "" "0000231733" "00230637" "1" "00687" "00687" "2019-04-17 08:26:07" "" "" "?" "DNA" "" "" "0000231734" "00230638" "1" "00687" "00687" "2019-04-17 08:29:41" "" "" "?" "DNA" "" "" "0000231735" "00230639" "1" "00687" "00687" "2019-04-17 08:32:49" "" "" "?" "DNA" "" "" "0000246871" "00245760" "1" "03128" "03128" "2019-07-08 10:19:21" "" "" "SEQ-NG-IT" "DNA" "" "" "0000266756" "00265633" "1" "03364" "03364" "2019-09-29 17:50:37" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "gene panel" "0000296096" "00294928" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297764" "00296654" "1" "02367" "02367" "2020-04-09 11:25:27" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297765" "00296655" "1" "02367" "02367" "2020-04-09 11:38:16" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297766" "00296656" "1" "02367" "02367" "2020-04-09 11:54:02" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000306392" "00305263" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306393" "00305264" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309925" "00308780" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000327084" "00325874" "1" "03107" "03107" "2021-01-04 17:45:54" "" "" "PCR" "DNA" "blood" "" "0000376433" "00375239" "1" "04087" "04087" "2021-06-01 14:10:00" "" "" "SEQ-NG" "DNA" "Blood" "" "0000376434" "00375240" "1" "04087" "04087" "2021-06-01 14:27:17" "" "" "SEQ-NG" "DNA" "Blood" "" "0000376435" "00375241" "1" "04087" "04087" "2021-06-01 14:37:08" "" "" "SEQ-NG" "DNA" "Blood" "" "0000376436" "00375242" "1" "04087" "04087" "2021-06-01 14:49:05" "" "" "SEQ-NG" "DNA" "Blood" "" "0000376437" "00375243" "1" "04087" "04087" "2021-06-01 14:55:14" "" "" "SEQ-NG" "DNA" "Blood" "" "0000377659" "00376454" "1" "04087" "04087" "2021-06-23 14:51:27" "" "" "SEQ-NG" "DNA" "Blood" "" "0000381441" "00380226" "1" "04152" "04152" "2021-08-13 11:04:45" "" "" "SEQ-NG" "DNA" "" "" "0000381631" "00380417" "1" "04152" "04152" "2021-08-17 07:26:18" "" "" "SEQ-NG" "DNA" "" "" "0000381632" "00380418" "1" "04152" "04152" "2021-08-17 07:38:10" "" "" "SEQ-NG" "DNA" "" "" "0000381633" "00380419" "1" "04152" "04152" "2021-08-17 07:43:32" "" "" "SEQ-NG" "DNA" "" "" "0000390870" "00389627" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000396290" "00395044" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396291" "00395045" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396293" "00395047" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396294" "00395048" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396295" "00395049" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396296" "00395050" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000402510" "00401266" "1" "00006" "00006" "2022-01-30 14:02:52" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000402511" "00401267" "1" "00006" "00006" "2022-01-30 14:13:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000402512" "00401268" "1" "00006" "00006" "2022-01-30 14:19:15" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000402513" "00401269" "1" "00006" "00006" "2022-01-30 14:28:23" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000415658" "00414378" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415659" "00414379" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415671" "00414391" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415701" "00414421" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415728" "00414448" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415739" "00414459" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415747" "00414467" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415759" "00414479" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000420852" "00419548" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420948" "00419644" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420949" "00419645" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420950" "00419646" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000446452" "00444883" "1" "00006" "00006" "2023-12-28 14:50:54" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448105" "00446532" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448106" "00446533" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448474" "00446899" "1" "04609" "04609" "2024-01-25 15:39:20" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000452809" "00451210" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000453252" "00451648" "1" "04221" "04221" "2024-06-20 21:08:50" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000467117" "00465468" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467118" "00465469" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467291" "00465644" "1" "04100" "04100" "2025-06-04 07:02:58" "" "" "SEQ-NG" "DNA" "" "" "0000467292" "00465645" "1" "04100" "04100" "2025-06-04 08:02:19" "" "" "SEQ-NG" "DNA" "" "" "0000467294" "00465646" "1" "04100" "04100" "2025-06-04 08:10:01" "" "" "SEQ-NG" "DNA" "" "" "0000467295" "00465647" "1" "04100" "04100" "2025-06-04 08:25:29" "" "" "SEQ-NG" "DNA" "" "" "0000467296" "00465648" "1" "04100" "04100" "2025-06-04 09:19:14" "" "" "SEQ-NG" "DNA" "" "" "0000467297" "00465649" "1" "04100" "04100" "2025-06-04 10:16:43" "" "" "SEQ-NG" "DNA" "" "" "0000467299" "00465650" "1" "04100" "04100" "2025-06-04 10:20:59" "" "" "SEQ-NG" "DNA" "" "" "0000467300" "00465651" "1" "04100" "04100" "2025-06-04 10:30:26" "" "" "SEQ-NG" "DNA" "" "" "0000467301" "00465652" "1" "04100" "04100" "2025-06-04 10:40:44" "" "" "SEQ-NG" "DNA" "" "" "0000467302" "00465653" "1" "04100" "04100" "2025-06-04 10:49:40" "" "" "SEQ-NG" "DNA" "" "" "0000467303" "00465654" "1" "04100" "04100" "2025-06-04 11:00:58" "" "" "SEQ-NG" "DNA" "" "" "0000467304" "00465655" "1" "04100" "04100" "2025-06-04 11:05:24" "" "" "SEQ-NG" "DNA" "" "" "0000467305" "00465656" "1" "04100" "04100" "2025-06-04 11:10:18" "" "" "SEQ-NG" "DNA" "" "" "0000467306" "00465657" "1" "04100" "04100" "2025-06-04 11:21:47" "" "" "SEQ-NG" "DNA" "" "" "0000467307" "00465658" "1" "04100" "04100" "2025-06-04 11:29:20" "" "" "SEQ-NG" "DNA" "" "" "0000467308" "00465659" "1" "04100" "04100" "2025-06-04 11:32:05" "" "" "SEQ-NG" "DNA" "" "" "0000467309" "00465660" "1" "04100" "04100" "2025-06-04 11:35:14" "" "" "SEQ-NG" "DNA" "" "" "0000467310" "00465661" "1" "04100" "04100" "2025-06-04 11:40:20" "" "" "SEQ-NG" "DNA" "" "" "0000467311" "00465662" "1" "04100" "04100" "2025-06-04 11:43:57" "" "" "SEQ-NG" "DNA" "" "" "0000467312" "00465663" "1" "04100" "04100" "2025-06-04 11:47:51" "" "" "SEQ-NG" "DNA" "" "" "0000467313" "00465664" "1" "04100" "04100" "2025-06-04 11:52:32" "" "" "SEQ-NG" "DNA" "" "" "0000467315" "00465665" "1" "04100" "04100" "2025-06-04 11:58:46" "" "" "SEQ-NG" "DNA" "" "" "0000467316" "00465666" "1" "04100" "04100" "2025-06-04 12:01:46" "" "" "SEQ-NG" "DNA" "" "" "0000467317" "00465667" "1" "04100" "04100" "2025-06-04 12:05:34" "" "" "SEQ-NG" "DNA" "" "" "0000467319" "00465669" "1" "04100" "04100" "2025-06-05 05:18:31" "" "" "SEQ-NG" "DNA" "" "" "0000467320" "00465670" "1" "04100" "04100" "2025-06-05 05:21:58" "" "" "SEQ-NG" "DNA" "" "" "0000467321" "00465671" "1" "04100" "04100" "2025-06-05 05:25:28" "" "" "SEQ-NG" "DNA" "" "" "0000467322" "00465672" "1" "04100" "04100" "2025-06-05 05:29:22" "" "" "SEQ-NG" "DNA" "" "" "0000467323" "00465673" "1" "04100" "04100" "2025-06-05 05:32:24" "" "" "SEQ-NG" "DNA" "" "" "0000467324" "00465674" "1" "04100" "04100" "2025-06-05 05:38:24" "" "" "SEQ-NG" "DNA" "" "" "0000467325" "00465675" "1" "04100" "04100" "2025-06-05 05:40:57" "" "" "SEQ-NG" "DNA" "" "" "0000467326" "00465676" "1" "04100" "04100" "2025-06-05 05:44:01" "" "" "SEQ-NG" "DNA" "" "" "0000467327" "00465677" "1" "04100" "04100" "2025-06-05 05:46:58" "" "" "SEQ-NG" "DNA" "" "" "0000467328" "00465678" "1" "04100" "04100" "2025-06-05 05:49:35" "" "" "SEQ-NG" "DNA" "" "" "0000467329" "00465679" "1" "04100" "04100" "2025-06-05 05:51:46" "" "" "SEQ-NG" "DNA" "" "" "0000467330" "00465680" "1" "04100" "04100" "2025-06-05 05:55:15" "" "" "SEQ-NG" "DNA" "" "" "0000467331" "00465681" "1" "04100" "04100" "2025-06-05 05:58:38" "" "" "SEQ-NG" "DNA" "" "" "0000467332" "00465682" "1" "04100" "04100" "2025-06-05 06:02:52" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2400 "{{screeningid}}" "{{geneid}}" "0000081023" "COL4A5" "0000092521" "COL4A5" "0000092522" "COL4A5" "0000092523" "COL4A5" "0000092524" "COL4A5" "0000092525" "COL4A5" "0000092526" "COL4A5" "0000092527" "COL4A5" "0000092528" "COL4A5" "0000092529" "COL4A5" "0000092530" "COL4A5" "0000092531" "COL4A5" "0000092532" "COL4A5" "0000092533" "COL4A5" "0000092534" "COL4A5" "0000092535" "COL4A5" "0000092536" "COL4A5" "0000092537" "COL4A5" "0000092538" "COL4A5" "0000092539" "COL4A5" "0000092540" "COL4A5" "0000092541" "COL4A5" "0000092542" "COL4A5" "0000092543" "COL4A5" "0000092544" "COL4A5" "0000092545" "COL4A5" "0000092546" "COL4A5" "0000092547" "COL4A5" "0000092548" "COL4A5" "0000092549" "COL4A5" "0000092550" "COL4A5" "0000092551" "COL4A5" "0000092552" "COL4A5" "0000092553" "COL4A5" "0000092554" "COL4A5" "0000092555" "COL4A5" "0000092556" "COL4A5" "0000092557" "COL4A5" "0000092558" "COL4A5" "0000092559" "COL4A5" "0000092560" "COL4A5" "0000092561" "COL4A5" "0000092562" "COL4A5" "0000092563" "COL4A5" "0000092564" "COL4A5" "0000092565" "COL4A5" "0000092566" "COL4A5" "0000092567" "COL4A5" "0000092568" "COL4A5" "0000092569" "COL4A5" "0000092570" "COL4A5" "0000092571" "COL4A5" "0000092572" "COL4A5" "0000092573" "COL4A5" "0000092574" "COL4A5" "0000092575" "COL4A5" "0000092576" "COL4A5" "0000092577" "COL4A5" "0000092578" "COL4A5" "0000092579" "COL4A5" "0000092580" "COL4A5" "0000092581" "COL4A5" "0000092582" "COL4A5" "0000092583" "COL4A5" "0000092584" "COL4A5" "0000092585" "COL4A5" "0000092586" "COL4A5" "0000092587" "COL4A5" "0000092588" "COL4A5" "0000092589" "COL4A5" "0000092590" "COL4A5" "0000092591" "COL4A5" "0000092592" "COL4A5" "0000092593" "COL4A5" "0000092594" "COL4A5" "0000092595" "COL4A5" "0000092596" "COL4A5" "0000092597" "COL4A5" "0000092598" "COL4A5" "0000092599" "COL4A5" "0000092600" "COL4A5" "0000092601" "COL4A5" "0000092602" "COL4A5" "0000092603" "COL4A5" "0000092604" "COL4A5" "0000092605" "COL4A5" "0000092606" "COL4A5" "0000092607" "COL4A5" "0000092608" "COL4A5" "0000092609" "COL4A5" "0000092610" "COL4A5" "0000092611" "COL4A5" "0000092612" "COL4A5" "0000092613" "COL4A5" "0000092614" "COL4A5" "0000092615" "COL4A5" "0000092616" "COL4A5" "0000092617" "COL4A5" "0000092618" "COL4A5" "0000092619" "COL4A5" "0000092620" "COL4A5" "0000092621" "COL4A5" "0000092622" "COL4A5" "0000092623" "COL4A5" "0000092624" "COL4A5" "0000092625" "COL4A5" "0000092626" "COL4A5" "0000092627" "COL4A5" "0000092628" "COL4A5" "0000092629" "COL4A5" "0000092630" "COL4A5" "0000092631" "COL4A5" "0000092632" "COL4A5" "0000092633" "COL4A5" "0000092634" "COL4A5" "0000092635" "COL4A5" "0000092636" "COL4A5" "0000092637" "COL4A5" 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"0000154973" "COL4A5" "0000154974" "COL4A5" "0000154977" "COL4A5" "0000154978" "COL4A5" "0000154979" "COL4A5" "0000154980" "COL4A5" "0000154981" "COL4A5" "0000154982" "COL4A5" "0000154983" "COL4A5" "0000154984" "COL4A5" "0000154985" "COL4A5" "0000154986" "COL4A5" "0000154987" "COL4A5" "0000154990" "COL4A5" "0000154991" "COL4A5" "0000154992" "COL4A5" "0000154993" "COL4A5" "0000154994" "COL4A5" "0000154995" "COL4A5" "0000154996" "COL4A5" "0000154997" "COL4A5" "0000154998" "COL4A5" "0000154999" "COL4A5" "0000155000" "COL4A5" "0000155001" "COL4A5" "0000155002" "COL4A5" "0000155003" "COL4A5" "0000155004" "COL4A5" "0000155005" "COL4A5" "0000155006" "COL4A5" "0000155007" "COL4A5" "0000155008" "COL4A5" "0000155009" "COL4A5" "0000155010" "COL4A5" "0000155011" "COL4A5" "0000155012" "COL4A5" "0000155013" "COL4A5" "0000155014" "COL4A5" "0000155015" "COL4A5" "0000155016" "COL4A5" "0000155017" "COL4A5" "0000155018" "COL4A5" "0000155019" "COL4A5" "0000155020" "COL4A5" "0000155022" "COL4A5" "0000155023" "COL4A5" "0000155025" "COL4A5" "0000155026" "COL4A5" "0000155027" "COL4A5" "0000155028" "COL4A5" "0000155029" "COL4A5" "0000155030" "COL4A5" "0000155031" "COL4A5" "0000155032" "COL4A5" "0000155033" "COL4A5" "0000155034" "COL4A5" "0000155035" "COL4A5" "0000155036" "COL4A5" "0000155037" "COL4A5" "0000155038" "COL4A5" "0000155039" "COL4A5" "0000155040" "COL4A5" "0000155041" "COL4A5" "0000155042" "COL4A5" "0000155043" "COL4A5" "0000155044" "COL4A5" "0000155045" "COL4A5" "0000155046" "COL4A5" "0000155047" "COL4A5" "0000155048" "COL4A5" "0000155049" "COL4A5" "0000155050" "COL4A5" "0000155051" "COL4A5" "0000155052" "COL4A5" "0000155053" "COL4A5" "0000155054" "COL4A5" "0000155055" "COL4A5" "0000155056" "COL4A5" "0000155057" "COL4A5" "0000155058" "COL4A5" "0000155059" "COL4A5" "0000155060" "COL4A5" "0000155061" "COL4A5" "0000155062" "COL4A5" "0000155063" "COL4A5" "0000155064" "COL4A5" "0000155065" "COL4A5" "0000155066" "COL4A5" "0000155067" "COL4A5" "0000155068" "COL4A5" "0000155069" "COL4A5" "0000155070" "COL4A5" "0000155071" "COL4A5" "0000155072" "COL4A5" "0000155073" "COL4A5" "0000155074" "COL4A5" "0000155075" "COL4A5" "0000155076" "COL4A5" "0000155077" "COL4A5" "0000155078" "COL4A5" "0000155079" "COL4A5" "0000155080" "COL4A5" "0000155081" "COL4A5" "0000155082" "COL4A5" "0000155083" "COL4A5" "0000155084" "COL4A5" "0000155085" "COL4A5" "0000155086" "COL4A5" "0000155087" "COL4A5" "0000155088" "COL4A5" "0000155089" "COL4A5" "0000155090" "COL4A5" "0000155091" "COL4A5" "0000155092" "COL4A5" "0000155093" "COL4A5" "0000155094" "COL4A5" "0000155095" "COL4A5" "0000155096" "COL4A5" "0000155097" "COL4A5" "0000155098" "COL4A5" "0000155099" "COL4A5" "0000155100" "COL4A5" "0000155101" "COL4A5" "0000155102" "COL4A5" "0000155103" "COL4A5" "0000155104" "COL4A5" "0000155105" "COL4A5" "0000155106" "COL4A5" "0000155107" "COL4A5" "0000155108" "COL4A5" "0000155109" "COL4A5" "0000155110" "COL4A5" "0000155111" "COL4A5" "0000155112" "COL4A5" "0000155113" "COL4A5" "0000155114" "COL4A5" "0000155115" "COL4A5" "0000155116" "COL4A5" "0000155117" "COL4A5" "0000155118" "COL4A5" "0000155119" "COL4A5" "0000155120" "COL4A5" "0000155121" "COL4A5" "0000155122" "COL4A5" "0000155123" "COL4A5" "0000155124" "COL4A5" "0000155125" "COL4A5" "0000155126" "COL4A5" "0000155127" "COL4A5" "0000155128" "COL4A5" "0000155129" "COL4A5" "0000155130" "COL4A5" "0000155131" "COL4A5" "0000155132" "COL4A5" "0000155133" "COL4A5" "0000155134" "COL4A5" "0000155135" "COL4A5" "0000155136" "COL4A5" "0000155137" "COL4A5" "0000155138" "COL4A5" "0000155139" "COL4A5" "0000155140" "COL4A5" "0000155141" "COL4A5" "0000155142" "COL4A5" "0000155143" "COL4A5" "0000155144" "COL4A5" "0000155145" "COL4A5" "0000155146" "COL4A5" "0000155147" "COL4A5" "0000155148" "COL4A5" "0000155149" "COL4A5" "0000155150" "COL4A5" "0000155151" "COL4A5" "0000155152" "COL4A5" "0000155153" "COL4A5" "0000155154" "COL4A5" "0000155155" "COL4A5" "0000155156" "COL4A5" "0000155157" "COL4A5" "0000155158" "COL4A5" "0000155159" "COL4A5" "0000155160" "COL4A5" "0000155161" "COL4A5" "0000155162" "COL4A5" "0000155163" "COL4A5" "0000155164" "COL4A5" "0000155165" "COL4A5" "0000155166" "COL4A5" "0000155167" "COL4A5" "0000155168" "COL4A5" "0000155169" "COL4A5" "0000155170" "COL4A5" "0000155171" "COL4A5" "0000155172" "COL4A5" "0000155173" "COL4A5" "0000155174" "COL4A5" "0000155175" "COL4A5" "0000155176" "COL4A5" "0000155177" "COL4A5" "0000155178" "COL4A5" "0000155179" "COL4A5" "0000155180" "COL4A5" "0000155181" "COL4A5" "0000155182" "COL4A5" "0000155183" "COL4A5" "0000155184" "COL4A5" "0000155185" "COL4A5" "0000155186" "COL4A5" "0000155187" "COL4A5" "0000155188" "COL4A5" "0000155189" "COL4A5" "0000155190" "COL4A5" "0000155191" "COL4A5" "0000155192" "COL4A5" "0000155193" "COL4A5" "0000155194" "COL4A5" "0000155195" "COL4A5" "0000155196" "COL4A5" "0000155197" "COL4A5" "0000155198" "COL4A5" "0000155199" "COL4A5" "0000155200" "COL4A5" "0000155201" "COL4A5" "0000155202" "COL4A5" "0000155203" "COL4A5" "0000155204" "COL4A5" "0000155205" "COL4A5" "0000155206" "COL4A5" "0000155207" "COL4A5" "0000155208" "COL4A5" "0000155209" "COL4A5" "0000155210" "COL4A5" "0000155211" "COL4A5" "0000155212" "COL4A5" "0000155213" "COL4A5" "0000155214" "COL4A5" "0000155215" "COL4A5" "0000155216" "COL4A5" "0000155217" "COL4A5" "0000155218" "COL4A5" "0000155219" "COL4A5" "0000155220" "COL4A5" "0000155221" "COL4A5" "0000155222" "COL4A5" "0000155223" "COL4A5" "0000155224" "COL4A5" "0000155225" "COL4A5" "0000155226" "COL4A5" "0000155227" "COL4A5" "0000155228" "COL4A5" "0000155229" "COL4A5" "0000155230" "COL4A5" "0000155231" "COL4A5" "0000155232" "COL4A5" "0000155233" "COL4A5" "0000155234" "COL4A5" "0000155235" "COL4A5" "0000155236" "COL4A5" "0000155237" "COL4A5" "0000155238" "COL4A5" "0000174796" "COL4A5" "0000219168" "COL4A5" "0000227326" "COL4A5" "0000231686" "COL4A5" "0000231687" "COL4A5" "0000231688" "COL4A5" "0000231689" "COL4A5" "0000231690" "COL4A5" "0000231691" "COL4A5" "0000231692" "COL4A5" "0000231693" "COL4A5" "0000231694" "COL4A5" "0000231695" "COL4A5" "0000231696" "COL4A5" "0000231697" "COL4A5" "0000231698" "COL4A5" "0000231699" "COL4A5" "0000231700" "COL4A5" "0000231701" "COL4A5" "0000231702" "COL4A5" "0000231703" "COL4A5" "0000231704" "COL4A5" "0000231705" "COL4A5" "0000231706" "COL4A5" "0000231707" "COL4A5" "0000231708" "COL4A5" "0000231709" "COL4A5" "0000231710" "COL4A5" "0000231711" "COL4A5" "0000231712" "COL4A5" "0000231713" "COL4A5" "0000231714" "COL4A5" "0000231715" "COL4A5" "0000231716" "COL4A5" "0000231717" "COL4A5" "0000231718" "COL4A5" "0000231719" "COL4A5" "0000231720" "COL4A5" "0000231721" "COL4A5" "0000231722" "COL4A5" "0000231723" "COL4A5" "0000231724" "COL4A5" "0000231725" "COL4A5" "0000231726" "COL4A5" "0000231727" "COL4A5" "0000231728" "COL4A5" "0000231729" "COL4A5" "0000231730" "COL4A5" "0000231731" "COL4A5" "0000231732" "COL4A5" "0000231733" "COL4A5" "0000231734" "COL4A5" "0000231735" "COL4A5" "0000246871" "COL4A3" "0000246871" "COL4A4" "0000246871" "COL4A5" "0000266756" "COL4A3" "0000266756" "COL4A4" "0000266756" "COL4A5" "0000297764" "CFHR5" "0000297764" "COL4A3" "0000297764" "COL4A4" "0000297764" "COL4A5" "0000297764" "COL4A6" "0000297764" "MYH9" "0000297765" "CFHR5" "0000297765" "COL4A3" "0000297765" "COL4A4" "0000297765" "COL4A5" "0000297765" "COL4A6" "0000297765" "MYH9" "0000297766" "CFHR5" "0000297766" "COL4A3" "0000297766" "COL4A4" "0000297766" "COL4A5" "0000297766" "COL4A6" "0000297766" "MYH9" "0000309925" "COL4A5" "0000327084" "COL4A5" "0000381441" "COL4A1" "0000381441" "COL4A2" "0000381441" "COL4A3" "0000381441" "COL4A4" "0000381441" "COL4A5" "0000381441" "COL4A6" "0000381441" "CUBN" "0000381441" "NPHS1" "0000381441" "NPHS2" "0000381441" "TRPC6" "0000381441" "WT1" "0000381631" "COL4A1" "0000381631" "COL4A2" "0000381631" "COL4A3" "0000381631" "COL4A4" "0000381631" "COL4A5" "0000381631" "NPHS1" "0000381631" "NPHS2" "0000381632" "COL10A1" "0000381632" "COL4A1" "0000381632" "COL4A2" "0000381632" "COL4A3" "0000381632" "COL4A4" "0000381632" "COL4A5" "0000381632" "COL4A6" "0000381632" "NPHS1" "0000381632" "NPHS2" "0000381633" "COL4A1" "0000381633" "COL4A2" "0000381633" "COL4A3" "0000381633" "COL4A4" "0000381633" "COL4A5" "0000381633" "COL4A6" "0000381633" "NPHS1" "0000381633" "NPHS2" "0000390870" "COL4A5" "0000396290" "COL4A5" "0000396291" "COL4A5" "0000396293" "COL4A5" "0000396294" "COL4A5" "0000396295" "COL4A5" "0000396296" "COL4A5" "0000402510" "COL4A5" "0000402511" "COL4A5" "0000402512" "COL4A5" "0000402513" "COL4A5" "0000415658" "COL4A5" "0000415659" "COL4A5" "0000415671" "COL4A5" "0000415701" "COL4A5" "0000415728" "COL4A5" "0000415739" "COL4A5" "0000415747" "COL4A5" "0000415759" "COL4A5" "0000448474" "COL4A3" "0000448474" "COL4A4" "0000448474" "COL4A5" "0000453252" "CTNS" "0000467291" "COL4A5" "0000467292" "COL4A5" "0000467294" "COL4A5" "0000467295" "COL4A5" "0000467296" "COL4A5" "0000467297" "COL4A5" "0000467299" "COL4A5" "0000467300" "COL4A5" "0000467301" "COL4A5" "0000467302" "COL4A5" "0000467303" "COL4A5" "0000467304" "COL4A5" "0000467305" "COL4A5" "0000467306" "COL4A5" "0000467307" "COL4A5" "0000467308" "COL4A5" "0000467309" "COL4A5" "0000467310" "COL4A5" "0000467311" "COL4A5" "0000467312" "COL4A5" "0000467313" "COL4A5" "0000467315" "COL4A5" "0000467316" "COL4A5" "0000467317" "COL4A5" "0000467319" "COL4A5" "0000467320" "COL4A5" "0000467321" "COL4A5" "0000467322" "COL4A5" "0000467323" "COL4A5" "0000467324" "COL4A5" "0000467325" "COL4A5" "0000467326" "COL4A5" "0000467327" "COL4A5" "0000467328" "COL4A5" "0000467329" "COL4A5" "0000467330" "COL4A5" "0000467331" "COL4A5" "0000467332" "COL4A5" ## 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 = 2678 "{{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}}" "0000002096" "0" "30" "X" "107844775" "107844776" "dup" "0" "00037" "COL4A5_001352" "g.107844775_107844776dup" "" "" "" "2041+61_2041+62insTT" "" "Germline" "" "" "0" "" "" "g.108601545_108601546dup" "" "likely benign" "" "0000002097" "0" "30" "X" "107846507" "107846507" "dup" "0" "00037" "COL4A5_001353" "g.107846507dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108603277dup" "" "likely benign" "" "0000002098" "0" "30" "X" "107846506" "107846507" "dup" "0" "00037" "COL4A5_001354" "g.107846506_107846507dup" "" "" "" "2244+216_2244+217insAA" "" "Germline" "" "" "0" "" "" "g.108603276_108603277dup" "" "likely benign" "" "0000003157" "0" "30" "X" "107683501" "107683501" "del" "0" "00037" "COL4A5_001350" "g.107683501del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108440271del" "" "likely benign" "" "0000003158" "20" "30" "X" "107819371" "107819374" "del" "0" "00037" "COL4A5_001351" "g.107819371_107819374del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108576141_108576144del" "" "likely benign" "" "0000007435" "20" "30" "X" "107850335" "107850335" "subst" "0" "00037" "COL4A5_001355" "g.107850335T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108607105T>G" "" "likely benign" "" "0000009559" "20" "30" "X" "107850335" "107850335" "subst" "0" "00037" "COL4A5_001355" "g.107850335T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108607105T>G" "" "likely benign" "" "0000011146" "20" "30" "X" "107819371" "107819374" "del" "0" "00037" "COL4A5_001351" "g.107819371_107819374del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108576141_108576144del" "" "likely benign" "" "0000130109" "21" "70" "X" "107930737" "107930737" "del" "0" "01758" "COL4A5_001356" "g.107930737del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.108687507del" "" "likely pathogenic" "ACMG" "0000150957" "0" "90" "X" "107834411" "107834411" "subst" "0.00478917" "00687" "COL4A5_000403" "g.107834411C>A" "" "{PMID:Tarpey 2009:19377476}" "" "GCT-GAT" "" "Germline" "" "" "0" "" "" "g.108591181C>A" "" "pathogenic" "" "0000150958" "0" "90" "X" "107844666" "107844666" "subst" "0.00798301" "00687" "COL4A5_000002" "g.107844666G>T" "" "{PMID:Tarpey 2009:19377476}" "" "AAG-AAT" "" "Germline" "" "" "0" "" "" "g.108601436G>T" "" "pathogenic" "" "0000150959" "0" "30" "X" "107863550" "107863550" "subst" "7.89133E-5" "00687" "COL4A5_000003" "g.107863550A>G" "" "{PMID:Tarpey 2009:19377476}" "" "G857G" "" "Germline" "" "" "0" "" "" "g.108620320A>G" "" "likely benign" "" "0000150960" "0" "90" "X" "107683368" "107683368" "subst" "0" "00687" "COL4A5_000005" "g.107683368G>T" "" "{PMID:Cruz-Robles 1999:10563487}" "" "213G>T" "" "Germline" "" "" "0" "" "" "g.108440138G>T" "" "pathogenic" "" "0000150961" "0" "90" "X" "107782981" "107782981" "subst" "0" "00687" "COL4A5_000006" "g.107782981C>A" "" "{PMID:Savige 2008:18846626}" "" "tTGC-TGA" "" "Germline" "" "" "0" "" "" "g.108539751C>A" "" "pathogenic" "" "0000150962" "0" "90" "X" "107782984" "107782984" "subst" "0" "00687" "COL4A5_000007" "g.107782984T>G" "" "{PMID:Martin 2000:10862091}" "" "TATg-TAG" "" "Germline" "" "" "0" "" "" "g.108539754T>G" "" "pathogenic" "" "0000150963" "0" "90" "X" "107802294" "107802294" "subst" "0" "00687" "COL4A5_000008" "g.107802294G>A" "" "{PMID:Tan 2010:2801648}" "" "gGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108559064G>A" "" "pathogenic" "" "0000150964" "0" "90" "X" "107802313" "107802313" "subst" "0" "00687" "COL4A5_000009" "g.107802313G>A" "" "{PMID:Turco 1995:08825605}, {OMIM303630:0013}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108559083G>A" "" "pathogenic" "" "0000150965" "0" "90" "X" "107814644" "107814644" "subst" "0" "00687" "COL4A5_000010" "g.107814644G>T" "" "{PMID:Heiskari 1996:08738805}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108571414G>T" "" "pathogenic" "" "0000150966" "0" "90" "X" "107814644" "107814644" "subst" "0" "00687" "COL4A5_000011" "g.107814644G>A" "" "{PMID:Lemmink 1997:09195222}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108571414G>A" "" "pathogenic" "" "0000150967" "0" "90" "X" "107814646" "107814646" "subst" "0" "00687" "COL4A5_000012" "g.107814646G>T" "" "{PMID:Plant 1999:10094548}" "" "aGAA-TAA" "" "Germline" "" "" "0" "" "" "g.108571416G>T" "" "pathogenic" "" "0000150968" "0" "90" "X" "107814688" "107814688" "subst" "0" "00687" "COL4A5_000013" "g.107814688G>A" "" "{PMID:Plant 1999:10094548}" "" "gGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108571458G>A" "" "pathogenic" "" "0000150969" "0" "90" "X" "107816858" "107816858" "subst" "0" "00687" "COL4A5_000014" "g.107816858G>C" "" "{PMID:Renieri 1996:08651296}" "" "aGGA-CGA" "" "Germline" "" "" "0" "" "" "g.108573628G>C" "" "pathogenic" "" "0000150970" "0" "90" "X" "107816867" "107816867" "subst" "0" "00687" "COL4A5_000015" "g.107816867G>C" "" "{PMID:Renieri 1996:08651296}" "" "aGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108573637G>C" "" "pathogenic" "" "0000150971" "0" "90" "X" "107819141" "107819141" "subst" "0" "00687" "COL4A5_000016" "g.107819141G>T" "" "{PMID:Nagel 2005:15954103}" "" "GGC-GTC" "" "Germline" "" "" "0" "" "" "g.108575911G>T" "" "pathogenic" "" "0000150972" "0" "90" "X" "107819167" "107819167" "subst" "0" "00687" "COL4A5_000017" "g.107819167G>A" "" "{PMID:Barker 2001:11223851}" "" "aGGG-AGG" "" "Germline" "" "" "0" "" "" "g.108575937G>A" "" "pathogenic" "" "0000150973" "0" "90" "X" "107819177" "107819177" "subst" "0" "00687" "COL4A5_000018" "g.107819177G>A" "" "{PMID:Hertz 2001:11462238}" "" "786G>A (G168D)" "" "Germline" "" "" "0" "" "" "g.108575947G>A" "" "pathogenic" "" "0000150974" "0" "90" "X" "107819195" "107819195" "subst" "0" "00687" "COL4A5_000019" "g.107819195G>T" "" "{PMID:Hertz 2001:11462238}" "" "804G>T" "" "Germline" "" "" "0" "" "" "g.108575965G>T" "" "pathogenic" "" "0000150975" "0" "90" "X" "107821183" "107821183" "subst" "0" "00687" "COL4A5_000020" "g.107821183G>T" "" "{PMID:Knebelmann 1996:08940267}" "" "GGC-GTC" "" "Germline" "" "" "0" "" "" "g.108577953G>T" "" "pathogenic" "" "0000150976" "0" "90" "X" "107821308" "107821308" "subst" "0" "00687" "COL4A5_000021" "g.107821308G>A" "" "{PMID:Martin 2000:10862091} {PMID:Heiskari 1996:08738805}" "" "gGGG-AGG" "" "Germline" "" "" "0" "" "" "g.108578078G>A" "" "pathogenic" "" "0000150977" "0" "90" "X" "107821309" "107821309" "subst" "0" "00687" "COL4A5_000022" "g.107821309G>T" "" "{PMID:Tazon-Vega 2007:17660027}" "" "647G>T" "" "Germline" "" "" "0" "" "" "g.108578079G>T" "" "pathogenic" "" "0000150978" "0" "90" "X" "107821317" "107821317" "subst" "0" "00687" "COL4A5_000023" "g.107821317G>A" "" "{PMID:Renieri 1996:08651296}" "" "gGGC-AGC" "" "Germline" "" "" "0" "" "" "g.108578087G>A" "" "pathogenic" "" "0000150979" "0" "90" "X" "107821521" "107821521" "subst" "0" "00687" "COL4A5_000024" "g.107821521G>C" "" "{PMID:Knebelmann 1996:08940267}" "" "aGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108578291G>C" "" "pathogenic" "" "0000150980" "0" "90" "X" "107821549" "107821549" "subst" "0" "00687" "COL4A5_000025" "g.107821549G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "GGG-GAG" "" "Germline" "" "" "0" "" "" "g.108578319G>A" "" "pathogenic" "" "0000150981" "0" "90" "X" "107823772" "107823772" "subst" "0" "00687" "COL4A5_000026" "g.107823772G>C" "" "{PMID:Knebelmann 1996:08940267}" "" "tGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108580542G>C" "" "pathogenic" "" "0000150982" "0" "90" "X" "107823773" "107823773" "subst" "0" "00687" "COL4A5_000027" "g.107823773G>A" "" "{PMID:Nagel 2005:15954103}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108580543G>A" "" "pathogenic" "" "0000150983" "0" "90" "X" "107823778" "107823778" "subst" "0" "00687" "COL4A5_000028" "g.107823778C>T" "" "{PMID:Nagel 2005:15954103}" "" "CGA>TGA" "" "Germline" "" "" "0" "" "" "g.108580548C>T" "" "pathogenic" "" "0000150984" "0" "90" "X" "107823936" "107823936" "subst" "0" "00687" "COL4A5_000029" "g.107823936G>T" "" "{PMID:Heiskari 1996:08738805}" "" "tGAG-TAG" "" "Germline" "" "" "0" "" "" "g.108580706G>T" "" "pathogenic" "" "0000150985" "0" "90" "X" "107929326" "107929326" "subst" "0.000371438" "00687" "COL4A5_000187" "g.107929326C>T" "" "{PMID:Guo 1995:07706490}" "" "gCGC-TGC" "" "Germline" "" "" "0" "" "" "g.108686096C>T" "" "pathogenic" "" "0000150986" "0" "90" "X" "107823951" "107823951" "subst" "0" "00687" "COL4A5_000031" "g.107823951G>C" "" "{PMID:Barker 2001:11223851}" "" "aGGA-CGA" "" "Germline" "" "" "0" "" "" "g.108580721G>C" "" "pathogenic" "" "0000150987" "0" "90" "X" "107823952" "107823952" "subst" "0" "00687" "COL4A5_000032" "g.107823952G>T" "" "{PMID:Heiskari 1996:08738805}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108580722G>T" "" "pathogenic" "" "0000150988" "0" "90" "X" "107823961" "107823961" "subst" "0" "00687" "COL4A5_000033" "g.107823961G>A" "" "{PMID:Barker 2001:11223851}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108580731G>A" "" "pathogenic" "" "0000150989" "0" "90" "X" "107824213" "107824213" "subst" "0" "00687" "COL4A5_000034" "g.107824213G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "aGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108580983G>A" "" "pathogenic" "" "0000150990" "0" "90" "X" "107824234" "107824234" "subst" "0" "00687" "COL4A5_000035" "g.107824234G>T" "" "{PMID:Plant 1999:10094548}" "" "aGAA-TAA" "" "Germline" "" "" "0" "" "" "g.108581004G>T" "" "pathogenic" "" "0000150991" "0" "90" "X" "107826132" "107826132" "subst" "0" "00687" "COL4A5_000036" "g.107826132G>C" "" "{PMID:Cheong 2000:10684360}" "" "tGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108582902G>C" "" "pathogenic" "" "0000150992" "0" "90" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "{PMID:Heiskari 1996:08738805}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "pathogenic" "" "0000150993" "0" "90" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000038" "g.107826150G>T" "" "{PMID:Kawai 1996:08648925}" "" "cGGA-TGA" "" "Germline" "" "" "0" "" "" "g.108582920G>T" "" "pathogenic" "" "0000150994" "0" "90" "X" "107826151" "107826151" "subst" "0" "00687" "COL4A5_000039" "g.107826151G>A" "" "{PMID:Renieri 1992:01363780}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108582921G>A" "" "pathogenic" "" "0000150995" "0" "90" "X" "107827715" "107827715" "subst" "0" "00687" "COL4A5_000040" "g.107827715G>T" "" "{PMID:Plant 1999:10094548}" "" "GGC-GTC" "" "Germline" "" "" "0" "" "" "g.108584485G>T" "" "pathogenic" "" "0000150996" "0" "90" "X" "107829906" "107829906" "subst" "0" "00687" "COL4A5_000041" "g.107829906G>A" "" "{PMID:Heiskari 1996:08738805}" "" "GGG-GAG" "" "Germline" "" "" "0" "" "" "g.108586676G>A" "" "pathogenic" "" "0000150997" "0" "90" "X" "107829924" "107829924" "subst" "0" "00687" "COL4A5_000042" "g.107829924G>A" "" "{PMID:Renieri 1996:08651296}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108586694G>A" "" "pathogenic" "" "0000150998" "0" "90" "X" "107829929" "107829929" "subst" "0" "00687" "COL4A5_000043" "g.107829929C>T" "" "{PMID:Renieri 1996:08651296}" "" "gCGA-TGA" "" "Germline" "" "" "0" "" "" "g.108586699C>T" "" "pathogenic" "" "0000150999" "0" "90" "X" "107829933" "107829933" "subst" "0" "00687" "COL4A5_000044" "g.107829933G>C" "" "{PMID:Renieri 1996:08651296}" "" "GGA-GCA" "" "Germline" "" "" "0" "" "" "g.108586703G>C" "" "pathogenic" "" "0000151000" "0" "90" "X" "107829951" "107829951" "subst" "0" "00687" "COL4A5_000045" "g.107829951G>A" "" "{PMID:Tazon-Vega 2007:17660027}" "" "1139G>A" "" "Germline" "" "" "0" "" "" "g.108586721G>A" "" "pathogenic" "" "0000151001" "0" "90" "X" "107829960" "107829960" "subst" "0" "00687" "COL4A5_000046" "g.107829960G>A" "" "{PMID:Kawai 1996:08648925}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108586730G>A" "" "pathogenic" "" "0000151002" "0" "90" "X" "107834321" "107834321" "subst" "0" "00687" "COL4A5_000047" "g.107834321G>A" "" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:07599631}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108591091G>A" "" "pathogenic" "" "0000151003" "0" "90" "X" "107834339" "107834339" "subst" "0" "00687" "COL4A5_000048" "g.107834339G>T" "" "{PMID:Renieri 1996:08651296}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108591109G>T" "" "pathogenic" "" "0000151004" "0" "90" "X" "107834341" "107834341" "subst" "0" "00687" "COL4A5_000049" "g.107834341C>T" "" "{PMID:Martin 1998:09848783}" "" "tCAG-TAG" "" "Germline" "" "" "0" "" "" "g.108591111C>T" "" "pathogenic" "" "0000151005" "0" "90" "X" "107834348" "107834348" "subst" "0" "00687" "COL4A5_000050" "g.107834348G>A" "" "{PMID:Renieri 1996:08651296}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108591118G>A" "" "pathogenic" "" "0000151006" "0" "90" "X" "107834357" "107834357" "subst" "0" "00687" "COL4A5_000051" "g.107834357G>T" "" "{PMID:Knebelmann 1996:08940267}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108591127G>T" "" "pathogenic" "" "0000151007" "0" "90" "X" "107834365" "107834365" "subst" "0" "00687" "COL4A5_000052" "g.107834365G>A" "" "{PMID:Martin 2000:10862091}" "" "tGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108591135G>A" "" "pathogenic" "" "0000151008" "0" "90" "X" "107834381" "107834381" "subst" "0" "00687" "COL4A5_000053" "g.107834381G>T" "" "{PMID:Martin 1998:09848783}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108591151G>T" "" "pathogenic" "" "0000151009" "0" "90" "X" "107834381" "107834381" "subst" "0" "00687" "COL4A5_000054" "g.107834381G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108591151G>A" "" "pathogenic" "" "0000151010" "0" "90" "X" "107834390" "107834390" "subst" "0" "00687" "COL4A5_000055" "g.107834390G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108591160G>A" "" "pathogenic" "" "0000151011" "0" "90" "X" "107834398" "107834398" "subst" "0" "00687" "COL4A5_000056" "g.107834398G>A" "" "{PMID:Nagel 2005:15954103}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108591168G>A" "" "pathogenic" "" "0000151012" "0" "90" "X" "107834408" "107834408" "subst" "0" "00687" "COL4A5_000057" "g.107834408G>A" "" "{PMID:Tazon-Vega 2007:17660027}" "" "1286G>A" "" "Germline" "" "" "0" "" "" "g.108591178G>A" "" "pathogenic" "" "0000151013" "0" "90" "X" "107834848" "107834848" "subst" "0" "00687" "COL4A5_000058" "g.107834848G>A" "" "{PMID:Kawai 1996:08648925}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108591618G>A" "" "pathogenic" "" "0000151014" "0" "90" "X" "107834857" "107834857" "subst" "0" "00687" "COL4A5_000059" "g.107834857G>A" "" "{PMID:Nagel 2005:15954103}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108591627G>A" "" "pathogenic" "" "0000151015" "0" "90" "X" "107834865" "107834865" "subst" "0" "00687" "COL4A5_000060" "g.107834865G>A" "" "{PMID:Plant 1999:10094548}" "" "aGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108591635G>A" "" "pathogenic" "" "0000151016" "0" "90" "X" "107838787" "107838787" "subst" "0" "00687" "COL4A5_000061" "g.107838787G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "GGG-GAG" "" "Germline" "" "" "0" "" "" "g.108595557G>A" "" "pathogenic" "" "0000151017" "0" "90" "X" "107838796" "107838796" "subst" "0" "00687" "COL4A5_000062" "g.107838796G>A" "" "{PMID:Renieri 1996:08651296}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108595566G>A" "" "pathogenic" "" "0000151018" "0" "90" "X" "107838804" "107838804" "subst" "0" "00687" "COL4A5_000063" "g.107838804G>T" "" "{PMID:Knebelmann 1996:08940267}" "" "tGGT-TGT" "" "Germline" "" "" "0" "" "" "g.108595574G>T" "" "pathogenic" "" "0000151019" "0" "90" "X" "107838813" "107838813" "subst" "0" "00687" "COL4A5_000064" "g.107838813G>C" "" "{PMID:Tan 2009:19965530}" "" "aGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108595583G>C" "" "pathogenic" "" "0000151020" "0" "90" "X" "107840272" "107840272" "subst" "0" "00687" "COL4A5_000065" "g.107840272G>T" "" "{PMID:Hertz 2001:11462238} {PMID:Zhou 1992:1352287}" "" "1763G>T" "" "Germline" "" "" "0" "" "" "g.108597042G>T" "" "pathogenic" "" "0000151021" "0" "90" "X" "107840282" "107840282" "subst" "0" "00687" "COL4A5_000066" "g.107840282G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108597052G>A" "" "pathogenic" "" "0000151022" "0" "90" "X" "107840626" "107840626" "subst" "0" "00687" "COL4A5_000067" "g.107840626G>A" "" "{PMID:Tazon-Vega 2007:17660027}" "" "1607G>A" "" "Germline" "" "" "0" "" "" "g.108597396G>A" "" "pathogenic" "" "0000151023" "0" "90" "X" "107840652" "107840652" "subst" "0" "00687" "COL4A5_000068" "g.107840652G>C" "" "{PMID:Plant 1999:10094548}" "" "aGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108597422G>C" "" "pathogenic" "" "0000151024" "0" "90" "X" "107840653" "107840653" "subst" "0" "00687" "COL4A5_000069" "g.107840653G>T" "" "{PMID:Plant 1999:10094548}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108597423G>T" "" "pathogenic" "" "0000151025" "0" "90" "X" "107840691" "107840691" "subst" "0" "00687" "COL4A5_000070" "g.107840691G>C" "" "{PMID:Barker 2001:11223851}" "" "gGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108597461G>C" "" "pathogenic" "" "0000151026" "0" "90" "X" "107840700" "107840700" "subst" "0" "00687" "COL4A5_000071" "g.107840700G>A" "" "{PMID:Plant 1999:10094548}" "" "aGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108597470G>A" "" "pathogenic" "" "0000151027" "0" "90" "X" "107840709" "107840709" "subst" "0" "00687" "COL4A5_000072" "g.107840709G>C" "" "{PMID:Tan 2010:2801648}" "" "GGT-TGT" "" "Germline" "" "" "0" "" "" "g.108597479G>C" "" "pathogenic" "" "0000151028" "0" "90" "X" "107840719" "107840719" "subst" "0" "00687" "COL4A5_000073" "g.107840719G>C" "" "{PMID:Renieri 1996:08651296}" "" "GGA-GCA" "" "Germline" "" "" "0" "" "" "g.108597489G>C" "" "pathogenic" "" "0000151029" "0" "90" "X" "107840737" "107840737" "subst" "0" "00687" "COL4A5_000074" "g.107840737G>A" "" "{PMID:Hertz 2001:11462238}" "" "1920G>A" "" "Germline" "" "" "0" "" "" "g.108597507G>A" "" "pathogenic" "" "0000151030" "0" "90" "X" "107840754" "107840754" "subst" "0" "00687" "COL4A5_000075" "g.107840754G>A" "" "{PMID:Plant 1999:10094548}" "" "tGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108597524G>A" "" "pathogenic" "" "0000151031" "0" "90" "X" "107840755" "107840755" "subst" "0" "00687" "COL4A5_000076" "g.107840755G>A" "" "{PMID:Inoue 1999:10561141}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108597525G>A" "" "pathogenic" "" "0000151032" "0" "90" "X" "107841932" "107841932" "subst" "0" "00687" "COL4A5_000077" "g.107841932G>A" "" "{PMID:Hertz 2001:11462238}" "" "1982G>A" "" "Germline" "" "" "0" "" "" "g.108598702G>A" "" "pathogenic" "" "0000151033" "0" "90" "X" "107841935" "107841935" "subst" "0" "00687" "COL4A5_000078" "g.107841935G>A" "" "{PMID:Hertz 2001:11462238}" "" "1985G>A" "" "Germline" "" "" "0" "" "" "g.108598705G>A" "" "pathogenic" "" "0000151034" "0" "90" "X" "107841960" "107841960" "subst" "0" "00687" "COL4A5_000079" "g.107841960G>T" "" "{PMID:Barker 2001:11223851}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108598730G>T" "" "pathogenic" "" "0000151035" "0" "90" "X" "107841977" "107841977" "subst" "0" "00687" "COL4A5_000080" "g.107841977G>C" "" "{PMID:Knebelmann 1996:08940267}" "" "aGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108598747G>C" "" "pathogenic" "" "0000151036" "0" "90" "X" "107841978" "107841978" "subst" "0" "00687" "COL4A5_000081" "g.107841978G>T" "" "{PMID:Lemmink 1997:09195222}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108598748G>T" "" "pathogenic" "" "0000151037" "0" "70" "X" "107842008" "107842008" "subst" "0" "00687" "COL4A5_000082" "g.107842008C>T" "" "{PMID:Hertz 2001:11462238}" "" "2058C>T" "" "Germline" "" "" "0" "" "" "g.108598778C>T" "" "likely pathogenic" "" "0000151038" "0" "90" "X" "107842013" "107842013" "subst" "0" "00687" "COL4A5_000083" "g.107842013G>T" "" "{PMID:Knebelmann 1996:08940267}" "" "gGGT-TGT" "" "Germline" "" "" "0" "" "" "g.108598783G>T" "" "pathogenic" "" "0000151039" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Barker 2001:11223851}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000151040" "1" "90" "X" "107842029" "107842029" "subst" "0" "00687" "COL4A5_000085" "g.107842029G>C" "" "{PMID:Hertz 2001:11462238}" "" "2079G>C" "" "Germline" "" "" "0" "" "" "g.108598799G>C" "" "pathogenic" "" "0000151041" "0" "90" "X" "107842038" "107842038" "subst" "0" "00687" "COL4A5_000086" "g.107842038G>A" "" "{PMID:Barker 2001:11223851}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108598808G>A" "" "pathogenic" "" "0000151042" "0" "90" "X" "107842047" "107842047" "subst" "0" "00687" "COL4A5_000087" "g.107842047G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108598817G>A" "" "pathogenic" "" "0000151043" "0" "90" "X" "107842049" "107842049" "subst" "0" "00687" "COL4A5_000088" "g.107842049G>A" "" "{PMID:Inoue 1999:10561141}" "" "tGAA-AAA" "" "Germline" "" "" "0" "" "" "g.108598819G>A" "" "pathogenic" "" "0000151044" "0" "90" "X" "107842056" "107842056" "subst" "0" "00687" "COL4A5_000089" "g.107842056G>A" "" "{PMID:Plant 1999:10094548}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108598826G>A" "" "pathogenic" "" "0000151045" "0" "90" "X" "107842064" "107842064" "subst" "0" "00687" "COL4A5_000090" "g.107842064G>A" "" "{PMID:Plant 1999:10094548}" "" "aGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108598834G>A" "" "pathogenic" "" "0000151046" "0" "90" "X" "107842065" "107842065" "subst" "0" "00687" "COL4A5_000091" "g.107842065G>C" "" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:07599631}" "" "GGT-GCT" "" "Germline" "" "" "0" "" "" "g.108598835G>C" "" "pathogenic" "" "0000151047" "0" "90" "X" "107842065" "107842065" "subst" "0" "00687" "COL4A5_000092" "g.107842065G>T" "" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:07599631}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108598835G>T" "" "pathogenic" "" "0000151048" "0" "90" "X" "107844631" "107844631" "subst" "0" "00687" "COL4A5_000093" "g.107844631G>A" "" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:07599631}" "" "aGGG-AGG" "" "Germline" "" "" "0" "" "" "g.108601401G>A" "" "pathogenic" "" "0000151049" "0" "90" "X" "107844680" "107844680" "subst" "0" "00687" "COL4A5_000094" "g.107844680G>C" "" "{PMID:Plant 1999:10094548}" "" "GGT-GCT" "" "Germline" "" "" "0" "" "" "g.108601450G>C" "" "pathogenic" "" "0000151050" "0" "90" "X" "107844697" "107844697" "subst" "0" "00687" "COL4A5_000095" "g.107844697G>A" "" "{PMID:Nagel 2005:15954103}" "" "GGT-AGT" "" "Germline" "" "" "0" "" "" "g.108601467G>A" "" "pathogenic" "" "0000151051" "0" "90" "X" "107845115" "107845115" "subst" "0" "00687" "COL4A5_000096" "g.107845115G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108601885G>A" "" "pathogenic" "" "0000151052" "0" "90" "X" "107845123" "107845123" "subst" "0" "00687" "COL4A5_000097" "g.107845123G>T" "" "{PMID:Plant 1999:10094548}" "" "tGGA-TGA" "" "Germline" "" "" "0" "" "" "g.108601893G>T" "" "pathogenic" "" "0000151053" "0" "90" "X" "107845124" "107845124" "subst" "0" "00687" "COL4A5_000098" "g.107845124G>T" "" "{PMID:Kawai 1996:08648925}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108601894G>T" "" "pathogenic" "" "0000151054" "0" "90" "X" "107845133" "107845133" "subst" "0" "00687" "COL4A5_000099" "g.107845133G>A" "" "{PMID:Plant 1999:10094548}" "" "GGG-GAG" "" "Germline" "" "" "0" "" "" "g.108601903G>A" "" "pathogenic" "" "0000151055" "0" "90" "X" "107845219" "107845219" "subst" "0" "00687" "COL4A5_000100" "g.107845219G>C" "0.37" "{PMID:Kawai 1996:08648925}" "" "aGGC-aCGC" "" "Germline" "" "" "0" "" "" "g.108601989G>C" "" "pathogenic" "" "0000151056" "0" "90" "X" "107846212" "107846212" "subst" "0" "00687" "COL4A5_000101" "g.107846212G>A" "" "{PMID:Barker 2001:11223851}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108602982G>A" "" "pathogenic" "" "0000151057" "0" "30" "X" "107846262" "107846262" "subst" "0.00111952" "00687" "COL4A5_000102" "g.107846262C>G" "" "{PMID:Inoue 1999:10561141}" "" "tCCT-GCT" "" "Germline" "" "" "0" "" "" "g.108603032C>G" "" "likely benign" "" "0000151058" "0" "90" "X" "107846262" "107846262" "subst" "0" "00687" "COL4A5_000103" "g.107846262C>T" "" "{PMID:Cheong 2000:10684360}" "" "tCCT-TCT" "" "Germline" "" "" "0" "" "" "g.108603032C>T" "" "pathogenic" "" "0000151059" "0" "90" "X" "107846266" "107846266" "subst" "0" "00687" "COL4A5_000104" "g.107846266G>A" "" "{PMID:Kawai 1996:08648925}" "" "GGG-GAG" "" "Germline" "" "" "0" "" "" "g.108603036G>A" "" "pathogenic" "" "0000151060" "0" "90" "X" "107846275" "107846275" "subst" "0" "00687" "COL4A5_000105" "g.107846275G>A" "" "{PMID:Plant 1999:10094548}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108603045G>A" "" "pathogenic" "" "0000151061" "0" "90" "X" "107850014" "107850014" "subst" "0" "00687" "COL4A5_000106" "g.107850014G>A" "" "{PMID:Nagel 2005:15954103}" "" "GGA-AGA" "" "Germline" "" "" "0" "" "" "g.108606784G>A" "" "pathogenic" "" "0000151062" "0" "90" "X" "107850024" "107850024" "subst" "0" "00687" "COL4A5_000107" "g.107850024G>A" "" "{PMID:Hertz 2001:11462238}" "" "2499G>A" "" "Germline" "" "" "0" "" "" "g.108606794G>A" "" "pathogenic" "" "0000151063" "0" "90" "X" "107850042" "107850042" "subst" "0" "00687" "COL4A5_000108" "g.107850042G>A" "" "{PMID:Kawai 1996:08648925}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108606812G>A" "" "pathogenic" "" "0000151064" "0" "90" "X" "107850059" "107850059" "subst" "0" "00687" "COL4A5_000109" "g.107850059G>A" "" "{PMID:Plant 1999:10094548}" "" "tGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108606829G>A" "" "pathogenic" "" "0000151065" "0" "90" "X" "107850113" "107850113" "subst" "0" "00687" "COL4A5_000110" "g.107850113G>A" "" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:07599631}" "" "tGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108606883G>A" "" "pathogenic" "" "0000151066" "0" "90" "X" "107858149" "107858149" "subst" "0" "00687" "COL4A5_000111" "g.107858149G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "tGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108614919G>A" "" "pathogenic" "" "0000151067" "0" "90" "X" "107858168" "107858168" "subst" "0" "00687" "COL4A5_000112" "g.107858168G>A" "" "{PMID:Plant 1999:10094548}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108614938G>A" "" "pathogenic" "" "0000151068" "0" "90" "X" "107858177" "107858177" "subst" "0" "00687" "COL4A5_000113" "g.107858177G>T" "" "{PMID:Knebelmann 1996:08940267}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108614947G>T" "" "pathogenic" "" "0000151069" "0" "90" "X" "107858209" "107858209" "subst" "0" "00687" "COL4A5_000114" "g.107858209G>A" "" "{PMID:Cruz-Robles 1999:10563487}" "" "2667G>A" "" "Germline" "" "" "0" "" "" "g.108614979G>A" "" "pathogenic" "" "0000151070" "0" "90" "X" "107858218" "107858218" "subst" "0" "00687" "COL4A5_000115" "g.107858218G>T" "" "{PMID:Tan 2010:2801648}" "" "aGGA-TGA" "" "Germline" "" "" "0" "" "" "g.108614988G>T" "" "pathogenic" "" "0000151071" "0" "90" "X" "107863533" "107863533" "subst" "0" "00687" "COL4A5_000116" "g.107863533G>A" "" "{PMID:Kawai 1996:08893151}" "" "tGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108620303G>A" "" "pathogenic" "" "0000151072" "0" "90" "X" "107863534" "107863534" "subst" "0" "00687" "COL4A5_000117" "g.107863534G>A" "" "{PMID:Plant 1999:10094548}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108620304G>A" "" "pathogenic" "" "0000151073" "0" "90" "X" "107863576" "107863576" "subst" "0" "00687" "COL4A5_000118" "g.107863576G>A" "" "{PMID:Renieri 1996:08651296}" "" "GGG-GAG" "" "Germline" "" "" "0" "" "" "g.108620346G>A" "" "pathogenic" "" "0000151074" "0" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "{PMID:Renieri 1996:08651296}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000151075" "0" "90" "X" "107863593" "107863593" "subst" "0" "00687" "COL4A5_000120" "g.107863593G>C" "" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:07599631}" "" "tGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108620363G>C" "" "pathogenic" "" "0000151076" "0" "90" "X" "107863603" "107863603" "subst" "0" "00687" "COL4A5_000121" "g.107863603G>A" "" "{PMID:Tazon-Vega 2007:17660027}" "" "2624G>A" "" "Germline" "" "" "0" "" "" "g.108620373G>A" "" "pathogenic" "" "0000151077" "0" "90" "X" "107863612" "107863612" "subst" "0" "00687" "COL4A5_000122" "g.107863612G>T" "" "{PMID:Plant 1999:10094548}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108620382G>T" "" "pathogenic" "" "0000151078" "0" "90" "X" "107863639" "107863639" "subst" "0" "00687" "COL4A5_000123" "g.107863639G>T" "" "Nagel (2005)" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108620409G>T" "" "pathogenic" "" "0000151079" "0" "90" "X" "107865047" "107865047" "subst" "0.000300288" "00687" "COL4A5_000124" "g.107865047A>G" "" "{PMID:Barker 2001:11223851}" "" "aATG-GTG" "" "Germline" "" "" "0" "" "" "g.108621817A>G" "" "pathogenic" "" "0000151080" "0" "90" "X" "107865060" "107865060" "subst" "0" "00687" "COL4A5_000125" "g.107865060G>T" "" "{PMID:Cheong 2000:10684360}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108621830G>T" "" "pathogenic" "" "0000151081" "0" "90" "X" "107865077" "107865077" "subst" "0" "00687" "COL4A5_000126" "g.107865077G>A" "" "{PMID:Tan 2010:2801648}" "" "GGA-AGA" "" "Germline" "" "" "0" "" "" "g.108621847G>A" "" "pathogenic" "" "0000151082" "0" "90" "X" "107865087" "107865087" "subst" "0" "00687" "COL4A5_000127" "g.107865087G>A" "" "{PMID:Cheong 2000:10684360}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108621857G>A" "" "pathogenic" "" "0000151083" "0" "90" "X" "107865101" "107865101" "subst" "0" "00687" "COL4A5_000128" "g.107865101A>G" "" "{PMID:Barker 2001:11223851}" "" "gAGT-GGT" "" "Germline" "" "" "0" "" "" "g.108621871A>G" "" "pathogenic" "" "0000151084" "0" "90" "X" "107865942" "107865942" "subst" "0" "00687" "COL4A5_000129" "g.107865942G>A" "" "{PMID:Nagel 2005:15954103}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108622712G>A" "" "pathogenic" "" "0000151085" "0" "90" "X" "107865959" "107865959" "subst" "0" "00687" "COL4A5_000130" "g.107865959G>T" "" "{PMID:Hertz 2001:11462238}" "" "3023G>T" "" "Germline" "" "" "0" "" "" "g.108622729G>T" "" "pathogenic" "" "0000151086" "0" "90" "X" "107865978" "107865978" "subst" "0" "00687" "COL4A5_000131" "g.107865978G>A" "" "{PMID:Inoue 1999:10561141}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108622748G>A" "" "pathogenic" "" "0000151087" "0" "90" "X" "107868935" "107868935" "subst" "0" "00687" "COL4A5_000133" "g.107868935G>T" "" "{PMID:Barker 2001:11223851}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108625705G>T" "" "pathogenic" "" "0000151088" "0" "90" "X" "107868962" "107868962" "subst" "0" "00687" "COL4A5_000134" "g.107868962G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108625732G>A" "" "pathogenic" "" "0000151089" "0" "90" "X" "107868962" "107868962" "subst" "0" "00687" "COL4A5_000135" "g.107868962G>T" "" "{PMID:Knebelmann 1996:08940267}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108625732G>T" "" "pathogenic" "" "0000151090" "0" "90" "X" "107868964" "107868964" "subst" "0" "00687" "COL4A5_000136" "g.107868964C>T" "" "{PMID:Knebelmann 1996:08940267}" "" "aCAG-TAG" "" "Germline" "" "" "0" "" "" "g.108625734C>T" "" "pathogenic" "" "0000151091" "0" "90" "X" "107869006" "107869006" "subst" "0" "00687" "COL4A5_000137" "g.107869006G>A" "" "{PMID:Martin 1998:09848783} {PMID:Pont-Kingdon 2009:19919694}" "" "cGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108625776G>A" "" "pathogenic" "" "0000151092" "0" "90" "X" "107869440" "107869440" "subst" "0" "00687" "COL4A5_000138" "g.107869440G>T" "" "{PMID:Knebelmann 1996:08940267}" "" "GGG-GTG" "" "Germline" "" "" "0" "" "" "g.108626210G>T" "" "pathogenic" "" "0000151093" "0" "90" "X" "107869448" "107869448" "subst" "0" "00687" "COL4A5_000139" "g.107869448G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "gGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108626218G>A" "" "pathogenic" "" "0000151094" "0" "90" "X" "107869467" "107869467" "subst" "0" "00687" "COL4A5_000140" "g.107869467G>A" "" "{PMID:Martin 2000:10862091}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108626237G>A" "" "pathogenic" "" "0000151095" "0" "90" "X" "107869502" "107869502" "subst" "0" "00687" "COL4A5_000141" "g.107869502G>T" "" "{PMID:Knebelmann 1996:08940267}" "" "aGGA-TGA" "" "Germline" "" "" "0" "" "" "g.108626272G>T" "" "pathogenic" "" "0000151096" "0" "90" "X" "107869511" "107869511" "subst" "0" "00687" "COL4A5_000142" "g.107869511G>T" "" "{PMID:Martin 1998:09848783}" "" "tGGA-TGA" "" "Germline" "" "" "0" "" "" "g.108626281G>T" "" "pathogenic" "" "0000151097" "0" "90" "X" "107869514" "107869514" "subst" "0" "00687" "COL4A5_000143" "g.107869514C>T" "" "{PMID:Plant 1999:10094548}" "" "aCAG-TAG" "" "Germline" "" "" "0" "" "" "g.108626284C>T" "" "pathogenic" "" "0000151098" "0" "90" "X" "107869521" "107869521" "subst" "0" "00687" "COL4A5_000144" "g.107869521G>T" "" "{PMID:Nagel 2005:15954103}" "" "GGC-GTC" "" "Germline" "" "" "0" "" "" "g.108626291G>T" "" "pathogenic" "" "0000151099" "0" "90" "X" "107869529" "107869529" "subst" "0" "00687" "COL4A5_000145" "g.107869529G>C" "" "{PMID:Knebelmann 1996:08940267}" "" "aGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108626299G>C" "" "pathogenic" "" "0000151100" "0" "90" "X" "107869529" "107869529" "subst" "0" "00687" "COL4A5_000146" "g.107869529G>A" "" "{PMID:Martin 1998:09848783}" "" "aGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108626299G>A" "" "pathogenic" "" "0000151101" "0" "90" "X" "107869530" "107869530" "subst" "0" "00687" "COL4A5_000147" "g.107869530G>C" "" "{PMID:Barker 2001:11223851}" "" "GGT-GCT" "" "Germline" "" "" "0" "" "" "g.108626300G>C" "" "pathogenic" "" "0000151102" "0" "90" "X" "107869545" "107869545" "subst" "0" "00687" "COL4A5_000148" "g.107869545C>G" "" "{PMID:Hertz 2001:11462238}" "" "3414C>G" "" "Germline" "" "" "0" "" "" "g.108626315C>G" "" "pathogenic" "" "0000151103" "0" "90" "X" "107898561" "107898561" "subst" "0" "00687" "COL4A5_000149" "g.107898561G>A" "" "{PMID:Nagel 2005:15954103}" "" "GGT-AGT" "" "Germline" "" "" "0" "" "" "g.108655331G>A" "" "pathogenic" "" "0000151104" "0" "90" "X" "107898571" "107898571" "subst" "0" "00687" "COL4A5_000150" "g.107898571G>A" "" "{PMID:Martin 2000:10862091}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108655341G>A" "" "pathogenic" "" "0000151105" "0" "90" "X" "107898603" "107898603" "subst" "0" "00687" "COL4A5_000151" "g.107898603A>T" "" "{PMID:Martin 1998:09848783}" "" "cAAA-TAA" "" "Germline" "" "" "0" "" "" "g.108655373A>T" "" "pathogenic" "" "0000151106" "0" "90" "X" "107898625" "107898625" "subst" "0" "00687" "COL4A5_000152" "g.107898625G>T" "" "{PMID:Kawai 1996:08648925}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108655395G>T" "" "pathogenic" "" "0000151107" "0" "90" "X" "107898633" "107898633" "subst" "0" "00687" "COL4A5_000153" "g.107898633G>A" "" "{PMID:Plant 1999:10094548}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108655403G>A" "" "pathogenic" "" "0000151108" "0" "90" "X" "107908790" "107908790" "subst" "0" "00687" "COL4A5_000154" "g.107908790G>A" "" "{PMID:Renieri 1994:07969679}" "" "cGGC-AGC" "" "Germline" "" "" "0" "" "" "g.108665560G>A" "" "pathogenic" "" "0000151109" "0" "90" "X" "107908791" "107908791" "subst" "0" "00687" "COL4A5_000155" "g.107908791G>A" "" "{PMID:Hertz 2001:11462238}" "" "3630G>A" "" "Germline" "" "" "0" "" "" "g.108665561G>A" "" "pathogenic" "" "0000151110" "0" "90" "X" "107834453" "107834453" "subst" "0.0434731" "00687" "COL4A5_000404" "g.107834453T>G" "" "{PMID:Inoue 1999:10561141}" "" "ATT-AGT" "" "Germline" "" "" "0" "" "" "g.108591223T>G" "" "pathogenic" "" "0000151111" "0" "90" "X" "107909752" "107909752" "subst" "0" "00687" "COL4A5_000157" "g.107909752G>A" "" "{PMID:Plant 1999:10094548}" "" "aGGG-AGG" "" "Germline" "" "" "0" "" "" "g.108666522G>A" "" "pathogenic" "" "0000151112" "0" "90" "X" "107909770" "107909770" "subst" "0" "00687" "COL4A5_000158" "g.107909770G>A" "" "{PMID:Martin 2000:10862091}" "" "aGGC-AGC" "" "Germline" "" "" "0" "" "" "g.108666540G>A" "" "pathogenic" "" "0000151113" "0" "90" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "{PMID:Inoue 1999:10561141}" "" "cGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "pathogenic" "" "0000151114" "0" "90" "X" "107909806" "107909806" "subst" "0" "00687" "COL4A5_000160" "g.107909806G>A" "" "{PMID:Nagel 2005:15954103}" "" "GGA-AGA" "" "Germline" "" "" "0" "" "" "g.108666576G>A" "" "pathogenic" "" "0000151115" "0" "90" "X" "107909809" "107909809" "subst" "0" "00687" "COL4A5_000161" "g.107909809C>T" "" "{PMID:Knebelmann 1996:08940267}" "" "aCAG-TAG" "" "Germline" "" "" "0" "" "" "g.108666579C>T" "" "pathogenic" "" "0000151116" "0" "90" "X" "107909815" "107909815" "subst" "0" "00687" "COL4A5_000162" "g.107909815G>C" "" "{PMID:Kawai 1996:08648925}" "" "gGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108666585G>C" "" "pathogenic" "" "0000151117" "0" "90" "X" "107910395" "107910395" "subst" "0" "00687" "COL4A5_000163" "g.107910395G>A" "" "{PMID:Martin 1998:09848783}" "" "tGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108667165G>A" "" "pathogenic" "" "0000151118" "0" "90" "X" "107911557" "107911557" "subst" "0" "00687" "COL4A5_000164" "g.107911557G>T" "" "{PMID:Knebelmann 1996:08940267}" "" "gGGT-TGT" "" "Germline" "" "" "0" "" "" "g.108668327G>T" "" "pathogenic" "" "0000151119" "0" "90" "X" "107911575" "107911575" "subst" "0" "00687" "COL4A5_000165" "g.107911575G>C" "" "{PMID:Plant 1999:10094548}" "" "tGGG-CGG" "" "Germline" "" "" "0" "" "" "g.108668345G>C" "" "pathogenic" "" "0000151120" "0" "30" "X" "107865996" "107865996" "subst" "0.0034612" "00687" "COL4A5_000132" "g.107865996G>T" "0.5" "{PMID:Knebelmann 1996:08940267}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108622766G>T" "" "likely benign" "" "0000151121" "0" "90" "X" "107911585" "107911585" "subst" "0" "00687" "COL4A5_000167" "g.107911585G>A" "" "{PMID:Nagel 2005:15954103}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108668355G>A" "" "pathogenic" "" "0000151122" "0" "90" "X" "107911603" "107911603" "subst" "0" "00687" "COL4A5_000168" "g.107911603G>A" "" "{PMID:Plant 1999:10094548}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108668373G>A" "" "pathogenic" "" "0000151123" "0" "90" "X" "107911612" "107911612" "subst" "0" "00687" "COL4A5_000169" "g.107911612G>T" "" "{PMID:Nagel 2005:15954103}" "" "GGC-GTC" "" "Germline" "" "" "0" "" "" "g.108668382G>T" "" "pathogenic" "" "0000151124" "0" "90" "X" "107911630" "107911630" "subst" "0" "00687" "COL4A5_000170" "g.107911630G>A" "" "{PMID:Cheong 2000:10684360}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108668400G>A" "" "pathogenic" "" "0000151125" "0" "90" "X" "107911665" "107911665" "subst" "0" "00687" "COL4A5_000171" "g.107911665G>T" "" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:07599631}" "" "tGGT-TGT" "" "Germline" "" "" "0" "" "" "g.108668435G>T" "" "pathogenic" "" "0000151126" "0" "90" "X" "107911675" "107911675" "subst" "0" "00687" "COL4A5_000172" "g.107911675G>A" "" "{PMID:Barker 2001:11223851}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108668445G>A" "" "pathogenic" "" "0000151127" "0" "90" "X" "107911698" "107911698" "subst" "0" "00687" "COL4A5_000173" "g.107911698G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "aGGC-AGC" "" "Germline" "" "" "0" "" "" "g.108668468G>A" "" "pathogenic" "" "0000151128" "0" "90" "X" "107911707" "107911707" "subst" "0" "00687" "COL4A5_000174" "g.107911707G>A" "" "{PMID:Hertz 2001:11462238}" "" "3965G>A" "" "Germline" "" "" "0" "" "" "g.108668477G>A" "" "pathogenic" "" "0000151129" "0" "90" "X" "107911726" "107911726" "subst" "0" "00687" "COL4A5_000175" "g.107911726G>A" "" "{PMID:Martin 1998:09848783}" "" "GGG-GAG" "" "Germline" "" "" "0" "" "" "g.108668496G>A" "" "pathogenic" "" "0000151130" "0" "90" "X" "107920747" "107920747" "subst" "0" "00687" "COL4A5_000176" "g.107920747G>A" "" "{PMID:Hertz 2001:11462238}" "" "4010G>A" "" "Germline" "" "" "0" "" "" "g.108677517G>A" "" "pathogenic" "" "0000151131" "0" "90" "X" "107920843" "107920843" "subst" "0" "00687" "COL4A5_000177" "g.107920843C>T" "" "{PMID:Cheong 2000:10684360}" "" "3904C>T (Q1302X)" "" "Germline" "" "" "0" "" "" "g.108677613C>T" "" "pathogenic" "" "0000151132" "0" "90" "X" "107923942" "107923942" "subst" "0" "00687" "COL4A5_000178" "g.107923942A>T" "" "{PMID:Minucci 2007:18350645}" "" "gAAA-TAA" "" "Germline" "" "" "0" "" "" "g.108680712A>T" "" "pathogenic" "" "0000151133" "0" "90" "X" "107923981" "107923981" "subst" "0" "00687" "COL4A5_000179" "g.107923981G>A" "" "{PMID:Plant 1999:10094548}" "" "aGGC-AGC" "" "Germline" "" "" "0" "" "" "g.108680751G>A" "" "pathogenic" "" "0000151134" "0" "90" "X" "107924123" "107924123" "subst" "0" "00687" "COL4A5_000180" "g.107924123G>T" "" "{PMID:Tan 2010:2801648}" "" "aGGA-TGA" "" "Germline" "" "" "0" "" "" "g.108680893G>T" "" "pathogenic" "" "0000151135" "0" "90" "X" "107924186" "107924186" "subst" "0" "00687" "COL4A5_000181" "g.107924186G>A" "" "{PMID:Plant 1999:10094548}" "" "aGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108680956G>A" "" "pathogenic" "" "0000151136" "0" "90" "X" "107925056" "107925056" "subst" "0" "00687" "COL4A5_000182" "g.107925056G>T" "" "{PMID:Renieri 1996:08651296}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108681826G>T" "" "pathogenic" "" "0000151137" "0" "90" "X" "107925067" "107925067" "subst" "0" "00687" "COL4A5_000183" "g.107925067C>T" "" "{PMID:Tan 2010:2801648}" "" "cCAG-TAG" "" "Germline" "" "" "0" "" "" "g.108681837C>T" "" "pathogenic" "" "0000151138" "0" "90" "X" "107925097" "107925097" "subst" "0" "00687" "COL4A5_000184" "g.107925097C>T" "" "{PMID:Inoue 1999:10561141}" "" "cCAA-TAA" "" "Germline" "" "" "0" "" "" "g.108681867C>T" "" "pathogenic" "" "0000151139" "0" "90" "X" "107929290" "107929290" "subst" "3.37209E-5" "00687" "COL4A5_000185" "g.107929290C>T" "" "{PMID:Renieri 1996:08651296}" "" "aCGC-TGC" "" "Germline" "" "" "0" "" "" "g.108686060C>T" "" "pathogenic" "" "0000151140" "0" "90" "X" "107929323" "107929323" "subst" "0" "00687" "COL4A5_000186" "g.107929323G>T" "" "{PMID:Renieri 1996:08651296}" "" "aGGG-TGG" "" "Germline" "" "" "0" "" "" "g.108686093G>T" "" "pathogenic" "" "0000151141" "0" "90" "X" "107929333" "107929333" "subst" "0" "00687" "COL4A5_000188" "g.107929333G>A" "" "{PMID:Zhang 2008:18373399}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108686103G>A" "" "pathogenic" "" "0000151142" "0" "90" "X" "107929341" "107929341" "subst" "0" "00687" "COL4A5_000189" "g.107929341G>T" "" "{PMID:Nagel 2005:15954103}" "" "aGGT-TGT" "" "Germline" "" "" "0" "" "" "g.108686111G>T" "" "pathogenic" "" "0000151143" "0" "90" "X" "107929342" "107929342" "subst" "0" "00687" "COL4A5_000190" "g.107929342G>T" "" "{PMID:Plant 1999:10094548}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108686112G>T" "" "pathogenic" "" "0000151144" "0" "90" "X" "107930739" "107930739" "subst" "0" "00687" "COL4A5_000191" "g.107930739G>A" "" "{PMID:Plant 1999:10094548}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108687509G>A" "" "pathogenic" "" "0000151145" "0" "90" "X" "107930765" "107930765" "subst" "0" "00687" "COL4A5_000192" "g.107930765G>A" "" "{PMID:Lemmink 1997:09195222}" "" "aGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108687535G>A" "" "pathogenic" "" "0000151146" "0" "90" "X" "107930871" "107930871" "subst" "0" "00687" "COL4A5_000193" "g.107930871G>C" "" "{PMID:Plant 1999:10094548}" "" "GGC-GCC" "" "Germline" "" "" "0" "" "" "g.108687641G>C" "" "pathogenic" "" "0000151147" "0" "90" "X" "107930877" "107930877" "subst" "0" "00687" "COL4A5_000194" "g.107930877C>T" "" "{PMID:Knebelmann 1996:08940267}" "" "" "" "Germline" "" "" "0" "" "" "g.108687647C>T" "" "pathogenic" "" "0000151148" "0" "90" "X" "107930907" "107930907" "subst" "0" "00687" "COL4A5_000195" "g.107930907C>A" "" "{PMID:Tverskaya 1996:08829632}" "" "GCC-GAC" "" "Germline" "" "" "0" "" "" "g.108687677C>A" "" "pathogenic" "" "0000151149" "0" "90" "X" "107935999" "107935999" "subst" "1.68379E-5" "00687" "COL4A5_000196" "g.107935999G>A" "" "{PMID:Cheong 2000:10684360}" "" "CGT-CAT" "" "Germline" "" "" "0" "" "" "g.108692769G>A" "" "pathogenic" "" "0000151150" "0" "90" "X" "107936016" "107936016" "subst" "0.00015701" "00687" "COL4A5_000197" "g.107936016C>A" "" "{PMID:Lemmink 1993:08406498}" "" "C>A (P1517T)" "" "Germline" "" "" "0" "" "" "g.108692786C>A" "" "pathogenic" "" "0000151151" "0" "90" "X" "107936030" "107936030" "subst" "0" "00687" "COL4A5_000198" "g.107936030C>A" "" "{PMID:Hertz 2001:11462238}" "" "4765C>A" "" "Germline" "" "" "0" "" "" "g.108692800C>A" "" "pathogenic" "" "0000151152" "0" "90" "X" "107936081" "107936081" "subst" "0" "00687" "COL4A5_000209" "g.107936081G>C" "" "{PMID:Lemmink 1993:08406498}" "" "Trp1538Ser" "" "Germline" "" "" "0" "" "" "g.108692851G>C" "" "pathogenic" "" "0000151153" "0" "90" "X" "107936081" "107936081" "subst" "0" "00687" "COL4A5_000200" "g.107936081G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "" "" "Germline" "" "" "0" "" "" "g.108692851G>A" "" "pathogenic" "" "0000151154" "0" "90" "X" "107936154" "107936154" "subst" "0" "00687" "COL4A5_000201" "g.107936154C>T" "" "{PMID:Lemmink 1997:09195222}" "" "tCGA-TGA" "" "Germline" "" "" "0" "" "" "g.108692924C>T" "" "pathogenic" "" "0000151155" "0" "90" "X" "107936155" "107936155" "subst" "0" "00687" "COL4A5_000202" "g.107936155G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "4890G>A" "" "Germline" "" "" "0" "" "" "g.108692925G>A" "" "pathogenic" "" "0000151156" "0" "90" "X" "107938039" "107938039" "subst" "0" "00687" "COL4A5_000203" "g.107938039G>C" "" "Zhou (1991) Genomics 9, 10" "" "TGT-TCT" "" "Germline" "" "" "0" "" "" "g.108694809G>C" "" "pathogenic" "" "0000151157" "0" "90" "X" "107938047" "107938047" "subst" "0" "00687" "COL4A5_000204" "g.107938047T>C" "" "{PMID:Knebelmann 1996:08940267}" "" "4901T>C (C1567R)" "" "Germline" "" "" "0" "" "" "g.108694817T>C" "" "pathogenic" "" "0000151158" "0" "90" "X" "107936155" "107936155" "subst" "0" "00687" "COL4A5_000202" "g.107936155G>A" "" "{PMID:Hertz 2001:11462238}" "" "4890G>A (R1563Q)" "" "Germline" "" "" "0" "" "" "g.108692925G>A" "" "pathogenic" "" "0000151159" "0" "90" "X" "107938135" "107938135" "subst" "0" "00687" "COL4A5_000206" "g.107938135G>A" "" "{PMID:Renieri 1996:08651296}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108694905G>A" "" "pathogenic" "" "0000151160" "0" "90" "X" "107938139" "107938139" "subst" "0" "00687" "COL4A5_000207" "g.107938139T>A" "" "{PMID:Martin 1998:09848783}" "" "TATt-TAA" "" "Germline" "" "" "0" "" "" "g.108694909T>A" "" "pathogenic" "" "0000151161" "0" "90" "X" "107938151" "107938151" "subst" "0" "00687" "COL4A5_000208" "g.107938151G>A" "" "{PMID:Plant 1999:10094548}" "" "ATGgt-ATCgt" "" "Germline" "" "" "0" "" "" "g.108694921G>A" "" "pathogenic" "" "0000151162" "0" "90" "X" "107938151" "107938151" "subst" "0" "00687" "COL4A5_000208" "g.107938151G>A" "" "{PMID:Plant 1999:10094548}" "" "ATGgt-ATAgt" "" "Germline" "" "" "0" "" "" "g.108694921G>A" "" "pathogenic" "" "0000151163" "0" "90" "X" "107938639" "107938639" "subst" "0" "00687" "COL4A5_000210" "g.107938639T>G" "" "{PMID:Barker 1996:11223851}, {OMIM303630:0014}" "" "CTG-CGG" "" "Germline" "" "" "0" "" "" "g.108695409T>G" "" "pathogenic" "" "0000151164" "0" "90" "X" "107938669" "107938669" "subst" "0" "00687" "COL4A5_000211" "g.107938669G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "5178G>A" "" "Germline" "" "" "0" "" "" "g.108695439G>A" "" "pathogenic" "" "0000151165" "0" "90" "X" "107939579" "107939579" "subst" "0" "00687" "COL4A5_000212" "g.107939579C>T" "" "{PMID:Plant 1999:10094548}" "" "cCGA-TGA" "" "Germline" "" "" "0" "" "" "g.108696349C>T" "" "pathogenic" "" "0000151166" "0" "90" "X" "107939580" "107939580" "subst" "2.23958E-5" "00687" "COL4A5_000213" "g.107939580G>A" "" "{PMID:Barker 2001:11223851}" "" "CGA-CCA" "" "Germline" "" "" "0" "" "" "g.108696350G>A" "" "pathogenic" "" "0000151167" "0" "90" "X" "107939580" "107939580" "subst" "2.23958E-5" "00687" "COL4A5_000213" "g.107939580G>A" "" "{PMID:Barker 1997:11223851}, {OMIM303630:0015}" "" "CGA-CAA" "" "Germline" "" "" "0" "" "" "g.108696350G>A" "" "pathogenic" "" "0000151168" "0" "90" "X" "107939584" "107939584" "subst" "0" "00687" "COL4A5_000215" "g.107939584T>G" "" "{PMID:Inoue 1999:10561141}" "" "TGTc-TGG" "" "Germline" "" "" "0" "" "" "g.108696354T>G" "" "pathogenic" "" "0000151169" "0" "90" "X" "107939585" "107939585" "subst" "0" "00687" "COL4A5_000216" "g.107939585C>T" "" "{PMID:Nakazato 1994:07853788}" "" "5035C>T" "" "Germline" "" "" "0" "" "" "g.108696355C>T" "" "pathogenic" "" "0000151170" "21" "90" "X" "107813924" "107813924" "subst" "0" "00687" "COL4A5_000217" "g.107813924G>A" "" "{PMID:King 2002:12436246}" "" "IVS6+1873G>A" "variant not in 192 control chromosomes" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000151171" "0" "90" "X" "107827758" "107827761" "del" "0" "00687" "COL4A5_000218" "g.107827758_107827761del" "" "{PMID:Heiskari 1996:08738805}" "" "IVS18+1delGTAA" "" "Germline" "" "" "0" "" "" "g.108584528_108584531del" "" "pathogenic" "" "0000151172" "0" "90" "X" "107827758" "107827761" "del" "0" "00687" "COL4A5_000219" "g.107827758_107827761del" "" "{PMID:Knebelmann 1996:08940267}" "" "1234+3delAAGT" "" "Germline" "" "" "0" "" "" "g.108584528_108584531del" "" "pathogenic" "" "0000151173" "0" "90" "X" "107840299" "107840299" "del" "0" "00687" "COL4A5_000220" "g.107840299del" "" "{PMID:Knebelmann 1996:08940267}" "" "1791+1delG" "" "Germline" "" "" "0" "" "" "g.108597069del" "" "pathogenic" "" "0000151174" "0" "90" "X" "107850124" "107850124" "del" "0" "00687" "COL4A5_000221" "g.107850124del" "" "{PMID:Renieri 1996:08651296}" "" "IVS29+2" "" "Germline" "" "" "0" "" "" "g.108606894del" "" "pathogenic" "" "0000151175" "0" "90" "X" "107911735" "107911735" "del" "0" "00687" "COL4A5_000222" "g.107911735del" "" "{PMID:Knebelmann 1996:08940267}" "" "3992/3992+1delG" "" "Germline" "" "" "0" "" "" "g.108668505del" "" "pathogenic" "" "0000151176" "0" "90" "X" "107938034" "107938065" "del" "0" "00687" "COL4A5_000223" "g.107938034_107938065del" "" "{PMID:Kawai 1996:08648925}" "" "ex49 4891-3/deI32" "" "Germline" "" "" "0" "" "" "g.108694804_108694835del" "" "pathogenic" "" "0000151177" "0" "90" "X" "107823762" "107823768" "del" "0" "00687" "COL4A5_000224" "g.107823762_107823768del" "" "{PMID:Kawai 1996:08648925}" "" "781-1_786delGGGACTT" "" "Germline" "" "" "0" "" "" "g.108580532_108580538del" "" "pathogenic" "" "0000151178" "0" "90" "X" "107816886" "107816886" "dup" "0" "00687" "COL4A5_000225" "g.107816886dup" "" "{PMID:Knebelmann 1996:08940267}" "" "750+3insT" "" "Germline" "" "" "0" "" "" "g.108573656dup" "" "pathogenic" "" "0000151179" "0" "90" "X" "107802293" "107802293" "subst" "0" "00687" "COL4A5_000226" "g.107802293G>A" "" "{PMID:Plant 1999:10094548}" "" "IVS2-1" "" "Germline" "" "" "0" "" "" "g.108559063G>A" "" "pathogenic" "" "0000151180" "0" "90" "X" "107802384" "107802384" "subst" "0" "00687" "COL4A5_000227" "g.107802384G>A" "" "{PMID:Barker 2001:11223851}" "" "IVS3+1" "" "Germline" "" "" "0" "" "" "g.108559154G>A" "" "pathogenic" "" "0000151181" "0" "90" "X" "107807111" "107807111" "subst" "0" "00687" "COL4A5_000228" "g.107807111G>T" "" "{PMID:Barker 2001:11223851}" "" "IVS3-1" "" "Germline" "" "" "0" "" "" "g.108563881G>T" "" "pathogenic" "" "0000151182" "0" "90" "X" "107807088" "107807088" "subst" "0" "00687" "COL4A5_000229" "g.107807088C>A" "" "{PMID:Wang 2002:12478350}" "" "IVS3-24" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108563858C>A" "" "pathogenic" "" "0000151183" "0" "90" "X" "107811858" "107811858" "subst" "0" "00687" "COL4A5_000230" "g.107811858G>T" "" "{PMID:Plant 1999:10094548}" "" "IVS4-1" "" "Germline" "" "" "0" "" "" "g.108568628G>T" "" "pathogenic" "" "0000151184" "0" "90" "X" "107811988" "107811988" "subst" "0" "00687" "COL4A5_000231" "g.107811988G>A" "" "{PMID:Plant 1999:10094548}" "" "IVS5-1" "" "Germline" "" "" "0" "" "" "g.108568758G>A" "" "pathogenic" "" "0000151185" "0" "90" "X" "107814642" "107814642" "subst" "0" "00687" "COL4A5_000232" "g.107814642G>C" "" "{PMID:Hertz 2001:11462238}" "" "587-1G>C" "" "Germline" "" "" "0" "" "" "g.108571412G>C" "" "pathogenic" "" "0000151186" "0" "90" "X" "107816802" "107816802" "subst" "0" "00687" "COL4A5_000233" "g.107816802A>G" "" "{PMID:Hertz 2001:11462238}" "" "668-2A>G" "" "Germline" "" "" "0" "" "" "g.108573572A>G" "" "pathogenic" "" "0000151187" "0" "90" "X" "107819139" "107819139" "subst" "0" "00687" "COL4A5_000234" "g.107819139G>A" "" "{PMID:Hertz 2001:11462238}" "" "749-1G>A" "" "Germline" "" "" "0" "" "" "g.108575909G>A" "" "pathogenic" "" "0000151188" "0" "90" "X" "107816885" "107816885" "subst" "0" "00687" "COL4A5_000235" "g.107816885G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "750+1G>A" "" "Germline" "" "" "0" "" "" "g.108573655G>A" "" "pathogenic" "" "0000151189" "0" "90" "X" "107819203" "107819203" "subst" "0" "00687" "COL4A5_000236" "g.107819203G>A" "" "{PMID:Hertz 2001:11462238}" "" "811+1G>A" "" "Germline" "" "" "0" "" "" "g.108575973G>A" "" "pathogenic" "" "0000151190" "0" "90" "X" "107821180" "107821180" "subst" "0" "00687" "COL4A5_000237" "g.107821180A>T" "" "{PMID:Knebelmann 1996:08940267}" "" "812-2T>A" "" "Germline" "" "" "0" "" "" "g.108577950A>T" "" "pathogenic" "" "0000151191" "0" "90" "X" "107821305" "107821305" "subst" "0" "00687" "COL4A5_000238" "g.107821305C>A" "" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:07599631}" "" "IVS11-3" "" "Germline" "" "" "0" "" "" "g.108578075C>A" "" "pathogenic" "" "0000151192" "0" "90" "X" "107821350" "107821350" "subst" "0" "00687" "COL4A5_000239" "g.107821350G>A" "" "{PMID:Heiskari 1996:08738805}" "" "IVS12+1" "" "Germline" "" "" "0" "" "" "g.108578120G>A" "" "pathogenic" "" "0000151193" "0" "90" "X" "107821518" "107821518" "subst" "0" "00687" "COL4A5_000240" "g.107821518C>G" "" "{PMID:Knebelmann 1996:08940267}" "" "890-3G>C" "" "Germline" "" "" "0" "" "" "g.108578288C>G" "" "pathogenic" "" "0000151194" "0" "90" "X" "107823817" "107823817" "subst" "0" "00687" "COL4A5_000241" "g.107823817G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "1036+1G>A" "" "Germline" "" "" "0" "" "" "g.108580587G>A" "" "pathogenic" "" "0000151195" "0" "90" "X" "107823969" "107823969" "subst" "0" "00687" "COL4A5_000242" "g.107823969G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "1093+1G>A" "" "Germline" "" "" "0" "" "" "g.108580739G>A" "" "pathogenic" "" "0000151196" "0" "90" "X" "107824212" "107824212" "subst" "0" "00687" "COL4A5_000243" "g.107824212G>C" "" "{PMID:Heiskari 1996:08738805}" "" "IVS15-1" "" "Germline" "" "" "0" "" "" "g.108580982G>C" "" "pathogenic" "" "0000151197" "0" "90" "X" "107824211" "107824211" "subst" "0" "00687" "COL4A5_000244" "g.107824211A>G" "" "{PMID:Heiskari 1996:08738805}" "" "IVS15-2" "" "Germline" "" "" "0" "" "" "g.108580981A>G" "" "pathogenic" "" "0000151198" "0" "90" "X" "107829978" "107829978" "subst" "0" "00687" "COL4A5_000245" "g.107829978G>A" "" "{PMID:Renieri 1996:08651296}" "" "IVS19+1" "" "Germline" "" "" "0" "" "" "g.108586748G>A" "" "pathogenic" "" "0000151199" "0" "90" "X" "107829979" "107829979" "subst" "0" "00687" "COL4A5_000246" "g.107829979T>G" "" "{PMID:Renieri 1996:08651296}" "" "IVS19+2" "" "Germline" "" "" "0" "" "" "g.108586749T>G" "" "pathogenic" "" "0000151200" "0" "90" "X" "107834789" "107834789" "subst" "0" "00687" "COL4A5_000247" "g.107834789A>G" "" "{PMID:Lemmink 1997:09195222}" "" "IVS20-2" "" "Germline" "" "" "0" "" "" "g.108591559A>G" "" "pathogenic" "" "0000151201" "0" "90" "X" "107834875" "107834875" "subst" "0" "00687" "COL4A5_000248" "g.107834875G>A" "" "{PMID:Martin 1998:09848783}" "" "IVS21+1" "" "Germline" "" "" "0" "" "" "g.108591645G>A" "" "pathogenic" "" "0000151202" "0" "90" "X" "107840299" "107840299" "subst" "0" "00687" "COL4A5_000249" "g.107840299G>A" "" "{PMID:Plant 1999:10094548}" "" "IVS23+1" "" "Germline" "" "" "0" "" "" "g.108597069G>A" "" "pathogenic" "" "0000151203" "0" "90" "X" "107840799" "107840799" "subst" "0" "00687" "COL4A5_000250" "g.107840799G>T" "" "{PMID:Renieri 1996:08651296}" "" "IVS24+1" "" "Germline" "" "" "0" "" "" "g.108597569G>T" "" "pathogenic" "" "0000151204" "0" "90" "X" "107844716" "107844716" "subst" "0" "00687" "COL4A5_000347" "g.107844716G>T" "" "{PMID:Martin 1998:09848783}" "" "IVS26+1" "" "Germline" "" "" "0" "" "" "g.108601486G>T" "" "pathogenic" "" "0000151205" "0" "90" "X" "107846191" "107846191" "subst" "0" "00687" "COL4A5_000252" "g.107846191C>G" "" "{PMID:Martin 1998:09848783}" "" "IVS27-3" "" "Germline" "" "" "0" "" "" "g.108602961C>G" "" "pathogenic" "" "0000151206" "0" "90" "X" "107846292" "107846292" "subst" "0" "00687" "COL4A5_000253" "g.107846292G>A" "" "Cheong (2000) Pediatr Nephrol 14, 117" "" "IVS28+1" "" "Germline" "" "" "0" "" "" "g.108603062G>A" "" "pathogenic" "" "0000151207" "0" "90" "X" "107849971" "107849971" "subst" "0" "00687" "COL4A5_000254" "g.107849971G>A" "" "{PMID:Martin 1998:09848783}" "" "IVS28-1" "" "Germline" "" "" "0" "" "" "g.108606741G>A" "" "pathogenic" "" "0000151208" "0" "90" "X" "107852872" "107852872" "subst" "0" "00687" "COL4A5_000255" "g.107852872A>G" "" "{PMID:King 2002:12436246}" "" "IVS29+2733A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151209" "0" "90" "X" "107865023" "107865023" "subst" "0" "00687" "COL4A5_000256" "g.107865023T>G" "" "King (2002) Hum Genet 111, 548" "" "IVS31-10" "" "Germline" "" "" "0" "" "" "g.108621793T>G" "" "pathogenic" "" "0000151210" "0" "90" "X" "107866056" "107866056" "subst" "0" "00687" "COL4A5_000257" "g.107866056G>T" "" "{PMID:Barker 2001:11223851}" "" "IVS33+1" "" "Germline" "" "" "0" "" "" "g.108622826G>T" "" "pathogenic" "" "0000151211" "0" "90" "X" "107866056" "107866056" "subst" "0" "00687" "COL4A5_000258" "g.107866056G>C" "" "{PMID:Knebelmann 1996:08940267}" "" "3119+1G>C" "" "Germline" "" "" "0" "" "" "g.108622826G>C" "" "pathogenic" "" "0000151212" "0" "90" "X" "107867465" "107867465" "subst" "0" "00687" "COL4A5_000259" "g.107867465G>T" "" "{PMID:Knebelmann 1996:08940267}" "" "3120-1G>T" "" "Germline" "" "" "0" "" "" "g.108624235G>T" "" "pathogenic" "" "0000151213" "0" "90" "X" "107867565" "107867565" "subst" "0" "00687" "COL4A5_000260" "g.107867565G>T" "" "{PMID:Barker 2001:11223851}" "" "IVS34+1" "" "Germline" "" "" "0" "" "" "g.108624335G>T" "" "pathogenic" "" "0000151214" "0" "90" "X" "107868934" "107868934" "subst" "0" "00687" "COL4A5_000261" "g.107868934G>A" "" "{PMID:Barker 2001:11223851}" "" "IVS34-1" "" "Germline" "" "" "0" "" "" "g.108625704G>A" "" "pathogenic" "" "0000151215" "21" "90" "X" "107869438" "107869438" "subst" "0" "00687" "COL4A5_000262" "g.107869438A>G" "" "{PMID:Hertz 2001:11462238} {PMID:Martin 1998:09848783}" "" "3309-2A>G" "de novo, grandpaternal" "De novo" "" "" "0" "" "" "g.108626208A>G" "" "pathogenic" "" "0000151216" "0" "90" "X" "107908726" "107908726" "subst" "0.000232633" "00687" "COL4A5_000263" "g.107908726C>A" "" "{PMID:Martin 2000:10862091}" "" "IVS37-11" "" "Germline" "" "" "0" "" "" "g.108665496C>A" "" "pathogenic" "" "0000151217" "0" "90" "X" "107908818" "107908818" "subst" "0" "00687" "COL4A5_000264" "g.107908818G>C" "" "Netzer (1993) Kidney Int 43, 486" "" "IVS38+1" "" "Germline" "" "" "0" "" "" "g.108665588G>C" "" "pathogenic" "" "0000151218" "0" "90" "X" "107908818" "107908818" "subst" "0" "00687" "COL4A5_000265" "g.107908818G>T" "" "{PMID:Hertz 2001:11462238} {PMID:Martin 1998:09848783}" "" "3656+1G>T" "" "Germline" "" "" "0" "" "" "g.108665588G>T" "" "pathogenic" "" "0000151219" "0" "90" "X" "107909717" "107909717" "subst" "0" "00687" "COL4A5_000266" "g.107909717A>G" "" "{PMID:Martin 2000:10862091}" "" "IVS38-9" "" "Germline" "" "" "0" "" "" "g.108666487A>G" "" "pathogenic" "" "0000151220" "0" "90" "X" "107910362" "107910362" "subst" "0" "00687" "COL4A5_000267" "g.107910362G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "3756-1G>A" "" "Germline" "" "" "0" "" "" "g.108667132G>A" "" "pathogenic" "" "0000151221" "0" "90" "X" "107910360" "107910360" "subst" "0" "00687" "COL4A5_000268" "g.107910360C>G" "" "{PMID:Martin 1998:09848783}" "" "IVS39-3" "" "Germline" "" "" "0" "" "" "g.108667130C>G" "" "pathogenic" "" "0000151222" "0" "90" "X" "107910354" "107910354" "subst" "0" "00687" "COL4A5_000269" "g.107910354C>G" "" "{PMID:Martin 1998:09848783}" "" "IVS39-9" "" "Germline" "" "" "0" "" "" "g.108667124C>G" "" "pathogenic" "" "0000151223" "0" "90" "X" "107911548" "107911548" "subst" "0" "00687" "COL4A5_000270" "g.107911548G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "3807-1G>A" "" "Germline" "" "" "0" "" "" "g.108668318G>A" "" "pathogenic" "" "0000151224" "0" "90" "X" "107911547" "107911547" "subst" "0" "00687" "COL4A5_000271" "g.107911547A>T" "" "{PMID:Knebelmann 1996:08940267}" "" "3807-2A>T" "" "Germline" "" "" "0" "" "" "g.108668317A>T" "" "pathogenic" "" "0000151225" "21" "90" "X" "107920729" "107920729" "subst" "0" "00687" "COL4A5_000272" "g.107920729G>A" "" "{PMID:Lemmink 1993:08406498}" "" "IVS41-1G>A" "" "Germline" "" "" "0" "" "" "g.108677499G>A" "" "pathogenic" "" "0000151226" "0" "90" "X" "107920864" "107920864" "subst" "0" "00687" "COL4A5_000273" "g.107920864G>C" "" "{PMID:Cruz-Robles 1999:10563487}" "" "4126+1G>C" "" "Germline" "" "" "0" "" "" "g.108677634G>C" "" "pathogenic" "" "0000151227" "0" "90" "X" "107923908" "107923908" "subst" "0" "00687" "COL4A5_000274" "g.107923908G>A" "" "{PMID:Plant 1999:10094548}" "" "IVS42-1" "" "Germline" "" "" "0" "" "" "g.108680678G>A" "" "pathogenic" "" "0000151228" "0" "90" "X" "107924113" "107924113" "subst" "0" "00687" "COL4A5_000275" "g.107924113A>G" "" "{PMID:Renieri 1996:08651296}" "" "IVS45-2" "" "Germline" "" "" "0" "" "" "g.108680883A>G" "" "pathogenic" "" "0000151229" "0" "90" "X" "107924187" "107924187" "subst" "0" "00687" "COL4A5_000276" "g.107924187G>A" "" "{PMID:Plant 1999:10094548}" "" "IVS46+1" "" "Germline" "" "" "0" "" "" "g.108680957G>A" "" "pathogenic" "" "0000151230" "0" "90" "X" "107930711" "107930711" "subst" "0" "00687" "COL4A5_000277" "g.107930711G>C" "" "{PMID:Barker 2001:11223851}" "" "IVS46-1" "" "Germline" "" "" "0" "" "" "g.108687481G>C" "" "pathogenic" "" "0000151231" "0" "90" "X" "107930925" "107930925" "subst" "0" "00687" "COL4A5_000278" "g.107930925G>C" "" "{PMID:Kawai 1996:08648925}" "" "IVS49+1" "" "Germline" "" "" "0" "" "" "g.108687695G>C" "" "pathogenic" "" "0000151232" "0" "90" "X" "107938152" "107938152" "subst" "0" "00687" "COL4A5_000279" "g.107938152G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "5005+1G>A" "" "Germline" "" "" "0" "" "" "g.108694922G>A" "" "pathogenic" "" "0000151233" "0" "90" "X" "107939525" "107939525" "subst" "0" "00687" "COL4A5_000280" "g.107939525A>G" "" "Nakazato (1995) Am J Kidney Dis 26, 732" "" "IVS50-2" "" "Germline" "" "" "0" "" "" "g.108696295A>G" "" "pathogenic" "" "0000151234" "0" "90" "X" "107829907" "107829915" "del" "0" "00687" "COL4A5_000281" "g.107829907_107829915del" "" "{PMID:Heiskari 1996:08738805}" "" "1093delGGGTTGCCT" "" "Germline" "" "" "0" "" "" "g.108586677_108586685del" "" "pathogenic" "" "0000151235" "0" "90" "X" "107834822" "107834830" "del" "0" "00687" "COL4A5_000283" "g.107834822_107834830del" "" "{PMID:Renieri 1996:08651296}" "" "1366delCCAGGCCCC" "" "Germline" "" "" "0" "" "" "g.108591592_108591600del" "" "pathogenic" "" "0000151236" "0" "90" "X" "107834822" "107834830" "del" "0" "00687" "COL4A5_000283" "g.107834822_107834830del" "" "{PMID:Hertz 2001:11462238}" "" "1573-1581del9" "" "Germline" "" "" "0" "" "" "g.108591592_108591600del" "" "pathogenic" "" "0000151237" "0" "90" "X" "107838798" "107838833" "del" "0" "00687" "COL4A5_000284" "g.107838798_107838833del" "" "{PMID:Renieri 1996:08651296}" "" "1685del36 delQPGLPGLPGPPG" "" "Germline" "" "" "0" "" "" "g.108595568_108595603del" "" "pathogenic" "" "0000151238" "0" "90" "X" "107858156" "107858173" "del" "0" "00687" "COL4A5_000285" "g.107858156_107858173del" "" "{PMID:Hertz 2001:11462238} {PMID:Martin 1998:09848783}" "" "2606-2623del18" "" "Germline" "" "" "0" "" "" "g.108614926_108614943del" "" "pathogenic" "" "0000151239" "0" "90" "X" "107858220" "107858228" "del" "0" "00687" "COL4A5_000286" "g.107858220_107858228del" "" "{PMID:Plant 1999:10094548}" "" "2464delGGACCACCA" "" "Germline" "" "" "0" "" "" "g.108614990_108614998del" "" "pathogenic" "" "0000151240" "0" "90" "X" "107863529" "107863552" "del" "0" "00687" "COL4A5_000287" "g.107863529_107863552del" "" "{PMID:Wang 2002:12478350}, {PMID:Wang 2005:15780079}" "" "2752_2775del" "" "Germline" "" "" "0" "" "" "g.108620299_108620322del" "" "pathogenic" "" "0000151241" "0" "90" "X" "107863568" "107863603" "del" "0" "00687" "COL4A5_000288" "g.107863568_107863603del" "" "{PMID:Martin 2000:10862091}" "" "" "" "Germline" "" "" "0" "" "" "g.108620338_108620373del" "" "pathogenic" "" "0000151242" "0" "90" "X" "107865963" "107865965" "del" "0" "00687" "COL4A5_000289" "g.107865963_107865965del" "" "{PMID:Renieri 1996:08651296}" "" "2823_2825del" "" "Germline" "" "" "0" "" "" "g.108622733_108622735del" "" "pathogenic" "" "0000151243" "0" "90" "X" "107867513" "107867530" "del" "0" "00687" "COL4A5_000290" "g.107867513_107867530del" "" "{PMID:Plant 1999:10094548}" "" "2959_2976del" "" "Germline" "" "" "0" "" "" "g.108624283_108624300del" "" "pathogenic" "" "0000151244" "20" "90" "X" "107911601" "107911672" "del" "0" "00687" "COL4A5_000291" "g.107911601_107911672del" "" "{PMID:Hertz 2001:11462238}" "" "3859-3930del72" "de novo, maternal" "De novo" "" "" "0" "" "" "g.108668371_108668442del" "" "pathogenic" "" "0000151245" "0" "90" "X" "107930740" "107930775" "dup" "0" "00687" "COL4A5_000292" "g.107930740_107930775dup" "" "{PMID:Renieri 1996:08651296} Hamalainen 1996" "" "4517dupl36" "" "Germline" "" "" "0" "" "" "g.108687510_108687545dup" "" "pathogenic" "" "0000151246" "0" "90" "X" "107807132" "107807132" "del" "0" "00687" "COL4A5_000293" "g.107807132del" "" "{PMID:Plant 1999:10094548}" "" "250delG" "" "Germline" "" "" "0" "" "" "g.108563902del" "" "pathogenic" "" "0000151247" "0" "90" "X" "107811875" "107811875" "del" "0" "00687" "COL4A5_000294" "g.107811875del" "" "{PMID:Barker 2001:11223851}" "" "" "" "Germline" "" "" "0" "" "" "g.108568645del" "" "pathogenic" "" "0000151248" "0" "90" "X" "107815042" "107815042" "del" "0" "00687" "COL4A5_000295" "g.107815042del" "" "{PMID:Inoue 1999:10561141}" "" "" "" "Germline" "" "" "0" "" "" "g.108571812del" "" "pathogenic" "" "0000151249" "0" "90" "X" "107815048" "107815048" "del" "0" "00687" "COL4A5_000296" "g.107815048del" "" "{PMID:Martin 1998:09848783}" "" "648delC" "" "Germline" "" "" "0" "" "" "g.108571818del" "" "pathogenic" "" "0000151250" "0" "90" "X" "107816871" "107816871" "del" "0" "00687" "COL4A5_000297" "g.107816871del" "" "{PMID:Knebelmann 1996:08940267}" "" "" "" "Germline" "" "" "0" "" "" "g.108573641del" "" "pathogenic" "" "0000151251" "0" "90" "X" "107821183" "107821201" "del" "0" "00687" "COL4A5_000298" "g.107821183_107821201del" "" "{PMID:Inoue 1999:10561141}" "" "812del19" "" "Germline" "" "" "0" "" "" "g.108577953_108577971del" "" "pathogenic" "" "0000151252" "0" "90" "X" "107821207" "107821207" "del" "0" "00687" "COL4A5_000299" "g.107821207del" "" "{PMID:Renieri 1996:08651296}" "" "634delC" "" "Germline" "" "" "0" "" "" "g.108577977del" "" "pathogenic" "" "0000151253" "0" "90" "X" "107821522" "107821522" "del" "0" "00687" "COL4A5_000300" "g.107821522del" "" "{PMID:Knebelmann 1996:08940267}" "" "" "" "Germline" "" "" "0" "" "" "g.108578292del" "" "pathogenic" "" "0000151254" "0" "90" "X" "107821594" "107821595" "del" "0" "00687" "COL4A5_000301" "g.107821594_107821595del" "" "{PMID:Heiskari 1996:08738805}" "" "761delAG" "" "Germline" "" "" "0" "" "" "g.108578364_108578365del" "" "pathogenic" "" "0000151255" "0" "90" "X" "107823962" "107823962" "del" "0" "00687" "COL4A5_000302" "g.107823962del" "" "{PMID:Heiskari 1996:08738805}" "" "" "" "Germline" "" "" "0" "" "" "g.108580732del" "" "pathogenic" "" "0000151256" "0" "90" "X" "107826149" "107826149" "del" "0" "00687" "COL4A5_000303" "g.107826149del" "" "{PMID:Wang 2002:12478350}" "" "971delC" "" "Germline" "" "" "0" "" "" "g.108582919del" "" "pathogenic" "" "0000151257" "0" "90" "X" "107827736" "107827736" "del" "0" "00687" "COL4A5_000304" "g.107827736del" "" "{PMID:Cheong 2000:10684360}" "" "1011delC" "" "Germline" "" "" "0" "" "" "g.108584506del" "" "pathogenic" "" "0000151258" "0" "90" "X" "107829886" "107829886" "del" "0" "00687" "COL4A5_000305" "g.107829886del" "" "{PMID:Knebelmann 1996:08940267}" "" "" "" "Germline" "" "" "0" "" "" "g.108586656del" "" "pathogenic" "" "0000151259" "0" "90" "X" "107834387" "107834387" "del" "0" "00687" "COL4A5_000306" "g.107834387del" "" "{PMID:Knebelmann 1996:08940267}" "" "" "" "Germline" "" "" "0" "" "" "g.108591157del" "" "pathogenic" "" "0000151260" "0" "90" "X" "107834437" "107834438" "del" "0" "00687" "COL4A5_000307" "g.107834437_107834438del" "" "{PMID:Wang 2002:12478350}" "" "1315delCC" "" "Germline" "" "" "0" "" "" "g.108591207_108591208del" "" "pathogenic" "" "0000151261" "0" "90" "X" "107834801" "107834802" "del" "0" "00687" "COL4A5_000308" "g.107834801_107834802del" "" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:07599631}" "" "1348delAT/1350delAT" "" "Germline" "" "" "0" "" "" "g.108591571_108591572del" "" "pathogenic" "" "0000151262" "0" "90" "X" "107834827" "107834827" "del" "0" "00687" "COL4A5_000309" "g.107834827del" "" "{PMID:Knebelmann 1996:08940267}" "" "1371-1376delC" "" "Germline" "" "" "0" "" "" "g.108591597del" "" "pathogenic" "" "0000151263" "0" "90" "X" "107840253" "107840254" "del" "0" "00687" "COL4A5_000310" "g.107840253_107840254del" "" "{PMID:Plant 1999:10094548}" "" "1542_43delAG" "" "Germline" "" "" "0" "" "" "g.108597023_108597024del" "" "pathogenic" "" "0000151264" "0" "90" "X" "107840278" "107840278" "del" "0" "00687" "COL4A5_000311" "g.107840278del" "" "{PMID:Renieri 1996:08651296}" "" "1768delA" "" "Germline" "" "" "0" "" "" "g.108597048del" "" "pathogenic" "" "0000151265" "0" "90" "X" "107840292" "107840307" "del" "0" "00687" "COL4A5_000312" "g.107840292_107840307del" "" "{PMID:Plant 1999:10094548}" "" "1581delATTACCAGTAAGTTTT" "" "Germline" "" "" "0" "" "" "g.108597062_108597077del" "" "pathogenic" "" "0000151266" "0" "90" "X" "107844634" "107844634" "del" "0" "00687" "COL4A5_000313" "g.107844634del" "" "{PMID:Knebelmann 1996:08940267}" "" "1957-1960delG" "" "Germline" "" "" "0" "" "" "g.108601404del" "" "pathogenic" "" "0000151267" "0" "90" "X" "107844643" "107844643" "del" "0" "00687" "COL4A5_000314" "g.107844643del" "" "Wang (2002) Pediatr Nephrol 17, 1013" "" "" "" "Germline" "" "" "0" "" "" "g.108601413del" "" "pathogenic" "" "0000151268" "0" "90" "X" "107844692" "107844692" "del" "0" "00687" "COL4A5_000315" "g.107844692del" "" "{PMID:Renieri 1996:08651296}" "" "" "" "Germline" "" "" "0" "" "" "g.108601462del" "" "pathogenic" "" "0000151269" "0" "90" "X" "107846194" "107846194" "del" "0" "00687" "COL4A5_000316" "g.107846194del" "" "{PMID:Martin 1998:09848783}" "" "2349delG" "" "Germline" "" "" "0" "" "" "g.108602964del" "" "pathogenic" "" "0000151270" "0" "90" "X" "107850075" "107850075" "del" "0" "00687" "COL4A5_000317" "g.107850075del" "" "{PMID:Martin 1998:09848783}" "" "2549delC" "" "Germline" "" "" "0" "" "" "g.108606845del" "" "pathogenic" "" "0000151271" "0" "90" "X" "107863604" "107863604" "del" "0" "00687" "COL4A5_000318" "g.107863604del" "" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:07599631}" "" "" "" "Germline" "" "" "0" "" "" "g.108620374del" "" "pathogenic" "" "0000151272" "0" "90" "X" "107863622" "107863622" "del" "0" "00687" "COL4A5_000319" "g.107863622del" "" "{PMID:Barker 2001:11223851}" "" "" "" "Germline" "" "" "0" "" "" "g.108620392del" "" "pathogenic" "" "0000151273" "0" "90" "X" "107867476" "107867477" "del" "0" "00687" "COL4A5_000320" "g.107867476_107867477del" "" "{PMID:Plant 1999:10094548}" "" "" "" "Germline" "" "" "0" "" "" "g.108624246_108624247del" "" "pathogenic" "" "0000151274" "0" "90" "X" "107867491" "107867491" "del" "0" "00687" "COL4A5_000321" "g.107867491del" "" "Peissel (1994) Hum Mutat 3, 386" "" "2940_2943delA" "" "Germline" "" "" "0" "" "" "g.108624261del" "" "pathogenic" "" "0000151275" "0" "90" "X" "107867513" "107867513" "del" "0" "00687" "COL4A5_000322" "g.107867513del" "" "{PMID:Lemmink 1997:09195222}" "" "" "" "Germline" "" "" "0" "" "" "g.108624283del" "" "pathogenic" "" "0000151276" "0" "90" "X" "107868975" "107868975" "del" "0" "00687" "COL4A5_000323" "g.107868975del" "" "{PMID:Knebelmann 1996:08940267}" "" "" "" "Germline" "" "" "0" "" "" "g.108625745del" "" "pathogenic" "" "0000151277" "0" "90" "X" "107898645" "107898645" "del" "0" "00687" "COL4A5_000324" "g.107898645del" "" "{PMID:Renieri 1996:08651296}" "" "" "" "Germline" "" "" "0" "" "" "g.108655415del" "" "pathogenic" "" "0000151278" "0" "90" "X" "107909745" "107909745" "del" "0" "00687" "COL4A5_000325" "g.107909745del" "" "{PMID:Hertz 2001:11462238}" "" "3676delG" "" "Germline" "" "" "0" "" "" "g.108666515del" "" "pathogenic" "" "0000151279" "0" "90" "X" "107909780" "107909780" "del" "0" "00687" "COL4A5_000326" "g.107909780del" "" "Renieri (1994) Hum Mol Genet 3, 201" "" "3508-3509delG" "" "Germline" "" "" "0" "" "" "g.108666550del" "" "pathogenic" "" "0000151280" "0" "90" "X" "107909798" "107909798" "del" "0" "00687" "COL4A5_000327" "g.107909798del" "" "{PMID:Martin 1998:09848783}" "" "3729delG" "" "Germline" "" "" "0" "" "" "g.108666568del" "" "pathogenic" "" "0000151281" "0" "90" "X" "107909814" "107909820" "del" "0" "00687" "COL4A5_000328" "g.107909814_107909820del" "" "{PMID:Renieri 1993:08651296}" "" "3543delGGGTGAA" "" "Germline" "" "" "0" "" "" "g.108666584_108666590del" "" "pathogenic" "" "0000151282" "0" "90" "X" "107911558" "107911558" "del" "0" "00687" "COL4A5_000329" "g.107911558del" "" "{PMID:Lemmink 1994:08004101}" "" "3613delG" "" "Germline" "" "" "0" "" "" "g.108668328del" "" "pathogenic" "" "0000151283" "0" "90" "X" "107911562" "107911565" "del" "0" "00687" "COL4A5_000330" "g.107911562_107911565del" "" "{PMID:Renieri 1993:08651296}" "" "3618_3621delTGGA" "" "Germline" "" "" "0" "" "" "g.108668332_108668335del" "" "pathogenic" "" "0000151284" "0" "90" "X" "107911591" "107911591" "del" "0" "00687" "COL4A5_000331" "g.107911591del" "" "{PMID:Knebelmann 1996:08940267}" "" "3646-3647delC" "" "Germline" "" "" "0" "" "" "g.108668361del" "" "pathogenic" "" "0000151285" "0" "90" "X" "107911636" "107911636" "del" "0" "00687" "COL4A5_000332" "g.107911636del" "" "{PMID:Knebelmann 1996:08940267}" "" "3691-3692delC" "" "Germline" "" "" "0" "" "" "g.108668406del" "" "pathogenic" "" "0000151286" "0" "90" "X" "107920754" "107920754" "del" "0" "00687" "COL4A5_000334" "g.107920754del" "" "Renieri (1994) Hum Mol Genet 3, 201" "" "3832delC" "" "Germline" "" "" "0" "" "" "g.108677524del" "" "pathogenic" "" "0000151287" "0" "90" "X" "107920796" "107920802" "del" "0" "00687" "COL4A5_000335" "g.107920796_107920802del" "" "Guo (1993) Kidney Int 44, 1316" "" "3857delATCCAGG" "" "Germline" "" "" "0" "" "" "g.108677566_108677572del" "" "pathogenic" "" "0000151288" "0" "90" "X" "107920859" "107920859" "del" "0" "00687" "COL4A5_000336" "g.107920859del" "" "{PMID:Knebelmann 1996:08940267}" "" "4122delT" "" "Germline" "" "" "0" "" "" "g.108677629del" "" "pathogenic" "" "0000151289" "0" "90" "X" "107923976" "107923976" "del" "0" "00687" "COL4A5_000337" "g.107923976del" "" "{PMID:Renieri 1996:08651296}" "" "4009-4010delT" "" "Germline" "" "" "0" "" "" "g.108680746del" "" "pathogenic" "" "0000151290" "0" "90" "X" "107924991" "107924991" "del" "0" "00687" "COL4A5_000338" "g.107924991del" "" "{PMID:Knebelmann 1996:08940267}" "" "4273delT" "" "Germline" "" "" "0" "" "" "g.108681761del" "" "pathogenic" "" "0000151291" "0" "90" "X" "107925022" "107925023" "del" "0" "00687" "COL4A5_000339" "g.107925022_107925023del" "" "{PMID:Plant 1999:10094548}" "" "" "" "Germline" "" "" "0" "" "" "g.108681792_108681793del" "" "pathogenic" "" "0000151292" "0" "90" "X" "107930850" "107930851" "del" "0" "00687" "COL4A5_000340" "g.107930850_107930851del" "" "{PMID:Hertz 2001:11462238} Hertz 1995" "" "4637-4638delGA" "" "Germline" "" "" "0" "" "" "g.108687620_108687621del" "" "pathogenic" "" "0000151293" "0" "90" "X" "107930852" "107930852" "del" "0" "00687" "COL4A5_000341" "g.107930852del" "" "{PMID:Plant 1999:10094548}" "" "4455delA" "" "Germline" "" "" "0" "" "" "g.108687622del" "" "pathogenic" "" "0000151294" "0" "90" "X" "107930905" "107930906" "del" "0" "00687" "COL4A5_000342" "g.107930905_107930906del" "" "{PMID:Inoue 1999:10561141}" "" "4509delAG" "" "Germline" "" "" "0" "" "" "g.108687675_108687676del" "" "pathogenic" "" "0000151295" "0" "90" "X" "107938098" "107938104" "del" "0" "00687" "COL4A5_000343" "g.107938098_107938104del" "" "{PMID:Plant 1999:10094548}" "" "4768delCCCCATT" "" "Germline" "" "" "0" "" "" "g.108694868_108694874del" "" "pathogenic" "" "0000151296" "0" "90" "X" "107938525" "107938525" "del" "0" "00687" "COL4A5_000344" "g.107938525del" "" "{PMID:Renieri 1993:08651296}" "" "4849-4850delG" "" "Germline" "" "" "0" "" "" "g.108695295del" "" "pathogenic" "" "0000151297" "0" "90" "X" "107938661" "107938661" "del" "0" "00687" "COL4A5_000345" "g.107938661del" "" "{PMID:Inoue 1999:10561141}" "" "" "" "Germline" "" "" "0" "" "" "g.108695431del" "" "pathogenic" "" "0000151298" "0" "90" "X" "107939544" "107939551" "del" "0" "00687" "COL4A5_000346" "g.107939544_107939551del" "" "Boye (1993) Hum Mol Genet 2, 595" "" "4990delGAAACGCT" "" "Germline" "" "" "0" "" "" "g.108696314_108696321del" "" "pathogenic" "" "0000151299" "0" "90" "X" "107939544" "107939551" "del" "0" "00687" "COL4A5_000346" "g.107939544_107939551del" "" "{PMID:Plant 1999:10094548}" "" "4994delCGCTGAAA" "" "Germline" "" "" "0" "" "" "g.108696314_108696321del" "" "pathogenic" "" "0000151300" "0" "90" "X" "107939584" "107939584" "del" "0" "00687" "COL4A5_000348" "g.107939584del" "" "{PMID:Martin 2000:10862091}" "" "" "" "Germline" "" "" "0" "" "" "g.108696354del" "" "pathogenic" "" "0000151301" "0" "90" "X" "107802304" "107802305" "delins" "0" "00687" "COL4A5_000349" "g.107802304_107802305delinsAGGT" "" "{PMID:Heiskari 1996:08738805}" "" "G353+A,T358+T" "" "Germline" "" "" "0" "" "" "g.108559074_108559075delinsAGGT" "" "pathogenic" "" "0000151302" "0" "90" "X" "107819141" "107819141" "dup" "0" "00687" "COL4A5_000350" "g.107819141dup" "" "{PMID:Hertz 2001:11462238}" "" "750insC" "" "Germline" "" "" "0" "" "" "g.108575911dup" "" "pathogenic" "" "0000151303" "0" "90" "X" "107826122" "107826122" "dup" "0" "00687" "COL4A5_000351" "g.107826122dup" "" "{PMID:Heiskari 1996:08738805} {PMID:Martin 1998:09848783}" "" "945-946insT" "" "Germline" "" "" "0" "" "" "g.108582892dup" "" "pathogenic" "" "0000151304" "0" "90" "X" "107829874" "107829874" "dup" "0" "00687" "COL4A5_000352" "g.107829874dup" "" "{PMID:Barker 2001:11223851}" "" "1062_1063insT" "" "Germline" "" "" "0" "" "" "g.108586644dup" "" "pathogenic" "" "0000151305" "0" "90" "X" "107834335" "107834335" "dup" "0" "00687" "COL4A5_000353" "g.107834335dup" "" "{PMID:Knebelmann 1996:08940267}" "" "1416insA" "" "Germline" "" "" "0" "" "" "g.108591105dup" "" "pathogenic" "" "0000151306" "0" "90" "X" "107834336" "107834339" "dup" "0" "00687" "COL4A5_000354" "g.107834336_107834339dup" "" "{PMID:Renieri 1996:08651296}" "" "1217_1218insGGGG" "" "Germline" "" "" "0" "" "" "g.108591106_108591109dup" "" "pathogenic" "" "0000151307" "0" "90" "X" "107834402" "107834402" "dup" "0" "00687" "COL4A5_000355" "g.107834402dup" "" "{PMID:Renieri 1996:08651296}" "" "1280_1281insA" "" "Germline" "" "" "0" "" "" "g.108591172dup" "" "pathogenic" "" "0000151308" "0" "90" "X" "107850044" "107850045" "ins" "0" "00687" "COL4A5_000356" "g.107850044_107850045insA" "" "{PMID:Hertz 2001:11462238}" "" "2520insA" "" "Germline" "" "" "0" "" "" "g.108606814_108606815insA" "" "pathogenic" "" "0000151309" "0" "90" "X" "107865940" "107865940" "dup" "0" "00687" "COL4A5_000357" "g.107865940dup" "" "{PMID:Hertz 2001:11462238}" "" "3004insT" "" "Germline" "" "" "0" "" "" "g.108622710dup" "" "pathogenic" "" "0000151310" "0" "90" "X" "107898648" "107898651" "dup" "0" "00687" "COL4A5_000358" "g.107898648_107898651dup" "" "{PMID:Renieri 1996:08651296}" "" "3337_3338insCCTG" "" "Germline" "" "" "0" "" "" "g.108655418_108655421dup" "" "pathogenic" "" "0000151311" "0" "90" "X" "107911653" "107911654" "dup" "0" "00687" "COL4A5_000359" "g.107911653_107911654dup" "" "{PMID:Plant 1999:10094548}" "" "3710_3711insCC" "" "Germline" "" "" "0" "" "" "g.108668423_108668424dup" "" "pathogenic" "" "0000151312" "0" "90" "X" "107911698" "107911701" "dup" "0" "00687" "COL4A5_000360" "g.107911698_107911701dup" "" "{PMID:Kawai 1996:08648925}" "" "3959insGGCA" "" "Germline" "" "" "0" "" "" "g.108668468_108668471dup" "" "pathogenic" "" "0000151313" "0" "90" "X" "107925081" "107925082" "ins" "0" "00687" "COL4A5_000361" "g.107925081_107925082insTCCT" "" "{PMID:Renieri 1996:08651296} Massella 1994" "" "4363insTCCT" "" "Germline" "" "" "0" "" "" "g.108681851_108681852insTCCT" "" "pathogenic" "" "0000151314" "0" "90" "X" "107925116" "107925116" "dup" "0" "00687" "COL4A5_000362" "g.107925116dup" "" "{PMID:Ermisch 2000:10955921}" "" "4214_4215insC" "" "Germline" "" "" "0" "" "" "g.108681886dup" "" "pathogenic" "" "0000151315" "0" "90" "X" "107930740" "107930740" "dup" "0" "00687" "COL4A5_000363" "g.107930740dup" "" "{PMID:Renieri 1996:08651296}" "" "4344insT" "" "Germline" "" "" "0" "" "" "g.108687510dup" "" "pathogenic" "" "0000151316" "0" "90" "X" "107936020" "107936020" "dup" "0" "00687" "COL4A5_000364" "g.107936020dup" "" "{PMID:Nakazato 1993:08264140}" "" "4564insT" "" "Germline" "" "" "0" "" "" "g.108692790dup" "" "pathogenic" "" "0000151317" "0" "90" "X" "107938138" "107938138" "dup" "0" "00687" "COL4A5_000365" "g.107938138dup" "" "{PMID:Nakazato 1994:07853788}" "" "4993_4994insA" "" "Germline" "" "" "0" "" "" "g.108694908dup" "" "pathogenic" "" "0000151318" "0" "90" "X" "107938144" "107938153" "dup" "0" "00687" "COL4A5_000366" "g.107938144_107938153dup" "" "{PMID:Lemmink 1993:08406498}" "" "4821+1insTTCATGATGG" "" "Germline" "" "" "0" "" "" "g.108694914_108694923dup" "" "pathogenic" "" "0000151320" "0" "90" "X" "107858179" "107858186" "delins" "0" "00687" "COL4A5_000368" "g.107858179_107858186delinsAACCTGGACCAATGGGACCAATGGGAACAC" "" "{PMID:Martin 1998:09848783}" "" "2605del18" "" "Germline" "" "" "0" "" "" "g.108614949_108614956delinsAACCTGGACCAATGGGACCAATGGGAACAC" "" "pathogenic" "" "0000151321" "0" "90" "X" "107858197" "107858199" "delins" "0" "00687" "COL4A5_000369" "g.107858197_107858199delinsT" "" "{PMID:Hertz 2001:11462238}" "" "2654-2656delATA/2653insT" "" "Germline" "" "" "0" "" "" "g.108614967_108614969delinsT" "" "pathogenic" "" "0000151322" "1" "90" "X" "107865102" "107865114" "delins" "0" "00687" "COL4A5_000370" "g.107865102_107865114delinsTA" "" "{PMID:Plant 1999:10094548}" "" "2948insAT, del 2949-2961, 2969+19ins2962-2969+19" "" "Germline" "" "" "0" "" "" "g.108621872_108621884delinsTA" "" "pathogenic" "" "0000151323" "1" "90" "X" "107924166" "107924171" "del" "0" "00687" "COL4A5_000372" "g.107924166_107924171del" "" "{PMID:Renieri 1996:08651296}" "" "delPG1350-1351/G1348E" "" "Germline" "" "" "0" "" "" "g.108680936_108680941del" "" "pathogenic" "" "0000151324" "0" "90" "X" "107929315" "107929324" "del" "0" "00687" "COL4A5_000000" "g.107929315_107929324delins107929325_107929342" "" "{PMID:Hertz 2001:11462238}" "" "4455-4464del/4465-4482dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151325" "1" "90" "X" "107280000" "108790000" "" "0" "00687" "COL4A5_000000" "g.(107230000_107280000)_(108790000_108880000)del" "" "{PMID:Thielen 2003:14517961}" "" "COL4A5/A6 deletion" "1.4Mb deletion containing COL4A5, COL4A6 and surrounding genes" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151326" "1" "90" "X" "107553977" "107683437" "" "0" "00687" "COL4A5_000374" "g.(107464605_107553977)_(107683437_107782975)del" "" "{PMID:Plant 1999:10094548}" "" "COL4A6 E3 to COL4A5 E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151327" "1" "90" "X" "107681171" "107683437" "" "0" "00687" "COL4A5_000375" "g.(107554059_107681171)_(107683437_107782975)del" "" "{PMID:Thielen 2003:14517961}" "" "COL4A6 IVS2 to COL4A5 IVS1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151328" "1" "90" "X" "107681171" "107683437" "" "0" "00687" "COL4A5_000375" "g.(107554059_107681171)_(107683437_107782975)del" "" "{PMID:Thielen 2003:14517961}" "" "COL4A6 IVS2 to COL4A5 IVS1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151329" "1" "90" "X" "107681171" "107683437" "" "0" "00687" "COL4A5_000375" "g.(107554059_107681171)_(107683437_107782975)del" "" "{PMID:Mothes 2002:11773466}" "" "COL4A6 E2 to COL4A5 E1del" "120kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151330" "0" "90" "X" "107802382" "107823969" "" "0" "00687" "COL4A5_000000" "g.(107683437_107802382)_(107823969_107826113)del" "" "{PMID:Smeets 1992:01635357}" "" "5’UTR-E16_E21-3\'UTR double del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151331" "0" "90" "X" "107683355" "107812052" "del" "0" "00687" "COL4A5_000379" "g.(?_107683355)_(107812052_107814642)del" "" "{PMID:Vetrie 1992:01330889}" "" "E1_E6del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151332" "0" "90" "X" "107683355" "107858255" "del" "0" "00687" "COL4A5_000380" "g.(?_107683355)_(107858255_107863488)del" "" "{PMID:Plant 1999:10094548}" "" "E1_E30del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151333" "0" "90" "X" "107683355" "107939609" "del" "0" "00687" "COL4A5_000381" "g.(?_107683355)_(107939609_?)del" "" "{PMID:Barker 2001:11223851}" "" "E1_E51del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151334" "0" "90" "X" "107782975" "107815068" "del" "0" "00687" "COL4A5_000382" "g.(107683437_107782975)_(107815068_107816803)del" "" "{PMID:Martin 1998:09848783}" "" "E2_E8del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151335" "0" "90" "X" "107782975" "107939609" "del" "0" "00687" "COL4A5_000383" "g.(107683437_107782975)_(107939609_?)del" "" "{PMID:Plant 1999:10094548}" "" "E2_E51del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151336" "0" "90" "X" "107802293" "107898688" "del" "0" "00687" "COL4A5_000384" "g.(107783036_107802293)_(107898688_107908736)del" "" "{PMID:Barker 2001:11223851}" "" "E3_E37del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151337" "0" "90" "X" "107807111" "107930925" "del" "0" "00687" "COL4A5_000385" "g.(107802384_107807111)_(107930925_107935977)del" "" "{PMID:Ding 1994:07993995}" "" "E4_E47del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151338" "0" "90" "X" "107807111" "107939609" "del" "0" "00687" "COL4A5_000386" "g.(107802384_107807111)_(107939609_?)del" "" "{PMID:Ding 1994:07993995}" "" "?E4_51del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151339" "0" "90" "X" "107840758" "107842198" "del" "0" "00687" "COL4A5_000387" "g.107840758_107842198del" "" "{PMID:Plant 1999:10094548}" "" "E24(1941)_IVS25+98del" "1.4kb deletion" "Germline" "" "" "0" "" "" "g.108597528_108598968del" "" "pathogenic" "" "0000151340" "0" "90" "X" "107844622" "107850123" "del" "0" "00687" "COL4A5_000388" "g.(107842101_107844622)_(107850123_107858140)del" "" "{PMID:Plant 1999:10094548}" "" "E26_E29del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151341" "0" "90" "X" "107849971" "107850123" "" "0" "00687" "COL4A5_000389" "g.(107846292_107849971)_(107850123_107858140)del" "" "{PMID:Inoue 1999:10561141}" "" "E29_E30del RNA, E29 DNA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151342" "0" "90" "X" "107849971" "107869580" "del" "0" "00687" "COL4A5_000390" "g.(107846292_107849971)_(107869580_107898560)del" "" "{PMID:Inoue 1999:10561141}" "" "E29_E36del RNA, E30-E36 DNA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151343" "0" "90" "X" "107898558" "107898558" "subst" "0" "00687" "COL4A5_000391" "g.107898558A>C" "" "{PMID:Inoue 1999:10561141}" "" "3449-2A>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108655328A>C" "" "pathogenic" "" "0000151344" "0" "90" "X" "107898560" "107925119" "del" "0" "00687" "COL4A5_000392" "g.(107869580_107898560)_(107925119_107929260)del" "" "{PMID:Plant 1999:10094548}" "" "E37_E45del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151345" "0" "90" "X" "107908736" "107917984" "del" "0" "00687" "COL4A5_000393" "g.(107898688_107908736)_(107917984_107920729)del" "" "{PMID:Plant 1999:10094548}" "" "E38_E41del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151346" "0" "90" "X" "107911548" "107939609" "del" "0" "00687" "COL4A5_000394" "g.(107910414_107911548)_(107939609_?)del" "" "{PMID:Plant 1999:10094548}" "" "E41_E51del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151347" "0" "90" "X" "107923908" "107924187" "del" "0" "00687" "COL4A5_000395" "g.(107920864_107923908)_(107924187_107924989)del" "" "{PMID:Barker 2001:11223851}" "" "E43_E44del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151348" "0" "90" "X" "107923908" "107930925" "del" "0" "00687" "COL4A5_000396" "g.(107920864_107923908)_(107930925_107935977)del" "" "{PMID:Barker 1990:2349482}" "" "E43_E47del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151349" "0" "90" "X" "107938036" "107939609" "del" "0" "00687" "COL4A5_000397" "g.(107936156_107938036)_(107939609_?)del" "" "Cheong (2000) Pediatr Nephrol 14, 117, Saito 1994" "" "E51_E53del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151350" "0" "90" "X" "107908736" "107939609" "del" "0" "00687" "COL4A5_000398" "g.(107898688_107908736)_(107939609_?)dup" "" "{PMID:Plant 1999:10094548}" "" "E38_51dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151351" "0" "90" "X" "107930925" "107935977" "ins" "0" "00687" "COL4A5_000399" "g.107930925_107935977insN[10000]" "" "{PMID:Plant 1999:10094548}" "" "IVS47ins10-15kb and del 40kb 3’ of COL4A5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151352" "0" "10" "X" "107814660" "107814660" "subst" "0" "00687" "COL4A5_000400" "g.107814660A>T" "" "{PMID:Knebelmann 1996:08940267}" "" "" "" "Germline" "" "" "0" "" "" "g.108571430A>T" "" "benign" "" "0000151353" "0" "90" "X" "107826148" "107826148" "subst" "0" "00687" "COL4A5_000401" "g.107826148C>T" "" "{PMID:Plant 1999:10094548}" "" "CCC-CCT" "" "Germline" "" "" "0" "" "" "g.108582918C>T" "" "pathogenic" "" "0000151354" "0" "10" "X" "107829907" "107829907" "subst" "0.0442794" "00687" "COL4A5_000402" "g.107829907G>C" "" "{PMID:Plant 1999:10094548}" "" "GGG-GGA" "" "Germline" "" "" "0" "" "" "g.108586677G>C" "" "benign" "" "0000151355" "0" "90" "X" "107834411" "107834411" "subst" "0.00478917" "00687" "COL4A5_000403" "g.107834411C>A" "" "{PMID:Plant 1999:10094548}" "" "GCT-GAT" "" "Germline" "" "" "0" "" "" "g.108591181C>A" "" "pathogenic" "" "0000151356" "0" "90" "X" "107834453" "107834453" "subst" "0.0434731" "00687" "COL4A5_000404" "g.107834453T>G" "" "{PMID:Plant 1999:10094548}" "" "ATT-AGT" "" "Germline" "" "" "0" "" "" "g.108591223T>G" "" "pathogenic" "" "0000151357" "0" "10" "X" "107841985" "107841985" "subst" "0" "00687" "COL4A5_000405" "g.107841985A>G" "" "{PMID:Cheong 2000:10684360}" "" "CCA-CCG" "" "Germline" "" "" "0" "" "" "g.108598755A>G" "" "benign" "" "0000151358" "0" "90" "X" "107842007" "107842007" "subst" "0" "00687" "COL4A5_000406" "g.107842007C>T" "" "{PMID:Knebelmann 1996:08940267}" "" "gCCT-TCT" "" "Germline" "" "" "0" "" "" "g.108598777C>T" "" "pathogenic" "" "0000151359" "0" "90" "X" "107844666" "107844666" "subst" "0.00798301" "00687" "COL4A5_000002" "g.107844666G>T" "" "{PMID:Plant 1999:10094548}" "" "AAG-AAT" "" "Germline" "" "" "0" "" "" "g.108601436G>T" "" "pathogenic" "" "0000151360" "0" "10" "X" "107845128" "107845128" "subst" "0.0431482" "00687" "COL4A5_000408" "g.107845128T>C" "" "{PMID:Barker 2001:11223851}" "" "CTT-CTC" "" "Germline" "" "" "0" "" "" "g.108601898T>C" "" "benign" "" "0000151361" "0" "10" "X" "107850076" "107850076" "subst" "0.0438653" "00687" "COL4A5_000409" "g.107850076G>A" "" "{PMID:Barker 2001:11223851}" "" "CCG-CCA" "" "Germline" "" "" "0" "" "" "g.108606846G>A" "" "benign" "" "0000151362" "0" "30" "X" "107898569" "107898569" "subst" "0" "00687" "COL4A5_000410" "g.107898569T>A" "" "{PMID:Inoue 1999:10561141}" "" "P1085P" "" "Germline" "" "" "0" "" "" "g.108655339T>A" "" "likely benign" "" "0000151363" "0" "10" "X" "107909784" "107909784" "subst" "0.0508792" "00687" "COL4A5_000411" "g.107909784A>G" "" "{PMID:Plant 1999:10094548}" "" "CAA-CAG" "" "Germline" "" "" "0" "" "" "g.108666554A>G" "" "benign" "" "0000151364" "0" "30" "X" "107910391" "107910391" "subst" "1.1194E-5" "00687" "COL4A5_000412" "g.107910391C>T" "" "{PMID:Inoue 1999:10561141}" "" "CCC-CCT" "" "Germline" "" "" "0" "" "" "g.108667161C>T" "" "likely benign" "" "0000151365" "0" "10" "X" "107929301" "107929301" "subst" "0" "00687" "COL4A5_000413" "g.107929301C>T" "" "{PMID:Kawai 1996:08648925}" "" "CTC-CTT" "" "Germline" "" "" "0" "" "" "g.108686071C>T" "" "benign" "" "0000151366" "0" "10" "X" "107929337" "107929337" "subst" "0.0355565" "00687" "COL4A5_000414" "g.107929337C>T" "" "{PMID:Plant 1999:10094548}" "" "GAC-GAT" "" "Germline" "" "" "0" "" "" "g.108686107C>T" "" "benign" "" "0000151367" "0" "90" "X" "107929344" "107929344" "subst" "0" "00687" "COL4A5_000415" "g.107929344C>A" "" "{PMID:Knebelmann 1996:08940267}" "" "4483C>A (L1428M)" "" "Germline" "" "" "0" "" "" "g.108686114C>A" "" "pathogenic" "" "0000151368" "0" "90" "X" "107936142" "107936142" "subst" "1.12146E-5" "00687" "COL4A5_000416" "g.107936142C>G" "" "{PMID:Plant 1999:10094548}" "" "gCCA-GCA" "" "Germline" "" "" "0" "" "" "g.108692912C>G" "" "pathogenic" "" "0000151369" "0" "10" "X" "107819223" "107819223" "subst" "0.299215" "00687" "COL4A5_000417" "g.107819223T>C" "" "{PMID:Barker 2001:11223851}" "" "IVS10+21T>C" "" "Germline" "" "" "0" "" "" "g.108575993T>C" "" "benign" "" "0000151370" "0" "10" "X" "107829830" "107829830" "del" "0" "00687" "COL4A5_000418" "g.107829830del" "" "{PMID:Barker 2001:11223851}" "" "IVS18-15delT" "" "Germline" "" "" "0" "" "" "g.108586600del" "" "benign" "" "0000151371" "0" "10" "X" "107863456" "107863456" "subst" "0.000285654" "00687" "COL4A5_000419" "g.107863456A>G" "" "{PMID:Barker 2001:11223851}" "" "IVS30-33A>G" "" "Germline" "" "" "0" "" "" "g.108620226A>G" "" "benign" "" "0000151372" "0" "10" "X" "107865895" "107865895" "subst" "0.16126" "00687" "COL4A5_000420" "g.107865895A>G" "" "{PMID:Barker 2001:11223851}" "" "IVS32-11A>G" "" "Germline" "" "" "0" "" "" "g.108622665A>G" "" "benign" "" "0000151375" "0" "90" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "{PMID:Renieri 1996:08651296}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "pathogenic" "" "0000151376" "0" "90" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "{PMID:Barker 2001:11223851}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "pathogenic" "" "0000151377" "0" "90" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "{PMID:Knebelmann 1992:1376965}, {OMIM303630:0007}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "pathogenic" "" "0000151378" "0" "90" "X" "107829929" "107829929" "subst" "0" "00687" "COL4A5_000043" "g.107829929C>T" "" "{PMID:Heiskari 1996:08738805} {PMID:Martin 2000:10862091}" "" "gCGA-TGA" "" "Germline" "" "" "0" "" "" "g.108586699C>T" "" "pathogenic" "" "0000151379" "0" "90" "X" "107829929" "107829929" "subst" "0" "00687" "COL4A5_000043" "g.107829929C>T" "" "{PMID:Knebelmann 1996:08940267}" "" "gCGA-TGA" "" "Germline" "" "" "0" "" "" "g.108586699C>T" "" "pathogenic" "" "0000151381" "0" "90" "X" "107829929" "107829929" "subst" "0" "00687" "COL4A5_000043" "g.107829929C>T" "" "{PMID:Tan 2010:2801648}" "" "gCGA-TGA" "" "Germline" "" "" "0" "" "" "g.108586699C>T" "" "pathogenic" "" "0000151383" "0" "90" "X" "107834339" "107834339" "subst" "0" "00687" "COL4A5_000048" "g.107834339G>T" "" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:07599631}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108591109G>T" "" "pathogenic" "" "0000151385" "21" "90" "X" "107834341" "107834341" "subst" "0" "00687" "COL4A5_000049" "g.107834341C>T" "" "{PMID:Hertz 2001:11462238}" "" "1422C>T (Q407X)" "de novo, grandpaternal" "De novo" "" "" "0" "" "" "g.108591111C>T" "" "pathogenic" "" "0000151387" "0" "90" "X" "107840737" "107840737" "subst" "0" "00687" "COL4A5_000074" "g.107840737G>A" "" "{PMID:Martin 1998:09848783}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108597507G>A" "" "pathogenic" "" "0000151388" "0" "90" "X" "107841932" "107841932" "subst" "0" "00687" "COL4A5_000077" "g.107841932G>A" "" "{PMID:Hertz 2001:11462238}" "" "1982G>A" "" "Germline" "" "" "0" "" "" "g.108598702G>A" "" "pathogenic" "" "0000151389" "0" "90" "X" "107841932" "107841932" "subst" "0" "00687" "COL4A5_000077" "g.107841932G>A" "" "{PMID:Hertz 2001:11462238}" "" "1982G>A" "" "Germline" "" "" "0" "" "" "g.108598702G>A" "" "pathogenic" "" "0000151390" "0" "90" "X" "107841932" "107841932" "subst" "0" "00687" "COL4A5_000077" "g.107841932G>A" "" "{PMID:Hertz 2001:11462238}" "" "1982G>A" "" "Germline" "" "" "0" "" "" "g.108598702G>A" "" "pathogenic" "" "0000151391" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Martin 1998:09848783}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000151392" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Tan 2010:2801648}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000151393" "0" "90" "X" "107842056" "107842056" "subst" "0" "00687" "COL4A5_000089" "g.107842056G>A" "" "{PMID:Martin 1998:09848783}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108598826G>A" "" "pathogenic" "" "0000151398" "0" "90" "X" "107863576" "107863576" "subst" "0" "00687" "COL4A5_000118" "g.107863576G>A" "" "{PMID:Renieri 1996:08651296}" "" "GGG-GAG" "" "Germline" "" "" "0" "" "" "g.108620346G>A" "" "pathogenic" "" "0000151400" "0" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000151401" "0" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "{PMID:Martin 1998:09848783}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000151402" "0" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "{PMID:Plant 1999:10094548} {PMID:Boye 1995:07599631}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000151403" "0" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "{PMID:Renieri 1996:08651296}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000151405" "0" "90" "X" "107865959" "107865959" "subst" "0" "00687" "COL4A5_000130" "g.107865959G>T" "" "{PMID:Martin 1998:09848783}" "" "aGGT-TGT" "" "Germline" "" "" "0" "" "" "g.108622729G>T" "" "pathogenic" "" "0000151406" "0" "90" "X" "107865996" "107865996" "subst" "0.0034612" "00687" "COL4A5_000132" "g.107865996G>T" "" "{PMID:Tan 2010:2801648}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108622766G>T" "" "pathogenic" "" "0000151407" "0" "90" "X" "107869545" "107869545" "subst" "0" "00687" "COL4A5_000148" "g.107869545C>G" "" "{PMID:Martin 1998:09848783}" "" "TCA-TGA" "" "Germline" "" "" "0" "" "" "g.108626315C>G" "" "pathogenic" "" "0000151408" "0" "90" "X" "107898633" "107898633" "subst" "0" "00687" "COL4A5_000153" "g.107898633G>A" "" "{PMID:Inoue 1999:10561141}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108655403G>A" "" "pathogenic" "" "0000151409" "0" "90" "X" "107908791" "107908791" "subst" "0" "00687" "COL4A5_000155" "g.107908791G>A" "" "{PMID:Martin 1998:09848783}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108665561G>A" "" "pathogenic" "" "0000151410" "0" "90" "X" "107908791" "107908791" "subst" "0" "00687" "COL4A5_000155" "g.107908791G>A" "" "{PMID:Zhou 1992:1352287}, {OMIM303630:0006}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108665561G>A" "" "pathogenic" "" "0000151412" "0" "90" "X" "107924186" "107924186" "subst" "0" "00687" "COL4A5_000181" "g.107924186G>A" "" "{PMID:Martin 1998:09848783}" "" "aGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108680956G>A" "" "pathogenic" "" "0000151413" "0" "90" "X" "107936016" "107936016" "subst" "0.00015701" "00687" "COL4A5_000197" "g.107936016C>A" "" "Tan (2009), jasavige@unimelb.edu.au" "" "gCCT-ACT" "" "Germline" "" "" "0" "" "" "g.108692786C>A" "" "pathogenic" "" "0000151414" "0" "90" "X" "107936080" "107936080" "subst" "0" "00687" "COL4A5_000199" "g.107936080G>C" "" "{PMID:Smeets 1992:01635357}" "" "TGG>TCG" "" "Germline" "" "" "0" "" "" "g.108692850G>C" "" "pathogenic" "" "0000151415" "0" "90" "X" "107936154" "107936154" "subst" "0" "00687" "COL4A5_000201" "g.107936154C>T" "" "{PMID:Inoue 1999:10561141}" "" "tCGA-TGA" "" "Germline" "" "" "0" "" "" "g.108692924C>T" "" "pathogenic" "" "0000151416" "0" "90" "X" "107936154" "107936154" "subst" "0" "00687" "COL4A5_000201" "g.107936154C>T" "" "{PMID:Knebelmann 1996:08940267}" "" "" "" "Germline" "" "" "0" "" "" "g.108692924C>T" "" "pathogenic" "" "0000151417" "0" "90" "X" "107936154" "107936154" "subst" "0" "00687" "COL4A5_000201" "g.107936154C>T" "" "{PMID:Zhou 1993:08455372}" "" "tCGA-TGA" "" "Germline" "" "" "0" "" "" "g.108692924C>T" "" "pathogenic" "" "0000151418" "0" "90" "X" "107936155" "107936155" "subst" "0" "00687" "COL4A5_000202" "g.107936155G>A" "" "Lemmink (1993) Genomics 17, 485; Lemmink (1994) Hum Mol Genet 3, 317;, Smeets 1992" "" "CGA-CAA" "" "Germline" "" "" "0" "" "" "g.108692925G>A" "" "pathogenic" "" "0000151419" "0" "90" "X" "107936155" "107936155" "subst" "0" "00687" "COL4A5_000202" "g.107936155G>A" "" "{PMID:Zhou 1993:08455372}" "" "CGA-CAA" "" "Germline" "" "" "0" "" "" "g.108692925G>A" "" "pathogenic" "" "0000151420" "0" "90" "X" "107936155" "107936155" "subst" "0" "00687" "COL4A5_000202" "g.107936155G>A" "" "Pont-Kingdon (2009) BMC Nephrol 10, 38" "" "CGA-CAA" "" "Germline" "" "" "0" "" "" "g.108692925G>A" "" "pathogenic" "" "0000151421" "0" "90" "X" "107938151" "107938151" "subst" "0" "00687" "COL4A5_000208" "g.107938151G>A" "" "Boye 1995" "" "ATGgt-ATAgt" "" "Germline" "" "" "0" "" "" "g.108694921G>A" "" "pathogenic" "" "0000151422" "0" "90" "X" "107938151" "107938151" "subst" "0" "00687" "COL4A5_000208" "g.107938151G>A" "" "{PMID:Kawai 1996:08648925}" "" "ATGgt-ATAgt" "" "Germline" "" "" "0" "" "" "g.108694921G>A" "" "pathogenic" "" "0000151423" "0" "90" "X" "107938639" "107938639" "subst" "0" "00687" "COL4A5_000210" "g.107938639T>G" "" "{PMID:Martin 1998:09848783}" "" "CTG-CGG" "" "Germline" "" "" "0" "" "" "g.108695409T>G" "" "pathogenic" "" "0000151424" "0" "90" "X" "107938639" "107938639" "subst" "0" "00687" "COL4A5_000210" "g.107938639T>G" "" "{PMID:Barker 2001:11223851}" "" "CTG-CGG" "" "Germline" "" "" "0" "" "" "g.108695409T>G" "" "pathogenic" "" "0000151425" "0" "90" "X" "107939579" "107939579" "subst" "0" "00687" "COL4A5_000212" "g.107939579C>T" "" "{PMID:Hertz 2001:11462238}" "" "5231C>T" "" "Germline" "" "" "0" "" "" "g.108696349C>T" "" "pathogenic" "" "0000151426" "0" "90" "X" "107939579" "107939579" "subst" "0" "00687" "COL4A5_000212" "g.107939579C>T" "" "{PMID:Inoue 1999:10561141}" "" "cCGA-TGA" "" "Germline" "" "" "0" "" "" "g.108696349C>T" "" "pathogenic" "" "0000151427" "0" "90" "X" "107939579" "107939579" "subst" "0" "00687" "COL4A5_000212" "g.107939579C>T" "" "{PMID:Martin 1998:09848783}" "" "cCGA-TGA" "" "Germline" "" "" "0" "" "" "g.108696349C>T" "" "pathogenic" "" "0000151428" "0" "90" "X" "107939580" "107939580" "subst" "2.23958E-5" "00687" "COL4A5_000213" "g.107939580G>A" "" "{PMID:Barker 2001:11223851}" "" "CGA-CAA" "" "Germline" "" "" "0" "" "" "g.108696350G>A" "" "pathogenic" "" "0000151429" "0" "90" "X" "107827758" "107827761" "del" "0" "00687" "COL4A5_000218" "g.107827758_107827761del" "" "{PMID:Heiskari 1996:08738805}" "" "IVS18+1delGTAA" "" "Germline" "" "" "0" "" "" "g.108584528_108584531del" "" "pathogenic" "" "0000151431" "0" "90" "X" "107840299" "107840299" "subst" "0" "00687" "COL4A5_000249" "g.107840299G>A" "" "{PMID:Martin 1998:09848783}" "" "IVS23+1" "" "Germline" "" "" "0" "" "" "g.108597069G>A" "" "pathogenic" "" "0000151434" "0" "90" "X" "107908818" "107908818" "subst" "0" "00687" "COL4A5_000265" "g.107908818G>T" "" "{PMID:Hertz 2001:11462238}" "" "3656+1G>T" "" "Germline" "" "" "0" "" "" "g.108665588G>T" "" "pathogenic" "" "0000151435" "0" "90" "X" "107910362" "107910362" "subst" "0" "00687" "COL4A5_000267" "g.107910362G>A" "" "{PMID:Barker 2001:11223851}" "" "IVS39-1" "" "Germline" "" "" "0" "" "" "g.108667132G>A" "" "pathogenic" "" "0000151436" "0" "90" "X" "107910360" "107910360" "subst" "0" "00687" "COL4A5_000268" "g.107910360C>G" "" "{PMID:Martin 2000:10862091}" "" "IVS39-3" "" "Germline" "" "" "0" "" "" "g.108667130C>G" "" "pathogenic" "" "0000151437" "0" "90" "X" "107930925" "107930925" "subst" "0" "00687" "COL4A5_000278" "g.107930925G>C" "" "Nakazato (1995) Am J Kidney Dis 26, 732" "" "IVS49+1" "" "Germline" "" "" "0" "" "" "g.108687695G>C" "" "pathogenic" "" "0000151438" "0" "90" "X" "107834816" "107834824" "del" "0" "00687" "COL4A5_000282" "g.107834816_107834824del" "" "{PMID:Martin 1998:09848783}" "" "1567del9" "" "Germline" "" "" "0" "" "" "g.108591586_108591594del" "" "pathogenic" "" "0000151439" "0" "90" "X" "107838798" "107838833" "del" "0" "00687" "COL4A5_000284" "g.107838798_107838833del" "" "{PMID:Renieri 1996:08651296}" "" "1685del36 delQPGLPGLPGPPG" "" "Germline" "" "" "0" "" "" "g.108595568_108595603del" "" "pathogenic" "" "0000151442" "0" "90" "X" "107821594" "107821595" "del" "0" "00687" "COL4A5_000301" "g.107821594_107821595del" "" "{PMID:Kawai 1996:08648925}" "" "761delAG" "" "Germline" "" "" "0" "" "" "g.108578364_108578365del" "" "pathogenic" "" "0000151443" "0" "90" "X" "107829886" "107829886" "del" "0" "00687" "COL4A5_000305" "g.107829886del" "" "{PMID:Kawai 1996:08648925}" "" "" "" "Germline" "" "" "0" "" "" "g.108586656del" "" "pathogenic" "" "0000151446" "0" "90" "X" "107911558" "107911558" "del" "0" "00687" "COL4A5_000329" "g.107911558del" "" "Tan (2009), jasavige@unimelb.edu.au" "" "3613delG" "" "Germline" "" "" "0" "" "" "g.108668328del" "" "pathogenic" "" "0000151448" "0" "90" "X" "107938661" "107938661" "del" "0" "00687" "COL4A5_000345" "g.107938661del" "" "Kitagawa 1995" "" "" "" "Germline" "" "" "0" "" "" "g.108695431del" "" "pathogenic" "" "0000151449" "0" "90" "X" "107939544" "107939551" "del" "0" "00687" "COL4A5_000346" "g.107939544_107939551del" "" "Boye 1995" "" "" "" "Germline" "" "" "0" "" "" "g.108696314_108696321del" "" "pathogenic" "" "0000151450" "0" "90" "X" "107819143" "107819143" "dup" "0" "00687" "COL4A5_000350" "g.107819143dup" "" "{PMID:Martin 1998:09848783}" "" "752insC (after)" "" "Germline" "" "" "0" "" "" "g.108575913dup" "" "pathogenic" "" "0000151452" "0" "90" "X" "107865940" "107865940" "dup" "0" "00687" "COL4A5_000357" "g.107865940dup" "" "{PMID:Martin 1998:09848783}" "" "3004insT (after)" "" "Germline" "" "" "0" "" "" "g.108622710dup" "" "pathogenic" "" "0000151454" "1" "90" "X" "107553977" "107683437" "" "0" "00687" "COL4A5_000374" "g.(107464605_107553977)_(107683437_107782975)del" "" "{PMID:Wang 2002:12478350}" "" "COL4A6 E3 to COL4A5 E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151455" "0" "90" "X" "107683355" "107683437" "" "0" "00687" "COL4A5_000985" "g.(?_107683355)_(107683437_107782975)del" "" "{PMID:Antignac 1992:1453602}" "" "_E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151456" "1" "90" "X" "107681171" "107683437" "" "0" "00687" "COL4A5_000375" "g.(107554059_107681171)_(107683437_107782975)del" "" "{PMID:Renieri 1994:07833948}" "" "COL4A6 E2 to COL4A5 E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151457" "0" "90" "X" "107840758" "107842198" "del" "0" "00687" "COL4A5_000387" "g.107840758_107842198del" "" "Boye 1995" "" "E24(1941)_IVS25+98del" "" "Germline" "" "" "0" "" "" "g.108597528_108598968del" "" "pathogenic" "" "0000151458" "0" "90" "X" "107911548" "107939609" "del" "0" "00687" "COL4A5_000394" "g.(107910414_107911548)_(107939609_?)del" "" "" "" "E41_E51del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151459" "0" "90" "X" "107911548" "107939609" "del" "0" "00687" "COL4A5_000394" "g.(107910414_107911548)_(107939609_?)del" "" "Vetrie (1992) Genomics 14, 624" "" "E41_E51del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151460" "0" "90" "X" "107938036" "107939609" "del" "0" "00687" "COL4A5_000397" "g.(107936156_107938036)_(107939609_?)del" "" "Saito 1994" "" "E51_E53del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151461" "0" "90" "X" "107908736" "107939609" "del" "0" "00687" "COL4A5_000398" "g.(107898688_107908736)_(107939609_?)dup" "" "{PMID:Boye 1991:01783380}" "" "E38_51dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151462" "0" "90" "X" "107908736" "107939609" "del" "0" "00687" "COL4A5_000398" "g.(107898688_107908736)_(107939609_?)dup" "" "Vetrie 1992" "" "E38_51dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151463" "0" "10" "X" "107829907" "107829907" "subst" "0.0442794" "00687" "COL4A5_000402" "g.107829907G>C" "" "{PMID:Barker 2001:11223851}" "" "GGG-GGA" "" "Germline" "" "" "0" "" "" "g.108586677G>C" "" "benign" "" "0000151464" "0" "10" "X" "107829907" "107829907" "subst" "0.0442794" "00687" "COL4A5_000402" "g.107829907G>C" "" "{PMID:Inoue 1999:10561141}" "" "GGG-GGA" "" "Germline" "" "" "0" "" "" "g.108586677G>C" "" "benign" "" "0000151465" "0" "10" "X" "107829907" "107829907" "subst" "0.0442794" "00687" "COL4A5_000402" "g.107829907G>C" "" "{PMID:Kawai 1996:08648925}" "" "GGG-GGA" "" "Germline" "" "" "0" "" "" "g.108586677G>C" "" "benign" "" "0000151466" "0" "10" "X" "107829907" "107829907" "subst" "0.0442794" "00687" "COL4A5_000402" "g.107829907G>C" "" "{PMID:Knebelmann 1996:08940267}" "" "GGG-GGA" "" "Germline" "" "" "0" "" "" "g.108586677G>C" "" "benign" "" "0000151467" "0" "90" "X" "107834411" "107834411" "subst" "0.00478917" "00687" "COL4A5_000403" "g.107834411C>A" "" "{PMID:Knebelmann 1996:08940267}" "" "GCT-GAT" "" "Germline" "" "" "0" "" "" "g.108591181C>A" "" "pathogenic" "" "0000151468" "0" "90" "X" "107834453" "107834453" "subst" "0.0434731" "00687" "COL4A5_000404" "g.107834453T>G" "" "{PMID:Barker 2001:11223851}" "" "ATT-AGT" "" "Germline" "" "" "0" "" "" "g.108591223T>G" "" "pathogenic" "" "0000151469" "0" "90" "X" "107834453" "107834453" "subst" "0.0434731" "00687" "COL4A5_000404" "g.107834453T>G" "" "{PMID:Kawai 1996:08648925}" "" "ATT-AGT" "" "Germline" "" "" "0" "" "" "g.108591223T>G" "" "pathogenic" "" "0000151470" "0" "90" "X" "107834453" "107834453" "subst" "0.0434731" "00687" "COL4A5_000404" "g.107834453T>G" "" "{PMID:Knebelmann 1996:08940267}" "" "ATT-AGT" "" "Germline" "" "" "0" "" "" "g.108591223T>G" "" "pathogenic" "" "0000151471" "0" "90" "X" "107844666" "107844666" "subst" "0.00798301" "00687" "COL4A5_000002" "g.107844666G>T" "" "{PMID:Knebelmann 1996:08940267}" "" "AAG-AAT" "" "Germline" "" "" "0" "" "" "g.108601436G>T" "" "pathogenic" "" "0000151472" "0" "10" "X" "107845128" "107845128" "subst" "0.0431482" "00687" "COL4A5_000408" "g.107845128T>C" "" "{PMID:Inoue 1999:10561141}" "" "CTT-CTC" "" "Germline" "" "" "0" "" "" "g.108601898T>C" "" "benign" "" "0000151473" "0" "10" "X" "107850076" "107850076" "subst" "0.0438653" "00687" "COL4A5_000409" "g.107850076G>A" "" "{PMID:Inoue 1999:10561141}" "" "CCG-CCA" "" "Germline" "" "" "0" "" "" "g.108606846G>A" "" "benign" "" "0000151474" "0" "10" "X" "107909784" "107909784" "subst" "0.0508792" "00687" "COL4A5_000411" "g.107909784A>G" "" "{PMID:Barker 2001:11223851}" "" "CAA-CAG" "" "Germline" "" "" "0" "" "" "g.108666554A>G" "" "benign" "" "0000151475" "0" "10" "X" "107909784" "107909784" "subst" "0.0508792" "00687" "COL4A5_000411" "g.107909784A>G" "" "{PMID:Inoue 1999:10561141}" "" "CAA-CAG" "" "Germline" "" "" "0" "" "" "g.108666554A>G" "" "benign" "" "0000151476" "0" "10" "X" "107909784" "107909784" "subst" "0.0508792" "00687" "COL4A5_000411" "g.107909784A>G" "" "{PMID:Kawai 1996:08648925}" "" "CAA-CAG" "" "Germline" "" "" "0" "" "" "g.108666554A>G" "" "benign" "" "0000151477" "0" "10" "X" "107909784" "107909784" "subst" "0.0508792" "00687" "COL4A5_000411" "g.107909784A>G" "" "{PMID:Knebelmann 1996:08940267}" "" "CAA-CAG" "" "Germline" "" "" "0" "" "" "g.108666554A>G" "" "benign" "" "0000151478" "0" "10" "X" "107929337" "107929337" "subst" "0.0355565" "00687" "COL4A5_000414" "g.107929337C>T" "" "{PMID:Barker 2001:11223851}" "" "GAC-GAT" "" "Germline" "" "" "0" "" "" "g.108686107C>T" "" "benign" "" "0000151479" "0" "10" "X" "107929337" "107929337" "subst" "0.0355565" "00687" "COL4A5_000414" "g.107929337C>T" "" "{PMID:Inoue 1999:10561141}" "" "GAC-GAT" "" "Germline" "" "" "0" "" "" "g.108686107C>T" "" "benign" "" "0000151480" "0" "10" "X" "107929337" "107929337" "subst" "0.0355565" "00687" "COL4A5_000414" "g.107929337C>T" "" "{PMID:Knebelmann 1996:08940267}" "" "4477C>T (D1425D)" "" "Germline" "" "" "0" "" "" "g.108686107C>T" "" "benign" "" "0000151481" "0" "10" "X" "107819223" "107819223" "subst" "0.299215" "00687" "COL4A5_000417" "g.107819223T>C" "" "Martin 1998" "" "IVS10+21T>C" "" "Germline" "" "" "0" "" "" "g.108575993T>C" "" "benign" "" "0000151482" "0" "10" "X" "107819223" "107819223" "subst" "0.299215" "00687" "COL4A5_000417" "g.107819223T>C" "" "{PMID:Hertz 2001:11462238}" "" "811+21T>C" "" "Germline" "" "" "0" "" "" "g.108575993T>C" "" "benign" "" "0000151483" "0" "10" "X" "107819223" "107819223" "subst" "0.299215" "00687" "COL4A5_000417" "g.107819223T>C" "" "{PMID:Zhou 1992:1352287}, {OMIM303630:0006}" "" "IVS10+21T>C" "" "Germline" "" "" "0" "" "" "g.108575993T>C" "" "benign" "" "0000151484" "0" "90" "X" "107840292" "107840307" "del" "0" "00687" "COL4A5_000312" "g.107840292_107840307del" "" "{PMID:Plant 1999:10094548}" "" "1581delATTACCAGTAAGTTTT" "" "Germline" "" "" "0" "" "" "g.108597062_108597077del" "" "pathogenic" "" "0000151485" "0" "90" "X" "107683356" "107683356" "subst" "0" "00687" "COL4A5_000004" "g.107683356A>G" "" "{PMID:Renieri 1996:08651296}" "" "Met1Val" "" "Germline" "" "" "0" "" "" "g.108440126A>G" "" "pathogenic" "" "0000151486" "0" "90" "X" "107782975" "107939609" "del" "0" "00687" "COL4A5_000383" "g.(107683437_107782975)_(107939609_?)del" "" "{PMID:Plant 1999:10094548}" "" "E2_E51del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151487" "0" "50" "X" "107683419" "107683419" "subst" "0" "00687" "COL4A5_000421" "g.107683419C>T" "" "{PMID:Pan 2004:14993485}" "" "gCAG-TAG" "" "Germline" "" "" "0" "" "" "g.108440189C>T" "" "VUS" "" "0000151488" "0" "50" "X" "107819186" "107819186" "subst" "0" "00687" "COL4A5_000422" "g.107819186G>A" "" "{PMID:Slajpah 2007:17396119}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108575956G>A" "" "VUS" "" "0000151489" "0" "50" "X" "107821210" "107821210" "subst" "0" "00687" "COL4A5_000423" "g.107821210G>A" "" "{PMID:King 2006:16941480}" "" "GGA-GAA" "" "Unknown" "" "" "0" "" "" "g.108577980G>A" "" "VUS" "" "0000151490" "0" "50" "X" "107824249" "107824249" "subst" "0" "00687" "COL4A5_000424" "g.107824249G>A" "" "{PMID:Slajpah 2007:17396119}" "" "aGGA-aAGA" "" "Unknown" "" "" "0" "" "" "g.108581019G>A" "" "VUS" "" "0000151491" "0" "50" "X" "107826114" "107826114" "subst" "0" "00687" "COL4A5_000425" "g.107826114G>A" "" "{PMID:King 2006:16941480}" "" "tGGT-tAGT" "" "Unknown" "" "" "0" "" "" "g.108582884G>A" "" "VUS" "" "0000151492" "0" "50" "X" "107826133" "107826133" "subst" "0" "00687" "COL4A5_000426" "g.107826133G>A" "" "{PMID:Slajpah 2007:17396119}" "" "GGT-GAT" "" "Unknown" "" "" "0" "" "" "g.108582903G>A" "" "VUS" "" "0000151493" "0" "50" "X" "107840273" "107840273" "subst" "0" "00687" "COL4A5_000427" "g.107840273G>A" "" "{PMID:King 2006:16941480}" "" "GGT-GAT" "" "Unknown" "" "" "0" "" "" "g.108597043G>A" "" "VUS" "" "0000151494" "0" "50" "X" "107844671" "107844671" "subst" "0" "00687" "COL4A5_000428" "g.107844671G>A" "" "{PMID:Slajpah 2007:17396119}" "" "GGC-GAC" "" "Unknown" "" "" "0" "" "" "g.108601441G>A" "" "VUS" "" "0000151495" "0" "50" "X" "107845160" "107845160" "subst" "0" "00687" "COL4A5_000429" "g.107845160G>A" "" "{PMID:King 2006:16941480}" "" "GGT-GAT" "" "Unknown" "" "" "0" "" "" "g.108601930G>A" "" "VUS" "" "0000151496" "0" "50" "X" "107850087" "107850087" "subst" "0" "00687" "COL4A5_000431" "g.107850087G>T" "" "{PMID:King 2006:16941480}" "" "GGA-GTA" "" "Unknown" "" "" "0" "" "" "g.108606857G>T" "" "VUS" "" "0000151497" "0" "50" "X" "107844679" "107844679" "subst" "0" "00687" "COL4A5_000432" "g.107844679G>C" "" "{PMID:Plant 1999:10094548}" "" "tGGT-tCGT" "" "Unknown" "" "" "0" "" "" "g.108601449G>C" "" "VUS" "" "0000151498" "0" "50" "X" "107865101" "107865101" "subst" "0" "00687" "COL4A5_000128" "g.107865101A>G" "0.79" "{PMID:Barker 2001:11223851}" "" "gAGT-gGGT" "" "Unknown" "" "" "0" "" "" "g.108621871A>G" "" "VUS" "" "0000151499" "0" "50" "X" "107865926" "107865926" "subst" "0" "00687" "COL4A5_000434" "g.107865926C>T" "" "{PMID:Wang 2005:15780079}" "" "2990C>T" "" "Unknown" "" "" "0" "" "" "g.108622696C>T" "" "VUS" "" "0000151500" "0" "50" "X" "107867547" "107867547" "subst" "0" "00687" "COL4A5_000438" "g.107867547G>T" "" "{PMID:Kaneko 2010:19937058}" "" "GGA-GTA" "" "Unknown" "" "" "0" "" "" "g.108624317G>T" "" "VUS" "" "0000151501" "0" "50" "X" "107868998" "107868998" "subst" "0" "00687" "COL4A5_000439" "g.107868998G>T" "" "{PMID:Wang 2005:15780079}" "" "3282G>T" "" "Unknown" "" "" "0" "" "" "g.108625768G>T" "" "VUS" "" "0000151502" "0" "50" "X" "107911638" "107911638" "subst" "0" "00687" "COL4A5_000440" "g.107911638G>A" "" "{PMID:Wang 2005:15780079}" "" "3896G>A" "" "Unknown" "" "" "0" "" "" "g.108668408G>A" "" "VUS" "" "0000151503" "0" "50" "X" "107923924" "107923924" "subst" "0.000308555" "00687" "COL4A5_000441" "g.107923924C>T" "" "{PMID:Pan 2004:14993485}" "" "CCG-CTG" "" "Unknown" "" "" "0" "" "" "g.108680694C>T" "" "VUS" "" "0000151504" "0" "50" "X" "107930756" "107930756" "subst" "0" "00687" "COL4A5_000442" "g.107930756G>A" "" "{PMID:Wang 2005:15780079}" "" "4544G>A" "" "Unknown" "" "" "0" "" "" "g.108687526G>A" "" "VUS" "" "0000151505" "0" "50" "X" "107930739" "107930739" "subst" "0" "00687" "COL4A5_000443" "g.107930739G>C" "" "HoPker (2009) Clinical Nephrology 71, 321" "" "GGT-GCT" "" "Unknown" "" "" "0" "" "" "g.108687509G>C" "" "VUS" "" "0000151506" "0" "50" "X" "107930738" "107930738" "subst" "0" "00687" "COL4A5_000444" "g.107930738G>C" "" "{PMID:King 2006:16941480}" "" "tGGT-CGT" "" "Unknown" "" "" "0" "" "" "g.108687508G>C" "" "VUS" "" "0000151507" "0" "50" "X" "107938105" "107938105" "subst" "0" "00687" "COL4A5_000446" "g.107938105G>T" "" "{PMID:Wang 2005:15780079}" "" "4959G>T" "" "Unknown" "" "" "0" "" "" "g.108694875G>T" "" "VUS" "" "0000151508" "0" "50" "X" "107939555" "107939555" "subst" "0" "00687" "COL4A5_000448" "g.107939555G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.108696325G>A" "" "VUS" "" "0000151509" "0" "50" "X" "107938606" "107938606" "subst" "0" "00687" "COL4A5_000449" "g.107938606G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.108695376G>A" "" "VUS" "" "0000151510" "0" "50" "X" "107938669" "107938669" "subst" "0" "00687" "COL4A5_000211" "g.107938669G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.108695439G>A" "" "VUS" "" "0000151511" "0" "90" "X" "107911654" "107911705" "del" "0" "00687" "COL4A5_000333" "g.107911654_107911705del" "" "{PMID:Kawai 1996:08648925}" "" "3710delCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAACCC" "" "Germline" "" "" "0" "" "" "g.108668424_108668475del" "" "pathogenic" "" "0000151512" "0" "90" "X" "107816867" "107816867" "subst" "0" "00687" "COL4A5_000564" "g.107816867G>T" "" "{PMID:Blasi 2000:11004279}" "" "aGGT-TGT" "" "Germline" "" "" "0" "" "" "g.108573637G>T" "" "pathogenic" "" "0000151513" "0" "90" "X" "107821183" "107821183" "subst" "0" "00687" "COL4A5_000565" "g.107821183G>A" "" "{PMID:Gross 2002:12105244}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108577953G>A" "" "pathogenic" "" "0000151514" "0" "90" "X" "107824241" "107824241" "subst" "0" "00687" "COL4A5_000566" "g.107824241G>A" "" "{PMID:Gross 2002:12105244}" "" "GGG-GAC" "" "Germline" "" "" "0" "" "" "g.108581011G>A" "" "pathogenic" "" "0000151515" "0" "90" "X" "107827724" "107827724" "subst" "0" "00687" "COL4A5_000567" "g.107827724G>T" "" "" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108584494G>T" "" "pathogenic" "" "0000151516" "0" "90" "X" "107834411" "107834411" "subst" "0.00478917" "00687" "COL4A5_000403" "g.107834411C>A" "" "{PMID:Tan 2010:2801648}" "" "GCT-GAT" "" "Germline" "" "" "0" "" "" "g.108591181C>A" "" "pathogenic" "" "0000151517" "1" "30" "X" "107834453" "107834453" "subst" "0.0434731" "00687" "COL4A5_000404" "g.107834453T>G" "" "{PMID:Wang 2005:15780079}" "" "1533T>G" "" "Germline" "" "" "0" "" "" "g.108591223T>G" "" "likely benign" "" "0000151518" "0" "90" "X" "107840709" "107840709" "subst" "0" "00687" "COL4A5_000072" "g.107840709G>C" "" "{PMID:Neri 2005:16521290}" "" "GGT-TGT" "" "Germline" "" "" "0" "" "" "g.108597479G>C" "" "pathogenic" "" "0000151519" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Slajpah 2007:17396119}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000151520" "0" "90" "X" "107840617" "107840617" "subst" "0" "00687" "COL4A5_000568" "g.107840617G>A" "" "{PMID:Pont-Kingdon 2009:19919694}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108597387G>A" "" "pathogenic" "" "0000151521" "0" "90" "X" "107840662" "107840662" "subst" "0" "00687" "COL4A5_000569" "g.107840662G>A" "" "{PMID:Pont-Kingdon 2009:19919694}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108597432G>A" "" "pathogenic" "" "0000151522" "0" "50" "X" "107844679" "107844679" "subst" "0" "00687" "COL4A5_000432" "g.107844679G>C" "" "{PMID:Slajpah 2007:17396119}" "" "tGGT-tCGT" "" "Germline" "" "" "0" "" "" "g.108601449G>C" "" "VUS" "" "0000151523" "0" "50" "X" "107844679" "107844679" "subst" "0" "00687" "COL4A5_000432" "g.107844679G>C" "" "{PMID:Wang 2005:15780079}" "" "2207G>C" "" "Germline" "" "" "0" "" "" "g.108601449G>C" "" "VUS" "" "0000151524" "0" "90" "X" "107845171" "107845171" "subst" "0" "00687" "COL4A5_000570" "g.107845171G>T" "" "{PMID:Hertz 2008:18616531}" "" "aGAA-TAA" "" "Germline" "" "" "0" "" "" "g.108601941G>T" "" "pathogenic" "" "0000151525" "1" "90" "X" "107845180" "107845180" "subst" "0" "00687" "COL4A5_000571" "g.107845180A>G" "" "{PMID:Wang 2005:15780079}" "" "2309A>G" "" "Germline" "" "" "0" "" "" "g.108601950A>G" "" "pathogenic" "" "0000151526" "0" "90" "X" "107846202" "107846202" "subst" "0" "00687" "COL4A5_000572" "g.107846202G>A" "" "{PMID:Pont-Kingdon 2009:19919694}" "" "tGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108602972G>A" "" "pathogenic" "" "0000151527" "0" "90" "X" "107850015" "107850015" "subst" "0" "00687" "COL4A5_000573" "g.107850015G>A" "" "{PMID:Pont-Kingdon 2009:19919694}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108606785G>A" "" "pathogenic" "" "0000151528" "0" "90" "X" "107858176" "107858176" "subst" "0" "00687" "COL4A5_000574" "g.107858176G>A" "" "{PMID:Slajpah 2007:17396119}" "" "gGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108614946G>A" "" "pathogenic" "" "0000151529" "0" "90" "X" "107863534" "107863534" "subst" "0" "00687" "COL4A5_000575" "g.107863534G>T" "" "{PMID:Pan 2004:14993485}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108620304G>T" "" "pathogenic" "" "0000151530" "0" "10" "X" "107829907" "107829907" "subst" "0.0442794" "00687" "COL4A5_000402" "g.107829907G>C" "" "Tan (2008)" "" "GGG-GGA" "" "Germline" "" "" "0" "" "" "g.108586677G>C" "" "benign" "" "0000151531" "0" "90" "X" "107834455" "107834455" "subst" "0" "00687" "COL4A5_000576" "g.107834455C>T" "" "{PMID:Pan 2004:14993485}" "" "tCCT-TCT" "" "Germline" "" "" "0" "" "" "g.108591225C>T" "" "pathogenic" "" "0000151532" "0" "90" "X" "107834455" "107834455" "subst" "0" "00687" "COL4A5_000576" "g.107834455C>T" "" "Wang (2009)" "" "tCCT-TCT" "" "Germline" "" "" "0" "" "" "g.108591225C>T" "" "pathogenic" "" "0000151533" "1" "30" "X" "107834313" "107834313" "subst" "0" "00687" "COL4A5_000577" "g.107834313C>G" "" "{PMID:Wang 2005:15780079}" "" "1393C>G" "" "Germline" "" "" "0" "" "" "g.108591083C>G" "" "likely benign" "" "0000151534" "0" "10" "X" "107850076" "107850076" "subst" "0.0438653" "00687" "COL4A5_000409" "g.107850076G>A" "" "{PMID:Pan 2004:14993485}" "" "CCG-CCA" "" "Germline" "" "" "0" "" "" "g.108606846G>A" "" "benign" "" "0000151535" "0" "10" "X" "107850076" "107850076" "subst" "0.0438653" "00687" "COL4A5_000409" "g.107850076G>A" "" "Tan (2008)" "" "CCG-CCA" "" "Germline" "" "" "0" "" "" "g.108606846G>A" "" "benign" "" "0000151536" "0" "10" "X" "107850076" "107850076" "subst" "0.0438653" "00687" "COL4A5_000409" "g.107850076G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "CCG-CCA" "" "Germline" "" "" "0" "" "" "g.108606846G>A" "" "benign" "" "0000151537" "1" "30" "X" "107845128" "107845128" "subst" "0.0431482" "00687" "COL4A5_000408" "g.107845128T>C" "" "{PMID:Wang 2005:15780079}" "" "2257C>T" "" "Germline" "" "" "0" "" "" "g.108601898T>C" "" "likely benign" "" "0000151538" "0" "10" "X" "107845128" "107845128" "subst" "0.0431482" "00687" "COL4A5_000408" "g.107845128T>C" "" "Tan (2008)" "" "CTT-CTC" "" "Germline" "" "" "0" "" "" "g.108601898T>C" "" "benign" "" "0000151539" "0" "10" "X" "107845188" "107845188" "subst" "0" "00687" "COL4A5_000578" "g.107845188A>G" "" "{PMID:Pan 2004:14993485}" "" "GGA-GGG" "" "Germline" "" "" "0" "" "" "g.108601958A>G" "" "benign" "" "0000151540" "0" "10" "X" "107929337" "107929337" "subst" "0.0355565" "00687" "COL4A5_000414" "g.107929337C>T" "" "{PMID:Pan 2004:14993485}" "" "GAC-GAT" "" "Germline" "" "" "0" "" "" "g.108686107C>T" "" "benign" "" "0000151541" "0" "10" "X" "107929337" "107929337" "subst" "0.0355565" "00687" "COL4A5_000414" "g.107929337C>T" "" "Tan (2008)" "" "GAC-GAT" "" "Germline" "" "" "0" "" "" "g.108686107C>T" "" "benign" "" "0000151542" "0" "30" "X" "107920833" "107920833" "subst" "0" "00687" "COL4A5_000579" "g.107920833G>A" "" "Tan (2008)" "" "TTG-TTA" "" "Germline" "" "" "0" "" "" "g.108677603G>A" "" "likely benign" "" "0000151543" "0" "90" "X" "107936142" "107936142" "subst" "1.12146E-5" "00687" "COL4A5_000416" "g.107936142C>G" "" "{PMID:Wang 2005:15780079}" "" "gCCA-GCA" "" "Germline" "" "" "0" "" "" "g.108692912C>G" "" "pathogenic" "" "0000151544" "0" "30" "X" "107865996" "107865996" "subst" "0.0034612" "00687" "COL4A5_000132" "g.107865996G>T" "" "{PMID:Wang 2005:15780079}" "" "3060G>T" "" "Germline" "" "" "0" "" "" "g.108622766G>T" "" "likely benign" "" "0000151545" "0" "90" "X" "107925097" "107925097" "dup" "0" "00687" "COL4A5_000362" "g.107925097dup" "" "{PMID:Gross 2002:12105244}" "" "Pro1399fs insC" "" "Germline" "" "" "0" "" "" "g.108681867dup" "" "pathogenic" "" "0000151546" "0" "90" "X" "107908818" "107908818" "subst" "0" "00687" "COL4A5_000264" "g.107908818G>C" "" "{PMID:Gross 2002:12105244}" "" "IVS38+1" "" "Germline" "" "" "0" "" "" "g.108665588G>C" "" "pathogenic" "" "0000151547" "0" "90" "X" "107683437" "107683437" "subst" "0" "00687" "COL4A5_000580" "g.107683437G>T" "" "Pan (2004) Nephrol Dial Transplant 19, 1123" "" "IVS1+1" "" "Germline" "" "" "0" "" "" "g.108440207G>T" "" "pathogenic" "" "0000151548" "0" "90" "X" "107807109" "107807109" "subst" "5.63793E-6" "00687" "COL4A5_000581" "g.107807109C>A" "" "{PMID:Wang 2002:12478350}" "" "IVS3-3" "" "Germline" "" "" "0" "" "" "g.108563879C>A" "" "pathogenic" "" "0000151549" "0" "90" "X" "107807161" "107807161" "subst" "0" "00687" "COL4A5_000582" "g.107807161G>A" "" "{PMID:Nagel 2005:15954103}" "" "IVS4+5" "" "Germline" "" "" "0" "" "" "g.108563931G>A" "" "pathogenic" "" "0000151550" "0" "90" "X" "107814546" "107814546" "subst" "0" "00687" "COL4A5_000583" "g.107814546G>A" "" "Tan (2009) jasavige@unimelb.edu.au" "" "IVS6-97" "" "Germline" "" "" "0" "" "" "g.108571316G>A" "" "pathogenic" "" "0000151551" "0" "51" "X" "107814732" "107814732" "subst" "0.0354399" "00687" "COL4A5_000584" "g.107814732G>T" "" "Tan et al, (2008)" "" "IVS7+36" "" "Germline" "" "" "0" "" "" "g.108571502G>T" "" "VUS" "" "0000151552" "0" "90" "X" "107816787" "107816787" "subst" "0" "00687" "COL4A5_000585" "g.107816787T>G" "" "{PMID:Nagel 2005:15954103}" "" "IVS8-17" "" "Germline" "" "" "0" "" "" "g.108573557T>G" "" "pathogenic" "" "0000151553" "0" "90" "X" "107816792" "107816792" "subst" "0" "00687" "COL4A5_000586" "g.107816792G>A" "" "{PMID:Wang 2005:15780079}" "" "668-12G>A" "" "Germline" "" "" "0" "" "" "g.108573562G>A" "" "pathogenic" "" "0000151554" "0" "90" "X" "107821296" "107821297" "del" "0" "00687" "COL4A5_000587" "g.107821296_107821297del" "" "{PMID:Tazon-Vega 2007:17660027}" "" "IVS11-11_-12delTT" "" "Germline" "" "" "0" "" "" "g.108578066_108578067del" "" "pathogenic" "" "0000151555" "0" "90" "X" "107821615" "107821615" "subst" "0" "00687" "COL4A5_000588" "g.107821615T>G" "" "{PMID:Tazon-Vega 2007:17660027}" "" "IVS13+2" "" "Germline" "" "" "0" "" "" "g.108578385T>G" "" "pathogenic" "" "0000151556" "0" "90" "X" "107823821" "107823821" "subst" "0" "00687" "COL4A5_000589" "g.107823821G>T" "" "{PMID:Wang 2005:15780079}" "" "1036+5G>T" "" "Germline" "" "" "0" "" "" "g.108580591G>T" "" "pathogenic" "" "0000151557" "0" "90" "X" "107826113" "107826113" "subst" "0" "00687" "COL4A5_000590" "g.107826113G>A" "" "{PMID:Nagel 2005:15954103}" "" "IVS16-1" "" "Germline" "" "" "0" "" "" "g.108582883G>A" "" "pathogenic" "" "0000151558" "0" "90" "X" "107827780" "107827780" "subst" "0.0428292" "00687" "COL4A5_000591" "g.107827780G>A" "" "Pan (2004) Nephrol Dial Transplant 19, 1123" "" "IVS18+25" "" "Germline" "" "" "0" "" "" "g.108584550G>A" "" "pathogenic" "" "0000151559" "0" "90" "X" "107829840" "107829840" "subst" "0" "00687" "COL4A5_000592" "g.107829840G>T" "" "{PMID:Slajpah 2007:17396119}" "" "IVS18-5" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108586610G>T" "" "pathogenic" "" "0000151560" "0" "90" "X" "107834931" "107834931" "dup" "0" "00687" "COL4A5_000593" "g.107834931dup" "" "{PMID:Wang 2005:15780079}" "" "1625+56_1626+57insC" "" "Germline" "" "" "0" "" "" "g.108591701dup" "" "pathogenic" "" "0000151561" "0" "90" "X" "107838738" "107838738" "subst" "0" "00687" "COL4A5_000594" "g.107838738G>A" "" "{PMID:Wang 2005:15780079}" "" "1626-1G>A" "" "Germline" "" "" "0" "" "" "g.108595508G>A" "" "pathogenic" "" "0000151562" "0" "90" "X" "107838719" "107838719" "subst" "0" "00687" "COL4A5_000595" "g.107838719T>A" "" "Pont-Kingdon (2009) BMC Nephrol 10, 38" "" "IVS21-20" "" "Germline" "" "" "0" "" "" "g.108595489T>A" "" "pathogenic" "" "0000151563" "0" "90" "X" "107838832" "107838832" "subst" "0" "00687" "COL4A5_000596" "g.107838832G>A" "" "{PMID:Wang 2005:15780079}" "" "1718+1G>A" "" "Germline" "" "" "0" "" "" "g.108595602G>A" "" "pathogenic" "" "0000151564" "0" "90" "X" "107840227" "107840227" "subst" "0" "00687" "COL4A5_000597" "g.107840227G>T" "" "Tang(2008) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25, 649" "" "IVS22-1" "" "Germline" "" "" "0" "" "" "g.108596997G>T" "" "pathogenic" "" "0000151565" "0" "90" "X" "107841931" "107841931" "subst" "0" "00687" "COL4A5_000598" "g.107841931G>A" "" "King(2006) Hum Mutat 26, 1061" "" "IVS24-1" "" "Germline" "" "" "0" "" "" "g.108598701G>A" "" "pathogenic" "" "0000151566" "0" "90" "X" "107842101" "107842101" "subst" "0" "00687" "COL4A5_000599" "g.107842101G>T" "" "Pan (2004) Nephrol Dial Transplant 19, 1123" "" "IVS25+1" "" "Germline" "" "" "0" "" "" "g.108598871G>T" "" "pathogenic" "" "0000151567" "0" "90" "X" "107845097" "107845097" "subst" "0" "00687" "COL4A5_000600" "g.107845097A>G" "" "Savige (2008) Hum Mut 124, 293" "" "IVS26-18" "" "Germline" "" "" "0" "" "" "g.108601867A>G" "" "pathogenic" "" "0000151568" "0" "90" "X" "107845222" "107845222" "subst" "0" "00687" "COL4A5_000601" "g.107845222A>C" "" "{PMID:Nagel 2005:15954103}" "" "IVS27+3" "" "Germline" "" "" "0" "" "" "g.108601992A>C" "" "pathogenic" "" "0000151569" "0" "90" "X" "107846192" "107846192" "subst" "0" "00687" "COL4A5_000602" "g.107846192A>G" "" "{PMID:Nagel 2005:15954103}" "" "IVS27-2" "" "Germline" "" "" "0" "" "" "g.108602962A>G" "" "pathogenic" "" "0000151570" "0" "90" "X" "107846293" "107846293" "subst" "0" "00687" "COL4A5_000603" "g.107846293T>C" "" "King(2006) Hum Mutat 26, 1061" "" "IVS28+2" "" "Germline" "" "" "0" "" "" "g.108603063T>C" "" "pathogenic" "" "0000151571" "0" "90" "X" "107865124" "107865124" "del" "0" "00687" "COL4A5_000604" "g.107865124del" "" "{PMID:Tazon-Vega 2007:17660027}" "" "IVS322delT" "" "Germline" "" "" "0" "" "" "g.108621894del" "" "pathogenic" "" "0000151572" "0" "90" "X" "107869031" "107869042" "del" "0" "00687" "COL4A5_000605" "g.107869031_107869042del" "" "{PMID:Nagel 2005:15954103}" "" "IVS35+6" "" "Germline" "" "" "0" "" "" "g.108625801_108625812del" "" "pathogenic" "" "0000151573" "0" "90" "X" "107869028" "107869028" "del" "0" "00687" "COL4A5_000606" "g.107869028del" "" "{PMID:Nagel 2005:15954103}" "" "IVS35+4" "" "Germline" "" "" "0" "" "" "g.108625798del" "" "pathogenic" "" "0000151574" "0" "90" "X" "107910318" "107910318" "subst" "0" "00687" "COL4A5_000607" "g.107910318T>C" "" "Tan (2009) jasavige@unimelb.edu.au" "" "IVS39-45" "" "Germline" "" "" "0" "" "" "g.108667088T>C" "" "pathogenic" "" "0000151575" "0" "90" "X" "107910416" "107910416" "subst" "0" "00687" "COL4A5_000608" "g.107910416T>A" "" "{PMID:Nagel 2005:15954103}" "" "IVS40+3" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108667186T>A" "" "pathogenic" "" "0000151576" "0" "90" "X" "107923907" "107923907" "subst" "0" "00687" "COL4A5_000610" "g.107923907A>G" "" "{PMID:Nagel 2005:15954103}" "" "IVS42-2" "" "Germline" "" "" "0" "" "" "g.108680677A>G" "" "pathogenic" "" "0000151577" "0" "90" "X" "107924114" "107924114" "subst" "0" "00687" "COL4A5_000611" "g.107924114G>A" "" "{PMID:Tazon-Vega 2007:17660027}" "" "IVS43-1G>A" "" "Germline" "" "" "0" "" "" "g.108680884G>A" "" "pathogenic" "" "0000151578" "0" "90" "X" "107924113" "107924113" "subst" "0" "00687" "COL4A5_000612" "g.107924113A>T" "" "Krol (2008) Nephrol Dial Transplant 23, 2525" "" "IVS45-2" "" "Germline" "" "" "0" "" "" "g.108680883A>T" "" "pathogenic" "" "0000151579" "0" "90" "X" "107929260" "107929260" "subst" "0" "00687" "COL4A5_000613" "g.107929260G>A" "" "{PMID:Gross 2002:12105244}" "" "IVS47-1" "" "Germline" "" "" "0" "" "" "g.108686030G>A" "" "pathogenic" "" "0000151580" "0" "90" "X" "107929360" "107929360" "subst" "5.74693E-6" "00687" "COL4A5_000614" "g.107929360G>A" "" "{PMID:Wang 2005:15780079}" "" "4491+1G>A" "" "Germline" "" "" "0" "" "" "g.108686130G>A" "" "pathogenic" "" "0000151581" "0" "90" "X" "107938001" "107938001" "subst" "0.00486253" "00687" "COL4A5_000615" "g.107938001C>A" "" "Tan (2009) jasavige@unimelb.edu.au" "" "IVS50-36" "" "Germline" "" "" "0" "" "" "g.108694771C>A" "" "pathogenic" "" "0000151582" "0" "90" "X" "107938272" "107938272" "subst" "0" "00687" "COL4A5_000616" "g.107938272T>C" "" "Shimizu (2006) Neprol Dial Transplant 21, 1582" "" "IVS51+121" "" "Germline" "" "" "0" "" "" "g.108695042T>C" "" "pathogenic" "" "0000151583" "0" "90" "X" "107938345" "107938345" "dup" "0" "00687" "COL4A5_000617" "g.107938345dup" "" "Shimizu (2006) Neprol Dial Transplant 21, 1582" "" "IVS51-151insT" "" "Germline" "" "" "0" "" "" "g.108695115dup" "" "pathogenic" "" "0000151584" "0" "90" "X" "107868962" "107868962" "subst" "0" "00687" "COL4A5_000135" "g.107868962G>T" "" "{PMID:Wang 2005:15780079}" "" "3246G>T" "" "Germline" "" "" "0" "" "" "g.108625732G>T" "" "pathogenic" "" "0000151585" "0" "90" "X" "107869006" "107869006" "subst" "0" "00687" "COL4A5_000137" "g.107869006G>A" "" "{PMID:Wang 2005:15780079}" "" "3290G>A" "" "Germline" "" "" "0" "" "" "g.108625776G>A" "" "pathogenic" "" "0000151587" "0" "90" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "{PMID:Pont-Kingdon 2009:19919694}" "" "cGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "pathogenic" "" "0000151588" "0" "90" "X" "107938639" "107938639" "subst" "0" "00687" "COL4A5_000210" "g.107938639T>G" "" "{PMID:Pont-Kingdon 2009:19919694}" "" "CTG-CGG" "" "Germline" "" "" "0" "" "" "g.108695409T>G" "" "pathogenic" "" "0000151589" "0" "90" "X" "107939579" "107939579" "subst" "0" "00687" "COL4A5_000212" "g.107939579C>T" "" "{PMID:Tan 2010:2801648}" "" "cCGA-TGA" "" "Germline" "" "" "0" "" "" "g.108696349C>T" "" "pathogenic" "" "0000151590" "0" "90" "X" "107939580" "107939580" "subst" "2.23958E-5" "00687" "COL4A5_000213" "g.107939580G>A" "" "{PMID:Pont-Kingdon 2009:19919694}" "" "CGA-CCA" "" "Germline" "" "" "0" "" "" "g.108696350G>A" "" "pathogenic" "" "0000151592" "20" "90" "X" "107924186" "107924186" "subst" "0" "00687" "COL4A5_000181" "g.107924186G>A" "" "{PMID:Hertz 2001:11462238}" "" "4271G>A(G1357S)" "" "Germline" "" "" "0" "" "" "g.108680956G>A" "" "pathogenic" "" "0000151593" "0" "90" "X" "107898570" "107898570" "subst" "0" "00687" "COL4A5_000618" "g.107898570G>C" "" "{PMID:Tazon-Vega 2007:17660027}" "" "3256G>C" "" "Germline" "" "" "0" "" "" "g.108655340G>C" "" "pathogenic" "" "0000151594" "0" "90" "X" "107911644" "107911644" "subst" "0" "00687" "COL4A5_000619" "g.107911644C>T" "" "{PMID:Pont-Kingdon 2009:19919694}" "" "" "" "Germline" "" "" "0" "" "" "g.108668414C>T" "" "pathogenic" "" "0000151595" "0" "90" "X" "107936155" "107936155" "subst" "0" "00687" "COL4A5_000202" "g.107936155G>A" "" "Hertz (2001) Hum Mutat 18, 141" "" "CGA-CAA" "" "Germline" "" "" "0" "" "" "g.108692925G>A" "" "pathogenic" "" "0000151596" "0" "90" "X" "107936155" "107936155" "subst" "0" "00687" "COL4A5_000202" "g.107936155G>A" "" "{PMID:Gross 2002:12105244}" "" "CGA-CAA" "" "Germline" "" "" "0" "" "" "g.108692925G>A" "" "pathogenic" "" "0000151597" "0" "90" "X" "107936155" "107936155" "subst" "0" "00687" "COL4A5_000202" "g.107936155G>A" "" "Ars (2005) European J of Hum Genetics 13, 1040" "" "CGA-CAA" "" "Germline" "" "" "0" "" "" "g.108692925G>A" "" "pathogenic" "" "0000151598" "0" "90" "X" "107938038" "107938038" "subst" "0" "00687" "COL4A5_000620" "g.107938038T>C" "" "{PMID:Pont-Kingdon 2009:19919694}" "" "aTGT-CGT" "" "Germline" "" "" "0" "" "" "g.108694808T>C" "" "pathogenic" "" "0000151599" "0" "90" "X" "107938050" "107938050" "subst" "0" "00687" "COL4A5_000621" "g.107938050G>C" "" "{PMID:Tan 2010:2801648}" "" "GAA-CAA" "" "Germline" "" "" "0" "" "" "g.108694820G>C" "" "pathogenic" "" "0000151600" "0" "90" "X" "107938099" "107938099" "subst" "0" "00687" "COL4A5_000622" "g.107938099C>T" "" "{PMID:Pont-Kingdon 2009:19919694}" "" "CCC-CTC" "" "Germline" "" "" "0" "" "" "g.108694869C>T" "" "pathogenic" "" "0000151601" "0" "90" "X" "107938114" "107938114" "subst" "0" "00687" "COL4A5_000623" "g.107938114G>T" "" "{PMID:King 2006:16941480}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108694884G>T" "" "pathogenic" "" "0000151602" "0" "90" "X" "107938116" "107938116" "subst" "0" "00687" "COL4A5_000624" "g.107938116T>G" "" "{PMID:King 2006:16941480}" "" "aTGG-GGG" "" "Germline" "" "" "0" "" "" "g.108694886T>G" "" "pathogenic" "" "0000151603" "0" "90" "X" "107938138" "107938138" "subst" "0" "00687" "COL4A5_000625" "g.107938138A>G" "" "{PMID:Gross 2002:12105244}" "" "TAT-TGT" "" "Germline" "" "" "0" "" "" "g.108694908A>G" "" "pathogenic" "" "0000151604" "0" "90" "X" "107938606" "107938606" "subst" "0" "00687" "COL4A5_000449" "g.107938606G>A" "" "Wilson (2007) Nephrol Dial Transplant 22, 1338" "" "TGT-TAT" "" "Germline" "" "" "0" "" "" "g.108695376G>A" "" "pathogenic" "" "0000151605" "0" "90" "X" "107939570" "107939570" "subst" "0" "00687" "COL4A5_000627" "g.107939570C>T" "" "{PMID:Gross 2002:12105244}" "" "aCGA-TGA" "" "Germline" "" "" "0" "" "" "g.108696340C>T" "" "pathogenic" "" "0000151606" "0" "90" "X" "107939582" "107939582" "subst" "0" "00687" "COL4A5_000628" "g.107939582T>C" "" "{PMID:Gross 2002:12105244}" "" "aTGT-CGT" "" "Germline" "" "" "0" "" "" "g.108696352T>C" "" "pathogenic" "" "0000151607" "0" "90" "X" "107939592" "107939592" "subst" "0" "00687" "COL4A5_000629" "g.107939592G>T" "" "{PMID:Wang 2005:15780079}" "" "5244G>T" "" "Germline" "" "" "0" "" "" "g.108696362G>T" "" "pathogenic" "" "0000151608" "0" "90" "X" "107939592" "107939592" "subst" "0" "00687" "COL4A5_000630" "g.107939592G>A" "" "{PMID:Gross 2002:12105244} Netzer 1996" "" "TGC-TAC" "" "Germline" "" "" "0" "" "" "g.108696362G>A" "" "pathogenic" "" "0000151609" "0" "90" "X" "107683357" "107683358" "del" "0" "00687" "COL4A5_000631" "g.107683357_107683358del" "" "King (2006) Hum Mutat 27, 1061" "" "2delTG" "" "Germline" "" "" "0" "" "" "g.108440127_108440128del" "" "pathogenic" "" "0000151610" "0" "90" "X" "107683404" "107683405" "del" "0" "00687" "COL4A5_000632" "g.107683404_107683405del" "" "Ellison (2009) Hum Genet 126, 329" "" "49delCT" "" "Germline" "" "" "0" "" "" "g.108440174_108440175del" "" "pathogenic" "" "0000151611" "0" "90" "X" "107783013" "107783013" "del" "0" "00687" "COL4A5_000633" "g.107783013del" "" "{PMID:Tazon-Vega 2007:17660027}" "" "119delG" "" "Germline" "" "" "0" "" "" "g.108539783del" "" "pathogenic" "" "0000151612" "0" "90" "X" "107812035" "107812035" "del" "0" "00687" "COL4A5_000634" "g.107812035del" "" "{PMID:Nagel 2005:15954103}" "" "" "" "Germline" "" "" "0" "" "" "g.108568805del" "" "pathogenic" "" "0000151613" "0" "90" "X" "107823794" "107823794" "del" "0" "00687" "COL4A5_000635" "g.107823794del" "" "{PMID:Gross 2002:12105244}" "" "" "" "Germline" "" "" "0" "" "" "g.108580564del" "" "pathogenic" "" "0000151614" "0" "90" "X" "107834376" "107834376" "del" "0" "00687" "COL4A5_000636" "g.107834376del" "" "Nagel (2005 )Hum Mutat 26, 60" "" "" "" "Germline" "" "" "0" "" "" "g.108591146del" "" "pathogenic" "" "0000151615" "0" "90" "X" "107840672" "107840672" "del" "0" "00687" "COL4A5_000637" "g.107840672del" "" "{PMID:Wang 2005:15780079}" "" "1855 1856delC" "" "Germline" "" "" "0" "" "" "g.108597442del" "" "pathogenic" "" "0000151616" "0" "90" "X" "107844713" "107844713" "del" "0" "00687" "COL4A5_000638" "g.107844713del" "" "Peng (2004) Yi ChuanXue Bao 31, 1190" "" "2038delC" "" "Germline" "" "" "0" "" "" "g.108601483del" "" "pathogenic" "" "0000151617" "0" "90" "X" "107845130" "107845130" "del" "0" "00687" "COL4A5_000639" "g.107845130del" "" "{PMID:Tazon-Vega 2007:17660027}" "" "2057delC" "" "Germline" "" "" "0" "" "" "g.108601900del" "" "pathogenic" "" "0000151618" "0" "90" "X" "107858222" "107858222" "del" "0" "00687" "COL4A5_000640" "g.107858222del" "" "Pont-Kingdon (2009) BMC Nephrol 10, 38" "" "2476delC" "" "Germline" "" "" "0" "" "" "g.108614992del" "" "pathogenic" "" "0000151619" "0" "90" "X" "107863489" "107863489" "del" "0" "00687" "COL4A5_000641" "g.107863489del" "" "King (2006) Hum Mutat 27, 1061" "" "" "" "Germline" "" "" "0" "" "" "g.108620259del" "" "pathogenic" "" "0000151620" "0" "90" "X" "107863623" "107863623" "del" "0" "00687" "COL4A5_000642" "g.107863623del" "" "King (2006) Hum Mutat 27, 1061" "" "" "" "Germline" "" "" "0" "" "" "g.108620393del" "" "pathogenic" "" "0000151621" "0" "90" "X" "107865051" "107865060" "del" "0" "00687" "COL4A5_000643" "g.107865051_107865060del" "" "Zhang (2007)" "" "" "" "Germline" "" "" "0" "" "" "g.108621821_108621830del" "" "pathogenic" "" "0000151622" "0" "90" "X" "107908776" "107908776" "del" "0" "00687" "COL4A5_000644" "g.107908776del" "" "{PMID:Slajpah 2007:17396119}" "" "" "" "Germline" "" "" "0" "" "" "g.108665546del" "" "pathogenic" "" "0000151623" "0" "90" "X" "107925097" "107925097" "del" "0" "00687" "COL4A5_000645" "g.107925097del" "" "Pont-Kingdon (2009) BMC Nephrol 10, 38" "" "4192-4195delC" "" "Germline" "" "" "0" "" "" "g.108681867del" "" "pathogenic" "" "0000151624" "0" "90" "X" "107930763" "107930763" "del" "0" "00687" "COL4A5_000646" "g.107930763del" "" "Nagel(2005) Hum Mutat 26,60" "" "4363_4367delC" "" "Germline" "" "" "0" "" "" "g.108687533del" "" "pathogenic" "" "0000151625" "0" "90" "X" "107683393" "107683396" "dup" "0" "00687" "COL4A5_000647" "g.107683393_107683396dup" "" "Hertz (2001) Hum Mutat 18, 141" "" "41_42insTCTT" "" "Germline" "" "" "0" "" "" "g.108440163_108440166dup" "" "pathogenic" "" "0000151626" "0" "90" "X" "107815048" "107815048" "dup" "0" "00687" "COL4A5_000648" "g.107815048dup" "" "{PMID:Nagel 2005:15954103}" "" "442-447inC" "" "Germline" "" "" "0" "" "" "g.108571818dup" "" "pathogenic" "" "0000151627" "0" "90" "X" "107821310" "107821310" "dup" "0" "00687" "COL4A5_000649" "g.107821310dup" "" "{PMID:Nagel 2005:15954103}" "" "646insG" "" "Germline" "" "" "0" "" "" "g.108578080dup" "" "pathogenic" "" "0000151628" "0" "90" "X" "107821309" "107821310" "dup" "0" "00687" "COL4A5_000650" "g.107821309_107821310dup" "" "{PMID:Nagel 2005:15954103}" "" "648insGG" "" "Germline" "" "" "0" "" "" "g.108578079_108578080dup" "" "pathogenic" "" "0000151629" "0" "90" "X" "107834335" "107834335" "dup" "0" "00687" "COL4A5_000353" "g.107834335dup" "" "Tan et al (2009)" "" "1211insA" "" "Germline" "" "" "0" "" "" "g.108591105dup" "" "pathogenic" "" "0000151630" "0" "90" "X" "107834410" "107834410" "dup" "0" "00687" "COL4A5_000652" "g.107834410dup" "" "{PMID:Wang 2005:15780079}" "" "1486 1487insG" "" "Germline" "" "" "0" "" "" "g.108591180dup" "" "pathogenic" "" "0000151631" "0" "90" "X" "107865063" "107865063" "dup" "0" "00687" "COL4A5_000653" "g.107865063dup" "" "{PMID:Tazon-Vega 2007:17660027}" "" "2708_2709insC" "" "Germline" "" "" "0" "" "" "g.108621833dup" "" "pathogenic" "" "0000151632" "0" "90" "X" "107920805" "107920808" "dup" "0" "00687" "COL4A5_000654" "g.107920805_107920808dup" "" "{PMID:Tazon-Vega 2007:17660027}" "" "3869_3870insAACC" "" "Germline" "" "" "0" "" "" "g.108677575_108677578dup" "" "pathogenic" "" "0000151633" "0" "90" "X" "107938144" "107938153" "dup" "0" "00687" "COL4A5_000366" "g.107938144_107938153dup" "" "{PMID:Lemmink 1993:08406498}" "" "insTTCATGATGG" "" "Germline" "" "" "0" "" "" "g.108694914_108694923dup" "" "pathogenic" "" "0000151634" "0" "90" "X" "107935981" "107935996" "delins" "0" "00687" "COL4A5_000656" "g.107935981_107935996delinsTTTCATC" "" "{PMID:Nagel 2005:15954103}" "" "4514_4529indelTTTCATCT" "" "Germline" "" "" "0" "" "" "g.108692751_108692766delinsTTTCATC" "" "pathogenic" "" "0000151635" "0" "90" "X" "107812018" "107812026" "del" "0" "00687" "COL4A5_000657" "g.107812018_107812026del" "" "Savige (2008) Hum Genet 124; 293" "" "351delACCTCAAGG" "" "Germline" "" "" "0" "" "" "g.108568788_108568796del" "" "pathogenic" "" "0000151636" "0" "90" "X" "107845135" "107845187" "dup" "0" "00687" "COL4A5_000658" "g.107845135_107845187dup" "" "{PMID:Tazon-Vega 2007:17660027}" "" "2062_2114dup" "" "Germline" "" "" "0" "" "" "g.108601905_108601957dup" "" "pathogenic" "" "0000151637" "0" "90" "X" "107846254" "107846274" "del" "0" "00687" "COL4A5_000659" "g.107846254_107846274del" "" "King (2006) Hum Mutat 27, 1061" "" "2206delGAAGGCCCTCCTGGGCCACCC" "" "Germline" "" "" "0" "" "" "g.108603024_108603044del" "" "pathogenic" "" "0000151638" "0" "90" "X" "107858254" "107858254" "subst" "0" "00687" "COL4A5_000660" "g.107858254G>A" "" "{PMID:Tazon-Vega 2007:17660027}" "" "2509G>A" "" "Germline" "" "" "0" "" "" "g.108615024G>A" "" "pathogenic" "" "0000151639" "0" "90" "X" "107863574" "107863591" "del" "0" "00687" "COL4A5_000661" "g.107863574_107863591del" "" "{PMID:Gross 2002:12105244}" "" "" "" "Germline" "" "" "0" "" "" "g.108620344_108620361del" "" "pathogenic" "" "0000151640" "0" "90" "X" "107930743" "107930769" "del" "0" "00687" "COL4A5_000662" "g.107930743_107930769del" "" "{PMID:Tazon-Vega 2007:17660027}" "" "4325_4351del" "" "Germline" "" "" "0" "" "" "g.108687513_108687539del" "" "pathogenic" "" "0000151641" "0" "90" "X" "107816803" "107939609" "del" "0" "00687" "COL4A5_000663" "g.(107815068_107816803)_(107939609_?)inv" "" "{PMID:Hertz 2005:16133187}" "" "E9_E51 inversion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151642" "0" "90" "X" "107250000" "110555965" "" "0" "00687" "COL4A5_000000" "g.(107100000_107250000)_(110555965_110574146)del" "" "{PMID:Hoischen 2009:19444485}" "" "" "3.3Mb deletion containing COL4A6, COL4A5, FACL4, PAK3 and DCX (partial IVS5) gene" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000151643" "0" "90" "X" "107782975" "107939609" "del" "0" "00687" "COL4A5_000383" "g.(107683437_107782975)_(107939609_?)del" "" "Hertz (2008) Clin Genet 74, 522" "" "E2_E51del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151644" "0" "90" "X" "107807111" "107939609" "del" "0" "00687" "COL4A5_000666" "g.(107802384_107807111)_(107939609_?)del" "" "Ding (1994) J Am Soc Nephrol 5, 161" "" "E4_3\'UTRdel" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151645" "0" "90" "X" "107834287" "107834875" "del" "0" "00687" "COL4A5_000667" "g.(107829978_107834287)_(107834875_107838738)del" "" "{PMID:Nagel 2005:15954103}" "" "E20_E21del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151646" "0" "90" "X" "107834287" "107838832" "del" "0" "00687" "COL4A5_000668" "g.(107829978_107834287)_(107838832_107840227)del" "" "Hertz (2008) Clin Genet 74, 522" "" "E20_E22del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151647" "0" "90" "X" "107844622" "107898688" "del" "0" "00687" "COL4A5_000669" "g.(107842101_107844622)_(107898688_107908736)del" "" "Hertz (2008) Clin Genet 74, 522" "" "E26_E37del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151648" "0" "90" "X" "107863488" "107869580" "del" "0" "00687" "COL4A5_000670" "g.(107858255_107863488)_(107869580_107898560)del" "" "King (2006) Hum Mutat 27, 1061" "" "E31_E36del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151649" "0" "90" "X" "107868934" "107869580" "del" "0" "00687" "COL4A5_000671" "g.(107867565_107868934)_(107869580_107898560)del" "" "King (2006) Hum Mutat 27, 1061" "" "E35_E36del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151650" "0" "90" "X" "107898560" "107939609" "del" "0" "00687" "COL4A5_000672" "g.(107869580_107898560)_(107939609_?)del" "" "{PMID:Nozu 2008:18584212}, {PMID:Nozu 2009:19169714}" "" "E37_E53del" "Heterozygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151651" "0" "90" "X" "107908736" "107939609" "del" "0" "00687" "COL4A5_000673" "g.(107898688_107908736)_(107939609_?)del" "" "{PMID:Gross 2002:12105244}" "" "E38_E51del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151652" "0" "90" "X" "107923908" "107939609" "del" "0" "00687" "COL4A5_000674" "g.(107920864_107923908)_(107939609_?)del" "" "Tan (2009) jasavige@unimelb.edu.au" "" "E43_E51del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151653" "0" "90" "X" "107929260" "107939609" "del" "0" "00687" "COL4A5_000675" "g.(107925119_107929260)_(107939609_?)del" "" "King (2006) Hum Mutat 27, 1061" "" "E48_53del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151654" "0" "90" "X" "107930711" "107939609" "del" "0" "00687" "COL4A5_000676" "g.(107929360_107930711)_(107939609_?)del" "" "{PMID:Nagel 2005:15954103}" "" "E47_E51del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151655" "0" "90" "X" "107935977" "107939609" "del" "0" "00687" "COL4A5_000677" "g.(107930925_107935977)_(107939609_?)del" "" "Tan (2009) jasavige@unimelb.edu.au" "" "E50_E53del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151656" "0" "90" "X" "107898560" "107898688" "del" "0" "00687" "COL4A5_000678" "g.(107869580_107898560)_(107898688_107908736)del" "" "{PMID:Tazon-Vega 2007:17660027}" "" "3247-?_3373?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151657" "0" "90" "X" "107819223" "107819223" "subst" "0.299215" "00687" "COL4A5_000417" "g.107819223T>C" "" "Pan (2004) Nephrol Dial Transplant 19, 1123" "" "IVS10+21T>C" "" "Germline" "" "" "0" "" "" "g.108575993T>C" "" "pathogenic" "" "0000151658" "0" "90" "X" "107782975" "107869580" "del" "0" "00687" "COL4A5_000679" "g.(107683437_107782975)_(107869580_107898560)del" "" "Arrondel (2004) Kidney international 65, 2030" "" "E02_E36dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151659" "0" "97" "X" "107936154" "107936157" "del" "0" "00687" "COL4A5_000715" "g.107936154_107936157del" "" "{PMID:Bekheirnia 2010:20378821}" "" "4703delGTCG" "" "Germline" "" "" "0" "" "" "g.108692924_108692927del" "" "pathogenic" "" "0000151660" "0" "97" "X" "107913457" "107930925" "del" "0" "00687" "COL4A5_000716" "g.(107911735_107913457)_(107930925_107935977)del" "" "{PMID:Bekheirnia 2010:20378821}" "" "E42_E47del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151661" "0" "90" "X" "107850121" "107850121" "subst" "5.60783E-6" "00687" "COL4A5_000717" "g.107850121A>G" "" "{PMID:Bekheirnia 2010:20378821}" "" "AAA-AAG" "" "Germline" "" "" "0" "" "" "g.108606891A>G" "" "pathogenic" "" "0000151662" "0" "70" "X" "107858245" "107858245" "subst" "0" "00687" "COL4A5_000718" "g.107858245G>C" "" "{PMID:Bekheirnia 2010:20378821}" "" "aGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108615015G>C" "" "likely pathogenic" "" "0000151663" "0" "97" "X" "107925091" "107925091" "subst" "0" "00687" "COL4A5_000719" "g.107925091G>T" "" "{PMID:Bekheirnia 2010:20378821}" "" "aGGA-TGA" "" "Germline" "" "" "0" "" "" "g.108681861G>T" "" "pathogenic" "" "0000151664" "0" "70" "X" "107814643" "107814643" "subst" "0" "00687" "COL4A5_000720" "g.107814643G>C" "" "{PMID:Bekheirnia 2010:20378821}" "" "gGGA-CGA)" "" "Germline" "" "" "0" "" "" "g.108571413G>C" "" "likely pathogenic" "" "0000151665" "0" "97" "X" "107865920" "107865920" "subst" "0" "00687" "COL4A5_000721" "g.107865920C>T" "" "{PMID:Bekheirnia 2010:20378821}" "" "gCAG-TAG" "" "Germline" "" "" "0" "" "" "g.108622690C>T" "" "pathogenic" "" "0000151666" "0" "97" "X" "107811868" "107811868" "subst" "0" "00687" "COL4A5_000722" "g.107811868G>C" "" "{PMID:Bekheirnia 2010:20378821}" "" "tGGA-CGA)" "" "Germline" "" "" "0" "" "" "g.108568638G>C" "" "pathogenic" "" "0000151667" "0" "97" "X" "107898640" "107898641" "ins" "0" "00687" "COL4A5_000723" "g.107898640_107898641insT" "" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "Germline" "" "" "0" "" "" "g.108655410_108655411insT" "" "pathogenic" "" "0000151668" "0" "50" "X" "107869539" "107869539" "subst" "0" "00687" "COL4A5_000724" "g.107869539G>T" "" "{PMID:Bekheirnia 2010:20378821}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108626309G>T" "" "VUS" "" "0000151669" "0" "97" "X" "107925097" "107925097" "del" "0" "00687" "COL4A5_000645" "g.107925097del" "" "{PMID:Bekheirnia 2010:20378821}" "" "4192-4195delC" "" "Germline" "" "" "0" "" "" "g.108681867del" "" "pathogenic" "" "0000151670" "0" "97" "X" "107823943" "107823943" "del" "0" "00687" "COL4A5_000726" "g.107823943del" "" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "Germline" "" "" "0" "" "" "g.108580713del" "" "pathogenic" "" "0000151671" "0" "97" "X" "107935980" "107935980" "del" "0" "00687" "COL4A5_000727" "g.107935980del" "" "{PMID:Bekheirnia 2010:20378821}" "" "4715delA" "" "Germline" "" "" "0" "" "" "g.108692750del" "" "pathogenic" "" "0000151672" "0" "97" "X" "107865033" "107865033" "subst" "5.69797E-6" "00687" "COL4A5_000728" "g.107865033G>T" "" "{PMID:Bekheirnia 2010:20378821}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108621803G>T" "" "pathogenic" "" "0000151673" "0" "90" "X" "107821522" "107821522" "subst" "0" "00687" "COL4A5_000729" "g.107821522G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108578292G>A" "" "pathogenic" "" "0000151674" "0" "97" "X" "107911666" "107911666" "subst" "0" "00687" "COL4A5_000730" "g.107911666G>T" "" "{PMID:Bekheirnia 2010:20378821}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108668436G>T" "" "pathogenic" "" "0000151675" "0" "70" "X" "107840801" "107840801" "subst" "0" "00687" "COL4A5_000731" "g.107840801G>C" "" "{PMID:Bekheirnia 2010:20378821}" "" "IVS24+3" "" "Germline" "" "" "0" "" "" "g.108597571G>C" "" "likely pathogenic" "" "0000151676" "0" "97" "X" "107834416" "107834416" "subst" "0" "00687" "COL4A5_000732" "g.107834416G>C" "" "{PMID:Bekheirnia 2010:20378821}" "" "tGGG-CGG" "" "Germline" "" "" "0" "" "" "g.108591186G>C" "" "pathogenic" "" "0000151677" "0" "50" "X" "107898661" "107898661" "subst" "0" "00687" "COL4A5_000733" "g.107898661G>T" "" "{PMID:Bekheirnia 2010:20378821}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108655431G>T" "" "VUS" "" "0000151678" "0" "90" "X" "107911557" "107911557" "subst" "0" "00687" "COL4A5_000734" "g.107911557G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "gGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108668327G>A" "" "pathogenic" "" "0000151679" "0" "90" "X" "107910396" "107910396" "subst" "0" "00687" "COL4A5_000735" "g.107910396G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108667166G>A" "" "pathogenic" "" "0000151680" "0" "90" "X" "107782975" "107783036" "del" "0" "00687" "COL4A5_000736" "g.(107683437_107782975)_(107783036_107802293)del" "" "{PMID:Bekheirnia 2010:20378821}" "" "284?_344+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151681" "0" "90" "X" "107858221" "107858229" "del" "0" "00687" "COL4A5_000737" "g.107858221_107858229del" "" "{PMID:Bekheirnia 2010:20378821}" "" "2476delCCACCAGGG" "" "Germline" "" "" "0" "" "" "g.108614991_108614999del" "" "pathogenic" "" "0000151682" "0" "90" "X" "107938587" "107938587" "subst" "0" "00687" "COL4A5_000738" "g.107938587T>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "aTGT-AGT" "" "Germline" "" "" "0" "" "" "g.108695357T>A" "" "pathogenic" "" "0000151683" "0" "90" "X" "107814689" "107814689" "subst" "0" "00687" "COL4A5_000739" "g.107814689G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108571459G>A" "" "pathogenic" "" "0000151684" "0" "90" "X" "107863638" "107863638" "subst" "0" "00687" "COL4A5_000740" "g.107863638G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "aGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108620408G>A" "" "pathogenic" "" "0000151685" "0" "97" "X" "107863557" "107863557" "subst" "0" "00687" "COL4A5_000741" "g.107863557G>C" "" "{PMID:Bekheirnia 2010:20378821}" "" "aGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108620327G>C" "" "pathogenic" "" "0000151686" "0" "97" "X" "107865042" "107865042" "del" "0" "00687" "COL4A5_000742" "g.107865042del" "" "{PMID:Bekheirnia 2010:20378821}" "" "2686delG" "" "Germline" "" "" "0" "" "" "g.108621812del" "" "pathogenic" "" "0000151687" "0" "97" "X" "107811875" "107811875" "del" "0" "00687" "COL4A5_000294" "g.107811875del" "" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "Germline" "" "" "0" "" "" "g.108568645del" "" "pathogenic" "" "0000151688" "0" "90" "X" "107858221" "107858229" "del" "0" "00687" "COL4A5_000737" "g.107858221_107858229del" "" "{PMID:Bekheirnia 2010:20378821}" "" "2476delCCACCAGGG" "" "Germline" "" "" "0" "" "" "g.108614991_108614999del" "" "pathogenic" "" "0000151689" "0" "97" "X" "107802293" "107802384" "del" "0" "00687" "COL4A5_000744" "g.(107783036_107802293)_(107802384_107807111)del" "" "{PMID:Bekheirnia 2010:20378821}" "" "343-?_433+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151690" "0" "97" "X" "107920863" "107920863" "subst" "0" "00687" "COL4A5_000745" "g.107920863G>C" "" "{PMID:Bekheirnia 2010:20378821}" "" "p.Q1308H" "" "Germline" "" "" "0" "" "" "g.108677633G>C" "" "pathogenic" "" "0000151691" "0" "97" "X" "107850042" "107850042" "subst" "0" "00687" "COL4A5_000746" "g.107850042G>C" "" "{PMID:Bekheirnia 2010:20378821}" "" "GGT-GCT" "" "Germline" "" "" "0" "" "" "g.108606812G>C" "" "pathogenic" "" "0000151692" "0" "70" "X" "107908766" "107908781" "delins" "0" "00687" "COL4A5_000747" "g.107908766_107908781delinsCCA" "" "{PMID:Bekheirnia 2010:20378821}" "" "3403delATTAGTGGCCCTCCTGinsCCA" "" "Germline" "" "" "0" "" "" "g.108665536_108665551delinsCCA" "" "likely pathogenic" "" "0000151693" "0" "97" "X" "107823950" "107823950" "del" "0" "00687" "COL4A5_000748" "g.107823950del" "" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "Germline" "" "" "0" "" "" "g.108580720del" "" "pathogenic" "" "0000151694" "0" "90" "X" "107858221" "107858229" "del" "0" "00687" "COL4A5_000737" "g.107858221_107858229del" "" "{PMID:Bekheirnia 2010:20378821}" "" "2476delCCACCAGGG" "" "Germline" "" "" "0" "" "" "g.108614991_108614999del" "" "pathogenic" "" "0000151695" "0" "97" "X" "107814701" "107814701" "subst" "0" "00687" "COL4A5_000749" "g.107814701G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "IVS7+5" "" "Germline" "" "" "0" "" "" "g.108571471G>A" "" "pathogenic" "" "0000151696" "0" "70" "X" "107834344" "107834344" "subst" "0" "00687" "COL4A5_000750" "g.107834344A>T" "" "{PMID:Bekheirnia 2010:20378821}" "" "gAAA-TAA" "" "Germline" "" "" "0" "" "" "g.108591114A>T" "" "likely pathogenic" "" "0000151697" "0" "70" "X" "107898688" "107898688" "subst" "0" "00687" "COL4A5_000751" "g.107898688G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "IVS37+1" "" "Germline" "" "" "0" "" "" "g.108655458G>A" "" "likely pathogenic" "" "0000151698" "0" "97" "X" "107911636" "107911636" "dup" "0" "00687" "COL4A5_000752" "g.107911636dup" "" "{PMID:Bekheirnia 2010:20378821}" "" "3692_3693insC" "" "Germline" "" "" "0" "" "" "g.108668406dup" "" "pathogenic" "" "0000151699" "0" "97" "X" "107869500" "107869500" "del" "0" "00687" "COL4A5_000753" "g.107869500del" "" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "Germline" "" "" "0" "" "" "g.108626270del" "" "pathogenic" "" "0000151700" "0" "90" "X" "107840745" "107840745" "subst" "0" "00687" "COL4A5_000754" "g.107840745G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "tGGC-AGC" "" "Germline" "" "" "0" "" "" "g.108597515G>A" "" "pathogenic" "" "0000151701" "0" "97" "X" "107802293" "107802384" "del" "0" "00687" "COL4A5_000744" "g.(107783036_107802293)_(107802384_107807111)del" "" "{PMID:Bekheirnia 2010:20378821}" "" "343-?_433+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151702" "0" "70" "X" "107846292" "107846292" "subst" "0" "00687" "COL4A5_000755" "g.107846292G>T" "" "{PMID:Bekheirnia 2010:20378821}" "" "IVS28+1" "" "Germline" "" "" "0" "" "" "g.108603062G>T" "" "likely pathogenic" "" "0000151703" "0" "97" "X" "107834874" "107834874" "subst" "0" "00687" "COL4A5_000756" "g.107834874G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "aGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108591644G>A" "" "pathogenic" "" "0000151704" "0" "97" "X" "107829872" "107829872" "dup" "0" "00687" "COL4A5_000757" "g.107829872dup" "" "{PMID:Bekheirnia 2010:20378821}" "" "1060_1061insA" "" "Germline" "" "" "0" "" "" "g.108586642dup" "" "pathogenic" "" "0000151705" "0" "97" "X" "107840777" "107840788" "del" "0" "00687" "COL4A5_000758" "g.107840777_107840788del" "" "{PMID:Bekheirnia 2010:20378821}" "" "1758delTCCTGGCCCGAA" "" "Germline" "" "" "0" "" "" "g.108597547_108597558del" "" "pathogenic" "" "0000151706" "0" "70" "X" "107938006" "107938028" "delins" "0" "00687" "COL4A5_000759" "g.107938006_107938028delinsCA" "" "{PMID:Bekheirnia 2010:20378821}" "" "4891-31_9delinsca" "" "Germline" "" "" "0" "" "" "g.108694776_108694798delinsCA" "" "likely pathogenic" "" "0000151707" "0" "90" "X" "107815060" "107815060" "subst" "0" "00687" "COL4A5_000760" "g.107815060G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108571830G>A" "" "pathogenic" "" "0000151708" "0" "97" "X" "107821183" "107821184" "del" "0" "00687" "COL4A5_000761" "g.107821183_107821184del" "" "{PMID:Bekheirnia 2010:20378821}" "" "611delGC" "" "Germline" "" "" "0" "" "" "g.108577953_108577954del" "" "pathogenic" "" "0000151709" "0" "97" "X" "107834827" "107834827" "dup" "0" "00687" "COL4A5_000762" "g.107834827dup" "" "{PMID:Bekheirnia 2010:20378821}" "" "1371insC" "" "Germline" "" "" "0" "" "" "g.108591597dup" "" "pathogenic" "" "0000151710" "0" "97" "X" "107829896" "107829896" "subst" "0" "00687" "COL4A5_000763" "g.107829896G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "tGGG-AGG" "" "Germline" "" "" "0" "" "" "g.108586666G>A" "" "pathogenic" "" "0000151711" "0" "97" "X" "107840757" "107840757" "subst" "0" "00687" "COL4A5_000764" "g.107840757C>T" "" "{PMID:Bekheirnia 2010:20378821}" "" "aCAG-TAG" "" "Germline" "" "" "0" "" "" "g.108597527C>T" "" "pathogenic" "" "0000151712" "0" "97" "X" "107823952" "107823952" "del" "0" "00687" "COL4A5_000765" "g.107823952del" "" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "Germline" "" "" "0" "" "" "g.108580722del" "" "pathogenic" "" "0000151713" "0" "70" "X" "107840692" "107840692" "subst" "0" "00687" "COL4A5_000766" "g.107840692G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108597462G>A" "" "likely pathogenic" "" "0000151714" "0" "97" "X" "107816882" "107816888" "del" "0" "00687" "COL4A5_000767" "g.107816882_107816888del" "" "{PMID:Bekheirnia 2010:20378821}" "" "746_748+4del" "" "Germline" "" "" "0" "" "" "g.108573652_108573658del" "" "pathogenic" "" "0000151715" "0" "97" "X" "107863488" "107863657" "del" "0" "00687" "COL4A5_001445" "g.(107858255_107863488)_(107863657_107865032)del" "" "{PMID:Bekheirnia 2010:20378821}" "" "2712-?_2779+?" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151716" "0" "97" "X" "107834303" "107834303" "del" "0" "00687" "COL4A5_000769" "g.107834303del" "" "{PMID:Bekheirnia 2010:20378821}" "" "" "" "Germline" "" "" "0" "" "" "g.108591073del" "" "pathogenic" "" "0000151717" "0" "97" "X" "107816876" "107816876" "subst" "0" "00687" "COL4A5_000770" "g.107816876G>C" "" "{PMID:Bekheirnia 2010:20378821}" "" "tGGA-CGA" "" "Germline" "" "" "0" "" "" "g.108573646G>C" "" "pathogenic" "" "0000151718" "0" "97" "X" "107865032" "107869580" "del" "0" "00687" "COL4A5_000771" "g.(107863657_107865032)_(107869580_107898560)del" "" "{PMID:Bekheirnia 2010:20378821}" "" "E32_E36 del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151719" "0" "97" "X" "107683420" "107683432" "del" "0" "00687" "COL4A5_000772" "g.107683420_107683432del" "" "{PMID:Bekheirnia 2010:20378821}" "" "65delAGCCTGCAGAGGC" "" "Germline" "" "" "0" "" "" "g.108440190_108440202del" "" "pathogenic" "" "0000151720" "0" "77" "X" "107802293" "107863657" "del" "0" "00687" "COL4A5_000773" "g.(107783036_107802293)_(107863657_107865032)del" "" "{PMID:Bekheirnia 2010:20378821}" "" "E3_E31del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000151721" "0" "97" "X" "107821309" "107821309" "subst" "0" "00687" "COL4A5_000774" "g.107821309G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "G216E" "" "Germline" "" "" "0" "" "" "g.108578079G>A" "" "pathogenic" "" "0000151722" "0" "77" "X" "107911650" "107911666" "delins" "0" "00687" "COL4A5_000775" "g.107911650_107911666delinsTTC" "" "{PMID:Bekheirnia 2010:20378821}" "" "3706delCCCCCAGGCCCTCCTGGinsTTC" "" "Germline" "" "" "0" "" "" "g.108668420_108668436delinsTTC" "" "likely pathogenic" "" "0000151723" "0" "97" "X" "107834874" "107834874" "subst" "0" "00687" "COL4A5_000756" "g.107834874G>A" "" "{PMID:Bekheirnia 2010:20378821}" "" "aGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108591644G>A" "" "pathogenic" "" "0000151724" "0" "99" "X" "107824212" "107834875" "" "0" "00687" "COL4A5_000776" "g.(107821614_107824212)_(107834875_107838738)del" "" "{PMID:Bekheirnia 2010:20378821}" "" "del ex14/15-21" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151725" "0" "70" "X" "107865086" "107865086" "subst" "0" "00687" "COL4A5_000777" "g.107865086G>C" "" "{PMID:Bekheirnia 2010:20378821}" "" "gGGA-CGA" "" "Germline" "" "" "0" "" "" "g.108621856G>C" "" "likely pathogenic" "" "0000151726" "0" "70" "X" "107850032" "107850032" "subst" "0" "00687" "COL4A5_000778" "g.107850032G>C" "" "{PMID:Bekheirnia 2010:20378821}" "" "aGGA-CGA" "" "Germline" "" "" "0" "" "" "g.108606802G>C" "" "likely pathogenic" "" "0000151727" "0" "97" "X" "107683437" "107683437" "subst" "0" "00687" "COL4A5_000779" "g.107683437G>C" "" "{PMID:Bekheirnia 2010:20378821}" "" "IVS1+1" "" "Germline" "" "" "0" "" "" "g.108440207G>C" "" "pathogenic" "" "0000151728" "0" "10" "X" "107814732" "107814732" "subst" "0.0354399" "00687" "COL4A5_000584" "g.107814732G>T" "" "Prof Cheong Hae II" "" "IVS7+36" "" "Germline" "" "" "0" "" "" "g.108571502G>T" "" "benign" "" "0000151729" "0" "10" "X" "107815034" "107815034" "subst" "0" "00687" "COL4A5_000785" "g.107815034A>G" "" "Prof Cheong Hae II" "" "IVS7-7" "" "Germline" "" "" "0" "" "" "g.108571804A>G" "" "benign" "" "0000151730" "0" "30" "X" "107819173" "107819173" "subst" "0.0015712" "00687" "COL4A5_000786" "g.107819173A>G" "" "Prof Cheong Hae II" "" "aATT-GTT" "" "Germline" "" "" "0" "" "" "g.108575943A>G" "" "likely benign" "" "0000151731" "0" "50" "X" "107827707" "107827707" "subst" "0" "00687" "COL4A5_000787" "g.107827707T>A" "" "Prof Cheong Hae II" "" "IVS17-7" "" "Germline" "" "" "0" "" "" "g.108584477T>A" "" "VUS" "" "0000151732" "0" "10" "X" "107829835" "107829835" "subst" "0" "00687" "COL4A5_000788" "g.107829835G>A" "" "Prof Cheong Hae II" "" "IVS18-10" "" "Germline" "" "" "0" "" "" "g.108586605G>A" "" "benign" "" "0000151733" "0" "70" "X" "107840801" "107840801" "subst" "0" "00687" "COL4A5_000731" "g.107840801G>C" "" "Prof Cheong Hae II" "" "IVS24+3" "" "Germline" "" "" "0" "" "" "g.108597571G>C" "" "likely pathogenic" "" "0000151734" "0" "70" "X" "107865030" "107865030" "subst" "0" "00687" "COL4A5_000790" "g.107865030A>G" "" "Prof Cheong Hae II" "" "IVS31-3" "" "Germline" "" "" "0" "" "" "g.108621800A>G" "" "likely pathogenic" "" "0000151735" "0" "30" "X" "107869503" "107869503" "subst" "0" "00687" "COL4A5_000791" "g.107869503G>A" "" "Prof Cheong Hae II" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108626273G>A" "" "likely benign" "" "0000151736" "0" "70" "X" "107821590" "107821590" "subst" "1.12052E-5" "00687" "COL4A5_000792" "g.107821590G>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.108578360G>A" "" "likely pathogenic" "" "0000151737" "0" "70" "X" "107823768" "107823769" "ins" "0" "00687" "COL4A5_000793" "g.107823768_107823769insA" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.108580538_108580539insA" "" "likely pathogenic" "" "0000151738" "0" "30" "X" "107823938" "107823938" "subst" "6.73189E-5" "00687" "COL4A5_000794" "g.107823938G>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.108580708G>A" "" "likely benign" "" "0000151739" "0" "70" "X" "107826147" "107826147" "subst" "0" "00687" "COL4A5_000795" "g.107826147C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.108582917C>T" "" "likely pathogenic" "" "0000151740" "0" "70" "X" "107834309" "107834309" "subst" "0.000128933" "00687" "COL4A5_000796" "g.107834309C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.108591079C>T" "" "likely pathogenic" "" "0000151741" "0" "70" "X" "107840278" "107840278" "del" "0" "00687" "COL4A5_000311" "g.107840278del" "" "1000 genomes" "" "1566delA" "" "Germline" "" "" "0" "" "" "g.108597048del" "" "likely pathogenic" "" "0000151742" "0" "50" "X" "107842065" "107842065" "subst" "0" "00687" "COL4A5_000798" "g.107842065G>A" "" "1000 genomes" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108598835G>A" "" "VUS" "" "0000151743" "0" "50" "X" "107844671" "107844671" "subst" "0" "00687" "COL4A5_000799" "g.107844671G>T" "" "1000 genomes" "" "GGC-GTC" "" "Germline" "" "" "0" "" "" "g.108601441G>T" "" "VUS" "" "0000151744" "0" "70" "X" "107845135" "107845187" "dup" "0" "00687" "COL4A5_000658" "g.107845135_107845187dup" "" "1000 genomes" "" "2114_2115insCAACCAGGCTTGCCAGGGATACCTGGTAGCAAAGGAGAACCAGGTATCCCTGG" "" "Germline" "" "" "0" "" "" "g.108601905_108601957dup" "" "likely pathogenic" "" "0000151745" "0" "90" "X" "107858209" "107858209" "subst" "0" "00687" "COL4A5_000801" "g.107858209G>C" "" "1000 genomes" "" "gGGA-CGA" "" "Germline" "" "" "0" "" "" "g.108614979G>C" "" "pathogenic" "" "0000151746" "0" "90" "X" "107858254" "107858254" "subst" "0" "00687" "COL4A5_000660" "g.107858254G>A" "" "1000 genomes" "" "tGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108615024G>A" "" "pathogenic" "" "0000151748" "0" "50" "X" "107867527" "107867527" "subst" "0.000293016" "00687" "COL4A5_000804" "g.107867527T>G" "" "1000 genomes" "" "CCT-CCG" "" "Germline" "" "" "0" "" "" "g.108624297T>G" "" "VUS" "" "0000151749" "0" "50" "X" "107909790" "107909790" "subst" "0.00843378" "00687" "COL4A5_000805" "g.107909790T>G" "" "1000 genomes" "" "GGT-GGG" "" "Germline" "" "" "0" "" "" "g.108666560T>G" "" "VUS" "" "0000151750" "0" "70" "X" "107920844" "107920844" "subst" "3.36725E-5" "00687" "COL4A5_000806" "g.107920844A>G" "" "1000 genomes" "" "CAA-CGA" "" "Germline" "" "" "0" "" "" "g.108677614A>G" "" "likely pathogenic" "" "0000151751" "0" "90" "X" "107920846" "107920846" "subst" "0" "00687" "COL4A5_000807" "g.107920846G>C" "" "1000 genomes" "" "aGGA-CGA" "" "Germline" "" "" "0" "" "" "g.108677616G>C" "" "pathogenic" "" "0000151752" "0" "50" "X" "107924169" "107924169" "subst" "0" "00687" "COL4A5_000808" "g.107924169G>A" "" "1000 genomes" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108680939G>A" "" "VUS" "" "0000151753" "0" "50" "X" "107925100" "107925100" "subst" "0" "00687" "COL4A5_000809" "g.107925100G>A" "" "1000 genomes" "" "aGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108681870G>A" "" "VUS" "" "0000151754" "0" "50" "X" "107930722" "107930748" "del" "0" "00687" "COL4A5_000810" "g.107930722_107930748del" "" "1000 genomes" "" "4325_4351delGTTTGGATGGTCCCCCTGGTCCAGATG" "" "Germline" "" "" "0" "" "" "g.108687492_108687518del" "" "VUS" "" "0000151755" "0" "79" "X" "107930742" "107930742" "subst" "0" "00687" "COL4A5_000811" "g.107930742C>T" "" "1000 genomes" "" "CCA-CTA" "" "Germline" "" "" "0" "" "" "g.108687512C>T" "" "likely pathogenic" "" "0000151756" "0" "70" "X" "107929311" "107929311" "dup" "0" "00687" "COL4A5_001363" "g.107929311dup" "" "1000 genomes" "" "4451insG" "" "Germline" "" "" "0" "" "" "g.108686081dup" "" "likely pathogenic" "" "0000151757" "0" "50" "X" "107936080" "107936080" "subst" "0" "00687" "COL4A5_000813" "g.107936080G>A" "" "1000 genomes" "" "TGG-TAG" "" "Germline" "" "" "0" "" "" "g.108692850G>A" "" "VUS" "" "0000151758" "0" "50" "X" "107938080" "107938086" "del" "0" "00687" "COL4A5_000814" "g.107938080_107938086del" "" "1000 genomes" "" "4750delAGTCAGA" "" "Germline" "" "" "0" "" "" "g.108694850_108694856del" "" "VUS" "" "0000151759" "0" "97" "X" "107938134" "107938134" "subst" "0" "00687" "COL4A5_000815" "g.107938134G>A" "" "1000 genomes" "" "tGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108694904G>A" "" "pathogenic" "" "0000151760" "0" "97" "X" "107938137" "107938137" "subst" "0" "00687" "COL4A5_000816" "g.107938137T>C" "" "1000 genomes" "" "tTAT-CAT" "" "Germline" "" "" "0" "" "" "g.108694907T>C" "" "pathogenic" "" "0000151761" "0" "50" "X" "107929267" "107929267" "subst" "0.000805965" "00687" "COL4A5_000817" "g.107929267C>G" "" "NCBI" "" "ACT-AGT" "" "Germline" "" "" "0" "" "" "g.108686037C>G" "" "VUS" "" "0000151762" "0" "50" "X" "107811901" "107811901" "subst" "0.000173443" "00687" "COL4A5_000818" "g.107811901C>T" "" "NCBI" "" "tCCT-TCT" "" "Germline" "" "" "0" "" "" "g.108568671C>T" "" "VUS" "" "0000151763" "0" "50" "X" "107681392" "107681392" "subst" "0" "00687" "COL4A5_000819" "g.107681392G>C" "" "NCBI" "" "" "" "Germline" "" "" "0" "" "" "g.108438162G>C" "" "VUS" "" "0000151764" "0" "30" "X" "107823935" "107823935" "subst" "0.000129045" "00687" "COL4A5_000820" "g.107823935T>C" "" "NCBI" "" "GGT-GGC" "" "Germline" "" "" "0" "" "" "g.108580705T>C" "" "likely benign" "" "0000151765" "0" "50" "X" "107841962" "107841962" "subst" "7.84252E-5" "00687" "COL4A5_000821" "g.107841962C>A" "" "NCBI" "" "tCCC-ACC" "" "Germline" "" "" "0" "" "" "g.108598732C>A" "" "VUS" "" "0000151766" "0" "30" "X" "107850106" "107850106" "subst" "0" "00687" "COL4A5_000822" "g.107850106G>A" "" "NCBI" "" "GGG-GGA" "" "Germline" "" "" "0" "" "" "g.108606876G>A" "" "likely benign" "" "0000151767" "0" "30" "X" "107842015" "107842015" "subst" "0" "00687" "COL4A5_000823" "g.107842015T>A" "" "NCBI" "" "GGT-GGA" "" "Germline" "" "" "0" "" "" "g.108598785T>A" "" "likely benign" "" "0000151768" "0" "50" "X" "107865935" "107865935" "subst" "5.6084E-5" "00687" "COL4A5_000824" "g.107865935C>T" "" "NCBI" "" "aCTT-TTT" "" "Germline" "" "" "0" "" "" "g.108622705C>T" "" "VUS" "" "0000151769" "0" "50" "X" "107924186" "107924186" "subst" "0" "00687" "COL4A5_000825" "g.107924186G>T" "" "NCBI" "" "aGGT-TGT" "" "Germline" "" "" "0" "" "" "g.108680956G>T" "" "VUS" "" "0000151770" "0" "50" "X" "107929341" "107929341" "subst" "0" "00687" "COL4A5_000826" "g.107929341G>C" "" "NCBI" "" "aGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108686111G>C" "" "VUS" "" "0000151771" "0" "50" "X" "107929342" "107929342" "subst" "0" "00687" "COL4A5_000827" "g.107929342G>A" "" "NCBI" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108686112G>A" "" "VUS" "" "0000151772" "0" "50" "X" "107938039" "107938039" "subst" "0" "00687" "COL4A5_000828" "g.107938039G>A" "" "NCBI" "" "TGT-TAT" "" "Germline" "" "" "0" "" "" "g.108694809G>A" "" "VUS" "" "0000151773" "0" "50" "X" "107840758" "107842198" "del" "0" "00687" "COL4A5_000387" "g.107840758_107842198del" "" "NCBI" "" "" "" "Germline" "" "" "0" "" "" "g.108597528_108598968del" "" "VUS" "" "0000151774" "0" "50" "X" "107865060" "107865060" "subst" "0" "00687" "COL4A5_000830" "g.107865060G>A" "" "NCBI" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108621830G>A" "" "VUS" "" "0000151775" "0" "50" "X" "107909743" "107909743" "subst" "0" "00687" "COL4A5_000831" "g.107909743G>T" "" "NCBI" "" "tGGG-TGG" "" "Germline" "" "" "0" "" "" "g.108666513G>T" "" "VUS" "" "0000151776" "0" "50" "X" "107920844" "107920844" "subst" "3.36725E-5" "00687" "COL4A5_000806" "g.107920844A>G" "" "NCBI" "" "CAA-CGA" "" "Germline" "" "" "0" "" "" "g.108677614A>G" "" "VUS" "" "0000151777" "0" "90" "X" "107938036" "107938152" "del" "0" "00687" "COL4A5_001448" "g.(107936156_107938036)_(107938152_107938496)del" "" "NCBI" "" "4686_4717del1913" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151778" "0" "50" "X" "107819143" "107819143" "dup" "0" "00687" "COL4A5_000834" "g.107819143dup" "" "NCBI" "" "550_551insC" "" "Germline" "" "" "0" "" "" "g.108575913dup" "" "VUS" "" "0000151779" "0" "50" "X" "107842018" "107842018" "subst" "5.60595E-6" "00687" "COL4A5_000835" "g.107842018C>T" "" "NCBI" "" "CCC-CCT" "" "Germline" "" "" "0" "" "" "g.108598788C>T" "" "VUS" "" "0000151780" "0" "50" "X" "107802373" "107802373" "subst" "5.61164E-6" "00687" "COL4A5_000836" "g.107802373G>T" "" "NCBI" "" "CGG-CTG" "" "Germline" "" "" "0" "" "" "g.108559143G>T" "" "VUS" "" "0000151781" "0" "50" "X" "107858175" "107858175" "subst" "1.68133E-5" "00687" "COL4A5_000837" "g.107858175G>T" "" "NCBI" "" "ATG-ATT" "" "Germline" "" "" "0" "" "" "g.108614945G>T" "" "VUS" "" "0000151782" "0" "50" "X" "107819193" "107819193" "subst" "0" "00687" "COL4A5_000838" "g.107819193A>C" "" "NCBI" "" "CCA-CCC" "" "Germline" "" "" "0" "" "" "g.108575963A>C" "" "VUS" "" "0000151783" "0" "50" "X" "107923921" "107923921" "subst" "5.61063E-6" "00687" "COL4A5_000839" "g.107923921C>T" "" "NCBI" "" "cCGG-TGG" "" "Germline" "" "" "0" "" "" "g.108680691C>T" "" "VUS" "" "0000151784" "0" "10" "X" "107683564" "107683564" "subst" "0" "00687" "COL4A5_000840" "g.107683564T>C" "" "1000 genomes" "" "IVS1+128" "" "Germline" "" "" "0" "" "" "g.108440334T>C" "" "benign" "" "0000151785" "0" "10" "X" "107683564" "107683564" "subst" "0" "00687" "COL4A5_000840" "g.107683564T>C" "" "1000 genomes" "" "IVS1+128" "" "Germline" "" "" "0" "" "" "g.108440334T>C" "" "benign" "" "0000151786" "0" "10" "X" "107684507" "107684507" "subst" "0" "00687" "COL4A5_000841" "g.107684507A>G" "" "1000 genomes" "" "IVS1+1071" "" "Germline" "" "" "0" "" "" "g.108441277A>G" "" "benign" "" "0000151787" "0" "10" "X" "107684507" "107684507" "subst" "0" "00687" "COL4A5_000841" "g.107684507A>G" "" "1000 genomes" "" "IVS1+1071" "" "Germline" "" "" "0" "" "" "g.108441277A>G" "" "benign" "" "0000151788" "0" "10" "X" "107699068" "107699068" "subst" "0" "00687" "COL4A5_000842" "g.107699068C>G" "" "1000 genomes" "" "IVS1+15632" "" "Germline" "" "" "0" "" "" "g.108455838C>G" "" "benign" "" "0000151789" "0" "10" "X" "107699068" "107699068" "subst" "0" "00687" "COL4A5_000842" "g.107699068C>G" "" "1000 genomes" "" "IVS1+15632" "" "Germline" "" "" "0" "" "" "g.108455838C>G" "" "benign" "" "0000151790" "0" "10" "X" "107699021" "107699021" "subst" "0" "00687" "COL4A5_000843" "g.107699021G>A" "" "1000 genomes" "" "IVS1+15585" "" "Germline" "" "" "0" "" "" "g.108455791G>A" "" "benign" "" "0000151791" "0" "10" "X" "107699021" "107699021" "subst" "0" "00687" "COL4A5_000843" "g.107699021G>A" "" "1000 genomes" "" "IVS1+15585" "" "Germline" "" "" "0" "" "" "g.108455791G>A" "" "benign" "" "0000151792" "0" "10" "X" "107701008" "107701008" "subst" "0" "00687" "COL4A5_000844" "g.107701008G>T" "" "1000 genomes" "" "IVS1+17572" "" "Germline" "" "" "0" "" "" "g.108457778G>T" "" "benign" "" "0000151793" "0" "10" "X" "107702624" "107702624" "subst" "0" "00687" "COL4A5_000845" "g.107702624A>G" "" "1000 genomes" "" "IVS1+19188" "" "Germline" "" "" "0" "" "" "g.108459394A>G" "" "benign" "" "0000151794" "0" "10" "X" "107702624" "107702624" "subst" "0" "00687" "COL4A5_000845" "g.107702624A>G" "" "1000 genomes" "" "IVS1+19188" "" "Germline" "" "" "0" "" "" "g.108459394A>G" "" "benign" "" "0000151795" "0" "10" "X" "107703698" "107703698" "subst" "0" "00687" "COL4A5_000846" "g.107703698C>A" "" "1000 genomes" "" "IVS-+20262" "" "Germline" "" "" "0" "" "" "g.108460468C>A" "" "benign" "" "0000151796" "0" "10" "X" "107703698" "107703698" "subst" "0" "00687" "COL4A5_000846" "g.107703698C>A" "" "1000 genomes" "" "IVS-+20262" "" "Germline" "" "" "0" "" "" "g.108460468C>A" "" "benign" "" "0000151797" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "" "1000 genomes" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000151798" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "" "1000 genomes" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000151799" "0" "10" "X" "107705974" "107705974" "" "0" "00687" "COL4A5_000848" "g.107705974A>B" "" "1000 genomes" "" "IVS1+22538" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000151800" "0" "10" "X" "107705974" "107705974" "" "0" "00687" "COL4A5_000848" "g.107705974A>B" "" "1000 genomes" "" "IVS1+22538" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000151801" "0" "10" "X" "107706848" "107706848" "subst" "0" "00687" "COL4A5_000849" "g.107706848C>A" "" "1000 genomes" "" "IVS1+23412" "" "Germline" "" "" "0" "" "" "g.108463618C>A" "" "benign" "" "0000151802" "0" "10" "X" "107706848" "107706848" "subst" "0" "00687" "COL4A5_000849" "g.107706848C>A" "" "1000 genomes" "" "IVS1+23412" "" "Germline" "" "" "0" "" "" "g.108463618C>A" "" "benign" "" "0000151803" "0" "10" "X" "107706848" "107706848" "subst" "0" "00687" "COL4A5_000849" "g.107706848C>A" "" "1000 genomes" "" "IVS1+23412" "" "Germline" "" "" "0" "" "" "g.108463618C>A" "" "benign" "" "0000151804" "0" "10" "X" "107711906" "107711906" "subst" "0" "00687" "COL4A5_000850" "g.107711906G>A" "" "1000 genomes" "" "IVS1+28470" "" "Germline" "" "" "0" "" "" "g.108468676G>A" "" "benign" "" "0000151805" "0" "10" "X" "107711906" "107711906" "subst" "0" "00687" "COL4A5_000850" "g.107711906G>A" "" "1000 genomes" "" "IVS1+28470" "" "Germline" "" "" "0" "" "" "g.108468676G>A" "" "benign" "" "0000151806" "0" "10" "X" "107711906" "107711906" "subst" "0" "00687" "COL4A5_000850" "g.107711906G>A" "" "1000 genomes" "" "IVS1+28470" "" "Germline" "" "" "0" "" "" "g.108468676G>A" "" "benign" "" "0000151807" "0" "10" "X" "107713946" "107713946" "subst" "0" "00687" "COL4A5_000851" "g.107713946C>A" "" "1000 genomes" "" "IVS1+30510" "" "Germline" "" "" "0" "" "" "g.108470716C>A" "" "benign" "" "0000151808" "0" "10" "X" "107713946" "107713946" "subst" "0" "00687" "COL4A5_000851" "g.107713946C>A" "" "1000 genomes" "" "IVS1+30510" "" "Germline" "" "" "0" "" "" "g.108470716C>A" "" "benign" "" "0000151809" "0" "10" "X" "107715146" "107715146" "subst" "0" "00687" "COL4A5_000852" "g.107715146G>T" "" "1000 genomes" "" "IVS-+31710" "" "Germline" "" "" "0" "" "" "g.108471916G>T" "" "benign" "" "0000151810" "0" "10" "X" "107715146" "107715146" "subst" "0" "00687" "COL4A5_000852" "g.107715146G>T" "" "1000 genomes" "" "IVS-+31710" "" "Germline" "" "" "0" "" "" "g.108471916G>T" "" "benign" "" "0000151811" "0" "10" "X" "107715484" "107715484" "subst" "0" "00687" "COL4A5_000853" "g.107715484G>T" "" "1000 genomes" "" "IVS1+32048" "" "Germline" "" "" "0" "" "" "g.108472254G>T" "" "benign" "" "0000151812" "0" "10" "X" "107715484" "107715484" "subst" "0" "00687" "COL4A5_000853" "g.107715484G>T" "" "1000 genomes" "" "IVS1+32048" "" "Germline" "" "" "0" "" "" "g.108472254G>T" "" "benign" "" "0000151813" "0" "10" "X" "107715484" "107715484" "subst" "0" "00687" "COL4A5_000853" "g.107715484G>T" "" "1000 genomes" "" "IVS1+32048" "" "Germline" "" "" "0" "" "" "g.108472254G>T" "" "benign" "" "0000151814" "0" "10" "X" "107686645" "107686645" "subst" "0" "00687" "COL4A5_000854" "g.107686645A>T" "" "1000 genomes" "" "IVS1+3209" "" "Germline" "" "" "0" "" "" "g.108443415A>T" "" "benign" "" "0000151815" "0" "10" "X" "107686645" "107686645" "subst" "0" "00687" "COL4A5_000854" "g.107686645A>T" "" "1000 genomes" "" "IVS1+3209" "" "Germline" "" "" "0" "" "" "g.108443415A>T" "" "benign" "" "0000151816" "0" "10" "X" "107728839" "107728839" "subst" "0" "00687" "COL4A5_000855" "g.107728839A>G" "" "1000 genomes" "" "IVS1+45403" "" "Germline" "" "" "0" "" "" "g.108485609A>G" "" "benign" "" "0000151817" "0" "10" "X" "107728839" "107728839" "subst" "0" "00687" "COL4A5_000855" "g.107728839A>G" "" "1000 genomes" "" "IVS1+45403" "" "Germline" "" "" "0" "" "" "g.108485609A>G" "" "benign" "" "0000151818" "0" "10" "X" "107733160" "107733160" "subst" "0" "00687" "COL4A5_000856" "g.107733160T>C" "" "1000 genomes" "" "IVS1+49724" "" "Germline" "" "" "0" "" "" "g.108489930T>C" "" "benign" "" "0000151819" "0" "10" "X" "107733160" "107733160" "subst" "0" "00687" "COL4A5_000856" "g.107733160T>C" "" "1000 genomes" "" "IVS1+49724" "" "Germline" "" "" "0" "" "" "g.108489930T>C" "" "benign" "" "0000151820" "0" "10" "X" "107688565" "107688565" "subst" "0" "00687" "COL4A5_000857" "g.107688565T>C" "" "1000 genomes" "" "IVS1+5129" "" "Germline" "" "" "0" "" "" "g.108445335T>C" "" "benign" "" "0000151821" "0" "10" "X" "107688565" "107688565" "subst" "0" "00687" "COL4A5_000857" "g.107688565T>C" "" "1000 genomes" "" "IVS1+5129" "" "Germline" "" "" "0" "" "" "g.108445335T>C" "" "benign" "" "0000151822" "0" "10" "X" "107690120" "107690120" "subst" "0" "00687" "COL4A5_000858" "g.107690120A>G" "" "1000 genomes" "" "IVS1+6684" "" "Germline" "" "" "0" "" "" "g.108446890A>G" "" "benign" "" "0000151823" "0" "10" "X" "107690120" "107690120" "subst" "0" "00687" "COL4A5_000858" "g.107690120A>G" "" "1000 genomes" "" "IVS1+6684" "" "Germline" "" "" "0" "" "" "g.108446890A>G" "" "benign" "" "0000151824" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "" "1000 genomes" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000151825" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "" "1000 genomes" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000151826" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "" "1000 genomes" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000151827" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "" "Hapmap" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000151828" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "" "Hapmap" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000151829" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "" "Hapmap" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000151830" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "1" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000151831" "0" "10" "X" "107695617" "107695617" "subst" "0" "00687" "COL4A5_000911" "g.107695617T>C" "1" "Hapmap/ NCBI" "" "IVS1+12181T>C" "" "Germline" "" "" "0" "" "" "g.108452387T>C" "" "benign" "" "0000151832" "0" "10" "X" "107724364" "107724364" "subst" "0" "00687" "COL4A5_000918" "g.107724364T>C" "1" "Hapmap/NCBI" "" "IVS1+40928" "" "Germline" "" "" "0" "" "" "g.108481134T>C" "" "benign" "" "0000151833" "0" "10" "X" "107695617" "107695617" "subst" "0" "00687" "COL4A5_000911" "g.107695617T>C" "1" "Hapmap/ NCBI" "" "IVS1+12181T>C" "" "Germline" "" "" "0" "" "" "g.108452387T>C" "" "benign" "" "0000151834" "0" "10" "X" "107750988" "107750988" "subst" "0" "00687" "COL4A5_000923" "g.107750988A>G" "0.5" "Hapmap/NCBI" "" "82-31988A>G" "" "Germline" "" "" "0" "" "" "g.108507758A>G" "" "benign" "" "0000151835" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "1" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000151836" "0" "10" "X" "107696028" "107696028" "subst" "0" "00687" "COL4A5_000915" "g.107696028G>C" "" "Hapmap/NCBI" "" "IVS1+12592" "" "Germline" "" "" "0" "" "" "g.108452798G>C" "" "benign" "" "0000151837" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "1" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000151838" "0" "10" "X" "107757439" "107757439" "subst" "0" "00687" "COL4A5_000874" "g.107757439C>G" "0.233" "HapMap/NCBI" "" "IVS1-25537" "" "Germline" "" "" "0" "" "" "g.108514209C>G" "" "benign" "" "0000151839" "0" "10" "X" "107757439" "107757439" "subst" "0" "00687" "COL4A5_000874" "g.107757439C>G" "0.589" "HapMap/NCBI" "" "IVS1-25537" "" "Germline" "" "" "0" "" "" "g.108514209C>G" "" "benign" "" "0000151840" "0" "10" "X" "107757439" "107757439" "subst" "0" "00687" "COL4A5_000874" "g.107757439C>G" "0.682" "HapMap/NCBI" "" "IVS1-25537" "" "Germline" "" "" "0" "" "" "g.108514209C>G" "" "benign" "" "0000151841" "0" "10" "X" "107757439" "107757439" "subst" "0" "00687" "COL4A5_000874" "g.107757439C>G" "0.258" "HapMap/NCBI" "" "IVS1-25537" "" "Germline" "" "" "0" "" "" "g.108514209C>G" "" "benign" "" "0000151842" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.5" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000151843" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.245" "Hapmap/NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000151844" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.646" "Hapmap/ NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000151845" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.588" "Hapmap/NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000151846" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.43" "Hapmap/ NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000151847" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.261" "Hapmap/NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000151848" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.58" "Hapmap/ NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000151849" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.246" "Hapmap/NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000151850" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.222" "Hapmap/ NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000151851" "0" "10" "X" "107692755" "107692755" "subst" "0" "00687" "COL4A5_000860" "g.107692755G>A" "" "1000 genomes" "" "IVS1+9319" "" "Germline" "" "" "0" "" "" "g.108449525G>A" "" "benign" "" "0000151852" "0" "10" "X" "107692755" "107692755" "subst" "0" "00687" "COL4A5_000860" "g.107692755G>A" "" "1000 genomes" "" "IVS1+9319" "" "Germline" "" "" "0" "" "" "g.108449525G>A" "" "benign" "" "0000151853" "0" "10" "X" "107734511" "107734511" "subst" "0" "00687" "COL4A5_000861" "g.107734511C>G" "" "1000 genomes" "" "IVS1-48465" "" "Germline" "" "" "0" "" "" "g.108491281C>G" "" "benign" "" "0000151854" "0" "10" "X" "107734511" "107734511" "subst" "0" "00687" "COL4A5_000861" "g.107734511C>G" "" "1000 genomes" "" "IVS1-48465" "" "Germline" "" "" "0" "" "" "g.108491281C>G" "" "benign" "" "0000151855" "0" "10" "X" "107734573" "107734573" "subst" "0" "00687" "COL4A5_000862" "g.107734573A>G" "" "1000 genomes" "" "IVS1-48403" "" "Germline" "" "" "0" "" "" "g.108491343A>G" "" "benign" "" "0000151856" "0" "10" "X" "107734573" "107734573" "subst" "0" "00687" "COL4A5_000862" "g.107734573A>G" "" "1000 genomes" "" "IVS1-48403" "" "Germline" "" "" "0" "" "" "g.108491343A>G" "" "benign" "" "0000151857" "0" "10" "X" "107737731" "107737731" "subst" "0" "00687" "COL4A5_000863" "g.107737731A>G" "" "1000 genomes" "" "IVS1-45245" "" "Germline" "" "" "0" "" "" "g.108494501A>G" "" "benign" "" "0000151858" "0" "10" "X" "107737731" "107737731" "subst" "0" "00687" "COL4A5_000863" "g.107737731A>G" "" "1000 genomes" "" "IVS1-45245" "" "Germline" "" "" "0" "" "" "g.108494501A>G" "" "benign" "" "0000151859" "0" "10" "X" "107738231" "107738231" "subst" "0" "00687" "COL4A5_000864" "g.107738231G>A" "" "1000 genomes" "" "IVS1-44745" "" "Germline" "" "" "0" "" "" "g.108495001G>A" "" "benign" "" "0000151860" "0" "10" "X" "107738231" "107738231" "subst" "0" "00687" "COL4A5_000864" "g.107738231G>A" "" "1000 genomes" "" "IVS1-44745" "" "Germline" "" "" "0" "" "" "g.108495001G>A" "" "benign" "" "0000151861" "0" "10" "X" "107738231" "107738231" "subst" "0" "00687" "COL4A5_000864" "g.107738231G>A" "" "1000 genomes" "" "IVS1-44745" "" "Germline" "" "" "0" "" "" "g.108495001G>A" "" "benign" "" "0000151862" "0" "10" "X" "107739547" "107739547" "subst" "0" "00687" "COL4A5_000865" "g.107739547A>G" "" "1000 genomes" "" "IVS1-43429" "" "Germline" "" "" "0" "" "" "g.108496317A>G" "" "benign" "" "0000151863" "0" "10" "X" "107739547" "107739547" "subst" "0" "00687" "COL4A5_000865" "g.107739547A>G" "" "1000 genomes" "" "IVS1-43429" "" "Germline" "" "" "0" "" "" "g.108496317A>G" "" "benign" "" "0000151864" "0" "10" "X" "107742985" "107742985" "subst" "0" "00687" "COL4A5_000866" "g.107742985C>T" "" "1000 genomes" "" "IVS1-39991" "" "Germline" "" "" "0" "" "" "g.108499755C>T" "" "benign" "" "0000151865" "0" "10" "X" "107742985" "107742985" "subst" "0" "00687" "COL4A5_000866" "g.107742985C>T" "" "1000 genomes" "" "IVS1-39991" "" "Germline" "" "" "0" "" "" "g.108499755C>T" "" "benign" "" "0000151866" "0" "10" "X" "107742985" "107742985" "subst" "0" "00687" "COL4A5_000866" "g.107742985C>T" "" "1000 genomes" "" "IVS1-39991" "" "Germline" "" "" "0" "" "" "g.108499755C>T" "" "benign" "" "0000151867" "0" "10" "X" "107744335" "107744335" "subst" "0" "00687" "COL4A5_000867" "g.107744335G>T" "" "1000 genomes" "" "IVS1-38641" "" "Germline" "" "" "0" "" "" "g.108501105G>T" "" "benign" "" "0000151868" "0" "10" "X" "107744335" "107744335" "subst" "0" "00687" "COL4A5_000867" "g.107744335G>T" "" "1000 genomes" "" "IVS1-38641" "" "Germline" "" "" "0" "" "" "g.108501105G>T" "" "benign" "" "0000151869" "0" "10" "X" "107745038" "107745038" "subst" "0" "00687" "COL4A5_000868" "g.107745038T>C" "" "1000 genomes" "" "IVS1-37938" "" "Germline" "" "" "0" "" "" "g.108501808T>C" "" "benign" "" "0000151870" "0" "10" "X" "107745038" "107745038" "subst" "0" "00687" "COL4A5_000868" "g.107745038T>C" "" "1000 genomes" "" "IVS1-37938" "" "Germline" "" "" "0" "" "" "g.108501808T>C" "" "benign" "" "0000151871" "0" "10" "X" "107746431" "107746431" "subst" "0" "00687" "COL4A5_000869" "g.107746431G>T" "" "1000 genomes" "" "IVS1-36545" "" "Germline" "" "" "0" "" "" "g.108503201G>T" "" "benign" "" "0000151872" "0" "10" "X" "107746431" "107746431" "subst" "0" "00687" "COL4A5_000869" "g.107746431G>T" "" "1000 genomes" "" "IVS1-36545" "" "Germline" "" "" "0" "" "" "g.108503201G>T" "" "benign" "" "0000151873" "0" "10" "X" "107748517" "107748517" "subst" "0" "00687" "COL4A5_000870" "g.107748517A>G" "" "1000 genomes" "" "IVS1-34459" "" "Germline" "" "" "0" "" "" "g.108505287A>G" "" "benign" "" "0000151874" "0" "10" "X" "107748517" "107748517" "subst" "0" "00687" "COL4A5_000870" "g.107748517A>G" "" "1000 genomes" "" "IVS1-34459" "" "Germline" "" "" "0" "" "" "g.108505287A>G" "" "benign" "" "0000151875" "0" "10" "X" "107748517" "107748517" "subst" "0" "00687" "COL4A5_000870" "g.107748517A>G" "" "1000 genomes" "" "IVS1-34459" "" "Germline" "" "" "0" "" "" "g.108505287A>G" "" "benign" "" "0000151876" "0" "10" "X" "107751441" "107751441" "subst" "0" "00687" "COL4A5_000871" "g.107751441C>T" "" "1000 genomes" "" "IVS1-31535" "" "Germline" "" "" "0" "" "" "g.108508211C>T" "" "benign" "" "0000151877" "0" "10" "X" "107751441" "107751441" "subst" "0" "00687" "COL4A5_000871" "g.107751441C>T" "" "1000 genomes" "" "IVS1-31535" "" "Germline" "" "" "0" "" "" "g.108508211C>T" "" "benign" "" "0000151878" "0" "10" "X" "107752576" "107752576" "subst" "0" "00687" "COL4A5_000872" "g.107752576C>T" "" "1000 genomes" "" "IVS1-30400" "" "Germline" "" "" "0" "" "" "g.108509346C>T" "" "benign" "" "0000151879" "0" "10" "X" "107752576" "107752576" "subst" "0" "00687" "COL4A5_000872" "g.107752576C>T" "" "1000 genomes" "" "IVS1-30400" "" "Germline" "" "" "0" "" "" "g.108509346C>T" "" "benign" "" "0000151880" "0" "10" "X" "107754651" "107754651" "subst" "0" "00687" "COL4A5_000873" "g.107754651T>C" "" "1000 genomes" "" "IVS1-28325" "" "Germline" "" "" "0" "" "" "g.108511421T>C" "" "benign" "" "0000151881" "0" "10" "X" "107754651" "107754651" "subst" "0" "00687" "COL4A5_000873" "g.107754651T>C" "" "1000 genomes" "" "IVS1-28325" "" "Germline" "" "" "0" "" "" "g.108511421T>C" "" "benign" "" "0000151882" "0" "10" "X" "107757439" "107757439" "subst" "0" "00687" "COL4A5_000874" "g.107757439C>G" "" "1000 genomes" "" "IVS1-25537" "" "Germline" "" "" "0" "" "" "g.108514209C>G" "" "benign" "" "0000151883" "0" "10" "X" "107757439" "107757439" "subst" "0" "00687" "COL4A5_000874" "g.107757439C>G" "" "1000 genomes" "" "IVS1-25537" "" "Germline" "" "" "0" "" "" "g.108514209C>G" "" "benign" "" "0000151884" "0" "10" "X" "107757439" "107757439" "subst" "0" "00687" "COL4A5_000874" "g.107757439C>G" "" "1000 genomes" "" "IVS1-28837" "" "Germline" "" "" "0" "" "" "g.108514209C>G" "" "benign" "" "0000151885" "0" "10" "X" "107757439" "107757439" "subst" "0" "00687" "COL4A5_000874" "g.107757439C>G" "" "Hapmap" "" "IVS1-25537" "" "Germline" "" "" "0" "" "" "g.108514209C>G" "" "benign" "" "0000151886" "0" "10" "X" "107757439" "107757439" "subst" "0" "00687" "COL4A5_000874" "g.107757439C>G" "" "Hapmap" "" "IVS1-25537" "" "Germline" "" "" "0" "" "" "g.108514209C>G" "" "benign" "" "0000151887" "0" "10" "X" "107757439" "107757439" "subst" "0" "00687" "COL4A5_000874" "g.107757439C>G" "" "Hapmap" "" "IVS1-25537" "" "Germline" "" "" "0" "" "" "g.108514209C>G" "" "benign" "" "0000151888" "0" "10" "X" "107750988" "107750988" "subst" "0" "00687" "COL4A5_000923" "g.107750988A>G" "1" "Hapmap/ NCBI" "" "82-31988A>G" "" "Germline" "" "" "0" "" "" "g.108507758A>G" "" "benign" "" "0000151889" "0" "10" "X" "107760131" "107760131" "subst" "0" "00687" "COL4A5_000875" "g.107760131G>A" "" "1000 genomes" "" "IVS1-22845" "" "Germline" "" "" "0" "" "" "g.108516901G>A" "" "benign" "" "0000151890" "0" "10" "X" "107760131" "107760131" "subst" "0" "00687" "COL4A5_000875" "g.107760131G>A" "" "1000 genomes" "" "IVS1-22845" "" "Germline" "" "" "0" "" "" "g.108516901G>A" "" "benign" "" "0000151891" "0" "10" "X" "107760131" "107760131" "subst" "0" "00687" "COL4A5_000875" "g.107760131G>A" "" "1000 genomes" "" "IVS1-22845" "" "Germline" "" "" "0" "" "" "g.108516901G>A" "" "benign" "" "0000151892" "0" "10" "X" "107762106" "107762106" "subst" "0" "00687" "COL4A5_000876" "g.107762106G>A" "" "1000 genomes" "" "IVS1-20870" "" "Germline" "" "" "0" "" "" "g.108518876G>A" "" "benign" "" "0000151893" "0" "10" "X" "107762106" "107762106" "subst" "0" "00687" "COL4A5_000876" "g.107762106G>A" "" "1000 genomes" "" "IVS1-20870" "" "Germline" "" "" "0" "" "" "g.108518876G>A" "" "benign" "" "0000151894" "0" "10" "X" "107762106" "107762106" "subst" "0" "00687" "COL4A5_000876" "g.107762106G>A" "" "1000 genomes" "" "IVS1-20870" "" "Germline" "" "" "0" "" "" "g.108518876G>A" "" "benign" "" "0000151895" "0" "10" "X" "107770683" "107770683" "subst" "0" "00687" "COL4A5_000877" "g.107770683A>G" "" "1000 genomes" "" "IVS1-12293" "" "Germline" "" "" "0" "" "" "g.108527453A>G" "" "benign" "" "0000151896" "0" "10" "X" "107770683" "107770683" "subst" "0" "00687" "COL4A5_000877" "g.107770683A>G" "" "1000 genomes" "" "IVS1-12293" "" "Germline" "" "" "0" "" "" "g.108527453A>G" "" "benign" "" "0000151897" "0" "10" "X" "107781697" "107781697" "subst" "0" "00687" "COL4A5_000878" "g.107781697A>G" "" "1000 genomes" "" "IVS1-1279" "" "Germline" "" "" "0" "" "" "g.108538467A>G" "" "benign" "" "0000151898" "0" "10" "X" "107781697" "107781697" "subst" "0" "00687" "COL4A5_000878" "g.107781697A>G" "" "1000 genomes" "" "IVS1-1279" "" "Germline" "" "" "0" "" "" "g.108538467A>G" "" "benign" "" "0000151899" "0" "10" "X" "107782764" "107782764" "subst" "0" "00687" "COL4A5_000879" "g.107782764C>T" "" "1000 genomes" "" "IVS1-212" "" "Germline" "" "" "0" "" "" "g.108539534C>T" "" "benign" "" "0000151900" "0" "10" "X" "107798614" "107798614" "subst" "0" "00687" "COL4A5_000880" "g.107798614T>G" "" "1000 genomes" "" "IVS2-3680" "" "Germline" "" "" "0" "" "" "g.108555384T>G" "" "benign" "" "0000151901" "0" "10" "X" "107798614" "107798614" "subst" "0" "00687" "COL4A5_000880" "g.107798614T>G" "" "1000 genomes" "" "IVS2-3680" "" "Germline" "" "" "0" "" "" "g.108555384T>G" "" "benign" "" "0000151902" "0" "10" "X" "107800287" "107800287" "subst" "0" "00687" "COL4A5_000881" "g.107800287C>T" "" "1000 genomes" "" "IVS2-2007" "" "Germline" "" "" "0" "" "" "g.108557057C>T" "" "benign" "" "0000151903" "0" "10" "X" "107800287" "107800287" "subst" "0" "00687" "COL4A5_000881" "g.107800287C>T" "" "1000 genomes" "" "IVS2-2007" "" "Germline" "" "" "0" "" "" "g.108557057C>T" "" "benign" "" "0000151904" "0" "10" "X" "107800919" "107800919" "subst" "0" "00687" "COL4A5_000882" "g.107800919C>T" "" "1000 genomes" "" "IVS2-1375" "" "Germline" "" "" "0" "" "" "g.108557689C>T" "" "benign" "" "0000151905" "0" "10" "X" "107800919" "107800919" "subst" "0" "00687" "COL4A5_000882" "g.107800919C>T" "" "1000 genomes" "" "IVS2-1375" "" "Germline" "" "" "0" "" "" "g.108557689C>T" "" "benign" "" "0000151906" "0" "10" "X" "107804808" "107804808" "subst" "0" "00687" "COL4A5_000883" "g.107804808A>G" "" "1000 genomes" "" "IVS3-2304" "" "Germline" "" "" "0" "" "" "g.108561578A>G" "" "benign" "" "0000151907" "0" "10" "X" "107804808" "107804808" "subst" "0" "00687" "COL4A5_000883" "g.107804808A>G" "" "1000 genomes" "" "IVS3-2304" "" "Germline" "" "" "0" "" "" "g.108561578A>G" "" "benign" "" "0000151908" "0" "10" "X" "107807954" "107807954" "subst" "0" "00687" "COL4A5_000884" "g.107807954T>G" "" "1000 genomes" "" "IVS4+798" "" "Germline" "" "" "0" "" "" "g.108564724T>G" "" "benign" "" "0000151909" "0" "10" "X" "107807954" "107807954" "subst" "0" "00687" "COL4A5_000884" "g.107807954T>G" "" "1000 genomes" "" "IVS4+798" "" "Germline" "" "" "0" "" "" "g.108564724T>G" "" "benign" "" "0000151910" "0" "10" "X" "107821140" "107821140" "subst" "6.49234E-5" "00687" "COL4A5_000885" "g.107821140T>C" "" "1000 genomes" "" "IVS10-42" "" "Germline" "" "" "0" "" "" "g.108577910T>C" "" "benign" "" "0000151911" "0" "10" "X" "107824005" "107824005" "subst" "0.0437673" "00687" "COL4A5_000886" "g.107824005A>G" "" "1000 genomes" "" "IVS15+37" "" "Germline" "" "" "0" "" "" "g.108580775A>G" "" "benign" "" "0000151912" "0" "10" "X" "107824005" "107824005" "subst" "0.0437673" "00687" "COL4A5_000886" "g.107824005A>G" "" "1000 genomes" "" "IVS15+37" "" "Germline" "" "" "0" "" "" "g.108580775A>G" "" "benign" "" "0000151913" "0" "10" "X" "107824005" "107824005" "subst" "0.0437673" "00687" "COL4A5_000886" "g.107824005A>G" "" "1000 genomes" "" "IVS15+37" "" "Germline" "" "" "0" "" "" "g.108580775A>G" "" "benign" "" "0000151914" "0" "10" "X" "107826539" "107826539" "subst" "0" "00687" "COL4A5_000887" "g.107826539A>G" "" "1000 genomes" "" "IVS17+372" "" "Germline" "" "" "0" "" "" "g.108583309A>G" "" "benign" "" "0000151915" "0" "10" "X" "107826539" "107826539" "subst" "0" "00687" "COL4A5_000887" "g.107826539A>G" "" "1000 genomes" "" "IVS17+372" "" "Germline" "" "" "0" "" "" "g.108583309A>G" "" "benign" "" "0000151916" "0" "10" "X" "107826539" "107826539" "subst" "0" "00687" "COL4A5_000887" "g.107826539A>G" "" "1000 genomes" "" "IVS17+372" "" "Germline" "" "" "0" "" "" "g.108583309A>G" "" "benign" "" "0000151917" "0" "10" "X" "107827231" "107827231" "subst" "0" "00687" "COL4A5_000888" "g.107827231G>A" "" "1000 genomes" "" "IVS17-483" "" "Germline" "" "" "0" "" "" "g.108584001G>A" "" "benign" "" "0000151918" "0" "10" "X" "107827231" "107827231" "subst" "0" "00687" "COL4A5_000888" "g.107827231G>A" "" "1000 genomes" "" "IVS17-483" "" "Germline" "" "" "0" "" "" "g.108584001G>A" "" "benign" "" "0000151919" "0" "10" "X" "107828833" "107828833" "subst" "0" "00687" "COL4A5_000889" "g.107828833A>T" "" "1000 genomes" "" "IVS18-1012" "" "Germline" "" "" "0" "" "" "g.108585603A>T" "" "benign" "" "0000151920" "0" "10" "X" "107828833" "107828833" "subst" "0" "00687" "COL4A5_000889" "g.107828833A>T" "" "1000 genomes" "" "IVS18-1012" "" "Germline" "" "" "0" "" "" "g.108585603A>T" "" "benign" "" "0000151921" "0" "10" "X" "107828833" "107828833" "subst" "0" "00687" "COL4A5_000889" "g.107828833A>T" "" "1000 genomes" "" "IVS18-1012" "" "Germline" "" "" "0" "" "" "g.108585603A>T" "" "benign" "" "0000151922" "0" "10" "X" "107829773" "107829773" "subst" "0" "00687" "COL4A5_000890" "g.107829773C>T" "" "1000 genomes" "" "IVS18-72" "" "Germline" "" "" "0" "" "" "g.108586543C>T" "" "benign" "" "0000151923" "0" "10" "X" "107840559" "107840559" "subst" "0" "00687" "COL4A5_000891" "g.107840559C>T" "" "1000 genomes" "" "IVS23-48" "" "Germline" "" "" "0" "" "" "g.108597329C>T" "" "benign" "" "0000151924" "0" "10" "X" "107841685" "107841685" "subst" "0" "00687" "COL4A5_000892" "g.107841685G>A" "" "1000 genomes" "" "IVS24-247" "" "Germline" "" "" "0" "" "" "g.108598455G>A" "" "benign" "" "0000151925" "0" "10" "X" "107841685" "107841685" "subst" "0" "00687" "COL4A5_000892" "g.107841685G>A" "" "1000 genomes" "" "IVS24-247" "" "Germline" "" "" "0" "" "" "g.108598455G>A" "" "benign" "" "0000151926" "0" "10" "X" "107849336" "107849336" "subst" "0" "00687" "COL4A5_000893" "g.107849336C>T" "" "1000 genomes" "" "IVS28-636" "" "Germline" "" "" "0" "" "" "g.108606106C>T" "" "benign" "" "0000151927" "0" "10" "X" "107849336" "107849336" "subst" "0" "00687" "COL4A5_000893" "g.107849336C>T" "" "1000 genomes" "" "IVS28-636" "" "Germline" "" "" "0" "" "" "g.108606106C>T" "" "benign" "" "0000151928" "0" "10" "X" "107849336" "107849336" "subst" "0" "00687" "COL4A5_000893" "g.107849336C>T" "" "1000 genomes" "" "IVS28-636" "" "Germline" "" "" "0" "" "" "g.108606106C>T" "" "benign" "" "0000151929" "0" "10" "X" "107851682" "107851682" "subst" "0" "00687" "COL4A5_000894" "g.107851682C>G" "" "1000 genomes" "" "IVS29+1560" "" "Germline" "" "" "0" "" "" "g.108608452C>G" "" "benign" "" "0000151930" "0" "10" "X" "107851682" "107851682" "subst" "0" "00687" "COL4A5_000894" "g.107851682C>G" "" "1000 genomes" "" "IVS29+1560" "" "Germline" "" "" "0" "" "" "g.108608452C>G" "" "benign" "" "0000151931" "0" "10" "X" "107858304" "107858304" "subst" "0.0454885" "00687" "COL4A5_000895" "g.107858304T>G" "" "1000 genomes" "" "IVS30+50" "" "Germline" "" "" "0" "" "" "g.108615074T>G" "" "benign" "" "0000151932" "0" "10" "X" "107858304" "107858304" "subst" "0.0454885" "00687" "COL4A5_000895" "g.107858304T>G" "" "1000 genomes" "" "IVS30+50" "" "Germline" "" "" "0" "" "" "g.108615074T>G" "" "benign" "" "0000151933" "0" "10" "X" "107858304" "107858304" "subst" "0.0454885" "00687" "COL4A5_000895" "g.107858304T>G" "" "1000 genomes" "" "IVS30+50" "" "Germline" "" "" "0" "" "" "g.108615074T>G" "" "benign" "" "0000151934" "0" "10" "X" "107862380" "107862380" "subst" "0" "00687" "COL4A5_000896" "g.107862380C>T" "" "1000 genomes" "" "IVS30-1109" "" "Germline" "" "" "0" "" "" "g.108619150C>T" "" "benign" "" "0000151935" "0" "10" "X" "107862380" "107862380" "subst" "0" "00687" "COL4A5_000896" "g.107862380C>T" "" "1000 genomes" "" "IVS30-1109" "" "Germline" "" "" "0" "" "" "g.108619150C>T" "" "benign" "" "0000151936" "0" "10" "X" "107865895" "107865895" "subst" "0" "00687" "COL4A5_000897" "g.107865895A>C" "" "1000 genomes" "" "IVS32-11" "" "Germline" "" "" "0" "" "" "g.108622665A>C" "" "benign" "" "0000151937" "0" "10" "X" "107865895" "107865895" "subst" "0" "00687" "COL4A5_000898" "g.107865895A>T" "" "1000 genomes" "" "IVS32-11" "" "Germline" "" "" "0" "" "" "g.108622665A>T" "" "benign" "" "0000151938" "0" "10" "X" "107867527" "107867527" "subst" "0.000293016" "00687" "COL4A5_000804" "g.107867527T>G" "" "1000 genomes; NCBI" "" "CCT-CCG" "" "Germline" "" "" "0" "" "" "g.108624297T>G" "" "benign" "" "0000151939" "0" "10" "X" "107869340" "107869340" "subst" "0" "00687" "COL4A5_000900" "g.107869340G>A" "" "1000 genomes" "" "IVS35-100" "" "Germline" "" "" "0" "" "" "g.108626110G>A" "" "benign" "" "0000151940" "0" "10" "X" "107869646" "107869646" "subst" "0" "00687" "COL4A5_000901" "g.107869646A>G" "" "1000 genomes" "" "IVS36+67" "" "Germline" "" "" "0" "" "" "g.108626416A>G" "" "benign" "" "0000151941" "0" "10" "X" "107895645" "107895645" "subst" "0" "00687" "COL4A5_000902" "g.107895645T>A" "" "1000 genomes" "" "IVS36-2916" "" "Germline" "" "" "0" "" "" "g.108652415T>A" "" "benign" "" "0000151942" "0" "10" "X" "107895645" "107895645" "subst" "0" "00687" "COL4A5_000902" "g.107895645T>A" "" "1000 genomes" "" "IVS36-2916" "" "Germline" "" "" "0" "" "" "g.108652415T>A" "" "benign" "" "0000151943" "0" "10" "X" "107909790" "107909790" "subst" "0.00843378" "00687" "COL4A5_000805" "g.107909790T>G" "" "1000 genomes; NCBI" "" "GGT-GGG" "" "Germline" "" "" "0" "" "" "g.108666560T>G" "" "benign" "" "0000151944" "0" "10" "X" "107909866" "107909866" "subst" "0.0496429" "00687" "COL4A5_000904" "g.107909866T>C" "" "1000 genomes" "" "IVS39+42" "" "Germline" "" "" "0" "" "" "g.108666636T>C" "" "benign" "" "0000151945" "0" "10" "X" "107910442" "107910442" "subst" "0" "00687" "COL4A5_000905" "g.107910442A>G" "" "1000 genomes" "" "IVS40+29" "" "Germline" "" "" "0" "" "" "g.108667212A>G" "" "benign" "" "0000151946" "0" "10" "X" "107929412" "107929412" "subst" "0" "00687" "COL4A5_000906" "g.107929412G>A" "" "1000 genomes" "" "IVS48+83" "" "Germline" "" "" "0" "" "" "g.108686182G>A" "" "benign" "" "0000151947" "0" "10" "X" "107933220" "107933220" "subst" "0" "00687" "COL4A5_000907" "g.107933220C>G" "" "1000 genomes" "" "IVS49-2296" "" "Germline" "" "" "0" "" "" "g.108689990C>G" "" "benign" "" "0000151948" "0" "10" "X" "107933220" "107933220" "subst" "0" "00687" "COL4A5_000907" "g.107933220C>G" "" "1000 genomes" "" "IVS49-2296" "" "Germline" "" "" "0" "" "" "g.108689990C>G" "" "benign" "" "0000151949" "0" "10" "X" "107933220" "107933220" "subst" "0" "00687" "COL4A5_000907" "g.107933220C>G" "" "1000 genomes" "" "IVS49-2296" "" "Germline" "" "" "0" "" "" "g.108689990C>G" "" "benign" "" "0000151950" "0" "90" "X" "107930742" "107930742" "subst" "0" "00687" "COL4A5_000811" "g.107930742C>T" "" "1000 genomes; NCBI" "" "CCA-CTA" "" "Germline" "" "" "0" "" "" "g.108687512C>T" "" "pathogenic" "" "0000151951" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "" "Hapmap" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000151952" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "" "Hapmap" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000151953" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "0.5" "HapMap/NCBI" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000151954" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "0.167" "HapMap/NCBI" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000151955" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "0.083" "HapMap/NCBI" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000151956" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "0.1" "HapMap/NCBI" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000151957" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "0.25" "HapMap/NCBI" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000151958" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "0.261" "HapMap/NCBI" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000151959" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "0.283" "HapMap/NCBI" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000151960" "0" "10" "X" "107695542" "107695542" "subst" "0" "00687" "COL4A5_000910" "g.107695542T>G" "" "Hapmap/ NCBI" "" "IVS1+12106T>G" "" "Germline" "" "" "0" "" "" "g.108452312T>G" "" "benign" "" "0000151961" "0" "10" "X" "107695807" "107695807" "subst" "0" "00687" "COL4A5_000913" "g.107695807C>T" "" "Hapmap/ NCBI" "" "IVS1+12371C>T" "" "Germline" "" "" "0" "" "" "g.108452577C>T" "" "benign" "" "0000151962" "0" "10" "X" "107695924" "107695924" "subst" "0" "00687" "COL4A5_000914" "g.107695924G>A" "" "Hapmap/NCBI" "" "IVS1+12488G>A" "" "Germline" "" "" "0" "" "" "g.108452694G>A" "" "benign" "" "0000151963" "0" "10" "X" "107750988" "107750988" "subst" "0" "00687" "COL4A5_000923" "g.107750988A>G" "1" "Hapmap/NCBI" "" "82-31988A>G" "" "Germline" "" "" "0" "" "" "g.108507758A>G" "" "benign" "" "0000151964" "0" "10" "X" "107705128" "107705128" "subst" "0" "00687" "COL4A5_000917" "g.107705128A>G" "" "Hapmap" "" "IVS1+21692" "" "Germline" "" "" "0" "" "" "g.108461898A>G" "" "benign" "" "0000151965" "0" "10" "X" "107705128" "107705128" "subst" "0" "00687" "COL4A5_000917" "g.107705128A>G" "" "Hapmap" "" "IVS1+21692" "" "Germline" "" "" "0" "" "" "g.108461898A>G" "" "benign" "" "0000151966" "0" "10" "X" "107705128" "107705128" "subst" "0" "00687" "COL4A5_000917" "g.107705128A>G" "0.22" "Hapmap/NCBI" "" "IVS1+21692" "" "Germline" "" "" "0" "" "" "g.108461898A>G" "" "benign" "" "0000151967" "0" "10" "X" "107730921" "107730921" "subst" "0" "00687" "COL4A5_000920" "g.107730921G>A" "" "Hapmap/ NCBI" "" "IVS1+47485G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108487691G>A" "" "benign" "" "0000151968" "0" "10" "X" "107730969" "107730969" "subst" "0" "00687" "COL4A5_000921" "g.107730969G>A" "" "Hapmap/NCBI" "" "IVS1+47533G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108487739G>A" "" "benign" "" "0000151969" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.63" "Hapmap/ NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000151971" "0" "90" "X" "107834287" "107834875" "del" "0" "00687" "COL4A5_000667" "g.(107829978_107834287)_(107834875_107838738)del" "" "{PMID:Tan 2010:19965530}" "" "1165–1432del (G389_K474del)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151972" "0" "10" "X" "107819223" "107819223" "subst" "0.299215" "00687" "COL4A5_000417" "g.107819223T>C" "" "{PMID:Artuso 2012:21897443}" "" "IVS10+21t>c" "" "Germline" "" "" "0" "" "" "g.108575993T>C" "" "benign" "" "0000151973" "0" "10" "X" "107827809" "107827809" "subst" "0" "00687" "COL4A5_000926" "g.107827809T>C" "" "{PMID:Artuso 2012:21897443}" "" "IVS18+54t>c" "" "Germline" "" "" "0" "" "" "g.108584579T>C" "" "benign" "" "0000151974" "1" "90" "X" "107681171" "107683437" "" "0" "00687" "COL4A5_000375" "g.(107554059_107681171)_(107683437_107782975)del" "" "{PMID:Oohashi 2011:20951201}" "" "COL4A6 IVS2 to COL4A5 IVS1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000151975" "0" "90" "X" "107807142" "107807142" "subst" "7.31549E-5" "00687" "COL4A5_000928" "g.107807142C>T" "" "{PMID:Wang 2005:15780079}" "" "aCCA-TCA" "" "Germline" "" "" "0" "" "" "g.108563912C>T" "" "pathogenic" "" "0000151976" "0" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "{PMID:Wang 2005:15780079}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000151977" "0" "50" "X" "107840273" "107840273" "subst" "0" "00687" "COL4A5_000427" "g.107840273G>A" "" "{PMID:Wang 2005:15780079}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108597043G>A" "" "VUS" "" "0000151978" "0" "90" "X" "107840608" "107840608" "subst" "0" "00687" "COL4A5_000929" "g.107840608G>A" "" "{PMID:Wang 2005:15780079}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108597378G>A" "" "pathogenic" "" "0000151979" "0" "97" "X" "107821309" "107821309" "subst" "0" "00687" "COL4A5_000774" "g.107821309G>A" "" "{PMID:Wang 2005:15780079}" "" "GGG-GAG" "" "Germline" "" "" "0" "" "" "g.108578079G>A" "" "pathogenic" "" "0000151980" "0" "90" "X" "107821548" "107821548" "subst" "0" "00687" "COL4A5_000930" "g.107821548G>A" "" "{PMID:Wang 2005:15780079}" "" "tGGG-AGG" "" "Germline" "" "" "0" "" "" "g.108578318G>A" "" "pathogenic" "" "0000151981" "0" "50" "X" "107909797" "107909797" "subst" "0" "00687" "COL4A5_000931" "g.107909797G>A" "" "{PMID:Wang 2005:15780079}" "" "tGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108666567G>A" "" "VUS" "" "0000151982" "0" "50" "X" "107911603" "107911603" "subst" "0" "00687" "COL4A5_000168" "g.107911603G>A" "" "{PMID:Wang 2005:15780079}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108668373G>A" "" "VUS" "" "0000151983" "0" "99" "X" "107925118" "107925119" "del" "0" "00687" "COL4A5_000932" "g.107925118_107925119del" "" "{PMID:Zhao 2012:22919268}" "" "4216delGins4216+2_+72" "Heterozygous" "Germline" "" "" "0" "" "" "g.108681888_108681889del" "" "pathogenic" "" "0000151984" "11" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "{PMID:Strasser 2012:23144074}" "" "cGGA-AGA" "heterozygous" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000151985" "11" "99" "X" "107812026" "107812030" "delins" "0" "00687" "COL4A5_000933" "g.107812026_107812030delinsATAC" "" "{PMID:Wang 2013:23085274}" "" "359_363delGTATTinsATAC" "" "Germline" "" "" "0" "" "" "g.108568796_108568800delinsATAC" "" "pathogenic" "" "0000151986" "20" "90" "X" "107821327" "107821327" "subst" "0" "00687" "COL4A5_000934" "g.107821327T>G" "" "{PMID:Becknell 2011:20881942}" "" "" "" "Germline" "" "" "0" "" "" "g.108578097T>G" "" "pathogenic" "" "0000151987" "0" "90" "X" "107821344" "107821344" "subst" "0" "00687" "COL4A5_000935" "g.107821344G>T" "" "{PMID:Demosthenous 2012:21332469}" "" "tGAA-TGA" "" "Germline" "" "" "0" "" "" "g.108578114G>T" "" "pathogenic" "" "0000151989" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Demosthenous 2012:21332469}" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000151993" "0" "10" "X" "107802408" "107802408" "subst" "0" "00687" "COL4A5_000938" "g.107802408A>T" "" "{PMID:Demosthenous 2012:21332469}" "" "IVS3+25A>T" "" "Unknown" "" "" "0" "" "" "g.108559178A>T" "" "benign" "" "0000151994" "0" "10" "X" "107819223" "107819223" "subst" "0.299215" "00687" "COL4A5_000417" "g.107819223T>C" "" "{PMID:Demosthenous 2012:21332469}" "" "IVS10+21T>C" "" "Unknown" "" "" "0" "" "" "g.108575993T>C" "" "benign" "" "0000151995" "0" "10" "X" "107824289" "107824289" "subst" "0" "00687" "COL4A5_000939" "g.107824289A>G" "" "{PMID:Demosthenous 2012:21332469}" "" "IVS16+32A>G" "" "Germline" "" "" "0" "" "" "g.108581059A>G" "" "benign" "" "0000151996" "0" "10" "X" "107865895" "107865895" "subst" "0" "00687" "COL4A5_000897" "g.107865895A>C" "" "{PMID:Demosthenous 2012:21332469}" "" "IVS32-11" "" "Unknown" "" "" "0" "" "" "g.108622665A>C" "" "benign" "" "0000151997" "0" "10" "X" "107867491" "107867491" "subst" "0" "00687" "COL4A5_000940" "g.107867491A>G" "" "{PMID:Demosthenous 2012:21332469}" "" "p.(Lys981Lys)" "" "Unknown" "" "" "0" "" "" "g.108624261A>G" "" "benign" "" "0000151998" "0" "10" "X" "107910527" "107910527" "subst" "0" "00687" "COL4A5_000941" "g.107910527G>A" "" "{PMID:Demosthenous 2012:21332469}" "" "IVS40+114G>A" "" "Unknown" "" "" "0" "" "" "g.108667297G>A" "" "benign" "" "0000151999" "0" "90" "X" "107939579" "107939579" "subst" "0" "00687" "COL4A5_000212" "g.107939579C>T" "" "{PMID:Ma 2011:21505094}" "" "cCGA-TGA" "" "Germline" "" "" "0" "" "" "g.108696349C>T" "" "pathogenic" "" "0000152000" "0" "90" "X" "0" "0" "delins" "0" "00687" "COL4A5_000942" "g.?" "" "{PMID:Ma 2011:21505094}" "" "2587_2606delins2677+1203–2677+1277inv" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152001" "0" "90" "X" "107823770" "107823770" "del" "0" "00687" "COL4A5_000943" "g.107823770del" "" "{PMID:Ma 2011:21505094}" "" "" "" "Germline" "" "" "0" "" "" "g.108580540del" "" "pathogenic" "" "0000152002" "0" "70" "X" "107842113" "107842113" "subst" "0" "00687" "COL4A5_000963" "g.107842113T>G" "" "{PMID:Ma 2011:21505094}" "" "IVS25+13" "" "Germline" "" "" "0" "" "" "g.108598883T>G" "" "likely pathogenic" "" "0000152003" "0" "90" "X" "107929297" "107929297" "del" "0" "00687" "COL4A5_000945" "g.107929297del" "" "{PMID:Ma 2011:21505094}" "" "" "" "Germline" "" "" "0" "" "" "g.108686067del" "" "pathogenic" "" "0000152004" "0" "90" "X" "107938635" "107938635" "dup" "0" "00687" "COL4A5_000946" "g.107938635dup" "" "{PMID:Ma 2011:21505094}" "" "4960_4961insT" "" "Germline" "" "" "0" "" "" "g.108695405dup" "" "pathogenic" "" "0000152005" "0" "90" "X" "107868964" "107868964" "del" "0" "00687" "COL4A5_000947" "g.107868964del" "" "{PMID:Ma 2011:21505094}" "" "" "" "Germline" "" "" "0" "" "" "g.108625734del" "" "pathogenic" "" "0000152006" "0" "90" "X" "107816814" "107816814" "del" "0" "00687" "COL4A5_000948" "g.107816814del" "" "{PMID:Ma 2011:21505094}" "" "" "" "Germline" "" "" "0" "" "" "g.108573584del" "" "pathogenic" "" "0000152007" "0" "90" "X" "107819166" "107819167" "dup" "0" "00687" "COL4A5_000949" "g.107819166_107819167dup" "" "{PMID:Ma 2011:21505094}" "" "573_574insGA" "" "Germline" "" "" "0" "" "" "g.108575936_108575937dup" "" "pathogenic" "" "0000152008" "0" "90" "X" "107814698" "107814698" "subst" "0" "00687" "COL4A5_000950" "g.107814698T>C" "" "{PMID:Ma 2011:21505094}" "" "IVS7+2" "" "Germline" "" "" "0" "" "" "g.108571468T>C" "" "pathogenic" "" "0000152009" "0" "90" "X" "107863602" "107863602" "subst" "0" "00687" "COL4A5_000951" "g.107863602G>C" "" "{PMID:Ma 2011:21505094}" "" "aGGA-CGA" "" "Germline" "" "" "0" "" "" "g.108620372G>C" "" "pathogenic" "" "0000152010" "0" "90" "X" "107846211" "107846211" "subst" "0" "00687" "COL4A5_000952" "g.107846211G>C" "" "{PMID:Ma 2011:21505094}" "" "aGGA-CGA" "" "Germline" "" "" "0" "" "" "g.108602981G>C" "" "pathogenic" "" "0000152011" "0" "90" "X" "107929342" "107929342" "subst" "0" "00687" "COL4A5_000953" "g.107929342G>C" "" "{PMID:Ma 2011:21505094}" "" "GGT-GCT" "" "Germline" "" "" "0" "" "" "g.108686112G>C" "" "pathogenic" "" "0000152012" "0" "90" "X" "107911557" "107911557" "subst" "0" "00687" "COL4A5_000734" "g.107911557G>A" "" "{PMID:Ma 2011:21505094}" "" "gGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108668327G>A" "" "pathogenic" "" "0000152013" "0" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "{PMID:Ma 2011:21505094}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000152014" "0" "90" "X" "107844688" "107844688" "subst" "0" "00687" "COL4A5_000954" "g.107844688G>A" "" "{PMID:Ma 2011:21505094}" "" "aGGC-AGC" "" "Germline" "" "" "0" "" "" "g.108601458G>A" "" "pathogenic" "" "0000152015" "0" "90" "X" "107841987" "107841987" "subst" "0" "00687" "COL4A5_000955" "g.107841987G>A" "" "{PMID:Ma 2011:21505094}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108598757G>A" "" "pathogenic" "" "0000152016" "0" "90" "X" "107930712" "107930712" "subst" "0" "00687" "COL4A5_000956" "g.107930712G>T" "" "{PMID:Ma 2011:21505094}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108687482G>T" "" "pathogenic" "" "0000152017" "0" "90" "X" "107834398" "107834398" "subst" "0" "00687" "COL4A5_000056" "g.107834398G>A" "" "{PMID:Ma 2011:21505094}" "" "cGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108591168G>A" "" "pathogenic" "" "0000152018" "0" "90" "X" "107939580" "107939580" "subst" "0" "00687" "COL4A5_000214" "g.107939580G>T" "" "{PMID:Ma 2011:21505094}" "" "CGA-CTG" "" "Germline" "" "" "0" "" "" "g.108696350G>T" "" "pathogenic" "" "0000152019" "0" "90" "X" "107814688" "107814688" "subst" "0" "00687" "COL4A5_000956" "g.107814688G>C" "" "{PMID:Ma 2011:21505094}" "" "gGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108571458G>C" "" "pathogenic" "" "0000152020" "0" "90" "X" "107858228" "107858228" "subst" "0" "00687" "COL4A5_000957" "g.107858228G>A" "" "{PMID:Ma 2011:21505094}" "" "GGG-GAG" "" "Germline" "" "" "0" "" "" "g.108614998G>A" "" "pathogenic" "" "0000152021" "0" "90" "X" "107840763" "107840763" "subst" "0" "00687" "COL4A5_000958" "g.107840763G>A" "" "{PMID:Ma 2011:21505094}" "" "tGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108597533G>A" "" "pathogenic" "" "0000152022" "0" "90" "X" "107865051" "107865051" "subst" "0" "00687" "COL4A5_000959" "g.107865051G>T" "" "{PMID:Ma 2011:21505094}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108621821G>T" "" "pathogenic" "" "0000152023" "0" "90" "X" "107930853" "107930853" "subst" "0" "00687" "COL4A5_000960" "g.107930853C>G" "" "{PMID:Ma 2011:21505094}" "" "ACA-AGA" "" "Germline" "" "" "0" "" "" "g.108687623C>G" "" "pathogenic" "" "0000152024" "0" "70" "X" "107782975" "107819203" "del" "0" "00687" "COL4A5_000961" "g.(107683437_107782975)_(107819203_107821181)del" "" "{PMID:Ma 2011:21505094}" "" "E2_E10del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000152025" "0" "70" "X" "107868931" "107868931" "subst" "0" "00687" "COL4A5_000962" "g.107868931A>G" "" "{PMID:Ma 2011:21505094}" "" "IVS35-4" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108625701A>G" "" "likely pathogenic" "" "0000152026" "0" "10" "X" "107829907" "107829907" "subst" "0.0442794" "00687" "COL4A5_000402" "g.107829907G>C" "" "{PMID:Ma 2011:21505094}" "" "GGG-GGA" "" "Germline" "" "" "0" "" "" "g.108586677G>C" "" "benign" "" "0000152027" "0" "90" "X" "107834453" "107834453" "subst" "0.0434731" "00687" "COL4A5_000404" "g.107834453T>G" "" "{PMID:Ma 2011:21505094}" "" "ATT-AGT" "" "Germline" "" "" "0" "" "" "g.108591223T>G" "" "pathogenic" "" "0000152028" "0" "10" "X" "107845128" "107845128" "subst" "0.0431482" "00687" "COL4A5_000408" "g.107845128T>C" "" "{PMID:Ma 2011:21505094}" "" "CTT-CTC" "" "Germline" "" "" "0" "" "" "g.108601898T>C" "" "benign" "" "0000152029" "0" "10" "X" "107850076" "107850076" "subst" "0.0438653" "00687" "COL4A5_000409" "g.107850076G>A" "" "{PMID:Ma 2011:21505094}" "" "CCG-CCA" "" "Germline" "" "" "0" "" "" "g.108606846G>A" "" "benign" "" "0000152030" "0" "10" "X" "107909784" "107909784" "subst" "0.0508792" "00687" "COL4A5_000411" "g.107909784A>G" "" "{PMID:Ma 2011:21505094}" "" "CAA-CAG" "" "Germline" "" "" "0" "" "" "g.108666554A>G" "" "benign" "" "0000152031" "0" "10" "X" "107929337" "107929337" "subst" "0.0355565" "00687" "COL4A5_000414" "g.107929337C>T" "" "{PMID:Ma 2011:21505094}" "" "GAC-GAT" "" "Germline" "" "" "0" "" "" "g.108686107C>T" "" "benign" "" "0000152032" "0" "51" "X" "107814732" "107814732" "subst" "0.0354399" "00687" "COL4A5_000584" "g.107814732G>T" "" "{PMID:Ma 2011:21505094}" "" "IVS7+36" "" "Germline" "" "" "0" "" "" "g.108571502G>T" "" "VUS" "" "0000152033" "0" "10" "X" "107819223" "107819223" "subst" "0.299215" "00687" "COL4A5_000417" "g.107819223T>C" "" "{PMID:Ma 2011:21505094}" "" "IVS10+21T>C" "" "Germline" "" "" "0" "" "" "g.108575993T>C" "" "benign" "" "0000152034" "0" "10" "X" "107824005" "107824005" "subst" "0.0437673" "00687" "COL4A5_000886" "g.107824005A>G" "" "{PMID:Ma 2011:21505094}" "" "IVS15+37" "" "Germline" "" "" "0" "" "" "g.108580775A>G" "" "benign" "" "0000152035" "0" "10" "X" "107824051" "107824052" "ins" "0" "00687" "COL4A5_000964" "g.107824051_107824052insACTT" "" "{PMID:Ma 2011:21505094}" "" "IVS15+83_84insACTT" "" "Germline" "" "" "0" "" "" "g.108580821_108580822insACTT" "" "benign" "" "0000152036" "0" "10" "X" "107834642" "107834642" "subst" "0" "00687" "COL4A5_000965" "g.107834642A>G" "" "{PMID:Ma 2011:21505094}" "" "IVS20+181" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108591412A>G" "" "benign" "" "0000152037" "0" "10" "X" "107840434" "107840434" "subst" "0" "00687" "COL4A5_000966" "g.107840434A>G" "" "{PMID:Ma 2011:21505094}" "" "IVS23+136" "" "Germline" "" "" "0" "" "" "g.108597204A>G" "" "benign" "" "0000152038" "0" "10" "X" "107858304" "107858304" "subst" "0.0454885" "00687" "COL4A5_000895" "g.107858304T>G" "" "{PMID:Ma 2011:21505094}" "" "IVS30+50" "" "Germline" "" "" "0" "" "" "g.108615074T>G" "" "benign" "" "0000152039" "0" "10" "X" "107858399" "107858399" "subst" "0" "00687" "COL4A5_000967" "g.107858399T>A" "" "{PMID:Ma 2011:21505094}" "" "IVS30+145" "" "Germline" "" "" "0" "" "" "g.108615169T>A" "" "benign" "" "0000152040" "0" "10" "X" "107865895" "107865895" "subst" "0.16126" "00687" "COL4A5_000420" "g.107865895A>G" "" "{PMID:Ma 2011:21505094}" "" "IVS32-11A>G" "" "Germline" "" "" "0" "" "" "g.108622665A>G" "" "benign" "" "0000152041" "0" "10" "X" "107869340" "107869340" "subst" "0" "00687" "COL4A5_000900" "g.107869340G>A" "" "{PMID:Ma 2011:21505094}" "" "IVS35-100" "" "Germline" "" "" "0" "" "" "g.108626110G>A" "" "benign" "" "0000152042" "0" "10" "X" "107869646" "107869646" "subst" "0" "00687" "COL4A5_000901" "g.107869646A>G" "" "{PMID:Ma 2011:21505094}" "" "IVS36+67" "" "Germline" "" "" "0" "" "" "g.108626416A>G" "" "benign" "" "0000152043" "0" "10" "X" "107909866" "107909866" "subst" "0.0496429" "00687" "COL4A5_000904" "g.107909866T>C" "" "{PMID:Ma 2011:21505094}" "" "IVS39+42" "" "Germline" "" "" "0" "" "" "g.108666636T>C" "" "benign" "" "0000152044" "0" "90" "X" "107938144" "107938153" "dup" "0" "00687" "COL4A5_000366" "g.107938144_107938153dup" "" "{PMID:Van Der Loop 1999:10200983}" "" "5005+1Gins10" "" "Germline" "" "" "0" "" "" "g.108694914_108694923dup" "" "pathogenic" "" "0000152045" "0" "90" "X" "107909791" "107909791" "del" "0" "00687" "COL4A5_000968" "g.107909791del" "" "{PMID:Van Der Loop 1999:10200983}" "" "3723delA" "" "Germline" "" "" "0" "" "" "g.108666561del" "" "pathogenic" "" "0000152046" "0" "90" "X" "107863585" "107863585" "subst" "0" "00687" "COL4A5_000969" "g.107863585G>A" "" "{PMID:Van Der Loop 1999:10200983}" "" "2808G>A" "" "Germline" "" "" "0" "" "" "g.108620355G>A" "" "pathogenic" "" "0000152047" "0" "90" "X" "107840291" "107840291" "subst" "0" "00687" "COL4A5_000970" "g.107840291G>A" "" "{PMID:Van Der Loop 1999:10200983}" "" "1782G>A" "" "Germline" "" "" "0" "" "" "g.108597061G>A" "" "pathogenic" "" "0000152048" "0" "90" "X" "107814644" "107814644" "subst" "0" "00687" "COL4A5_000011" "g.107814644G>A" "" "{PMID:Van Der Loop 1999:10200983}" "" "588G>A" "" "Germline" "" "" "0" "" "" "g.108571414G>A" "" "pathogenic" "" "0000152049" "0" "90" "X" "107936016" "107936016" "subst" "0.00015701" "00687" "COL4A5_000197" "g.107936016C>A" "" "{PMID:Renieri 1996:08651296}" "" "gCCT-ACT" "" "Germline" "" "" "0" "" "" "g.108692786C>A" "" "pathogenic" "" "0000152050" "1" "90" "X" "107553977" "107683437" "" "0" "00687" "COL4A5_000374" "g.(107464605_107553977)_(107683437_107782975)del" "" "{PMID:Uliana 2011:21380622}" "" "COL4A6 E3 to COL4A5 E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152051" "1" "90" "X" "107681171" "107869580" "" "0" "00687" "COL4A5_001364" "g.(107554059_107681171)_(107869580_107898560)del" "" "{PMID:Uliana 2011:21380622}" "" "COL4A6 E2 to COL4A5 E36del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152052" "1" "90" "X" "107681171" "107683437" "" "0" "00687" "COL4A5_000375" "g.(107554059_107681171)_(107683437_107782975)del" "" "{PMID:Uliana 2011:21380622}" "" "COL4A6 E2 to COL4A5 E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152053" "0" "90" "X" "107840608" "107840608" "subst" "0" "00687" "COL4A5_000929" "g.107840608G>A" "" "{PMID:Zhang 2011:21143337}" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108597378G>A" "" "pathogenic" "" "0000152054" "0" "90" "X" "107865051" "107865060" "del" "0" "00687" "COL4A5_000643" "g.107865051_107865060del" "" "{PMID:Zhang 2011:21143337}" "" "2696delGTATGATGGG" "" "De novo" "" "" "0" "" "" "g.108621821_108621830del" "" "pathogenic" "" "0000152055" "0" "90" "X" "107920776" "107920784" "del" "0" "00687" "COL4A5_000972" "g.107920776_107920784del;107920792_107920793insA" "" "{PMID:Zhang 2011:21143337}" "" "3837_3845delTATTAAAGG(+)3853_3854insA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152056" "0" "90" "X" "107929333" "107929333" "subst" "0" "00687" "COL4A5_000188" "g.107929333G>A" "" "{PMID:Zhang 2011:21143337}" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108686103G>A" "" "pathogenic" "" "0000152057" "0" "90" "X" "107829947" "107829947" "subst" "0" "00687" "COL4A5_000973" "g.107829947C>T" "" "{PMID:Tug 2011:21848006}" "" "aCAG-TAG" "" "Germline" "" "" "0" "" "" "g.108586717C>T" "" "pathogenic" "" "0000152058" "0" "90" "X" "107834338" "107834338" "subst" "0" "00687" "COL4A5_000974" "g.107834338G>A" "" "{PMID:Rotondi 2012:22518824}" "" "gGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108591108G>A" "" "pathogenic" "" "0000152059" "1" "90" "X" "107681171" "107939609" "" "0" "00687" "COL4A5_000975" "g.(107554059_107681171)_(107939609_?)del" "" "{PMID:Nozu 2008:18584212}, {PMID:Nozu 2009:19169714}" "" "COL4A6 E2 to COL4A5 E53del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152060" "0" "90" "X" "107838738" "107840799" "del" "0" "00687" "COL4A5_000976" "g.(107834875_107838738)_(107840799_107841931)del" "" "{PMID:Zhang 2012:23290210}" "" "COL4A5 E22_24del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152061" "0" "90" "X" "107858140" "107858255" "del" "0" "00687" "COL4A5_000977" "g.(107850123_107858140)_(107858255_107863488)del" "" "{PMID:Zhang 2012:23290210}" "" "COL4A5 E30del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152062" "1" "90" "X" "107681171" "107783036" "" "0" "00687" "COL4A5_000978" "g.(107554059_107681171)_(107783036_107802293)del" "" "{PMID:Zhang 2012:23290210}" "" "COL4A6 E2 to COL4A5 E2del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152063" "1" "90" "X" "107759521" "108908918" "del" "0" "00687" "COL4A5_000981" "g.107759521_108908918del" "" "{PMID:Rodriguez 2010:20186809}" "" "IVS1 to ACSL4 IVS12del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152064" "0" "90" "X" "107935977" "108928674" "" "0" "00687" "COL4A5_000980" "g.(107930925_107935977)_(108928674_108939372)del" "" "{PMID:Robson 1994:7923864}, {PMID:Rodriguez 2010:20186809}, {PMID:Meloni 2002:12011158}" "" "COL4A5 IVS47-ACSL4 IVS2 del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152065" "0" "90" "X" "107759521" "108908918" "del" "0" "00687" "COL4A5_000981" "g.107759521_108908918del" "" "{PMID:Rodriguez 2010:20186809}, {PMID:Meloni 2002:12011158}, {PMID:Piccini 1998:09480748}" "" "COL4A5 IVS2_ACSL4 IVS12 del" "fusion transcript COL4A5_ACSL4" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152066" "1" "99" "X" "107681171" "107683437" "" "0" "00687" "COL4A5_000375" "g.(107554059_107681171)_(107683437_107782975)del" "" "Heidet" "" "COL4A6 E2 to COL4A5 E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152067" "0" "99" "X" "107683355" "107783036" "del" "0" "00687" "COL4A5_000982" "g.(?_107683355)_(107783036_107802293)del" "" "Matonagel" "" "Ex1_2del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152068" "0" "99" "X" "107683355" "107939609" "del" "0" "00687" "COL4A5_000381" "g.(?_107683355)_(107939609_?)del" "" "Matonagel" "" "Ex1_53del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152069" "0" "99" "X" "107683355" "107814697" "del" "0" "00687" "COL4A5_000984" "g.(?_107683355)_(107814697_107815040)del" "" "Matonagel" "" "Ex1_7del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152070" "0" "99" "X" "107683355" "107683437" "" "0" "00687" "COL4A5_000985" "g.(?_107683355)_(107683437_107782975)del" "" "Matonagel" "" "Ex1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152071" "0" "99" "X" "107683355" "107683437" "" "0" "00687" "COL4A5_000985" "g.(?_107683355)_(107683437_107782975)del" "" "Matonagel" "" "Ex1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152072" "0" "90" "X" "107683356" "107683356" "subst" "0" "00687" "COL4A5_000004" "g.107683356A>G" "" "Matonagel" "" "Met1Val" "" "Germline" "" "" "0" "" "" "g.108440126A>G" "" "pathogenic" "" "0000152073" "0" "90" "X" "107683356" "107683356" "subst" "0" "00687" "COL4A5_000004" "g.107683356A>G" "" "Matonagel" "" "Met1Val" "" "Germline" "" "" "0" "" "" "g.108440126A>G" "" "pathogenic" "" "0000152074" "0" "90" "X" "107782975" "107838832" "del" "0" "00687" "COL4A5_000987" "g.(107683437_107782975)_(107838832_107840227)dup" "" "Matonagel" "" "Ex2_22dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152075" "0" "90" "X" "107782975" "107924187" "del" "0" "00687" "COL4A5_000988" "g.(107683437_107782975)_(107924187_107924989)del" "" "Matonagel" "" "Ex2_46del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152076" "0" "90" "X" "107782975" "107939609" "del" "0" "00687" "COL4A5_000383" "g.(107683437_107782975)_(107939609_?)del" "" "Heidet" "" "Ex2_51del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152077" "0" "90" "X" "107782984" "107782984" "subst" "0" "00687" "COL4A5_000007" "g.107782984T>G" "" "ARUP" "" "cTAT>cTAG" "" "Germline" "" "" "0" "" "" "g.108539754T>G" "" "pathogenic" "" "0000152078" "0" "90" "X" "107802293" "107869580" "del" "0" "00687" "COL4A5_000990" "g.(107783036_107802293)_(107869580_107898560)del" "" "Matonagel" "" "Ex3_36dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152079" "0" "90" "X" "107802298" "107802298" "subst" "0" "00687" "COL4A5_000991" "g.107802298A>G" "" "Matonagel" "" "GAG>GGG" "" "Germline" "" "" "0" "" "" "g.108559068A>G" "" "pathogenic" "" "0000152080" "0" "90" "X" "107802302" "107802303" "dup" "0" "00687" "COL4A5_000992" "g.107802302_107802303dup" "" "Heidet" "" "150_151insAG" "" "Germline" "" "" "0" "" "" "g.108559072_108559073dup" "" "pathogenic" "" "0000152081" "0" "90" "X" "107802303" "107802303" "subst" "0" "00687" "COL4A5_000993" "g.107802303G>A" "" "Hae Il et al" "" "GGG>AGG" "" "Germline" "" "" "0" "" "" "g.108559073G>A" "" "pathogenic" "" "0000152082" "0" "90" "X" "107802328" "107802328" "del" "0" "00687" "COL4A5_000994" "g.107802328del" "" "Hae Il et al" "" "cCCA>cCAg" "" "Germline" "" "" "0" "" "" "g.108559098del" "" "pathogenic" "" "0000152083" "0" "90" "X" "107802374" "107802401" "del" "0" "00687" "COL4A5_000995" "g.107802374_107802401del" "" "Matonagel" "" "222_249delGGGACAAAAGGTATGTATCATGTTGCCA" "" "Germline" "" "" "0" "" "" "g.108559144_108559171del" "" "pathogenic" "" "0000152084" "0" "90" "X" "107807110" "107807110" "subst" "0" "00687" "COL4A5_000996" "g.107807110A>G" "" "Heidet" "" "IVS3-2A>G" "" "Germline" "" "" "0" "" "" "g.108563880A>G" "" "pathogenic" "" "0000152085" "0" "90" "X" "107807113" "107807113" "del" "0" "00687" "COL4A5_000997" "g.107807113del" "" "Matonagel" "" "232delG" "" "Germline" "" "" "0" "" "" "g.108563883del" "" "pathogenic" "" "0000152086" "0" "90" "X" "107807113" "107807113" "del" "0" "00687" "COL4A5_000997" "g.107807113del" "" "Matonagel" "" "232delG" "" "Germline" "" "" "0" "" "" "g.108563883del" "" "pathogenic" "" "0000152087" "0" "90" "X" "107807155" "107807158" "del" "0" "00687" "COL4A5_000998" "g.107807155_107807158del" "" "Hae Il et al" "" "275_276delGA, 276+1_2delGT" "" "Germline" "" "" "0" "" "" "g.108563925_108563928del" "" "pathogenic" "" "0000152088" "0" "90" "X" "107807155" "107807158" "del" "0" "00687" "COL4A5_000998" "g.107807155_107807158del" "" "Heidet" "" "275_276delGA, 276+1_2delGT" "" "Germline" "" "" "0" "" "" "g.108563925_108563928del" "" "pathogenic" "" "0000152089" "0" "90" "X" "107807157" "107807158" "del" "0" "00687" "COL4A5_000999" "g.107807157_107807158del" "" "Hae Il et al" "" "276+1_2delGT" "" "Germline" "" "" "0" "" "" "g.108563927_108563928del" "" "pathogenic" "" "0000152090" "0" "90" "X" "107811875" "107811875" "del" "0" "00687" "COL4A5_000294" "g.107811875del" "" "Matonagel" "" "292delC" "" "Germline" "" "" "0" "" "" "g.108568645del" "" "pathogenic" "" "0000152091" "0" "90" "X" "107811875" "107811875" "del" "0" "00687" "COL4A5_000294" "g.107811875del" "" "Heidet" "" "293delC" "" "Germline" "" "" "0" "" "" "g.108568645del" "" "pathogenic" "" "0000152092" "0" "90" "X" "107811904" "107811905" "dup" "0" "00687" "COL4A5_001000" "g.107811904_107811905dup" "" "Heidet" "" "321_321+1 dupTG" "" "Germline" "" "" "0" "" "" "g.108568674_108568675dup" "" "pathogenic" "" "0000152093" "0" "70" "X" "107811906" "107811906" "subst" "0" "00687" "COL4A5_001001" "g.107811906A>T" "" "ARUP" "" "IVS5+3A>T" "" "Germline" "" "" "0" "" "" "g.108568676A>T" "" "likely pathogenic" "" "0000152094" "0" "70" "X" "107811906" "107811906" "subst" "0" "00687" "COL4A5_001001" "g.107811906A>T" "" "ARUP" "" "IVS5+3A>T" "" "Germline" "" "" "0" "" "" "g.108568676A>T" "" "likely pathogenic" "" "0000152095" "0" "90" "X" "107811989" "107811989" "subst" "0" "00687" "COL4A5_001002" "g.107811989G>T" "" "Matonagel" "" "GGA>TGA" "" "Germline" "" "" "0" "" "" "g.108568759G>T" "" "pathogenic" "" "0000152096" "0" "90" "X" "107812016" "107812016" "subst" "0" "00687" "COL4A5_001003" "g.107812016G>T" "" "Heidet" "" "GGA>TGA" "" "Germline" "" "" "0" "" "" "g.108568786G>T" "" "pathogenic" "" "0000152097" "0" "90" "X" "107812034" "107812034" "subst" "0" "00687" "COL4A5_001004" "g.107812034G>A" "" "Matonagel" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108568804G>A" "" "pathogenic" "" "0000152098" "0" "90" "X" "107812034" "107812034" "subst" "0" "00687" "COL4A5_001004" "g.107812034G>A" "" "Heidet" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108568804G>A" "" "pathogenic" "" "0000152099" "0" "90" "X" "107812035" "107812035" "subst" "0" "00687" "COL4A5_001005" "g.107812035G>A" "" "Matonagel" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108568805G>A" "" "pathogenic" "" "0000152100" "0" "90" "X" "107814641" "107814641" "subst" "0" "00687" "COL4A5_001006" "g.107814641A>G" "" "Heidet" "" "IVS6-2A>G" "" "Germline" "" "" "0" "" "" "g.108571411A>G" "" "pathogenic" "" "0000152101" "0" "90" "X" "107814644" "107814644" "subst" "0" "00687" "COL4A5_000011" "g.107814644G>A" "" "Matonagel" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108571414G>A" "" "pathogenic" "" "0000152102" "0" "90" "X" "107814689" "107814689" "subst" "0" "00687" "COL4A5_000739" "g.107814689G>A" "" "Hae Il et al" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108571459G>A" "" "pathogenic" "" "0000152103" "0" "70" "X" "107814701" "107814701" "subst" "0" "00687" "COL4A5_000749" "g.107814701G>A" "" "Heidet" "" "IVS7+5G>A" "" "Germline" "" "" "0" "" "" "g.108571471G>A" "" "likely pathogenic" "" "0000152104" "0" "90" "X" "107815048" "107815048" "del" "0" "00687" "COL4A5_000296" "g.107815048del" "" "Matonagel" "" "442_443insC" "" "Germline" "" "" "0" "" "" "g.108571818del" "" "pathogenic" "" "0000152105" "0" "90" "X" "107815060" "107815060" "subst" "0" "00687" "COL4A5_000760" "g.107815060G>A" "" "Heidet" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108571830G>A" "" "pathogenic" "" "0000152106" "0" "90" "X" "107816802" "107816802" "subst" "0" "00687" "COL4A5_000233" "g.107816802A>G" "" "Hae Il et al" "" "IVS8-2A>G" "" "Germline" "" "" "0" "" "" "g.108573572A>G" "" "pathogenic" "" "0000152107" "0" "90" "X" "107816802" "107816802" "subst" "0" "00687" "COL4A5_000233" "g.107816802A>G" "" "Hae Il et al" "" "IVS8-2A>G" "" "Germline" "" "" "0" "" "" "g.108573572A>G" "" "pathogenic" "" "0000152108" "0" "90" "X" "107816803" "107816803" "subst" "0" "00687" "COL4A5_001008" "g.107816803G>A" "" "Matonagel" "" "IVS8-1G>A" "" "Germline" "" "" "0" "" "" "g.108573573G>A" "" "pathogenic" "" "0000152109" "0" "90" "X" "107816826" "107816826" "subst" "0.000195937" "00687" "COL4A5_001009" "g.107816826T>C" "" "Matonagel" "" "ATG>ACG" "" "Germline" "" "" "0" "" "" "g.108573596T>C" "" "pathogenic" "" "0000152110" "0" "90" "X" "107816868" "107816868" "subst" "0" "00687" "COL4A5_001010" "g.107816868G>A" "" "ARUP" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108573638G>A" "" "pathogenic" "" "0000152111" "0" "90" "X" "107816868" "107816868" "subst" "0" "00687" "COL4A5_001011" "g.107816868G>T" "" "Matonagel" "" "GGT>GTT" "" "Germline" "" "" "0" "" "" "g.108573638G>T" "" "pathogenic" "" "0000152112" "0" "90" "X" "107816882" "107816882" "subst" "0" "00687" "COL4A5_001012" "g.107816882C>T" "" "Hae Il et al" "" "CAA>TAA" "" "Germline" "" "" "0" "" "" "g.108573652C>T" "" "pathogenic" "" "0000152113" "0" "90" "X" "107816882" "107816882" "subst" "0" "00687" "COL4A5_001012" "g.107816882C>T" "" "Heidet" "" "" "" "Germline" "" "" "0" "" "" "g.108573652C>T" "" "pathogenic" "" "0000152114" "0" "90" "X" "107819139" "107827756" "" "0" "00687" "COL4A5_001013" "g.(107816885_107819139)_(107827756_107829844)del" "" "Heidet" "" "Ex10_18del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152115" "0" "90" "X" "107819139" "107840799" "del" "0" "00687" "COL4A5_001014" "g.(107816885_107819139)_(107840799_107841931)dup" "" "Matonagel" "" "Ex10_24dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152116" "0" "90" "X" "107819141" "107819141" "del" "0" "00687" "COL4A5_001015" "g.107819141del" "" "Hae Il et al" "" "547delG" "" "Germline" "" "" "0" "" "" "g.108575911del" "" "pathogenic" "" "0000152117" "0" "90" "X" "107819149" "107819149" "subst" "0" "00687" "COL4A5_001016" "g.107819149G>C" "" "Matonagel" "" "GGT>CGT" "" "Germline" "" "" "0" "" "" "g.108575919G>C" "" "pathogenic" "" "0000152118" "0" "90" "X" "107819163" "107819163" "dup" "0" "00687" "COL4A5_001017" "g.107819163dup" "" "Heidet" "" "570_571insA" "" "Germline" "" "" "0" "" "" "g.108575933dup" "" "pathogenic" "" "0000152119" "0" "70" "X" "107819167" "107819172" "del" "0" "00687" "COL4A5_001018" "g.107819167_107819172del" "" "Matonagel" "" "574_579delGGG CCA" "" "Germline" "" "" "0" "" "" "g.108575937_108575942del" "" "likely pathogenic" "" "0000152120" "0" "90" "X" "107819176" "107819176" "subst" "0" "00687" "COL4A5_001019" "g.107819176G>C" "" "Matonagel" "" "GGT>CGT" "" "Germline" "" "" "0" "" "" "g.108575946G>C" "" "pathogenic" "" "0000152121" "0" "90" "X" "107819183" "107819183" "del" "0" "00687" "COL4A5_001020" "g.107819183del" "" "Matonagel" "" "586delC" "" "Germline" "" "" "0" "" "" "g.108575953del" "" "pathogenic" "" "0000152122" "0" "90" "X" "107819182" "107819183" "dup" "0" "00687" "COL4A5_001021" "g.107819182_107819183dup" "" "Heidet" "" "589_590insCC" "" "Germline" "" "" "0" "" "" "g.108575952_108575953dup" "" "pathogenic" "" "0000152123" "0" "90" "X" "107819204" "107819204" "subst" "0" "00687" "COL4A5_001022" "g.107819204T>G" "" "Matonagel" "" "IVS10+2T>G" "" "Germline" "" "" "0" "" "" "g.108575974T>G" "" "pathogenic" "" "0000152124" "0" "90" "X" "107819200" "107819200" "del" "0" "00687" "COL4A5_001023" "g.107819200del" "" "Matonagel" "" "IVS10-2delA" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108575970delA" "" "pathogenic" "" "0000152125" "0" "90" "X" "107821183" "107821183" "subst" "0" "00687" "COL4A5_000020" "g.107821183G>T" "" "Heidet" "" "GGC>GTC" "" "Germline" "" "" "0" "" "" "g.108577953G>T" "" "pathogenic" "" "0000152126" "0" "90" "X" "107821218" "107821218" "subst" "0" "00687" "COL4A5_001024" "g.107821218G>A" "" "Hae Il et al" "" "IVS11+1G>A" "" "Germline" "" "" "0" "" "" "g.108577988G>A" "" "pathogenic" "" "0000152127" "0" "90" "X" "107821306" "107821306" "subst" "0" "00687" "COL4A5_001025" "g.107821306A>G" "" "Matonagel" "" "IVS11-2A>G" "" "Germline" "" "" "0" "" "" "g.108578076A>G" "" "pathogenic" "" "0000152128" "0" "90" "X" "107821307" "107821307" "subst" "0" "00687" "COL4A5_001026" "g.107821307G>A" "" "Matonagel" "" "IVS11-1G>A" "" "Germline" "" "" "0" "" "" "g.108578077G>A" "" "pathogenic" "" "0000152129" "0" "90" "X" "107821308" "107821308" "subst" "0" "00687" "COL4A5_000021" "g.107821308G>A" "" "Heidet" "" "GGG>AGG" "" "Germline" "" "" "0" "" "" "g.108578078G>A" "" "pathogenic" "" "0000152130" "0" "90" "X" "107821329" "107821329" "subst" "0" "00687" "COL4A5_000935" "g.107821329C>T" "" "Hae Il et al" "" "CAG>TAG" "" "Germline" "" "" "0" "" "" "g.108578099C>T" "" "pathogenic" "" "0000152131" "0" "90" "X" "107821334" "107821335" "del" "0" "00687" "COL4A5_001027" "g.107821334_107821335del" "" "Matonagel" "" "672_673delACfs p.227X" "" "Germline" "" "" "0" "" "" "g.108578104_108578105del" "" "pathogenic" "" "0000152132" "0" "90" "X" "107821347" "107821347" "subst" "0" "00687" "COL4A5_001028" "g.107821347A>T" "" "Heidet" "" "aAAA-aTAA" "" "Germline" "" "" "0" "" "" "g.108578117A>T" "" "pathogenic" "" "0000152133" "0" "70" "X" "107821351" "107821351" "subst" "0" "00687" "COL4A5_001029" "g.107821351T>C" "" "Matonagel" "" "IVS12+2T>C" "" "Germline" "" "" "0" "" "" "g.108578121T>C" "" "likely pathogenic" "" "0000152134" "0" "70" "X" "107821516" "107821516" "subst" "0" "00687" "COL4A5_001030" "g.107821516A>G" "" "Matonagel" "" "IVS12-5A>G" "" "Germline" "" "" "0" "" "" "g.108578286A>G" "" "likely pathogenic" "" "0000152135" "0" "70" "X" "107821516" "107821516" "subst" "0" "00687" "COL4A5_001030" "g.107821516A>G" "" "Heidet" "" "IVS12-5A>G" "" "Germline" "" "" "0" "" "" "g.108578286A>G" "" "likely pathogenic" "" "0000152136" "0" "70" "X" "107821516" "107821516" "subst" "0" "00687" "COL4A5_001030" "g.107821516A>G" "" "Fundacio_Puigvert" "" "IVS12-5A>G" "" "Germline" "" "" "0" "" "" "g.108578286A>G" "" "likely pathogenic" "" "0000152137" "0" "90" "X" "107821521" "107821521" "subst" "0" "00687" "COL4A5_001031" "g.107821521G>A" "" "Heidet" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108578291G>A" "" "pathogenic" "" "0000152138" "0" "90" "X" "107821522" "107821522" "subst" "0" "00687" "COL4A5_001032" "g.107821522G>C" "" "Jens Denmark" "" "GGT>GCT" "" "Germline" "" "" "0" "" "" "g.108578292G>C" "" "pathogenic" "" "0000152139" "0" "90" "X" "107821530" "107821530" "subst" "0" "00687" "COL4A5_001033" "g.107821530G>A" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108578300G>A" "" "pathogenic" "" "0000152140" "0" "90" "X" "107821530" "107821530" "subst" "0" "00687" "COL4A5_001033" "g.107821530G>A" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108578300G>A" "" "pathogenic" "" "0000152141" "0" "90" "X" "107821531" "107821531" "subst" "0" "00687" "COL4A5_001034" "g.107821531G>A" "" "Heidet" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108578301G>A" "" "pathogenic" "" "0000152142" "0" "90" "X" "107821531" "107821531" "subst" "0" "00687" "COL4A5_001035" "g.107821531G>T" "" "Hae Il et al" "" "GGT>GTT" "" "Germline" "" "" "0" "" "" "g.108578301G>T" "" "pathogenic" "" "0000152143" "0" "90" "X" "107821531" "107821531" "subst" "0" "00687" "COL4A5_001035" "g.107821531G>T" "" "Hae Il et al" "" "GGT>aGTT" "" "Germline" "" "" "0" "" "" "g.108578301G>T" "" "pathogenic" "" "0000152144" "0" "90" "X" "107821536" "107821536" "subst" "0" "00687" "COL4A5_001036" "g.107821536C>T" "" "Hae Il et al" "" "CAG>TAG" "" "Germline" "" "" "0" "" "" "g.108578306C>T" "" "pathogenic" "" "0000152145" "0" "70" "X" "107821544" "107821546" "del" "0" "00687" "COL4A5_001037" "g.107821544_107821546del" "" "ARUP" "" "710_714delACC" "" "Germline" "" "" "0" "" "" "g.108578314_108578316del" "" "likely pathogenic" "" "0000152146" "0" "90" "X" "107821594" "107821595" "del" "0" "00687" "COL4A5_000301" "g.107821594_107821595del" "" "Matonagel" "" "761_762delAG" "A similar 2 nucleotide deletion has been described close to this position [PMID 8738805]" "Germline" "" "" "0" "" "" "g.108578364_108578365del" "" "pathogenic" "" "0000152147" "0" "90" "X" "107821594" "107821595" "del" "0" "00687" "COL4A5_000301" "g.107821594_107821595del" "" "Matonagel" "" "761_762delAG" "A similar deletion has been described close to this position [PMID 8738805]" "Germline" "" "" "0" "" "" "g.108578364_108578365del" "" "pathogenic" "" "0000152148" "0" "90" "X" "107823762" "107829978" "del" "0" "00687" "COL4A5_001039" "g.(107821614_107823762)_(107829978_107834287)del" "" "Heidet" "" "Ex14_Ex19del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152149" "0" "90" "X" "107823778" "107823778" "subst" "0" "00687" "COL4A5_000028" "g.107823778C>T" "" "Matonagel" "" "CGA>TGA" "" "Germline" "" "" "0" "" "" "g.108580548C>T" "" "pathogenic" "" "0000152150" "0" "90" "X" "107823778" "107823778" "subst" "0" "00687" "COL4A5_000028" "g.107823778C>T" "" "Hae Il et al" "" "CGA>TGA" "" "Germline" "" "" "0" "" "" "g.108580548C>T" "" "pathogenic" "" "0000152151" "0" "90" "X" "107823791" "107823791" "subst" "0" "00687" "COL4A5_001040" "g.107823791G>A" "" "Heidet" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108580561G>A" "" "pathogenic" "" "0000152152" "0" "90" "X" "107823817" "107823817" "subst" "0" "00687" "COL4A5_000241" "g.107823817G>A" "" "Heidet" "" "IVS14+1G>A" "" "Germline" "" "" "0" "" "" "g.108580587G>A" "" "pathogenic" "" "0000152153" "0" "90" "X" "107823818" "107823818" "del" "0" "00687" "COL4A5_001041" "g.107823818del" "" "Matonagel" "" "IVS14+2delT" "" "Germline" "" "" "0" "" "" "g.108580588del" "" "pathogenic" "" "0000152154" "0" "90" "X" "107823818" "107823818" "subst" "0" "00687" "COL4A5_001042" "g.107823818T>G" "" "Heidet" "" "IVS14+2T>G" "" "Germline" "" "" "0" "" "" "g.108580588T>G" "" "pathogenic" "" "0000152155" "0" "90" "X" "107823818" "107823818" "subst" "0" "00687" "COL4A5_001042" "g.107823818T>G" "" "Matonagel" "" "IVS14+2T>G" "" "Germline" "" "" "0" "" "" "g.108580588T>G" "" "pathogenic" "" "0000152156" "0" "90" "X" "107823943" "107823943" "subst" "0" "00687" "COL4A5_000030" "g.107823943G>T" "" "Matonagel" "" "GGT>GTT" "" "Germline" "" "" "0" "" "" "g.108580713G>T" "" "pathogenic" "" "0000152157" "0" "90" "X" "107823952" "107823952" "subst" "0" "00687" "COL4A5_001044" "g.107823952G>A" "" "Matonagel" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108580722G>A" "" "pathogenic" "" "0000152158" "0" "90" "X" "107823965" "107823966" "del" "0" "00687" "COL4A5_001045" "g.107823965_107823966del" "" "Heidet" "" "888_889DelAA" "" "Germline" "" "" "0" "" "" "g.108580735_108580736del" "" "pathogenic" "" "0000152159" "0" "90" "X" "107824212" "107923982" "del" "0" "00687" "COL4A5_001046" "g.(107823969_107824212)_(107923982_107924114)del" "" "ARUP" "" "E16-E43del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152160" "0" "90" "X" "107824213" "107824213" "subst" "0" "00687" "COL4A5_000034" "g.107824213G>A" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108580983G>A" "" "pathogenic" "" "0000152161" "0" "90" "X" "107824222" "107824222" "subst" "0" "00687" "COL4A5_001047" "g.107824222G>A" "" "Heidet" "" "GGC>AGC" "" "Germline" "" "" "0" "" "" "g.108580992G>A" "" "pathogenic" "" "0000152162" "0" "70" "X" "107824259" "107824259" "subst" "0" "00687" "COL4A5_001048" "g.107824259T>C" "" "Matonagel" "" "IVS16+2T>C" "" "Germline" "" "" "0" "" "" "g.108581029T>C" "" "likely pathogenic" "" "0000152163" "0" "90" "X" "107826124" "107826124" "subst" "0" "00687" "COL4A5_001049" "g.107826124G>C" "" "Fundacio_Puigvert" "" "GGT>GCT" "" "Germline" "" "" "0" "" "" "g.108582894G>C" "" "pathogenic" "" "0000152164" "0" "90" "X" "107826132" "107826132" "subst" "0" "00687" "COL4A5_000036" "g.107826132G>C" "" "Hae Il et al" "" "GGT>CGT" "" "Germline" "" "" "0" "" "" "g.108582902G>C" "" "pathogenic" "" "0000152165" "0" "90" "X" "107826137" "107826137" "subst" "0" "00687" "COL4A5_001050" "g.107826137C>G" "" "Hae Il et al" "" "TAC-TAG" "" "Germline" "" "" "0" "" "" "g.108582907C>G" "" "pathogenic" "" "0000152166" "0" "90" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "Matonagel" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "pathogenic" "" "0000152167" "0" "90" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "Carmen Fernandes" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "pathogenic" "" "0000152168" "0" "90" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "Carmen Fernandes" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "pathogenic" "" "0000152169" "0" "90" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "Carmen Fernandes" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "pathogenic" "" "0000152170" "0" "90" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "Heidet" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "pathogenic" "" "0000152171" "0" "90" "X" "107827733" "107827733" "subst" "0" "00687" "COL4A5_001051" "g.107827733G>A" "" "ARUP" "" "GGC>GAC" "" "Germline" "" "" "0" "" "" "g.108584503G>A" "" "pathogenic" "" "0000152172" "0" "90" "X" "107827751" "107827757" "delins" "0" "00687" "COL4A5_001052" "g.107827751_107827757delinsTC" "" "Matonagel" "" "1028delGACTTGTinsTC" "" "Germline" "" "" "0" "" "" "g.108584521_108584527delinsTC" "" "pathogenic" "" "0000152173" "0" "90" "X" "107827756" "107827756" "subst" "0" "00687" "COL4A5_001053" "g.107827756G>A" "" "Heidet" "" "IVS18+1G>A" "" "Germline" "" "" "0" "" "" "g.108584526G>A" "" "pathogenic" "" "0000152174" "0" "90" "X" "107829844" "107829844" "subst" "0" "00687" "COL4A5_001054" "g.107829844G>A" "" "Heidet" "" "IVS18-1G>A" "" "Germline" "" "" "0" "" "" "g.108586614G>A" "" "pathogenic" "" "0000152175" "0" "90" "X" "107829843" "107829843" "subst" "0" "00687" "COL4A5_001055" "g.107829843A>T" "" "ARUP" "" "IVS18-2A>T" "" "Germline" "" "" "0" "" "" "g.108586613A>T" "" "pathogenic" "" "0000152176" "0" "90" "X" "107829897" "107829897" "subst" "0" "00687" "COL4A5_001056" "g.107829897G>A" "" "Heidet" "" "GGG>GAG" "" "Germline" "" "" "0" "" "" "g.108586667G>A" "" "pathogenic" "" "0000152177" "0" "10" "X" "107829907" "107829907" "subst" "0.0442794" "00687" "COL4A5_000402" "g.107829907G>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.108586677G>C" "" "benign" "" "0000152178" "0" "90" "X" "107829924" "107829924" "subst" "0" "00687" "COL4A5_001057" "g.107829924G>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.108586694G>T" "" "pathogenic" "" "0000152179" "0" "10" "X" "107829929" "107829929" "subst" "0" "00687" "COL4A5_001058" "g.107829929C>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.108586699C>A" "" "benign" "" "0000152180" "0" "90" "X" "107829929" "107829929" "subst" "0" "00687" "COL4A5_000043" "g.107829929C>T" "" "ARUP" "" "CGA>TGA" "" "Germline" "" "" "0" "" "" "g.108586699C>T" "" "pathogenic" "" "0000152181" "0" "90" "X" "107829933" "107829933" "subst" "0" "00687" "COL4A5_001059" "g.107829933G>A" "" "Matonagel" "" "" "Auf selbem Codon bereits eine Glycinmutation beschrieben PMID 8651296" "Germline" "" "" "0" "" "" "g.108586703G>A" "" "pathogenic" "" "0000152182" "0" "90" "X" "107829933" "107829933" "subst" "0" "00687" "COL4A5_001060" "g.107829933G>T" "" "Hae Il et al" "" "GGA>GTA" "" "Germline" "" "" "0" "" "" "g.108586703G>T" "" "pathogenic" "" "0000152183" "0" "90" "X" "107829942" "107829942" "subst" "0" "00687" "COL4A5_001060" "g.107829942G>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.108586712G>T" "" "pathogenic" "" "0000152184" "0" "90" "X" "107829942" "107829942" "subst" "0" "00687" "COL4A5_001060" "g.107829942G>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.108586712G>T" "" "pathogenic" "" "0000152185" "0" "90" "X" "107829950" "107829950" "subst" "0" "00687" "COL4A5_001061" "g.107829950G>C" "" "Heidet" "" "GGT>CGT" "" "Germline" "" "" "0" "" "" "g.108586720G>C" "" "pathogenic" "" "0000152186" "0" "90" "X" "107829950" "107829950" "subst" "0" "00687" "COL4A5_001062" "g.107829950G>T" "" "Fundacio_Puigvert" "" "gGGT>gTGT" "" "Germline" "" "" "0" "" "" "g.108586720G>T" "" "pathogenic" "" "0000152187" "0" "90" "X" "107829966" "107829966" "del" "0" "00687" "COL4A5_001063" "g.107829966del" "" "Heidet" "" "CCT>CTG" "" "Germline" "" "" "0" "" "" "g.108586736del" "" "pathogenic" "" "0000152188" "0" "90" "X" "107829978" "107829978" "subst" "0" "00687" "COL4A5_000245" "g.107829978G>A" "" "Hae Il et al" "" "IVS19+1G>A" "" "Germline" "" "" "0" "" "" "g.108586748G>A" "" "pathogenic" "" "0000152189" "0" "70" "X" "107829979" "107829979" "subst" "0" "00687" "COL4A5_001064" "g.107829979T>C" "" "Heidet" "" "IVS19+2T>C" "" "Germline" "" "" "0" "" "" "g.108586749T>C" "" "likely pathogenic" "" "0000152190" "0" "70" "X" "107829980" "107829980" "subst" "0" "00687" "COL4A5_001065" "g.107829980A>T" "" "Heidet" "" "IVS19+3A>T" "" "Germline" "" "" "0" "" "" "g.108586750A>T" "" "likely pathogenic" "" "0000152191" "0" "90" "X" "107834287" "107834875" "del" "0" "00687" "COL4A5_000667" "g.(107829978_107834287)_(107834875_107838738)del" "" "Heidet" "" "Ex20_21del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152192" "0" "90" "X" "107834287" "107838832" "del" "0" "00687" "COL4A5_000668" "g.(107829978_107834287)_(107838832_107840227)del" "" "Matonagel" "" "Ex20_21del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152193" "0" "90" "X" "107834287" "107838832" "del" "0" "00687" "COL4A5_000668" "g.(107829978_107834287)_(107838832_107840227)del" "" "ARUP" "" "Ex20_22del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152194" "0" "90" "X" "107834287" "107939609" "del" "0" "00687" "COL4A5_001068" "g.(107829978_107834287)_(107939609_?)del" "" "Matonagel" "" "Ex20_53del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152195" "0" "90" "X" "107834308" "107834308" "subst" "0" "00687" "COL4A5_001069" "g.107834308C>G" "" "Matonagel" "" "CCT>GCT" "" "Germline" "" "" "0" "" "" "g.108591078C>G" "" "pathogenic" "" "0000152196" "0" "90" "X" "107834309" "107834309" "subst" "0.000128933" "00687" "COL4A5_000796" "g.107834309C>T" "" "Matonagel" "" "CCT>CTT" "" "Germline" "" "" "0" "" "" "g.108591079C>T" "" "pathogenic" "" "0000152197" "0" "90" "X" "107834312" "107834312" "subst" "0" "00687" "COL4A5_001070" "g.107834312G>A" "" "Matonagel" "" "GGC>GAC" "" "Germline" "" "" "0" "" "" "g.108591082G>A" "" "pathogenic" "" "0000152198" "0" "90" "X" "107834321" "107834321" "subst" "0" "00687" "COL4A5_001071" "g.107834321G>T" "" "Hae Il et al" "" "GGA>GTA" "" "Germline" "" "" "0" "" "" "g.108591091G>T" "" "pathogenic" "" "0000152199" "0" "90" "X" "107834321" "107834321" "subst" "0" "00687" "COL4A5_001071" "g.107834321G>T" "" "Hae Il et al" "" "GGA>GTA" "" "Germline" "" "" "0" "" "" "g.108591091G>T" "" "pathogenic" "" "0000152200" "0" "90" "X" "107834325" "107834325" "del" "0" "00687" "COL4A5_001072" "g.107834325del" "" "Fundacio_Puigvert" "" "CCT>CTG" "" "Germline" "" "" "0" "" "" "g.108591095del" "" "pathogenic" "" "0000152201" "0" "90" "X" "107834335" "107834335" "dup" "0" "00687" "COL4A5_000353" "g.107834335dup" "" "Heidet" "" "1213_1214InsA" "" "Germline" "" "" "0" "" "" "g.108591105dup" "" "pathogenic" "" "0000152202" "0" "90" "X" "107834338" "107834338" "subst" "0" "00687" "COL4A5_001074" "g.107834338G>T" "" "Heidet" "" "GGT>TGT" "" "Germline" "" "" "0" "" "" "g.108591108G>T" "" "pathogenic" "" "0000152203" "0" "90" "X" "107834339" "107834339" "subst" "0" "00687" "COL4A5_000048" "g.107834339G>T" "" "Hae Il et al" "" "GGT>GTT" "" "Germline" "" "" "0" "" "" "g.108591109G>T" "" "pathogenic" "" "0000152204" "0" "90" "X" "107834348" "107834348" "subst" "0" "00687" "COL4A5_001075" "g.107834348G>T" "" "Matonagel" "" "GGT>GTT" "An der selben Codonposition bereits eine Mutation beschrieben (p.G409D c.1226G>A)[PMID 8651296]" "Germline" "" "" "0" "" "" "g.108591118G>T" "" "pathogenic" "" "0000152205" "0" "90" "X" "107834376" "107834376" "del" "0" "00687" "COL4A5_000636" "g.107834376del" "" "Matonagel" "" "1253delT" "" "Germline" "" "" "0" "" "" "g.108591146del" "" "pathogenic" "" "0000152206" "0" "90" "X" "107834380" "107834380" "subst" "0" "00687" "COL4A5_001077" "g.107834380G>A" "" "Heidet" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108591150G>A" "" "pathogenic" "" "0000152207" "0" "90" "X" "107834398" "107834398" "subst" "0" "00687" "COL4A5_000056" "g.107834398G>A" "" "Heidet" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108591168G>A" "" "pathogenic" "" "0000152208" "0" "90" "X" "107834399" "107834399" "subst" "0" "00687" "COL4A5_001078" "g.107834399G>A" "" "Heidet" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108591169G>A" "" "pathogenic" "" "0000152209" "0" "90" "X" "107834401" "107834408" "del" "0" "00687" "COL4A5_001079" "g.107834401_107834408del" "" "Matonagel" "" "1279_1286delCAG CCT GG" "" "Germline" "" "" "0" "" "" "g.108591171_108591178del" "" "pathogenic" "" "0000152210" "0" "90" "X" "107834408" "107834408" "subst" "0" "00687" "COL4A5_000057" "g.107834408G>A" "" "ARUP" "" "GGG>GAG" "" "Germline" "" "" "0" "" "" "g.108591178G>A" "" "pathogenic" "" "0000152211" "0" "90" "X" "107834411" "107834411" "subst" "0.00478917" "00687" "COL4A5_000403" "g.107834411C>A" "" "Matonagel" "" "GCT>GAT" "" "Germline" "" "" "0" "" "" "g.108591181C>A" "" "pathogenic" "" "0000152212" "0" "90" "X" "107834411" "107834411" "del" "0" "00687" "COL4A5_001080" "g.107834411del" "" "Matonagel" "" "1289delC" "" "Germline" "" "" "0" "" "" "g.108591181del" "" "pathogenic" "" "0000152213" "0" "90" "X" "107834435" "107834435" "del" "0" "00687" "COL4A5_001081" "g.107834435del" "" "Matonagel" "" "1312delG" "" "Germline" "" "" "0" "" "" "g.108591205del" "" "pathogenic" "" "0000152214" "0" "90" "X" "107834434" "107834434" "subst" "0" "00687" "COL4A5_001082" "g.107834434G>C" "" "Heidet" "" "GGC>CGC" "" "Germline" "" "" "0" "" "" "g.108591204G>C" "" "pathogenic" "" "0000152215" "0" "90" "X" "107834453" "107834453" "subst" "0.0434731" "00687" "COL4A5_000404" "g.107834453T>G" "" "Matonagel" "" "ATT>AGT" "" "Germline" "" "" "0" "" "" "g.108591223T>G" "" "pathogenic" "" "0000152216" "0" "90" "X" "107834463" "107834463" "subst" "0" "00687" "COL4A5_001083" "g.107834463T>G" "" "Heidet" "" "IVS20+2T>G" "" "Germline" "" "" "0" "" "" "g.108591233T>G" "" "pathogenic" "" "0000152217" "0" "90" "X" "107834789" "107834789" "subst" "0" "00687" "COL4A5_000247" "g.107834789A>G" "" "Hae Il et al" "" "IVS20-2A>G" "" "Germline" "" "" "0" "" "" "g.108591559A>G" "" "pathogenic" "" "0000152218" "0" "90" "X" "107834816" "107834824" "del" "0" "00687" "COL4A5_000282" "g.107834816_107834824del" "" "Hae Il et al" "" "1357_1365delCCAGGCCCT" "" "Germline" "" "" "0" "" "" "g.108591586_108591594del" "" "pathogenic" "" "0000152219" "0" "90" "X" "107834816" "107834824" "del" "0" "00687" "COL4A5_000282" "g.107834816_107834824del" "" "Matonagel" "" "1357_1365delCCAGGCCCT" "A similar 9 nucleotide deletion has been describe at the next nucleotides downstream [PMID 8651296]" "Germline" "" "" "0" "" "" "g.108591586_108591594del" "" "pathogenic" "" "0000152220" "0" "90" "X" "107834820" "107834820" "subst" "0" "00687" "COL4A5_001085" "g.107834820G>C" "" "Matonagel" "" "GGC>CGC" "" "Germline" "" "" "0" "" "" "g.108591590G>C" "" "pathogenic" "" "0000152221" "0" "90" "X" "107834827" "107834827" "dup" "0" "00687" "COL4A5_000762" "g.107834827dup" "" "Matonagel" "" "1371insC GGA>AGG" "" "Germline" "" "" "0" "" "" "g.108591597dup" "" "pathogenic" "" "0000152222" "0" "90" "X" "107834841" "107834841" "subst" "0" "00687" "COL4A5_001087" "g.107834841G>A" "" "Matonagel" "" "GAT>AAT" "" "Germline" "" "" "0" "" "" "g.108591611G>A" "" "pathogenic" "" "0000152223" "0" "90" "X" "107834848" "107834848" "subst" "0" "00687" "COL4A5_000058" "g.107834848G>A" "" "Heidet" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108591618G>A" "" "pathogenic" "" "0000152224" "0" "90" "X" "107834857" "107834857" "subst" "0" "00687" "COL4A5_000059" "g.107834857G>A" "" "Matonagel" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108591627G>A" "" "pathogenic" "" "0000152225" "0" "90" "X" "107834874" "107834874" "subst" "0" "00687" "COL4A5_000756" "g.107834874G>A" "" "Matonagel" "" "aGGT-AGT" "" "Germline" "" "" "0" "" "" "g.108591644G>A" "" "pathogenic" "" "0000152226" "0" "70" "X" "107834875" "107834875" "subst" "0" "00687" "COL4A5_000248" "g.107834875G>A" "" "Matonagel" "" "IVS21+1" "" "Germline" "" "" "0" "" "" "g.108591645G>A" "" "likely pathogenic" "" "0000152227" "0" "90" "X" "107834875" "107834875" "subst" "0" "00687" "COL4A5_001088" "g.107834875G>T" "" "Matonagel" "" "IVS21+1G>T" "" "Germline" "" "" "0" "" "" "g.108591645G>T" "" "pathogenic" "" "0000152228" "0" "50" "X" "107838735" "107838735" "subst" "0" "00687" "COL4A5_001089" "g.107838735C>G" "" "ARUP" "" "IVS21-4C>G" "" "Germline" "" "" "0" "" "" "g.108595505C>G" "" "VUS" "" "0000152229" "0" "90" "X" "107838738" "107846292" "" "0" "00687" "COL4A5_001090" "g.(107834875_107838738)_(107846292_107849971)del" "" "Hae Il et al" "" "Ex22_28del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152230" "0" "90" "X" "107838771" "107838771" "subst" "0" "00687" "COL4A5_001091" "g.107838771G>T" "" "Matonagel" "" "GGA>TGA" "" "Germline" "" "" "0" "" "" "g.108595541G>T" "" "pathogenic" "" "0000152231" "0" "90" "X" "107838813" "107838813" "subst" "0" "00687" "COL4A5_000064" "g.107838813G>C" "" "Matonagel" "" "aGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108595583G>C" "" "pathogenic" "" "0000152232" "0" "90" "X" "107838813" "107838813" "subst" "0" "00687" "COL4A5_000064" "g.107838813G>C" "" "Matonagel" "" "aGGT-CGT" "" "Germline" "" "" "0" "" "" "g.108595583G>C" "" "pathogenic" "" "0000152233" "0" "90" "X" "107838822" "107838822" "subst" "0" "00687" "COL4A5_001092" "g.107838822G>C" "" "Matonagel" "" "GGT>CGT" "" "Germline" "" "" "0" "" "" "g.108595592G>C" "" "pathogenic" "" "0000152234" "0" "90" "X" "107838831" "107838831" "subst" "0" "00687" "COL4A5_001093" "g.107838831G>A" "" "Heidet" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108595601G>A" "" "pathogenic" "" "0000152235" "0" "90" "X" "107838832" "107838832" "subst" "0" "00687" "COL4A5_001094" "g.107838832G>C" "" "Matonagel" "" "IVS22+1G>C" "" "Germline" "" "" "0" "" "" "g.108595602G>C" "" "pathogenic" "" "0000152236" "0" "90" "X" "107840227" "107840799" "del" "0" "00687" "COL4A5_001095" "g.(107838832_107840227)_(107840799_107841931)del" "" "Matonagel" "" "Ex23_24del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152237" "0" "90" "X" "107840248" "107840248" "subst" "0" "00687" "COL4A5_001096" "g.107840248C>T" "" "Heidet" "" "CAG>TAG" "" "Germline" "" "" "0" "" "" "g.108597018C>T" "" "pathogenic" "" "0000152238" "0" "90" "X" "107840248" "107840248" "subst" "0" "00687" "COL4A5_001096" "g.107840248C>T" "" "ARUP" "" "CAG>TAG" "" "Germline" "" "" "0" "" "" "g.108597018C>T" "" "pathogenic" "" "0000152239" "0" "90" "X" "107840254" "107840254" "subst" "0" "00687" "COL4A5_001098" "g.107840254G>A" "" "Heidet" "" "GGG>AGA" "" "Germline" "" "" "0" "" "" "g.108597024G>A" "" "pathogenic" "" "0000152240" "0" "90" "X" "107840254" "107840254" "subst" "0" "00687" "COL4A5_001099" "g.107840254G>T" "" "Hae Il et al" "" "GGG>TGG" "" "Germline" "" "" "0" "" "" "g.108597024G>T" "" "pathogenic" "" "0000152241" "0" "90" "X" "107840273" "107840273" "subst" "0" "00687" "COL4A5_000427" "g.107840273G>A" "" "Matonagel" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108597043G>A" "" "pathogenic" "" "0000152242" "0" "90" "X" "107840281" "107840281" "subst" "0" "00687" "COL4A5_001100" "g.107840281G>T" "" "Matonagel" "" "GGT>TGT" "" "Germline" "" "" "0" "" "" "g.108597051G>T" "" "pathogenic" "" "0000152243" "0" "90" "X" "107840291" "107840291" "subst" "0" "00687" "COL4A5_000970" "g.107840291G>A" "" "Hae Il et al" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108597061G>A" "" "pathogenic" "" "0000152244" "0" "70" "X" "107840299" "107840299" "subst" "0" "00687" "COL4A5_000249" "g.107840299G>A" "" "Matonagel" "" "IVS23+1" "" "Germline" "" "" "0" "" "" "g.108597069G>A" "" "likely pathogenic" "" "0000152245" "0" "90" "X" "107840606" "107840606" "subst" "0" "00687" "COL4A5_001101" "g.107840606G>T" "" "Hae Il et al" "" "IVS23-1G>T" "" "Germline" "" "" "0" "" "" "g.108597376G>T" "" "pathogenic" "" "0000152246" "0" "10" "X" "107840575" "107840575" "subst" "0" "00687" "COL4A5_001102" "g.107840575C>G" "" "Heidet" "" "IVS23-32C>G" "" "Germline" "" "" "0" "" "" "g.108597345C>G" "" "benign" "" "0000152247" "0" "90" "X" "107840616" "107840616" "subst" "0" "00687" "COL4A5_001103" "g.107840616G>T" "" "Matonagel" "" "GGA>TGA" "" "Germline" "" "" "0" "" "" "g.108597386G>T" "" "pathogenic" "" "0000152248" "0" "90" "X" "107840617" "107840617" "subst" "0" "00687" "COL4A5_000568" "g.107840617G>A" "" "Matonagel" "" "GGA-GAA" "" "Germline" "" "" "0" "" "" "g.108597387G>A" "" "pathogenic" "" "0000152249" "0" "90" "X" "107840634" "107840634" "subst" "0" "00687" "COL4A5_000068" "g.107840634G>C" "" "Heidet" "" "GGC>CGC" "" "Germline" "" "" "0" "" "" "g.108597404G>C" "" "pathogenic" "" "0000152250" "0" "90" "X" "107840692" "107840692" "del" "0" "00687" "COL4A5_001104" "g.107840692del" "" "Heidet" "" "GGT>GTg" "" "Germline" "" "" "0" "" "" "g.108597462del" "" "pathogenic" "" "0000152251" "0" "90" "X" "107840692" "107840692" "subst" "0" "00687" "COL4A5_000766" "g.107840692G>A" "" "Matonagel" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108597462G>A" "" "pathogenic" "" "0000152252" "0" "90" "X" "107840699" "107840699" "del" "0" "00687" "COL4A5_001105" "g.107840699del" "" "Heidet" "" "AAA>AAg" "" "Germline" "" "" "0" "" "" "g.108597469del" "" "pathogenic" "" "0000152253" "0" "90" "X" "107840700" "107840700" "subst" "0" "00687" "COL4A5_000071" "g.107840700G>A" "" "Heidet" "" "aGGA-AGA" "" "Germline" "" "" "0" "" "" "g.108597470G>A" "" "pathogenic" "" "0000152254" "0" "90" "X" "107840728" "107840728" "subst" "0" "00687" "COL4A5_001106" "g.107840728G>A" "" "ARUP" "" "GGG>GAG" "" "Germline" "" "" "0" "" "" "g.108597498G>A" "" "pathogenic" "" "0000152255" "0" "90" "X" "107840728" "107840728" "subst" "0" "00687" "COL4A5_001106" "g.107840728G>A" "" "Matonagel" "" "GGG>GAG" "" "Germline" "" "" "0" "" "" "g.108597498G>A" "" "pathogenic" "" "0000152256" "0" "10" "X" "107840729" "107840729" "subst" "0" "00687" "COL4A5_001107" "g.107840729G>T" "" "Matonagel" "" "GGG>GGT" "" "Germline" "" "" "0" "" "" "g.108597499G>T" "" "benign" "" "0000152257" "0" "70" "X" "107840791" "107840793" "del" "0" "00687" "COL4A5_001108" "g.107840791_107840793del" "" "Heidet" "" "1771_1773delGGA" "" "Germline" "" "" "0" "" "" "g.108597561_108597563del" "" "likely pathogenic" "" "0000152258" "0" "90" "X" "107840799" "107840799" "subst" "0" "00687" "COL4A5_001109" "g.107840799G>A" "" "Matonagel" "" "IVS24+1G>A" "" "Germline" "" "" "0" "" "" "g.108597569G>A" "" "pathogenic" "" "0000152259" "0" "70" "X" "107840800" "107840800" "dup" "0" "00687" "COL4A5_001110" "g.107840800dup" "" "Heidet" "" "IVS24+2insT" "" "Germline" "" "" "0" "" "" "g.108597570dup" "" "likely pathogenic" "" "0000152260" "0" "70" "X" "107840801" "107840801" "subst" "0" "00687" "COL4A5_000731" "g.107840801G>C" "" "Hae Il et al" "" "IVS24+3G>C" "" "Germline" "" "" "0" "" "" "g.108597571G>C" "" "likely pathogenic" "" "0000152261" "0" "70" "X" "107840802" "107840806" "del" "0" "00687" "COL4A5_001111" "g.107840802_107840806del" "" "Hae Il et al" "" "IVS24+4_8delAGTTG" "" "Germline" "" "" "0" "" "" "g.108597572_108597576del" "" "likely pathogenic" "" "0000152262" "0" "70" "X" "107840803" "107840803" "subst" "0" "00687" "COL4A5_001112" "g.107840803G>T" "" "Matonagel" "" "IVS24+5G>T" "" "Germline" "" "" "0" "" "" "g.108597573G>T" "" "likely pathogenic" "" "0000152263" "0" "90" "X" "107841933" "107841933" "subst" "0" "00687" "COL4A5_001113" "g.107841933G>A" "" "Matonagel" "" "GGT>GAT" "An other missense mutation has been described at the same codon position [PMID 11462238]" "Germline" "" "" "0" "" "" "g.108598703G>A" "" "pathogenic" "" "0000152264" "0" "10" "X" "107841937" "107841937" "subst" "0" "00687" "COL4A5_001114" "g.107841937A>G" "" "Matonagel" "" "GGA>GGG" "" "Germline" "" "" "0" "" "" "g.108598707A>G" "" "benign" "" "0000152265" "0" "90" "X" "107841968" "107841968" "subst" "0" "00687" "COL4A5_001115" "g.107841968G>A" "" "Fundacio_Puigvert" "" "GGG>AGG" "" "Germline" "" "" "0" "" "" "g.108598738G>A" "" "pathogenic" "" "0000152266" "0" "90" "X" "107841978" "107841978" "subst" "0" "00687" "COL4A5_001116" "g.107841978G>A" "" "Heidet" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108598748G>A" "" "pathogenic" "" "0000152267" "0" "90" "X" "107841978" "107841978" "subst" "0" "00687" "COL4A5_000081" "g.107841978G>T" "" "Heidet" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108598748G>T" "" "pathogenic" "" "0000152268" "0" "90" "X" "107841996" "107841996" "subst" "0" "00687" "COL4A5_001117" "g.107841996G>T" "" "Heidet" "" "GGG>GTG" "" "Germline" "" "" "0" "" "" "g.108598766G>T" "" "pathogenic" "" "0000152269" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "Matonagel" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000152270" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "Matonagel" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000152271" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "ARUP" "" "GGT-GAT" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000152272" "0" "90" "X" "107842037" "107842037" "subst" "0" "00687" "COL4A5_001118" "g.107842037G>A" "" "Fundacio_Puigvert" "" "GGC>AGC" "" "Germline" "" "" "0" "" "" "g.108598807G>A" "" "pathogenic" "" "0000152273" "0" "90" "X" "107842038" "107842038" "subst" "0" "00687" "COL4A5_000086" "g.107842038G>A" "" "Heidet" "" "GGC-GAC" "" "Germline" "" "" "0" "" "" "g.108598808G>A" "" "pathogenic" "" "0000152274" "0" "90" "X" "107842046" "107842046" "subst" "0" "00687" "COL4A5_001119" "g.107842046G>A" "" "Heidet" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108598816G>A" "" "pathogenic" "" "0000152275" "0" "90" "X" "107842055" "107842055" "subst" "0" "00687" "COL4A5_001120" "g.107842055G>A" "" "Hae Il et al" "" "1900G>A" "" "Germline" "" "" "0" "" "" "g.108598825G>A" "" "pathogenic" "" "0000152276" "0" "90" "X" "107842083" "107842083" "subst" "0" "00687" "COL4A5_001121" "g.107842083G>A" "" "Heidet" "" "GGC>GAC" "" "Germline" "" "" "0" "" "" "g.108598853G>A" "" "pathogenic" "" "0000152277" "0" "90" "X" "107842093" "107842101" "del" "0" "00687" "COL4A5_001122" "g.107842093_107842101del" "" "Hae Il et al" "" "1940_1948delGAATACCAG" "" "Germline" "" "" "0" "" "" "g.108598863_108598871del" "" "pathogenic" "" "0000152278" "0" "90" "X" "107842100" "107842100" "subst" "0" "00687" "COL4A5_001123" "g.107842100G>C" "" "Matonagel" "" "GGT>CGT" "" "Germline" "" "" "0" "" "" "g.108598870G>C" "" "pathogenic" "" "0000152279" "0" "90" "X" "107842099" "107842099" "subst" "0" "00687" "COL4A5_001124" "g.107842099G>T" "" "Matonagel" "" "IVS25-1G>T" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108598869G>T" "" "pathogenic" "" "0000152280" "0" "90" "X" "107844623" "107844623" "subst" "0" "00687" "COL4A5_001125" "g.107844623G>A" "" "ARUP" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108601393G>A" "" "pathogenic" "" "0000152281" "0" "90" "X" "107844623" "107844623" "subst" "0" "00687" "COL4A5_001125" "g.107844623G>A" "" "ARUP" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108601393G>A" "" "pathogenic" "" "0000152282" "0" "90" "X" "107844623" "107844623" "subst" "0" "00687" "COL4A5_001125" "g.107844623G>A" "" "ARUP" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108601393G>A" "" "pathogenic" "" "0000152283" "0" "90" "X" "107844643" "107844643" "subst" "0" "00687" "COL4A5_001126" "g.107844643C>A" "" "Matonagel" "" "CAG>AAG" "" "Germline" "" "" "0" "" "" "g.108601413C>A" "" "pathogenic" "" "0000152284" "0" "90" "X" "107844666" "107844666" "subst" "0.00798301" "00687" "COL4A5_000002" "g.107844666G>T" "" "Matonagel" "" "AAG>AAT" "" "Germline" "" "" "0" "" "" "g.108601436G>T" "" "pathogenic" "" "0000152285" "0" "90" "X" "107844666" "107844666" "subst" "0.00798301" "00687" "COL4A5_000002" "g.107844666G>T" "" "Matonagel" "" "AAG>AAT" "unter Asiaten und Afrianern h‰ufig (50%)" "Germline" "" "" "0" "" "" "g.108601436G>T" "" "pathogenic" "" "0000152286" "0" "90" "X" "107844671" "107844671" "subst" "0" "00687" "COL4A5_000428" "g.107844671G>A" "" "Matonagel" "" "GGC>GAC" "" "Germline" "" "" "0" "" "" "g.108601441G>A" "" "pathogenic" "" "0000152287" "0" "90" "X" "107844694" "107844700" "dup" "0" "00687" "COL4A5_001127" "g.107844694_107844700dup" "" "ARUP" "" "2020_2026dup" "" "Germline" "" "" "0" "" "" "g.108601464_108601470dup" "" "pathogenic" "" "0000152288" "0" "90" "X" "107844697" "107844697" "subst" "0" "00687" "COL4A5_000095" "g.107844697G>A" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108601467G>A" "" "pathogenic" "" "0000152289" "0" "90" "X" "107844697" "107844697" "subst" "0" "00687" "COL4A5_000095" "g.107844697G>A" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108601467G>A" "" "pathogenic" "" "0000152290" "0" "90" "X" "107844706" "107844706" "subst" "0" "00687" "COL4A5_001128" "g.107844706G>T" "" "ARUP" "" "GGT>TGT" "" "Germline" "" "" "0" "" "" "g.108601476G>T" "" "pathogenic" "" "0000152291" "0" "90" "X" "107844716" "107844716" "subst" "0" "00687" "COL4A5_000251" "g.107844716G>A" "" "Heidet" "" "IVS26+1G>A" "" "Germline" "" "" "0" "" "" "g.108601486G>A" "" "pathogenic" "" "0000152292" "0" "90" "X" "107844716" "107844716" "subst" "0" "00687" "COL4A5_000251" "g.107844716G>A" "" "ARUP" "" "IVS26+1G>A" "" "Germline" "" "" "0" "" "" "g.108601486G>A" "" "pathogenic" "" "0000152293" "0" "90" "X" "107845115" "107845115" "subst" "0" "00687" "COL4A5_000096" "g.107845115G>A" "" "Matonagel" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108601885G>A" "" "pathogenic" "" "0000152294" "0" "90" "X" "107845121" "107845123" "del" "0" "00687" "COL4A5_001129" "g.107845121_107845123del" "" "Matonagel" "" "2048_2050delCTG" "" "Germline" "" "" "0" "" "" "g.108601891_108601893del" "" "pathogenic" "" "0000152295" "0" "10" "X" "107845128" "107845128" "subst" "0.0431482" "00687" "COL4A5_000408" "g.107845128T>C" "" "Matonagel" "" "CTT>CTC" "" "Germline" "" "" "0" "" "" "g.108601898T>C" "" "benign" "" "0000152296" "0" "90" "X" "107845132" "107845132" "subst" "0" "00687" "COL4A5_001130" "g.107845132G>A" "" "Fundacio_Puigvert" "" "GGG>AGG" "" "Germline" "" "" "0" "" "" "g.108601902G>A" "" "pathogenic" "" "0000152297" "0" "90" "X" "107845141" "107845141" "subst" "0" "00687" "COL4A5_001131" "g.107845141G>A" "" "Heidet" "" "GGC>AGC" "" "Germline" "" "" "0" "" "" "g.108601911G>A" "" "pathogenic" "" "0000152298" "0" "90" "X" "107845168" "107845168" "subst" "0" "00687" "COL4A5_001132" "g.107845168G>A" "" "Hae Il et al" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108601938G>A" "" "pathogenic" "" "0000152299" "0" "90" "X" "107845210" "107845210" "subst" "0" "00687" "COL4A5_001133" "g.107845210G>A" "" "Heidet" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108601980G>A" "" "pathogenic" "" "0000152300" "0" "90" "X" "107846193" "107846193" "subst" "0" "00687" "COL4A5_001134" "g.107846193G>C" "" "Matonagel" "" "IVS27-1G>C" "" "Germline" "" "" "0" "" "" "g.108602963G>C" "" "pathogenic" "" "0000152301" "0" "90" "X" "107846193" "107846193" "subst" "0" "00687" "COL4A5_001135" "g.107846193G>T" "" "Matonagel" "" "IVS27-1G>T" "" "Germline" "" "" "0" "" "" "g.108602963G>T" "" "pathogenic" "" "0000152302" "0" "90" "X" "107846239" "107846239" "del" "0" "00687" "COL4A5_001136" "g.107846239del" "" "Heidet" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108603009del" "" "pathogenic" "" "0000152303" "0" "90" "X" "107846253" "107846253" "subst" "0" "00687" "COL4A5_001137" "g.107846253G>T" "" "Fundacio_Puigvert" "" "GAA>TAA" "" "Germline" "" "" "0" "" "" "g.108603023G>T" "" "pathogenic" "" "0000152304" "0" "90" "X" "107846257" "107846257" "subst" "0" "00687" "COL4A5_001138" "g.107846257G>A" "" "Matonagel" "" "GGC>GAC" "" "Germline" "" "" "0" "" "" "g.108603027G>A" "" "pathogenic" "" "0000152305" "0" "90" "X" "107846291" "107846291" "subst" "0" "00687" "COL4A5_001139" "g.107846291G>T" "" "Matonagel" "" "AAG>AAT" "" "Germline" "" "" "0" "" "" "g.108603061G>T" "" "pathogenic" "" "0000152306" "0" "90" "X" "107846292" "107846292" "subst" "0" "00687" "COL4A5_000253" "g.107846292G>A" "" "Carmen Fernandes" "" "IVS28+1G>A" "" "Germline" "" "" "0" "" "" "g.108603062G>A" "" "pathogenic" "" "0000152307" "0" "90" "X" "107846292" "107846292" "subst" "0" "00687" "COL4A5_000253" "g.107846292G>A" "" "Hae Il et al" "" "IVS28+1 G>A" "" "Germline" "" "" "0" "" "" "g.108603062G>A" "" "pathogenic" "" "0000152308" "0" "90" "X" "107846292" "107846292" "subst" "0" "00687" "COL4A5_001140" "g.107846292G>C" "" "Heidet" "" "INS28+1G>C" "" "Germline" "" "" "0" "" "" "g.108603062G>C" "" "pathogenic" "" "0000152309" "0" "90" "X" "107846292" "107846292" "subst" "0" "00687" "COL4A5_000755" "g.107846292G>T" "" "Heidet" "" "IVS28+1G>T" "" "Germline" "" "" "0" "" "" "g.108603062G>T" "" "pathogenic" "" "0000152310" "0" "90" "X" "107849971" "107849971" "subst" "0" "00687" "COL4A5_000254" "g.107849971G>A" "" "Matonagel" "" "IVS28-1G>A" "" "Germline" "" "" "0" "" "" "g.108606741G>A" "" "pathogenic" "" "0000152311" "0" "90" "X" "107849971" "107858255" "del" "0" "00687" "COL4A5_001141" "g.(_(107846292_107849971)_107849971)_(107858255_107863488)dup" "" "Matonagel" "" "2245_2509dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152312" "0" "99" "X" "107849971" "107863657" "" "0" "00687" "COL4A5_001142" "g.(107846292_107849971)_(107863657_107865032)del" "" "Matonagel" "" "Ex29_Ex31del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152313" "0" "90" "X" "107849972" "107849972" "subst" "0" "00687" "COL4A5_001143" "g.107849972G>C" "" "Matonagel" "" "GGT>CGT" "" "Germline" "" "" "0" "" "" "g.108606742G>C" "" "pathogenic" "" "0000152314" "0" "90" "X" "107849982" "107849982" "subst" "0" "00687" "COL4A5_001144" "g.107849982G>A" "" "Matonagel" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108606752G>A" "" "pathogenic" "" "0000152315" "0" "90" "X" "107850014" "107850014" "subst" "0" "00687" "COL4A5_000106" "g.107850014G>A" "" "Matonagel" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108606784G>A" "" "pathogenic" "" "0000152316" "0" "90" "X" "107850015" "107850015" "subst" "0" "00687" "COL4A5_000573" "g.107850015G>A" "" "Matonagel" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108606785G>A" "" "pathogenic" "" "0000152317" "0" "90" "X" "107850021" "107850021" "del" "0" "00687" "COL4A5_001145" "g.107850021del" "" "Matonagel" "" "2294delC" "" "Germline" "" "" "0" "" "" "g.108606791del" "" "pathogenic" "" "0000152318" "0" "90" "X" "107850024" "107850024" "subst" "0" "00687" "COL4A5_001146" "g.107850024G>T" "" "Hae Il et al" "" "GGT>GTT" "" "Germline" "" "" "0" "" "" "g.108606794G>T" "" "pathogenic" "" "0000152319" "0" "90" "X" "107850035" "107850035" "subst" "0" "00687" "COL4A5_001147" "g.107850035G>C" "" "Heidet" "" "GCA>CCA" "" "Germline" "" "" "0" "" "" "g.108606805G>C" "" "pathogenic" "" "0000152320" "0" "10" "X" "107850076" "107850076" "subst" "0.0438653" "00687" "COL4A5_000409" "g.107850076G>A" "" "Matonagel" "" "CCG>CCA" "" "Germline" "" "" "0" "" "" "g.108606846G>A" "" "benign" "" "0000152321" "0" "90" "X" "107850113" "107850113" "subst" "0" "00687" "COL4A5_000110" "g.107850113G>A" "" "Matonagel" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108606883G>A" "" "pathogenic" "" "0000152322" "0" "90" "X" "107858141" "107858141" "subst" "0" "00687" "COL4A5_001148" "g.107858141G>A" "" "ARUP" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108614911G>A" "" "pathogenic" "" "0000152323" "0" "90" "X" "107858141" "107858141" "subst" "0" "00687" "COL4A5_001148" "g.107858141G>A" "" "ARUP" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108614911G>A" "" "pathogenic" "" "0000152324" "0" "90" "X" "107858141" "107858141" "subst" "0" "00687" "COL4A5_001148" "g.107858141G>A" "" "Matonagel" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108614911G>A" "" "pathogenic" "" "0000152325" "0" "90" "X" "107858141" "107858141" "subst" "0" "00687" "COL4A5_001149" "g.107858141G>T" "" "Fundacio_Puigvert" "" "GGT>GTT" "" "Germline" "" "" "0" "" "" "g.108614911G>T" "" "pathogenic" "" "0000152326" "0" "90" "X" "107858159" "107858159" "subst" "0" "00687" "COL4A5_001150" "g.107858159G>T" "" "Heidet" "" "GGA>GTA" "" "Germline" "" "" "0" "" "" "g.108614929G>T" "" "pathogenic" "" "0000152327" "0" "90" "X" "107858161" "107858161" "subst" "0" "00687" "COL4A5_001151" "g.107858161C>T" "" "Fundacio_Puigvert" "" "CAA>TAA" "" "Germline" "" "" "0" "" "" "g.108614931C>T" "" "pathogenic" "" "0000152328" "0" "90" "X" "107858185" "107858185" "subst" "0" "00687" "COL4A5_001152" "g.107858185G>A" "" "Hae Il et al" "" "GGG>AGG" "" "Germline" "" "" "0" "" "" "g.108614955G>A" "" "pathogenic" "" "0000152329" "0" "90" "X" "107858186" "107858186" "subst" "0" "00687" "COL4A5_001153" "g.107858186G>A" "" "Heidet" "" "GGA>GAG" "" "Germline" "" "" "0" "" "" "g.108614956G>A" "" "pathogenic" "" "0000152330" "0" "90" "X" "107858209" "107858209" "subst" "0" "00687" "COL4A5_000114" "g.107858209G>A" "" "Heidet" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108614979G>A" "" "pathogenic" "" "0000152331" "0" "90" "X" "107858210" "107858210" "subst" "0" "00687" "COL4A5_001154" "g.107858210G>T" "" "Matonagel" "" "GGA>GTA" "A missense mutation has already been described at the same codon position [PMID 10563487]" "Germline" "" "" "0" "" "" "g.108614980G>T" "" "pathogenic" "" "0000152332" "0" "90" "X" "107858246" "107858246" "subst" "0" "00687" "COL4A5_001155" "g.107858246G>A" "" "Hae Il et al" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108615016G>A" "" "pathogenic" "" "0000152333" "0" "90" "X" "107858256" "107858259" "del" "0" "00687" "COL4A5_001156" "g.107858256_107858259del" "" "Hae Il et al" "" "IVS30+2_5delTAAG" "" "Germline" "" "" "0" "" "" "g.108615026_108615029del" "" "pathogenic" "" "0000152334" "0" "10" "X" "107861970" "107861970" "subst" "0" "00687" "COL4A5_001157" "g.107861970C>G" "" "Fundacio_Puigvert" "" "IVS30+3716C>G" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108618740C>G" "" "benign" "" "0000152335" "0" "10" "X" "107858857" "107858857" "subst" "0" "00687" "COL4A5_001158" "g.107858857A>G" "" "Fundacio_Puigvert" "" "IVS30+603A>G" "" "Germline" "" "" "0" "" "" "g.108615627A>G" "" "benign" "" "0000152336" "0" "90" "X" "107863488" "107939609" "del" "0" "00687" "COL4A5_001159" "g.(107858255_107863488)_(107939609_?)del" "" "Matonagel" "" "Ex31_53del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152337" "0" "90" "X" "107863489" "107863489" "subst" "0" "00687" "COL4A5_001160" "g.107863489G>T" "" "Matonagel" "" "GGT>GTT" "" "Germline" "" "" "0" "" "" "g.108620259G>T" "" "pathogenic" "" "0000152338" "0" "90" "X" "107863489" "107863489" "subst" "0" "00687" "COL4A5_001160" "g.107863489G>T" "" "Hae Il et al" "" "GGT>GTT" "" "Germline" "" "" "0" "" "" "g.108620259G>T" "" "pathogenic" "" "0000152339" "0" "90" "X" "107863516" "107863516" "subst" "0" "00687" "COL4A5_001161" "g.107863516G>A" "" "Matonagel" "" "GGG>GAG" "" "Germline" "" "" "0" "" "" "g.108620286G>A" "" "pathogenic" "" "0000152340" "0" "90" "X" "107863549" "107863549" "dup" "0" "00687" "COL4A5_001162" "g.107863549dup" "" "Matonagel" "" "2569insGfs" "" "Germline" "" "" "0" "" "" "g.108620319dup" "" "pathogenic" "" "0000152341" "0" "90" "X" "107863555" "107863555" "del" "0" "00687" "COL4A5_001163" "g.107863555del" "" "Heidet" "" "cCCA>cCAg" "" "Germline" "" "" "0" "" "" "g.108620325del" "" "pathogenic" "" "0000152342" "0" "90" "X" "107863558" "107863558" "subst" "0" "00687" "COL4A5_001164" "g.107863558G>A" "" "Jens Denmark" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108620328G>A" "" "pathogenic" "" "0000152343" "0" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "Hae Il et al" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000152344" "0" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "Matonagel" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000152345" "0" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "Heidet" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000152346" "0" "90" "X" "107863585" "107863585" "subst" "0" "00687" "COL4A5_000969" "g.107863585G>A" "" "Heidet" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108620355G>A" "" "pathogenic" "" "0000152347" "0" "90" "X" "107863602" "107863602" "subst" "0" "00687" "COL4A5_001165" "g.107863602G>T" "" "Matonagel" "" "GGA>TGA" "" "Germline" "" "" "0" "" "" "g.108620372G>T" "" "pathogenic" "" "0000152348" "0" "90" "X" "107863603" "107863603" "subst" "0" "00687" "COL4A5_001166" "g.107863603G>C" "" "ARUP" "" "GGA>GCA" "" "Germline" "" "" "0" "" "" "g.108620373G>C" "" "pathogenic" "" "0000152349" "0" "90" "X" "107863604" "107863621" "dup" "0" "00687" "COL4A5_001167" "g.107863604_107863621dup" "" "Heidet" "" "2625_2642Dup" "" "Germline" "" "" "0" "" "" "g.108620374_108620391dup" "" "pathogenic" "" "0000152350" "0" "90" "X" "107863629" "107863629" "subst" "0" "00687" "COL4A5_001168" "g.107863629G>A" "" "Heidet" "" "GGA>AGA" "" "Germline" "" "" "0" "" "" "g.108620399G>A" "" "pathogenic" "" "0000152351" "0" "90" "X" "107865032" "107865032" "subst" "0" "00687" "COL4A5_001169" "g.107865032G>T" "" "Heidet" "" "IVS31-1G>T" "" "Germline" "" "" "0" "" "" "g.108621802G>T" "" "pathogenic" "" "0000152352" "0" "70" "X" "107865030" "107865030" "subst" "0" "00687" "COL4A5_000790" "g.107865030A>G" "" "Hae Il et al" "" "IVS31-3A>G" "" "Germline" "" "" "0" "" "" "g.108621800A>G" "" "likely pathogenic" "" "0000152353" "0" "90" "X" "107865041" "107865041" "subst" "0" "00687" "COL4A5_001170" "g.107865041G>A" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108621811G>A" "" "pathogenic" "" "0000152354" "0" "90" "X" "107865041" "107865041" "subst" "0" "00687" "COL4A5_001171" "g.107865041G>T" "" "Jens Denmark" "" "GGTG>TGT" "" "Germline" "" "" "0" "" "" "g.108621811G>T" "" "pathogenic" "" "0000152355" "0" "90" "X" "107865042" "107865042" "subst" "0" "00687" "COL4A5_001172" "g.107865042G>A" "" "Fundacio_Puigvert" "" "GGTG>GAT" "" "Germline" "" "" "0" "" "" "g.108621812G>A" "" "pathogenic" "" "0000152356" "0" "90" "X" "107865044" "107865044" "subst" "0" "00687" "COL4A5_001173" "g.107865044G>A" "" "Matonagel" "" "GAA>AAA" "" "Germline" "" "" "0" "" "" "g.108621814G>A" "" "pathogenic" "" "0000152357" "0" "90" "X" "107865051" "107865051" "subst" "0" "00687" "COL4A5_001174" "g.107865051G>A" "" "Matonagel" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108621821G>A" "" "pathogenic" "" "0000152358" "0" "90" "X" "107865060" "107865060" "subst" "0" "00687" "COL4A5_000830" "g.107865060G>A" "" "Hae Il et al" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108621830G>A" "" "pathogenic" "" "0000152359" "0" "90" "X" "107865060" "107865060" "subst" "0" "00687" "COL4A5_000125" "g.107865060G>T" "" "Hae Il et al" "" "GGA>GTA" "" "Germline" "" "" "0" "" "" "g.108621830G>T" "" "pathogenic" "" "0000152360" "0" "90" "X" "107865074" "107865074" "subst" "0" "00687" "COL4A5_001175" "g.107865074C>T" "" "Matonagel" "" "CCA>TCA" "Homozygous" "Germline" "" "" "0" "" "" "g.108621844C>T" "" "pathogenic" "" "0000152361" "0" "90" "X" "107865077" "107865077" "subst" "0" "00687" "COL4A5_001176" "g.107865077G>T" "" "ARUP" "" "GGA>TGA" "" "Germline" "" "" "0" "" "" "g.108621847G>T" "" "pathogenic" "" "0000152362" "0" "90" "X" "107865077" "107865077" "subst" "0" "00687" "COL4A5_001176" "g.107865077G>T" "" "ARUP" "" "GGA>TGA" "" "Germline" "" "" "0" "" "" "g.108621847G>T" "" "pathogenic" "" "0000152363" "0" "90" "X" "107865086" "107865086" "subst" "0" "00687" "COL4A5_001177" "g.107865086G>T" "" "Hae Il et al" "" "GGA>TGA" "" "Germline" "" "" "0" "" "" "g.108621856G>T" "" "pathogenic" "" "0000152364" "0" "90" "X" "107865087" "107865087" "subst" "0" "00687" "COL4A5_000127" "g.107865087G>A" "" "Hae Il et al" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108621857G>A" "" "pathogenic" "" "0000152365" "0" "90" "X" "107865087" "107865087" "subst" "0" "00687" "COL4A5_000127" "g.107865087G>A" "" "Matonagel" "" "GGA>GA" "" "Germline" "" "" "0" "" "" "g.108621857G>A" "" "pathogenic" "" "0000152366" "0" "90" "X" "107865093" "107865093" "del" "0" "00687" "COL4A5_001178" "g.107865093del" "" "ARUP" "" "CCT>CTG" "" "Germline" "" "" "0" "" "" "g.108621863del" "" "pathogenic" "" "0000152367" "0" "90" "X" "107865101" "107865101" "subst" "0" "00687" "COL4A5_000128" "g.107865101A>G" "" "Matonagel" "" "AGT>GGT" "" "Germline" "" "" "0" "" "" "g.108621871A>G" "" "pathogenic" "" "0000152368" "0" "90" "X" "107865101" "107865101" "subst" "0" "00687" "COL4A5_000128" "g.107865101A>G" "" "Matonagel" "" "AGT>GGT" "" "Germline" "" "" "0" "" "" "g.108621871A>G" "" "pathogenic" "" "0000152369" "0" "90" "X" "107865101" "107865101" "subst" "0" "00687" "COL4A5_000128" "g.107865101A>G" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108621871A>G" "" "pathogenic" "" "0000152370" "0" "90" "X" "107865102" "107865102" "dup" "0" "00687" "COL4A5_001179" "g.107865102dup" "" "Heidet" "" "2747insG" "" "Germline" "" "" "0" "" "" "g.108621872dup" "" "pathogenic" "" "0000152371" "0" "90" "X" "107865906" "107865906" "subst" "0" "00687" "COL4A5_001180" "g.107865906G>A" "" "Hae Il et al" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108622676G>A" "" "pathogenic" "" "0000152372" "0" "90" "X" "107865926" "107865926" "subst" "0" "00687" "COL4A5_000434" "g.107865926C>T" "" "Matonagel" "" "CAG>TAG" "" "Germline" "" "" "0" "" "" "g.108622696C>T" "" "pathogenic" "" "0000152373" "0" "90" "X" "107865939" "107865939" "del" "0" "00687" "COL4A5_001181" "g.107865939del" "" "Matonagel" "" "2800delC" "" "Germline" "" "" "0" "" "" "g.108622709del" "" "pathogenic" "" "0000152374" "0" "90" "X" "107865942" "107865942" "subst" "0" "00687" "COL4A5_000129" "g.107865942G>A" "" "Matonagel" "" "GGC>GAC" "" "Germline" "" "" "0" "" "" "g.108622712G>A" "" "pathogenic" "" "0000152375" "0" "90" "X" "107865969" "107865969" "subst" "0" "00687" "COL4A5_001182" "g.107865969G>A" "" "Matonagel" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108622739G>A" "" "pathogenic" "" "0000152376" "0" "90" "X" "107865969" "107865969" "subst" "0" "00687" "COL4A5_001182" "g.107865969G>A" "" "Matonagel" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108622739G>A" "" "pathogenic" "" "0000152377" "0" "90" "X" "107865996" "107865996" "subst" "0.0034612" "00687" "COL4A5_000132" "g.107865996G>T" "" "Matonagel" "" "GGA>GTA" "" "Germline" "" "" "0" "" "" "g.108622766G>T" "" "pathogenic" "" "0000152378" "0" "90" "X" "107865996" "107865996" "subst" "0.0034612" "00687" "COL4A5_000132" "g.107865996G>T" "" "Heidet" "" "GGA>GTA" "" "Germline" "" "" "0" "" "" "g.108622766G>T" "" "pathogenic" "" "0000152379" "0" "90" "X" "107867486" "107867486" "subst" "0" "00687" "COL4A5_001183" "g.107867486C>T" "" "Hae Il et al" "" "CCA>TCA" "" "Germline" "" "" "0" "" "" "g.108624256C>T" "" "pathogenic" "" "0000152380" "0" "90" "X" "107867491" "107867491" "del" "0" "00687" "COL4A5_000321" "g.107867491del" "" "Matonagel" "" "2940delA" "" "Germline" "" "" "0" "" "" "g.108624261del" "" "pathogenic" "" "0000152381" "0" "70" "X" "107867513" "107867530" "del" "0" "00687" "COL4A5_000290" "g.107867513_107867530del" "" "ARUP" "" "2964_2982delGACCCAGGGCAACCTGGA" "" "Germline" "" "" "0" "" "" "g.108624283_108624300del" "" "likely pathogenic" "" "0000152382" "0" "10" "X" "107867527" "107867527" "subst" "0.000293016" "00687" "COL4A5_000804" "g.107867527T>G" "" "Matonagel" "" "CCT>CCG" "" "Germline" "" "" "0" "" "" "g.108624297T>G" "" "benign" "" "0000152383" "0" "90" "X" "107867556" "107867556" "subst" "0" "00687" "COL4A5_001186" "g.107867556G>A" "" "Heidet" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108624326G>A" "" "pathogenic" "" "0000152384" "0" "90" "X" "107867565" "107867565" "subst" "0" "00687" "COL4A5_000260" "g.107867565G>T" "" "Heidet" "" "IVS34+1G>T" "" "Germline" "" "" "0" "" "" "g.108624335G>T" "" "pathogenic" "" "0000152385" "0" "90" "X" "107867566" "107867566" "dup" "0" "00687" "COL4A5_001187" "g.107867566dup" "" "ARUP" "" "IVS34+2_3insT" "" "Germline" "" "" "0" "" "" "g.108624336dup" "" "pathogenic" "" "0000152386" "0" "90" "X" "107869025" "107869025" "subst" "0" "00687" "COL4A5_001188" "g.107869025G>A" "" "Heidet" "" "IVS34+1G>T" "" "Germline" "" "" "0" "" "" "g.108625795G>A" "" "pathogenic" "" "0000152387" "0" "90" "X" "107868934" "107869580" "del" "0" "00687" "COL4A5_001189" "g.(107867565_107868934)_(107869580_107898560)dup" "" "Matonagel" "" "Ex35_36dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152388" "0" "90" "X" "107868936" "107869024" "dup" "0" "00687" "COL4A5_001190" "g.107868936_107869024dup" "" "Matonagel" "" "Ex35dup" "" "Germline" "" "" "0" "" "" "g.108625706_108625794dup" "" "pathogenic" "" "0000152389" "0" "90" "X" "107868979" "107868979" "subst" "0" "00687" "COL4A5_001191" "g.107868979G>A" "" "Matonagel" "" "GGG>GAG" "" "Germline" "" "" "0" "" "" "g.108625749G>A" "" "pathogenic" "" "0000152390" "0" "90" "X" "107869006" "107869006" "subst" "0" "00687" "COL4A5_000137" "g.107869006G>A" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108625776G>A" "" "pathogenic" "" "0000152391" "0" "70" "X" "107869028" "107869028" "del" "0" "00687" "COL4A5_000606" "g.107869028del" "" "Matonagel" "" "IVS35+4delA" "SEQuenz an dieser Splicestelle ñGTGAGTGAT- wird damit ñGTGGTCCA" "Germline" "" "" "0" "" "" "g.108625798del" "" "likely pathogenic" "" "0000152392" "0" "90" "X" "107869028" "107869033" "delins" "0" "00687" "COL4A5_001192" "g.107869028_107869033delinsGTCCA" "" "Matonagel" "" "IVS35+4delA+IVS35+6d" "SEQuenz an dieser Splicestelle ñGTGAGTGAT- wird damit ñGTGGTCCA" "Germline" "" "" "0" "" "" "g.108625798_108625803delinsGTCCA" "" "pathogenic" "" "0000152393" "0" "90" "X" "107869445" "107869445" "subst" "0" "00687" "COL4A5_001193" "g.107869445C>T" "" "Hae Il et al" "" "CAG>TAG" "" "Germline" "" "" "0" "" "" "g.108626215C>T" "" "pathogenic" "" "0000152394" "0" "90" "X" "107869448" "107869448" "subst" "0" "00687" "COL4A5_000139" "g.107869448G>A" "" "Heidet" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108626218G>A" "" "pathogenic" "" "0000152395" "0" "90" "X" "107869449" "107869449" "subst" "0" "00687" "COL4A5_001194" "g.107869449G>T" "" "Heidet" "" "GGT>GTT" "" "Germline" "" "" "0" "" "" "g.108626219G>T" "" "pathogenic" "" "0000152396" "0" "90" "X" "107869476" "107869476" "subst" "0" "00687" "COL4A5_001195" "g.107869476G>A" "" "Fundacio_Puigvert" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108626246G>A" "" "pathogenic" "" "0000152397" "0" "90" "X" "107869485" "107869485" "subst" "0" "00687" "COL4A5_001196" "g.107869485G>A" "" "Hae Il et al" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108626255G>A" "" "pathogenic" "" "0000152398" "0" "90" "X" "107869485" "107869485" "subst" "0" "00687" "COL4A5_001197" "g.107869485G>T" "" "Hae Il et al" "" "GGA>GTA" "" "Germline" "" "" "0" "" "" "g.108626255G>T" "" "pathogenic" "" "0000152399" "0" "90" "X" "107869487" "107869487" "subst" "0" "00687" "COL4A5_001198" "g.107869487C>T" "" "Matonagel" "" "CAA>TAA" "" "Germline" "" "" "0" "" "" "g.108626257C>T" "" "pathogenic" "" "0000152400" "0" "90" "X" "107869494" "107869494" "subst" "5.60296E-6" "00687" "COL4A5_001199" "g.107869494G>A" "" "Hae Il et al" "" "GGC>GAC" "" "Germline" "" "" "0" "" "" "g.108626264G>A" "" "pathogenic" "" "0000152401" "0" "90" "X" "107869502" "107869502" "subst" "0" "00687" "COL4A5_000141" "g.107869502G>T" "" "Heidet" "" "GGA>TGA" "" "Germline" "" "" "0" "" "" "g.108626272G>T" "" "pathogenic" "" "0000152402" "0" "90" "X" "107869503" "107869503" "subst" "0" "00687" "COL4A5_001200" "g.107869503G>T" "" "Heidet" "" "GGA>GTA" "" "Germline" "" "" "0" "" "" "g.108626273G>T" "" "pathogenic" "" "0000152403" "0" "90" "X" "107869511" "107869511" "subst" "0" "00687" "COL4A5_000142" "g.107869511G>T" "" "ARUP" "" "GGT>TGA" "" "Germline" "" "" "0" "" "" "g.108626281G>T" "" "pathogenic" "" "0000152404" "0" "90" "X" "107869514" "107869514" "subst" "0" "00687" "COL4A5_000143" "g.107869514C>T" "" "Matonagel" "" "CAG>TAG" "" "Germline" "" "" "0" "" "" "g.108626284C>T" "" "pathogenic" "" "0000152405" "0" "90" "X" "107869529" "107869529" "subst" "0" "00687" "COL4A5_000146" "g.107869529G>A" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108626299G>A" "" "pathogenic" "" "0000152406" "0" "90" "X" "107869530" "107869530" "subst" "0" "00687" "COL4A5_001201" "g.107869530G>A" "" "Matonagel" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108626300G>A" "" "pathogenic" "" "0000152407" "0" "90" "X" "107869530" "107869530" "subst" "0" "00687" "COL4A5_000147" "g.107869530G>C" "" "ARUP" "" "GGT>GCT" "" "Germline" "" "" "0" "" "" "g.108626300G>C" "" "pathogenic" "" "0000152408" "0" "90" "X" "107869556" "107869581" "dup" "0" "00687" "COL4A5_001202" "g.107869556_107869581dup" "" "Fundacio_Puigvert" "" "3221_3246dup26" "" "Germline" "" "" "0" "" "" "g.108626326_108626351dup" "" "pathogenic" "" "0000152409" "0" "90" "X" "107898560" "107910414" "del" "0" "00687" "COL4A5_001203" "g.(107869580_107898560)_(107910414_107911548)del" "" "Matonagel" "" "Ex37_40del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152410" "0" "90" "X" "107898560" "107936156" "" "0" "00687" "COL4A5_001204" "g.(107869580_107898560)_(107936156_107938036)del" "" "Fundacio_Puigvert" "" "Ex37_48del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152411" "0" "90" "X" "107898560" "107939609" "del" "0" "00687" "COL4A5_001205" "g.(107869580_107898560)_(107939609_?)del" "" "Matonagel" "" "EX37_53del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152412" "0" "90" "X" "107898625" "107898625" "subst" "0" "00687" "COL4A5_001206" "g.107898625G>A" "" "Heidet" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108655395G>A" "" "pathogenic" "" "0000152413" "0" "90" "X" "107898564" "107898564" "subst" "0" "00687" "COL4A5_001207" "g.107898564G>T" "" "Hae Il et al" "" "GAG>TAG" "" "Germline" "" "" "0" "" "" "g.108655334G>T" "" "pathogenic" "" "0000152414" "0" "90" "X" "107898589" "107898589" "subst" "0" "00687" "COL4A5_001208" "g.107898589G>A" "" "Matonagel" "" "GGG>GAG" "" "Germline" "" "" "0" "" "" "g.108655359G>A" "" "pathogenic" "" "0000152415" "0" "90" "X" "107898607" "107898607" "subst" "0" "00687" "COL4A5_001209" "g.107898607G>T" "" "Hae Il et al" "" "GGT>GTT" "" "Germline" "" "" "0" "" "" "g.108655377G>T" "" "pathogenic" "" "0000152416" "0" "90" "X" "107898615" "107898615" "subst" "0" "00687" "COL4A5_001210" "g.107898615G>T" "" "Carmen Fernandes" "" "GGA>TGA" "" "Germline" "" "" "0" "" "" "g.108655385G>T" "" "pathogenic" "" "0000152417" "0" "90" "X" "107898616" "107898616" "subst" "0" "00687" "COL4A5_001211" "g.107898616G>A" "" "Matonagel" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108655386G>A" "" "pathogenic" "" "0000152418" "0" "90" "X" "107898624" "107898624" "subst" "0" "00687" "COL4A5_001212" "g.107898624G>C" "" "Hae Il et al" "" "GGT>CGT" "" "Germline" "" "" "0" "" "" "g.108655394G>C" "" "pathogenic" "" "0000152419" "0" "90" "X" "107898640" "107898641" "ins" "0" "00687" "COL4A5_000723" "g.107898640_107898641insT" "" "ARUP" "" "GGA>AGG" "" "Germline" "" "" "0" "" "" "g.108655410_108655411insT" "" "pathogenic" "" "0000152420" "0" "90" "X" "107898643" "107898643" "subst" "0" "00687" "COL4A5_001213" "g.107898643G>A" "" "Matonagel" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108655413G>A" "" "pathogenic" "" "0000152421" "0" "90" "X" "107898674" "107898674" "dup" "0" "00687" "COL4A5_001213" "g.107898674dup" "" "Heidet" "" "CCT>TCC" "" "Germline" "" "" "0" "" "" "g.108655444dup" "" "pathogenic" "" "0000152422" "0" "90" "X" "107898682" "107898682" "dup" "0" "00687" "COL4A5_001214" "g.107898682dup" "" "Heidet" "" "TTC>TTT" "" "Germline" "" "" "0" "" "" "g.108655452dup" "" "pathogenic" "" "0000152423" "0" "90" "X" "107908755" "107908755" "del" "0" "00687" "COL4A5_001215" "g.107908755del" "" "Heidet" "" "GGA>GAc" "" "Germline" "" "" "0" "" "" "g.108665525del" "" "pathogenic" "" "0000152424" "0" "90" "X" "107908790" "107908790" "subst" "0" "00687" "COL4A5_000154" "g.107908790G>A" "" "ARUP" "" "GGC>AGC" "" "Germline" "" "" "0" "" "" "g.108665560G>A" "" "pathogenic" "" "0000152425" "0" "90" "X" "107908790" "107908790" "subst" "0" "00687" "COL4A5_001216" "g.107908790G>T" "" "Matonagel" "" "GGC>TGC" "" "Germline" "" "" "0" "" "" "g.108665560G>T" "" "pathogenic" "" "0000152426" "0" "90" "X" "107908791" "107908791" "subst" "0" "00687" "COL4A5_001217" "g.107908791G>T" "" "Hae Il et al" "" "GG>-GTA" "" "Germline" "" "" "0" "" "" "g.108665561G>T" "" "pathogenic" "" "0000152427" "0" "90" "X" "107908809" "107908809" "subst" "0" "00687" "COL4A5_001220" "g.107908809G>T" "" "Matonagel" "" "GGT>GTT" "" "Germline" "" "" "0" "" "" "g.108665579G>T" "" "pathogenic" "" "0000152428" "0" "70" "X" "107908817" "107908817" "subst" "0" "00687" "COL4A5_001221" "g.107908817G>A" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108665587G>A" "" "likely pathogenic" "" "0000152429" "0" "90" "X" "107909729" "107909729" "del" "0" "00687" "COL4A5_001222" "g.107909729del" "" "Hae Il et al" "" "3458delG" "" "Germline" "" "" "0" "" "" "g.108666499del" "" "pathogenic" "" "0000152430" "0" "90" "X" "107909735" "107909735" "del" "0" "00687" "COL4A5_001223" "g.107909735del" "" "ARUP" "" "CAT>ATC 3464_3466delT" "" "Germline" "" "" "0" "" "" "g.108666505del" "" "pathogenic" "" "0000152431" "0" "90" "X" "107909735" "107909735" "del" "0" "00687" "COL4A5_001223" "g.107909735del" "" "ARUP" "" "CAT>ATC 3464_3466delT" "" "Germline" "" "" "0" "" "" "g.108666505del" "" "pathogenic" "" "0000152432" "0" "90" "X" "107909746" "107909746" "subst" "0" "00687" "COL4A5_001224" "g.107909746C>T" "" "ARUP" "" "CCA>TAA" "" "Germline" "" "" "0" "" "" "g.108666516C>T" "" "pathogenic" "" "0000152433" "0" "90" "X" "107909753" "107909753" "subst" "0" "00687" "COL4A5_001225" "g.107909753G>A" "" "Fundacio_Puigvert" "" "GGG>GAG" "" "Germline" "" "" "0" "" "" "g.108666523G>A" "" "pathogenic" "" "0000152434" "0" "90" "X" "107909762" "107909762" "subst" "0" "00687" "COL4A5_001226" "g.107909762G>A" "" "ARUP" "" "GGC>GAC" "" "Germline" "" "" "0" "" "" "g.108666532G>A" "" "pathogenic" "" "0000152435" "0" "90" "X" "107909762" "107909762" "subst" "0" "00687" "COL4A5_001226" "g.107909762G>A" "" "Matonagel" "" "GGC>GAC" "" "Germline" "" "" "0" "" "" "g.108666532G>A" "" "pathogenic" "" "0000152436" "0" "90" "X" "107909764" "107909764" "subst" "0" "00687" "COL4A5_001227" "g.107909764G>A" "" "Matonagel" "" "GAA>AAA" "" "Germline" "" "" "0" "" "" "g.108666534G>A" "" "pathogenic" "" "0000152437" "0" "90" "X" "107909770" "107909776" "delins" "0" "00687" "COL4A5_001228" "g.107909770_107909776delinsATA" "" "Heidet" "" "3498_3506delGGCAAAC; 3498_3506insATA" "" "Germline" "" "" "0" "" "" "g.108666540_108666546delinsATA" "" "pathogenic" "" "0000152438" "0" "90" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "pathogenic" "" "0000152439" "0" "90" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_001229" "g.107909779G>C" "" "Heidet" "" "GGT>CGT" "" "Germline" "" "" "0" "" "" "g.108666549G>C" "" "pathogenic" "" "0000152440" "0" "10" "X" "107909790" "107909790" "subst" "0.00843378" "00687" "COL4A5_000805" "g.107909790T>G" "" "Matonagel" "" "GGT>GGG" "" "Germline" "" "" "0" "" "" "g.108666560T>G" "" "benign" "" "0000152441" "0" "90" "X" "107909815" "107909815" "subst" "0" "00687" "COL4A5_001230" "g.107909815G>A" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108666585G>A" "" "pathogenic" "" "0000152442" "0" "90" "X" "107910393" "107910393" "dup" "0" "00687" "COL4A5_001231" "g.107910393dup" "" "ARUP" "" "CCT>CTG" "" "Germline" "" "" "0" "" "" "g.108667163dup" "" "pathogenic" "" "0000152443" "0" "90" "X" "107910395" "107910395" "subst" "0" "00687" "COL4A5_001232" "g.107910395G>T" "" "Matonagel" "" "GGA>TGA" "" "Germline" "" "" "0" "" "" "g.108667165G>T" "" "pathogenic" "" "0000152444" "0" "90" "X" "107910415" "107910415" "subst" "0" "00687" "COL4A5_001233" "g.107910415T>C" "" "Matonagel" "" "IVS40+2T>C" "" "Germline" "" "" "0" "" "" "g.108667185T>C" "" "pathogenic" "" "0000152445" "0" "90" "X" "107910416" "107910417" "delins" "0" "00687" "COL4A5_001234" "g.107910416_107910417delinsGTT" "" "Matonagel" "" "IVS40+3_4indel" "" "Germline" "" "" "0" "" "" "g.108667186_108667187delinsGTT" "" "pathogenic" "" "0000152446" "0" "90" "X" "107911603" "107911603" "subst" "0" "00687" "COL4A5_000168" "g.107911603G>A" "" "Heidet" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108668373G>A" "" "pathogenic" "" "0000152447" "0" "90" "X" "107911611" "107911611" "subst" "0" "00687" "COL4A5_001235" "g.107911611G>A" "" "Matonagel" "" "GGC>AGC" "" "Germline" "" "" "0" "" "" "g.108668381G>A" "" "pathogenic" "" "0000152448" "0" "90" "X" "107911621" "107911621" "del" "0" "00687" "COL4A5_001236" "g.107911621del" "" "Matonagel" "" "3676delG" "" "Germline" "" "" "0" "" "" "g.108668391del" "" "pathogenic" "" "0000152449" "0" "90" "X" "107911620" "107911620" "subst" "0" "00687" "COL4A5_001237" "g.107911620G>T" "" "Matonagel" "" "GGT>TGC" "" "Germline" "" "" "0" "" "" "g.108668390G>T" "" "pathogenic" "" "0000152450" "0" "90" "X" "107911629" "107911629" "subst" "0" "00687" "COL4A5_001238" "g.107911629G>A" "" "Matonagel" "" "GGT>AGT" "A missense mutation has been already described as pathogenetic relevant at this codon position. However it is a different mutation p.G1229D c.3686G>A [PMID 10684360]" "Germline" "" "" "0" "" "" "g.108668399G>A" "" "pathogenic" "" "0000152451" "0" "90" "X" "107911629" "107911629" "subst" "0" "00687" "COL4A5_001238" "g.107911629G>A" "" "Heidet" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108668399G>A" "" "pathogenic" "" "0000152452" "0" "90" "X" "107911630" "107911630" "subst" "0" "00687" "COL4A5_000170" "g.107911630G>A" "" "Hae Il et al" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108668400G>A" "" "pathogenic" "" "0000152453" "0" "90" "X" "107911639" "107911639" "subst" "0" "00687" "COL4A5_001239" "g.107911639G>T" "" "ARUP" "" "GGT>GTT" "" "Germline" "" "" "0" "" "" "g.108668409G>T" "" "pathogenic" "" "0000152454" "0" "90" "X" "107911656" "107911656" "subst" "0" "00687" "COL4A5_001240" "g.107911656G>A" "" "Matonagel" "" "GGC>AGC" "" "Germline" "" "" "0" "" "" "g.108668426G>A" "" "pathogenic" "" "0000152455" "0" "90" "X" "107911665" "107911665" "subst" "0" "00687" "COL4A5_001241" "g.107911665G>C" "" "Matonagel" "" "GGT>CGT" "" "Germline" "" "" "0" "" "" "g.108668435G>C" "" "pathogenic" "" "0000152456" "0" "90" "X" "107911665" "107911665" "subst" "0" "00687" "COL4A5_000171" "g.107911665G>T" "" "Heidet" "" "GGT>TGT" "" "Germline" "" "" "0" "" "" "g.108668435G>T" "" "pathogenic" "" "0000152457" "0" "90" "X" "107911666" "107911666" "subst" "0" "00687" "COL4A5_001242" "g.107911666G>A" "" "Fundacio_Puigvert" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108668436G>A" "" "pathogenic" "" "0000152458" "0" "90" "X" "107911726" "107911726" "subst" "0" "00687" "COL4A5_000175" "g.107911726G>A" "" "Carmen Fernandes" "" "GGG>GAG" "" "Germline" "" "" "0" "" "" "g.108668496G>A" "" "pathogenic" "" "0000152459" "0" "90" "X" "107911736" "107911736" "subst" "0" "00687" "COL4A5_001243" "g.107911736T>A" "" "Carmen Fernandes" "" "IVS41+2T>A" "" "Germline" "" "" "0" "" "" "g.108668506T>A" "" "pathogenic" "" "0000152460" "0" "90" "X" "107920737" "107920738" "delins" "0" "00687" "COL4A5_001244" "g.107920737_107920738delinsGC" "" "Matonagel" "" "GGT>CGT" "" "Germline" "" "" "0" "" "" "g.108677507_108677508delinsGC" "" "pathogenic" "" "0000152461" "0" "90" "X" "107917975" "107917975" "subst" "0" "00687" "COL4A5_001245" "g.107917975G>A" "" "Hae Il et al" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108674745G>A" "" "pathogenic" "" "0000152462" "0" "70" "X" "107917983" "107917983" "subst" "0" "00687" "COL4A5_001246" "g.107917983G>C" "" "Hae Il et al" "" "GGT>CGT" "" "Germline" "" "" "0" "" "" "g.108674753G>C" "" "likely pathogenic" "" "0000152463" "0" "90" "X" "107920757" "107920757" "del" "0" "00687" "COL4A5_001247" "g.107920757del" "" "Heidet" "" "3818delG" "" "Germline" "" "" "0" "" "" "g.108677527del" "" "pathogenic" "" "0000152464" "0" "90" "X" "107920757" "107920757" "subst" "0" "00687" "COL4A5_001248" "g.107920757G>A" "" "Heidet" "" "GGT>GAT" "" "Germline" "" "" "0" "" "" "g.108677527G>A" "" "pathogenic" "" "0000152465" "0" "90" "X" "107920766" "107920766" "subst" "0" "00687" "COL4A5_001249" "g.107920766G>T" "" "Heidet" "" "GGA>GTA" "" "Germline" "" "" "0" "" "" "g.108677536G>T" "" "pathogenic" "" "0000152466" "0" "90" "X" "107920812" "107920812" "dup" "0" "00687" "COL4A5_001250" "g.107920812dup" "" "Matonagel" "" "3873InsG" "" "Germline" "" "" "0" "" "" "g.108677582dup" "" "pathogenic" "" "0000152467" "0" "90" "X" "107920814" "107920815" "delins" "0" "00687" "COL4A5_001251" "g.107920814_107920815delinsC" "" "Hae Il et al" "" "3875_3876delTA/3874_3875insC" "" "Germline" "" "" "0" "" "" "g.108677584_108677585delinsC" "" "pathogenic" "" "0000152468" "0" "90" "X" "107920843" "107920843" "subst" "0" "00687" "COL4A5_000177" "g.107920843C>T" "" "Hae Il et al" "" "CAA>TAA" "" "Germline" "" "" "0" "" "" "g.108677613C>T" "" "pathogenic" "" "0000152469" "0" "90" "X" "107920853" "107920853" "del" "0" "00687" "COL4A5_001252" "g.107920853del" "" "Hae Il et al" "" "3914delC" "" "Germline" "" "" "0" "" "" "g.108677623del" "" "pathogenic" "" "0000152470" "0" "70" "X" "107920863" "107920863" "subst" "0" "00687" "COL4A5_001253" "g.107920863G>A" "" "Matonagel" "" "CAG>CAA (Gln1308Gln)" "" "Germline" "" "" "0" "" "" "g.108677633G>A" "" "likely pathogenic" "" "0000152471" "0" "30" "X" "107923923" "107923923" "subst" "3.36663E-5" "00687" "COL4A5_001254" "g.107923923G>T" "" "Matonagel" "" "CGG>CGT" "" "Germline" "" "" "0" "" "" "g.108680693G>T" "" "likely benign" "" "0000152472" "0" "90" "X" "107923982" "107923982" "subst" "0" "00687" "COL4A5_001255" "g.107923982G>T" "" "Fundacio_Puigvert" "" "IVS43+1G>T" "" "Germline" "" "" "0" "" "" "g.108680752G>T" "" "pathogenic" "" "0000152473" "0" "90" "X" "107924122" "107924125" "dup" "0" "00687" "COL4A5_001256" "g.107924122_107924125dup" "" "Matonagel" "" "4005_4008dupAGGAfs" "" "Germline" "" "" "0" "" "" "g.108680892_108680895dup" "" "pathogenic" "" "0000152474" "0" "90" "X" "107924144" "107924144" "del" "0" "00687" "COL4A5_001257" "g.107924144del" "" "Heidet" "" "4027_4028delT" "" "Germline" "" "" "0" "" "" "g.108680914del" "" "pathogenic" "" "0000152475" "0" "90" "X" "107924151" "107924151" "subst" "0" "00687" "COL4A5_001258" "g.107924151G>A" "" "Fundacio_Puigvert" "" "GGC>tGAC" "" "Germline" "" "" "0" "" "" "g.108680921G>A" "" "pathogenic" "" "0000152476" "0" "90" "X" "107924156" "107924156" "subst" "0" "00687" "COL4A5_001259" "g.107924156G>T" "" "Matonagel" "" "GAG>TAG" "" "Germline" "" "" "0" "" "" "g.108680926G>T" "" "pathogenic" "" "0000152477" "0" "90" "X" "107924162" "107924162" "del" "0" "00687" "COL4A5_001260" "g.107924162del" "" "Hae Il et al" "" "4045delG" "" "Germline" "" "" "0" "" "" "g.108680932del" "" "pathogenic" "" "0000152478" "0" "90" "X" "107924187" "107924187" "subst" "0" "00687" "COL4A5_000276" "g.107924187G>A" "" "Matonagel" "" "IVS44+1G>A" "" "Germline" "" "" "0" "" "" "g.108680957G>A" "" "pathogenic" "" "0000152479" "0" "90" "X" "107924989" "107930925" "" "0" "00687" "COL4A5_001262" "g.(107924187_107924989)_(107930925_107935977)del" "" "Matonagel" "" "Ex47_49del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152480" "0" "90" "X" "107925008" "107925008" "del" "0" "00687" "COL4A5_001263" "g.107925008del" "" "Hae Il et al" "" "4088delG" "" "Germline" "" "" "0" "" "" "g.108681778del" "" "pathogenic" "" "0000152481" "0" "90" "X" "107925009" "107925009" "del" "0" "00687" "COL4A5_001264" "g.107925009del" "" "Heidet" "" "4089delT" "" "Germline" "" "" "0" "" "" "g.108681779del" "" "pathogenic" "" "0000152482" "0" "50" "X" "107925118" "107929270" "delins" "0" "00687" "COL4A5_001265" "g.107925118_107929270delinsN[22]" "" "Heidet" "" "4198_4208delins22" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000152483" "0" "90" "X" "107929290" "107929290" "subst" "3.37209E-5" "00687" "COL4A5_000185" "g.107929290C>T" "" "Matonagel" "" "CGC>TGC" "" "Germline" "" "" "0" "" "" "g.108686060C>T" "" "pathogenic" "" "0000152484" "0" "10" "X" "107929299" "107929299" "subst" "0" "00687" "COL4A5_001267" "g.107929299C>T" "" "Matonagel" "" "CAG>TAG" "" "Germline" "" "" "0" "" "" "g.108686069C>T" "" "benign" "" "0000152485" "0" "90" "X" "107929326" "107929326" "subst" "0.000371438" "00687" "COL4A5_000187" "g.107929326C>T" "" "Matonagel" "" "CGG>TGC" "" "Germline" "" "" "0" "" "" "g.108686096C>T" "" "pathogenic" "" "0000152486" "0" "90" "X" "107929337" "107929337" "subst" "0.0355565" "00687" "COL4A5_000414" "g.107929337C>T" "" "Matonagel" "" "GAC>GAT" "" "Germline" "" "" "0" "" "" "g.108686107C>T" "" "pathogenic" "" "0000152487" "0" "90" "X" "107929353" "107929353" "subst" "0" "00687" "COL4A5_001270" "g.107929353C>T" "" "Matonagel" "" "CAG>TAG" "" "Germline" "" "" "0" "" "" "g.108686123C>T" "" "pathogenic" "" "0000152488" "0" "90" "X" "107929359" "107930712" "ins" "0" "00687" "COL4A5_001271" "g.107929359_107930712insTGGAAATAG" "" "Jens Denmark" "" "4297_4298insTGGAAATAG" "Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108686129_108687482insTGGAAATAG" "" "pathogenic" "" "0000152489" "0" "90" "X" "107929360" "107929360" "subst" "5.74693E-6" "00687" "COL4A5_000614" "g.107929360G>A" "" "Hae Il et al" "" "IVS46+1 G>T" "" "Germline" "" "" "0" "" "" "g.108686130G>A" "" "pathogenic" "" "0000152490" "0" "10" "X" "107930701" "107930701" "subst" "0" "00687" "COL4A5_001273" "g.107930701C>A" "" "Jens Denmark" "" "IVS46-11C>A" "" "Germline" "" "" "0" "" "" "g.108687471C>A" "" "benign" "" "0000152491" "0" "90" "X" "107930720" "107930720" "subst" "0" "00687" "COL4A5_001274" "g.107930720G>A" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108687490G>A" "" "pathogenic" "" "0000152492" "0" "90" "X" "107930756" "107930756" "subst" "0" "00687" "COL4A5_000442" "g.107930756G>A" "" "Matonagel" "" "GGT>AGT" "" "Germline" "" "" "0" "" "" "g.108687526G>A" "" "pathogenic" "" "0000152493" "0" "90" "X" "107930720" "107930720" "subst" "0" "00687" "COL4A5_001276" "g.107930720G>T" "" "Hae Il et al" "" "GGT>TGT" "" "Germline" "" "" "0" "" "" "g.108687490G>T" "" "pathogenic" "" "0000152494" "0" "90" "X" "107930739" "107930739" "subst" "0" "00687" "COL4A5_000443" "g.107930739G>C" "" "Matonagel" "" "GGT>GCT" "" "Germline" "" "" "0" "" "" "g.108687509G>C" "" "pathogenic" "" "0000152495" "0" "90" "X" "107930740" "107930740" "del" "0" "00687" "COL4A5_001278" "g.107930740del" "" "Matonagel" "" "GGT>CAG" "" "Germline" "" "" "0" "" "" "g.108687510del" "" "pathogenic" "" "0000152496" "0" "90" "X" "107930748" "107930748" "subst" "0" "00687" "COL4A5_001279" "g.107930748G>A" "" "Matonagel" "" "GGA>GAA" "" "Germline" "" "" "0" "" "" "g.108687518G>A" "" "pathogenic" "" "0000152497" "0" "90" "X" "107930751" "107930751" "del" "0" "00687" "COL4A5_001280" "g.107930751del" "" "Heidet" "" "4336delT" "" "Germline" "" "" "0" "" "" "g.108687521del" "" "pathogenic" "" "0000152498" "0" "90" "X" "107930791" "107930791" "del" "0" "00687" "COL4A5_001281" "g.107930791del" "" "Heidet" "" "4377delA" "" "Germline" "" "" "0" "" "" "g.108687561del" "" "pathogenic" "" "0000152499" "0" "90" "X" "107930811" "107930812" "delins" "0" "00687" "COL4A5_001282" "g.107930811_107930812delinsCT" "" "Matonagel" "" "4397G>C; 4398C>T" "" "Germline" "" "" "0" "" "" "g.108687581_108687582delinsCT" "" "pathogenic" "" "0000152500" "0" "90" "X" "107930819" "107930819" "subst" "0" "00687" "COL4A5_001283" "g.107930819C>T" "" "Matonagel" "" "CAG>TAG" "" "Germline" "" "" "0" "" "" "g.108687589C>T" "" "pathogenic" "" "0000152501" "0" "90" "X" "107930820" "107930820" "del" "0" "00687" "COL4A5_001284" "g.107930820del" "" "Matonagel" "" "4406delA" "" "Germline" "" "" "0" "" "" "g.108687590del" "" "pathogenic" "" "0000152502" "0" "90" "X" "107930858" "107930858" "subst" "0" "00687" "COL4A5_001285" "g.107930858C>T" "" "ARUP" "" "CAG>TAG" "" "Germline" "" "" "0" "" "" "g.108687628C>T" "" "pathogenic" "" "0000152503" "0" "90" "X" "107930871" "107930871" "subst" "0" "00687" "COL4A5_001286" "g.107930871G>A" "" "Matonagel" "" "GGC>GAC" "" "Germline" "" "" "0" "" "" "g.108687641G>A" "" "pathogenic" "" "0000152504" "0" "90" "X" "107930871" "107930871" "subst" "0" "00687" "COL4A5_000193" "g.107930871G>C" "" "Matonagel" "" "GGC>GCC" "" "Germline" "" "" "0" "" "" "g.108687641G>C" "" "pathogenic" "" "0000152505" "0" "90" "X" "107930880" "107930881" "del" "0" "00687" "COL4A5_001288" "g.107930880_107930881del" "" "Matonagel" "" "4462_4463delTC" "" "Germline" "" "" "0" "" "" "g.108687650_108687651del" "" "pathogenic" "" "0000152506" "0" "90" "X" "107930877" "107930877" "subst" "0" "00687" "COL4A5_000194" "g.107930877C>T" "" "Matonagel" "" "TCT>TTT" "" "Germline" "" "" "0" "" "" "g.108687647C>T" "" "pathogenic" "" "0000152507" "0" "90" "X" "107930889" "107930889" "subst" "0" "00687" "COL4A5_001290" "g.107930889T>C" "" "Heidet" "" "GTA>GCA" "" "Germline" "" "" "0" "" "" "g.108687659T>C" "" "pathogenic" "" "0000152508" "0" "90" "X" "107930891" "107930891" "subst" "0" "00687" "COL4A5_001291" "g.107930891C>T" "" "ARUP" "" "CAA>TAA" "" "Germline" "" "" "0" "" "" "g.108687661C>T" "" "pathogenic" "" "0000152509" "0" "90" "X" "107930904" "107930904" "del" "0" "00687" "COL4A5_001292" "g.107930904del" "" "Hae Il et al" "" "4490delG" "" "Germline" "" "" "0" "" "" "g.108687674del" "" "pathogenic" "" "0000152510" "0" "90" "X" "107930925" "107930925" "subst" "0" "00687" "COL4A5_001293" "g.107930925G>A" "" "Heidet" "" "IVS47+1G>A" "" "Germline" "" "" "0" "" "" "g.108687695G>A" "" "pathogenic" "" "0000152511" "0" "70" "X" "107930928" "107930928" "subst" "0" "00687" "COL4A5_001294" "g.107930928A>T" "" "Matonagel" "" "IVS47+4A>T" "" "Germline" "" "" "0" "" "" "g.108687698A>T" "" "likely pathogenic" "" "0000152512" "0" "90" "X" "107935982" "107935995" "delins" "0" "00687" "COL4A5_001295" "g.107935982_107935995delinsTTTCAGCT" "" "Matonagel" "" "4515_4528delGGCTGGCAGCTGCCinsTTTCAGCT" "" "Germline" "" "" "0" "" "" "g.108692752_108692765delinsTTTCAGCT" "" "pathogenic" "" "0000152513" "0" "90" "X" "107935999" "107935999" "subst" "1.68379E-5" "00687" "COL4A5_000196" "g.107935999G>A" "" "Hae Il et al" "" "4532G>A (R1511H)" "" "Germline" "" "" "0" "" "" "g.108692769G>A" "" "pathogenic" "" "0000152514" "0" "90" "X" "107936012" "107936012" "del" "0" "00687" "COL4A5_001297" "g.107936012del" "" "Matonagel" "" "4544delC" "" "Germline" "" "" "0" "" "" "g.108692782del" "" "pathogenic" "" "0000152515" "0" "90" "X" "107936024" "107936024" "subst" "0" "00687" "COL4A5_001298" "g.107936024G>A" "" "Matonagel" "" "ATG>ATA" "" "Germline" "" "" "0" "" "" "g.108692794G>A" "" "pathogenic" "" "0000152516" "0" "90" "X" "107936035" "107936035" "subst" "1.68144E-5" "00687" "COL4A5_001299" "g.107936035T>C" "" "Matonagel" "" "ATC>ACC" "" "Germline" "" "" "0" "" "" "g.108692805T>C" "" "pathogenic" "" "0000152517" "0" "90" "X" "107936078" "107936078" "subst" "0" "00687" "COL4A5_001300" "g.107936078C>A" "" "Matonagel" "" "TAC>TAA" "" "Germline" "" "" "0" "" "" "g.108692848C>A" "" "pathogenic" "" "0000152518" "0" "90" "X" "107936081" "107936081" "subst" "0" "00687" "COL4A5_000200" "g.107936081G>A" "" "Matonagel" "" "TGG>TGA" "" "Germline" "" "" "0" "" "" "g.108692851G>A" "" "pathogenic" "" "0000152519" "0" "90" "X" "107936081" "107936081" "subst" "0" "00687" "COL4A5_000200" "g.107936081G>A" "" "Heidet" "" "TGG>TGA" "" "Germline" "" "" "0" "" "" "g.108692851G>A" "" "pathogenic" "" "0000152520" "0" "90" "X" "107936081" "107936081" "subst" "0" "00687" "COL4A5_001303" "g.107936081G>T" "" "Heidet" "" "TGG>TGT" "" "Germline" "" "" "0" "" "" "g.108692851G>T" "" "pathogenic" "" "0000152521" "0" "90" "X" "107936154" "107936154" "subst" "0" "00687" "COL4A5_000201" "g.107936154C>T" "" "Matonagel" "" "CGA>TGA" "" "Germline" "" "" "0" "" "" "g.108692924C>T" "" "pathogenic" "" "0000152522" "0" "90" "X" "107936154" "107936154" "subst" "0" "00687" "COL4A5_000201" "g.107936154C>T" "" "Hae Il et al" "" "CGA>TGA" "" "Germline" "" "" "0" "" "" "g.108692924C>T" "" "pathogenic" "" "0000152523" "0" "70" "X" "107936155" "107936155" "subst" "0" "00687" "COL4A5_000202" "g.107936155G>A" "" "Matonagel" "" "CGG>CAG" "" "Germline" "" "" "0" "" "" "g.108692925G>A" "" "likely pathogenic" "" "0000152524" "0" "70" "X" "107936155" "107936155" "subst" "0" "00687" "COL4A5_000202" "g.107936155G>A" "" "Matonagel" "" "CGA>CAA" "" "Germline" "" "" "0" "" "" "g.108692925G>A" "" "likely pathogenic" "" "0000152525" "0" "90" "X" "107936156" "107936156" "subst" "0" "00687" "COL4A5_001306" "g.107936156G>A" "" "Matonagel" "" "IVS48+1G>A" "" "Germline" "" "" "0" "" "" "g.108692926G>A" "" "pathogenic" "" "0000152526" "0" "70" "X" "107936158" "107936158" "subst" "0" "00687" "COL4A5_001307" "g.107936158A>G" "" "Matonagel" "" "IVS48+3A>G" "" "Germline" "" "" "0" "" "" "g.108692928A>G" "" "likely pathogenic" "" "0000152527" "0" "90" "X" "107938036" "107938036" "subst" "0" "00687" "COL4A5_001308" "g.107938036G>A" "" "Matonagel" "" "IVS48-1G>A" "" "Germline" "" "" "0" "" "" "g.108694806G>A" "" "pathogenic" "" "0000152528" "0" "90" "X" "107938039" "107938039" "subst" "0" "00687" "COL4A5_000828" "g.107938039G>A" "" "Matonagel" "" "TGT>TAT" "an der selben Position ist bereits eine pathogenetisch bedeutsame Missensemutation beschrieben worden" "Germline" "" "" "0" "" "" "g.108694809G>A" "" "pathogenic" "" "0000152529" "0" "90" "X" "107938047" "107938047" "subst" "0" "00687" "COL4A5_000204" "g.107938047T>C" "" "ARUP" "" "TGT>CGT" "" "Germline" "" "" "0" "" "" "g.108694817T>C" "" "pathogenic" "" "0000152530" "0" "90" "X" "107938087" "107938087" "subst" "1.68206E-5" "00687" "COL4A5_001311" "g.107938087C>G" "" "Matonagel" "" "ACG>AGG" "" "Germline" "" "" "0" "" "" "g.108694857C>G" "" "pathogenic" "" "0000152531" "0" "90" "X" "107938126" "107938126" "subst" "0" "00687" "COL4A5_001312" "g.107938126T>C" "" "Matonagel" "" "CTG>CCG" "" "Germline" "" "" "0" "" "" "g.108694896T>C" "" "pathogenic" "" "0000152532" "0" "90" "X" "107938141" "107938141" "subst" "0" "00687" "COL4A5_001313" "g.107938141C>T" "" "Matonagel" "" "TCC>TTC" "" "Germline" "" "" "0" "" "" "g.108694911C>T" "" "pathogenic" "" "0000152533" "0" "90" "X" "107938149" "107938149" "subst" "0" "00687" "COL4A5_001314" "g.107938149A>G" "" "Heidet" "" "ATG>GTG" "" "Germline" "" "" "0" "" "" "g.108694919A>G" "" "pathogenic" "" "0000152534" "0" "90" "X" "107938152" "107938152" "subst" "0" "00687" "COL4A5_000279" "g.107938152G>A" "" "Heidet" "" "IVS49+1G>A" "" "Germline" "" "" "0" "" "" "g.108694922G>A" "" "pathogenic" "" "0000152535" "0" "70" "X" "107938154" "107938154" "subst" "0" "00687" "COL4A5_001316" "g.107938154A>G" "" "Matonagel" "" "IVS49+3A>G" "" "Germline" "" "" "0" "" "" "g.108694924A>G" "" "likely pathogenic" "" "0000152536" "0" "10" "X" "107938202" "107938260" "del" "0" "00687" "COL4A5_001317" "g.107938202_107938260del" "" "ARUP" "" "4803+50del59" "" "Germline" "" "" "0" "" "" "g.108694972_108695030del" "" "benign" "" "0000152537" "0" "10" "X" "107938485" "107938485" "subst" "0" "00687" "COL4A5_001318" "g.107938485T>C" "" "Matonagel" "" "IVS49-12T>C" "" "Germline" "" "" "0" "" "" "g.108695255T>C" "" "benign" "" "0000152538" "0" "90" "X" "107938512" "107938512" "del" "0" "00687" "COL4A5_001319" "g.107938512del" "" "Matonagel" "" "GGG>Cag" "" "Germline" "" "" "0" "" "" "g.108695282del" "" "pathogenic" "" "0000152539" "0" "90" "X" "107938552" "107938552" "subst" "0" "00687" "COL4A5_001320" "g.107938552G>C" "" "Matonagel" "" "TGC>TCC" "" "Germline" "" "" "0" "" "" "g.108695322G>C" "" "pathogenic" "" "0000152540" "0" "90" "X" "107938570" "107938570" "subst" "0" "00687" "COL4A5_001321" "g.107938570C>T" "" "Matonagel" "" "TCA>TTA" "" "Germline" "" "" "0" "" "" "g.108695340C>T" "" "pathogenic" "" "0000152541" "0" "90" "X" "107938588" "107938588" "subst" "0" "00687" "COL4A5_001322" "g.107938588G>A" "" "Matonagel" "" "TGT>TAT" "" "Germline" "" "" "0" "" "" "g.108695358G>A" "" "pathogenic" "" "0000152542" "0" "90" "X" "107939551" "107939551" "del" "0" "00687" "COL4A5_001323" "g.107939551del" "" "Matonagel" "" "4898delA" "" "Germline" "" "" "0" "" "" "g.108696321del" "" "pathogenic" "" "0000152543" "0" "99" "X" "107938618" "107938626" "delins" "0" "00687" "COL4A5_001324" "g.107938618_107938626delinsN[13]" "" "ARUP" "" "4925_4933del9ins13" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152544" "0" "90" "X" "107938623" "107938623" "subst" "0" "00687" "COL4A5_001325" "g.107938623T>A" "" "Heidet" "" "TCC>ACC" "" "Germline" "" "" "0" "" "" "g.108695393T>A" "" "pathogenic" "" "0000152545" "0" "90" "X" "107938623" "107938623" "subst" "0" "00687" "COL4A5_001326" "g.107938623T>G" "" "Heidet" "" "TCC>GCC" "" "Germline" "" "" "0" "" "" "g.108695393T>G" "" "pathogenic" "" "0000152546" "0" "90" "X" "107938628" "107938629" "del" "0" "00687" "COL4A5_001327" "g.107938628_107938629del" "" "Hae Il et al" "" "4935_4936delCA" "" "Germline" "" "" "0" "" "" "g.108695398_108695399del" "" "pathogenic" "" "0000152547" "0" "90" "X" "107938635" "107938635" "del" "0" "00687" "COL4A5_001328" "g.107938635del" "" "Heidet" "" "4939delT" "" "Germline" "" "" "0" "" "" "g.108695405del" "" "pathogenic" "" "0000152548" "0" "90" "X" "107938657" "107938657" "subst" "0" "00687" "COL4A5_001329" "g.107938657C>A" "" "Fundacio_Puigvert" "" "TCA>TAA" "" "Germline" "" "" "0" "" "" "g.108695427C>A" "" "pathogenic" "" "0000152549" "0" "90" "X" "107939597" "107939597" "subst" "0" "00687" "COL4A5_001330" "g.107939597A>T" "" "Heidet" "" "" "" "Germline" "" "" "0" "" "" "g.108696367A>T" "" "pathogenic" "" "0000152550" "0" "90" "X" "107939551" "107939551" "del" "0" "00687" "COL4A5_001323" "g.107939551del" "" "Matonagel" "" "4999delA" "" "Germline" "" "" "0" "" "" "g.108696321del" "" "pathogenic" "" "0000152551" "0" "90" "X" "107939570" "107939570" "subst" "0" "00687" "COL4A5_000627" "g.107939570C>T" "" "Hae Il et al" "" "CGA>TGA" "" "Germline" "" "" "0" "" "" "g.108696340C>T" "" "pathogenic" "" "0000152552" "0" "90" "X" "107939570" "107939570" "subst" "0" "00687" "COL4A5_000627" "g.107939570C>T" "" "Matonagel" "" "CGA>TGA" "" "Germline" "" "" "0" "" "" "g.108696340C>T" "" "pathogenic" "" "0000152553" "0" "90" "X" "107939579" "107939579" "subst" "0" "00687" "COL4A5_000212" "g.107939579C>T" "" "Hae Il et al" "" "CGA>TGA" "" "Germline" "" "" "0" "" "" "g.108696349C>T" "" "pathogenic" "" "0000152554" "0" "90" "X" "107939579" "107939579" "subst" "0" "00687" "COL4A5_000212" "g.107939579C>T" "" "Hae Il et al" "" "CGA>TGA" "" "Germline" "" "" "0" "" "" "g.108696349C>T" "" "pathogenic" "" "0000152555" "0" "90" "X" "107939579" "107939579" "subst" "0" "00687" "COL4A5_000212" "g.107939579C>T" "" "Hae Il et al" "" "CGA>TGA" "" "Germline" "" "" "0" "" "" "g.108696349C>T" "" "pathogenic" "" "0000152556" "0" "90" "X" "107939580" "107939580" "subst" "2.23958E-5" "00687" "COL4A5_000213" "g.107939580G>A" "" "Matonagel" "" "CGA>CAA" "" "Germline" "" "" "0" "" "" "g.108696350G>A" "" "pathogenic" "" "0000152557" "0" "90" "X" "107939580" "107939580" "subst" "0" "00687" "COL4A5_001335" "g.107939580G>C" "" "Matonagel" "" "CGA>CCA" "" "Germline" "" "" "0" "" "" "g.108696350G>C" "" "pathogenic" "" "0000152558" "0" "90" "X" "107939580" "107939580" "subst" "0" "00687" "COL4A5_000214" "g.107939580G>T" "" "Hae Il et al" "" "CGA>CTA" "" "Germline" "" "" "0" "" "" "g.108696350G>T" "" "pathogenic" "" "0000152559" "0" "90" "X" "107939580" "107939580" "subst" "0" "00687" "COL4A5_000214" "g.107939580G>T" "" "Hae Il et al" "" "CGA>CTA" "" "Germline" "" "" "0" "" "" "g.108696350G>T" "" "pathogenic" "" "0000152560" "0" "90" "X" "107939583" "107939583" "subst" "0" "00687" "COL4A5_001337" "g.107939583G>A" "" "Matonagel" "" "TGT>TAT" "" "Germline" "" "" "0" "" "" "g.108696353G>A" "" "pathogenic" "" "0000152561" "0" "90" "X" "107939584" "107939584" "subst" "0" "00687" "COL4A5_001338" "g.107939584T>A" "" "Matonagel" "" "TGT->TGA" "" "Germline" "" "" "0" "" "" "g.108696354T>A" "" "pathogenic" "" "0000152562" "0" "90" "X" "107939570" "107939570" "subst" "0" "00687" "COL4A5_001339" "g.107939570G>T" "" "Heidet" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108696340G>T" "" "pathogenic" "" "0000152563" "0" "90" "X" "107939592" "107939592" "subst" "0" "00687" "COL4A5_000630" "g.107939592G>A" "" "Heidet" "" "" "" "Germline" "" "" "0" "" "" "g.108696362G>A" "" "pathogenic" "" "0000152564" "0" "90" "X" "107939598" "107939598" "subst" "0" "00687" "COL4A5_001341" "g.107939598A>G" "" "Heidet" "" "" "" "Germline" "" "" "0" "" "" "g.108696368A>G" "" "pathogenic" "" "0000152565" "0" "90" "X" "107939598" "107939598" "subst" "0" "00687" "COL4A5_001342" "g.107939598G>T" "" "Heidet" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108696368G>T" "" "pathogenic" "" "0000152566" "0" "10" "X" "107939657" "107939658" "dup" "0" "00687" "COL4A5_001343" "g.107939657_107939658dup" "" "Matonagel" "" "IVS+36_37dupAT" "" "Germline" "" "" "0" "" "" "g.108696427_108696428dup" "" "benign" "" "0000152567" "0" "90" "X" "107645024" "107685354" "del" "0" "01547" "COL4A5_001344" "g.107645024_107685354del" "" "" "" "ChrX.hG19:G.107,645,023_107,685,353del" "" "Unknown" "" "" "0" "" "" "g.108401794_108442124del" "" "pathogenic" "" "0000152568" "21" "50" "X" "107645024" "107685354" "del" "0" "01547" "COL4A5_001344" "g.107645024_107685354del" "" "" "" "ChrX.hG19:G.107,645,023_107,685,353del" "" "Unknown" "" "" "0" "" "" "g.108401794_108442124del" "" "VUS" "" "0000152569" "21" "70" "X" "107858168" "107858168" "del" "0" "01546" "COL4A5_001345" "g.107858168del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108614938del" "" "likely pathogenic" "" "0000152570" "0" "70" "X" "107834467" "107834467" "subst" "0" "01546" "COL4A5_001346" "g.107834467C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108591237C>G" "" "likely pathogenic" "" "0000152571" "21" "70" "X" "107930858" "107930858" "subst" "0" "01546" "COL4A5_001285" "g.107930858C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108687628C>T" "" "likely pathogenic" "" "0000152572" "21" "70" "X" "107930738" "107930738" "subst" "0" "01546" "COL4A5_000444" "g.107930738G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108687508G>C" "" "likely pathogenic" "" "0000152573" "20" "70" "X" "107930738" "107930738" "subst" "0" "01546" "COL4A5_000444" "g.107930738G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108687508G>C" "" "likely pathogenic" "" "0000152574" "20" "70" "X" "107819183" "107819183" "del" "0" "01546" "COL4A5_001020" "g.107819183del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108575953del" "" "likely pathogenic" "" "0000152575" "0" "70" "X" "107923908" "107925119" "del" "0" "01546" "COL4A5_001348" "g.(107920864_107923908)_(107925119_107929260)del" "" "" "" "3925-?_4198+?del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000152576" "21" "70" "X" "107782975" "107939609" "" "0" "01546" "COL4A5_001349" "g.(107683437_107782975)_(107939609_?)del" "" "" "" "82-?_5058+?del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000152577" "0" "70" "X" "107821548" "107821548" "subst" "0" "01546" "COL4A5_000930" "g.107821548G>A" "" "{PMID:Wang 2012:22921432}" "" "" "" "Germline" "" "" "0" "" "" "g.108578318G>A" "" "likely pathogenic" "" "0000152578" "0" "70" "X" "107865953" "107865953" "subst" "0" "01546" "COL4A5_000430" "g.107865953G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108622723G>T" "" "likely pathogenic" "" "0000152579" "0" "70" "X" "107863490" "107863534" "del" "0" "01546" "COL4A5_000433" "g.107863490_107863534del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620260_108620304del" "" "likely pathogenic" "" "0000152580" "0" "70" "X" "107929360" "107929360" "subst" "5.74693E-6" "01546" "COL4A5_000614" "g.107929360G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108686130G>A" "" "likely pathogenic" "" "0000152581" "0" "90" "X" "107553977" "107821614" "" "0" "01546" "COL4A5_001365" "g.(107464605_107553977)_(107821614_107823762)del" "" "{PMID:Sa 2013:23958657}" "" "COL4A6 E3 to COL4A5 E13del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152582" "11" "70" "X" "107863488" "107863504" "del" "0" "01546" "COL4A5_000435" "g.107863488_107863504del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620258_108620274del" "" "likely pathogenic" "" "0000152583" "21" "90" "X" "107708329" "107856319" "del" "0" "01546" "COL4A5_001366" "g.(107707634_107708329)_(107856319_107858111)del" "" "{PMID:Sa 2013:23958657}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152584" "0" "70" "X" "107938152" "107938152" "subst" "0" "01546" "COL4A5_000279" "g.107938152G>A" "" "Knebelmann (1996) Am J Hum Genet 59 (6): 1221‚Äì1232." "" "" "" "Germline" "" "" "0" "" "" "g.108694922G>A" "" "likely pathogenic" "" "0000152585" "20" "70" "X" "107827732" "107827732" "subst" "0" "01546" "COL4A5_000436" "g.107827732G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108584502G>A" "" "likely pathogenic" "" "0000152586" "0" "70" "X" "107841996" "107841996" "subst" "0" "01546" "COL4A5_000445" "g.107841996G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108598766G>A" "" "likely pathogenic" "" "0000152587" "0" "70" "X" "107863612" "107863612" "subst" "0" "01546" "COL4A5_000122" "g.107863612G>T" "" "Plant (1999) Hum Mutat 13 (2): 124‚Äì132." "" "" "" "Germline" "" "" "0" "" "" "g.108620382G>T" "" "likely pathogenic" "" "0000152588" "21" "70" "X" "107815060" "107815060" "subst" "0" "01546" "COL4A5_000760" "g.107815060G>A" "" "Bekheirnia (2010) J Am Soc Nephrol 21 (5): 876‚Äì883." "" "" "" "Germline" "" "" "0" "" "" "g.108571830G>A" "" "likely pathogenic" "" "0000152589" "21" "70" "X" "107840737" "107840737" "subst" "0" "01546" "COL4A5_000074" "g.107840737G>A" "" "Martin (1998) J Am Soc Nephrol 9 (12): 2291‚Äì2301." "" "" "" "Germline" "" "" "0" "" "" "g.108597507G>A" "" "likely pathogenic" "" "0000152590" "21" "70" "X" "107829978" "107829978" "subst" "0" "01546" "COL4A5_000245" "g.107829978G>A" "" "Renieri (1996) Am J Hum Genet 58 (6): 1192‚Äì1204." "" "" "" "Germline" "" "" "0" "" "" "g.108586748G>A" "" "likely pathogenic" "" "0000152591" "0" "90" "X" "107841931" "107841931" "subst" "0" "01548" "COL4A5_001357" "g.107841931G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108598701G>T" "" "pathogenic" "" "0000152592" "0" "90" "X" "107829839" "107829839" "subst" "0" "01548" "COL4A5_001358" "g.107829839A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108586609A>G" "" "pathogenic" "" "0000152593" "0" "90" "X" "107850123" "107850123" "subst" "0" "01548" "COL4A5_001359" "g.107850123G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108606893G>A" "" "pathogenic" "" "0000152594" "0" "90" "X" "107865096" "107865096" "subst" "0" "01548" "COL4A5_001360" "g.107865096G>A" "" "" "" "NP_203699.1:p.Gly914Asp" "" "Germline" "" "" "0" "" "" "g.108621866G>A" "" "pathogenic" "" "0000152595" "0" "90" "X" "107782976" "107782976" "subst" "0" "01548" "COL4A5_001361" "g.107782976G>T" "" "" "" "NP_203699.1:p.Ala28Ser" "" "Germline" "" "" "0" "" "" "g.108539746G>T" "" "pathogenic" "" "0000152596" "0" "90" "X" "107827733" "107827733" "subst" "0" "01548" "COL4A5_001362" "g.107827733G>T" "" "" "" "NP_203699.1:p.Gly337Val" "" "Germline" "" "" "0" "" "" "g.108584503G>T" "" "pathogenic" "" "0000152597" "0" "90" "X" "107939579" "107939579" "subst" "0" "00687" "COL4A5_000212" "g.107939579C>T" "" "{PMID:Hertz 2001:11462238}" "" "5231C>T" "" "Germline" "" "" "0" "" "" "g.108696349C>T" "" "pathogenic" "" "0000152598" "20" "90" "X" "107924186" "107924186" "subst" "0" "00687" "COL4A5_000181" "g.107924186G>A" "" "{PMID:Hertz 2001:11462238}" "" "4271G>A(G1357S)" "" "Germline" "" "" "0" "" "" "g.108680956G>A" "" "pathogenic" "" "0000152599" "0" "90" "X" "107938104" "107938104" "subst" "0" "00687" "COL4A5_000205" "g.107938104T>C" "" "{PMID:Hertz 2001:11462238}" "" "4958T>C" "" "Germline" "" "" "0" "" "" "g.108694874T>C" "" "pathogenic" "" "0000152600" "0" "90" "X" "107936155" "107936155" "subst" "0" "00687" "COL4A5_000202" "g.107936155G>A" "" "{PMID:Lemmink 1993:08406498}" "" "Arg1563Gln" "" "Germline" "" "" "0" "" "" "g.108692925G>A" "" "pathogenic" "" "0000152601" "0" "90" "X" "107821180" "107821180" "subst" "0" "00687" "COL4A5_000437" "g.107821180A>G" "" "{PMID:Tazon-Vega 2007:17660027}" "" "IVS10-2A>G" "" "Germline" "" "" "0" "" "" "g.108577950A>G" "" "pathogenic" "" "0000152602" "0" "90" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "{PMID:Tazon-Vega 2007:17660027}" "" "973G>A" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "pathogenic" "" "0000152603" "0" "90" "X" "107842008" "107842008" "subst" "0" "00687" "COL4A5_000082" "g.107842008C>T" "" "{PMID:Tazon-Vega 2007:17660027}" "" "1856C>T" "creates new branch point" "Germline" "" "" "0" "" "" "g.108598778C>T" "" "pathogenic" "" "0000152604" "0" "90" "X" "107842101" "107842101" "subst" "0" "00687" "COL4A5_000447" "g.107842101G>A" "" "{PMID:Wang 2005:15780079}" "" "2150+1G>A" "" "Germline" "" "" "0" "" "" "g.108598871G>A" "" "pathogenic" "" "0000152605" "0" "97" "X" "107816867" "107816867" "subst" "0" "00687" "COL4A5_000015" "g.107816867G>C" "" "{PMID:Wang 2005:15780079}" "" "731G>C" "" "Germline" "" "" "0" "" "" "g.108573637G>C" "" "pathogenic" "" "0000152606" "0" "90" "X" "107823778" "107823778" "subst" "0" "00687" "COL4A5_000028" "g.107823778C>T" "" "{PMID:Wang 2005:15780079}" "" "998C>T" "" "Germline" "" "" "0" "" "" "g.108580548C>T" "" "pathogenic" "" "0000152607" "1" "30" "X" "107834453" "107834453" "subst" "0.0434731" "00687" "COL4A5_000404" "g.107834453T>G" "" "{PMID:Wang 2005:15780079}" "" "1533T>G" "" "Germline" "" "" "0" "" "" "g.108591223T>G" "" "likely benign" "" "0000152608" "1" "30" "X" "107834453" "107834453" "subst" "0.0434731" "00687" "COL4A5_000404" "g.107834453T>G" "" "{PMID:Wang 2005:15780079}" "" "1533T>G" "" "Germline" "" "" "0" "" "" "g.108591223T>G" "" "likely benign" "" "0000152609" "0" "90" "X" "107823943" "107823943" "subst" "0" "00687" "COL4A5_000030" "g.107823943G>T" "" "{PMID:Guo 1995:07706490}" "" "GGT-GTT" "" "Germline" "" "" "0" "" "" "g.108580713G>T" "" "pathogenic" "" "0000152610" "1" "50" "X" "107683343" "107683343" "subst" "0.000132464" "00687" "COL4A5_000085" "g.107683343G>A" "" "{PMID:Hertz 2001:11462238}" "" "190G>A" "" "Germline" "" "" "0" "" "" "g.108440113G>A" "" "VUS" "" "0000152611" "0" "30" "X" "107865996" "107865996" "subst" "0.0034612" "00687" "COL4A5_000132" "g.107865996G>T" "" "{PMID:Inoue 1999:10561141}" "" "GGA-GTA" "" "Germline" "" "" "0" "" "" "g.108622766G>T" "" "likely benign" "" "0000152612" "0" "90" "X" "107909743" "107909743" "subst" "0" "00687" "COL4A5_000156" "g.107909743G>A" "" "{PMID:Inoue 1999:10561141}" "" "tGGG-AGG" "" "Germline" "" "" "0" "" "" "g.108666513G>A" "" "pathogenic" "" "0000152613" "0" "90" "X" "107911576" "107911576" "subst" "0" "00687" "COL4A5_000166" "g.107911576G>A" "" "{PMID:Knebelmann 1996:08940267}" "" "GGG-GAG" "" "Germline" "" "" "0" "" "" "g.108668346G>A" "" "pathogenic" "" "0000152614" "1" "90" "X" "107924160" "107924160" "subst" "0" "00687" "COL4A5_000371" "g.107924160G>A" "" "{PMID:Renieri 1996:08651296}" "" "delPG1350-1351/G1348E" "" "Germline" "" "" "0" "" "" "g.108680930G>A" "" "pathogenic" "" "0000152615" "0" "50" "X" "107939555" "107939555" "subst" "0" "00687" "COL4A5_000448" "g.107939555G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.108696325G>A" "" "VUS" "" "0000152616" "0" "50" "X" "107938669" "107938669" "subst" "0" "00687" "COL4A5_000211" "g.107938669G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.108695439G>A" "" "VUS" "" "0000152617" "1" "30" "X" "107829907" "107829907" "subst" "0.0442794" "00687" "COL4A5_000402" "g.107829907G>C" "" "{PMID:Wang 2005:15780079}" "" "1297G>C" "" "Germline" "" "" "0" "" "" "g.108586677G>C" "" "likely benign" "" "0000152618" "1" "30" "X" "107845128" "107845128" "subst" "0.0431482" "00687" "COL4A5_000408" "g.107845128T>C" "" "{PMID:Wang 2005:15780079}" "" "2257C>T" "" "Germline" "" "" "0" "" "" "g.108601898T>C" "" "likely benign" "" "0000152619" "1" "30" "X" "107909784" "107909784" "subst" "0.0508792" "00687" "COL4A5_000411" "g.107909784A>G" "" "{PMID:Wang 2005:15780079}" "" "3715A>G" "" "Germline" "" "" "0" "" "" "g.108666554A>G" "" "likely benign" "" "0000152620" "1" "30" "X" "107850076" "107850076" "subst" "0.0438653" "00687" "COL4A5_000409" "g.107850076G>A" "" "{PMID:Wang 2005:15780079}" "" "2551G>A" "" "Germline" "" "" "0" "" "" "g.108606846G>A" "" "likely benign" "" "0000152621" "1" "50" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "{PMID:Wang 2005:15780079}" "" "1175G>A" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "VUS" "" "0000152622" "1" "90" "X" "107834330" "107834330" "subst" "0" "00687" "COL4A5_000001" "g.107834330G>T" "" "{PMID:Wang 2005:15780079}" "" "1410G>T" "" "Germline" "" "" "0" "" "" "g.108591100G>T" "" "pathogenic" "" "0000152623" "1" "30" "X" "107865996" "107865996" "subst" "0.0034612" "00687" "COL4A5_000132" "g.107865996G>T" "" "{PMID:Wang 2005:15780079}" "" "3060G>T" "" "Germline" "" "" "0" "" "" "g.108622766G>T" "" "likely benign" "" "0000152624" "1" "30" "X" "107850076" "107850076" "subst" "0.0438653" "00687" "COL4A5_000409" "g.107850076G>A" "" "{PMID:Wang 2005:15780079}" "" "2551G>A" "" "Germline" "" "" "0" "" "" "g.108606846G>A" "" "likely benign" "" "0000152625" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "1" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152626" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "1" "HapMap/NCBI" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000152627" "0" "10" "X" "107730912" "107730912" "subst" "0" "00687" "COL4A5_000919" "g.107730912G>A" "0.333" "Hapmap/NCBI" "" "IVS1+47476G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.108487682G>A" "" "benign" "" "0000152628" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "1" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152629" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.5" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152630" "0" "10" "X" "107757439" "107757439" "subst" "0" "00687" "COL4A5_000874" "g.107757439C>G" "0.5" "HapMap/NCBI" "" "IVS1-25537" "" "Germline" "" "" "0" "" "" "g.108514209C>G" "" "benign" "" "0000152631" "0" "70" "X" "107905391" "107905391" "subst" "0" "00687" "COL4A5_000922" "g.107905391A>G" "" "Hapmap/NCBI" "" "IVS37-3346" "" "Germline" "" "" "0" "" "" "g.108662161A>G" "" "likely pathogenic" "" "0000152632" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.5" "Hapmap/NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000152633" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "1" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152634" "0" "70" "X" "107905391" "107905391" "subst" "0" "00687" "COL4A5_000922" "g.107905391A>G" "" "Hapmap/ NCBI" "" "IVS37-3346" "" "Germline" "" "" "0" "" "" "g.108662161A>G" "" "likely pathogenic" "" "0000152635" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.593" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152636" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.735" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152637" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "0.425" "HapMap/NCBI" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000152638" "0" "10" "X" "107705128" "107705128" "subst" "0" "00687" "COL4A5_000917" "g.107705128A>G" "0.083" "Hapmap/NCBI" "" "IVS1+21692" "" "Germline" "" "" "0" "" "" "g.108461898A>G" "" "benign" "" "0000152639" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.265" "Hapmap/NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000152640" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.331" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152641" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.419" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152642" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "0.256" "HapMap/NCBI" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000152643" "0" "10" "X" "107705128" "107705128" "subst" "0" "00687" "COL4A5_000917" "g.107705128A>G" "0.141" "Hapmap/NCBI" "" "IVS1+21692" "" "Germline" "" "" "0" "" "" "g.108461898A>G" "" "benign" "" "0000152644" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.518" "Hapmap/ NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000152645" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.233" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152646" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.302" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152647" "0" "10" "X" "107685542" "107685542" "subst" "0" "00687" "COL4A5_000847" "g.107685542G>C" "0.148" "HapMap/NCBI" "" "IVS1+2106" "" "Germline" "" "" "0" "" "" "g.108442312G>C" "" "benign" "" "0000152648" "0" "10" "X" "107705128" "107705128" "subst" "0" "00687" "COL4A5_000917" "g.107705128A>G" "0.167" "Hapmap/NCBI" "" "IVS1+21692" "" "Germline" "" "" "0" "" "" "g.108461898A>G" "" "benign" "" "0000152649" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.698" "Hapmap/NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000152650" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.567" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152651" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.774" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152652" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.243" "Hapmap/ NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000152653" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.755" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152654" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.354" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152655" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.412" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152656" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.562" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152657" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.739" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152658" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.42" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152659" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.752" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152660" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.787" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152661" "0" "10" "X" "107757439" "107757439" "subst" "0" "00687" "COL4A5_000874" "g.107757439C>G" "1" "HapMap/NCBI" "" "IVS1-25537" "" "Germline" "" "" "0" "" "" "g.108514209C>G" "" "benign" "" "0000152662" "0" "10" "X" "107705128" "107705128" "subst" "0" "00687" "COL4A5_000917" "g.107705128A>G" "1" "Hapmap/NCBI" "" "IVS1+21692" "" "Germline" "" "" "0" "" "" "g.108461898A>G" "" "benign" "" "0000152663" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "1" "Hapmap/ NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000152664" "0" "10" "X" "107705128" "107705128" "subst" "0" "00687" "COL4A5_000917" "g.107705128A>G" "0.042" "Hapmap/NCBI" "" "IVS1+21692" "" "Germline" "" "" "0" "" "" "g.108461898A>G" "" "benign" "" "0000152665" "0" "10" "X" "107705128" "107705128" "subst" "0" "00687" "COL4A5_000917" "g.107705128A>G" "0.065" "Hapmap/NCBI" "" "IVS1+21692" "" "Germline" "" "" "0" "" "" "g.108461898A>G" "" "benign" "" "0000152666" "0" "10" "X" "107695793" "107695793" "subst" "0" "00687" "COL4A5_000912" "g.107695793A>G" "" "Hapmap/ NCBI" "" "IVS1+12357" "" "Germline" "" "" "0" "" "" "g.108452563A>G" "" "benign" "" "0000152667" "0" "10" "X" "107692305" "107692305" "subst" "0" "00687" "COL4A5_000859" "g.107692305C>T" "0.5" "HapMap/NCBI" "" "IVS1+8869" "" "Germline" "" "" "0" "" "" "g.108449075C>T" "" "benign" "" "0000152668" "0" "10" "X" "107757439" "107757439" "subst" "0" "00687" "COL4A5_000874" "g.107757439C>G" "1" "HapMap/NCBI" "" "IVS1-25537" "" "Germline" "" "" "0" "" "" "g.108514209C>G" "" "benign" "" "0000152669" "0" "10" "X" "107695617" "107695617" "subst" "0" "00687" "COL4A5_000911" "g.107695617T>C" "0.333" "Hapmap/NCBI" "" "IVS1+12181T>C" "" "Germline" "" "" "0" "" "" "g.108452387T>C" "" "benign" "" "0000152670" "0" "10" "X" "107696028" "107696028" "subst" "0" "00687" "COL4A5_000915" "g.107696028G>C" "0.5" "Hapmap/ NCBI" "" "IVS1+12592" "" "Germline" "" "" "0" "" "" "g.108452798G>C" "" "benign" "" "0000152671" "0" "10" "X" "120370362" "120370362" "subst" "0" "00687" "COL4A5_000916" "g.120370362T>C" "0.333" "Hapmap/ NCBI" "" "IVS1+12686926" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000152672" "0" "10" "X" "107705128" "107705128" "subst" "0" "00687" "COL4A5_000917" "g.107705128A>G" "1" "Hapmap/NCBI" "" "IVS1+21692" "" "Germline" "" "" "0" "" "" "g.108461898A>G" "" "benign" "" "0000152673" "0" "10" "X" "107757171" "107757171" "subst" "0" "00687" "COL4A5_000924" "g.107757171G>A" "0.5" "Hapmap/NCBI" "" "IVS1-25805G>A" "" "Germline" "" "" "0" "" "" "g.108513941G>A" "" "benign" "" "0000152674" "0" "10" "X" "107827809" "107827809" "subst" "0" "00687" "COL4A5_000926" "g.107827809T>C" "" "{PMID:Artuso 2012:21897443}" "" "IVS18+54t>c" "" "Germline" "" "" "0" "" "" "g.108584579T>C" "" "benign" "" "0000152675" "0" "10" "X" "107827811" "107827811" "subst" "0" "00687" "COL4A5_000927" "g.107827811T>A" "" "{PMID:Artuso 2012:21897443}" "" "IVS18+56t>a" "" "Germline" "" "" "0" "" "" "g.108584581T>A" "" "benign" "" "0000152676" "0" "10" "X" "107827811" "107827811" "subst" "0" "00687" "COL4A5_000927" "g.107827811T>A" "" "{PMID:Artuso 2012:21897443}" "" "IVS18+56t>a" "" "Germline" "" "" "0" "" "" "g.108584581T>A" "" "benign" "" "0000152677" "0" "90" "X" "107938128" "107938129" "del" "0" "00687" "COL4A5_000944" "g.107938128_107938129del" "" "{PMID:Ma 2011:21505094}" "" "" "" "Germline" "" "" "0" "" "" "g.108694898_108694899del" "" "pathogenic" "" "0000152680" "1" "30" "X" "107829907" "107829907" "subst" "0.0442794" "00687" "COL4A5_000402" "g.107829907G>C" "" "{PMID:Wang 2005:15780079}" "" "1297G>C" "" "Germline" "" "" "0" "" "" "g.108586677G>C" "" "likely benign" "" "0000152681" "1" "30" "X" "107845128" "107845128" "subst" "0.0431482" "00687" "COL4A5_000408" "g.107845128T>C" "" "{PMID:Wang 2005:15780079}" "" "2257C>T" "" "Germline" "" "" "0" "" "" "g.108601898T>C" "" "likely benign" "" "0000152682" "1" "30" "X" "107909784" "107909784" "subst" "0.0508792" "00687" "COL4A5_000411" "g.107909784A>G" "" "{PMID:Wang 2005:15780079}" "" "3715A>G" "" "Germline" "" "" "0" "" "" "g.108666554A>G" "" "likely benign" "" "0000152683" "1" "30" "X" "107850076" "107850076" "subst" "0.0438653" "00687" "COL4A5_000409" "g.107850076G>A" "" "{PMID:Wang 2005:15780079}" "" "2551G>A" "" "Germline" "" "" "0" "" "" "g.108606846G>A" "" "likely benign" "" "0000152684" "1" "30" "X" "107829907" "107829907" "subst" "0.0442794" "00687" "COL4A5_000402" "g.107829907G>C" "" "{PMID:Wang 2005:15780079}" "" "1297G>C" "" "Germline" "" "" "0" "" "" "g.108586677G>C" "" "likely benign" "" "0000152685" "1" "30" "X" "107845128" "107845128" "subst" "0.0431482" "00687" "COL4A5_000408" "g.107845128T>C" "" "{PMID:Wang 2005:15780079}" "" "2257C>T" "" "Germline" "" "" "0" "" "" "g.108601898T>C" "" "likely benign" "" "0000152686" "1" "30" "X" "107909784" "107909784" "subst" "0.0508792" "00687" "COL4A5_000411" "g.107909784A>G" "" "{PMID:Wang 2005:15780079}" "" "3715A>G" "" "Germline" "" "" "0" "" "" "g.108666554A>G" "" "likely benign" "" "0000152687" "1" "30" "X" "107929338" "107929338" "subst" "0" "00687" "COL4A5_000407" "g.107929338C>T" "" "{PMID:Wang 2005:15780079}" "" "4478C>T" "" "Germline" "" "" "0" "" "" "g.108686108C>T" "" "likely benign" "" "0000152688" "1" "30" "X" "107850076" "107850076" "subst" "0.0438653" "00687" "COL4A5_000409" "g.107850076G>A" "" "{PMID:Wang 2005:15780079}" "" "2551G>A" "" "Germline" "" "" "0" "" "" "g.108606846G>A" "" "likely benign" "" "0000152689" "0" "90" "X" "107834790" "107939609" "" "0" "00006" "COL4A5_000378" "g.(107834462_107834790)_(107939609_?)del" "" "{PMID:Smeets 1992:01635357}" "" "5’UTR-E16_E21-3\'UTR double del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152690" "1" "90" "X" "107865115" "107865141" "dup" "0" "00006" "COL4A5_000370" "g.107865115_107865141dup" "" "{PMID:Plant 1999:10094548}" "" "2948insAT, del 2949-2961, 2969+19ins2962-2969+19" "" "Germline" "" "" "0" "" "" "g.108621885_108621911dup" "" "pathogenic" "" "0000169202" "0" "70" "X" "107911590" "107911590" "subst" "5.60143E-6" "00587" "COL4A5_001367" "g.107911590C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_033380.2(COL4A5):c.3646C>T p.(Pro1216Ser)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.108668360C>T" "" "likely pathogenic" "" "0000244141" "11" "90" "X" "107802339" "107802339" "subst" "0" "02367" "COL4A5_001368" "g.107802339G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108559109G>T" "" "pathogenic" "" "0000253633" "0" "10" "X" "107868947" "107868947" "subst" "0.0043065" "01943" "COL4A5_001381" "g.107868947A>G" "" "" "" "COL4A5(NM_000495.4):c.3029A>G (p.(Asn1010Ser)), COL4A5(NM_000495.5):c.3029A>G (p.N1010S), COL4A5(NM_033380.2):c.3029A>G (p.N1010S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108625717A>G" "" "benign" "" "0000256194" "0" "50" "X" "107850029" "107850029" "subst" "5.60431E-6" "01943" "COL4A5_001378" "g.107850029A>G" "" "" "" "COL4A5(NM_033380.2):c.2302A>G (p.K768E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108606799A>G" "" "VUS" "" "0000268374" "0" "50" "X" "107929290" "107929290" "subst" "3.37209E-5" "02329" "COL4A5_000185" "g.107929290C>T" "" "" "" "COL4A5(NM_000495.4):c.4228C>T (p.(Arg1410Cys)), COL4A5(NM_033380.3):c.4246C>T (p.R1416C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108686060C>T" "" "VUS" "" "0000270436" "0" "10" "X" "107834411" "107834411" "subst" "0.00478917" "02326" "COL4A5_000403" "g.107834411C>A" "" "" "" "COL4A5(NM_000495.4):c.1289C>A (p.(Ala430Asp)), COL4A5(NM_000495.5):c.1289C>A (p.A430D), COL4A5(NM_033380.2):c.1289C>A (p.A430D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108591181C>A" "" "benign" "" "0000270437" "0" "10" "X" "107834453" "107834453" "subst" "0.0434731" "02326" "COL4A5_000404" "g.107834453T>G" "" "" "" "COL4A5(NM_000495.5):c.1331T>G (p.I444S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108591223T>G" "" "benign" "" "0000270438" "0" "10" "X" "107840184" "107840184" "subst" "0.00827509" "02326" "COL4A5_001375" "g.107840184C>T" "" "" "" "COL4A5(NM_000495.5):c.1517-44C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108596954C>T" "" "benign" "" "0000270439" "0" "90" "X" "107840236" "107840236" "subst" "0" "02326" "COL4A5_001376" "g.107840236G>T" "" "" "" "COL4A5(NM_033380.3):c.1525G>T (p.G509C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108597006G>T" "" "pathogenic" "" "0000270440" "0" "10" "X" "107844776" "107844776" "del" "0" "02326" "COL4A5_001377" "g.107844776del" "" "" "" "COL4A5(NM_000495.5):c.2041+61delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108601546del" "" "benign" "" "0000270441" "0" "10" "X" "107845128" "107845128" "subst" "0.0431482" "02326" "COL4A5_000408" "g.107845128T>C" "" "" "" "COL4A5(NM_000495.5):c.2055T>C (p.L685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108601898T>C" "" "benign" "" "0000270442" "0" "10" "X" "107865075" "107865075" "subst" "0" "02326" "COL4A5_001380" "g.107865075C>A" "" "" "" "COL4A5(NM_000495.5):c.2720C>A (p.P907Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108621845C>A" "" "benign" "" "0000270443" "0" "10" "X" "107807225" "107807225" "subst" "0" "02326" "COL4A5_001371" "g.107807225T>C" "" "" "" "COL4A5(NM_000495.5):c.276+69T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108563995T>C" "" "benign" "" "0000270444" "0" "10" "X" "107869710" "107869710" "subst" "0" "02326" "COL4A5_001382" "g.107869710C>G" "" "" "" "COL4A5(NM_000495.5):c.3246+131C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108626480C>G" "" "benign" "" "0000270445" "0" "10" "X" "107909790" "107909790" "subst" "0.00843378" "02326" "COL4A5_000805" "g.107909790T>G" "" "" "" "COL4A5(NM_000495.5):c.3519T>G (p.G1173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108666560T>G" "" "benign" "" "0000270446" "0" "10" "X" "107910484" "107910484" "subst" "0" "02326" "COL4A5_001383" "g.107910484C>G" "" "" "" "COL4A5(NM_000495.5):c.3604+71C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108667254C>G" "" "benign" "" "0000270447" "0" "30" "X" "107913414" "107913414" "subst" "0" "02326" "COL4A5_001385" "g.107913414T>A" "" "" "" "COL4A5(NM_000495.5):c.3790+1680T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108670184T>A" "" "likely benign" "" "0000270448" "0" "10" "X" "107918025" "107918025" "del" "0" "02326" "COL4A5_001387" "g.107918025del" "" "" "" "COL4A5(NM_000495.5):c.3791-2705delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108674795del" "" "benign" "" "0000270449" "0" "10" "X" "107814447" "107814447" "subst" "0" "02326" "COL4A5_001372" "g.107814447G>T" "" "" "" "COL4A5(NM_033380.3):c.385-196G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108571217G>T" "" "benign" "" "0000270450" "0" "10" "X" "107683511" "107683511" "dup" "0" "02326" "COL4A5_001369" "g.107683511dup" "" "" "" "COL4A5(NM_000495.5):c.81+75dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108440281dup" "" "benign" "" "0000270451" "0" "10" "X" "107824025" "107824026" "del" "0" "02326" "COL4A5_001373" "g.107824025_107824026del" "" "" "" "COL4A5(NM_000495.5):c.891+57_891+58delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108580795_108580796del" "" "benign" "" "0000274201" "0" "10" "X" "107834411" "107834411" "subst" "0.00478917" "01943" "COL4A5_000403" "g.107834411C>A" "" "" "" "COL4A5(NM_000495.4):c.1289C>A (p.(Ala430Asp)), COL4A5(NM_000495.5):c.1289C>A (p.A430D), COL4A5(NM_033380.2):c.1289C>A (p.A430D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108591181C>A" "" "benign" "" "0000274202" "0" "50" "X" "107846262" "107846262" "subst" "0.00111952" "01943" "COL4A5_000102" "g.107846262C>G" "" "" "" "COL4A5(NM_000495.5):c.2215C>G (p.P739A), COL4A5(NM_033380.2):c.2215C>G (p.P739A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108603032C>G" "" "VUS" "" "0000274203" "0" "30" "X" "107863583" "107863583" "subst" "4.50892E-5" "01943" "COL4A5_001379" "g.107863583C>T" "" "" "" "COL4A5(NM_033380.2):c.2604C>T (p.P868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108620353C>T" "" "likely benign" "" "0000274204" "0" "50" "X" "107911591" "107911591" "subst" "0" "01943" "COL4A5_001384" "g.107911591C>T" "" "" "" "COL4A5(NM_033380.2):c.3647C>T (p.P1216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108668361C>T" "" "VUS" "" "0000274205" "0" "30" "X" "107917990" "107917990" "subst" "0.000416989" "01943" "COL4A5_001386" "g.107917990C>T" "" "" "" "COL4A5(NM_033380.2):c.3808+7C>T (p.(=)), COL4A5(NM_033380.3):c.3808+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108674760C>T" "" "likely benign" "" "0000274206" "0" "90" "X" "107923924" "107923924" "subst" "0.000308555" "01943" "COL4A5_000441" "g.107923924C>T" "" "" "" "COL4A5(NM_000495.3):c.3940C>T (p.P1314S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108680694C>T" "" "pathogenic" "" "0000274207" "0" "10" "X" "107929267" "107929267" "subst" "0.000805965" "01943" "COL4A5_000817" "g.107929267C>G" "" "" "" "COL4A5(NM_033380.2):c.4223C>G (p.T1408S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108686037C>G" "" "benign" "" "0000274208" "0" "50" "X" "107929326" "107929326" "subst" "0.000371438" "01943" "COL4A5_000187" "g.107929326C>T" "" "" "" "COL4A5(NM_000495.5):c.4264C>T (p.R1422C), COL4A5(NM_033380.2):c.4282C>T (p.R1428C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108686096C>T" "" "VUS" "" "0000274209" "0" "50" "X" "107936016" "107936016" "subst" "0.00015701" "01943" "COL4A5_000197" "g.107936016C>A" "" "" "" "COL4A5(NM_000495.3):c.4549C>A (p.P1517T), COL4A5(NM_033380.2):c.4567C>A (p.(Pro1523Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108692786C>A" "" "VUS" "" "0000335136" "0" "50" "X" "107834411" "107834411" "subst" "0.00478917" "01804" "COL4A5_000403" "g.107834411C>A" "" "" "" "COL4A5(NM_000495.4):c.1289C>A (p.(Ala430Asp)), COL4A5(NM_000495.5):c.1289C>A (p.A430D), COL4A5(NM_033380.2):c.1289C>A (p.A430D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108591181C>A" "" "VUS" "" "0000335137" "0" "50" "X" "107838826" "107838826" "subst" "1.1222E-5" "01804" "COL4A5_001374" "g.107838826C>T" "" "" "" "COL4A5(NM_000495.4):c.1511C>T (p.(Pro504Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108595596C>T" "" "VUS" "" "0000335138" "0" "50" "X" "107865996" "107865996" "subst" "0.0034612" "01804" "COL4A5_000132" "g.107865996G>T" "" "" "" "COL4A5(NM_000495.4):c.2858G>T (p.(Gly953Val)), COL4A5(NM_000495.5):c.2858G>T (p.G953V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108622766G>T" "" "VUS" "" "0000335141" "0" "50" "X" "107868947" "107868947" "subst" "0.0043065" "01804" "COL4A5_001381" "g.107868947A>G" "" "" "" "COL4A5(NM_000495.4):c.3029A>G (p.(Asn1010Ser)), COL4A5(NM_000495.5):c.3029A>G (p.N1010S), COL4A5(NM_033380.2):c.3029A>G (p.N1010S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108625717A>G" "" "VUS" "" "0000335142" "0" "50" "X" "107929290" "107929290" "subst" "3.37209E-5" "01804" "COL4A5_000185" "g.107929290C>T" "" "" "" "COL4A5(NM_000495.4):c.4228C>T (p.(Arg1410Cys)), COL4A5(NM_033380.3):c.4246C>T (p.R1416C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108686060C>T" "" "VUS" "" "0000335144" "0" "50" "X" "107939601" "107939601" "subst" "0" "01804" "COL4A5_001389" "g.107939601G>C" "" "" "" "COL4A5(NM_033380.3):c.5069G>C (p.(Arg1690Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108696371G>C" "" "VUS" "" "0000344754" "0" "90" "X" "107824243" "107824243" "subst" "0" "02327" "COL4A5_001392" "g.107824243C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108581013C>T" "" "pathogenic" "" "0000351656" "11" "90" "X" "107812039" "107812040" "del" "0" "02367" "COL4A5_001391" "g.107812039_107812040del" "" "" "" "372_373delCA" "" "Germline" "yes" "" "0" "" "" "g.108568809_108568810del" "" "pathogenic" "" "0000351739" "11" "90" "X" "107911630" "107911630" "subst" "0" "02367" "COL4A5_001393" "g.107911630G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108668400G>C" "" "pathogenic" "" "0000351817" "21" "90" "X" "107842041" "107842041" "del" "0" "02367" "COL4A5_001394" "g.107842041del" "" "" "" "1889delC" "" "Germline" "yes" "" "0" "" "" "g.108598811del" "" "pathogenic" "" "0000351818" "20" "90" "X" "107840626" "107840626" "subst" "0" "02367" "COL4A5_001395" "g.107840626G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108597396G>T" "" "pathogenic" "" "0000351825" "21" "90" "X" "107911625" "107911625" "del" "0" "02367" "COL4A5_001396" "g.107911625del" "" "" "" "3681delT" "" "Germline" "yes" "" "0" "" "" "g.108668395del" "" "pathogenic" "" "0000352501" "21" "90" "X" "107850117" "107850117" "del" "0" "02367" "COL4A5_001404" "g.107850117del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108606887del" "" "pathogenic" "" "0000352502" "21" "90" "X" "107869475" "107869475" "subst" "0" "02367" "COL4A5_001405" "g.107869475G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108626245G>A" "" "pathogenic" "" "0000352591" "0" "70" "X" "107936160" "107936160" "subst" "0" "02367" "COL4A5_001406" "g.107936160G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108692930G>A" "" "likely pathogenic" "" "0000352592" "0" "90" "X" "107840608" "107840608" "del" "0" "02367" "COL4A5_001401" "g.107840608del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.108597378del" "" "pathogenic" "" "0000352593" "21" "90" "X" "107826123" "107826123" "subst" "0" "02367" "COL4A5_001397" "g.107826123G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108582893G>A" "" "pathogenic" "" "0000352594" "20" "90" "X" "107829924" "107829924" "dup" "0" "02367" "COL4A5_001398" "g.107829924dup" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.108586694dup" "" "pathogenic" "" "0000352595" "20" "90" "X" "107845114" "107845114" "subst" "0" "02367" "COL4A5_001403" "g.107845114G>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.108601884G>A" "" "pathogenic" "" "0000352596" "0" "90" "X" "107840290" "107840291" "del" "0" "02367" "COL4A5_001399" "g.107840290_107840291del" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108597060_108597061del" "" "pathogenic" "" "0000352597" "20" "90" "X" "107840605" "107840605" "subst" "0" "02367" "COL4A5_001400" "g.107840605A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.108597375A>G" "" "pathogenic" "" "0000352598" "0" "90" "X" "107844659" "107844659" "del" "0" "02367" "COL4A5_001402" "g.107844659del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108601429del" "" "pathogenic" "" "0000352663" "21" "90" "X" "107840303" "107840303" "subst" "0" "02367" "COL4A5_001407" "g.107840303G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108597073G>T" "" "pathogenic" "" "0000352664" "21" "90" "X" "107867556" "107867556" "subst" "0" "02367" "COL4A5_001409" "g.107867556G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108624326G>T" "" "pathogenic" "" "0000352707" "0" "90" "X" "107898652" "107898652" "subst" "0" "02367" "COL4A5_001410" "g.107898652G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.108655422G>A" "" "pathogenic" "" "0000352708" "0" "90" "X" "107910387" "107910387" "subst" "0" "02367" "COL4A5_001411" "g.107910387G>A" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.108667157G>A" "" "pathogenic" "" "0000352764" "21" "90" "X" "107863518" "107863518" "del" "0" "02367" "COL4A5_001408" "g.107863518del" "" "" "" "2539delG" "" "Germline" "yes" "" "0" "" "" "g.108620288del" "" "pathogenic" "" "0000352807" "0" "90" "X" "107823762" "107846292" "dup" "0" "02367" "COL4A5_001414" "g.(107821614_107823762)_(107846292_107849971)dup" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.(108578384_108580532)_(108603062_108606741)dup" "" "pathogenic" "" "0000353017" "0" "50" "X" "107935997" "107935997" "subst" "0" "02367" "COL4A5_001419" "g.107935997T>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.108692767T>C" "" "VUS" "" "0000353020" "0" "90" "X" "107924162" "107924162" "dup" "0" "02367" "COL4A5_001418" "g.107924162dup" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108680932dup" "" "pathogenic" "" "0000353021" "20" "90" "X" "107865044" "107865044" "subst" "0" "02367" "COL4A5_001417" "g.107865044G>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.108621814G>T" "" "pathogenic" "" "0000353040" "20" "90" "X" "107938670" "107938670" "subst" "0" "02367" "COL4A5_001420" "g.107938670G>A" "" "" "" "" "mother germline negative" "De novo" "yes" "" "0" "" "" "g.108695440G>A" "" "pathogenic" "" "0000353109" "0" "90" "X" "107834320" "107834320" "subst" "0" "02367" "COL4A5_001416" "g.107834320G>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108591090G>A" "" "pathogenic" "" "0000353110" "20" "90" "X" "107826166" "107826166" "del" "0" "02367" "COL4A5_001415" "g.107826166del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.108582936del" "" "pathogenic" "" "0000353111" "0" "90" "X" "107782975" "107858255" "del" "0" "02367" "COL4A5_001413" "g.(107683437_107782975)_(107858255_107863488)del" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic" "" "0000353112" "0" "90" "X" "107681171" "107898688" "del" "0" "02367" "COL4A5_001412" "g.(107554059_107681171)_(107898688_107908736)del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000353650" "20" "90" "X" "107840765" "107840768" "dup" "0" "02367" "COL4A5_001422" "g.107840765_107840768dup" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.108597535_108597538dup" "" "pathogenic" "" "0000353660" "0" "70" "X" "107850127" "107850127" "subst" "0" "02367" "COL4A5_001423" "g.107850127G>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108606897G>A" "" "likely pathogenic" "" "0000353661" "20" "90" "X" "107838767" "107838767" "subst" "0" "02367" "COL4A5_001421" "g.107838767C>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.108595537C>A" "" "pathogenic" "" "0000353669" "10" "90" "X" "107867511" "107867511" "subst" "0" "02367" "COL4A5_001424" "g.107867511G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108624281G>A" "" "pathogenic" "" "0000353744" "1" "90" "X" "107821350" "107821350" "subst" "0" "00687" "COL4A5_001493" "g.107821350G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108578120G>C" "" "pathogenic" "" "0000353746" "1" "90" "X" "107924187" "107924187" "subst" "0" "00687" "COL4A5_000276" "g.107924187G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108680957G>A" "" "pathogenic" "" "0000353747" "1" "70" "X" "107834820" "107834820" "subst" "0" "00687" "COL4A5_001531" "g.107834820G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108591590G>T" "" "likely pathogenic" "" "0000353751" "1" "70" "X" "107824240" "107824240" "subst" "0" "00687" "COL4A5_001505" "g.107824240G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108581010G>A" "" "likely pathogenic" "" "0000353755" "1" "90" "X" "107924167" "107924188" "dup" "0" "00687" "COL4A5_001682" "g.107924167_107924188dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108680937_108680958dup" "" "pathogenic" "" "0000353759" "1" "70" "X" "107865996" "107865996" "subst" "0.0034612" "00687" "COL4A5_000132" "g.107865996G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108622766G>T" "" "likely pathogenic" "" "0000353763" "1" "30" "X" "107840223" "107840224" "dup" "0" "00687" "COL4A5_001542" "g.107840223_107840224dup" "" "" "" "1517-5_1517-4dupGT" "" "Germline" "" "" "0" "" "" "g.108596993_108596994dup" "" "likely benign" "" "0000353767" "1" "70" "X" "107842005" "107842005" "subst" "0" "00687" "COL4A5_001559" "g.107842005G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108598775G>A" "" "likely pathogenic" "" "0000353772" "1" "50" "X" "107846182" "107846182" "subst" "0.000638243" "00687" "COL4A5_001585" "g.107846182A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108602952A>G" "" "VUS" "" "0000353778" "1" "50" "X" "107911672" "107911672" "subst" "0" "00687" "COL4A5_001669" "g.107911672C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108668442C>T" "" "VUS" "" "0000353781" "1" "90" "X" "107802302" "107802305" "del" "0" "00687" "COL4A5_001464" "g.107802302_107802305del" "" "" "" "150_153delAGGG" "" "Germline" "" "" "0" "" "" "g.108559072_108559075del" "" "pathogenic" "" "0000353782" "1" "50" "X" "107819205" "107819205" "subst" "0" "00687" "COL4A5_001487" "g.107819205A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108575975A>T" "" "VUS" "" "0000353786" "1" "70" "X" "107829951" "107829951" "subst" "0" "00687" "COL4A5_000045" "g.107829951G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108586721G>A" "" "likely pathogenic" "" "0000353787" "1" "50" "X" "107924178" "107924178" "subst" "0" "00687" "COL4A5_001685" "g.107924178G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108680948G>A" "" "VUS" "" "0000353789" "1" "90" "X" "107844623" "107844623" "del" "0" "00687" "COL4A5_001567" "g.107844623del" "" "" "" "1949delG" "" "Germline" "" "" "0" "" "" "g.108601393del" "" "pathogenic" "" "0000353791" "1" "70" "X" "107930756" "107930756" "subst" "0" "00687" "COL4A5_000442" "g.107930756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108687526G>A" "" "likely pathogenic" "" "0000353792" "1" "90" "X" "107869006" "107869006" "subst" "0" "00687" "COL4A5_000137" "g.107869006G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108625776G>A" "" "pathogenic" "" "0000353795" "1" "70" "X" "107909761" "107909761" "subst" "0" "00687" "COL4A5_001648" "g.107909761G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108666531G>A" "" "likely pathogenic" "" "0000353796" "1" "70" "X" "107869016" "107869016" "subst" "0" "00687" "COL4A5_001633" "g.107869016G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108625786G>A" "" "likely pathogenic" "" "0000353797" "1" "70" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "likely pathogenic" "" "0000353798" "1" "90" "X" "107868965" "107868969" "delins" "0" "00687" "COL4A5_001630" "g.107868965_107868969delinsCAGGGACCCT" "" "" "" "3047_3051delAGCCAinsCAGGGACCCT" "" "Germline" "" "" "0" "" "" "g.108625735_108625739delinsCAGGGACCCT" "" "pathogenic" "" "0000353800" "1" "70" "X" "107823800" "107823800" "subst" "0" "00687" "COL4A5_001496" "g.107823800G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108580570G>A" "" "likely pathogenic" "" "0000353802" "1" "90" "X" "107834847" "107834847" "subst" "0" "00687" "COL4A5_001533" "g.107834847G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108591617G>T" "" "pathogenic" "" "0000353812" "1" "70" "X" "107849973" "107849973" "subst" "0" "00687" "COL4A5_001590" "g.107849973G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108606743G>A" "" "likely pathogenic" "" "0000353813" "1" "90" "X" "107863658" "107863658" "subst" "0" "00687" "COL4A5_001612" "g.107863658T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620428T>G" "" "pathogenic" "" "0000353814" "1" "70" "X" "107840719" "107840719" "subst" "0" "00687" "COL4A5_000073" "g.107840719G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597489G>C" "" "likely pathogenic" "" "0000353815" "1" "70" "X" "107869494" "107869494" "subst" "5.60296E-6" "00687" "COL4A5_001199" "g.107869494G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108626264G>A" "" "likely pathogenic" "" "0000353817" "1" "70" "X" "107869006" "107869006" "subst" "0" "00687" "COL4A5_000137" "g.107869006G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108625776G>A" "" "likely pathogenic" "" "0000353818" "1" "70" "X" "107930738" "107930738" "subst" "0" "00687" "COL4A5_000444" "g.107930738G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108687508G>C" "" "likely pathogenic" "" "0000353825" "1" "70" "X" "107865996" "107865996" "subst" "0.0034612" "00687" "COL4A5_000132" "g.107865996G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108622766G>T" "" "likely pathogenic" "" "0000353826" "1" "70" "X" "107845097" "107845097" "subst" "0" "00687" "COL4A5_000600" "g.107845097A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108601867A>G" "" "likely pathogenic" "" "0000353834" "1" "70" "X" "107840653" "107840653" "subst" "0" "00687" "COL4A5_000069" "g.107840653G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597423G>T" "" "likely pathogenic" "" "0000353835" "1" "70" "X" "107929306" "107929306" "subst" "0" "00687" "COL4A5_001691" "g.107929306G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108686076G>A" "" "likely pathogenic" "" "0000353836" "1" "90" "X" "107683437" "107683437" "subst" "0" "00687" "COL4A5_000779" "g.107683437G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108440207G>C" "" "pathogenic" "" "0000353837" "1" "50" "X" "107939516" "107939522" "del" "0" "00687" "COL4A5_001723" "g.107939516_107939522del" "" "" "" "4995-11_4995-5delTTATTTC" "" "Germline" "" "" "0" "" "" "g.108696286_108696292del" "" "VUS" "" "0000353841" "1" "90" "X" "107829844" "107850123" "del" "0" "00687" "COL4A5_001444" "g.(107827756_107829844)_(107850123_107858140)del" "" "" "" "del ex19-29" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000353844" "1" "70" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "likely pathogenic" "" "0000353845" "1" "90" "X" "107908736" "107939609" "del" "0" "00687" "COL4A5_000673" "g.(107898688_107908736)_(107939609_?)del" "" "" "" "del ex38-53" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000353847" "1" "50" "X" "107816805" "107816805" "subst" "0" "00687" "COL4A5_001479" "g.107816805G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108573575G>A" "" "VUS" "" "0000353850" "1" "50" "X" "107936108" "107936108" "subst" "2.24232E-5" "00687" "COL4A5_001708" "g.107936108G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108692878G>A" "" "VUS" "" "0000353852" "1" "90" "X" "107920864" "107920864" "subst" "0" "00687" "COL4A5_001678" "g.107920864G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108677634G>T" "" "pathogenic" "" "0000353854" "1" "70" "X" "107838805" "107838805" "subst" "0" "00687" "COL4A5_001538" "g.107838805G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108595575G>A" "" "likely pathogenic" "" "0000353856" "1" "70" "X" "107939580" "107939580" "subst" "2.23958E-5" "00687" "COL4A5_000213" "g.107939580G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108696350G>A" "" "likely pathogenic" "" "0000353858" "1" "70" "X" "107811989" "107811989" "subst" "0" "00687" "COL4A5_001467" "g.107811989G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108568759G>A" "" "likely pathogenic" "" "0000353859" "1" "70" "X" "107842013" "107842013" "subst" "0" "00687" "COL4A5_000083" "g.107842013G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108598783G>T" "" "likely pathogenic" "" "0000353861" "1" "90" "X" "107930736" "107930736" "del" "0" "00687" "COL4A5_001697" "g.107930736del" "" "" "" "4340delC" "" "Germline" "" "" "0" "" "" "g.108687506del" "" "pathogenic" "" "0000353864" "1" "70" "X" "107930870" "107930870" "subst" "0" "00687" "COL4A5_001702" "g.107930870G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108687640G>C" "" "likely pathogenic" "" "0000353865" "1" "70" "X" "107909753" "107909753" "subst" "0" "00687" "COL4A5_001225" "g.107909753G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108666523G>A" "" "likely pathogenic" "" "0000353866" "1" "50" "X" "107909709" "107909709" "subst" "1.99342E-5" "00687" "COL4A5_001645" "g.107909709T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108666479T>A" "" "VUS" "" "0000353867" "1" "70" "X" "107865078" "107865078" "subst" "0" "00687" "COL4A5_001614" "g.107865078G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108621848G>A" "" "likely pathogenic" "" "0000353868" "1" "90" "X" "107869439" "107869580" "del" "0" "00687" "COL4A5_001433" "g.(107869025_107869439)_(107869580_107898560)del" "" "" "" "del ex36" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000353869" "1" "90" "X" "107834413" "107834420" "dup" "0" "00687" "COL4A5_001529" "g.107834413_107834420dup" "" "" "" "1291_1298dupCCTGGGCT" "" "Germline" "" "" "0" "" "" "g.108591183_108591190dup" "" "pathogenic" "" "0000353870" "1" "70" "X" "107838739" "107838739" "subst" "0" "00687" "COL4A5_001537" "g.107838739G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108595509G>A" "" "likely pathogenic" "" "0000353872" "1" "90" "X" "107909731" "107909731" "subst" "0" "00687" "COL4A5_001646" "g.107909731G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108666501G>T" "" "pathogenic" "" "0000353874" "1" "50" "X" "107814701" "107814701" "subst" "0" "00687" "COL4A5_001473" "g.107814701G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108571471G>C" "" "VUS" "" "0000353876" "1" "70" "X" "107910404" "107910404" "subst" "0" "00687" "COL4A5_001655" "g.107910404G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108667174G>C" "" "likely pathogenic" "" "0000353880" "1" "70" "X" "107826160" "107826160" "subst" "0" "00687" "COL4A5_001512" "g.107826160G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108582930G>A" "" "likely pathogenic" "" "0000353882" "1" "70" "X" "107829907" "107829915" "dup" "0" "00687" "COL4A5_001521" "g.107829907_107829915dup" "" "" "" "1095_1103dupGTTGCCTGG" "" "Germline" "" "" "0" "" "" "g.108586677_108586685dup" "" "likely pathogenic" "" "0000353883" "1" "70" "X" "107909770" "107909770" "subst" "0" "00687" "COL4A5_000158" "g.107909770G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108666540G>A" "" "likely pathogenic" "" "0000353884" "1" "90" "X" "107819203" "107819203" "subst" "0" "00687" "COL4A5_000236" "g.107819203G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108575973G>A" "" "pathogenic" "" "0000353886" "1" "70" "X" "107869016" "107869016" "subst" "0" "00687" "COL4A5_001634" "g.107869016G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108625786G>T" "" "likely pathogenic" "" "0000353889" "1" "70" "X" "107815041" "107815041" "subst" "0" "00687" "COL4A5_001474" "g.107815041G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108571811G>A" "" "likely pathogenic" "" "0000353890" "1" "70" "X" "107939579" "107939579" "subst" "0" "00687" "COL4A5_000212" "g.107939579C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108696349C>T" "" "likely pathogenic" "" "0000353892" "1" "90" "X" "107782975" "107858255" "dup" "0" "00687" "COL4A5_001434" "g.(107683437_107782975)_(107858255_107863488)dup" "" "" "" "ex2-30 dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000353895" "1" "70" "X" "107938116" "107938116" "subst" "0" "00687" "COL4A5_001713" "g.107938116T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108694886T>C" "" "likely pathogenic" "" "0000353899" "1" "90" "X" "107840674" "107840674" "del" "0" "00687" "COL4A5_001549" "g.107840674del" "" "" "" "1655delC" "" "Germline" "" "" "0" "" "" "g.108597444del" "" "pathogenic" "" "0000353900" "1" "70" "X" "107823821" "107823821" "subst" "0" "00687" "COL4A5_001498" "g.107823821G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108580591G>A" "" "likely pathogenic" "" "0000353903" "1" "70" "X" "107842005" "107842005" "subst" "0" "00687" "COL4A5_001559" "g.107842005G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108598775G>A" "" "likely pathogenic" "" "0000353909" "1" "90" "X" "107823911" "107823911" "subst" "0" "00687" "COL4A5_001499" "g.107823911G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108580681G>C" "" "pathogenic" "" "0000353913" "1" "90" "X" "107865101" "107865101" "subst" "0" "00687" "COL4A5_000128" "g.107865101A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108621871A>G" "" "pathogenic" "" "0000353914" "1" "50" "X" "107824195" "107824195" "subst" "0" "00687" "COL4A5_001503" "g.107824195T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108580965T>G" "" "VUS" "" "0000353915" "1" "90" "X" "107815048" "107815048" "dup" "0" "00687" "COL4A5_001475" "g.107815048dup" "" "" "" "446dupC" "" "Germline" "" "" "0" "" "" "g.108571818dup" "" "pathogenic" "" "0000353918" "1" "70" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "likely pathogenic" "" "0000353920" "1" "50" "X" "107930810" "107930810" "subst" "1.12027E-5" "00687" "COL4A5_001700" "g.107930810C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108687580C>T" "" "VUS" "" "0000353922" "1" "90" "X" "107863487" "107863487" "subst" "5.66277E-6" "00687" "COL4A5_001606" "g.107863487A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620257A>G" "" "pathogenic" "" "0000353924" "1" "70" "X" "107821210" "107821210" "subst" "0" "00687" "COL4A5_000423" "g.107821210G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108577980G>A" "" "likely pathogenic" "" "0000353926" "1" "70" "X" "107824212" "107824212" "subst" "0" "00687" "COL4A5_000243" "g.107824212G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108580982G>C" "" "likely pathogenic" "" "0000353927" "1" "90" "X" "107834873" "107834888" "del" "0" "00687" "COL4A5_001536" "g.107834873_107834888del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108591643_108591658del" "" "pathogenic" "" "0000353928" "1" "50" "X" "107821297" "107821297" "subst" "0" "00687" "COL4A5_001490" "g.107821297T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108578067T>G" "" "VUS" "" "0000353930" "1" "70" "X" "107840236" "107840236" "subst" "0" "00687" "COL4A5_001544" "g.107840236G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597006G>C" "" "likely pathogenic" "" "0000353934" "1" "90" "X" "107829929" "107829929" "subst" "0" "00687" "COL4A5_000043" "g.107829929C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108586699C>T" "" "pathogenic" "" "0000353937" "1" "90" "X" "107683437" "107683437" "subst" "0" "00687" "COL4A5_000779" "g.107683437G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108440207G>C" "" "pathogenic" "" "0000353938" "1" "50" "X" "107844691" "107844691" "subst" "0.000272521" "00687" "COL4A5_001573" "g.107844691A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108601461A>G" "" "VUS" "" "0000353941" "1" "70" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "likely pathogenic" "" "0000353944" "1" "70" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "likely pathogenic" "" "0000353945" "1" "70" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "likely pathogenic" "" "0000353946" "1" "70" "X" "107807111" "107807157" "del" "0" "00687" "COL4A5_001432" "g.(107802384_107807111)_(107807157_107811858)del" "" "" "" "del ex4" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000353956" "1" "70" "X" "107930840" "107930840" "subst" "0" "00687" "COL4A5_001701" "g.107930840T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108687610T>G" "" "likely pathogenic" "" "0000353960" "1" "70" "X" "107834361" "107834361" "del" "0" "00687" "COL4A5_001526" "g.107834361del" "" "" "" "1239delA" "" "Germline" "" "" "0" "" "" "g.108591131del" "" "likely pathogenic" "" "0000353962" "1" "90" "X" "107802293" "107826168" "del" "0" "00687" "COL4A5_001451" "g.(107783036_107802293)_(107826168_107827713)del" "" "" "" "142_990del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000353963" "1" "50" "X" "107840202" "107840202" "subst" "0" "00687" "COL4A5_001541" "g.107840202T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108596972T>A" "" "VUS" "" "0000353964" "1" "70" "X" "107816885" "107816885" "dup" "0" "00687" "COL4A5_001483" "g.107816885dup" "" "" "" "546+1dupG" "" "Germline" "" "" "0" "" "" "g.108573655dup" "" "likely pathogenic" "" "0000353966" "1" "90" "X" "107812052" "107812052" "subst" "0" "00687" "COL4A5_001470" "g.107812052G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108568822G>A" "" "pathogenic" "" "0000353968" "1" "90" "X" "107842064" "107842064" "subst" "0" "00687" "COL4A5_000090" "g.107842064G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108598834G>A" "" "pathogenic" "" "0000353976" "1" "70" "X" "107850059" "107850059" "subst" "0" "00687" "COL4A5_000109" "g.107850059G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108606829G>A" "" "likely pathogenic" "" "0000353977" "1" "70" "X" "107869511" "107869511" "subst" "0" "00687" "COL4A5_001636" "g.107869511G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108626281G>A" "" "likely pathogenic" "" "0000353978" "1" "90" "X" "107867465" "107930925" "del" "0" "00687" "COL4A5_001431" "g.(107866056_107867465)_(107930925_107935977)del" "" "" "" "del ex34-49" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000353983" "1" "70" "X" "107840626" "107840626" "subst" "0" "00687" "COL4A5_000067" "g.107840626G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597396G>A" "" "likely pathogenic" "" "0000353984" "1" "70" "X" "107850059" "107850059" "subst" "0" "00687" "COL4A5_000109" "g.107850059G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108606829G>A" "" "likely pathogenic" "" "0000353985" "1" "70" "X" "107911657" "107911657" "subst" "0" "00687" "COL4A5_001668" "g.107911657G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108668427G>T" "" "likely pathogenic" "" "0000353987" "1" "70" "X" "107840737" "107840737" "subst" "0" "00687" "COL4A5_001552" "g.107840737G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597507G>T" "" "likely pathogenic" "" "0000353989" "1" "90" "X" "107867465" "107867465" "subst" "0" "00687" "COL4A5_001622" "g.107867465G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108624235G>A" "" "pathogenic" "" "0000353992" "1" "70" "X" "107840740" "107840740" "subst" "0" "00687" "COL4A5_001553" "g.107840740T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597510T>G" "" "likely pathogenic" "" "0000353993" "1" "90" "X" "107938152" "107938152" "subst" "0" "00687" "COL4A5_001716" "g.107938152G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108694922G>T" "" "pathogenic" "" "0000353999" "1" "70" "X" "107936099" "107936099" "del" "0" "00687" "COL4A5_001707" "g.107936099del" "" "" "" "4650delC" "" "Germline" "" "" "0" "" "" "g.108692869del" "" "likely pathogenic" "" "0000354001" "1" "90" "X" "107850015" "107850015" "subst" "0" "00687" "COL4A5_000573" "g.107850015G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108606785G>A" "" "pathogenic" "" "0000354002" "1" "70" "X" "107829907" "107829915" "del" "0" "00687" "COL4A5_000281" "g.107829907_107829915del" "" "" "" "1095_1103delGTTGCCTGG" "" "Germline" "" "" "0" "" "" "g.108586677_108586685del" "" "likely pathogenic" "" "0000354003" "1" "90" "X" "107939516" "107939522" "del" "0" "00687" "COL4A5_001723" "g.107939516_107939522del" "" "" "" "4995-11_4995-5delTTATTTC" "" "Germline" "" "" "0" "" "" "g.108696286_108696292del" "" "pathogenic" "" "0000354004" "1" "70" "X" "107829933" "107829933" "subst" "0" "00687" "COL4A5_001059" "g.107829933G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108586703G>A" "" "likely pathogenic" "" "0000354006" "1" "70" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "likely pathogenic" "" "0000354007" "1" "70" "X" "107838814" "107838814" "subst" "0" "00687" "COL4A5_001539" "g.107838814G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108595584G>A" "" "likely pathogenic" "" "0000354008" "1" "70" "X" "107816832" "107816832" "subst" "0" "00687" "COL4A5_001481" "g.107816832C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108573602C>A" "" "likely pathogenic" "" "0000354009" "1" "90" "X" "107936154" "107936154" "subst" "0" "00687" "COL4A5_000201" "g.107936154C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108692924C>T" "" "pathogenic" "" "0000354012" "1" "70" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "likely pathogenic" "" "0000354016" "1" "90" "X" "107867540" "107867540" "subst" "0" "00687" "COL4A5_001629" "g.107867540C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108624310C>T" "" "pathogenic" "" "0000354021" "1" "70" "X" "107925076" "107925076" "delins" "0" "00687" "COL4A5_001689" "g.107925076delinsTT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108681846delinsTT" "" "likely pathogenic" "" "0000354022" "1" "70" "X" "107840728" "107840728" "subst" "0" "00687" "COL4A5_001106" "g.107840728G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597498G>A" "" "likely pathogenic" "" "0000354025" "1" "70" "X" "107858220" "107858228" "del" "0" "00687" "COL4A5_000286" "g.107858220_107858228del" "" "" "" "2475_2483delACCACCAGG" "" "Germline" "" "" "0" "" "" "g.108614990_108614998del" "" "likely pathogenic" "" "0000354027" "0" "50" "X" "107858150" "107858150" "subst" "0" "00687" "COL4A5_001599" "g.107858150G>A" "" "" "" "" "in gnomAD" "Germline" "" "" "0" "" "" "g.108614920G>A" "" "VUS" "" "0000354336" "1" "90" "X" "107656065" "107701476" "del" "0" "00687" "COL4A5_001429" "g.107656065_107701476del" "" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "66+25107(COL4A6)_81+18040(COL4A5)del" "" "Germline" "" "" "0" "" "" "g.108412835_108458246del" "" "pathogenic" "" "0000354337" "1" "90" "X" "107675332" "107691504" "del" "0" "00687" "COL4A5_001428" "g.107675332_107691504del" "" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "66+5840(COL4A6)_81+8068(COL4A5)del" "" "Germline" "" "" "0" "" "" "g.108432102_108448274del" "" "pathogenic" "" "0000354338" "1" "90" "X" "107597117" "107876494" "del" "0" "00687" "COL4A5_001426" "g.107597117_107876494del" "" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "66+84055(COL4A6)_3246+6915(COL4A5)del" "" "Germline" "" "" "0" "" "" "g.108353887_108633264del" "" "pathogenic" "" "0000354339" "1" "90" "X" "107595501" "107810418" "del" "0" "00687" "COL4A5_001427" "g.107595501_107810418del" "" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "66+85676(COL4A6)_276+3257(COL4A5)del" "" "Germline" "" "" "0" "" "" "g.108352271_108567188del" "" "pathogenic" "" "0000354340" "1" "90" "X" "107561696" "107876285" "del" "0" "00687" "COL4A5_001425" "g.107561696_107876285del" "" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "66+119476(COL4A6)_3246+6706(COL4A5)del" "" "Germline" "" "" "0" "" "" "g.108318466_108633055del" "" "pathogenic" "" "0000354341" "0" "90" "X" "0" "0" "" "0" "00687" "COL4A5_000000" "g.(?_107400229)_(107783036_107802293)" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "1-?_141+?del" "COL4A5 del ex1-2, COL4A6 del all ex" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000354342" "21" "90" "X" "107645024" "107685354" "del" "0" "00687" "COL4A5_001344" "g.107645024_107685354del" "" "{PMID:Liu 2015:26179878}, {DOI:Liu 2015:10.1186/s12881-015-0189-7}" "" "40 kb del ex1-2 COL4A6/ex1 COL4A5" "" "Germline" "" "" "0" "" "" "g.108401794_108442124del" "" "pathogenic" "" "0000354343" "0" "70" "X" "107683357" "107683361" "del" "0" "00687" "COL4A5_001455" "g.107683357_107683361del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108440127_108440131del" "" "likely pathogenic" "" "0000354344" "0" "70" "X" "107683357" "107683357" "subst" "0" "00687" "COL4A5_001453" "g.107683357T>A" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108440127T>A" "" "likely pathogenic" "" "0000354345" "0" "90" "X" "107683357" "107683357" "subst" "0" "00687" "COL4A5_001454" "g.107683357T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108440127T>C" "" "pathogenic" "" "0000354346" "0" "90" "X" "107683412" "107683413" "del" "0" "00687" "COL4A5_001457" "g.107683412_107683413del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108440182_108440183del" "" "pathogenic" "" "0000354347" "0" "90" "X" "107683438" "107683438" "dup" "0" "00687" "COL4A5_001458" "g.107683438dup" "" "" "" "81+1_81+2insT" "" "Germline" "" "" "0" "" "" "g.108440208dup" "" "pathogenic" "" "0000354348" "0" "70" "X" "107683440" "107683440" "subst" "0" "00687" "COL4A5_001459" "g.107683440A>C" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108440210A>C" "" "likely pathogenic" "" "0000354349" "0" "70" "X" "107782977" "107783036" "del" "0" "00687" "COL4A5_001460" "g.107782977_107783036del" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108539747_108539806del" "" "likely pathogenic" "" "0000354350" "0" "70" "X" "107782976" "107782976" "subst" "0" "00687" "COL4A5_001361" "g.107782976G>T" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.108539746G>T" "" "likely pathogenic" "" "0000354351" "0" "70" "X" "107782976" "107838831" "del" "0" "00687" "COL4A5_001461" "g.107782976_107838831del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "82-?_1516+?del" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000354352" "21" "90" "X" "107773341" "107950612" "del" "0" "00687" "COL4A5_001430" "g.107773341_107950612del" "" "{PMID:Sa 2013:23958657}, {DOI:Sa 2013:10.1136/jmedgenet-2013-101670}" "" "ex2-51 del, chrX:g.107773340_107950610del" "" "Germline" "" "" "0" "" "" "g.108530111_108707382del" "" "pathogenic" "" "0000354353" "0" "90" "X" "107783001" "107783001" "subst" "0" "00687" "COL4A5_001463" "g.107783001C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108539771C>G" "" "pathogenic" "" "0000354354" "0" "90" "X" "107802304" "107802304" "subst" "0" "00687" "COL4A5_001465" "g.107802304G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108559074G>T" "" "pathogenic" "" "0000354355" "0" "90" "X" "107802304" "107802304" "subst" "0" "00687" "COL4A5_001465" "g.107802304G>T" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108559074G>T" "" "pathogenic" "" "0000354356" "0" "90" "X" "107802339" "107802339" "subst" "0" "00687" "COL4A5_001368" "g.107802339G>T" "" "{PMID:Liu 2015:26274329}, {DOI:Liu 2015:10.1371/journal.pone.0133636}" "" "" "" "Germline" "" "" "0" "" "" "g.108559109G>T" "" "pathogenic" "" "0000354357" "0" "70" "X" "107802384" "107802384" "subst" "0" "00687" "COL4A5_000227" "g.107802384G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "IVS3+1G>A" "" "Germline" "" "" "0" "" "" "g.108559154G>A" "" "likely pathogenic" "" "0000354358" "0" "70" "X" "107811904" "107811905" "dup" "0" "00687" "COL4A5_001000" "g.107811904_107811905dup" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108568674_108568675dup" "" "likely pathogenic" "" "0000354359" "0" "90" "X" "107812007" "107812007" "subst" "0" "00687" "COL4A5_001468" "g.107812007G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108568777G>C" "" "pathogenic" "" "0000354360" "0" "70" "X" "107812035" "107812035" "subst" "0" "00687" "COL4A5_001005" "g.107812035G>A" "" "{PMID:Guo 2014:24522658}, {DOI:Guo 2014:10.1007/s11033-014-3227-1}" "" "" "" "Germline" "" "" "0" "" "" "g.108568805G>A" "" "likely pathogenic" "" "0000354361" "0" "70" "X" "107812051" "107812051" "subst" "0" "00687" "COL4A5_001469" "g.107812051G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108568821G>A" "" "likely pathogenic" "" "0000354362" "0" "70" "X" "107814670" "107814670" "subst" "5.59798E-6" "00687" "COL4A5_001471" "g.107814670G>A" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108571440G>A" "" "likely pathogenic" "" "0000354363" "0" "90" "X" "107814695" "107814695" "del" "0" "00687" "COL4A5_001472" "g.107814695del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108571465del" "" "pathogenic" "" "0000354364" "0" "90" "X" "107815069" "107815069" "subst" "0" "00687" "COL4A5_001477" "g.107815069T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108571839T>C" "" "pathogenic" "" "0000354365" "0" "90" "X" "107816814" "107816814" "subst" "0" "00687" "COL4A5_001480" "g.107816814G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108573584G>A" "" "pathogenic" "" "0000354366" "0" "70" "X" "107816838" "107816838" "del" "0" "00687" "COL4A5_001482" "g.107816838del" "" "{PMID:Xiu 2014:25110662}, {DOI:Xiu 2014:10.1155/2014/186048}" "" "499delC" "" "Germline" "" "" "0" "" "" "g.108573608del" "" "likely pathogenic" "" "0000354367" "0" "70" "X" "107819137" "107819137" "subst" "0" "00687" "COL4A5_001484" "g.107819137C>A" "" "{PMID:Chen 2016:26866448}, {DOI:Chen 2016:10.1089/gtmb.2015.0248}" "" "" "c.547– 3C>A at splice acceptor site of the intron 9/exon 10 boundary led to skipping of exon 10, and in-frame deletion of 21 amino acids from the a5 collagen IV chain. Inherited from mother. In total, 12 family members affected in 4 generations" "Germline" "" "" "0" "" "" "g.108575907C>A" "" "likely pathogenic" "" "0000354368" "0" "90" "X" "107819139" "107840799" "dup" "0" "00687" "COL4A5_001014" "g.(107816885_107819139)_(107840799_107841931)dup" "" "" "" "ex10-24 dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000354369" "0" "70" "X" "107819153" "107819154" "dup" "0" "00687" "COL4A5_001486" "g.107819153_107819154dup" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "560_561dupCC" "" "Germline" "" "" "0" "" "" "g.108575923_108575924dup" "" "likely pathogenic" "" "0000354370" "0" "90" "X" "107820077" "107820077" "subst" "0" "00687" "COL4A5_001436" "g.107820077G>T" "" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "" "IVS10+875g>t" "" "Germline" "" "" "0" "" "" "g.108576847G>T" "" "pathogenic" "" "0000354371" "0" "90" "X" "107821181" "107821181" "subst" "0" "00687" "COL4A5_001488" "g.107821181G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108577951G>C" "" "pathogenic" "" "0000354372" "0" "90" "X" "107821180" "107821180" "subst" "0" "00687" "COL4A5_000237" "g.107821180A>T" "" "{PMID:Nozu 2014:25183659 }, {PMID:Hashimura 2014:24304881}" "" "IVS11-2A>T" "" "Germline" "" "" "0" "" "" "g.108577950A>T" "" "pathogenic" "" "0000354373" "0" "90" "X" "107821324" "107821324" "del" "0" "00687" "COL4A5_001491" "g.107821324del" "" "" "" "662delA" "" "Germline" "" "" "0" "" "" "g.108578094del" "" "pathogenic" "" "0000354374" "0" "70" "X" "107821327" "107821327" "subst" "0" "00687" "COL4A5_000934" "g.107821327T>G" "" "{PMID:Wuttke 2015:26613025}, {DOI:Wuttke 2015:10.1093/ckj/sfv091}" "" "" "" "Germline" "" "" "0" "" "" "g.108578097T>G" "" "likely pathogenic" "" "0000354375" "0" "90" "X" "107821342" "107821342" "subst" "0" "00687" "COL4A5_001492" "g.107821342G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108578112G>A" "" "pathogenic" "" "0000354376" "0" "70" "X" "107821342" "107821342" "subst" "0" "00687" "COL4A5_001492" "g.107821342G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108578112G>A" "" "likely pathogenic" "" "0000354379" "0" "70" "X" "107821347" "107821347" "subst" "0" "00687" "COL4A5_001028" "g.107821347A>T" "" "{PMID:Adam 2014:24944784}, {DOI:Adam 2014:10.1093/ckj/sft144}" "" "" "" "Germline" "" "" "0" "" "" "g.108578117A>T" "" "likely pathogenic" "" "0000354380" "1" "70" "X" "107821350" "107821350" "subst" "0" "00687" "COL4A5_000239" "g.107821350G>A" "" "{PMID:Lin 2014:25381091}, {DOI:Lin 2014:10.1186/1471-2369-15-175}" "" "" "Digenic mutations c.687+1G>A and c.9206C>T. Aged 30 years, developed nephrotic syndrome. Variant c.687 + 1G > A was previously reported to cause XL Alport syndrome. COL4A5 (c.687 + 1G > A) cosegregated in all affected members in this family while the CUBN variant was not present in affected individuals II-3 and III-2, and was present in clinically unaffected individuals II-7 and III-3." "Germline" "" "" "0" "" "" "g.108578120G>A" "" "likely pathogenic" "" "0000354381" "0" "70" "X" "107821531" "107821531" "subst" "0" "00687" "COL4A5_001035" "g.107821531G>T" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108578301G>T" "" "likely pathogenic" "" "0000354382" "1" "70" "X" "107821618" "107821618" "subst" "0" "00687" "COL4A5_001494" "g.107821618G>A" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "? a digenic mode of transmission with a combination of intronic mutations in COL4A4 and COL4A5 on the basis of bioinformatic splicing tools. However, the minigene assay showed that the variant in COL4A4 did not affect splicing and that COL4A5 variant represents a ‘leaky’ splicing mutation. Therefore a case of X-linked inheritance caused by a hypomorphic allele" "Germline" "" "" "0" "" "" "g.108578388G>A" "" "likely pathogenic" "" "0000354383" "0" "90" "X" "107823778" "107823778" "subst" "0" "00687" "COL4A5_000028" "g.107823778C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108580548C>T" "" "pathogenic" "" "0000354384" "0" "70" "X" "107823778" "107823778" "subst" "0" "00687" "COL4A5_000028" "g.107823778C>T" "" "{PMID:Baek 2016:27410722}, {DOI;Baek 2016:10.1080/15513815.2016.1202362}" "" "" "" "Germline" "" "" "0" "" "" "g.108580548C>T" "" "likely pathogenic" "" "0000354385" "0" "70" "X" "107823783" "107823783" "dup" "0" "00687" "COL4A5_001495" "g.107823783dup" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108580553dup" "" "likely pathogenic" "" "0000354386" "0" "70" "X" "107823818" "107823818" "subst" "0" "00687" "COL4A5_001497" "g.107823818T>C" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108580588T>C" "" "likely pathogenic" "" "0000354387" "0" "90" "X" "107823922" "107823922" "del" "0" "00687" "COL4A5_001500" "g.107823922del" "" "" "" "845delG" "" "Germline" "" "" "0" "" "" "g.108580692del" "" "pathogenic" "" "0000354388" "0" "70" "X" "107823953" "107823953" "subst" "0" "00687" "COL4A5_001501" "g.107823953A>T" "" "{PMID:Fu 2016:26581810}, {DOI:Fu 2016:10.1007/s10157-015-1197-9}" "" "" "? Synonymous COL4A5 substitution being responsible for XL Alport syndrome. Transcript analysis showed that this mutation resulted in a synonymous amino acid change p.(Gly292Gly), potentially altering splicing because it disrupted the splicing factor binding site. This coudl be confirmed with transcript analysis and cDNA sequencing." "Germline" "" "" "0" "" "" "g.108580723A>T" "" "likely pathogenic" "" "0000354389" "0" "70" "X" "107823977" "107823977" "subst" "0" "00687" "COL4A5_001502" "g.107823977T>G" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108580747T>G" "" "likely pathogenic" "" "0000354390" "0" "90" "X" "107824225" "107824225" "subst" "0" "00687" "COL4A5_001504" "g.107824225A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108580995A>T" "" "pathogenic" "" "0000354391" "0" "90" "X" "107824225" "107824225" "subst" "0" "00687" "COL4A5_001504" "g.107824225A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108580995A>T" "" "pathogenic" "" "0000354392" "0" "70" "X" "107824241" "107824241" "subst" "0" "00687" "COL4A5_000566" "g.107824241G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108581011G>A" "" "likely pathogenic" "" "0000354393" "0" "70" "X" "107824258" "107824258" "subst" "0" "00687" "COL4A5_001506" "g.107824258G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108581028G>A" "" "likely pathogenic" "" "0000354394" "0" "90" "X" "107826115" "107826115" "subst" "0" "00687" "COL4A5_001508" "g.107826115G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108582885G>A" "" "pathogenic" "" "0000354395" "0" "90" "X" "107826124" "107826124" "subst" "0" "00687" "COL4A5_001509" "g.107826124G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108582894G>A" "" "pathogenic" "" "0000354396" "0" "70" "X" "107826124" "107826124" "subst" "0" "00687" "COL4A5_001509" "g.107826124G>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108582894G>A" "" "likely pathogenic" "" "0000354397" "0" "70" "X" "107826142" "107826142" "subst" "0" "00687" "COL4A5_001510" "g.107826142G>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108582912G>T" "" "likely pathogenic" "" "0000354398" "0" "70" "X" "107826142" "107826142" "subst" "0" "00687" "COL4A5_001510" "g.107826142G>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108582912G>T" "" "likely pathogenic" "" "0000354399" "0" "70" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "likely pathogenic" "" "0000354400" "0" "70" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "likely pathogenic" "" "0000354401" "0" "90" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "{PMID:Gast 2016:26346198}, {DOI:Gast 2016:10.1093/ndt/gfv325}" "" "" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "pathogenic" "" "0000354402" "0" "70" "X" "107826150" "107826150" "subst" "0" "00687" "COL4A5_000037" "g.107826150G>A" "" "{PMID:Gibson 2013:24472419 }, {DOI:Gibson 2013:10.1017/S0016672313000220}" "" "" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "likely pathogenic" "" "0000354403" "0" "70" "X" "107826157" "107826160" "del" "0" "00687" "COL4A5_001511" "g.107826157_107826160del" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "980_983delATGG" "" "Germline" "" "" "0" "" "" "g.108582927_108582930del" "" "likely pathogenic" "" "0000354404" "0" "90" "X" "107827724" "107827724" "subst" "0" "00687" "COL4A5_001514" "g.107827724G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108584494G>A" "" "pathogenic" "" "0000354405" "0" "90" "X" "107827724" "107827724" "subst" "0" "00687" "COL4A5_000567" "g.107827724G>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108584494G>T" "" "pathogenic" "" "0000354406" "0" "90" "X" "107827733" "107827733" "subst" "0" "00687" "COL4A5_001362" "g.107827733G>T" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.108584503G>T" "" "pathogenic" "" "0000354407" "0" "90" "X" "107827756" "107827756" "subst" "0" "00687" "COL4A5_001515" "g.107827756G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108584526G>T" "" "pathogenic" "" "0000354408" "0" "90" "X" "107829839" "107829839" "subst" "0" "00687" "COL4A5_001358" "g.107829839A>G" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.108586609A>G" "" "pathogenic" "" "0000354409" "0" "90" "X" "107829885" "107829886" "ins" "0" "00687" "COL4A5_001518" "g.107829885_107829886insC" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108586655_108586656insC" "" "pathogenic" "" "0000354410" "0" "70" "X" "107829887" "107829887" "subst" "0" "00687" "COL4A5_001519" "g.107829887G>A" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108586657G>A" "" "likely pathogenic" "" "0000354411" "0" "90" "X" "107829906" "107829906" "subst" "0" "00687" "COL4A5_000041" "g.107829906G>A" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.108586676G>A" "" "pathogenic" "" "0000354412" "0" "90" "X" "107829921" "107829922" "del" "0" "00687" "COL4A5_001522" "g.107829921_107829922del" "" "" "" "1109_1110delAA" "" "Germline" "" "" "0" "" "" "g.108586691_108586692del" "" "pathogenic" "" "0000354413" "0" "90" "X" "107829929" "107829929" "subst" "0" "00687" "COL4A5_000043" "g.107829929C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108586699C>T" "" "pathogenic" "" "0000354414" "0" "90" "X" "107829929" "107829929" "subst" "0" "00687" "COL4A5_000043" "g.107829929C>T" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "" "Germline" "" "" "0" "" "" "g.108586699C>T" "" "pathogenic" "" "0000354415" "0" "90" "X" "107829933" "107829933" "subst" "0" "00687" "COL4A5_001060" "g.107829933G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108586703G>T" "" "pathogenic" "" "0000354416" "0" "90" "X" "107829977" "107829977" "subst" "0" "00687" "COL4A5_001523" "g.107829977G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108586747G>A" "" "pathogenic" "" "0000354417" "0" "90" "X" "107829977" "107829977" "subst" "0" "00687" "COL4A5_001523" "g.107829977G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108586747G>A" "" "pathogenic" "" "0000354418" "0" "90" "X" "107827713" "107827713" "subst" "0" "00687" "COL4A5_001440" "g.107827713G>A" "" "{PMID:Nozu 2014:25183659 }, {PMID:Hashimura 2014:24304881}" "" "IVS18-1G>A" "Cryptic splice site produced" "Germline" "" "" "0" "" "" "g.108584483G>A" "" "pathogenic" "" "0000354419" "0" "90" "X" "107834287" "107834875" "del" "0" "00687" "COL4A5_000667" "g.(107829978_107834287)_(107834875_107838738)del" "" "" "" "1166_1423del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000354420" "0" "90" "X" "107834330" "107834330" "subst" "0" "00687" "COL4A5_001524" "g.107834330G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108591100G>A" "" "pathogenic" "" "0000354421" "0" "90" "X" "107834348" "107834348" "subst" "0" "00687" "COL4A5_000050" "g.107834348G>A" "" "{PMID:Zholdybayeva 2014:25572247}" "" "" "" "Germline" "" "" "0" "" "" "g.108591118G>A" "" "pathogenic" "" "0000354422" "0" "90" "X" "107834348" "107834348" "subst" "0" "00687" "COL4A5_001075" "g.107834348G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108591118G>T" "" "pathogenic" "" "0000354423" "0" "90" "X" "107834355" "107834355" "dup" "0" "00687" "COL4A5_001525" "g.107834355dup" "" "" "" "1233dupA" "" "Germline" "" "" "0" "" "" "g.108591125dup" "" "pathogenic" "" "0000354424" "0" "70" "X" "107834368" "107834391" "del" "0" "00687" "COL4A5_001528" "g.107834368_107834391del" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "1246_1269delATTTCCATTCCTGGACCTCCTGGA" "" "Germline" "" "" "0" "" "" "g.108591138_108591161del" "" "likely pathogenic" "" "0000354425" "0" "90" "X" "107834827" "107834827" "dup" "0" "00687" "COL4A5_001532" "g.107834827dup" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "1376dupC" "" "Germline" "" "" "0" "" "" "g.108591597dup" "" "pathogenic" "" "0000354426" "0" "90" "X" "107834853" "107834853" "subst" "0" "00687" "COL4A5_001535" "g.107834853C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108591623C>T" "" "pathogenic" "" "0000354427" "0" "90" "X" "107802293" "107938152" "del" "0" "00687" "COL4A5_001452" "g.(107783036_107802293)_(107938152_107938496)del" "" "" "" "142_4821del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000354428" "0" "70" "X" "107838814" "107838814" "subst" "0" "00687" "COL4A5_001540" "g.107838814G>T" "" "{PMID:Fernandez-Rosado 2015:26063487}, {DOIFernandez-Rosado 2015:10.1111/nep.12486}" "" "" "" "Germline" "" "" "0" "" "" "g.108595584G>T" "" "likely pathogenic" "" "0000354429" "0" "50" "X" "107840237" "107840237" "subst" "0" "00687" "COL4A5_001545" "g.107840237G>A" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108597007G>A" "" "VUS" "" "0000354430" "0" "90" "X" "107840263" "107840263" "subst" "0" "00687" "COL4A5_001546" "g.107840263G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597033G>A" "" "pathogenic" "" "0000354431" "0" "90" "X" "107840303" "107840303" "subst" "0" "00687" "COL4A5_001547" "g.107840303G>C" "" "" "" "IVS23+5G>C" "" "Germline" "" "" "0" "" "" "g.108597073G>C" "" "pathogenic" "" "0000354432" "0" "90" "X" "107840303" "107840303" "subst" "0" "00687" "COL4A5_001547" "g.107840303G>C" "" "" "" "IVS23+5G>C" "" "Germline" "" "" "0" "" "" "g.108597073G>C" "" "pathogenic" "" "0000354433" "0" "90" "X" "107840303" "107840303" "subst" "0" "00687" "COL4A5_001547" "g.107840303G>C" "" "" "" "IVS23+5G>C" "" "Germline" "" "" "0" "" "" "g.108597073G>C" "" "pathogenic" "" "0000354434" "0" "90" "X" "107840303" "107840303" "subst" "0" "00687" "COL4A5_001547" "g.107840303G>C" "" "" "" "IVS23+5G>C" "" "Germline" "" "" "0" "" "" "g.108597073G>C" "" "pathogenic" "" "0000354435" "0" "90" "X" "107840643" "107840643" "subst" "0" "00687" "COL4A5_001548" "g.107840643G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597413G>A" "" "pathogenic" "" "0000354436" "0" "90" "X" "107840764" "107840764" "subst" "0" "00687" "COL4A5_001555" "g.107840764G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597534G>A" "" "pathogenic" "" "0000354437" "0" "50" "X" "107840788" "107840788" "subst" "0" "00687" "COL4A5_001556" "g.107840788A>C" "" "{PMID:Liu 2015:26274329}, {DOI:Liu 2015:10.1371/journal.pone.0133636}" "" "" "" "Germline" "" "" "0" "" "" "g.108597558A>C" "" "VUS" "" "0000354438" "0" "90" "X" "107841931" "107841931" "subst" "0" "00687" "COL4A5_001357" "g.107841931G>T" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.108598701G>T" "" "pathogenic" "" "0000354439" "0" "90" "X" "107842074" "107842074" "subst" "0" "00687" "COL4A5_001563" "g.107842074G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108598844G>T" "" "pathogenic" "" "0000354440" "0" "70" "X" "107841951" "107841951" "subst" "0" "00687" "COL4A5_001557" "g.107841951G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108598721G>A" "" "likely pathogenic" "" "0000354441" "0" "90" "X" "107841978" "107841978" "subst" "0" "00687" "COL4A5_001116" "g.107841978G>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108598748G>A" "" "pathogenic" "" "0000354442" "0" "70" "X" "107841998" "107842006" "del" "0" "00687" "COL4A5_001558" "g.107841998_107842006del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108598768_108598776del" "" "likely pathogenic" "" "0000354443" "0" "90" "X" "107842013" "107842013" "subst" "0" "00687" "COL4A5_000083" "g.107842013G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108598783G>T" "" "pathogenic" "" "0000354444" "0" "70" "X" "107842014" "107842014" "subst" "0" "00687" "COL4A5_001560" "g.107842014G>T" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108598784G>T" "" "likely pathogenic" "" "0000354445" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000354446" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Demosthenous 2012:21332469}, {DOI:Demosthenous 2012:10.1111/j.1399-0004.2011.01647.x}" "" "" "The mutation is positioned immediately before the 12th tripeptide Gly-X-Y interruption which is of G1G type, thereby converting it to a G4G interruption in the collagenous domain. It has been described before as mild. Males from the family develop late-onset renal failure. One male reached ESRD at the age of 39 with hearing loss. Another affected male had haematuria and proteinuria with hearing loss, and normal serum creatinine but diffuse leiomyomatosis, at the age of 30." "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000354448" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000354449" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000354450" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000354451" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000354452" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000354453" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000354454" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000354455" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000354456" "0" "70" "X" "107842035" "107842035" "subst" "0" "00687" "COL4A5_000936" "g.107842035C>T" "" "{PMID:Demosthenous 2012:21332469}, {DOI:Demosthenous 2012:10.1111/j.1399-0004.2011.01647.x}" "" "" "glycine preceding this Y-position proline is the first after the 12th natural interruption, G1G, of the collagenous domain. This mutation also shows a milder phenotype. Amongst eight men with the mutation, five developed ESRD at ages 30, 34, 37, 45 and 57." "Germline" "" "" "0" "" "" "g.108598805C>T" "" "likely pathogenic" "" "0000354457" "0" "70" "X" "107842046" "107842046" "subst" "0" "00687" "COL4A5_001562" "g.107842046G>C" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108598816G>C" "" "likely pathogenic" "" "0000354458" "0" "90" "X" "107842064" "107842064" "subst" "0" "00687" "COL4A5_000090" "g.107842064G>A" "" "{PMID:Fu 2016:26014433}, {DOI:Fu 2016:10.1038/ejhg.2015.113}" "" "" "" "Germline" "" "" "0" "" "" "g.108598834G>A" "" "pathogenic" "" "0000354459" "0" "50" "X" "107842065" "107842065" "subst" "0" "00687" "COL4A5_000798" "g.107842065G>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108598835G>A" "" "VUS" "" "0000354460" "0" "70" "X" "107842074" "107842074" "subst" "0" "00687" "COL4A5_001564" "g.107842074G>A" "" "{PMID:Bailara 2015:26168235}, {DOI:Bailara 2015:10.1371/journal.pone.0132010}" "" "" "The mutation was found only in two affected family individuals (another 4 affected family members died without sequencing) but was not present in healthy family members or 200 unrelated healthy controls." "Germline" "" "" "0" "" "" "g.108598844G>A" "" "likely pathogenic" "" "0000354461" "1" "90" "X" "107842083" "107842083" "subst" "0" "00687" "COL4A5_001121" "g.107842083G>A" "" "{PMID:Mencarelli 2015:25575550}, {PMID:Moriniere 2014:24854265}" "" "" "" "Germline" "" "" "0" "" "" "g.108598853G>A" "" "pathogenic" "" "0000354464" "0" "90" "X" "107842994" "107842994" "subst" "0" "00687" "COL4A5_001438" "g.107842994C>G" "" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "" "IVS25+894C>G" "" "Germline" "" "" "0" "" "" "g.108599764C>G" "" "pathogenic" "" "0000354465" "0" "70" "X" "107844621" "107844621" "subst" "0" "00687" "COL4A5_001566" "g.107844621A>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108601391A>T" "" "likely pathogenic" "" "0000354466" "0" "90" "X" "107844631" "107844631" "subst" "0" "00687" "COL4A5_001568" "g.107844631G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108601401G>T" "" "pathogenic" "" "0000354467" "0" "90" "X" "107844679" "107844679" "subst" "0" "00687" "COL4A5_001571" "g.107844679G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108601449G>A" "" "pathogenic" "" "0000354468" "0" "90" "X" "107844679" "107844679" "subst" "0" "00687" "COL4A5_001571" "g.107844679G>A" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "" "Germline" "" "" "0" "" "" "g.108601449G>A" "" "pathogenic" "" "0000354469" "0" "90" "X" "107844689" "107844689" "subst" "0" "00687" "COL4A5_001572" "g.107844689G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108601459G>A" "" "pathogenic" "" "0000354470" "0" "90" "X" "107844698" "107844698" "subst" "0" "00687" "COL4A5_001574" "g.107844698G>A" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "" "Germline" "" "" "0" "" "" "g.108601468G>A" "" "pathogenic" "" "0000354471" "0" "90" "X" "107845113" "107845113" "subst" "0" "00687" "COL4A5_001577" "g.107845113A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108601883A>G" "" "pathogenic" "" "0000354472" "0" "90" "X" "107845168" "107845168" "subst" "0" "00687" "COL4A5_001580" "g.107845168G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108601938G>T" "" "pathogenic" "" "0000354473" "1" "90" "X" "107845115" "107845115" "subst" "0" "00687" "COL4A5_000096" "g.107845115G>A" "" "{PMID:Feltran 2017:28658201}, {DOI:Feltran 2017:10.1097/TP.0000000000001846}" "" "" "" "Germline" "" "" "0" "" "" "g.108601885G>A" "" "pathogenic" "" "0000354474" "1" "90" "X" "107845124" "107845124" "subst" "0" "00687" "COL4A5_000098" "g.107845124G>T" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.108601894G>T" "" "pathogenic" "" "0000354477" "0" "70" "X" "107845150" "107845150" "subst" "0" "00687" "COL4A5_001579" "g.107845150G>A" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108601920G>A" "" "likely pathogenic" "" "0000354478" "0" "90" "X" "107845169" "107845169" "subst" "0" "00687" "COL4A5_001581" "g.107845169G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108601939G>A" "" "pathogenic" "" "0000354479" "0" "70" "X" "107845218" "107845218" "subst" "0" "00687" "COL4A5_001583" "g.107845218A>G" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108601988A>G" "" "likely pathogenic" "" "0000354480" "0" "90" "X" "107845097" "107845097" "subst" "0" "00687" "COL4A5_000600" "g.107845097A>G" "" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "" "IVS27-18A>G" "" "Germline" "" "" "0" "" "" "g.108601867A>G" "" "pathogenic" "" "0000354481" "0" "70" "X" "107846192" "107846192" "subst" "0" "00687" "COL4A5_000602" "g.107846192A>G" "" "{PMID:Fu 2016:26014433}, {DOI:Fu 2016:10.1038/ejhg.2015.113}" "" "IVS27-2A>G" "Transcriptional analysis demonstrated that this variant caused skipping of part of exon 28 (18 bp)" "Germline" "" "" "0" "" "" "g.108602962A>G" "" "likely pathogenic" "" "0000354482" "0" "90" "X" "107846231" "107846231" "del" "0" "00687" "COL4A5_001586" "g.107846231del" "" "" "" "2184delG" "" "Germline" "" "" "0" "" "" "g.108603001del" "" "pathogenic" "" "0000354483" "0" "90" "X" "107846262" "107846262" "subst" "0.00111952" "00687" "COL4A5_000102" "g.107846262C>G" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "" "Germline" "" "" "0" "" "" "g.108603032C>G" "" "pathogenic" "" "0000354484" "0" "70" "X" "107846284" "107846284" "subst" "0" "00687" "COL4A5_001587" "g.107846284G>A" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108603054G>A" "" "likely pathogenic" "" "0000354485" "0" "70" "X" "107849932" "107849932" "subst" "0" "00687" "COL4A5_001588" "g.107849932A>G" "" "{PMID:Chiereghin 2017:28570636}, {DOI:Chiereghin 2017:10.1371/journal.pone.0178630}" "" "" "NM_000495.4:c.2245-40A>G. The variant is present in proband’s mother and daughter, and absent from her unaffected siblings. The peculiar location of this variant suggested it might affect the branch-point sequence, a conserved signal important for spliceosome assembly and lariat formation." "Germline" "" "" "0" "" "" "g.108606702A>G" "" "likely pathogenic" "" "0000354486" "0" "70" "X" "107849958" "107849958" "subst" "0" "00687" "COL4A5_001589" "g.107849958T>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108606728T>A" "" "likely pathogenic" "" "0000354487" "0" "90" "X" "107846192" "107846192" "subst" "0" "00687" "COL4A5_000602" "g.107846192A>G" "" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "" "IVS28-2A>G" "" "Germline" "" "" "0" "" "" "g.108602962A>G" "" "pathogenic" "" "0000354488" "0" "90" "X" "107849971" "107849971" "subst" "0" "00687" "COL4A5_000254" "g.107849971G>A" "" "Unknown" "" "" "" "Germline" "" "" "0" "" "" "g.108606741G>A" "" "pathogenic" "" "0000354489" "0" "70" "X" "107849991" "107849991" "subst" "0" "00687" "COL4A5_001591" "g.107849991T>G" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108606761T>G" "" "likely pathogenic" "" "0000354490" "0" "70" "X" "107850024" "107850024" "subst" "0" "00687" "COL4A5_001146" "g.107850024G>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108606794G>T" "" "likely pathogenic" "" "0000354491" "0" "90" "X" "107850057" "107850057" "subst" "0" "00687" "COL4A5_001594" "g.107850057G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108606827G>C" "" "pathogenic" "" "0000354492" "0" "70" "X" "107850123" "107850123" "subst" "0" "00687" "COL4A5_001359" "g.107850123G>A" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.108606893G>A" "" "likely pathogenic" "" "0000354493" "0" "90" "X" "107850124" "107850124" "subst" "0" "00687" "COL4A5_001596" "g.107850124T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108606894T>A" "" "pathogenic" "" "0000354494" "0" "90" "X" "107849964" "107849964" "subst" "0" "00687" "COL4A5_001441" "g.107849964T>A" "" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "" "IVS29-8T>A" "" "Germline" "" "" "0" "" "" "g.108606734T>A" "" "pathogenic" "" "0000354495" "0" "70" "X" "107858140" "107858140" "subst" "0" "00687" "COL4A5_001597" "g.107858140G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108614910G>A" "" "likely pathogenic" "" "0000354496" "0" "70" "X" "107858140" "107858140" "subst" "0" "00687" "COL4A5_001597" "g.107858140G>A" "" "Beicht S, Gene 526 (2013) 474–477" "" "" "The mutation(c.2396-1G>A (IVS29-1G>A) at the splice acceptor site of the intron 29 exon 30 boundary of COL4A5 was detected by Next Generation Sequencing in the somatic mosaicism proband\'s mother, but not by Sanger Sequencing" "Germline" "" "" "0" "" "" "g.108614910G>A" "" "likely pathogenic" "" "0000354497" "0" "90" "X" "107858140" "107858140" "subst" "0" "00687" "COL4A5_001598" "g.107858140G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108614910G>T" "" "pathogenic" "" "0000354498" "0" "70" "X" "107858159" "107858159" "subst" "0" "00687" "COL4A5_001150" "g.107858159G>T" "" "{PMID:Liu 2015:26274329}, {DOI:Liu 2015:10.1371/journal.pone.0133636}" "" "" "" "Germline" "" "" "0" "" "" "g.108614929G>T" "" "likely pathogenic" "" "0000354499" "0" "90" "X" "107858170" "107858173" "del" "0" "00687" "COL4A5_001600" "g.107858170_107858173del" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "2425_2428delCCAA" "" "Germline" "" "" "0" "" "" "g.108614940_108614943del" "" "pathogenic" "" "0000354500" "0" "90" "X" "107858189" "107858192" "del" "0" "00687" "COL4A5_001601" "g.107858189_107858192del" "" "" "" "2444_2447delTGCC" "" "Germline" "" "" "0" "" "" "g.108614959_108614962del" "" "pathogenic" "" "0000354501" "0" "70" "X" "107858227" "107858227" "subst" "0" "00687" "COL4A5_001603" "g.107858227G>A" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108614997G>A" "" "likely pathogenic" "" "0000354502" "0" "90" "X" "107863489" "107863489" "subst" "0" "00687" "COL4A5_001160" "g.107863489G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620259G>T" "" "pathogenic" "" "0000354503" "0" "70" "X" "107863525" "107863525" "subst" "0" "00687" "COL4A5_001608" "g.107863525G>A" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108620295G>A" "" "likely pathogenic" "" "0000354504" "0" "90" "X" "107863566" "107863566" "subst" "0" "00687" "COL4A5_001609" "g.107863566G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620336G>A" "" "pathogenic" "" "0000354505" "0" "70" "X" "107863568" "107863639" "del" "0" "00687" "COL4A5_001610" "g.107863568_107863639del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108620338_108620409del" "" "likely pathogenic" "" "0000354506" "0" "90" "X" "107863576" "107863576" "subst" "0" "00687" "COL4A5_000118" "g.107863576G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620346G>A" "" "pathogenic" "" "0000354507" "0" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000354509" "0" "70" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "likely pathogenic" "" "0000354510" "1" "70" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "likely pathogenic" "" "0000354512" "0" "90" "X" "107863612" "107863612" "subst" "0" "00687" "COL4A5_001611" "g.107863612G>A" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "" "Germline" "" "" "0" "" "" "g.108620382G>A" "" "pathogenic" "" "0000354513" "0" "90" "X" "107865086" "107865086" "subst" "0" "00687" "COL4A5_001615" "g.107865086G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108621856G>A" "" "pathogenic" "" "0000354514" "0" "70" "X" "107865096" "107865096" "subst" "0" "00687" "COL4A5_001360" "g.107865096G>A" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.108621866G>A" "" "likely pathogenic" "" "0000354515" "0" "70" "X" "107865120" "107865121" "inv" "0" "00687" "COL4A5_001616" "g.107865120_107865121inv" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "2765_2766delinsTT" "" "Germline" "" "" "0" "" "" "g.108621890_108621891inv" "" "likely pathogenic" "" "0000354516" "0" "70" "X" "107865122" "107865122" "subst" "0" "00687" "COL4A5_001617" "g.107865122G>C" "" "{PMID:Abe 2016:27725546}, {DOI:Abe 2016:10.2169/internalmedicine.55.6873}" "" "" "" "Germline" "" "" "0" "" "" "g.108621892G>C" "" "likely pathogenic" "" "0000354517" "21" "90" "X" "107865676" "107866042" "del" "0" "00687" "COL4A5_001443" "g.107865676_107866042del" "" "{PMID:Nozu 2014:25333070}, {DOI:Nozu 2014:10.1002/mgg3.89}" "" "2768-230_2904del367" "new exon includes an AluY-derived intron sequence" "Germline" "" "" "0" "" "" "g.108622446_108622812del" "" "pathogenic" "" "0000354518" "0" "10" "X" "107865895" "107865895" "subst" "0.16126" "00687" "COL4A5_000420" "g.107865895A>G" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "IVS32-11A>G" "" "Germline" "" "" "0" "" "" "g.108622665A>G" "" "benign" "" "0000354519" "0" "90" "X" "107865939" "107865939" "del" "0" "00687" "COL4A5_001619" "g.107865939del" "" "" "" "2801delC" "" "Germline" "" "" "0" "" "" "g.108622709del" "" "pathogenic" "" "0000354520" "0" "70" "X" "107865960" "107865960" "subst" "0" "00687" "COL4A5_001620" "g.107865960G>A" "" "{PMID:Chiereghin 2017:28570636}, {DOI:Chiereghin 2017:10.1371/journal.pone.0178630}" "" "" "present in the hemizygous state in the proband as well as in the affected male cousin (IV1), and in the heterozygous state in all affected female relatives. In addition, the identified missense variant is absent both in an in-house database of ~3,500 ethnically-matched control exomes and in the ExAC browser , suggesting that it likely represents a private mutation" "Germline" "" "" "0" "" "" "g.108622730G>A" "" "likely pathogenic" "" "0000354521" "0" "70" "X" "107865969" "107865969" "del" "0" "00687" "COL4A5_001621" "g.107865969del" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108622739del" "" "likely pathogenic" "" "0000354522" "0" "50" "X" "107865996" "107865996" "subst" "0.0034612" "00687" "COL4A5_000132" "g.107865996G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108622766G>T" "" "VUS" "" "0000354523" "1" "70" "X" "107865996" "107865996" "subst" "0.0034612" "00687" "COL4A5_000132" "g.107865996G>T" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "Her 17 year old son has c.3817+1G>T(COL4A4) with haematuria" "Germline" "" "" "0" "" "" "g.108622766G>T" "" "likely pathogenic" "" "0000354524" "0" "70" "X" "107867465" "107867465" "subst" "0" "00687" "COL4A5_001622" "g.107867465G>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108624235G>A" "" "likely pathogenic" "" "0000354525" "0" "70" "X" "107867465" "107867465" "subst" "0" "00687" "COL4A5_001623" "g.107867465G>C" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108624235G>C" "" "likely pathogenic" "" "0000354526" "0" "70" "X" "107867466" "107867466" "subst" "0" "00687" "COL4A5_001624" "g.107867466G>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108624236G>A" "" "likely pathogenic" "" "0000354527" "0" "70" "X" "107867495" "107867495" "del" "0" "00687" "COL4A5_001625" "g.107867495del" "" "{PMID:Demosthenous 2012:21332469}, {DOI:Demosthenous 2012:10.1111/j.1399-0004.2011.01647.x}" "" "2946delT" "" "Germline" "" "" "0" "" "" "g.108624265del" "" "likely pathogenic" "" "0000354528" "0" "70" "X" "107867524" "107867530" "del" "0" "00687" "COL4A5_001627" "g.107867524_107867530del" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "2976_2982delACCTGGA" "" "Germline" "" "" "0" "" "" "g.108624294_108624300del" "" "likely pathogenic" "" "0000354529" "0" "50" "X" "107868934" "107869580" "dup" "0" "00687" "COL4A5_001189" "g.(107867565_107868934)_(107869580_107898560)dup" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "3016_3246dup" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000354530" "0" "70" "X" "107868989" "107868989" "subst" "0" "00687" "COL4A5_001631" "g.107868989G>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108625759G>A" "" "likely pathogenic" "" "0000354531" "0" "70" "X" "107869006" "107869006" "subst" "0" "00687" "COL4A5_000137" "g.107869006G>A" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "" "Germline" "" "" "0" "" "" "g.108625776G>A" "" "likely pathogenic" "" "0000354532" "0" "70" "X" "107869006" "107869006" "subst" "0" "00687" "COL4A5_001632" "g.107869006G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108625776G>C" "" "likely pathogenic" "" "0000354533" "0" "90" "X" "107869024" "107869024" "subst" "0" "00687" "COL4A5_001635" "g.107869024G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108625794G>A" "" "pathogenic" "" "0000354534" "0" "70" "X" "107869487" "107869487" "subst" "0" "00687" "COL4A5_001198" "g.107869487C>T" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108626257C>T" "" "likely pathogenic" "" "0000354535" "0" "70" "X" "107869512" "107869512" "subst" "0" "00687" "COL4A5_001637" "g.107869512G>A" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "" "Germline" "" "" "0" "" "" "g.108626282G>A" "" "likely pathogenic" "" "0000354536" "0" "70" "X" "107869539" "107869539" "subst" "0" "00687" "COL4A5_001638" "g.107869539G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108626309G>A" "" "likely pathogenic" "" "0000354537" "0" "70" "X" "107869560" "107869560" "del" "0" "00687" "COL4A5_001639" "g.107869560del" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "3227delC" "" "Germline" "" "" "0" "" "" "g.108626330del" "" "likely pathogenic" "" "0000354538" "0" "70" "X" "107869580" "107869580" "subst" "0" "00687" "COL4A5_001640" "g.107869580G>A" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108626350G>A" "" "likely pathogenic" "" "0000354539" "0" "70" "X" "107898633" "107898633" "subst" "0" "00687" "COL4A5_000153" "g.107898633G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108655403G>A" "" "likely pathogenic" "" "0000354540" "0" "90" "X" "107898642" "107898643" "ins" "0" "00687" "COL4A5_001641" "g.107898642_107898643insCAAACCAG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108655412_108655413insCAAACCAG" "" "pathogenic" "" "0000354541" "0" "90" "X" "107898649" "107898649" "dup" "0" "00687" "COL4A5_001642" "g.107898649dup" "" "" "" "3335dupC" "" "Germline" "" "" "0" "" "" "g.108655419dup" "" "pathogenic" "" "0000354542" "0" "90" "X" "107908809" "107908809" "subst" "0" "00687" "COL4A5_001643" "g.107908809G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108665579G>A" "" "pathogenic" "" "0000354543" "0" "90" "X" "107909750" "107909750" "dup" "0" "00687" "COL4A5_001647" "g.107909750dup" "" "" "" "3479dupC" "" "Germline" "" "" "0" "" "" "g.108666520dup" "" "pathogenic" "" "0000354544" "0" "70" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "{PMID:Crespo 2015:25869794}, {DOI:Crespo 2015:10.1136/jclinpath-2015-202953}" "" "" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "likely pathogenic" "" "0000354545" "0" "90" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "pathogenic" "" "0000354546" "0" "70" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "{PMID:Gast 2016:26346198}, {DOI:Gast 2016:10.1093/ndt/gfv325}" "" "" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "likely pathogenic" "" "0000354547" "0" "70" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "{PMID:Adam 2014:24944784}, {DOI:Adam 2014:10.1093/ckj/sft144}" "" "" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "likely pathogenic" "" "0000354548" "0" "70" "X" "107909780" "107909780" "subst" "0" "00687" "COL4A5_001651" "g.107909780G>T" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "" "Germline" "" "" "0" "" "" "g.108666550G>T" "" "likely pathogenic" "" "0000354549" "0" "90" "X" "107909782" "107909782" "subst" "0" "00687" "COL4A5_001652" "g.107909782C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108666552C>T" "" "pathogenic" "" "0000354550" "0" "70" "X" "107909815" "107909815" "subst" "0" "00687" "COL4A5_001230" "g.107909815G>A" "" "{DOI:de Godoy 2013:10.5935/0034-7280.20160079}" "" "" "" "Germline" "" "" "0" "" "" "g.108666585G>A" "" "likely pathogenic" "" "0000354551" "0" "70" "X" "107909816" "107909816" "subst" "0" "00687" "COL4A5_001653" "g.107909816G>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108666586G>T" "" "likely pathogenic" "" "0000354552" "0" "90" "X" "107909725" "107909725" "subst" "0" "00687" "COL4A5_001439" "g.107909725G>A" "" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "IVS39-1G>A" "" "Germline" "" "" "0" "" "" "g.108666495G>A" "" "pathogenic" "" "0000354553" "0" "90" "X" "107910405" "107910405" "subst" "0" "00687" "COL4A5_001656" "g.107910405G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108667175G>A" "" "pathogenic" "" "0000354554" "0" "90" "X" "107910405" "107910405" "subst" "0" "00687" "COL4A5_001657" "g.107910405G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108667175G>T" "" "pathogenic" "" "0000354555" "0" "90" "X" "107910414" "107910414" "subst" "0" "00687" "COL4A5_001658" "g.107910414G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108667184G>T" "" "pathogenic" "" "0000354556" "0" "90" "X" "107910415" "107910415" "subst" "0" "00687" "COL4A5_001233" "g.107910415T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108667185T>C" "" "pathogenic" "" "0000354557" "0" "90" "X" "107910415" "107910415" "subst" "0" "00687" "COL4A5_001233" "g.107910415T>C" "" "" "" "IVS40+2T>C" "" "Germline" "" "" "0" "" "" "g.108667185T>C" "" "pathogenic" "" "0000354558" "0" "90" "X" "107910416" "107910416" "subst" "0" "00687" "COL4A5_001660" "g.107910416A>C" "" "" "" "IVS40+3A>C" "" "Germline" "" "" "0" "" "" "g.108667186A>C" "" "pathogenic" "" "0000354559" "0" "70" "X" "107911547" "107911547" "subst" "0" "00687" "COL4A5_001661" "g.107911547A>C" "" "{PMID:Nishida 2016:26554353}, {DOI:Nishida 2016:10.1111/ped.12743}" "" "IV, 8bpdel" "" "Germline" "" "" "0" "" "" "g.108668317A>C" "" "likely pathogenic" "" "0000354560" "0" "90" "X" "107911558" "107911558" "subst" "0" "00687" "COL4A5_001662" "g.107911558G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108668328G>A" "" "pathogenic" "" "0000354561" "0" "90" "X" "107911558" "107911558" "subst" "0" "00687" "COL4A5_001662" "g.107911558G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108668328G>A" "" "pathogenic" "" "0000354562" "0" "90" "X" "107911566" "107911566" "subst" "0" "00687" "COL4A5_001663" "g.107911566G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108668336G>C" "" "pathogenic" "" "0000354563" "0" "70" "X" "107911629" "107911629" "subst" "0" "00687" "COL4A5_001238" "g.107911629G>A" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "" "Germline" "" "" "0" "" "" "g.108668399G>A" "" "likely pathogenic" "" "0000354564" "0" "70" "X" "107911629" "107911629" "subst" "0" "00687" "COL4A5_001238" "g.107911629G>A" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "" "Germline" "" "" "0" "" "" "g.108668399G>A" "" "likely pathogenic" "" "0000354565" "0" "70" "X" "107911629" "107911629" "subst" "0" "00687" "COL4A5_001665" "g.107911629G>T" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108668399G>T" "" "likely pathogenic" "" "0000354566" "0" "90" "X" "107911648" "107911648" "subst" "0" "00687" "COL4A5_001666" "g.107911648G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108668418G>A" "" "pathogenic" "" "0000354567" "0" "90" "X" "107911654" "107911654" "del" "0" "00687" "COL4A5_001667" "g.107911654del" "" "" "" "3710delC" "" "Germline" "" "" "0" "" "" "g.108668424del" "" "pathogenic" "" "0000354568" "0" "70" "X" "107911665" "107911665" "subst" "0" "00687" "COL4A5_001241" "g.107911665G>C" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108668435G>C" "" "likely pathogenic" "" "0000354569" "0" "70" "X" "107911704" "107911720" "del" "0" "00687" "COL4A5_001670" "g.107911704_107911720del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108668474_108668490del" "" "likely pathogenic" "" "0000354570" "0" "90" "X" "107911734" "107911734" "subst" "0" "00687" "COL4A5_001442" "g.107911734G>A" "" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "" "" "" "Germline" "" "" "0" "" "" "g.108668504G>A" "" "pathogenic" "" "0000354571" "0" "70" "X" "107911735" "107911735" "subst" "0" "00687" "COL4A5_001673" "g.107911735G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108668505G>T" "" "likely pathogenic" "" "0000354572" "0" "90" "X" "107911735" "107911735" "subst" "0" "00687" "COL4A5_001673" "g.107911735G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108668505G>T" "" "pathogenic" "" "0000354573" "0" "70" "X" "107911734" "107923980" "dup" "0" "00687" "COL4A5_001672" "g.107911734_107923980dup" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000354574" "0" "90" "X" "107920748" "107920748" "subst" "0" "00687" "COL4A5_001675" "g.107920748G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108677518G>T" "" "pathogenic" "" "0000354575" "0" "90" "X" "107920789" "107920789" "subst" "0" "00687" "COL4A5_001676" "g.107920789A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108677559A>T" "" "pathogenic" "" "0000354576" "0" "70" "X" "107920838" "107920838" "del" "0" "00687" "COL4A5_001677" "g.107920838del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "3917delG" "" "Germline" "" "" "0" "" "" "g.108677608del" "" "likely pathogenic" "" "0000354577" "0" "70" "X" "107923924" "107923924" "subst" "0.000308555" "00687" "COL4A5_000441" "g.107923924C>T" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "" "Germline" "" "" "0" "" "" "g.108680694C>T" "" "likely pathogenic" "" "0000354578" "0" "90" "X" "107924116" "107925119" "del" "0" "00687" "COL4A5_001679" "g.107924116_107925119del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108680886_108681889del" "" "pathogenic" "" "0000354579" "1" "70" "X" "107924141" "107924141" "subst" "0" "00687" "COL4A5_001680" "g.107924141G>A" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.108680911G>A" "" "likely pathogenic" "" "0000354580" "0" "90" "X" "107924166" "107924166" "del" "0" "00687" "COL4A5_001681" "g.107924166del" "" "" "" "4067delC" "" "Germline" "" "" "0" "" "" "g.108680936del" "" "pathogenic" "" "0000354581" "0" "70" "X" "107924171" "107924171" "subst" "0.000123363" "00687" "COL4A5_001683" "g.107924171C>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108680941C>A" "" "likely pathogenic" "" "0000354582" "0" "70" "X" "107924177" "107924177" "subst" "0" "00687" "COL4A5_001684" "g.107924177G>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108680947G>T" "" "likely pathogenic" "" "0000354583" "0" "90" "X" "107924999" "107924999" "subst" "0" "00687" "COL4A5_001686" "g.107924999G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108681769G>A" "" "pathogenic" "" "0000354584" "0" "70" "X" "107925014" "107925014" "del" "0" "00687" "COL4A5_001687" "g.107925014del" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "4112delC" "" "Germline" "" "" "0" "" "" "g.108681784del" "" "likely pathogenic" "" "0000354585" "0" "90" "X" "107925016" "107925016" "subst" "0" "00687" "COL4A5_001688" "g.107925016G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108681786G>T" "" "pathogenic" "" "0000354586" "0" "90" "X" "107932678" "107932678" "subst" "0" "00687" "COL4A5_001435" "g.107932678T>G" "" "{PMID:Nozu 2014:25183659}, {DOI:Nozu 2014:10.2215/CJN.04140414}" "" "IVS47+2754T>G" "" "Germline" "" "" "0" "" "" "g.108689448T>G" "" "pathogenic" "" "0000354587" "0" "90" "X" "107929260" "107936156" "del" "0" "00687" "COL4A5_001449" "g.(107925119_107929260)_(107936156_107938036)del" "" "" "" "4217_4706del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000354588" "0" "90" "X" "107929303" "107929303" "del" "0" "00687" "COL4A5_001690" "g.107929303del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108686073del" "" "pathogenic" "" "0000354589" "0" "90" "X" "107935633" "107935633" "subst" "0" "00687" "COL4A5_001437" "g.107935633A>G" "" "{PMID:Nozu 2014:25183659 }, {DOI:Nozu 2014:10.2215/CJN.04140414}" "" "IVS48-345A>G" "" "Germline" "" "" "0" "" "" "g.108692403A>G" "" "pathogenic" "" "0000354590" "0" "70" "X" "107930710" "107930710" "subst" "0" "00687" "COL4A5_001695" "g.107930710A>G" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108687480A>G" "" "likely pathogenic" "" "0000354591" "0" "70" "X" "107930766" "107930766" "subst" "0" "00687" "COL4A5_001699" "g.107930766G>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108687536G>A" "" "likely pathogenic" "" "0000354592" "0" "90" "X" "107930871" "107930871" "subst" "0" "00687" "COL4A5_001286" "g.107930871G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108687641G>A" "" "pathogenic" "" "0000354593" "0" "90" "X" "107935976" "107935976" "subst" "0" "00687" "COL4A5_001703" "g.107935976A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108692746A>G" "" "pathogenic" "" "0000354594" "0" "90" "X" "107935993" "107935993" "subst" "0" "00687" "COL4A5_001704" "g.107935993G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108692763G>T" "" "pathogenic" "" "0000354595" "0" "90" "X" "107938048" "107938048" "subst" "0" "00687" "COL4A5_001709" "g.107938048G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108694818G>C" "" "pathogenic" "" "0000354596" "0" "90" "X" "107938050" "107938050" "subst" "0" "00687" "COL4A5_001710" "g.107938050G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108694820G>T" "" "pathogenic" "" "0000354597" "0" "70" "X" "107938097" "107938097" "dup" "0" "00687" "COL4A5_001712" "g.107938097dup" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108694867dup" "" "likely pathogenic" "" "0000354598" "0" "70" "X" "107938130" "107938130" "subst" "0" "00687" "COL4A5_001714" "g.107938130G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108694900G>A" "" "likely pathogenic" "" "0000354599" "0" "70" "X" "107938135" "107938135" "subst" "0" "00687" "COL4A5_001715" "g.107938135G>T" "" "{PMID:Fu 2016:26014433}, {DOI:Fu 2016:10.1038/ejhg.2015.113}" "" "" "" "Germline" "" "" "0" "" "" "g.108694905G>T" "" "likely pathogenic" "" "0000354600" "0" "70" "X" "107938135" "107938135" "subst" "0" "00687" "COL4A5_001715" "g.107938135G>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108694905G>T" "" "likely pathogenic" "" "0000354601" "0" "70" "X" "107938141" "107938141" "subst" "0" "00687" "COL4A5_001313" "g.107938141C>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108694911C>T" "" "likely pathogenic" "" "0000354602" "0" "70" "X" "107938141" "107938141" "subst" "0" "00687" "COL4A5_001313" "g.107938141C>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108694911C>T" "" "likely pathogenic" "" "0000354603" "0" "90" "X" "107938152" "107938152" "subst" "0" "00687" "COL4A5_000279" "g.107938152G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108694922G>A" "" "pathogenic" "" "0000354604" "0" "90" "X" "107938508" "107938508" "del" "0" "00687" "COL4A5_001717" "g.107938508del" "" "" "" "4833delA" "" "Germline" "" "" "0" "" "" "g.108695278del" "" "pathogenic" "" "0000354605" "0" "90" "X" "107938570" "107938570" "subst" "0" "00687" "COL4A5_001718" "g.107938570C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108695340C>G" "" "pathogenic" "" "0000354606" "0" "70" "X" "107938588" "107938588" "subst" "0" "00687" "COL4A5_001322" "g.107938588G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108695358G>A" "" "likely pathogenic" "" "0000354607" "0" "70" "X" "107938589" "107938589" "subst" "0" "00687" "COL4A5_001719" "g.107938589T>G" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.108695359T>G" "" "likely pathogenic" "" "0000354608" "0" "70" "X" "107938606" "107938606" "subst" "0" "00687" "COL4A5_001720" "g.107938606G>C" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108695376G>C" "" "likely pathogenic" "" "0000354609" "0" "70" "X" "107938624" "107938624" "subst" "0" "00687" "COL4A5_001721" "g.107938624C>G" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108695394C>G" "" "likely pathogenic" "" "0000354610" "0" "90" "X" "107938645" "107938649" "del" "0" "00687" "COL4A5_001722" "g.107938645_107938649del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108695415_108695419del" "" "pathogenic" "" "0000354611" "0" "70" "X" "107939583" "107939583" "subst" "0" "00687" "COL4A5_001337" "g.107939583G>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.108696353G>A" "" "likely pathogenic" "" "0000354612" "0" "70" "X" "107939591" "107939591" "subst" "0" "00687" "COL4A5_001724" "g.107939591T>G" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108696361T>G" "" "likely pathogenic" "" "0000354613" "0" "90" "X" "107938639" "107938639" "subst" "0" "00687" "COL4A5_000210" "g.107938639T>G" "" "Barker, 1996, Barker, 2001" "" "" "" "Germline" "" "" "0" "" "" "g.108695409T>G" "" "pathogenic" "" "0000354614" "0" "90" "X" "107850031" "107850031" "del" "0" "00687" "COL4A5_001592" "g.107850031del" "" "Barker, 1996, Barker, 2001" "" "2304delA" "" "Germline" "" "" "0" "" "" "g.108606801del" "" "pathogenic" "" "0000354615" "0" "70" "X" "107844668" "107844668" "del" "0" "00687" "COL4A5_001570" "g.107844668del" "" "" "" "1994delC" "" "Germline" "" "" "0" "" "" "g.108601438del" "" "likely pathogenic" "" "0000354616" "0" "70" "X" "107821594" "107821595" "del" "0" "00687" "COL4A5_000301" "g.107821594_107821595del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108578364_108578365del" "" "likely pathogenic" "" "0000354617" "0" "70" "X" "107826113" "107826113" "subst" "0" "00687" "COL4A5_000590" "g.107826113G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108582883G>A" "" "likely pathogenic" "" "0000354618" "0" "90" "X" "107936027" "107936029" "delins" "0" "00687" "COL4A5_001705" "g.107936027_107936029delinsTT" "" "Knebelmann, 1996" "" "" "" "Germline" "" "" "0" "" "" "g.108692797_108692799delinsTT" "" "pathogenic" "" "0000354619" "0" "90" "X" "107850032" "107850032" "subst" "0" "00687" "COL4A5_001593" "g.107850032G>A" "" "Barker, 1996, Barker, 2001" "" "" "" "Germline" "" "" "0" "" "" "g.108606802G>A" "" "pathogenic" "" "0000354620" "0" "70" "X" "107829979" "107829979" "subst" "0" "00687" "COL4A5_000246" "g.107829979T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108586749T>G" "" "likely pathogenic" "" "0000354621" "0" "90" "X" "107911698" "107911698" "subst" "0" "00687" "COL4A5_000173" "g.107911698G>A" "" "Tan, 2010" "" "" "" "Germline" "" "" "0" "" "" "g.108668468G>A" "" "pathogenic" "" "0000354622" "0" "90" "X" "107898633" "107898633" "subst" "0" "00687" "COL4A5_000153" "g.107898633G>A" "" "Martin, 1998, Hertz, 2001" "" "" "" "Germline" "" "" "0" "" "" "g.108655403G>A" "" "pathogenic" "" "0000354623" "0" "70" "X" "107834339" "107834339" "subst" "0" "00687" "COL4A5_000048" "g.107834339G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108591109G>T" "" "likely pathogenic" "" "0000354624" "0" "90" "X" "107821191" "107821191" "subst" "0" "00687" "COL4A5_001489" "g.107821191G>C" "" "Renieri, 1996" "" "" "" "Germline" "" "" "0" "" "" "g.108577961G>C" "" "pathogenic" "" "0000354625" "0" "70" "X" "107823961" "107823961" "subst" "0" "00687" "COL4A5_000033" "g.107823961G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108580731G>A" "" "likely pathogenic" "" "0000354626" "0" "70" "X" "107938639" "107938639" "subst" "0" "00687" "COL4A5_000210" "g.107938639T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108695409T>G" "" "likely pathogenic" "" "0000354627" "0" "50" "X" "107844632" "107844632" "subst" "0" "00687" "COL4A5_001569" "g.107844632G>A" "" "Adzhubei, 2010" "" "" "" "Germline" "" "" "0" "" "" "g.108601402G>A" "" "VUS" "" "0000354628" "0" "70" "X" "107929306" "107929306" "subst" "0" "00687" "COL4A5_001691" "g.107929306G>A" "" "Martin, 2000" "" "" "" "Germline" "" "" "0" "" "" "g.108686076G>A" "" "likely pathogenic" "" "0000354629" "0" "70" "X" "107834847" "107834848" "dup" "0" "00687" "COL4A5_001534" "g.107834847_107834848dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108591617_108591618dup" "" "likely pathogenic" "" "0000354630" "0" "70" "X" "107840737" "107840737" "subst" "0" "00687" "COL4A5_001552" "g.107840737G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597507G>T" "" "likely pathogenic" "" "0000354631" "0" "50" "X" "107938639" "107938639" "subst" "0" "00687" "COL4A5_000210" "g.107938639T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108695409T>G" "" "VUS" "" "0000354632" "0" "70" "X" "107909771" "107909771" "subst" "0" "00687" "COL4A5_001650" "g.107909771G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108666541G>A" "" "likely pathogenic" "" "0000354633" "0" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "Heiskari, 1996" "" "" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000354634" "0" "90" "X" "107858218" "107858218" "subst" "0" "00687" "COL4A5_000115" "g.107858218G>T" "" "Barker 1997" "" "" "" "Germline" "" "" "0" "" "" "g.108614988G>T" "" "pathogenic" "" "0000354635" "0" "70" "X" "107938639" "107938639" "subst" "0" "00687" "COL4A5_000210" "g.107938639T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108695409T>G" "" "likely pathogenic" "" "0000354636" "0" "90" "X" "107865033" "107865033" "subst" "0" "00687" "COL4A5_001613" "g.107865033G>A" "" "Renieri, 1996" "" "" "" "Germline" "" "" "0" "" "" "g.108621803G>A" "" "pathogenic" "" "0000354637" "0" "70" "X" "107938083" "107938083" "subst" "0" "00687" "COL4A5_001711" "g.107938083C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108694853C>T" "" "likely pathogenic" "" "0000354638" "0" "50" "X" "107840737" "107840737" "subst" "0" "00687" "COL4A5_000074" "g.107840737G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597507G>A" "" "VUS" "" "0000354639" "0" "90" "X" "107939580" "107939580" "subst" "2.23958E-5" "00687" "COL4A5_000213" "g.107939580G>A" "" "Barker, 1996, Barker, 2001" "" "" "" "Germline" "" "" "0" "" "" "g.108696350G>A" "" "pathogenic" "" "0000354640" "1" "50" "X" "107845178" "107845178" "subst" "0" "00687" "COL4A5_001582" "g.107845178G>T" "" "" "" "" "in gnomAD" "Germline" "" "" "0" "" "" "g.108601948G>T" "" "VUS" "" "0000354641" "0" "70" "X" "107819138" "107819138" "subst" "0" "00687" "COL4A5_001485" "g.107819138A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108575908A>G" "" "likely pathogenic" "" "0000354642" "0" "70" "X" "107938639" "107938639" "subst" "0" "00687" "COL4A5_000210" "g.107938639T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108695409T>G" "" "likely pathogenic" "" "0000354643" "0" "90" "X" "107827723" "107827723" "subst" "0" "00687" "COL4A5_001513" "g.107827723G>A" "" "Martin, 1998, Slajpah, 2007, Pierides, 2013" "" "" "" "Germline" "" "" "0" "" "" "g.108584493G>A" "" "pathogenic" "" "0000354644" "0" "50" "X" "107834427" "107834427" "del" "0" "00687" "COL4A5_001530" "g.107834427del" "" "" "" "1305delG" "in gnomAD" "Germline" "" "" "0" "" "" "g.108591197del" "" "VUS" "" "0000354645" "0" "70" "X" "107834789" "107834789" "subst" "0" "00687" "COL4A5_000247" "g.107834789A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108591559A>G" "" "likely pathogenic" "" "0000354646" "0" "90" "X" "107938139" "107938139" "subst" "0" "00687" "COL4A5_000207" "g.107938139T>A" "" "Plant, 1999" "" "" "" "Germline" "" "" "0" "" "" "g.108694909T>A" "" "pathogenic" "" "0000354647" "0" "70" "X" "107811974" "107811974" "subst" "0" "00687" "COL4A5_001466" "g.107811974T>G" "" "Nagel, 2005, Hertz, 2011" "" "" "" "Germline" "" "" "0" "" "" "g.108568744T>G" "" "likely pathogenic" "" "0000354648" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "Gast et al. 2016, Inoue et al. 1999" "" "" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000354649" "0" "90" "X" "107840226" "107840226" "del" "0" "00687" "COL4A5_001543" "g.107840226del" "" "Bekheirnia, 2010" "" "1517-2delA" "" "Germline" "" "" "0" "" "" "g.108596996del" "" "pathogenic" "" "0000354650" "0" "70" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "likely pathogenic" "" "0000354651" "0" "90" "X" "107898633" "107898633" "subst" "0" "00687" "COL4A5_000153" "g.107898633G>A" "" "Lemmink, 1997" "" "" "" "Germline" "" "" "0" "" "" "g.108655403G>A" "" "pathogenic" "" "0000354652" "0" "70" "X" "107863524" "107863524" "subst" "0" "00687" "COL4A5_001607" "g.107863524G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620294G>A" "" "likely pathogenic" "" "0000354653" "0" "70" "X" "107898643" "107898643" "subst" "0" "00687" "COL4A5_001213" "g.107898643G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108655413G>A" "" "likely pathogenic" "" "0000354654" "0" "90" "X" "107850015" "107850015" "subst" "0" "00687" "COL4A5_000573" "g.107850015G>A" "" "Barker, 1996, Barker, 2001" "" "" "" "Germline" "" "" "0" "" "" "g.108606785G>A" "" "pathogenic" "" "0000354655" "0" "90" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "Cheong, Bekheirnia, 2006" "" "" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "pathogenic" "" "0000354656" "0" "90" "X" "107865126" "107865126" "subst" "0" "00687" "COL4A5_001618" "g.107865126A>G" "" "{PMID:Hashimura 2014:24304881}, Hertz, 2008" "" "" "" "Germline" "" "" "0" "" "" "g.108621896A>G" "" "pathogenic" "" "0000354657" "0" "90" "X" "107840273" "107840273" "subst" "0" "00687" "COL4A5_000427" "g.107840273G>A" "" "Strasser, 2012, Renieri, 1996" "" "" "" "Germline" "" "" "0" "" "" "g.108597043G>A" "" "pathogenic" "" "0000354658" "1" "70" "X" "107858196" "107858200" "del" "0" "00687" "COL4A5_001602" "g.107858196_107858200del" "" "" "" "2451_2455del5" "" "Germline" "" "" "0" "" "" "g.108614966_108614970del" "" "likely pathogenic" "" "0000354659" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "Martin, 2000" "" "" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000354660" "0" "70" "X" "107829844" "107829844" "subst" "0" "00687" "COL4A5_001517" "g.107829844G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108586614G>T" "" "likely pathogenic" "" "0000354661" "0" "90" "X" "107911735" "107911735" "subst" "0" "00687" "COL4A5_001674" "g.107911735G>A" "" "Strasser, 2012, Renieri, 1996" "" "" "" "Germline" "" "" "0" "" "" "g.108668505G>A" "" "pathogenic" "" "0000354662" "0" "90" "X" "107929353" "107929353" "subst" "9.64906E-5" "00687" "COL4A5_001694" "g.107929353C>G" "" "Barker, 2001" "" "" "" "Germline" "" "" "0" "" "" "g.108686123C>G" "" "pathogenic" "" "0000354663" "0" "90" "X" "107930721" "107930721" "subst" "0" "00687" "COL4A5_001696" "g.107930721G>T" "" "Gast et al. 2016, Inoue et al. 1999" "" "" "" "Germline" "" "" "0" "" "" "g.108687491G>T" "" "pathogenic" "" "0000354664" "0" "90" "X" "107834339" "107834339" "subst" "0" "00687" "COL4A5_000048" "g.107834339G>T" "" "Kawai, 1996" "" "" "" "Germline" "" "" "0" "" "" "g.108591109G>T" "" "pathogenic" "" "0000354665" "0" "70" "X" "107802384" "107802384" "subst" "0" "00687" "COL4A5_000227" "g.107802384G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108559154G>A" "" "likely pathogenic" "" "0000354666" "0" "90" "X" "107939544" "107939544" "subst" "0.000168009" "00687" "COL4A5_001446" "g.107939544C>T" "" "Barker, 1996, Barker, 2001" "" "" "" "Germline" "" "" "0" "" "" "g.108696314C>T" "" "pathogenic" "" "0000354667" "0" "70" "X" "107911675" "107911675" "subst" "0" "00687" "COL4A5_000172" "g.107911675G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108668445G>A" "" "likely pathogenic" "" "0000354668" "0" "70" "X" "107834348" "107834348" "subst" "0" "00687" "COL4A5_000050" "g.107834348G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108591118G>A" "" "likely pathogenic" "" "0000354669" "0" "50" "X" "107911675" "107911675" "subst" "0" "00687" "COL4A5_000172" "g.107911675G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108668445G>A" "" "VUS" "" "0000354670" "0" "50" "X" "107858220" "107858228" "del" "0" "00687" "COL4A5_000286" "g.107858220_107858228del" "" "" "" "2475_2483del9" "" "Germline" "" "" "0" "" "" "g.108614990_108614998del" "" "VUS" "" "0000354671" "0" "90" "X" "107938639" "107938639" "subst" "0" "00687" "COL4A5_000210" "g.107938639T>G" "" "Martin, 1998" "" "" "" "Germline" "" "" "0" "" "" "g.108695409T>G" "" "pathogenic" "" "0000354672" "0" "70" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "likely pathogenic" "" "0000354673" "0" "90" "X" "107782996" "107782996" "del" "0" "00687" "COL4A5_001462" "g.107782996del" "" "Barker et al, 2001, reported as 433+1G>A" "" "102delA" "" "Germline" "" "" "0" "" "" "g.108539766del" "" "pathogenic" "" "0000354674" "0" "90" "X" "107842994" "107842994" "subst" "0" "00687" "COL4A5_001438" "g.107842994C>G" "" "Gast, 2015" "" "" "" "Germline" "" "" "0" "" "" "g.108599764C>G" "" "pathogenic" "" "0000354675" "0" "70" "X" "107938639" "107938639" "subst" "0" "00687" "COL4A5_000210" "g.107938639T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108695409T>G" "" "likely pathogenic" "" "0000354676" "0" "90" "X" "107930810" "107930810" "subst" "1.12027E-5" "00687" "COL4A5_001700" "g.107930810C>T" "" "Gast, 2015" "" "" "" "Germline" "" "" "0" "" "" "g.108687580C>T" "" "pathogenic" "" "0000354677" "0" "90" "X" "107842025" "107842035" "del" "0" "00687" "COL4A5_001561" "g.107842025_107842035del" "" "Plant, 1999" "" "" "" "Germline" "" "" "0" "" "" "g.108598795_108598805del" "" "pathogenic" "" "0000354678" "0" "70" "X" "107829906" "107829906" "subst" "0" "00687" "COL4A5_001520" "g.107829906G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108586676G>T" "" "likely pathogenic" "" "0000354679" "0" "70" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "likely pathogenic" "" "0000354680" "0" "70" "X" "107911714" "107911714" "subst" "6.21334E-6" "00687" "COL4A5_001671" "g.107911714A>G" "" "Bekheirnia, 2010, Plant, 1999" "" "" "" "Germline" "" "" "0" "" "" "g.108668484A>G" "" "likely pathogenic" "" "0000354681" "0" "90" "X" "107924187" "107924187" "subst" "0" "00687" "COL4A5_000276" "g.107924187G>A" "" "Martin, 1998" "" "IVS46+1G>A" "" "Germline" "" "" "0" "" "" "g.108680957G>A" "" "pathogenic" "" "0000354682" "0" "90" "X" "107867498" "107867498" "subst" "0" "00687" "COL4A5_001626" "g.107867498C>T" "" "Heiskari, 1996" "" "" "" "Germline" "" "" "0" "" "" "g.108624268C>T" "" "pathogenic" "" "0000354683" "0" "90" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "pathogenic" "" "0000354684" "0" "70" "X" "107909769" "107909769" "del" "0" "00687" "COL4A5_001649" "g.107909769del" "" "" "" "3498delA" "" "Germline" "" "" "0" "" "" "g.108666539del" "" "likely pathogenic" "" "0000354685" "0" "90" "X" "107939583" "107939583" "subst" "0" "00687" "COL4A5_001337" "g.107939583G>A" "" "Barker, 1996, Barker, 2001" "" "" "" "Germline" "" "" "0" "" "" "g.108696353G>A" "" "pathogenic" "" "0000354686" "0" "90" "X" "107834366" "107834366" "subst" "0" "00687" "COL4A5_001527" "g.107834366G>A" "" "Bekheirnia, 2010" "" "" "" "Germline" "" "" "0" "" "" "g.108591136G>A" "" "pathogenic" "" "0000354687" "0" "50" "X" "107846266" "107846266" "subst" "0" "00687" "COL4A5_000104" "g.107846266G>A" "" "Adzhubei, 2010" "" "" "" "Germline" "" "" "0" "" "" "g.108603036G>A" "" "VUS" "" "0000354688" "0" "70" "X" "107929332" "107929332" "subst" "0" "00687" "COL4A5_001692" "g.107929332G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108686102G>A" "" "likely pathogenic" "" "0000354689" "0" "90" "X" "107910414" "107910414" "dup" "0" "00687" "COL4A5_001659" "g.107910414dup" "" "Pont-Kingdon, 2009" "" "3604+1dupG" "" "Germline" "" "" "0" "" "" "g.108667184dup" "" "pathogenic" "" "0000354690" "0" "90" "X" "107845221" "107845221" "del" "0" "00687" "COL4A5_001584" "g.107845221del" "" "Barker, 2001" "" "2146+2delT" "" "Germline" "" "" "0" "" "" "g.108601991del" "" "pathogenic" "" "0000354691" "0" "70" "X" "107846292" "107846292" "subst" "0" "00687" "COL4A5_000253" "g.107846292G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108603062G>A" "" "likely pathogenic" "" "0000354692" "0" "90" "X" "107909770" "107909770" "subst" "0" "00687" "COL4A5_000158" "g.107909770G>A" "" "Martin, 1998, Slajpah, 2007, Pierides, 2013" "" "" "" "Germline" "" "" "0" "" "" "g.108666540G>A" "" "pathogenic" "" "0000354693" "0" "90" "X" "107925100" "107925100" "subst" "0" "00687" "COL4A5_001450" "g.107925100G>T" "" "Martin, 1998, Pont-Kingdon, 2009" "" "" "" "Germline" "" "" "0" "" "" "g.108681870G>T" "" "pathogenic" "" "0000354694" "0" "90" "X" "107936079" "107936079" "subst" "0" "00687" "COL4A5_001706" "g.107936079T>C" "" "Gast, 2015, Inoue, 1999, Hertz, 2009" "" "" "" "Germline" "" "" "0" "" "" "g.108692849T>C" "" "pathogenic" "" "0000354695" "0" "70" "X" "107842100" "107842100" "subst" "0" "00687" "COL4A5_001565" "g.107842100G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108598870G>A" "" "likely pathogenic" "" "0000354696" "0" "70" "X" "107840708" "107840712" "del" "0" "00687" "COL4A5_001551" "g.107840708_107840712del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597478_108597482del" "" "likely pathogenic" "" "0000354697" "0" "90" "X" "107863566" "107863566" "subst" "0" "00687" "COL4A5_001609" "g.107863566G>A" "" "Nagel, 2005" "" "" "" "Germline" "" "" "0" "" "" "g.108620336G>A" "" "pathogenic" "" "0000354698" "0" "70" "X" "107840746" "107840746" "subst" "0" "00687" "COL4A5_001554" "g.107840746G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597516G>A" "" "likely pathogenic" "" "0000354699" "1" "90" "X" "107845113" "107845113" "subst" "0" "00687" "COL4A5_001578" "g.107845113A>C" "" "Barker, 2001" "" "" "" "Germline" "" "" "0" "" "" "g.108601883A>C" "" "pathogenic" "" "0000354700" "0" "90" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "Martin, 1998, Slajpah, 2007, Pierides, 2013" "" "" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "pathogenic" "" "0000354701" "0" "70" "X" "107869006" "107869006" "subst" "0" "00687" "COL4A5_000137" "g.107869006G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108625776G>A" "" "likely pathogenic" "" "0000354702" "0" "90" "X" "107821327" "107821327" "subst" "0" "00687" "COL4A5_000934" "g.107821327T>G" "" "Renieri, 1996, Zholdybayeva, 2014" "" "" "" "Germline" "" "" "0" "" "" "g.108578097T>G" "" "pathogenic" "" "0000354703" "0" "90" "X" "107910394" "107910394" "del" "0" "00687" "COL4A5_001654" "g.107910394del" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "3585delT" "" "Germline" "" "" "0" "" "" "g.108667164del" "" "pathogenic" "" "0000354704" "0" "70" "X" "107683358" "107683358" "subst" "0" "00687" "COL4A5_001456" "g.107683358G>T" "" "" "" "p.Met1?" "" "Germline" "" "" "0" "" "" "g.108440128G>T" "" "likely pathogenic" "" "0000354705" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00687" "COL4A5_000084" "g.107842023G>A" "" "Plant, 1999" "" "" "" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000354706" "0" "90" "X" "107824258" "107824258" "subst" "0" "00687" "COL4A5_001507" "g.107824258G>T" "" "King, 2006, Zhou, 1992" "" "" "" "Germline" "" "" "0" "" "" "g.108581028G>T" "" "pathogenic" "" "0000354707" "0" "70" "X" "107869530" "107869530" "subst" "0" "00687" "COL4A5_000147" "g.107869530G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108626300G>C" "" "likely pathogenic" "" "0000354708" "0" "90" "X" "107863557" "107863557" "subst" "0" "00687" "COL4A5_000741" "g.107863557G>C" "" "Bekheirnia, 2010" "" "" "" "Germline" "" "" "0" "" "" "g.108620327G>C" "" "pathogenic" "" "0000354709" "0" "90" "X" "107850123" "107850123" "subst" "0" "00687" "COL4A5_001359" "g.107850123G>A" "" "Barker, 1996, Barker, 2001" "" "" "" "Germline" "" "" "0" "" "" "g.108606893G>A" "" "pathogenic" "" "0000354710" "0" "90" "X" "107844707" "107844707" "subst" "0" "00687" "COL4A5_001575" "g.107844707G>A" "" "Gast, 2015, Inoue, 1999" "" "" "" "Germline" "" "" "0" "" "" "g.108601477G>A" "" "pathogenic" "" "0000354711" "0" "90" "X" "107815069" "107815069" "subst" "0" "00687" "COL4A5_001478" "g.107815069T>A" "" "Becknell, 2011, Wuttke, 2015" "" "" "" "Germline" "" "" "0" "" "" "g.108571839T>A" "" "pathogenic" "" "0000354712" "0" "90" "X" "107869006" "107869006" "subst" "0" "00687" "COL4A5_000137" "g.107869006G>A" "" "Heiskari, 1996, Kovács , 2016" "" "" "" "Germline" "" "" "0" "" "" "g.108625776G>A" "" "pathogenic" "" "0000354713" "0" "90" "X" "107816803" "107816803" "subst" "0" "00687" "COL4A5_001008" "g.107816803G>A" "" "Barker, Pont-Kingdon" "" "" "" "Germline" "" "" "0" "" "" "g.108573573G>A" "" "pathogenic" "" "0000354714" "0" "70" "X" "107829906" "107829906" "subst" "0" "00687" "COL4A5_000041" "g.107829906G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108586676G>A" "" "likely pathogenic" "" "0000354715" "0" "70" "X" "107908818" "107908818" "subst" "0" "00687" "COL4A5_001644" "g.107908818G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108665588G>A" "" "likely pathogenic" "" "0000354716" "0" "90" "X" "107869503" "107869503" "subst" "0" "00687" "COL4A5_000791" "g.107869503G>A" "" "Renieri, 1996, Boye, 1995" "" "" "" "Germline" "" "" "0" "" "" "g.108626273G>A" "" "pathogenic" "" "0000354717" "0" "70" "X" "107865126" "107865126" "subst" "0" "00687" "COL4A5_001618" "g.107865126A>G" "" "Slajpah, 2007" "" "" "" "Germline" "" "" "0" "" "" "g.108621896A>G" "" "likely pathogenic" "" "0000354718" "0" "70" "X" "107827760" "107827760" "subst" "0" "00687" "COL4A5_001516" "g.107827760G>T" "" "{PMID:Hashimura 2014:24304881}, Nozu, 2014" "" "" "" "Germline" "" "" "0" "" "" "g.108584530G>T" "" "likely pathogenic" "" "0000354719" "0" "70" "X" "107858235" "107858235" "dup" "0" "00687" "COL4A5_001604" "g.107858235dup" "" "Moriniere, 2014, Gross, 2002, Inoue, 1999" "" "2490dupT" "" "Germline" "" "" "0" "" "" "g.108615005dup" "" "likely pathogenic" "" "0000354720" "0" "70" "X" "107938639" "107938639" "subst" "0" "00687" "COL4A5_000210" "g.107938639T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108695409T>G" "" "likely pathogenic" "" "0000354721" "0" "70" "X" "107841951" "107841951" "subst" "0" "00687" "COL4A5_001557" "g.107841951G>A" "" "Netzer, 1993, Martin, 1998" "" "" "" "Germline" "" "" "0" "" "" "g.108598721G>A" "" "likely pathogenic" "" "0000354722" "0" "90" "X" "107909779" "107909779" "subst" "0" "00687" "COL4A5_000159" "g.107909779G>A" "" "Wang, 2012" "" "" "" "Germline" "" "" "0" "" "" "g.108666549G>A" "" "pathogenic" "" "0000354723" "0" "70" "X" "107844715" "107844715" "subst" "0" "00687" "COL4A5_001576" "g.107844715G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108601485G>A" "" "likely pathogenic" "" "0000354724" "1" "70" "X" "107850075" "107850075" "subst" "3.92326E-5" "00687" "COL4A5_001595" "g.107850075C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108606845C>T" "" "likely pathogenic" "" "0000354725" "0" "70" "X" "107929351" "107929352" "delins" "0" "00687" "COL4A5_001693" "g.107929351_107929352delinsAT" "" "" "" "4307_4308delGAinsAT" "" "Germline" "" "" "0" "" "" "g.108686121_108686122delinsAT" "" "likely pathogenic" "" "0000354738" "0" "70" "X" "107815057" "107815057" "subst" "5.62556E-6" "00687" "COL4A5_001476" "g.107815057C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108571827C>G" "" "likely pathogenic" "" "0000354742" "0" "50" "X" "107850035" "107850035" "subst" "0" "00687" "COL4A5_001147" "g.107850035G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108606805G>C" "" "VUS" "" "0000354753" "0" "90" "X" "107821181" "107821181" "subst" "0" "00687" "COL4A5_001488" "g.107821181G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108577951G>C" "" "pathogenic" "" "0000354772" "0" "70" "X" "107936016" "107936016" "subst" "0.00015701" "00687" "COL4A5_000197" "g.107936016C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108692786C>A" "" "likely pathogenic" "" "0000354779" "0" "50" "X" "107930749" "107930749" "subst" "0.000252369" "00687" "COL4A5_001698" "g.107930749A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108687519A>T" "" "VUS" "" "0000354786" "0" "50" "X" "107858271" "107858271" "subst" "5.22133E-5" "00687" "COL4A5_001605" "g.107858271T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108615041T>C" "" "VUS" "" "0000354788" "0" "70" "X" "107867525" "107867525" "subst" "0" "00687" "COL4A5_001628" "g.107867525G>C" "" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000354789" "0" "50" "X" "107930810" "107930810" "subst" "1.12027E-5" "00687" "COL4A5_001700" "g.107930810C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108687580C>T" "" "VUS" "" "0000354791" "0" "50" "X" "107911608" "107911608" "subst" "0" "00687" "COL4A5_001664" "g.107911608A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108668378A>C" "" "VUS" "" "0000354803" "0" "50" "X" "107840689" "107840689" "subst" "0" "00687" "COL4A5_001550" "g.107840689A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597459A>C" "" "VUS" "" "0000354805" "0" "50" "X" "0" "0" "" "0" "00687" "COL4A5_001447" "g.(pter_cen_qter)sup" "" "" "" "trisomy X (COL4A5/COL4A6dup)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000354810" "0" "90" "X" "107823961" "107823961" "subst" "0" "00687" "COL4A5_000033" "g.107823961G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108580731G>A" "" "pathogenic" "" "0000354916" "0" "50" "X" "107939544" "107939544" "subst" "0.000168009" "00687" "COL4A5_001446" "g.107939544C>T" "" "Barker, Pont-Kingdon" "" "4994C>T (Thr1665Met)" "" "Germline" "" "" "0" "" "" "g.108696314C>T" "" "VUS" "" "0000394663" "0" "70" "X" "107865077" "107865077" "subst" "0" "01873" "COL4A5_001176" "g.107865077G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108621847G>T" "" "likely pathogenic" "" "0000454011" "21" "70" "X" "107911603" "107911603" "subst" "0" "02476" "COL4A5_000168" "g.107911603G>A" "" "" "" "g.233450G>A" "{CV:24666}" "Germline" "yes" "rs104886251" "0" "" "" "g.108668373G>A" "" "likely pathogenic" "" "0000464328" "0" "70" "X" "107824222" "107824222" "subst" "0" "01741" "COL4A5_001725" "g.107824222G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108580992G>C" "" "likely pathogenic" "" "0000473758" "0" "75" "X" "107821341" "107821341" "subst" "0" "00687" "COL4A5_001728" "g.107821341G>A" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108578111G>A" "" "likely pathogenic" "" "0000473759" "0" "90" "X" "107824214" "107824214" "subst" "0" "00687" "COL4A5_001726" "g.107824214G>A" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108580984G>A" "" "pathogenic" "" "0000473760" "0" "90" "X" "107841933" "107841933" "subst" "0" "00687" "COL4A5_000090" "g.107841933G>A" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108598703G>A" "" "pathogenic" "" "0000473761" "0" "90" "X" "107824250" "107824250" "subst" "0" "00687" "COL4A5_001731" "g.107824250G>A" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108581020G>A" "" "pathogenic" "" "0000473762" "0" "70" "X" "107840237" "107840237" "subst" "0" "00687" "COL4A5_001545" "g.107840237G>A" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108597007G>A" "" "likely pathogenic" "" "0000473763" "0" "90" "X" "107908773" "107908773" "subst" "0" "00687" "COL4A5_001743" "g.107908773G>A" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108665543G>A" "" "pathogenic" "" "0000473764" "0" "90" "X" "107814671" "107814671" "subst" "0" "00687" "COL4A5_001730" "g.107814671G>A" "" "{PMID:Hashimura 2014:24304881}" "" "414G>A" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108571441G>A" "" "pathogenic" "" "0000473765" "0" "90" "X" "107911675" "107911675" "subst" "0" "00687" "COL4A5_000172" "g.107911675G>A" "" "{PMID:Hashimura 2014:24304881}" "" "3731C>T" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108668445G>A" "" "pathogenic" "" "0000473766" "0" "90" "X" "107826132" "107826132" "subst" "0" "00687" "COL4A5_001732" "g.107826132G>A" "" "{PMID:Hashimura 2014:24304881}" "" "Gly319Ala" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108582902G>A" "" "pathogenic" "" "0000473767" "0" "90" "X" "107834798" "107834806" "del" "0" "00687" "COL4A5_001734" "g.107834798_107834806del" "" "" "" "1347_1355del9" "" "Unknown" "?" "" "0" "" "" "g.108591568_108591576del" "" "pathogenic" "" "0000473768" "0" "90" "X" "107829890" "107829925" "del" "0" "00687" "COL4A5_001733" "g.107829890_107829925del" "" "{PMID:Hashimura 2014:24304881}" "" "1066_1101del36" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108586660_108586695del" "" "pathogenic" "" "0000473769" "0" "90" "X" "107782975" "107815068" "del" "0" "00687" "COL4A5_000382" "g.(107683437_107782975)_(107815068_107816803)del" "" "{PMID:Hashimura 2014:24304881}" "" "ex2-8 del" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic" "" "0000473770" "0" "90" "X" "107816886" "107816886" "dup" "0" "00687" "COL4A5_000225" "g.107816886dup" "" "{PMID:Hashimura 2014:24304881}" "" "546+2_3insT" "exon 9 skipped" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108573656dup" "" "pathogenic" "" "0000473771" "0" "90" "X" "107920728" "107920728" "subst" "0" "00687" "COL4A5_001729" "g.107920728A>T" "" "{PMID:Hashimura 2014:24304881}" "" "" "exon 44 skipped" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108677498A>T" "" "pathogenic" "" "0000473772" "0" "90" "X" "107842064" "107842064" "subst" "0" "00687" "COL4A5_000090" "g.107842064G>A" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108598834G>A" "" "pathogenic" "" "0000473773" "0" "90" "X" "107827723" "107827723" "subst" "0" "00687" "COL4A5_001513" "g.107827723G>A" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108584493G>A" "" "pathogenic" "" "0000473774" "0" "90" "X" "107858186" "107858186" "subst" "0" "00687" "COL4A5_001739" "g.107858186G>C" "" "" "" "2442G>C" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108614956G>C" "" "pathogenic" "" "0000473775" "0" "90" "X" "107865996" "107865996" "subst" "0.0034612" "00687" "COL4A5_000132" "g.107865996G>T" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108622766G>T" "" "pathogenic" "" "0000473776" "0" "90" "X" "107863584" "107863584" "subst" "0" "00687" "COL4A5_000119" "g.107863584G>A" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "" "0000473777" "0" "90" "X" "107850015" "107850015" "subst" "0" "00687" "COL4A5_001737" "g.107850015G>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108606785G>T" "" "pathogenic" "" "0000473778" "0" "90" "X" "107930871" "107930871" "subst" "0" "00687" "COL4A5_001286" "g.107930871G>A" "" "{PMID:Hashimura 2014:24304881}" "" "4457G>A (Gly1486Asp)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108687641G>A" "" "pathogenic" "" "0000473779" "0" "90" "X" "107845124" "107845124" "subst" "0" "00687" "COL4A5_000098" "g.107845124G>T" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108601894G>T" "" "pathogenic" "" "0000473780" "0" "90" "X" "107909762" "107909762" "subst" "0" "00687" "COL4A5_001226" "g.107909762G>A" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108666532G>A" "" "pathogenic" "" "0000473781" "0" "90" "X" "107841933" "107841933" "subst" "0" "00687" "COL4A5_000090" "g.107841933G>A" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108598703G>A" "" "pathogenic" "" "0000473782" "0" "90" "X" "107869539" "107869539" "subst" "0" "00687" "COL4A5_001638" "g.107869539G>A" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108626309G>A" "" "pathogenic" "" "0000473783" "0" "90" "X" "107868971" "107868971" "subst" "0" "00687" "COL4A5_001741" "g.107868971G>A" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108625741G>A" "" "pathogenic" "" "0000473784" "0" "90" "X" "107925097" "107925097" "subst" "0" "00687" "COL4A5_000184" "g.107925097C>T" "" "{PMID:Hashimura 2014:24304881}" "" "4177C>T (Gln1393*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108681867C>T" "" "pathogenic" "" "0000473785" "0" "90" "X" "107936154" "107936154" "subst" "0" "00687" "COL4A5_000201" "g.107936154C>T" "" "{PMID:Hashimura 2014:24304881}" "" "4689C>T (Arg1563*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108692924C>T" "" "pathogenic" "" "0000473786" "0" "90" "X" "107939579" "107939579" "subst" "0" "00687" "COL4A5_000212" "g.107939579C>T" "" "{PMID:Hashimura 2014:24304881}" "" "5029C>T (Arg1675*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108696349C>T" "" "pathogenic" "" "0000473787" "0" "90" "X" "107823948" "107823948" "subst" "0" "00687" "COL4A5_001736" "g.107823948C>T" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108580718C>T" "" "pathogenic" "" "0000473788" "0" "90" "X" "107938638" "107938638" "subst" "0" "00687" "COL4A5_000000" "g.107938638T>A" "" "{PMID:Hashimura 2014:24304881}" "" "4945T>A (Cys1566*)" "Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic" "" "0000473789" "0" "90" "X" "107840671" "107840672" "ins" "0" "00687" "COL4A5_001738" "g.107840671_107840672insTC" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108597441_108597442insTC" "" "pathogenic" "" "0000473790" "0" "90" "X" "107938084" "107938085" "ins" "0" "00687" "COL4A5_001749" "g.107938084_107938085insT" "" "{PMID:Hashimura 2014:24304881}" "" "4736_4737insT" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108694854_108694855insT" "" "pathogenic" "" "0000473791" "0" "90" "X" "107938512" "107938512" "dup" "0" "00687" "COL4A5_001748" "g.107938512dup" "" "{PMID:Hashimura 2014:24304881}" "" "4818_4819insG" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108695282dup" "" "pathogenic" "" "0000473792" "0" "90" "X" "107908813" "107908814" "ins" "0" "00687" "COL4A5_001744" "g.107908813_107908814insAC" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108665583_108665584insAC" "" "pathogenic" "" "0000473793" "0" "90" "X" "107866041" "107866042" "ins" "0" "00687" "COL4A5_001742" "g.107866041_107866042insG" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108622811_108622812insG" "" "pathogenic" "" "0000473794" "0" "90" "X" "107811998" "107811999" "ins" "0" "00687" "COL4A5_001735" "g.107811998_107811999insCA" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108568768_108568769insCA" "" "pathogenic" "" "0000473795" "0" "90" "X" "107834862" "107834866" "dup" "0" "00687" "COL4A5_001727" "g.107834862_107834866dup" "" "{PMID:Hashimura 2014:24304881}" "" "1411_1415dupCAAG" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108591632_108591636dup" "" "pathogenic" "" "0000473796" "0" "90" "X" "107908736" "107939609" "del" "0" "00687" "COL4A5_000673" "g.(107898688_107908736)_(107939609_?)del" "" "{PMID:Hashimura 2014:24304881}" "" "ex38-51 del" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic" "" "0000473797" "0" "90" "X" "107936032" "107936032" "del" "0" "00687" "COL4A5_001745" "g.107936032del" "" "{PMID:Hashimura 2014:24304881}" "" "4565del" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108692802del" "" "pathogenic" "" "0000473798" "0" "90" "X" "107938073" "107938073" "del" "0" "00687" "COL4A5_001746" "g.107938073del" "" "{PMID:Hashimura 2014:24304881}" "" "4725del" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108694843del" "" "pathogenic" "" "0000473799" "0" "90" "X" "107553977" "107683437" "del" "0" "00687" "COL4A5_000374" "g.(107464605_107553977)_(107683437_107782975)del" "" "{PMID:Hashimura 2014:24304881}" "" "ex1 del" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic" "" "0000473800" "0" "90" "X" "107812035" "107812035" "del" "0" "00687" "COL4A5_000634" "g.107812035del" "" "{PMID:Hashimura 2014:24304881}" "" "367del" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108568805del" "" "pathogenic" "" "0000473801" "0" "90" "X" "107863568" "107863568" "del" "0" "00687" "COL4A5_001740" "g.107863568del" "" "{PMID:Hashimura 2014:24304881}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108620338del" "" "pathogenic" "" "0000473802" "0" "90" "X" "107842994" "107842994" "subst" "0" "00687" "COL4A5_001438" "g.107842994C>G" "" "" "" "" "cryptic exon in intron 25" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108599764C>G" "" "pathogenic" "" "0000473803" "0" "90" "X" "107842101" "107842101" "subst" "0" "00687" "COL4A5_000447" "g.107842101G>A" "" "" "" "" "exon 25 skipped" "Unknown" "?" "" "0" "" "" "g.108598871G>A" "" "pathogenic" "" "0000473804" "0" "90" "X" "107932533" "107932533" "del" "0" "00687" "COL4A5_000000" "g.107932533del" "" "{PMID:Hashimura 2014:24304881}" "" "4529-3445" "cryptic exon in intron 47 84bp ins\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic" "" "0000473805" "0" "90" "X" "107938671" "107938671" "subst" "0" "00687" "COL4A5_001747" "g.107938671T>C" "" "{PMID:Hashimura 2014:24304881}" "" "4976+2T>C" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108695441T>C" "" "pathogenic" "" "0000473806" "0" "90" "X" "107820077" "107820077" "subst" "0" "00687" "COL4A5_001436" "g.107820077G>T" "" "{PMID:Hashimura 2014:24304881}" "" "" "cryptic exon in intron 10" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108576847G>T" "" "pathogenic" "" "0000473807" "0" "90" "X" "107845097" "107845097" "subst" "0" "00687" "COL4A5_000600" "g.107845097A>G" "" "{PMID:Hashimura 2014:24304881}" "" "" "exon 27 skipped" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108601867A>G" "" "pathogenic" "" "0000499678" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "03128" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Daga 2020:31754267}, {DOI:Daga 2020:10.1038/s41431-019-0537-8}, {PMID:Daga 2024:36653516}, {DOI:Daga 2024:10.1038/s41431-023-01287-y}" "" "" "" "Germline/De novo (untested)" "-" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "" "0000572924" "0" "50" "X" "107821195" "107821195" "subst" "0" "01943" "COL4A5_001751" "g.107821195C>T" "" "" "" "COL4A5(NM_033380.2):c.623C>T (p.P208L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108577965C>T" "" "VUS" "" "0000572925" "0" "10" "X" "107824230" "107824230" "subst" "0.00385162" "02326" "COL4A5_001752" "g.107824230T>C" "" "" "" "COL4A5(NM_000495.5):c.909T>C (p.D303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108581000T>C" "" "benign" "" "0000572927" "0" "30" "X" "107829907" "107829915" "del" "0" "01804" "COL4A5_000281" "g.107829907_107829915del" "" "" "" "COL4A5(NM_000495.4):c.1083_1091del (p.(Leu363_Gly365del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108586677_108586685del" "" "likely benign" "" "0000572928" "0" "70" "X" "107834398" "107834398" "subst" "0" "02327" "COL4A5_000056" "g.107834398G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108591168G>A" "" "likely pathogenic" "" "0000572929" "0" "50" "X" "107840263" "107840263" "subst" "0" "02327" "COL4A5_001546" "g.107840263G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108597033G>A" "" "VUS" "" "0000572930" "0" "30" "X" "107841962" "107841962" "subst" "7.84252E-5" "01943" "COL4A5_000821" "g.107841962C>A" "" "" "" "COL4A5(NM_033380.2):c.1810C>A (p.P604T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108598732C>A" "" "likely benign" "" "0000572932" "0" "50" "X" "107850004" "107850012" "del" "0" "01943" "COL4A5_001754" "g.107850004_107850012del" "" "" "" "COL4A5(NM_033380.2):c.2277_2285delTGGGCCACC (p.P761_G763del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108606774_108606782del" "" "VUS" "" "0000572933" "0" "30" "X" "107909738" "107909738" "subst" "0" "01943" "COL4A5_001755" "g.107909738A>T" "" "" "" "COL4A5(NM_033380.2):c.3467A>T (p.H1156L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108666508A>T" "" "likely benign" "" "0000572934" "0" "30" "X" "107911715" "107911715" "subst" "6.22336E-6" "01943" "COL4A5_001756" "g.107911715A>T" "" "" "" "COL4A5(NM_033380.2):c.3771A>T (p.Q1257H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108668485A>T" "" "likely benign" "" "0000572935" "0" "70" "X" "107911736" "107911736" "subst" "0" "02327" "COL4A5_001757" "g.107911736T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108668506T>C" "" "likely pathogenic" "" "0000572936" "0" "30" "X" "107917990" "107917990" "subst" "0.000416989" "01804" "COL4A5_001386" "g.107917990C>T" "" "" "" "COL4A5(NM_033380.2):c.3808+7C>T (p.(=)), COL4A5(NM_033380.3):c.3808+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108674760C>T" "" "likely benign" "" "0000572937" "0" "30" "X" "107924171" "107924171" "subst" "0.000123363" "02325" "COL4A5_001683" "g.107924171C>A" "" "" "" "COL4A5(NM_033380.3):c.4072C>A (p.L1358I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108680941C>A" "" "likely benign" "" "0000572938" "0" "50" "X" "107930766" "107930766" "subst" "0" "02327" "COL4A5_001758" "g.107930766G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108687536G>T" "" "VUS" "" "0000572939" "0" "70" "X" "107936080" "107936080" "subst" "0" "02327" "COL4A5_000199" "g.107936080G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108692850G>C" "" "likely pathogenic" "" "0000572940" "0" "30" "X" "107938071" "107938071" "subst" "8.41199E-5" "01943" "COL4A5_001759" "g.107938071G>T" "" "" "" "COL4A5(NM_033380.2):c.4741G>T (p.A1581S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108694841G>T" "" "likely benign" "" "0000572941" "0" "30" "X" "107938573" "107938573" "subst" "0" "01943" "COL4A5_001760" "g.107938573C>T" "" "" "" "COL4A5(NM_033380.2):c.4898C>T (p.A1633V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108695343C>T" "" "likely benign" "" "0000572942" "0" "70" "X" "107938588" "107938588" "subst" "0" "02327" "COL4A5_001322" "g.107938588G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108695358G>A" "" "likely pathogenic" "" "0000572943" "0" "10" "X" "107939657" "107939658" "dup" "0" "02326" "COL4A5_001343" "g.107939657_107939658dup" "" "" "" "COL4A5(NM_000495.5):c.*48_*49dupAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108696427_108696428dup" "" "benign" "" "0000597574" "21" "90" "X" "107938134" "107938134" "subst" "0" "03364" "COL4A5_001761" "g.107938134G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108694904G>T" "" "pathogenic (recessive)" "" "0000618764" "0" "50" "X" "107683340" "107683340" "subst" "0.000336935" "02327" "COL4A6_000125" "g.107683340C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108440110C>T" "" "VUS" "" "0000618765" "0" "30" "X" "107683401" "107683401" "subst" "0" "01943" "COL4A6_000126" "g.107683401G>T" "" "" "" "COL4A5(NM_033380.2):c.46G>T (p.A16S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108440171G>T" "" "likely benign" "" "0000618766" "0" "90" "X" "107783001" "107783008" "del" "0" "02327" "COL4A5_001762" "g.107783001_107783008del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108539771_108539778del" "" "pathogenic" "" "0000618767" "0" "30" "X" "107783041" "107783041" "subst" "5.62591E-6" "01943" "COL4A5_001750" "g.107783041G>A" "" "" "" "COL4A5(NM_033380.2):c.141+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108539811G>A" "" "likely benign" "" "0000618768" "0" "90" "X" "107802328" "107802328" "del" "0" "02327" "COL4A5_000994" "g.107802328del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108559098del" "" "pathogenic" "" "0000618769" "0" "30" "X" "107802372" "107802372" "subst" "5.60903E-6" "02327" "COL4A5_001763" "g.107802372C>T" "" "" "" "COL4A5(NM_033380.2):c.220C>T (p.R74W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108559142C>T" "" "likely benign" "" "0000618770" "0" "30" "X" "107807095" "107807095" "subst" "0.00445395" "02327" "COL4A5_001764" "g.107807095A>C" "" "" "" "COL4A5(NM_000495.5):c.232-17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108563865A>C" "" "likely benign" "" "0000618771" "0" "70" "X" "107807111" "107807111" "subst" "0" "02327" "COL4A5_001765" "g.107807111G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108563881G>A" "" "likely pathogenic" "" "0000618772" "0" "90" "X" "107811875" "107811875" "del" "0" "02327" "COL4A5_000294" "g.107811875del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108568645del" "" "pathogenic" "" "0000618773" "0" "70" "X" "107812034" "107812034" "subst" "0" "02327" "COL4A5_001004" "g.107812034G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108568804G>A" "" "likely pathogenic" "" "0000618774" "0" "70" "X" "107813936" "107813936" "subst" "0" "02327" "COL4A5_001766" "g.107813936G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108570706G>A" "" "likely pathogenic" "" "0000618775" "0" "70" "X" "107813970" "107813970" "subst" "0" "02327" "COL4A5_001767" "g.107813970T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108570740T>G" "" "likely pathogenic" "" "0000618776" "0" "30" "X" "107814607" "107814607" "subst" "0" "02327" "COL4A5_001768" "g.107814607T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108571377T>G" "" "likely benign" "" "0000618777" "0" "90" "X" "107814642" "107814642" "subst" "0" "02327" "COL4A5_000232" "g.107814642G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108571412G>C" "" "pathogenic" "" "0000618778" "0" "90" "X" "107814644" "107814644" "subst" "0" "02327" "COL4A5_000011" "g.107814644G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108571414G>A" "" "pathogenic" "" "0000618779" "0" "10" "X" "107814732" "107814732" "subst" "0.0354399" "02327" "COL4A5_000584" "g.107814732G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108571502G>T" "" "benign" "" "0000618780" "0" "90" "X" "107815057" "107815057" "del" "0" "02327" "COL4A5_001769" "g.107815057del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108571827del" "" "pathogenic" "" "0000618781" "0" "70" "X" "107815059" "107815059" "subst" "0" "02327" "COL4A5_001770" "g.107815059G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108571829G>A" "" "likely pathogenic" "" "0000618782" "0" "70" "X" "107815060" "107815060" "subst" "0" "02327" "COL4A5_000760" "g.107815060G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108571830G>A" "" "likely pathogenic" "" "0000618783" "0" "30" "X" "107815078" "107815078" "subst" "5.61937E-6" "02327" "COL4A5_001771" "g.107815078C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108571848C>T" "" "likely benign" "" "0000618784" "0" "30" "X" "107816767" "107816767" "subst" "2.80271E-5" "02327" "COL4A5_001772" "g.107816767A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108573537A>T" "" "likely benign" "" "0000618785" "0" "70" "X" "107816849" "107816849" "subst" "0" "02327" "COL4A5_001773" "g.107816849G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108573619G>T" "" "likely pathogenic" "" "0000618786" "0" "90" "X" "107819154" "107819154" "del" "0" "02327" "COL4A5_001775" "g.107819154del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108575924del" "" "pathogenic" "" "0000618787" "0" "10" "X" "107819223" "107819223" "subst" "0.299215" "02327" "COL4A5_000417" "g.107819223T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108575993T>C" "" "benign" "" "0000618788" "0" "90" "X" "107821543" "107821543" "del" "0" "02327" "COL4A5_001776" "g.107821543del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108578313del" "" "pathogenic" "" "0000618789" "0" "90" "X" "107823770" "107823770" "del" "0" "02327" "COL4A5_000943" "g.107823770del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108580540del" "" "pathogenic" "" "0000618790" "0" "70" "X" "107823969" "107823969" "subst" "0" "02327" "COL4A5_000242" "g.107823969G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108580739G>A" "" "likely pathogenic" "" "0000618791" "0" "10" "X" "107824005" "107824005" "subst" "0.0437673" "02327" "COL4A5_000886" "g.107824005A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108580775A>G" "" "benign" "" "0000618792" "0" "30" "X" "107824052" "107824053" "ins" "0" "02327" "COL4A5_001777" "g.107824052_107824053insACTT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108580822_108580823insACTT" "" "likely benign" "" "0000618793" "0" "70" "X" "107826168" "107826168" "subst" "0" "02327" "COL4A5_001778" "g.107826168G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108582938G>C" "" "likely pathogenic" "" "0000618794" "0" "70" "X" "107827715" "107827715" "subst" "0" "02327" "COL4A5_001779" "g.107827715G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108584485G>A" "" "likely pathogenic" "" "0000618795" "0" "70" "X" "107827724" "107827724" "subst" "0" "02327" "COL4A5_000567" "g.107827724G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108584494G>T" "" "likely pathogenic" "" "0000618796" "0" "30" "X" "107827764" "107827764" "subst" "0" "02327" "COL4A5_001780" "g.107827764T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108584534T>G" "" "likely benign" "" "0000618797" "0" "30" "X" "107829859" "107829859" "subst" "0" "02327" "COL4A5_001781" "g.107829859T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108586629T>C" "" "likely benign" "" "0000618798" "0" "90" "X" "107829893" "107829893" "del" "0" "02327" "COL4A5_001782" "g.107829893del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108586663del" "" "pathogenic" "" "0000618799" "0" "70" "X" "107829906" "107829906" "subst" "0" "02327" "COL4A5_001783" "g.107829906G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108586676G>C" "" "likely pathogenic" "" "0000618800" "0" "90" "X" "107829929" "107829929" "subst" "0" "02327" "COL4A5_000043" "g.107829929C>T" "" "" "" "COL4A5(NM_000495.5):c.1117C>T (p.R373*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108586699C>T" "" "pathogenic" "" "0000618801" "0" "70" "X" "107829978" "107829978" "subst" "0" "02327" "COL4A5_000245" "g.107829978G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108586748G>A" "" "likely pathogenic" "" "0000618802" "0" "70" "X" "107834390" "107834390" "subst" "0" "02327" "COL4A5_001784" "g.107834390G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108591160G>T" "" "likely pathogenic" "" "0000618804" "0" "10" "X" "107834411" "107834411" "subst" "0.00478917" "02327" "COL4A5_000403" "g.107834411C>A" "" "" "" "COL4A5(NM_000495.4):c.1289C>A (p.(Ala430Asp)), COL4A5(NM_000495.5):c.1289C>A (p.A430D), COL4A5(NM_033380.2):c.1289C>A (p.A430D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108591181C>A" "" "benign" "" "0000618805" "0" "10" "X" "107834453" "107834453" "subst" "0.0434731" "02327" "COL4A5_000404" "g.107834453T>G" "" "" "" "COL4A5(NM_000495.5):c.1331T>G (p.I444S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108591223T>G" "" "benign" "" "0000618806" "0" "90" "X" "107836049" "107836049" "subst" "0" "02327" "COL4A5_001785" "g.107836049G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108592819G>T" "" "pathogenic" "" "0000618807" "0" "90" "X" "107840236" "107840236" "subst" "0" "02327" "COL4A5_001376" "g.107840236G>T" "" "" "" "COL4A5(NM_033380.3):c.1525G>T (p.G509C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108597006G>T" "" "pathogenic" "" "0000618808" "0" "70" "X" "107840303" "107840303" "subst" "0" "02327" "COL4A5_001786" "g.107840303G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108597073G>A" "" "likely pathogenic" "" "0000618809" "0" "30" "X" "107840592" "107840592" "subst" "0" "02327" "COL4A5_001787" "g.107840592C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108597362C>T" "" "likely benign" "" "0000618810" "0" "50" "X" "107840622" "107840622" "subst" "0" "02327" "COL4A5_001788" "g.107840622C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108597392C>T" "" "VUS" "" "0000618811" "0" "90" "X" "107840692" "107840692" "subst" "0" "02327" "COL4A5_000766" "g.107840692G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108597462G>A" "" "pathogenic" "" "0000618812" "0" "90" "X" "107841932" "107841932" "subst" "0" "02327" "COL4A5_000077" "g.107841932G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108598702G>A" "" "pathogenic" "" "0000618813" "0" "90" "X" "107841961" "107841961" "del" "0" "02327" "COL4A5_001789" "g.107841961del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108598731del" "" "pathogenic" "" "0000618814" "0" "90" "X" "107841966" "107841966" "dup" "0" "02327" "COL4A5_001790" "g.107841966dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108598736dup" "" "pathogenic" "" "0000618815" "0" "70" "X" "107842013" "107842013" "subst" "0" "02327" "COL4A5_000083" "g.107842013G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108598783G>T" "" "likely pathogenic" "" "0000618816" "0" "70" "X" "107842023" "107842023" "subst" "8.97012E-5" "02327" "COL4A5_000084" "g.107842023G>A" "" "" "" "COL4A5(NM_000495.5):c.1871G>A (p.G624D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108598793G>A" "" "likely pathogenic" "" "0000618817" "0" "90" "X" "107842038" "107842038" "subst" "0" "02327" "COL4A5_000086" "g.107842038G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108598808G>A" "" "pathogenic" "" "0000618818" "0" "70" "X" "107842055" "107842055" "subst" "0" "02327" "COL4A5_001791" "g.107842055G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108598825G>C" "" "likely pathogenic" "" "0000618819" "0" "90" "X" "107842085" "107842085" "subst" "0" "02327" "COL4A5_001792" "g.107842085C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108598855C>T" "" "pathogenic" "" "0000618820" "0" "70" "X" "107844621" "107844621" "subst" "0" "02327" "COL4A5_001793" "g.107844621A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108601391A>G" "" "likely pathogenic" "" "0000618821" "0" "70" "X" "107844660" "107844677" "dup" "0" "02327" "COL4A5_001795" "g.107844660_107844677dup" "" "" "" "COL4A5(NM_000495.5):c.1986_2003dupGGGGAAGCCTGGCTTGCC (p.K664_G669dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108601430_108601447dup" "" "likely pathogenic" "" "0000618822" "0" "10" "X" "107844666" "107844666" "subst" "0.00798301" "02327" "COL4A5_000002" "g.107844666G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108601436G>T" "" "benign" "" "0000618823" "0" "30" "X" "107844691" "107844691" "subst" "0.000272521" "02327" "COL4A5_001573" "g.107844691A>G" "" "" "" "COL4A5(NM_033380.2):c.2017A>G (p.R673G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108601461A>G" "" "likely benign" "" "0000618824" "0" "70" "X" "107845133" "107845133" "subst" "0" "02327" "COL4A5_000099" "g.107845133G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108601903G>A" "" "likely pathogenic" "" "0000618825" "0" "90" "X" "107845135" "107845135" "subst" "0" "02327" "COL4A5_001796" "g.107845135C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108601905C>T" "" "pathogenic" "" "0000618826" "0" "70" "X" "107845151" "107845151" "subst" "0" "02327" "COL4A5_001797" "g.107845151G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108601921G>A" "" "likely pathogenic" "" "0000618827" "0" "70" "X" "107846192" "107846192" "subst" "0" "02327" "COL4A5_000602" "g.107846192A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108602962A>G" "" "likely pathogenic" "" "0000618828" "0" "50" "X" "107846291" "107846291" "subst" "0" "02327" "COL4A5_001798" "g.107846291G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108603061G>A" "" "VUS" "" "0000618829" "0" "70" "X" "107849931" "107849931" "del" "0" "02327" "COL4A5_001799" "g.107849931del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108606701del" "" "likely pathogenic" "" "0000618830" "0" "70" "X" "107849932" "107849932" "subst" "0" "02327" "COL4A5_001588" "g.107849932A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108606702A>G" "" "likely pathogenic" "" "0000618831" "0" "70" "X" "107850073" "107850076" "dup" "0" "02327" "COL4A5_001800" "g.107850073_107850076dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108606843_108606846dup" "" "likely pathogenic" "" "0000618832" "0" "90" "X" "107850121" "107850121" "subst" "5.60783E-6" "02327" "COL4A5_000717" "g.107850121A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108606891A>G" "" "pathogenic" "" "0000618833" "0" "70" "X" "107850125" "107850125" "subst" "0" "02327" "COL4A5_001801" "g.107850125A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108606895A>G" "" "likely pathogenic" "" "0000618834" "0" "90" "X" "107863492" "107863492" "dup" "0" "02327" "COL4A5_001802" "g.107863492dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108620262dup" "" "pathogenic" "" "0000618835" "0" "70" "X" "107863516" "107863516" "subst" "0" "02327" "COL4A5_001161" "g.107863516G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108620286G>A" "" "likely pathogenic" "" "0000618836" "0" "70" "X" "107863558" "107863558" "subst" "0" "02327" "COL4A5_001803" "g.107863558G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108620328G>C" "" "likely pathogenic" "" "0000618837" "0" "70" "X" "107863648" "107863648" "subst" "0" "02327" "COL4A5_001804" "g.107863648G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108620418G>T" "" "likely pathogenic" "" "0000618838" "0" "10" "X" "107865895" "107865895" "subst" "0.16126" "02327" "COL4A5_000420" "g.107865895A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108622665A>G" "" "benign" "" "0000618839" "0" "70" "X" "107865968" "107865968" "subst" "0" "02327" "COL4A5_001805" "g.107865968G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108622738G>A" "" "likely pathogenic" "" "0000618840" "0" "10" "X" "107865996" "107865996" "subst" "0.0034612" "02327" "COL4A5_000132" "g.107865996G>T" "" "" "" "COL4A5(NM_000495.4):c.2858G>T (p.(Gly953Val)), COL4A5(NM_000495.5):c.2858G>T (p.G953V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108622766G>T" "" "benign" "" "0000618841" "0" "90" "X" "107868950" "107868950" "del" "0" "02327" "COL4A5_001806" "g.107868950del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108625720del" "" "pathogenic" "" "0000618842" "0" "70" "X" "107868988" "107868988" "subst" "0" "02327" "COL4A5_001807" "g.107868988G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108625758G>C" "" "likely pathogenic" "" "0000618843" "0" "70" "X" "107869006" "107869006" "subst" "0" "02327" "COL4A5_000137" "g.107869006G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108625776G>A" "" "likely pathogenic" "" "0000618844" "0" "30" "X" "107869429" "107869429" "subst" "0.000370859" "02327" "COL4A5_001808" "g.107869429A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108626199A>T" "" "likely benign" "" "0000618845" "0" "70" "X" "107898633" "107898633" "subst" "0" "02327" "COL4A5_000153" "g.107898633G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108655403G>A" "" "likely pathogenic" "" "0000618846" "0" "70" "X" "107908790" "107908790" "subst" "0" "02327" "COL4A5_000154" "g.107908790G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108665560G>A" "" "likely pathogenic" "" "0000618847" "0" "10" "X" "107909784" "107909784" "subst" "0.0508792" "02327" "COL4A5_000411" "g.107909784A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108666554A>G" "" "benign" "" "0000618848" "0" "30" "X" "107909790" "107909790" "subst" "0.00843378" "02327" "COL4A5_000805" "g.107909790T>G" "" "" "" "COL4A5(NM_000495.5):c.3519T>G (p.G1173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108666560T>G" "" "likely benign" "" "0000618849" "0" "70" "X" "107909794" "107909796" "dup" "0" "02327" "COL4A5_001809" "g.107909794_107909796dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108666564_108666566dup" "" "likely pathogenic" "" "0000618850" "0" "90" "X" "107911600" "107911600" "del" "0" "02327" "COL4A5_001811" "g.107911600del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108668370del" "" "pathogenic" "" "0000618851" "0" "70" "X" "107911648" "107911648" "subst" "0" "02327" "COL4A5_001666" "g.107911648G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108668418G>A" "" "likely pathogenic" "" "0000618852" "0" "70" "X" "107911735" "107911735" "subst" "0" "02327" "COL4A5_001674" "g.107911735G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108668505G>A" "" "likely pathogenic" "" "0000618853" "0" "30" "X" "107917990" "107917990" "subst" "0.000416989" "02327" "COL4A5_001386" "g.107917990C>T" "" "" "" "COL4A5(NM_033380.2):c.3808+7C>T (p.(=)), COL4A5(NM_033380.3):c.3808+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108674760C>T" "" "likely benign" "" "0000618854" "0" "90" "X" "107920804" "107920804" "subst" "0" "02327" "COL4A5_001812" "g.107920804C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108677574C>T" "" "pathogenic" "" "0000618855" "0" "30" "X" "107920818" "107920818" "subst" "0" "02327" "COL4A5_001813" "g.107920818T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108677588T>C" "" "likely benign" "" "0000618856" "0" "70" "X" "107920865" "107920865" "subst" "0" "02327" "COL4A5_001814" "g.107920865T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108677635T>C" "" "likely pathogenic" "" "0000618857" "0" "30" "X" "107924171" "107924171" "subst" "0.000123363" "02327" "COL4A5_001683" "g.107924171C>A" "" "" "" "COL4A5(NM_033380.3):c.4072C>A (p.L1358I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108680941C>A" "" "likely benign" "" "0000618858" "0" "70" "X" "107924178" "107924178" "subst" "0" "02327" "COL4A5_001685" "g.107924178G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108680948G>A" "" "likely pathogenic" "" "0000618859" "0" "90" "X" "107924186" "107924186" "subst" "0" "02327" "COL4A5_000181" "g.107924186G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108680956G>A" "" "pathogenic" "" "0000618860" "0" "70" "X" "107925082" "107925082" "subst" "1.12523E-5" "02327" "COL4A5_001816" "g.107925082G>T" "" "" "" "COL4A5(NM_000495.5):c.4162G>T (p.G1388C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108681852G>T" "" "likely pathogenic" "" "0000618861" "0" "70" "X" "107929290" "107929290" "subst" "3.37209E-5" "02327" "COL4A5_000185" "g.107929290C>T" "" "" "" "COL4A5(NM_000495.4):c.4228C>T (p.(Arg1410Cys)), COL4A5(NM_033380.3):c.4246C>T (p.R1416C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108686060C>T" "" "likely pathogenic" "" "0000618862" "0" "70" "X" "107929351" "107929351" "subst" "0" "02327" "COL4A5_001817" "g.107929351G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108686121G>A" "" "likely pathogenic" "" "0000618863" "0" "30" "X" "107929353" "107929353" "subst" "9.64906E-5" "02327" "COL4A5_001694" "g.107929353C>G" "" "" "" "COL4A5(NM_033380.2):c.4309C>G (p.Q1437E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108686123C>G" "" "likely benign" "" "0000618864" "0" "90" "X" "107930719" "107930720" "del" "0" "02327" "COL4A5_001818" "g.107930719_107930720del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108687489_108687490del" "" "pathogenic" "" "0000618865" "0" "50" "X" "107930784" "107930784" "subst" "0" "02327" "COL4A5_001819" "g.107930784C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108687554C>T" "" "VUS" "" "0000618866" "0" "70" "X" "107930853" "107930853" "subst" "0" "02327" "COL4A5_001820" "g.107930853C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108687623C>A" "" "likely pathogenic" "" "0000618867" "0" "30" "X" "107930872" "107930872" "subst" "0.000128904" "02327" "COL4A5_001821" "g.107930872C>T" "" "" "" "COL4A5(NM_000495.5):c.4458C>T (p.G1486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108687642C>T" "" "likely benign" "" "0000618868" "0" "30" "X" "107935972" "107935972" "subst" "0.000179983" "02327" "COL4A5_001822" "g.107935972T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108692742T>C" "" "likely benign" "" "0000618869" "0" "90" "X" "107936154" "107936154" "subst" "0" "02327" "COL4A5_000201" "g.107936154C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108692924C>T" "" "pathogenic" "" "0000618870" "0" "90" "X" "107936155" "107936155" "subst" "0" "02327" "COL4A5_000202" "g.107936155G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108692925G>A" "" "pathogenic" "" "0000618871" "0" "90" "X" "107939570" "107939570" "subst" "0" "02327" "COL4A5_000627" "g.107939570C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108696340C>T" "" "pathogenic" "" "0000618872" "0" "70" "X" "107939580" "107939580" "subst" "2.23958E-5" "02327" "COL4A5_000213" "g.107939580G>A" "" "" "" "COL4A5(NM_000495.5):c.5030G>A (p.R1677Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108696350G>A" "" "likely pathogenic" "" "0000624367" "0" "30" "X" "107819133" "107819133" "subst" "0" "01943" "COL4A5_001774" "g.107819133A>G" "" "" "" "COL4A5(NM_033380.2):c.547-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108575903A>G" "" "likely benign" "" "0000624368" "0" "50" "X" "107844646" "107844646" "subst" "1.13042E-5" "01943" "COL4A5_001794" "g.107844646A>C" "" "" "" "COL4A5(NM_033380.2):c.1972A>C (p.T658P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108601416A>C" "" "VUS" "" "0000624369" "0" "50" "X" "107850075" "107850075" "subst" "3.92326E-5" "01943" "COL4A5_001595" "g.107850075C>T" "" "" "" "COL4A5(NM_033380.2):c.2348C>T (p.P783L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108606845C>T" "" "VUS" "" "0000624370" "0" "50" "X" "107910402" "107910402" "subst" "0" "01943" "COL4A5_001810" "g.107910402C>T" "" "" "" "COL4A5(NM_033380.2):c.3593C>T (p.P1198L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108667172C>T" "" "VUS" "" "0000624371" "0" "30" "X" "107925051" "107925051" "subst" "0" "01943" "COL4A5_001815" "g.107925051T>C" "" "" "" "COL4A5(NM_033380.2):c.4149T>C (p.P1383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108681821T>C" "" "likely benign" "" "0000652785" "1" "10" "X" "107834453" "107834453" "subst" "0.0434731" "03575" "COL4A5_000404" "g.107834453T>G" "96/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "96 heterozygous; {DB:CLININexm1652619}" "Germline" "" "" "0" "" "" "g.108591223T>G" "" "benign" "" "0000659036" "0" "50" "X" "107802313" "107802313" "subst" "0" "02327" "COL4A5_000009" "g.107802313G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108559083G>A" "" "VUS" "" "0000659037" "0" "30" "X" "107929353" "107929353" "subst" "9.64906E-5" "01943" "COL4A5_001694" "g.107929353C>G" "" "" "" "COL4A5(NM_033380.2):c.4309C>G (p.Q1437E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108686123C>G" "" "likely benign" "" "0000660426" "0" "90" "X" "107844623" "107844623" "subst" "0" "02367" "COL4A5_001823" "g.107844623G>T" "" "" "" "" "" "Unknown" "?" "" "" "" "" "g.108601393G>T" "no" "pathogenic" "" "0000660427" "20" "90" "X" "107911657" "107911657" "subst" "0" "02367" "COL4A5_001668" "g.107911657G>T" "" "" "" "" "" "Unknown" "?" "" "" "" "" "g.108668427G>T" "" "pathogenic" "" "0000660428" "20" "90" "X" "107938079" "107938080" "del" "0" "02367" "COL4A5_001824" "g.107938079_107938080del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.108694849_108694850del" "" "pathogenic (dominant)" "" "0000670080" "0" "10" "X" "107834453" "107834453" "subst" "0.0434731" "03575" "COL4A5_000404" "g.107834453T>G" "63/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "63 homozygous; {DB:CLININexm1652619}" "Germline" "" "" "0" "" "" "g.108591223T>G" "" "benign" "" "0000670081" "0" "10" "X" "107929337" "107929337" "subst" "0.0355565" "03575" "COL4A5_000414" "g.107929337C>T" "43/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "43 homozygous; {DB:CLININexm1652706}" "Germline" "" "" "0" "" "" "g.108686107C>T" "" "benign" "" "0000682009" "0" "90" "X" "107811987" "107811987" "subst" "0" "02327" "COL4A5_001825" "g.107811987A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682010" "0" "30" "X" "107823938" "107823938" "subst" "6.73189E-5" "01943" "COL4A5_000794" "g.107823938G>A" "" "" "" "COL4A5(NM_033380.2):c.861G>A (p.E287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682011" "0" "30" "X" "107867527" "107867527" "subst" "0.000293016" "01943" "COL4A5_000804" "g.107867527T>G" "" "" "" "COL4A5(NM_000495.5):c.2979T>G (p.P993=), COL4A5(NM_033380.2):c.2979T>G (p.P993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682012" "0" "30" "X" "107923923" "107923923" "subst" "3.36663E-5" "01943" "COL4A5_001254" "g.107923923G>T" "" "" "" "COL4A5(NM_033380.2):c.3957G>T (p.R1319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684827" "0" "30" "X" "107865996" "107865996" "subst" "0.0034612" "00004" "COL4A5_000132" "g.107865996G>T" "frequency 0.061" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.108622766G>T" "" "likely benign" "" "0000693270" "0" "70" "X" "107821210" "107821210" "subst" "0" "02327" "COL4A5_001826" "g.107821210G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000693271" "0" "30" "X" "107917990" "107917990" "subst" "0.000416989" "02326" "COL4A5_001386" "g.107917990C>T" "" "" "" "COL4A5(NM_033380.2):c.3808+7C>T (p.(=)), COL4A5(NM_033380.3):c.3808+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000710717" "21" "90" "X" "107929359" "107929359" "subst" "0" "03107" "COL4A5_001827" "g.107929359G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000728302" "0" "30" "X" "107802372" "107802372" "subst" "5.60903E-6" "01943" "COL4A5_001763" "g.107802372C>T" "" "" "" "COL4A5(NM_033380.2):c.220C>T (p.R74W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728303" "0" "30" "X" "107819173" "107819173" "subst" "0.0015712" "02326" "COL4A5_000786" "g.107819173A>G" "" "" "" "COL4A5(NM_000495.5):c.580A>G (p.I194V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728304" "0" "50" "X" "107819174" "107819174" "subst" "0" "02325" "COL4A5_001828" "g.107819174T>C" "" "" "" "COL4A5(NM_000495.5):c.581T>C (p.I194T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728305" "0" "90" "X" "107829887" "107829887" "subst" "0" "02326" "COL4A5_001829" "g.107829887G>T" "" "" "" "COL4A5(NM_033380.3):c.1075G>T (p.G359*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728306" "0" "50" "X" "107838742" "107838742" "subst" "5.59973E-6" "01943" "COL4A5_001830" "g.107838742A>G" "" "" "" "COL4A5(NM_033380.2):c.1427A>G (p.D476G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728307" "0" "50" "X" "107844660" "107844677" "dup" "0" "02326" "COL4A5_001795" "g.107844660_107844677dup" "" "" "" "COL4A5(NM_000495.5):c.1986_2003dupGGGGAAGCCTGGCTTGCC (p.K664_G669dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728308" "0" "30" "X" "107844691" "107844691" "subst" "0.000272521" "01943" "COL4A5_001573" "g.107844691A>G" "" "" "" "COL4A5(NM_033380.2):c.2017A>G (p.R673G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728309" "0" "30" "X" "107863456" "107863456" "subst" "0.000285654" "02325" "COL4A5_000419" "g.107863456A>G" "" "" "" "COL4A5(NM_000495.5):c.2510-33A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728310" "0" "90" "X" "107863584" "107863584" "subst" "0" "02327" "COL4A5_000119" "g.107863584G>A" "" "" "" "COL4A5(NM_000495.5):c.2605G>A (p.G869R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728311" "0" "90" "X" "107909779" "107909779" "subst" "0" "02326" "COL4A5_000159" "g.107909779G>A" "" "" "" "COL4A5(NM_000495.5):c.3508G>A (p.G1170S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728312" "0" "70" "X" "107911576" "107911576" "subst" "0" "02327" "COL4A5_000166" "g.107911576G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728313" "0" "30" "X" "107911743" "107911743" "subst" "0" "01943" "COL4A5_001831" "g.107911743G>A" "" "" "" "COL4A5(NM_033380.2):c.3790+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728314" "0" "30" "X" "107924171" "107924171" "subst" "0.000123363" "02326" "COL4A5_001683" "g.107924171C>A" "" "" "" "COL4A5(NM_033380.3):c.4072C>A (p.L1358I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728315" "0" "70" "X" "107938637" "107938637" "subst" "0" "02327" "COL4A5_001832" "g.107938637G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000788039" "21" "90" "X" "107908736" "107979573" "del" "0" "04087" "COL4A5_001837" "g.(107898688_107908736)_(107979573_?)del" "" "" "" "deletion ex38-53" "70kb deletion" "Germline" "yes" "" "0" "" "" "g.(108655458_108665506)_(108736343_?)del" "" "pathogenic" "ACMG" "0000788040" "21" "90" "X" "107841951" "107841951" "subst" "0" "04087" "COL4A5_001836" "g.107841951G>T" "" "" "" "" "" "Germline" "no" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000788041" "0" "90" "X" "107819203" "107819203" "subst" "0" "04087" "COL4A5_001835" "g.107819203G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000788042" "11" "90" "X" "107683074" "107683437" "del" "0" "04087" "COL4A5_001834" "g.(?_107683074)_(107683437_107782975)del" "" "" "" "deletion ex1" "" "Germline" "yes" "" "0" "" "" "g.(?_108439844)_108440207_108539745)del" "" "pathogenic" "ACMG" "0000789644" "21" "90" "X" "107868934" "107938152" "del" "0" "04087" "COL4A5_001833" "g.(107867565_107868934)_(107938152_107938496)del" "" "" "" "deletion ex35-51" "70kb deletion" "Germline" "yes" "" "0" "" "" "g.(108624335_108625704)_(108694922_108695266)del" "" "pathogenic" "ACMG" "0000790072" "0" "90" "X" "107867522" "107867522" "subst" "0" "04087" "COL4A5_001838" "g.107867522C>T" "" "" "" "" "" "De novo" "no" "" "" "" "" "" "" "pathogenic" "ACMG" "0000794901" "0" "90" "X" "107834332" "107834332" "subst" "0" "04152" "COL4A5_001839" "g.107834332G>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.108591102G>T" "" "pathogenic" "" "0000795122" "0" "90" "X" "107841951" "107841951" "del" "0" "04152" "COL4A5_001842" "g.107841951del" "" "" "" "1799delG" "" "Germline" "?" "" "0" "" "" "g.108598721del" "" "pathogenic" "" "0000795123" "0" "70" "X" "107865050" "107865050" "subst" "0" "04152" "COL4A5_001841" "g.107865050G>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.108621820G>T" "" "likely pathogenic" "" "0000795124" "0" "90" "X" "107938064" "107938067" "del" "0" "04152" "COL4A5_001840" "g.107938064_107938067del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.108694834_108694837del" "" "pathogenic" "ACMG" "0000809768" "0" "30" "X" "107681211" "107681211" "subst" "0" "01943" "COL4A6_000136" "g.107681211G>C" "" "" "" "COL4A6(NM_001287758.1):c.24C>G (p.L8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809769" "0" "30" "X" "107814664" "107814664" "subst" "0.000514968" "01943" "COL4A5_001847" "g.107814664A>G" "" "" "" "COL4A5(NM_000495.5):c.406A>G (p.S136G), COL4A5(NM_033380.2):c.406A>G (p.S136G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809770" "0" "30" "X" "107814664" "107814664" "subst" "0.000514968" "02326" "COL4A5_001847" "g.107814664A>G" "" "" "" "COL4A5(NM_000495.5):c.406A>G (p.S136G), COL4A5(NM_033380.2):c.406A>G (p.S136G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809771" "0" "90" "X" "107834408" "107834408" "subst" "0" "02326" "COL4A5_000057" "g.107834408G>A" "" "" "" "COL4A5(NM_000495.5):c.1286G>A (p.G429E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809772" "0" "90" "X" "107840691" "107840691" "subst" "0" "02327" "COL4A5_000070" "g.107840691G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809773" "0" "30" "X" "107911680" "107911680" "subst" "2.86891E-5" "01943" "COL4A5_001848" "g.107911680G>T" "" "" "" "COL4A5(NM_033380.2):c.3736G>T (p.A1246S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809774" "0" "30" "X" "107920844" "107920844" "subst" "3.36725E-5" "01943" "COL4A5_000806" "g.107920844A>G" "" "" "" "COL4A5(NM_033380.2):c.3923A>G (p.Q1308R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809775" "0" "50" "X" "107930810" "107930810" "subst" "1.12027E-5" "02327" "COL4A5_001700" "g.107930810C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000820215" "1" "70" "X" "107850042" "107850042" "subst" "0" "00000" "COL4A5_001849" "g.107850042G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "COL4A5, variant 1: c.2315G>T/p.G772V" "different transcript, NM_000495.4, possibly solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.108606812G>T" "" "likely pathogenic" "" "0000827859" "0" "50" "X" "107816858" "107816858" "subst" "0" "00000" "COL4A5_000014" "g.107816858G>C" "" "{PMID:Zacchia 2021:33964006}" "" "COL4A5 c.520G>C, p.G174R" "hemizygous; solved" "Unknown" "?" "" "0" "" "" "g.108573628G>C" "" "VUS" "ACMG" "0000827860" "0" "90" "X" "107816858" "107816858" "subst" "0" "00000" "COL4A5_000014" "g.107816858G>C" "" "{PMID:Zacchia 2021:33964006}" "" "COL4A5 c.520G>C, p.G174R" "heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.108573628G>C" "" "pathogenic" "ACMG" "0000827862" "0" "90" "X" "107816858" "107816858" "subst" "0" "00000" "COL4A5_000014" "g.107816858G>C" "" "{PMID:Zacchia 2021:33964006}" "" "COL4A5 c.520G>C, p.G174R" "heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.108573628G>C" "" "pathogenic" "ACMG" "0000827863" "0" "90" "X" "107816858" "107816858" "subst" "0" "00000" "COL4A5_000014" "g.107816858G>C" "" "{PMID:Zacchia 2021:33964006}" "" "COL4A5 c.520G>C, p.G174R" "heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.108573628G>C" "" "pathogenic" "ACMG" "0000827864" "0" "90" "X" "107868950" "107868950" "del" "0" "00000" "COL4A5_001806" "g.107868950del" "" "{PMID:Zacchia 2021:33964006}" "" "COL4A5 c.3032deIC, p.P1011Lfs*10" "heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.108625720del" "" "pathogenic" "ACMG" "0000827865" "0" "90" "X" "107868950" "107868950" "del" "0" "00000" "COL4A5_001806" "g.107868950del" "" "{PMID:Zacchia 2021:33964006}" "" "COL4A5 c.3032deIC, p.P1011Lfs*10" "heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.108625720del" "" "pathogenic" "ACMG" "0000836729" "1" "90" "X" "107864302" "107864302" "subst" "0" "00006" "COL4A5_001850" "g.107864302C>T" "" "{PMID:Wang 2021:34508137}" "" "" "ACMG PM2 PP1 PP4; link between variant and effect on RNA unclear" "Germline" "yes" "" "0" "" "" "g.108621072C>T" "" "VUS (!)" "ACMG" "0000836730" "1" "10" "X" "107864143" "107864143" "subst" "0" "00006" "COL4A5_001851" "g.107864143C>A" "" "{PMID:Wang 2021:34508137}" "" "" "" "Germline" "" "" "0" "" "" "g.108620913C>A" "" "benign" "" "0000836731" "21" "90" "X" "107820081" "107820081" "subst" "0" "00006" "COL4A5_001852" "g.107820081A>G" "" "{PMID:Wang 2021:34508137}," "" "" "ACMG PVS1 PM2 PP4; variants creates intronic splice donor site" "Germline" "" "" "0" "" "" "g.108576851A>G" "" "pathogenic (!)" "ACMG" "0000836732" "0" "90" "X" "107851397" "107851397" "" "0" "00006" "COL4A5_001853" "g.[107851397C>G;107851414G>T]" "" "{PMID:Wang 2021:34508137}" "" "" "ACMG PVS1 PM2 PP4; both variants de novo; it is unclear which variants affects splicing; variant c.2395+1275C>G probably affects splicing (branch point or ISE/ISS)" "De novo" "" "" "0" "" "" "g.[108608167C>G;108608184G>T]" "" "pathogenic (!)" "ACMG" "0000836733" "20" "90" "X" "107811300" "107811300" "subst" "0" "00006" "COL4A5_001854" "g.107811300A>G" "" "{PMID:Wang 2021:34508137}" "" "" "ACMG PVS1 PM2 PP4; variant probably affects ESE/ESS" "Germline" "" "" "0" "" "" "g.108568070A>G" "" "pathogenic (dominant)" "ACMG" "0000856264" "0" "10" "X" "107683367" "107683367" "subst" "0" "02327" "COL4A6_000139" "g.107683367T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856265" "0" "10" "X" "107829907" "107829907" "subst" "0.0442794" "02327" "COL4A5_000402" "g.107829907G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856266" "0" "90" "X" "107829929" "107829929" "subst" "0" "02326" "COL4A5_000043" "g.107829929C>T" "" "" "" "COL4A5(NM_000495.5):c.1117C>T (p.R373*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856267" "0" "30" "X" "107834403" "107834403" "subst" "0" "01943" "COL4A5_001857" "g.107834403G>A" "" "" "" "COL4A5(NM_033380.2):c.1281G>A (p.Q427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856268" "0" "30" "X" "107840771" "107840771" "subst" "0" "02327" "COL4A5_001859" "g.107840771A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856269" "0" "10" "X" "107845128" "107845128" "subst" "0.0431482" "02327" "COL4A5_000408" "g.107845128T>C" "" "" "" "COL4A5(NM_000495.5):c.2055T>C (p.L685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856270" "0" "10" "X" "107850076" "107850076" "subst" "0.0438653" "02327" "COL4A5_000409" "g.107850076G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856271" "0" "90" "X" "107858209" "107858209" "subst" "0" "02326" "COL4A5_000114" "g.107858209G>A" "" "" "" "COL4A5(NM_000495.5):c.2464G>A (p.G822R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856272" "0" "10" "X" "107909866" "107909866" "subst" "0.0496429" "02327" "COL4A5_000904" "g.107909866T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856273" "0" "50" "X" "107925115" "107925115" "subst" "1.69587E-5" "01943" "COL4A5_001862" "g.107925115C>G" "" "" "" "COL4A5(NM_033380.2):c.4213C>G (p.P1405A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856274" "0" "10" "X" "107929337" "107929337" "subst" "0.0355565" "02327" "COL4A5_000414" "g.107929337C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856275" "0" "90" "X" "107936156" "107936156" "subst" "0" "02326" "COL4A5_001306" "g.107936156G>A" "" "" "" "COL4A5(NM_000495.5):c.4688+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866967" "0" "90" "X" "107821605" "107821605" "subst" "0" "02327" "COL4A5_001855" "g.107821605G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866968" "0" "30" "X" "107834394" "107834394" "subst" "0" "01943" "COL4A5_001856" "g.107834394T>G" "" "" "" "COL4A5(NM_033380.2):c.1272T>G (p.L424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866969" "0" "30" "X" "107834858" "107834858" "subst" "5.59948E-6" "01943" "COL4A5_001858" "g.107834858A>G" "" "" "" "COL4A5(NM_033380.2):c.1407A>G (p.G469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866970" "0" "90" "X" "107842006" "107842006" "dup" "0" "02326" "COL4A5_001860" "g.107842006dup" "" "" "" "COL4A5(NM_000495.5):c.1854dupG (p.P619Afs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866971" "0" "90" "X" "107858219" "107858219" "subst" "0" "02326" "COL4A5_001861" "g.107858219G>A" "" "" "" "COL4A5(NM_000495.5):c.2474G>A (p.G825E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866972" "0" "50" "X" "107938584" "107938584" "subst" "0" "02326" "COL4A5_001863" "g.107938584G>A" "" "" "" "COL4A5(NM_000495.5):c.4891G>A (p.E1631K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866973" "0" "30" "X" "107939542" "107939542" "subst" "0" "01943" "COL4A5_001864" "g.107939542A>G" "" "" "" "COL4A5(NM_033380.2):c.5010A>G (p.E1670=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872575" "0" "90" "X" "107836049" "107836049" "subst" "0" "00006" "COL4A5_001785" "g.107836049G>T" "" "{PMID:Bryen 2022:35847480}" "" "" "computational prediction effect on splicing" "In silico" "" "" "0" "" "" "g.108592819G>T" "" "NA" "" "0000873504" "0" "70" "X" "107920738" "107920738" "subst" "0" "00000" "COL4A5_001868" "g.107920738G>T" "145" "{PMID:Sun 2018:30076350}" "" "COL4A5(NM_033380.2):c.3817G>T(p.G1273C)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108677508G>T" "" "likely pathogenic" "" "0000873505" "0" "70" "X" "107824222" "107824222" "subst" "0" "00000" "COL4A5_001725" "g.107824222G>C" "146" "{PMID:Sun 2018:30076350}" "" "COL4A5(NM_033380.2):c.901G>C(p.G301R)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108580992G>C" "" "likely pathogenic" "" "0000873519" "0" "70" "X" "107807108" "107807126" "del" "0" "00000" "COL4A5_001865" "g.107807108_107807126del" "158" "{PMID:Sun 2018:30076350}" "" "COL4A5(NM_033380.2):c.232-6_244delTTTCAGGGTGATGATGGAA" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108563878_108563896del" "" "likely pathogenic" "" "0000873562" "0" "70" "X" "107846262" "107846262" "subst" "0.00111952" "00000" "COL4A5_000102" "g.107846262C>G" "188" "{PMID:Sun 2018:30076350}" "" "COL4A5(NM_033380.2):c.2215C>G(p.P739A)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108603032C>G" "" "likely pathogenic" "" "0000873605" "0" "70" "X" "107807142" "107807142" "subst" "7.31549E-5" "00000" "COL4A5_000928" "g.107807142C>T" "215" "{PMID:Sun 2018:30076350}" "" "COL4A5(NM_033380.2):c.262C>T(p.P88S)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108563912C>T" "" "likely pathogenic" "" "0000873620" "0" "70" "X" "107939570" "107939570" "subst" "0" "00000" "COL4A5_000627" "g.107939570C>T" "226" "{PMID:Sun 2018:30076350}" "" "COL4A5(NM_033380.2):c.5038C>T(p.R1680*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108696340C>T" "" "likely pathogenic" "" "0000873631" "0" "70" "X" "107815072" "107815072" "subst" "0" "00000" "COL4A5_001866" "g.107815072G>T" "234" "{PMID:Sun 2018:30076350}" "" "COL4A5(NM_033380.2):c.465+5G>T" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108571842G>T" "" "likely pathogenic" "" "0000873648" "0" "70" "X" "107869458" "107869458" "subst" "0" "00000" "COL4A5_001867" "g.107869458G>T" "246" "{PMID:Sun 2018:30076350}" "" "COL4A5(NM_033380.2): c.3125G>T(p.G1042V)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.108626228G>T" "" "likely pathogenic" "" "0000881211" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "02300" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PP2, PP3, PP4, PP5" "Germline/De novo (untested)" "" "rs104886142" "0" "" "" "g.108598793G>A" "" "pathogenic (dominant)" "ACMG" "0000881307" "0" "90" "X" "107930773" "107930773" "del" "0" "02300" "COL4A5_001871" "g.107930773del" "" "{PMID:Marinakis 2021:34008892}" "" "c.4359delT" "ACMG PVS1, PM1, PM2, PP2" "Germline/De novo (untested)" "" "" "0" "" "" "g.108687543del" "" "pathogenic (dominant)" "ACMG" "0000881308" "0" "70" "X" "107846275" "107846275" "subst" "0" "02300" "COL4A5_001870" "g.107846275G>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.108603045G>T" "" "likely pathogenic (dominant)" "ACMG" "0000881309" "0" "90" "X" "107823922" "107823922" "dup" "0" "02300" "COL4A5_001869" "g.107823922dup" "" "{PMID:Marinakis 2021:34008892}" "" "c.845dupG" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.108580692dup" "" "pathogenic (dominant)" "ACMG" "0000895853" "0" "30" "X" "107807095" "107807095" "subst" "0.00445395" "02326" "COL4A5_001764" "g.107807095A>C" "" "" "" "COL4A5(NM_000495.5):c.232-17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895854" "0" "70" "X" "107811859" "107811859" "subst" "0" "02327" "COL4A5_001872" "g.107811859G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895855" "0" "70" "X" "107819140" "107819140" "subst" "0" "02327" "COL4A5_001873" "g.107819140G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895857" "0" "30" "X" "107821366" "107821366" "subst" "0" "02326" "COL4A5_001875" "g.107821366A>G" "" "" "" "COL4A5(NM_000495.5):c.687+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895858" "0" "70" "X" "107824250" "107824250" "subst" "0" "02327" "COL4A5_001731" "g.107824250G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895859" "0" "10" "X" "107827772" "107827772" "del" "0" "02326" "COL4A5_001753" "g.107827772del" "" "" "" "COL4A5(NM_000495.5):c.1032+17delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895860" "0" "70" "X" "107834365" "107834365" "subst" "0" "02327" "COL4A5_000052" "g.107834365G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895861" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "02326" "COL4A5_000084" "g.107842023G>A" "" "" "" "COL4A5(NM_000495.5):c.1871G>A (p.G624D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895862" "0" "90" "X" "107844652" "107844679" "dup" "0" "02327" "COL4A5_001876" "g.107844652_107844679dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895863" "0" "50" "X" "107865062" "107865062" "subst" "0" "02327" "COL4A5_001877" "g.107865062C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895864" "0" "30" "X" "107868947" "107868947" "subst" "0.0043065" "02326" "COL4A5_001381" "g.107868947A>G" "" "" "" "COL4A5(NM_000495.4):c.3029A>G (p.(Asn1010Ser)), COL4A5(NM_000495.5):c.3029A>G (p.N1010S), COL4A5(NM_033380.2):c.3029A>G (p.N1010S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895865" "0" "30" "X" "107911591" "107911591" "subst" "0" "02327" "COL4A5_001384" "g.107911591C>T" "" "" "" "COL4A5(NM_033380.2):c.3647C>T (p.P1216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895866" "0" "70" "X" "107925082" "107925082" "subst" "1.12523E-5" "02326" "COL4A5_001816" "g.107925082G>T" "" "" "" "COL4A5(NM_000495.5):c.4162G>T (p.G1388C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895867" "0" "50" "X" "107929326" "107929326" "subst" "0.000371438" "02325" "COL4A5_000187" "g.107929326C>T" "" "" "" "COL4A5(NM_000495.5):c.4264C>T (p.R1422C), COL4A5(NM_033380.2):c.4282C>T (p.R1428C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895868" "0" "90" "X" "107930850" "107930850" "subst" "0" "02326" "COL4A5_001878" "g.107930850G>T" "" "" "" "COL4A5(NM_000495.5):c.4436G>T (p.G1479V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895869" "0" "30" "X" "107930872" "107930872" "subst" "0.000128904" "02326" "COL4A5_001821" "g.107930872C>T" "" "" "" "COL4A5(NM_000495.5):c.4458C>T (p.G1486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895870" "0" "30" "X" "107930896" "107930896" "subst" "0.00228968" "02326" "COL4A5_001879" "g.107930896A>G" "" "" "" "COL4A5(NM_000495.5):c.4482A>G (p.G1494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895871" "0" "50" "X" "107935999" "107935999" "subst" "1.68379E-5" "02326" "COL4A5_000196" "g.107935999G>A" "" "" "" "COL4A5(NM_000495.5):c.4532G>A (p.R1511H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915583" "0" "90" "X" "107826150" "107826150" "subst" "0" "02327" "COL4A5_000037" "g.107826150G>A" "" "" "" "COL4A5(NM_000495.5):c.973G>A (p.G325R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915584" "0" "90" "X" "107861979" "107861979" "subst" "0" "02327" "COL4A5_001880" "g.107861979A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915585" "0" "90" "X" "107863638" "107863638" "subst" "0" "02326" "COL4A5_001881" "g.107863638G>C" "" "" "" "COL4A5(NM_000495.5):c.2659G>C (p.G887R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915586" "0" "50" "X" "107865996" "107865996" "subst" "0.0034612" "02325" "COL4A5_000132" "g.107865996G>T" "" "" "" "COL4A5(NM_000495.4):c.2858G>T (p.(Gly953Val)), COL4A5(NM_000495.5):c.2858G>T (p.G953V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915587" "0" "10" "X" "107865996" "107865996" "subst" "0.0034612" "02326" "COL4A5_000132" "g.107865996G>T" "" "" "" "COL4A5(NM_000495.4):c.2858G>T (p.(Gly953Val)), COL4A5(NM_000495.5):c.2858G>T (p.G953V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915588" "0" "70" "X" "107868970" "107868970" "subst" "0" "02326" "COL4A5_001882" "g.107868970G>A" "" "" "" "COL4A5(NM_000495.5):c.3052G>A (p.G1018S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927242" "0" "90" "X" "107863584" "107863584" "subst" "0" "02326" "COL4A5_000119" "g.107863584G>A" "" "" "" "COL4A5(NM_000495.5):c.2605G>A (p.G869R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927243" "0" "30" "X" "107867527" "107867527" "subst" "0.000293016" "02326" "COL4A5_000804" "g.107867527T>G" "" "" "" "COL4A5(NM_000495.5):c.2979T>G (p.P993=), COL4A5(NM_033380.2):c.2979T>G (p.P993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927245" "0" "30" "X" "107929311" "107929311" "subst" "1.68612E-5" "02326" "COL4A5_001884" "g.107929311G>A" "" "" "" "COL4A5(NM_000495.5):c.4249G>A (p.D1417N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927246" "0" "50" "X" "107938129" "107938129" "subst" "0" "02326" "COL4A5_001885" "g.107938129G>C" "" "" "" "COL4A5(NM_000495.5):c.4781G>C (p.W1594S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951655" "0" "90" "X" "107816849" "107816849" "subst" "0" "02326" "COL4A5_001886" "g.107816849G>C" "" "" "" "COL4A5(NM_000495.5):c.511G>C (p.G171R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951657" "0" "70" "X" "107846266" "107846266" "subst" "0" "02326" "COL4A5_000104" "g.107846266G>A" "" "" "" "COL4A5(NM_000495.5):c.2219G>A (p.G740E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951658" "0" "50" "X" "107850092" "107850092" "subst" "0" "02327" "COL4A5_001887" "g.107850092A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951659" "0" "50" "X" "107938573" "107938573" "subst" "0" "02327" "COL4A5_001760" "g.107938573C>T" "" "" "" "COL4A5(NM_033380.2):c.4898C>T (p.A1633V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951660" "0" "90" "X" "107939580" "107939580" "subst" "2.23958E-5" "02326" "COL4A5_000213" "g.107939580G>A" "" "" "" "COL4A5(NM_000495.5):c.5030G>A (p.R1677Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000954795" "21" "50" "X" "107923969" "107923969" "subst" "4.4878E-5" "00006" "COL4A5_001888" "g.107923969C>T" "" "{PMID:Fan 2020:32883240}" "" "" "variant in son and unaffected mother" "Germline" "" "" "0" "" "" "g.108680739C>T" "" "VUS" "" "0000957485" "0" "50" "X" "107923969" "107923969" "subst" "4.4878E-5" "00006" "COL4A5_001888" "g.107923969C>T" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "" "rs757653472" "0" "" "" "g.108680739C>T" "rs757653472" "VUS" "" "0000957486" "0" "50" "X" "107923969" "107923969" "subst" "4.4878E-5" "00006" "COL4A5_001888" "g.107923969C>T" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "" "rs757653472" "0" "" "" "g.108680739C>T" "rs757653472" "VUS" "" "0000957958" "21" "70" "X" "107846275" "107846275" "subst" "0" "04609" "COL4A5_001889" "g.107846275G>C" "0,001473" "" "" "" "" "Germline" "yes" "" "" "" "" "g.108603045G>C" "" "likely pathogenic" "ACMG" "0000970601" "0" "70" "X" "107802304" "107802304" "subst" "0" "02327" "COL4A5_001465" "g.107802304G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000970602" "0" "30" "X" "107821585" "107821585" "subst" "0" "02326" "COL4A5_001890" "g.107821585T>C" "" "" "" "COL4A5(NM_000495.5):c.752T>C (p.I251T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970603" "0" "90" "X" "107840754" "107840754" "subst" "0" "02326" "COL4A5_000075" "g.107840754G>A" "" "" "" "COL4A5(NM_000495.5):c.1735G>A (p.G579R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984378" "0" "30" "X" "107802373" "107802373" "subst" "2.24466E-5" "01804" "COL4A5_001892" "g.107802373G>A" "" "" "" "COL4A5(NM_033380.3):c.221G>A (p.(Arg74Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984379" "0" "50" "X" "107840667" "107840667" "subst" "0" "02327" "COL4A5_001893" "g.107840667A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984380" "0" "90" "X" "107846252" "107846252" "dup" "0" "02327" "COL4A5_001894" "g.107846252dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984381" "0" "70" "X" "107935978" "107935978" "subst" "0" "02326" "COL4A5_001895" "g.107935978G>C" "" "" "" "COL4A5(NM_000495.5):c.4511G>C (p.G1504A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984382" "0" "50" "X" "107938630" "107938630" "subst" "1.12167E-5" "01804" "COL4A5_001896" "g.107938630G>C" "" "" "" "COL4A5(NM_033380.3):c.4955G>C (p.(Ser1652Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987154" "0" "90" "X" "107842023" "107842023" "subst" "8.97012E-5" "00006" "COL4A5_000084" "g.107842023G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.108598793G>A" "" "pathogenic" "ACMG" "0000987806" "20" "90" "X" "107869006" "107869006" "subst" "0" "04221" "COL4A5_000137" "g.107869006G>A" "" "" "" "" "This variant that is responsible of \'Alport syndrome 1, X-linked (OMIM: 301050)\', was identified in co-occurrence with two likely pathogenic variants in the COL4A5 gene (p.Ile8Phefs*13, p.Asp346_Phe349del), causing \'Cystinosis, nephropathic\'; Kamura 2020:32405592, Warejko 2018:29127259, Liu 2017:28542346" "Germline" "yes" "rs104886210" "0" "" "" "g.108625776G>A" "{CV:24591}" "pathogenic (maternal)" "ACMG" "0001006333" "0" "90" "X" "107815035" "107815035" "subst" "0" "02327" "COL4A5_001897" "g.107815035T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001006334" "0" "70" "X" "107815039" "107815039" "subst" "0" "02327" "COL4A5_001898" "g.107815039A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006335" "0" "30" "X" "107924197" "107924197" "subst" "5.61435E-6" "02327" "COL4A5_001899" "g.107924197T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006336" "0" "30" "X" "107925128" "107925128" "subst" "4.55384E-5" "02327" "COL4A5_001900" "g.107925128C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006337" "0" "50" "X" "107936016" "107936016" "subst" "0.00015701" "01804" "COL4A5_000197" "g.107936016C>A" "" "" "" "COL4A5(NM_000495.3):c.4549C>A (p.P1517T), COL4A5(NM_033380.2):c.4567C>A (p.(Pro1523Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015972" "0" "50" "X" "107683284" "107683284" "subst" "0" "02327" "COL4A6_000149" "g.107683284A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015973" "0" "70" "X" "107802385" "107802385" "subst" "5.61385E-6" "02326" "COL4A5_001901" "g.107802385T>C" "" "" "" "COL4A5(NM_000495.5):c.231+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015974" "0" "30" "X" "107846262" "107846262" "subst" "0.00111952" "02326" "COL4A5_000102" "g.107846262C>G" "" "" "" "COL4A5(NM_000495.5):c.2215C>G (p.P739A), COL4A5(NM_033380.2):c.2215C>G (p.P739A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015975" "0" "50" "X" "107936002" "107936002" "subst" "0" "02325" "COL4A5_001388" "g.107936002G>A" "" "" "" "COL4A5(NM_000495.5):c.4535G>A (p.R1512H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027424" "0" "70" "X" "107683357" "107683357" "subst" "0" "02327" "COL4A5_001454" "g.107683357T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027425" "0" "70" "X" "107834321" "107834321" "subst" "0" "02327" "COL4A5_001071" "g.107834321G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027426" "0" "70" "X" "107840709" "107840709" "subst" "0" "02327" "COL4A5_001902" "g.107840709G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027427" "0" "10" "X" "107858145" "107858145" "subst" "0.000263592" "02326" "COL4A5_001903" "g.107858145T>C" "" "" "" "COL4A5(NM_000495.5):c.2400T>C (p.D800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027428" "0" "70" "X" "107909402" "107909402" "subst" "0" "02327" "COL4A5_001904" "g.107909402A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027429" "0" "50" "X" "107909764" "107909764" "subst" "0" "02327" "COL4A5_001227" "g.107909764G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044030" "0" "70" "X" "107808520" "107808520" "subst" "0" "02327" "COL4A5_001905" "g.107808520A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001044031" "0" "90" "X" "107823951" "107823951" "subst" "0" "02326" "COL4A5_001906" "g.107823951G>A" "" "" "" "COL4A5(NM_000495.5):c.874G>A (p.G292R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001044032" "0" "50" "X" "107908749" "107908749" "subst" "0" "02327" "COL4A5_001907" "g.107908749C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044033" "0" "70" "X" "107908818" "107908818" "subst" "0" "02327" "COL4A5_001644" "g.107908818G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001044886" "1" "90" "X" "107812035" "107812035" "del" "0" "00006" "COL4A5_000634" "g.107812035del" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "367delG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.108568805del" "" "pathogenic (dominant)" "" "0001044887" "1" "90" "X" "107823778" "107823778" "subst" "0" "00006" "COL4A5_000028" "g.107823778C>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.108580548C>T" "" "pathogenic (dominant)" "" "0001045111" "21" "90" "X" "107821856" "107821856" "subst" "0" "04100" "COL4A5_001908" "g.107821856T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108578626T>C" "" "VUS" "ACMG" "0001045112" "11" "90" "X" "107821618" "107821618" "subst" "0" "04100" "COL4A5_001494" "g.107821618G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108578388G>A" "" "VUS" "ACMG" "0001045113" "21" "90" "X" "107863487" "107863487" "subst" "5.66277E-6" "04100" "COL4A5_001606" "g.107863487A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620257A>G" "" "pathogenic" "ACMG" "0001045114" "0" "30" "X" "107910478" "107910478" "subst" "0" "04100" "COL4A5_001909" "g.107910478A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108667248A>G" "" "VUS" "ACMG" "0001045115" "0" "90" "X" "107938670" "107938670" "subst" "0" "04100" "COL4A5_001927" "g.107938670G>A" "" "" "" "NM_033380.2:c.4976+1G>A" "" "Germline" "" "" "0" "" "" "g.108695440G>A" "" "pathogenic" "ACMG" "0001045116" "21" "30" "X" "107802372" "107802372" "subst" "5.60903E-6" "04100" "COL4A5_001763" "g.107802372C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108559142C>T" "" "VUS" "ACMG" "0001045117" "11" "30" "X" "107807142" "107807142" "subst" "7.31549E-5" "04100" "COL4A5_000928" "g.107807142C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108563912C>T" "" "VUS" "ACMG" "0001045118" "0" "90" "X" "107821210" "107821210" "subst" "0" "04100" "COL4A5_000423" "g.107821210G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108577980G>A" "" "pathogenic" "ACMG" "0001045119" "0" "30" "X" "107821213" "107821213" "subst" "0" "04100" "COL4A5_001911" "g.107821213C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108577983C>T" "" "VUS" "ACMG" "0001045120" "0" "90" "X" "107821341" "107821341" "subst" "0" "04100" "COL4A5_001728" "g.107821341G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108578111G>A" "" "pathogenic" "ACMG" "0001045121" "21" "70" "X" "107826150" "107826150" "subst" "0" "04100" "COL4A5_000037" "g.107826150G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "likely pathogenic" "ACMG" "0001045122" "21" "70" "X" "107826150" "107826150" "subst" "0" "04100" "COL4A5_000037" "g.107826150G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108582920G>A" "" "likely pathogenic" "ACMG" "0001045123" "0" "70" "X" "107834398" "107834398" "subst" "0" "04100" "COL4A5_000056" "g.107834398G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108591168G>A" "" "likely pathogenic" "ACMG" "0001045124" "21" "70" "X" "107838814" "107838814" "subst" "0" "04100" "COL4A5_001539" "g.107838814G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108595584G>A" "" "likely pathogenic" "ACMG" "0001045125" "0" "90" "X" "107840653" "107840653" "subst" "0" "04100" "COL4A5_001913" "g.107840653G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108597423G>A" "" "pathogenic" "ACMG" "0001045126" "21" "70" "X" "107841933" "107841933" "subst" "0" "04100" "COL4A5_001914" "g.107841933G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108598703G>T" "" "likely pathogenic" "ACMG" "0001045127" "0" "50" "X" "107846275" "107846275" "subst" "0" "04100" "COL4A5_000105" "g.107846275G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108603045G>A" "" "VUS" "ACMG" "0001045128" "11" "70" "X" "107850041" "107850041" "subst" "0" "04100" "COL4A5_001915" "g.107850041G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108606811G>C" "" "likely pathogenic" "ACMG" "0001045129" "11" "90" "X" "107850056" "107850056" "subst" "0" "04100" "COL4A5_001916" "g.107850056C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108606826C>A" "" "VUS" "ACMG" "0001045130" "0" "90" "X" "107863584" "107863584" "subst" "0" "04100" "COL4A5_000119" "g.107863584G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620354G>A" "" "pathogenic" "ACMG" "0001045131" "21" "90" "X" "107863603" "107863603" "subst" "0" "04100" "COL4A5_000121" "g.107863603G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620373G>A" "" "likely pathogenic" "ACMG" "0001045132" "21" "90" "X" "107865033" "107865033" "subst" "0" "04100" "COL4A5_001613" "g.107865033G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108621803G>A" "" "likely pathogenic" "ACMG" "0001045133" "21" "50" "X" "107868977" "107868977" "subst" "0" "04100" "COL4A5_001918" "g.107868977T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108625747T>C" "" "VUS" "ACMG" "0001045134" "21" "90" "X" "107898633" "107898633" "subst" "0" "04100" "COL4A5_000153" "g.107898633G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108655403G>A" "" "pathogenic" "ACMG" "0001045135" "21" "90" "X" "107911611" "107911611" "subst" "0" "04100" "COL4A5_001235" "g.107911611G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108668381G>A" "" "likely pathogenic" "ACMG" "0001045136" "21" "70" "X" "107917983" "107917983" "subst" "0" "04100" "COL4A5_001922" "g.107917983G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108674753G>T" "" "likely pathogenic" "ACMG" "0001045137" "21" "70" "X" "107920730" "107920730" "subst" "0" "04100" "COL4A5_001923" "g.107920730G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108677500G>A" "" "likely pathogenic" "ACMG" "0001045138" "21" "70" "X" "107683427" "107683450" "del" "0" "04100" "COL4A5_001910" "g.107683427_107683450del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108440197_108440220del" "" "VUS" "ACMG" "0001045139" "21" "90" "X" "107869482" "107869482" "del" "0" "04100" "COL4A5_001919" "g.107869482del" "" "" "" "3148del" "" "Germline" "" "" "0" "" "" "g.108626252del" "" "likely pathogenic" "ACMG" "0001045140" "21" "90" "X" "107923952" "107923952" "del" "0" "04100" "COL4A5_001924" "g.107923952del" "" "" "" "3985del" "" "Germline" "" "" "0" "" "" "g.108680722del" "" "pathogenic" "ACMG" "0001045141" "21" "90" "X" "107863556" "107863556" "del" "0" "04100" "COL4A5_001917" "g.107863556del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108620326del" "" "likely pathogenic" "ACMG" "0001045142" "21" "90" "X" "107908776" "107908776" "del" "0" "04100" "COL4A5_001920" "g.107908776del" "" "" "" "3411del" "" "Germline" "" "" "0" "" "" "g.108665546del" "" "pathogenic" "ACMG" "0001045143" "21" "90" "X" "107823934" "107823934" "del" "0" "04100" "COL4A5_001912" "g.107823934del" "" "" "" "856del" "" "Germline" "" "" "0" "" "" "g.108580704del" "" "likely pathogenic" "ACMG" "0001045144" "21" "90" "X" "107938529" "107938530" "del" "0" "04100" "COL4A5_001925" "g.107938529_107938530del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108695299_108695300del" "" "likely pathogenic" "ACMG" "0001045145" "0" "90" "X" "107908776" "107908776" "del" "0" "04100" "COL4A5_000644" "g.107908776del" "" "" "" "3411del" "" "Germline" "" "" "0" "" "" "g.108665546del" "" "pathogenic" "ACMG" "0001045146" "0" "90" "X" "107909784" "107909784" "del" "0" "04100" "COL4A5_001921" "g.107909784del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108666554del" "" "pathogenic" "ACMG" "0001045147" "0" "90" "X" "107938636" "107938636" "subst" "0" "04100" "COL4A5_001926" "g.107938636G>A" "" "" "" "NM_000495.4:c.4943G>A (W1648X)" "" "Germline" "" "" "0" "" "" "g.108695406G>A" "" "pathogenic" "ACMG" "0001045148" "0" "90" "X" "107939579" "107939579" "subst" "0" "04100" "COL4A5_001928" "g.107939579C>T" "" "" "" "NM_033380.2:c.5029C>T (R1677X)" "" "Germline" "" "" "0" "" "" "g.108696349C>T" "" "pathogenic" "ACMG" "0001046834" "0" "30" "X" "107815022" "107815022" "subst" "0" "02327" "COL4A5_001929" "g.107815022C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046835" "0" "90" "X" "107826150" "107826150" "subst" "0" "02326" "COL4A5_000037" "g.107826150G>A" "" "" "" "COL4A5(NM_000495.5):c.973G>A (p.G325R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes COL4A5 ## Count = 2678 "{{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}}" "0000002096" "00024106" "30" "2041" "60" "2041" "61" "c.2041+60_2041+61dup" "r.(=)" "p.(=)" "26i" "0000002097" "00024106" "30" "2244" "216" "2244" "216" "c.2244+216dup" "r.(?)" "p.(=)" "28i" "0000002098" "00024106" "30" "2244" "215" "2244" "216" "c.2244+215_2244+216dup" "r.(?)" "p.(=)" "28i" "0000003157" "00024106" "30" "81" "65" "81" "65" "c.81+65del" "r.(?)" "p.(=)" "1i" "0000003158" "00024106" "30" "609" "169" "609" "172" "c.609+169_609+172del" "r.(?)" "p.(=)" "10i" "0000007435" "00024106" "30" "2395" "213" "2395" "213" "c.2395+213T>G" "r.(?)" "p.(=)" "29i" "0000009559" "00024106" "30" "2395" "213" "2395" "213" "c.2395+213T>G" "r.(?)" "p.(=)" "29i" "0000011146" "00024106" "30" "609" "169" "609" "172" "c.609+169_609+172del" "r.(?)" "p.(=)" "10i" "0000130109" "00024106" "70" "4341" "0" "4341" "0" "c.4341del" "r.(?)" "p.(Gly1448Valfs*106)" "" "0000150957" "00024106" "90" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Asp)" "20" "0000150958" "00024106" "90" "1992" "0" "1992" "0" "c.1992G>T" "r.(?)" "p.(Lys664Asn)" "26" "0000150959" "00024106" "30" "2571" "0" "2571" "0" "c.2571A>G" "r.(?)" "p.(=)" "31" "0000150960" "00024106" "90" "13" "0" "13" "0" "c.13G>T" "r.(?)" "p.(Gly5*)" "1" "0000150961" "00024106" "90" "87" "0" "87" "0" "c.87C>A" "r.(?)" "p.(Cys29*)" "2" "0000150962" "00024106" "90" "90" "0" "90" "0" "c.90T>G" "r.(?)" "p.(Tyr30*)" "2" "0000150963" "00024106" "90" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Gly48Arg)" "3" "0000150964" "00024106" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Gly54Asp)" "3" "0000150965" "00024106" "90" "386" "0" "386" "0" "c.386G>T" "r.(?)" "p.(Gly129Val)" "7" "0000150966" "00024106" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Gly129Glu)" "7" "0000150967" "00024106" "90" "388" "0" "388" "0" "c.388G>T" "r.(?)" "p.(Glu130*)" "7" "0000150968" "00024106" "90" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Gly144Ser)" "7" "0000150969" "00024106" "90" "520" "0" "520" "0" "c.520G>C" "r.(?)" "p.(Gly174Arg)" "9" "0000150970" "00024106" "90" "529" "0" "529" "0" "c.529G>C" "r.(?)" "p.(Gly177Arg)" "9" "0000150971" "00024106" "90" "548" "0" "548" "0" "c.548G>T" "r.(?)" "p.(Gly183Val)" "10" "0000150972" "00024106" "90" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Gly192Arg)" "10" "0000150973" "00024106" "90" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Gly195Asp)" "10" "0000150974" "00024106" "90" "602" "0" "602" "0" "c.602G>T" "r.(?)" "p.(Gly201Val)" "10" "0000150975" "00024106" "90" "611" "0" "611" "0" "c.611G>T" "r.(?)" "p.(Gly204Val)" "11" "0000150976" "00024106" "90" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" "12" "0000150977" "00024106" "90" "647" "0" "647" "0" "c.647G>T" "r.(?)" "p.(Gly216Val)" "12" "0000150978" "00024106" "90" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Ser)" "12" "0000150979" "00024106" "90" "688" "0" "688" "0" "c.688G>C" "r.(?)" "p.(Gly230Arg)" "13" "0000150980" "00024106" "90" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Gly239Glu)" "13" "0000150981" "00024106" "90" "790" "0" "790" "0" "c.790G>C" "r.(?)" "p.(Gly264Arg)" "14" "0000150982" "00024106" "90" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Gly264Asp)" "14" "0000150983" "00024106" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266*)" "14" "0000150984" "00024106" "90" "859" "0" "859" "0" "c.859G>T" "r.(?)" "p.(Glu287*)" "15" "0000150985" "00024106" "90" "4282" "0" "4282" "0" "c.4282C>T" "r.(?)" "p.(Arg1428Cys)" "48" "0000150986" "00024106" "90" "874" "0" "874" "0" "c.874G>C" "r.(?)" "p.(Gly292Arg)" "15" "0000150987" "00024106" "90" "875" "0" "875" "0" "c.875G>T" "r.(?)" "p.(Gly292Val)" "15" "0000150988" "00024106" "90" "884" "0" "884" "0" "c.884G>A" "r.(?)" "p.(Gly295Asp)" "15" "0000150989" "00024106" "90" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Gly298Ser)" "16" "0000150990" "00024106" "90" "913" "0" "913" "0" "c.913G>T" "r.(?)" "p.(Glu305*)" "16" "0000150991" "00024106" "90" "955" "0" "955" "0" "c.955G>C" "r.(?)" "p.(Gly319Arg)" "17" "0000150992" "00024106" "90" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000150993" "00024106" "90" "973" "0" "973" "0" "c.973G>T" "r.(?)" "p.(Gly325*)" "17" "0000150994" "00024106" "90" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Gly325Glu)" "17" "0000150995" "00024106" "90" "992" "0" "992" "0" "c.992G>T" "r.(?)" "p.(Gly331Val)" "18" "0000150996" "00024106" "90" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Gly365Glu)" "19" "0000150997" "00024106" "90" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Gly371Glu)" "19" "0000150998" "00024106" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373*)" "19" "0000150999" "00024106" "90" "1121" "0" "1121" "0" "c.1121G>C" "r.(?)" "p.(Gly374Ala)" "19" "0000151000" "00024106" "90" "1139" "0" "1139" "0" "c.1139G>A" "r.(?)" "p.(Gly380Asp)" "19" "0000151001" "00024106" "90" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Gly383Asp)" "19" "0000151002" "00024106" "90" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Gly400Glu)" "20" "0000151003" "00024106" "90" "1217" "0" "1217" "0" "c.1217G>T" "r.(?)" "p.(Gly406Val)" "20" "0000151004" "00024106" "90" "1219" "0" "1219" "0" "c.1219C>T" "r.(?)" "p.(Gln407*)" "20" "0000151005" "00024106" "90" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "20" "0000151006" "00024106" "90" "1235" "0" "1235" "0" "c.1235G>T" "r.(?)" "p.(Gly412Val)" "20" "0000151007" "00024106" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Gly415Arg)" "20" "0000151008" "00024106" "90" "1259" "0" "1259" "0" "c.1259G>T" "r.(?)" "p.(Gly420Val)" "20" "0000151009" "00024106" "90" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Gly420Glu)" "20" "0000151010" "00024106" "90" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Gly423Glu)" "20" "0000151011" "00024106" "90" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Gly426Arg)" "20" "0000151012" "00024106" "90" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Gly429Glu)" "20" "0000151013" "00024106" "90" "1397" "0" "1397" "0" "c.1397G>A" "r.(?)" "p.(Gly466Glu)" "21" "0000151014" "00024106" "90" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Gly469Glu)" "21" "0000151015" "00024106" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Gly472Arg)" "21" "0000151016" "00024106" "90" "1472" "0" "1472" "0" "c.1472G>A" "r.(?)" "p.(Gly491Glu)" "22" "0000151017" "00024106" "90" "1481" "0" "1481" "0" "c.1481G>A" "r.(?)" "p.(Gly494Asp)" "22" "0000151018" "00024106" "90" "1489" "0" "1489" "0" "c.1489G>T" "r.(?)" "p.(Gly497Cys)" "22" "0000151019" "00024106" "90" "1498" "0" "1498" "0" "c.1498G>C" "r.(?)" "p.(Gly500Arg)" "22" "0000151020" "00024106" "90" "1561" "0" "1561" "0" "c.1561G>T" "r.(?)" "p.(Gly521Cys)" "23" "0000151021" "00024106" "90" "1571" "0" "1571" "0" "c.1571G>A" "r.(?)" "p.(Gly524Asp)" "23" "0000151022" "00024106" "90" "1607" "0" "1607" "0" "c.1607G>A" "r.(?)" "p.(Gly536Asp)" "24" "0000151023" "00024106" "90" "1633" "0" "1633" "0" "c.1633G>C" "r.(?)" "p.(Gly545Arg)" "24" "0000151024" "00024106" "90" "1634" "0" "1634" "0" "c.1634G>T" "r.(?)" "p.(Gly545Val)" "24" "0000151025" "00024106" "90" "1672" "0" "1672" "0" "c.1672G>C" "r.(?)" "p.(Gly558Arg)" "24" "0000151026" "00024106" "90" "1681" "0" "1681" "0" "c.1681G>A" "r.(?)" "p.(Gly561Arg)" "24" "0000151027" "00024106" "90" "1690" "0" "1690" "0" "c.1690G>C" "r.(?)" "p.(Gly564Arg)" "24" "0000151028" "00024106" "90" "1700" "0" "1700" "0" "c.1700G>C" "r.(?)" "p.(Gly567Ala)" "24" "0000151029" "00024106" "90" "1718" "0" "1718" "0" "c.1718G>A" "r.(?)" "p.(Gly573Asp)" "24" "0000151030" "00024106" "90" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Gly579Arg)" "24" "0000151031" "00024106" "90" "1736" "0" "1736" "0" "c.1736G>A" "r.1736g>a" "p.Gly579Glu" "24" "0000151032" "00024106" "90" "1780" "0" "1780" "0" "c.1780G>A" "r.(?)" "p.(Gly594Ser)" "25" "0000151033" "00024106" "90" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Gly595Arg)" "25" "0000151034" "00024106" "90" "1808" "0" "1808" "0" "c.1808G>T" "r.(?)" "p.(Gly603Val)" "25" "0000151035" "00024106" "90" "1825" "0" "1825" "0" "c.1825G>C" "r.(?)" "p.(Gly609Arg)" "25" "0000151036" "00024106" "90" "1826" "0" "1826" "0" "c.1826G>T" "r.(?)" "p.(Gly609Val)" "25" "0000151037" "00024106" "70" "1856" "0" "1856" "0" "c.1856C>T" "r.(?)" "p.(Pro619Leu)" "25" "0000151038" "00024106" "90" "1861" "0" "1861" "0" "c.1861G>T" "r.(?)" "p.(Gly621Cys)" "25" "0000151039" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "25" "0000151040" "00024106" "90" "1877" "0" "1877" "0" "c.1877G>C" "r.(?)" "p.(Gly626Ala)" "25" "0000151041" "00024106" "90" "1886" "0" "1886" "0" "c.1886G>A" "r.(?)" "p.(Gly629Asp)" "25" "0000151042" "00024106" "90" "1895" "0" "1895" "0" "c.1895G>A" "r.(?)" "p.(Gly632Asp)" "25" "0000151043" "00024106" "90" "1897" "0" "1897" "0" "c.1897G>A" "r.1897g>a" "p.Glu633Lys" "25" "0000151044" "00024106" "90" "1904" "0" "1904" "0" "c.1904G>A" "r.(?)" "p.(Gly635Asp)" "25" "0000151045" "00024106" "90" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Gly638Ser)" "25" "0000151046" "00024106" "90" "1913" "0" "1913" "0" "c.1913G>C" "r.(?)" "p.(Gly638Ala)" "25" "0000151047" "00024106" "90" "1913" "0" "1913" "0" "c.1913G>T" "r.(?)" "p.(Gly638Val)" "25" "0000151048" "00024106" "90" "1957" "0" "1957" "0" "c.1957G>A" "r.(?)" "p.(Gly653Arg)" "26" "0000151049" "00024106" "90" "2006" "0" "2006" "0" "c.2006G>C" "r.(?)" "p.(Gly669Ala)" "26" "0000151050" "00024106" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Gly675Ser)" "26" "0000151051" "00024106" "90" "2042" "0" "2042" "0" "c.2042G>A" "r.(?)" "p.(Gly681Asp)" "27" "0000151052" "00024106" "90" "2050" "0" "2050" "0" "c.2050G>T" "r.(?)" "p.(Gly684*)" "27" "0000151053" "00024106" "90" "2051" "0" "2051" "0" "c.2051G>T" "r.(?)" "p.(Gly684Val)" "27" "0000151054" "00024106" "90" "2060" "0" "2060" "0" "c.2060G>A" "r.(?)" "p.(Gly687Glu)" "27" "0000151055" "00024106" "90" "2146" "0" "2146" "0" "c.2146G>C" "r.(?)" "p.(Gly716Arg)" "27" "0000151056" "00024106" "90" "2165" "0" "2165" "0" "c.2165G>A" "r.(?)" 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"3i" "0000151182" "00024106" "90" "232" "-24" "232" "-24" "c.232-24C>A" "r.spl?" "p.?" "3i" "0000151183" "00024106" "90" "277" "-1" "277" "-1" "c.277-1G>T" "r.spl" "p.?" "4i" "0000151184" "00024106" "90" "322" "-1" "322" "-1" "c.322-1G>A" "r.spl" "p.?" "5i" "0000151185" "00024106" "90" "385" "-1" "385" "-1" "c.385-1G>C" "ex7del" "p.?" "6i" "0000151186" "00024106" "90" "466" "-2" "466" "-2" "c.466-2A>G" "ex9del" "p.?" "8i" "0000151187" "00024106" "90" "547" "-1" "547" "-1" "c.547-1G>A" "r.spl" "p.?" "9i" "0000151188" "00024106" "90" "546" "1" "546" "1" "c.546+1G>A" "r.spl" "p.?" "9i" "0000151189" "00024106" "90" "609" "1" "609" "1" "c.609+1G>A" "r.spl" "p.?" "10i" "0000151190" "00024106" "90" "610" "-2" "610" "-2" "c.610-2A>T" "r.spl" "p.?" "10i" "0000151191" "00024106" "90" "646" "-3" "646" "-3" "c.646-3C>A" "r.spl?" "p.?" "11i" "0000151192" "00024106" "90" "687" "1" "687" "1" "c.687+1G>A" "r.spl" "p.?" "12i" "0000151193" "00024106" "90" "688" "-3" "688" "-3" "c.688-3C>G" "r.spl" "p.?" "12i" "0000151194" "00024106" "90" "834" "1" "834" "1" "c.834+1G>A" "r.spl" "p.?" "14i" "0000151195" "00024106" "90" "891" "1" "891" "1" "c.891+1G>A" "r.spl" "p.?" "15i" "0000151196" "00024106" "90" "892" "-1" "892" "-1" "c.892-1G>C" "r.spl" "p.?" "15i" "0000151197" "00024106" "90" "892" "-2" "892" "-2" "c.892-2A>G" "r.spl" "p.?" "15i" "0000151198" "00024106" "90" "1165" "1" "1165" "1" "c.1165+1G>A" "r.spl?" "p.?" "19i" "0000151199" "00024106" "90" "1165" "2" "1165" "2" "c.1165+2T>G" "r.spl?" "p.?" "19i" "0000151200" "00024106" "90" "1340" "-2" "1340" "-2" "c.1340-2A>G" "r.spl?" "p.?" "20i" "0000151201" "00024106" "90" "1423" "1" "1423" "1" "c.1423+1G>A" "r.spl?" "p.?" "21i" "0000151202" "00024106" "90" "1587" "1" "1587" "1" "c.1587+1G>A" "r.spl?" "p.?" "23i" "0000151203" "00024106" "90" "1779" "1" "1779" "1" "c.1779+1G>T" "r.spl?" "p.?" "24i" "0000151204" "00024106" "90" "2041" "1" "2041" "1" "c.2041+1G>T" "r.spl?" "p.?" "26i" "0000151205" "00024106" "90" "2147" "-3" "2147" "-3" "c.2147-3C>G" "r.spl?" "p.?" "27i" "0000151206" "00024106" "90" "2244" "1" "2244" "1" "c.2244+1G>A" "r.spl?" "p.?" "28i" "0000151207" "00024106" "90" "2245" "-1" "2245" "-1" "c.2245-1G>A" "r.spl?" "p.?" "28i" "0000151208" "00024106" "90" "2395" "2750" "2395" "2750" "c.2395+2750A>G" "r.2395_2396ins2395+2751_2395_2780" "p.Gly799_Lys800ins10" "29i" "0000151209" "00024106" "90" "2678" "-10" "2678" "-10" "c.2678-10T>G" "r.spl?" "p.(=)" "31i" "0000151210" "00024106" "90" "2917" "1" "2917" "1" "c.2917+1G>T" "r.spl" "p.?" "33i" "0000151211" "00024106" "90" "2917" "1" "2917" "1" "c.2917+1G>C" "r.spl" "p.?" "33i" "0000151212" "00024106" "90" "2918" "-1" "2918" "-1" "c.2918-1G>T" "r.spl" "p.?" "33i" "0000151213" "00024106" "90" "3016" "1" "3016" "1" "c.3016+1G>T" "r.spl" "p.?" "34i" "0000151214" "00024106" "90" "3017" "-1" "3017" "-1" "c.3017-1G>A" "r.spl" "p.?" "34i" "0000151215" "00024106" "90" "3107" "-2" "3107" "-2" "c.3107-2A>G" "r.spl" "p.?" "35i" "0000151216" "00024106" "90" "3374" "-11" "3374" "-11" "c.3374-11C>A" "r.spl?" "p.(=)" "37i" "0000151217" "00024106" "90" "3454" "1" "3454" "1" "c.3454+1G>C" "r.spl" "p.?" "38i" "0000151218" "00024106" "90" "3454" "1" "3454" "1" "c.3454+1G>T" "del38" "p.(?)" "38i" "0000151219" "00024106" "90" "3455" "-9" "3455" "-9" "c.3455-9A>G" "r.spl?" "p.(=)" "38i" "0000151220" "00024106" "90" "3554" "-1" "3554" "-1" "c.3554-1G>A" "r.spl" "p.?" "39i" "0000151221" "00024106" "90" "3554" "-3" "3554" "-3" "c.3554-3C>G" "r.spl?" "p.?" "39i" "0000151222" "00024106" "90" "3554" "-9" "3554" "-9" "c.3554-9C>G" "r.spl?" "p.(=)" "39i" "0000151223" "00024106" "90" "3605" "-1" "3605" "-1" "c.3605-1G>A" "r.spl" "p.?" "40i" "0000151224" "00024106" "90" "3605" "-2" "3605" "-2" "c.3605-2A>T" "r.spl" "p.?" "40i" "0000151225" "00024106" "90" "3809" "-1" "3809" "-1" "c.3809-1G>A" "r.spl" "p.?" "43i" "0000151226" "00024106" "90" "3942" "1" "3942" "1" "c.3942+1G>C" "r.spl" "p.?" "44i" "0000151227" "00024106" "90" "3943" "-1" "3943" "-1" "c.3943-1G>A" "r.spl" "p.?" "44i" "0000151228" "00024106" "90" "4016" "-2" "4016" "-2" "c.4016-2A>G" "r.spl" "p.?" "45i" "0000151229" "00024106" "90" "4087" "1" "4087" "1" "c.4087+1G>A" "r.spl" "p.?" "46i" "0000151230" "00024106" "90" "4316" "-1" "4316" "-1" "c.4316-1G>C" "r.spl" "p.?" "48i" "0000151231" "00024106" "90" "4528" "1" "4528" "1" "c.4528+1G>C" "r.spl" "p.?" "49i" "0000151232" "00024106" "90" "4821" "1" "4821" "1" "c.4821+1G>A" "r.spl" "p.?" "51i" "0000151233" "00024106" "90" "4995" "-2" "4995" "-2" "c.4995-2A>G" "r.spl" "p.?" "52i" "0000151234" "00024106" "90" "1095" "0" "1103" "0" "c.1095_1103del" "r.(?)" "p.(Leu366_Gly368del)" "19" "0000151235" "00024106" "90" "1371" "0" "1379" "0" "c.1371_1379del" "r.(?)" "p.(Pro458_Gly460del)" "21" "0000151236" "00024106" "90" "1371" "0" "1379" "0" "c.1371_1379del" "r.(?)" "p.(Pro458_Gly460del)" "21" "0000151237" "00024106" "90" "1483" "0" "1516" "2" "c.1483_1516+2del" "r.spl" "p.?" "22_22i" "0000151238" "00024106" "90" "2411" "0" "2428" "0" "c.2411_2428del" "r.(?)" "p.(Asn804_Pro809del)" "30" "0000151239" "00024106" "90" "2475" "0" "2483" "0" "c.2475_2483del" "r.(?)" "p.(Pro826_Gly828del)" "30" "0000151240" "00024106" "90" "2550" "0" "2573" "0" "c.2550_2573del" "r.(?)" "p.(Leu853_Gly860del)" "31" "0000151241" "00024106" "90" "2589" "0" "2624" "0" "c.2589_2624del" "r.(?)" "p.(Ser864_Gly875del)" "31" "0000151242" "00024106" "90" "2825" "0" "2827" "0" "c.2825_2827del" "r.(?)" "p.(Ser942del)" "33" "0000151243" "00024106" "90" "2965" "0" "2982" "0" "c.2965_2982del" "r.(?)" "p.(Asp989_Gly994del)" "34" "0000151244" "00024106" "90" "3657" "0" "3728" "0" "c.3657_3728del" "r.(?)" "p.(Lys1222_Pro1245del)" "41" "0000151245" "00024106" "90" "4344" "0" "4379" "0" "c.4344_4379dup" "r.(?)" "p.(Pro1449_Gly1460dup)" "49" "0000151246" "00024106" "90" "252" "0" "252" "0" "c.252del" "r.(?)" "p.(Pro85Hisfs*70)" "4" "0000151247" "00024106" "90" "293" "0" "293" "0" "c.293del" "r.(?)" "p.(Pro98Leufs*57)" "5" "0000151248" "00024106" "90" "440" "0" "440" "0" "c.440del" "r.440del" "p.Gly147Aspfs*8" "8" "0000151249" "00024106" "90" "446" "0" "446" "0" "c.446del" "r.(?)" "p.(Pro149Leufs*6)" "8" "0000151250" "00024106" "90" "533" "0" "533" "0" "c.533del" "r.(?)" "p.(Pro178Leufs*25)" "9" "0000151251" "00024106" "90" "611" "0" "629" "0" "c.611_629del" "r.611_629del" "p.(Gly204AspfsTer11)" "11" "0000151252" "00024106" "90" "635" "0" "635" "0" "c.635del" "r.(?)" "p.(Pro212Glnfs*9)" "11" "0000151253" "00024106" "90" "689" "0" "689" "0" "c.689del" "r.(?)" "p.(Gly230Valfs*24)" "13" "0000151254" "00024106" "90" "761" "0" "762" "0" "c.761_762del" "r.(?)" "p.(Glu254Valfs*11)" "13" "0000151255" "00024106" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Arg297Glufs*49)" "15" "0000151256" "00024106" "90" "972" "0" "972" "0" "c.972del" "r.(?)" "p.(Gly325Glufs*21)" "17" "0000151257" "00024106" "90" "1013" "0" "1013" "0" "c.1013del" "r.(?)" "p.(Pro338Hisfs*8)" "18" "0000151258" "00024106" "90" "1074" "0" "1074" "0" "c.1074del" "r.(?)" "p.(Gly359Glufs*115)" "19" "0000151259" "00024106" "90" "1265" "0" "1265" "0" "c.1265del" "r.(?)" "p.(Pro422Leufs*52)" "20" "0000151260" "00024106" "90" "1315" "0" "1316" "0" "c.1315_1316del" "r.(?)" "p.(Pro439Cysfs*8)" "20" "0000151261" "00024106" "90" "1350" "0" "1351" "0" "c.1350_1351del" "r.(?)" "p.(Ile450Metfs*2)" "21" "0000151262" "00024106" "90" "1376" "0" "1376" "0" "c.1376del" "r.(?)" "p.(Pro459Glnfs*15)" "21" "0000151263" "00024106" "90" "1542" "0" "1543" "0" "c.1542_1543del" "r.(?)" "p.(Glu516Lysfs*28)" "23" "0000151264" "00024106" "90" "1567" "0" "1567" "0" "c.1567del" "r.(?)" "p.(Thr523Leufs*34)" "23" "0000151265" "00024106" "90" "1581" "0" "1587" "9" "c.1581_1587+9del" "r.spl" "p.?" "23_23i" "0000151266" "00024106" "90" "1960" "0" "1960" "0" "c.1960del" "r.(?)" "p.(Asp654Ilefs*6)" "26" "0000151267" "00024106" "90" "1969" "0" "1969" "0" "c.1969del" "r.(?)" "p.(Gln657Argfs*3)" "26" "0000151268" "00024106" "90" "2018" "0" "2018" "0" "c.2018del" "r.(?)" "p.(Arg673Lysfs*5)" "26" "0000151269" "00024106" "90" "2147" "0" "2147" "0" "c.2147del" "r.(?)" "p.(Gly716Alafs*20)" "28" "0000151270" "00024106" "90" "2348" "0" "2348" "0" "c.2348del" "r.(?)" "p.(Pro783Argfs*9)" "29" "0000151271" "00024106" "90" "2625" "0" "2625" "0" "c.2625del" "r.(?)" "p.(Pro876Leufs*25)" "31" "0000151272" "00024106" "90" "2643" "0" "2643" "0" "c.2643del" "r.(?)" "p.(Leu882Phefs*19)" "31" "0000151273" "00024106" "90" "2928" "0" "2929" "0" "c.2928_2929del" "r.(?)" "p.(Val977Phefs*33)" "34" "0000151274" "00024106" "90" "2943" "0" "2943" "0" "c.2943del" "r.(?)" "p.(Gly982Valfs*14)" "34" "0000151275" "00024106" "90" "2965" "0" "2965" "0" "c.2965del" "r.(?)" "p.(Asp989Thrfs*7)" "34" "0000151276" "00024106" "90" "3057" "0" "3057" "0" "c.3057del" "r.(?)" "p.(Ile1020*)" "35" "0000151277" "00024106" "90" "3331" "0" "3331" "0" "c.3331del" "r.(?)" "p.(Thr1111Profs*41)" "37" "0000151278" "00024106" "90" "3474" "0" "3474" "0" "c.3474del" "r.(?)" "p.(Gln1159Asnfs*146)" "39" "0000151279" "00024106" "90" "3509" "0" "3509" "0" "c.3509del" "r.(?)" "p.(Gly1170Valfs*135)" "39" "0000151280" "00024106" "90" "3527" "0" "3527" "0" "c.3527del" "r.(?)" "p.(Gly1176Aspfs*129)" "39" "0000151281" "00024106" "90" "3543" "0" "3549" "0" "c.3543_3549del" "r.(?)" "p.(Lys1181Asnfs*122)" "39" "0000151282" "00024106" "90" "3614" "0" "3614" "0" "c.3614del" "r.(?)" "p.(Gly1205Valfs*100)" "41" "0000151283" "00024106" "90" "3618" "0" "3621" "0" "c.3618_3621del" "r.(?)" "p.(Asp1206Glufs*98)" "41" "0000151284" "00024106" "90" "3647" "0" "3647" "0" "c.3647del" "r.(?)" "p.(Pro1216Leufs*89)" "41" "0000151285" "00024106" "90" "3692" "0" "3692" "0" "c.3692del" "r.(?)" "p.(Pro1231Leufs*74)" "41" "0000151286" "00024106" "90" "3833" "0" "3833" "0" "c.3833del" "r.(?)" "p.(Pro1278Glnfs*27)" "44" "0000151287" "00024106" "90" "3875" "0" "3881" "0" "c.3875_3881del" "r.(?)" "p.(Asn1292Thrfs*11)" "44" "0000151288" "00024106" "90" "3938" "0" "3938" "0" "c.3938del" "r.(?)" "p.(Leu1313Profs*13)" "44" "0000151289" "00024106" "90" "4010" "0" "4010" "0" "c.4010del" "r.(?)" "p.(Phe1337Serfs*4)" "45" "0000151290" "00024106" "90" "4089" "0" "4089" "0" "c.4089del" "r.(?)" "p.(Pro1364Leufs*13)" "47" "0000151291" "00024106" "90" "4120" "0" "4121" "0" "c.4120_4121del" "r.(?)" "p.(Ser1374Tyrfs*4)" "47" "0000151292" "00024106" "90" "4454" "0" "4455" "0" "c.4454_4455del" "r.(?)" "p.(Gly1485Aspfs*6)" "49" "0000151293" "00024106" "90" "4456" "0" "4456" "0" "c.4456del" "r.(?)" "p.(Thr1486Hisfs*68)" "49" "0000151294" "00024106" "90" "4509" "0" "4510" "0" "c.4509_4510del" "r.4509_4510del" "p.Arg1503Serfs*17" "49" "0000151295" "00024106" "90" "4768" "0" "4774" "0" "c.4768_4774del" "r.(?)" "p.(Pro1590Valfs*15)" "51" "0000151296" "00024106" "90" "4850" "0" "4850" "0" "c.4850del" "r.(?)" "p.(Gly1617Valfs*4)" "52" "0000151297" "00024106" "90" "4986" "0" "4986" "0" "c.4986del" "r.4986del" "p.Asp1662Glufs*11" "52" "0000151298" "00024106" "90" "5012" "0" "5019" "0" "c.5012_5019del" "r.(?)" "p.(Thr1671Serfs*9)" "53" "0000151299" "00024106" "90" "5012" "0" "5019" "0" "c.5012_5019del" "r.(?)" "p.(Thr1671Serfs*9)" "53" "0000151300" "00024106" "90" "5052" "0" "5052" "0" "c.5052del" "r.(?)" "p.(Gln1685Lysfs*4)" "53" "0000151301" "00024106" "90" "152" "0" "153" "0" "c.152_153delinsAGGT" "r.(?)" "p.(Gly51Glufs*105)" "3" "0000151302" "00024106" "90" "548" "0" "548" "0" "c.548dup" "r.(?)" "p.(Gly183Alafs*33)" "10" "0000151303" "00024106" "90" "945" "0" "945" "0" "c.945dup" "r.(?)" "p.(Gly316Trpfs*2)" "17" "0000151304" "00024106" "90" "1062" "0" "1062" "0" "c.1062dup" "r.(?)" "p.(Ile355Tyrfs*56)" "19" "0000151305" "00024106" "90" "1213" "0" "1213" "0" "c.1213dup" "r.(?)" "p.(Arg405Lysfs*6)" "20" "0000151306" "00024106" "90" "1214" "0" "1217" "0" "c.1214_1217dup" "r.(?)" "p.(Gln407Glyfs*5)" "20" "0000151307" "00024106" "90" "1280" "0" "1280" "0" "c.1280dup" "r.(?)" "p.(Pro428Alafs*20)" "20" "0000151308" "00024106" "90" "2317" "0" "2318" "0" "c.2317_2318insA" "r.(?)" "p.(Pro773Hisfs*4)" "29" "0000151309" "00024106" "90" "2802" "0" "2802" "0" "c.2802dup" "r.(?)" "p.(Gly935Trpfs*8)" "33" "0000151310" "00024106" "90" "3334" "0" "3337" "0" "c.3334_3337dup" "r.(?)" "p.(Gly1113Alafs*25)" "37" "0000151311" "00024106" "90" "3709" "0" "3710" "0" "c.3709_3710dup" "r.(?)" "p.(Gly1238Glnfs*68)" "41" "0000151312" "00024106" "90" "3754" "0" "3757" "0" "c.3754_3757dup" "r.(?)" "p.(Asn1253Argfs*36)" "41" "0000151313" "00024106" "90" "4179" "0" "4180" "0" "c.4179_4180insTCCT" "r.(?)" "p.(Gly1394Serfs*31)" "47" "0000151314" "00024106" "90" "4214" "0" "4214" "0" "c.4214dup" "r.(?)" "p.(Gly1406Argfs*18)" "47" "0000151315" "00024106" "90" "4344" "0" "4344" "0" "c.4344dup" "r.(?)" "p.(Pro1449Serfs*43)" "49" "0000151316" "00024106" "90" "4571" "0" "4571" "0" "c.4571dup" "r.(?)" "p.(Met1525Hisfs*7)" "50" "0000151317" "00024106" "90" "4808" "0" "4808" "0" "c.4808dup" "r.(?)" "p.(Tyr1603*)" "51" "0000151318" "00024106" "90" "4814" "0" "4821" "2" "c.4814_4821+2dup" "r.spl" "p.?" "51_51i" "0000151320" "00024106" "90" "2434" "0" "2441" "0" "c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC" "r.(?)" "p.(Pro812Asnfs*50)" "30" "0000151321" "00024106" "90" "2452" "0" "2454" "0" "c.2452_2454delinsT" "r.(?)" "p.(Ile818Trpfs*36)" "30" "0000151322" "00024106" "90" "2747" "0" "2759" "0" "c.2747_2759delinsTA" "r.(?)" "p.(Ser916Ilefs*3)" "32" "0000151323" "00024106" "90" "4067" "0" "4072" "0" "c.4067_4072del" "r.(?)" "p.(Pro1356_Gly1357del)" "46" "0000151324" "00024106" "90" "4271" "0" "4280" "0" "c.4271_4280delins4281_4298" "r.?" "p.?" "48" "0000151325" "00024106" "90" "-1" "0" "5077" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_53_" "0000151326" "00024106" "90" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000151327" "00024106" "90" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000151328" "00024106" "90" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000151329" "00024106" "90" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000151330" "00024106" "90" "231" "-1" "891" "1" "c.(81+1_231-1)_(891+1_937-1)del" "r.0?" "p.0?" "1i_16i" "0000151331" "00024106" "90" "-1" "0" "384" "1" "c.(?_-1)_(384+1_385-1)del" "r.0?" "p.0?" "_1_6i" "0000151332" "00024106" "90" "-1" "0" "2509" "1" "c.(?_-1)_(2509+1_2510-1)del" "r.0?" "p.0?" "_1_30i" "0000151333" "00024106" "90" "-1" "0" "5077" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_53_" "0000151334" "00024106" "90" "82" "-1" "465" "1" "c.(81+1_82-1)_(465+1_466-1)del" "r.del" "p.(?)" "1i_8i" "0000151335" "00024106" "90" "82" "-1" "5077" "0" "c.(81+1_82-1)_(*1_?)del" "r.del" "p.(?)" "1i_51i" "0000151336" "00024106" "90" "142" "-1" "3373" "1" "c.(141+1_142-1)_(3373+1_23374-1)del" "r.del" "p.(?)" "2i_37i" "0000151337" "00024106" "90" "232" "-1" "4528" "1" "c.(231+1_232-1)_(4528+1_4529-1)del" "r.del" "p.(?)" "3i_49i" "0000151338" "00024106" "90" "232" "-1" "5077" "0" "c.(231+1_232-1)_(*1_?)del" "r.(?)" "p.(?)" "3i_53_" "0000151339" "00024106" "90" "1739" "0" "1948" "98" "c.1739_1948+98del" "r.del" "p.?" "24_25i" "0000151340" "00024106" "90" "1949" "-1" "2395" "1" "c.(1948+1_1949-1)_(2395+1_2396-1)del" "r.del" "p.(?)" "25i_29i" "0000151341" "00024106" "90" "2245" "-1" "2395" "1" "c.(2244+1_2245-1)_(2395+1_2396-1)del" "r.2245_2509del" "p.?" "28i_29i" "0000151342" "00024106" "90" "2245" "-1" "3246" "1" "c.(2244+1_2245-1)_(3246+1_3247-1)del" "r.2245_3246del" "p.?" "29i_36i" "0000151343" "00024106" "90" "3247" "-3" "3247" "-3" "c.3247-3A>C" "r.3247_3373del" "p.?" "36i" "0000151344" "00024106" "90" "3247" "-1" "4216" "1" "c.(3246+1_3247-1)_(4216+1_4217-1)del" "r.del" "p.(?)" "36i_47i" "0000151345" "00024106" "90" "3374" "-1" "3808" "1" "c.(3373+1_3374-1)_(3808+1_3809-1)del" "r.del" "p.(?)" "37i_43i" "0000151346" "00024106" "90" "3605" "-1" "5077" "0" "c.(3604+1_3605-1)_(*1_?)del" "r.del" "p.(?)" "40i_53_" "0000151347" "00024106" "90" "3943" "-1" "4087" "1" "c.(3942+1_3943-1)_(4087+1_4088-1)del" "r.del" "p.(?)" "44i_46i" "0000151348" "00024106" "90" "3943" "-1" "4528" "1" "c.(3942+1_3943-1)_(4528+1_4529-1)del" "r.del" "p.(?)" "44i_49i" "0000151349" "00024106" "90" "4707" "-1" "5077" "0" "c.(4706+1_4707-1)_(*1_?)del" "r.del" "p.(?)" "50i_53_" "0000151350" "00024106" "90" "3374" "-1" "5077" "0" "c.(3373+1_3374-1)_(*1_?)dup" "r.dup" "p.(?)" "37i_53_" "0000151351" "00024106" "90" "4528" "1" "4529" "-1" "c.4528+1_4529-1ins(10000)" "r.spl?" "p.?" "49i" "0000151352" "00024106" "10" "402" "0" "402" "0" "c.402A>T" "r.(?)" "p.(=)" "7" "0000151353" "00024106" "90" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Pro324Leu)" "17" "0000151354" "00024106" "10" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(=)" "19" "0000151355" "00024106" "90" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Asp)" "20" "0000151356" "00024106" "90" "1331" "0" "1331" "0" "c.1331T>G" "r.(?)" "p.(Ile444Ser)" "20" "0000151357" "00024106" "10" "1833" "0" "1833" "0" "c.1833A>G" "r.(?)" "p.(=)" "25" "0000151358" "00024106" "90" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(Pro619Ser)" "25" "0000151359" "00024106" "90" "1992" "0" "1992" "0" "c.1992G>T" "r.(?)" "p.(Lys664Asn)" "26" "0000151360" "00024106" "10" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(=)" "27" "0000151361" "00024106" "10" "2349" "0" "2349" "0" "c.2349G>A" "r.(?)" "p.(=)" "29" "0000151362" "00024106" "30" "3255" "0" "3255" "0" "c.3255T>A" "r.3255u>a" "p.=" "37" "0000151363" "00024106" "10" "3513" "0" "3513" "0" "c.3513A>G" "r.(?)" "p.(=)" "39" "0000151364" "00024106" "30" "3582" "0" "3582" "0" "c.3582C>T" "r.3582c>u" "p.=" "40" "0000151365" "00024106" "10" "4257" "0" "4257" "0" "c.4257C>T" "r.(?)" "p.(=)" "48" "0000151366" "00024106" "10" "4293" "0" "4293" "0" "c.4293C>T" "r.(?)" "p.(=)" "48" "0000151367" "00024106" "90" "4300" "0" "4300" "0" "c.4300C>A" "r.(?)" "p.(Leu1434Met)" "48" "0000151368" "00024106" "90" "4693" "0" "4693" "0" "c.4693C>G" "r.(?)" "p.(Pro1565Ala)" "50" "0000151369" "00024106" "10" "609" "21" "609" "21" "c.609+21T>C" "r.(?)" "p.(=)" "10i" "0000151370" "00024106" "10" "1033" "-15" "1033" "-15" "c.1033-15del" "r.(?)" "p.(=)" "18i" "0000151371" "00024106" "10" "2510" "-33" "2510" "-33" "c.2510-33A>G" "r.(?)" "p.(=)" "30i" "0000151372" "00024106" "10" "2768" "-11" "2768" "-11" "c.2768-11A>G" "r.(?)" "p.(=)" "32i" "0000151375" "00024106" "90" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000151376" "00024106" "90" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000151377" "00024106" "90" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000151378" "00024106" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373*)" "19" "0000151379" "00024106" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373*)" "19" "0000151381" "00024106" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373*)" "19" "0000151383" "00024106" "90" "1217" "0" "1217" "0" "c.1217G>T" "r.(?)" "p.(Gly406Val)" "20" "0000151385" "00024106" "90" "1219" "0" "1219" "0" "c.1219C>T" "r.(?)" "p.(Gln407*)" "20" "0000151387" "00024106" "90" "1718" "0" "1718" "0" "c.1718G>A" "r.(?)" "p.(Gly573Asp)" "24" "0000151388" "00024106" "90" "1780" "0" "1780" "0" "c.1780G>A" "r.(?)" "p.(Gly594Ser)" "25" "0000151389" "00024106" "90" "1780" "0" "1780" "0" "c.1780G>A" "r.(?)" "p.(Gly594Ser)" "25" "0000151390" "00024106" "90" "1780" "0" "1780" "0" "c.1780G>A" "r.(?)" "p.(Gly594Ser)" "25" "0000151391" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "25" "0000151392" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "25" "0000151393" "00024106" "90" "1904" "0" "1904" "0" "c.1904G>A" "r.(?)" "p.(Gly635Asp)" "25" "0000151398" "00024106" "90" "2597" "0" "2597" "0" "c.2597G>A" "r.(?)" "p.(Gly866Glu)" "31" "0000151400" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000151401" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000151402" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000151403" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000151405" "00024106" "90" "2821" "0" "2821" "0" "c.2821G>T" "r.(?)" "p.(Gly941Cys)" "33" "0000151406" "00024106" "90" "2858" "0" "2858" "0" "c.2858G>T" "r.(?)" "p.(Gly953Val)" "33" "0000151407" "00024106" "90" "3212" "0" "3212" "0" "c.3212C>G" "r.(?)" "p.(Ser1071*)" "36" "0000151408" "00024106" "90" "3319" "0" "3319" "0" "c.3319G>A" "r.(?)" "p.(Gly1107Arg)" "37" "0000151409" "00024106" "90" "3428" "0" "3428" "0" "c.3428G>A" "r.(?)" "p.(Gly1143Asp)" "38" "0000151410" "00024106" "90" "3428" "0" "3428" "0" "c.3428G>A" "r.(?)" "p.(Gly1143Asp)" "38" "0000151412" "00024106" "90" "4087" "0" "4087" "0" "c.4087G>A" "r.spl?" "p.(Gly1363Ser)" "46" "0000151413" "00024106" "90" "4567" "0" "4567" "0" "c.4567C>A" "r.(?)" "p.(Pro1523Thr)" "50" "0000151414" "00024106" "90" "4631" "0" "4631" "0" "c.4631G>C" "r.(?)" "p.(Trp1544Ser)" "50" "0000151415" "00024106" "90" "4705" "0" "4705" "0" "c.4705C>T" "r.(?)" "p.(Arg1569*)" "50" "0000151416" "00024106" "90" "4705" "0" "4705" "0" "c.4705C>T" "r.(?)" "p.(Arg1569*)" "50" "0000151417" "00024106" "90" "4705" "0" "4705" "0" "c.4705C>T" "r.(?)" "p.(Arg1569*)" "50" "0000151418" "00024106" "90" "4706" "0" "4706" "0" "c.4706G>A" "r.spl?" "p.(Arg1569Gln)" "50" "0000151419" "00024106" "90" "4706" "0" "4706" "0" "c.4706G>A" "r.spl?" "p.(Arg1569Gln)" "50" "0000151420" "00024106" "90" "4706" "0" "4706" "0" "c.4706G>A" "r.spl?" "p.(Arg1569Gln)" "50" "0000151421" "00024106" "90" "4821" "0" "4821" "0" "c.4821G>A" "r.spl?" "p.(Met1607Ile)" "51" "0000151422" "00024106" "90" "4821" "0" "4821" "0" "c.4821G>A" "r.spl?" "p.(Met1607Ile)" "51" "0000151423" "00024106" "90" "4964" "0" "4964" "0" "c.4964T>G" "r.(?)" "p.(Leu1655Arg)" "52" "0000151424" "00024106" "90" "4964" "0" "4964" "0" "c.4964T>G" "r.(?)" "p.(Leu1655Arg)" "52" "0000151425" "00024106" "90" "5047" "0" "5047" "0" "c.5047C>T" "r.(?)" "p.(Arg1683*)" "53" "0000151426" "00024106" "90" "5047" "0" "5047" "0" "c.5047C>T" "r.(?)" "p.(Arg1683*)" "53" "0000151427" "00024106" "90" "5047" "0" "5047" "0" "c.5047C>T" "r.(?)" "p.(Arg1683*)" "53" "0000151428" "00024106" "90" "5048" "0" "5048" "0" "c.5048G>A" "r.(?)" "p.(Arg1683Gln)" "53" "0000151429" "00024106" "90" "1032" "3" "1032" "6" "c.1032+3_1032+6del" "r.spl?" "p.?" "18i" "0000151431" "00024106" "90" "1587" "1" "1587" "1" "c.1587+1G>A" "r.spl?" "p.?" "23i" "0000151434" "00024106" "90" "3454" "1" "3454" "1" "c.3454+1G>T" "del38" "p.(?)" "38i" "0000151435" "00024106" "90" "3554" "-1" "3554" "-1" "c.3554-1G>A" "r.spl" "p.?" "39i" "0000151436" "00024106" "90" "3554" "-3" "3554" "-3" "c.3554-3C>G" "r.spl?" "p.?" "39i" "0000151437" "00024106" "90" "4528" "1" "4528" "1" "c.4528+1G>C" "r.spl" "p.?" "49i" "0000151438" "00024106" "90" "1365" "0" "1373" "0" "c.1365_1373del" "r.(?)" "p.(Pro458_Gly460del)" "21" "0000151439" "00024106" "90" "1483" "0" "1516" "2" "c.1483_1516+2del" "r.spl" "p.?" "22_22i" "0000151442" "00024106" "90" "761" "0" "762" "0" "c.761_762del" "r.(?)" "p.(Glu254Valfs*11)" "13" "0000151443" "00024106" "90" "1074" "0" "1074" "0" "c.1074del" "r.(?)" "p.(Gly359Glufs*115)" "19" "0000151446" "00024106" "90" "3614" "0" "3614" "0" "c.3614del" "r.(?)" "p.(Gly1205Valfs*100)" "41" "0000151448" "00024106" "90" "4986" "0" "4986" "0" "c.4986del" "r.(?)" "p.(Asp1662Glufs*11)" "52" "0000151449" "00024106" "90" "5012" "0" "5019" "0" "c.5012_5019del" "r.(?)" "p.(Thr1671Serfs*9)" "53" "0000151450" "00024106" "90" "550" "0" "550" "0" "c.550dup" "r.(?)" "p.(Leu184Profs*32)" "10" "0000151452" "00024106" "90" "2802" "0" "2802" "0" "c.2802dup" "r.(?)" "p.(Gly935Trpfs*8)" "33" "0000151454" "00024106" "90" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000151455" "00024106" "90" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000151456" "00024106" "90" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000151457" "00024106" "90" "1739" "0" "1948" "98" "c.1739_1948+98del" "r.del" "p.?" "24_25i" "0000151458" "00024106" "90" "3605" "-1" "5077" "0" "c.(3604+1_3605-1)_(*1_?)del" "r.(?)" "p.(?)" "40i_53_" "0000151459" "00024106" "90" "3605" "-1" "5077" "0" "c.(3604+1_3605-1)_(*1_?)del" "r.(?)" "p.(?)" "40i_53_" "0000151460" "00024106" "90" "4707" "-1" "5077" "0" "c.(4706+1_4707-1)_(*1_?)del" "r.(?)" "p.(?)" "50i_53_" "0000151461" "00024106" "90" "3374" "-1" "5077" "0" "c.(3373+1_3374-1)_(*1_?)dup" "r.(?)" "p.(?)" "37i_53_" "0000151462" "00024106" "90" "3374" "-1" "5077" "0" "c.(3373+1_3374-1)_(*1_?)dup" "r.(?)" "p.(?)" "37i_53_" "0000151463" "00024106" "10" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(=)" "19" "0000151464" "00024106" "10" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(=)" "19" "0000151465" "00024106" "10" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(=)" "19" "0000151466" "00024106" "10" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(=)" "19" "0000151467" "00024106" "90" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Asp)" "20" "0000151468" "00024106" "90" "1331" "0" "1331" "0" "c.1331T>G" "r.(?)" "p.(Ile444Ser)" "20" "0000151469" "00024106" "90" "1331" "0" "1331" "0" "c.1331T>G" "r.(?)" "p.(Ile444Ser)" "20" "0000151470" "00024106" "90" "1331" "0" "1331" "0" "c.1331T>G" "r.(?)" "p.(Ile444Ser)" "20" "0000151471" "00024106" "90" "1992" "0" "1992" "0" "c.1992G>T" "r.(?)" "p.(Lys664Asn)" "26" "0000151472" "00024106" "10" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(=)" "27" "0000151473" "00024106" "10" "2349" "0" "2349" "0" "c.2349G>A" "r.(?)" "p.(=)" "29" "0000151474" "00024106" "10" "3513" "0" "3513" "0" "c.3513A>G" "r.(?)" "p.(=)" "39" "0000151475" "00024106" "10" "3513" "0" "3513" "0" "c.3513A>G" "r.(?)" "p.(=)" "39" "0000151476" "00024106" "10" "3513" "0" "3513" "0" "c.3513A>G" "r.(?)" "p.(=)" "39" "0000151477" "00024106" "10" "3513" "0" "3513" "0" "c.3513A>G" "r.(?)" "p.(=)" "39" "0000151478" "00024106" "10" "4293" "0" "4293" "0" "c.4293C>T" "r.(?)" "p.(=)" "48" "0000151479" "00024106" "10" "4293" "0" "4293" "0" "c.4293C>T" "r.(?)" "p.(=)" "48" "0000151480" "00024106" "10" "4293" "0" "4293" "0" "c.4293C>T" "r.(?)" "p.(=)" "48" "0000151481" "00024106" "10" "609" "21" "609" "21" "c.609+21T>C" "r.(?)" "p.(=)" "10i" "0000151482" "00024106" "10" "609" "21" "609" "21" "c.609+21T>C" "r.(?)" "p.(=)" "10i" "0000151483" "00024106" "10" "609" "21" "609" "21" "c.609+21T>C" "r.(?)" "p.(=)" "10i" "0000151484" "00024106" "90" "1581" "0" "1587" "9" "c.1581_1587+9del" "r.spl" "p.?" "23_23i" "0000151485" "00024106" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "0000151486" "00024106" "90" "82" "-1" "5077" "0" "c.(81+1_82-1)_(*1_?)del" "r.del" "p.(?)" "1i_51i" "0000151487" "00024106" "50" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Gln22*)" "1" "0000151488" "00024106" "50" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Gly198Glu)" "10" "0000151489" "00024106" "50" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Gly213Glu)" "11" "0000151490" "00024106" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Arg)" "16" "0000151491" "00024106" "50" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Gly313Ser)" "17" "0000151492" "00024106" "50" "956" "0" "956" "0" "c.956G>A" "r.(?)" "p.(Gly319Asp)" "17" "0000151493" "00024106" "50" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Gly521Asp)" "23" "0000151494" "00024106" "50" "1997" "0" "1997" "0" "c.1997G>A" "r.(?)" "p.(Gly666Asp)" "26" "0000151495" "00024106" "50" "2087" "0" "2087" "0" "c.2087G>A" "r.(?)" "p.(Gly696Asp)" "27" "0000151496" "00024106" "50" "2360" "0" "2360" "0" "c.2360G>T" "r.(?)" "p.(Gly787Val)" "29" "0000151497" "00024106" "50" "2005" "0" "2005" "0" "c.2005G>C" "r.(?)" "p.(Gly669Arg)" "26" "0000151498" "00024106" "50" "2746" "0" "2746" "0" "c.2746A>G" "r.(?)" "p.(Ser916Gly)" "32" "0000151499" "00024106" "50" "2788" "0" "2788" "0" "c.2788C>T" "r.2788c>u" "p.Gln930*" "33" "0000151500" "00024106" "50" "2999" "0" "2999" "0" "c.2999G>T" "r.(?)" "p.(Gly1000Val)" "34" "0000151501" "00024106" "50" "3080" "0" "3080" "0" "c.3080G>T" "r.3080g>u" "p.Gly1027Val" "35" "0000151502" "00024106" "50" "3694" "0" "3694" "0" "c.3694G>A" "r.3694g>a" "p.Gly1232Ser" "41" "0000151503" "00024106" "50" "3958" "0" "3958" "0" "c.3958C>T" "r.(?)" "p.(Pro1320Ser)" "45" "0000151504" "00024106" "50" "4360" "0" "4360" "0" "c.4360G>A" "r.4360g>a" "p.Gly1454Ser" "49" "0000151505" "00024106" "50" "4343" "0" "4343" "0" "c.4343G>C" "r.(?)" "p.(Gly1448Ala)" "49" "0000151506" "00024106" "50" "4342" "0" "4342" "0" "c.4342G>C" "r.(?)" "p.(Gly1448Arg)" "49" "0000151507" "00024106" "50" "4775" "0" "4775" "0" "c.4775G>T" "r.4775g>u" "p.Cys1592Phe" "51" "0000151508" "00024106" "50" "5023" "0" "5023" "0" "c.5023G>A" "r.(?)" "p.(Gly1675Arg)" "53" "0000151509" "00024106" "50" "4931" "0" "4931" "0" "c.4931G>A" "r.(?)" "p.(Cys1644Tyr)" "52" "0000151510" "00024106" "50" "4994" "0" "4994" "0" "c.4994G>A" "r.spl?" "p.(Ser1665Asn)" "52" "0000151511" "00024106" "90" "3710" "0" "3761" "0" "c.3710_3761del" "r.(?)" "p.(Pro1237Leufs*51)" "41" "0000151512" "00024106" "90" "529" "0" "529" "0" "c.529G>T" "r.(?)" "p.(Gly177Cys)" "9" "0000151513" "00024106" "90" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Gly204Asp)" "11" "0000151514" "00024106" "90" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Gly307Asp)" "16" "0000151515" "00024106" "90" "1001" "0" "1001" "0" "c.1001G>T" "r.(?)" "p.(Gly334Val)" "18" "0000151516" "00024106" "90" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Asp)" "20" "0000151517" "00024106" "30" "1331" "0" "1331" "0" "c.1331T>G" "r.1331u>g" "p.Ile444Ser" "20" "0000151518" "00024106" "90" "1690" "0" "1690" "0" "c.1690G>C" "r.(?)" "p.(Gly564Arg)" "24" "0000151519" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "25" "0000151520" "00024106" "90" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Glu)" "24" "0000151521" "00024106" "90" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Gly548Asp)" "24" "0000151522" "00024106" "50" "2005" "0" "2005" "0" "c.2005G>C" "r.(?)" "p.(Gly669Arg)" "26" "0000151523" "00024106" "50" "2005" "0" "2005" "0" "c.2005G>C" "r.2005g>c" "p.Gly669Arg" "26" "0000151524" "00024106" "90" "2098" "0" "2098" "0" "c.2098G>T" "r.(?)" "p.(Glu700*)" "27" "0000151525" "00024106" "90" "2107" "0" "2107" "0" "c.2107A>G" "r.2107a>g" "p.Ile703Val" "27" "0000151526" "00024106" "90" "2155" "0" "2155" "0" "c.2155G>A" "r.(?)" "p.(Gly719Arg)" "28" "0000151527" "00024106" "90" "2288" "0" "2288" "0" "c.2288G>A" "r.(?)" "p.(Gly763Glu)" "29" "0000151528" "00024106" "90" "2431" "0" "2431" "0" "c.2431G>A" "r.(?)" "p.(Gly811Arg)" "30" "0000151529" "00024106" "90" "2555" "0" "2555" "0" "c.2555G>T" "r.(?)" "p.(Gly852Val)" "31" "0000151530" "00024106" "10" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(=)" "19" "0000151531" "00024106" "90" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Pro445Ser)" "20" "0000151532" "00024106" "90" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Pro445Ser)" "20" "0000151533" "00024106" "30" "1191" "0" "1191" "0" "c.1191C>G" "r.1191c>g" "p.=" "20" "0000151534" "00024106" "10" "2349" "0" "2349" "0" "c.2349G>A" "r.(?)" "p.(=)" "29" "0000151535" "00024106" "10" "2349" "0" "2349" "0" "c.2349G>A" "r.(?)" "p.(=)" "29" "0000151536" "00024106" "10" "2349" "0" "2349" "0" "c.2349G>A" "r.(?)" "p.(=)" "29" "0000151537" "00024106" "30" "2055" "0" "2055" "0" "c.2055T>C" "r.2055c>u" "p.=" "27" "0000151538" "00024106" "10" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(=)" "27" "0000151539" "00024106" "10" "2115" "0" "2115" "0" "c.2115A>G" "r.(?)" "p.(=)" "27" "0000151540" "00024106" "10" "4293" "0" "4293" "0" "c.4293C>T" "r.(?)" "p.(=)" "48" "0000151541" "00024106" "10" "4293" "0" "4293" "0" "c.4293C>T" "r.(?)" "p.(=)" "48" "0000151542" "00024106" "30" "3912" "0" "3912" "0" "c.3912G>A" "r.(?)" "p.(Leu1304=)" "44" "0000151543" "00024106" "90" "4693" "0" "4693" "0" "c.4693C>G" "r.(?)" "p.(Pro1565Ala)" "50" "0000151544" "00024106" "30" "2858" "0" "2858" "0" "c.2858G>T" "r.2858g>u" "p.Gly953Val" "33" "0000151545" "00024106" "90" "4195" "0" "4195" "0" "c.4195dup" "r.(?)" "p.(Gln1399Profs*25)" "47" "0000151546" "00024106" "90" "3454" "1" "3454" "1" "c.3454+1G>C" "r.spl" "p.?" "38i" "0000151547" "00024106" "90" "81" "1" "81" "1" "c.81+1G>T" "r.(?)" "p.(=)" "1i" "0000151548" "00024106" "90" "232" "-3" "232" "-3" "c.232-3C>A" "r.(?)" "p.(?)" "3i" "0000151549" "00024106" "90" "276" "5" "276" "5" "c.276+5G>A" "r.(?)" "p.(?)" "4i" "0000151550" "00024106" "90" "385" "-97" "385" "-97" "c.385-97G>A" "r.(?)" "p.(?)" "6i" "0000151551" "00024106" "51" "438" "36" "438" "36" "c.438+36G>T" "r.(?)" "p.(?)" "7i" "0000151552" "00024106" "90" "466" "-17" "466" "-17" "c.466-17T>G" "r.(?)" "p.(?)" "8i" "0000151553" "00024106" "90" "466" "-12" "466" "-12" "c.466-12G>A" "r.[465_466ins466-10_466-1, 466_546del]" "p.(=)" "8i" "0000151554" "00024106" "90" "646" "-12" "646" "-11" "c.646-12_646-11del" "r.646_687del" "p.(=)" "11i" "0000151555" "00024106" "90" "780" "2" "780" "2" "c.780+2T>G" "r.688_780del" "p.?" "13i" "0000151556" "00024106" "90" "834" "5" "834" "5" "c.834+5G>T" "r.781_834del" "p.?" "14i" "0000151557" "00024106" "90" "937" "-1" "937" "-1" "c.937-1G>A" "r.spl" "p.?" "16i" "0000151558" "00024106" "90" "1032" "25" "1032" "25" "c.1032+25G>A" "r.(?)" "p.(?)" "18i" "0000151559" "00024106" "90" "1033" "-5" "1033" "-5" "c.1033-5G>T" "r.(?)" "p.(?)" "18i" "0000151560" "00024106" "90" "1423" "57" "1423" "57" "c.1423+57dup" "r.[=. 1388_1423del]" "p.(?)" "21i" "0000151561" "00024106" "90" "1424" "-1" "1424" "-1" "c.1424-1G>A" "r.1424_1516del" "p.?" "21i" "0000151562" "00024106" "90" "1424" "-20" "1424" "-20" "c.1424-20T>A" "r.(?)" "p.(?)" "21i" "0000151563" "00024106" "90" "1516" "1" "1516" "1" "c.1516+1G>A" "r.1424_1516delins?" "p.?" "22i" "0000151564" "00024106" "90" "1517" "-1" "1517" "-1" "c.1517-1G>T" "r.(?)" "p.(?)" "22i" "0000151565" "00024106" "90" "1780" "-1" "1780" "-1" "c.1780-1G>A" "r.(?)" "p.(?)" "24i" "0000151566" "00024106" "90" "1948" "1" "1948" "1" "c.1948+1G>T" "r.(?)" "p.(?)" "25i" "0000151567" "00024106" "90" "2042" "-18" "2042" "-18" "c.2042-18A>G" "r.(?)" "p.(?)" "26i" "0000151568" "00024106" "90" "2146" "3" "2146" "3" "c.2146+3A>C" "r.(?)" "p.(?)" "27i" "0000151569" "00024106" "90" "2147" "-2" "2147" "-2" "c.2147-2A>G" "r.(?)" "p.(?)" "27i" "0000151570" "00024106" "90" "2244" "2" "2244" "2" "c.2244+2T>C" "r.(?)" "p.(?)" "28i" "0000151571" "00024106" "90" "2767" "2" "2767" "2" "c.2767+2del" "r.2678_2767del" "p.?" "32i" "0000151572" "00024106" "90" "3106" "7" "3106" "18" "c.3106+7_3106+18del" "r.(=)" "p.(=)" "35i" "0000151573" "00024106" "90" "3106" "4" "3106" "4" "c.3106+4del" "r.(?)" "p.(?)" "35i" "0000151574" "00024106" "90" "3554" "-45" "3554" "-45" "c.3554-45T>C" "r.(?)" "p.(?)" "39i" "0000151575" "00024106" "90" "3604" "3" "3604" "3" "c.3604+3T>A" "r.(?)" "p.(?)" "40i" "0000151576" "00024106" "90" "3943" "-2" "3943" "-2" "c.3943-2A>G" "r.spl" "p.?" "44i" "0000151577" "00024106" "90" "4016" "-1" "4016" "-1" "c.4016-1G>A" "r.4016_4087del" "p.?" "45i" "0000151578" "00024106" "90" "4016" "-2" "4016" "-2" "c.4016-2A>T" "r.spl" "p.?" "45i" "0000151579" "00024106" "90" "4217" "-1" "4217" "-1" "c.4217-1G>A" "r.spl" "p.?" "47i" "0000151580" "00024106" "90" "4315" "1" "4315" "1" "c.4315+1G>A" "r.4298_4315del" "p.?" "48i" "0000151581" "00024106" "90" "4707" "-36" "4707" "-36" "c.4707-36C>A" "r.(?)" "p.(?)" "50i" "0000151582" "00024106" "90" "4821" "121" "4821" "121" "c.4821+121T>C" "r.(?)" "p.(?)" "51i" "0000151583" "00024106" "90" "4822" "-152" "4822" "-152" "c.4822-152dup" "r.(?)" "p.(?)" "51i" "0000151584" "00024106" "90" "3044" "0" "3044" "0" "c.3044G>T" "r.3044g>u" "p.Gly1015Val" "35" "0000151585" "00024106" "90" "3088" "0" "3088" "0" "c.3088G>A" "r.3080g>a" "p.Gly1030Ser" "35" "0000151587" "00024106" "90" "3508" "0" "3508" "0" "c.3508G>A" "r.(?)" "p.(Gly1170Ser)" "39" "0000151588" "00024106" "90" "4964" "0" "4964" "0" "c.4964T>G" "r.(?)" "p.(Leu1655Arg)" "52" "0000151589" "00024106" "90" "5047" "0" "5047" "0" "c.5047C>T" "r.(?)" "p.(Arg1683*)" "53" "0000151590" "00024106" "90" "5048" "0" "5048" "0" "c.5048G>A" "r.(?)" "p.(Arg1683Gln)" "53" "0000151592" "00024106" "90" "4087" "0" "4087" "0" "c.4087G>A" "r.spl?" "p.(Gly1363Ser)" "46" "0000151593" "00024106" "90" "3256" "0" "3256" "0" "c.3256G>C" "r.(?)" "p.(Gly1086Arg)" "37" "0000151594" "00024106" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Gln1234*)" "41" "0000151595" "00024106" "90" "4706" "0" "4706" "0" "c.4706G>A" "r.spl?" "p.(Arg1569Gln)" "50" "0000151596" "00024106" "90" "4706" "0" "4706" "0" "c.4706G>A" "r.spl?" "p.(Arg1569Gln)" "50" "0000151597" "00024106" "90" "4706" "0" "4706" "0" "c.4706G>A" "r.spl?" "p.(Arg1569Gln)" "50" "0000151598" "00024106" "90" "4708" "0" "4708" "0" "c.4708T>C" "r.(?)" "p.(Cys1570Arg)" "51" "0000151599" "00024106" "90" "4720" "0" "4720" "0" "c.4720G>C" "r.(?)" "p.(Glu1574Gln)" "51" "0000151600" "00024106" "90" "4769" "0" "4769" "0" "c.4769C>T" "r.(?)" "p.(Pro1590Leu)" "51" "0000151601" "00024106" "90" "4784" "0" "4784" "0" "c.4784G>T" "r.(?)" "p.(Gly1595Val)" "51" "0000151602" "00024106" "90" "4786" "0" "4786" "0" "c.4786T>G" "r.(?)" "p.(Trp1596Gly)" "51" "0000151603" "00024106" "90" "4808" "0" "4808" "0" "c.4808A>G" "r.(?)" "p.(Tyr1603Cys)" "51" "0000151604" "00024106" "90" "4931" "0" "4931" "0" "c.4931G>A" "r.(?)" "p.(Cys1644Tyr)" "52" "0000151605" "00024106" "90" "5038" "0" "5038" "0" "c.5038C>T" "r.(?)" "p.(Arg1680*)" "53" "0000151606" "00024106" "90" "5050" "0" "5050" "0" "c.5050T>C" "r.(?)" "p.(Cys1684Arg)" "53" "0000151607" "00024106" "90" "5060" "0" "5060" "0" "c.5060G>T" "r.5060g>u" "p.Cys1687Phe" "53" "0000151608" "00024106" "90" "5060" "0" "5060" "0" "c.5060G>A" "r.(?)" "p.(Cys1687Tyr)" "53" "0000151609" "00024106" "90" "2" "0" "3" "0" "c.2_3del" "r.(?)" "p.0?" "1" "0000151610" "00024106" "90" "49" "0" "50" "0" "c.49_50del" "r.(?)" "p.(Leu17Glufs*22)" "1" "0000151611" "00024106" "90" "119" "0" "119" "0" "c.119del" "r.(?)" "p.(Cys40Serfs*4)" "2" "0000151612" "00024106" "90" "368" "0" "368" "0" "c.368del" "r.(?)" "p.(Gly123Aspfs*32)" "6" "0000151613" "00024106" "90" "812" "0" "812" "0" "c.812del" "r.(?)" "p.(Pro271Leufs*75)" "14" "0000151614" "00024106" "90" "1254" "0" "1254" "0" "c.1254del" "r.(?)" "p.(Pro419Leufs*55)" "20" "0000151615" "00024106" "90" "1653" "0" "1653" "0" "c.1653del" "r.1653del" "p.Thr552Leufs*5" "24" "0000151616" "00024106" "90" "2039" "0" "2039" "0" "c.2039del" "r.(?)" "p.(Pro680Glnfs*56)" "26" "0000151617" "00024106" "90" "2057" "0" "2057" "0" "c.2057del" "r.(?)" "p.(Pro686Glnfs*50)" "27" "0000151618" "00024106" "90" "2477" "0" "2477" "0" "c.2477del" "r.(?)" "p.(Pro826Hisfs*8)" "30" "0000151619" "00024106" "90" "2510" "0" "2510" "0" "c.2510del" "r.(?)" "p.(Gly837Valfs*38)" "31" "0000151620" "00024106" "90" "2644" "0" "2644" "0" "c.2644del" "r.(?)" "p.(Leu882Phefs*19)" "31" "0000151621" "00024106" "90" "2696" "0" "2705" "0" "c.2696_2705del" "r.(?)" "p.(Gly899Aspfs*94)" "32" "0000151622" "00024106" "90" "3413" "0" "3413" "0" "c.3413del" "r.(?)" "p.(Pro1138Leufs*14)" "38" "0000151623" "00024106" "90" "4195" "0" "4195" "0" "c.4195del" "r.(?)" "p.(Gln1399Lysfs*155)" "47" "0000151624" "00024106" "90" "4367" "0" "4367" "0" "c.4367del" "r.(?)" "p.(Pro1456Glnfs*98)" "49" "0000151625" "00024106" "90" "38" "0" "41" "0" "c.38_41dup" "r.(?)" "p.(Leu14Phefs*27)" "1" "0000151626" "00024106" "90" "446" "0" "446" "0" "c.446dup" "r.(?)" "p.(Gly150Trpfs*8)" "8" "0000151627" "00024106" "90" "648" "0" "648" "0" "c.648dup" "r.(?)" "p.(Asn217Glufs*12)" "12" "0000151628" "00024106" "90" "647" "0" "648" "0" "c.647_648dup" "r.(?)" "p.(Asn217Glyfs*5)" "12" "0000151629" "00024106" "90" "1213" "0" "1213" "0" "c.1213dup" "r.(?)" "p.(Arg405Lysfs*6)" "20" "0000151630" "00024106" "90" "1288" "0" "1288" "0" "c.1288dup" "r.1288dup" "p.Ala430Glyfs*18" "20" "0000151631" "00024106" "90" "2708" "0" "2708" "0" "c.2708dup" "r.(?)" "p.(Pro904Serfs*19)" "32" "0000151632" "00024106" "90" "3884" "0" "3887" "0" "c.3884_3887dup" "r.(?)" "p.(Gly1297Thrfs*21)" "44" "0000151633" "00024106" "90" "4814" "0" "4821" "2" "c.4814_4821+2dup" "r.spl" "p.?" "51" "0000151634" "00024106" "90" "4532" "0" "4547" "0" "c.4532_4547delinsTTTCATC" "r.(?)" "p.(Thr1511_Leu1516delinsIleSerSer)" "50" "0000151635" "00024106" "90" "351" "0" "359" "0" "c.351_359del" "r.(?)" "p.(Pro118_Gly120del)" "6" "0000151636" "00024106" "90" "2062" "0" "2114" "0" "c.2062_2114dup" "r.2042_2146del" "p.(Ile706AsnfsTer48)" "27" "0000151637" "00024106" "90" "2207" "0" "2227" "0" "c.2207_2227del" "r.(?)" "p.(Glu736_Pro742del)" "28" "0000151638" "00024106" "90" "2509" "0" "2509" "0" "c.2509G>A" "r.[2509g>a;2509_2510ins2510-1437]" "p.(Gly837Ser)" "30" "0000151639" "00024106" "90" "2595" "0" "2612" "0" "c.2595_2612del" "r.(?)" "p.(Ile867_Gly872del)" "31" "0000151640" "00024106" "90" "4347" "0" "4373" "0" "c.4347_4373del" "r.(?)" "p.(Asp1450_Pro1458del)" "49" "0000151641" "00024106" "90" "466" "-1" "5077" "0" "c.(465+1_466-1)_(*1_?)inv" "r.?" "p.?" "8i_53_" "0000151642" "00024106" "90" "-1" "0" "5077" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_53_" "0000151643" "00024106" "90" "82" "-1" "5077" "0" "c.(81+1_82-1)_(*1_?)del" "r.(del)" "p.?" "1i_53_" "0000151644" "00024106" "90" "232" "-1" "5077" "0" "c.(231+1_232-1)_(*1_?)del" "r.(?)" "p.(?)" "3i_53_" "0000151645" "00024106" "90" "1166" "-1" "1423" "1" "c.(1165+1_1166-1)_(1423+1_1424-1)del" "r.(?)" "p.(?)" "19i_21i" "0000151646" "00024106" "90" "1166" "-1" "1516" "1" "c.(1165+1_1166-1)_(1516+1_1517-1)del" "E20_E22del" "p.(?)" "19i_22i" "0000151647" "00024106" "90" "1949" "-1" "3373" "1" "c.(1948+1_1949-1)_(3373+1_3374-1)del" "E26_E37del" "p.(?)" "25i_37i" "0000151648" "00024106" "90" "2510" "-1" "3246" "1" "c.(2509+1_2510-1)_(3246+1_3247-1)del" "E31_E36del" "p.(?)" "30i_36i" "0000151649" "00024106" "90" "3017" "-1" "3246" "1" "c.(3016+1_3017-1)_(3246+1_3247-1)del" "E35_E36del" "p.(?)" "34i_36i" "0000151650" "00024106" "90" "3247" "-1" "5077" "0" "c.(3246+1_3247-1)_(*1_?)del" "r.(?)" "p.(?)" "36i_53_" "0000151651" "00024106" "90" "3374" "-1" "5077" "0" "c.(3373+1_3374-1)_(*1_?)del" "r.(?)" "p.(?)" "37i_53_" "0000151652" "00024106" "90" "3943" "-1" "5077" "0" "c.(3942+1_3943-1)_(*1_?)del" "r.(?)" "p.(?)" "44i_53_" "0000151653" "00024106" "90" "4217" "-1" "5077" "0" "c.(4216+1_4217-1)_(*1_?)del" "E48_53del" "p.(?)" "47i_53_" "0000151654" "00024106" "90" "4316" "-1" "5077" "0" "c.(4315+1_4316-1)_(*1_?)del" "r.(?)" "p.(?)" "48i_53_" "0000151655" "00024106" "90" "4529" "-1" "5077" "0" "c.(4528+1_4529-1)_(*1_?)del" "r.(?)" "p.(?)" "49i_53_" "0000151656" "00024106" "90" "3247" "-1" "3373" "1" "c.(3246+1_3247-1)_(3373+1_3374-1)del" "r.(?)" "p.(?)" "36i_37i" "0000151657" "00024106" "90" "609" "21" "609" "21" "c.609+21T>C" "r.(?)" "p.(?)" "10i" "0000151658" "00024106" "90" "82" "-1" "3246" "1" "c.(81+1_82-1)_(3246+1_3247-1)del" "r.(?)" "p.(?)" "1i_36i" "0000151659" "00024106" "97" "4705" "0" "4706" "2" "c.4705_4706+2del" "r.spl?" "p.?" "50" "0000151660" "00024106" "97" "3791" "-1" "4528" "1" "c.(3790+1_3791-1)_(4528+1_4529-1)del" "r.(?)" "p.(?)" "41i_49i" "0000151661" "00024106" "90" "2394" "0" "2394" "0" "c.2394A>G" "r.(?)" "p.(=)" "29" "0000151662" "00024106" "70" "2500" "0" "2500" "0" "c.2500G>C" "r.(?)" "p.(Gly834Arg)" "30" "0000151663" "00024106" "97" "4189" "0" "4189" "0" "c.4189G>T" "r.(?)" "p.(Gly1397*)" "47" "0000151664" "00024106" "70" "385" "0" "385" "0" "c.385G>C" "r.(?)" "p.(Gly129Arg)" "7" "0000151665" "00024106" "97" "2782" "0" "2782" "0" "c.2782C>T" "r.(?)" "p.(Gln928*)" "33" "0000151666" "00024106" "97" "286" "0" "286" "0" "c.286G>C" "r.spl?" "p.(Gly96Arg)" "5" "0000151667" "00024106" "97" "3326" "0" "3327" "0" "c.3326_3327insT" "r.(?)" "p.(Gly1110Argfs*27)" "37" "0000151668" "00024106" "50" "3206" "0" "3206" "0" "c.3206G>T" "r.(?)" "p.(Gly1069Val)" "36" "0000151669" "00024106" "97" "4195" "0" "4195" "0" "c.4195del" "r.(?)" "p.(Gln1399Lysfs*155)" "47" "0000151670" "00024106" "97" "866" "0" "866" "0" "c.866del" "r.(?)" "p.(Gly289Valfs*57)" "15" "0000151671" "00024106" "97" "4531" "0" "4531" "0" "c.4531del" "r.(?)" "p.(Thr1511Argfs*43)" "49" "0000151672" "00024106" "97" "2678" "0" "2678" "0" "c.2678G>T" "r.(?)" "p.(Gly893Val)" "32" "0000151673" "00024106" "90" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Gly230Asp)" "13" "0000151674" "00024106" "97" "3722" "0" "3722" "0" "c.3722G>T" "r.(?)" "p.(Gly1241Val)" "41" "0000151675" "00024106" "70" "1779" "3" "1779" "3" "c.1779+3G>C" "r.(?)" "p.(?)" "24i" "0000151676" "00024106" "97" "1294" "0" "1294" "0" "c.1294G>C" "r.(?)" "p.(Gly432Arg)" "20" "0000151677" "00024106" "50" "3347" "0" "3347" "0" "c.3347G>T" "r.(?)" "p.(Gly1116Val)" "37" "0000151678" "00024106" "90" "3613" "0" "3613" "0" "c.3613G>A" "r.(?)" "p.(Gly1205Ser)" "41" "0000151679" "00024106" "90" "3587" "0" "3587" "0" "c.3587G>A" "r.(?)" "p.(Gly1196Glu)" "40" "0000151680" "00024106" "90" "82" "-1" "141" "1" "c.(81+1_82-1)_(141+1_142-1)del" "r.del" "p.(?)" "1i_2i" "0000151681" "00024106" "90" "2476" "0" "2484" "0" "c.2476_2484del" "r.(?)" "p.(Pro826_Gly828del)" "30" "0000151682" "00024106" "90" "4912" "0" "4912" "0" "c.4912T>A" "r.(?)" "p.(Cys1638Ser)" "52" "0000151683" "00024106" "90" "431" "0" "431" "0" "c.431G>A" "r.(?)" "p.(Gly144Asp)" "7" "0000151684" "00024106" "90" "2659" "0" "2659" "0" "c.2659G>A" "r.(?)" "p.(Gly887Ser)" "31" "0000151685" "00024106" "97" "2578" "0" "2578" "0" "c.2578G>C" "r.(?)" "p.(Gly860Arg)" "31" "0000151686" "00024106" "97" "2687" "0" "2687" "0" "c.2687del" "r.(?)" "p.(Gly896Valfs*5)" "32" "0000151687" "00024106" "97" "293" "0" "293" "0" "c.293del" "r.(?)" "p.(Pro98Leufs*57)" "5" "0000151688" "00024106" "90" "2476" "0" "2484" "0" "c.2476_2484del" "r.(?)" "p.(Pro826_Gly828del)" "30" "0000151689" "00024106" "97" "142" "-1" "231" "1" "c.(141+1_142-1)_(231+1_232-1)del" "r.(?)" "p.(?)" "2i_3i" "0000151690" "00024106" "97" "3942" "0" "3942" "0" "c.3942G>C" "r.spl?" "p.(Gln1314His)" "44" "0000151691" "00024106" "97" "2315" "0" "2315" "0" "c.2315G>C" "r.(?)" "p.(Gly772Ala)" "29" "0000151692" "00024106" "70" "3403" "0" "3418" "0" "c.3403_3418delinsCCA" "r.(?)" "p.(Ile1135Profs*13)" "38" "0000151693" "00024106" "97" "873" "0" "873" "0" "c.873del" "r.(?)" "p.(Gly292Glufs*54)" "15" "0000151694" "00024106" "90" "2476" "0" "2484" "0" "c.2476_2484del" "r.(?)" "p.(Pro826_Gly828del)" "30" "0000151695" "00024106" "97" "438" "5" "438" "5" "c.438+5G>A" "r.(?)" "p.(?)" "7i" "0000151696" "00024106" "70" "1222" "0" "1222" "0" "c.1222A>T" "r.(?)" "p.(Lys408*)" "20" "0000151697" "00024106" "70" "3373" "1" "3373" "1" "c.3373+1G>A" "r.spl" "p.?" "37i" "0000151698" "00024106" "97" "3692" "0" "3692" "0" "c.3692dup" "r.(?)" "p.(Gly1232Trpfs*20)" "41" "0000151699" "00024106" "97" "3167" "0" "3167" "0" "c.3167del" "r.(?)" "p.(Pro1056Glnfs*96)" "36" "0000151700" "00024106" "90" "1726" "0" "1726" "0" "c.1726G>A" "r.(?)" "p.(Gly576Ser)" "24" "0000151701" "00024106" "97" "142" "-1" "231" "1" "c.(141+1_142-1)_(231+1_232-1)del" "r.(?)" "p.(?)" "2i_3i" "0000151702" "00024106" "70" "2244" "1" "2244" "1" "c.2244+1G>T" "r.(?)" "p.(?)" "28i" "0000151703" "00024106" "97" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Gly475Ser)" "21" "0000151704" "00024106" "97" "1060" "0" "1060" "0" "c.1060dup" "r.(?)" "p.(Thr354Asnfs*57)" "19" "0000151705" "00024106" "97" "1758" "0" "1769" "0" "c.1758_1769del" "r.(?)" "p.(Pro587_Lys590del)" "24" "0000151706" "00024106" "70" "4707" "-31" "4707" "-9" "c.4707-31_4707-9delinsCA" "r.(?)" "p.(?)" "50i" "0000151707" "00024106" "90" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Gly153Asp)" "8" "0000151708" "00024106" "97" "611" "0" "612" "0" "c.611_612del" "r.(?)" "p.(Gly204Alafs*11)" "11" "0000151709" "00024106" "97" "1376" "0" "1376" "0" "c.1376dup" "r.(?)" "p.(Gly460Argfs*5)" "21" "0000151710" "00024106" "97" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Gly362Arg)" "19" "0000151711" "00024106" "97" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(Gln580*)" "24" "0000151712" "00024106" "97" "875" "0" "875" "0" "c.875del" "r.(?)" "p.(Gly292Glufs*54)" "15" "0000151713" "00024106" "70" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Gly558Asp)" "24" "0000151714" "00024106" "97" "544" "0" "546" "4" "c.544_546+4del" "r.spl" "p.?" "9_9i" "0000151715" "00024106" "97" "2510" "-1" "2677" "1" "c.(2509+1_2510-1)_(2677+1_2678-1)del" "r.?" "p.?" "30i_31i" "0000151716" "00024106" "97" "1181" "0" "1181" "0" "c.1181del" "r.(?)" "p.(Gly394Valfs*80)" "20" "0000151717" "00024106" "97" "538" "0" "538" "0" "c.538G>C" "r.(?)" "p.(Gly180Arg)" "9" "0000151718" "00024106" "97" "2678" "-1" "3246" "1" "c.(2677+1_2678-1)_(3246+1_3247-1)del" "r.(?)" "p.(?)" "31i_36i" "0000151719" "00024106" "97" "65" "0" "77" "0" "c.65_77del" "r.(?)" "p.(Gln22Leufs*18)" "1" "0000151720" "00024106" "77" "142" "-1" "2677" "1" "c.(141+1_142-1)_(2677+1_2678-1)del" "r.(?)" "p.(?)" "2i_31i" "0000151721" "00024106" "97" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Gly216Glu)" "12" "0000151722" "00024106" "77" "3706" "0" "3722" "0" "c.3706_3722delinsTTC" "r.(?)" "p.(Pro1236Phefs*11)" "41" "0000151723" "00024106" "97" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Gly475Ser)" "21" "0000151724" "00024106" "99" "892" "-1" "1423" "1" "c.(780+1_892-1)_(1423+1_1424-1)del" "r.del" "p.(?)" "13i_21i" "0000151725" "00024106" "70" "2731" "0" "2731" "0" "c.2731G>C" "r.(?)" "p.(Gly911Arg)" "32" "0000151726" "00024106" "70" "2305" "0" "2305" "0" "c.2305G>C" "r.(?)" "p.(Gly769Arg)" "29" "0000151727" "00024106" "97" "81" "1" "81" "1" "c.81+1G>C" "r.(?)" "p.(=)" "1i" "0000151728" "00024106" "10" "438" "36" "438" "36" "c.438+36G>T" "r.(?)" "p.(?)" "7i" "0000151729" "00024106" "10" "439" "-7" "439" "-7" "c.439-7A>G" "r.(?)" "p.(?)" "7i" "0000151730" "00024106" "30" "580" "0" "580" "0" "c.580A>G" "r.(?)" "p.(Ile194Val)" "10" "0000151731" "00024106" "50" "991" "-7" "991" "-7" "c.991-7T>A" "r.spl?" "p.(=)" "17i" "0000151732" "00024106" "10" "1033" "-10" "1033" "-10" "c.1033-10G>A" "r.(?)" "p.(?)" "18i" "0000151733" "00024106" "70" "1779" "3" "1779" "3" "c.1779+3G>C" "r.(?)" "p.(?)" "24i" "0000151734" "00024106" "70" "2678" "-3" "2678" "-3" "c.2678-3A>G" "r.(?)" "p.(?)" "31i" "0000151735" "00024106" "30" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Gly1057Glu)" "36" "0000151736" "00024106" "70" "757" "0" "757" "0" "c.757G>A" "r.(?)" "p.(Val253Ile)" "13" "0000151737" "00024106" "70" "786" "0" "787" "0" "c.786_787insA" "r.(?)" "p.(Pro263Thrfs*3)" "14" "0000151738" "00024106" "30" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(=)" "15" "0000151739" "00024106" "70" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Pro324Ser)" "17" "0000151740" "00024106" "70" "1187" "0" "1187" "0" "c.1187C>T" "r.(?)" "p.(Pro396Leu)" "20" "0000151741" "00024106" "70" "1567" "0" "1567" "0" "c.1567del" "r.(?)" "p.(Thr523Leufs*34)" "23" "0000151742" "00024106" "50" "1913" "0" "1913" "0" "c.1913G>A" "r.(?)" "p.(Gly638Asp)" "25" "0000151743" "00024106" "50" "1997" "0" "1997" "0" "c.1997G>T" "r.(?)" "p.(Gly666Val)" "26" "0000151744" "00024106" "70" "2062" "0" "2114" "0" "c.2062_2114dup" "r.(?)" "p.(Ile706Asnfs*48)" "27" "0000151745" "00024106" "90" "2464" "0" "2464" "0" "c.2464G>C" "r.(?)" "p.(Gly822Arg)" "30" "0000151746" "00024106" "90" "2509" "0" "2509" "0" "c.2509G>A" "r.(?)" "p.(Gly837Ser)" "30" "0000151748" "00024106" "50" "2979" "0" "2979" "0" "c.2979T>G" "r.(?)" "p.(=)" "34" "0000151749" "00024106" "50" "3519" "0" "3519" "0" "c.3519T>G" "r.(?)" "p.(=)" "39" "0000151750" "00024106" "70" "3923" "0" "3923" "0" "c.3923A>G" "r.(?)" "p.(Gln1308Arg)" "44" "0000151751" "00024106" "90" "3925" "0" "3925" "0" "c.3925G>C" "r.(?)" "p.(Gly1309Arg)" "44" "0000151752" "00024106" "50" "4070" "0" "4070" "0" "c.4070G>A" "r.(?)" "p.(Gly1357Glu)" "46" "0000151753" "00024106" "50" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Gly1400Arg)" "47" "0000151754" "00024106" "50" "4326" "0" "4352" "0" "c.4326_4352del" "r.(?)" "p.(Asp1444_Leu1452del)" "49" "0000151755" "00024106" "79" "4346" "0" "4346" "0" "c.4346C>T" "r.(?)" "p.(Pro1449Leu)" "49" "0000151756" "00024106" "70" "4267" "0" "4267" "0" "c.4267dup" "r.(?)" "p.(Asp1423Glyfs*69)" "49" "0000151757" "00024106" "50" "4631" "0" "4631" "0" "c.4631G>A" "r.(?)" "p.(Trp1544*)" "50" "0000151758" "00024106" "50" "4750" "0" "4756" "0" "c.4750_4756del" "r.(?)" "p.(Ser1584Argfs*21)" "51" "0000151759" "00024106" "97" "4804" "0" "4804" "0" "c.4804G>A" "r.(?)" "p.(Gly1602Ser)" "51" "0000151760" "00024106" "97" "4807" "0" "4807" "0" "c.4807T>C" "r.(?)" "p.(Tyr1603His)" "51" "0000151761" "00024106" "50" "4223" "0" "4223" "0" "c.4223C>G" "r.(?)" "p.(Thr1408Ser)" "48" "0000151762" "00024106" "50" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Pro107Ser)" "5" "0000151763" "00024106" "50" "-1964" "0" "-1964" "0" "c.-1964G>C" "r.=" "p.=" "_1" "0000151764" "00024106" "30" "858" "0" "858" "0" "c.858T>C" "r.(?)" "p.(=)" "15" "0000151765" "00024106" "50" "1810" "0" "1810" "0" "c.1810C>A" "r.(?)" "p.(Pro604Thr)" "25" "0000151766" "00024106" "30" "2379" "0" "2379" "0" "c.2379G>A" "r.(?)" "p.(=)" "29" "0000151767" "00024106" "30" "1863" "0" "1863" "0" "c.1863T>A" "r.(?)" "p.(=)" "25" "0000151768" "00024106" "50" "2797" "0" "2797" "0" "c.2797C>T" "r.(?)" "p.(Leu933Phe)" "33" "0000151769" "00024106" "50" "4087" "0" "4087" "0" "c.4087G>T" "r.spl?" "p.(Gly1363Cys)" "46" "0000151770" "00024106" "50" "4297" "0" "4297" "0" "c.4297G>C" "r.(?)" "p.(Gly1433Arg)" "48" "0000151771" "00024106" "50" "4298" "0" "4298" "0" "c.4298G>A" "r.(?)" "p.(Gly1433Asp)" "48" "0000151772" "00024106" "50" "4709" "0" "4709" "0" "c.4709G>A" "r.(?)" "p.(Cys1570Tyr)" "51" "0000151773" "00024106" "50" "1739" "0" "1948" "98" "c.1739_1948+98del" "r.(?)" "p.?" "24_25i" "0000151774" "00024106" "50" "2705" "0" "2705" "0" "c.2705G>A" "r.(?)" "p.(Gly902Glu)" "32" "0000151775" "00024106" "50" "3472" "0" "3472" "0" "c.3472G>T" "r.(?)" "p.(Gly1158Trp)" "39" "0000151776" "00024106" "50" "3923" "0" "3923" "0" "c.3923A>G" "r.(?)" "p.(Gln1308Arg)" "44" "0000151777" "00024106" "90" "4707" "-1" "4821" "1" "c.(4706+1_4707-1)_(4821+1_4822-1)del" "r.?" "p.?" "50" "0000151778" "00024106" "50" "550" "0" "550" "0" "c.550dup" "r.(?)" "p.(Leu184Profs*32)" "10" "0000151779" "00024106" "50" "1866" "0" "1866" "0" "c.1866C>T" "r.(?)" "p.(=)" "25" "0000151780" "00024106" "50" "221" "0" "221" "0" "c.221G>T" "r.(?)" "p.(Arg74Leu)" "3" "0000151781" "00024106" "50" "2430" "0" "2430" "0" "c.2430G>T" "r.(?)" "p.(Met810Ile)" "30" "0000151782" "00024106" "50" "600" "0" "600" "0" "c.600A>C" "r.(?)" "p.(=)" "10" "0000151783" "00024106" "50" "3955" "0" "3955" "0" "c.3955C>T" "r.(?)" "p.(Arg1319Trp)" "45" "0000151784" "00024106" "10" "81" "128" "81" "128" "c.81+128T>C" "r.(?)" "p.(=)" "1i" "0000151785" "00024106" "10" "81" "128" "81" "128" "c.81+128T>C" "r.(?)" "p.(=)" "1i" "0000151786" "00024106" "10" "81" "1071" "81" "1071" "c.81+1071A>G" "r.(?)" "p.(=)" "1i" "0000151787" "00024106" "10" "81" "1071" "81" "1071" "c.81+1071A>G" "r.(?)" "p.(=)" "1i" "0000151788" "00024106" "10" "81" "15632" "81" "15632" "c.81+15632C>G" "r.(?)" "p.(=)" "1i" "0000151789" "00024106" "10" "81" "15632" "81" "15632" "c.81+15632C>G" "r.(?)" "p.(=)" "1i" "0000151790" "00024106" "10" "81" "15585" "81" "15585" "c.81+15585G>A" "r.(?)" "p.(=)" "1i" "0000151791" "00024106" "10" "81" "15585" "81" "15585" "c.81+15585G>A" "r.(?)" "p.(=)" "1i" "0000151792" "00024106" "10" "81" "17572" "81" "17572" "c.81+17572G>T" "r.(?)" "p.(=)" "1i" "0000151793" "00024106" "10" "81" "19188" "81" "19188" "c.81+19188A>G" "r.(?)" "p.(=)" "1i" "0000151794" "00024106" "10" "81" "19188" "81" "19188" "c.81+19188A>G" "r.(?)" "p.(=)" "1i" "0000151795" "00024106" "10" "81" "20262" "81" "20262" "c.81+20262C>A" "r.(?)" 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"p.(=)" "1i" "0000151960" "00024106" "10" "81" "12106" "81" "12106" "c.81+12106T>G" "r.(?)" "p.(=)" "1i" "0000151961" "00024106" "10" "81" "12371" "81" "12371" "c.81+12371C>T" "r.(?)" "p.(=)" "1i" "0000151962" "00024106" "10" "81" "12488" "81" "12488" "c.81+12488G>A" "r.(?)" "p.(=)" "1i" "0000151963" "00024106" "10" "82" "-31988" "82" "-31988" "c.82-31988A>G" "r.(?)" "p.(=)" "1i" "0000151964" "00024106" "10" "81" "21692" "81" "21692" "c.81+21692A>G" "r.(?)" "p.(=)" "1i" "0000151965" "00024106" "10" "81" "21692" "81" "21692" "c.81+21692A>G" "r.(?)" "p.(=)" "1i" "0000151966" "00024106" "10" "81" "21692" "81" "21692" "c.81+21692A>G" "r.(?)" "p.(=)" "1i" "0000151967" "00024106" "10" "81" "47485" "81" "47485" "c.81+47485G>A" "r.(?)" "p.(=)" "1i" "0000151968" "00024106" "10" "81" "47533" "81" "47533" "c.81+47533G>A" "r.(?)" "p.(=)" "1i" "0000151969" "00024106" "10" "82" "-25805" "82" "-25805" "c.82-25805G>A" "r.(?)" "p.(=)" "1i" "0000151971" "00024106" "90" "1166" "-1" "1423" "1" "c.(1165+1_1166-1)_(1423+1_1424-1)del" "r.(?)" "p.(Gly389_Lys474del)" "19i_21i" "0000151972" "00024106" "10" "609" "21" "609" "21" "c.609+21T>C" "r.(?)" "p.(?)" "10i" "0000151973" "00024106" "10" "1032" "54" "1032" "54" "c.1032+54T>C" "r.(?)" "p.(?)" "18i" "0000151974" "00024106" "90" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000151975" "00024106" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Pro88Ser)" "4" "0000151976" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000151977" "00024106" "50" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Gly521Asp)" "23" "0000151978" "00024106" "90" "1589" "0" "1589" "0" "c.1589G>A" "r.(?)" "p.(Gly530Asp)" "24" "0000151979" "00024106" "97" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Gly216Glu)" "12" "0000151980" "00024106" "90" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Gly239Arg)" "13" "0000151981" "00024106" "50" "3526" "0" "3526" "0" "c.3526G>A" "r.(?)" "p.(Gly1176Arg)" "39" "0000151982" "00024106" "50" "3659" "0" "3659" "0" "c.3659G>A" "r.(?)" "p.(Gly1220Asp)" "41" "0000151983" "00024106" "99" "4216" "0" "4216" "1" "c.4216_4216+1del" "r.4215_4216ins4216+2_4216+71" "p.?" "47" "0000151984" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000151985" "00024106" "99" "359" "0" "363" "0" "c.359_363delinsATAC" "r.(?)" "p.(Gly120Aspfs*35)" "6" "0000151986" "00024106" "90" "665" "0" "665" "0" "c.665T>G" "r.(?)" "p.(Phe222Cys)" "12" "0000151987" "00024106" "90" "682" "0" "682" "0" "c.682G>T" "r.(?)" "p.(Glu228*)" "12" "0000151989" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "25" "0000151993" "00024106" "10" "231" "25" "231" "25" "c.231+25A>T" "r.(?)" "p.(?)" "3i" "0000151994" "00024106" "10" "609" "21" "609" "21" "c.609+21T>C" "r.(?)" "p.(?)" "10i" "0000151995" "00024106" "10" "936" "32" "936" "32" "c.936+32A>G" "r.(?)" "p.(=)" "16i" "0000151996" "00024106" "10" "2768" "-11" "2768" "-11" "c.2768-11A>C" "r.(?)" "p.(?)" "32i" "0000151997" "00024106" "10" "2943" "0" "2943" "0" "c.2943A>G" "r.(?)" "p.(=)" "34" "0000151998" "00024106" "10" "3604" "114" "3604" "114" "c.3604+114G>A" "r.(?)" "p.(?)" "40i" "0000151999" "00024106" "90" "5047" "0" "5047" "0" "c.5047C>T" "r.(?)" "p.(Arg1683*)" "53" "0000152000" "00024106" "90" "2587" "0" "2606" "0" "c.2587_2606delins2678-174_2678-100inv" "r.(?)" "p.(?)" "31" "0000152001" "00024106" "90" "788" "0" "788" "0" "c.788del" "r.(?)" "p.(Pro263Leufs*83)" "14" "0000152002" "00024106" "70" "1948" "13" "1948" "13" "c.1948+13T>G" "r.(?)" "p.(?)" "25i" "0000152003" "00024106" "90" "4253" "0" "4253" "0" "c.4253del" "r.(?)" "p.(Gly1418Aspfs*136)" "48" "0000152004" "00024106" "90" "4960" "0" "4960" "0" "c.4960dup" "r.(?)" "p.(Trp1654Leufs*13)" "52" "0000152005" "00024106" "90" "3046" "0" "3046" "0" "c.3046del" "r.(?)" "p.(Gln1016Serfs*5)" "35" "0000152006" "00024106" "90" "476" "0" "476" "0" "c.476del" "r.(?)" "p.(Gly159Valfs*3)" "9" "0000152007" "00024106" "90" "573" "0" "574" "0" "c.573_574dup" "r.(?)" "p.(Gly192Glufs*12)" "10" "0000152008" "00024106" "90" "438" "2" "438" "2" "c.438+2T>C" "r.spl" "p.?" "7i" "0000152009" "00024106" "90" "2623" "0" "2623" "0" "c.2623G>C" "r.(?)" "p.(Gly875Arg)" "31" "0000152010" "00024106" "90" "2164" "0" "2164" "0" "c.2164G>C" "r.(?)" "p.(Gly722Arg)" "28" "0000152011" "00024106" "90" "4298" "0" "4298" "0" "c.4298G>C" "r.(?)" "p.(Gly1433Ala)" "48" "0000152012" "00024106" "90" "3613" "0" "3613" "0" "c.3613G>A" "r.(?)" "p.(Gly1205Ser)" "41" "0000152013" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000152014" "00024106" "90" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Gly672Ser)" "26" "0000152015" "00024106" "90" "1835" "0" "1835" "0" "c.1835G>A" "r.(?)" "p.(Gly612Asp)" "25" "0000152016" "00024106" "90" "4316" "0" "4316" "0" "c.4316G>T" "r.(?)" "p.(Gly1439Val)" "49" "0000152017" "00024106" "90" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Gly426Arg)" "20" "0000152018" "00024106" "90" "5048" "0" "5048" "0" "c.5048G>T" "r.(?)" "p.(Arg1683Leu)" "53" "0000152019" "00024106" "90" "430" "0" "430" "0" "c.430G>C" "r.(?)" "p.(Gly144Arg)" "7" "0000152020" "00024106" "90" "2483" "0" "2483" "0" "c.2483G>A" "r.(?)" "p.(Gly828Glu)" "30" "0000152021" "00024106" "90" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Gly582Arg)" "24" "0000152022" "00024106" "90" "2696" "0" "2696" "0" "c.2696G>T" "r.(?)" "p.(Gly899Val)" "32" "0000152023" "00024106" "90" "4457" "0" "4457" "0" "c.4457C>G" "r.(?)" "p.(Thr1486Arg)" "49" "0000152024" "00024106" "70" "82" "-1" "609" "1" "c.(81+1_82-1)_(609+1_610-1)del" "r.del" "p.(?)" "1i_10i" "0000152025" "00024106" "70" "3017" "-4" "3017" "-4" "c.3017-4A>G" "r.(?)" "p.(?)" "35i" "0000152026" "00024106" "10" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(=)" "19" "0000152027" "00024106" "90" "1331" "0" "1331" "0" "c.1331T>G" "r.(?)" "p.(Ile444Ser)" "20" "0000152028" "00024106" "10" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(=)" "27" "0000152029" "00024106" "10" "2349" "0" "2349" "0" "c.2349G>A" "r.(?)" "p.(=)" "29" "0000152030" "00024106" "10" "3513" "0" "3513" "0" "c.3513A>G" "r.(?)" "p.(=)" "39" "0000152031" "00024106" "10" "4293" "0" "4293" "0" "c.4293C>T" "r.(?)" "p.(=)" "48" "0000152032" "00024106" "51" "438" "36" "438" "36" "c.438+36G>T" "r.(?)" "p.(?)" "7i" "0000152033" "00024106" "10" "609" "21" "609" "21" "c.609+21T>C" "r.(?)" "p.(?)" "10i" "0000152034" "00024106" "10" "891" "37" "891" "37" "c.891+37A>G" "r.(?)" "p.(=)" "15i" "0000152035" "00024106" "10" "891" "83" "891" "84" "c.891+83_891+84insACTT" "r.(?)" "p.(=)" "15i" "0000152036" "00024106" "10" "1339" "181" "1339" "181" "c.1339+181A>G" "r.(?)" "p.(?)" "20i" "0000152037" "00024106" "10" "1587" "136" "1587" "136" "c.1587+136A>G" "r.(?)" "p.(?)" "23i" "0000152038" "00024106" "10" "2509" "50" "2509" "50" "c.2509+50T>G" "r.(?)" "p.(?)" "30i" "0000152039" "00024106" "10" "2509" "145" "2509" "145" "c.2509+145T>A" "r.(?)" "p.(?)" "30i" "0000152040" "00024106" "10" "2768" "-11" "2768" "-11" "c.2768-11A>G" "r.(?)" "p.(?)" "32i" "0000152041" "00024106" "10" "3107" "-100" "3107" "-100" "c.3107-100G>A" "r.(?)" "p.(?)" "35i" "0000152042" "00024106" "10" "3246" "67" "3246" "67" "c.3246+67A>G" "r.(?)" "p.(?)" "36i" "0000152043" "00024106" "10" "3553" "42" "3553" "42" "c.3553+42T>C" "r.(?)" "p.(?)" "39i" "0000152044" "00024106" "90" "4814" "0" "4821" "2" "c.4814_4821+2dup" "r.spl" "p.?" "51_51i" "0000152045" "00024106" "90" "3520" "0" "3520" "0" "c.3520del" "r.(?)" "p.(Ile1174Phefs*131)" "39" "0000152046" "00024106" "90" "2606" "0" "2606" "0" "c.2606G>A" "r.(?)" "p.(Gly869Glu)" "31" "0000152047" "00024106" "90" "1580" "0" "1580" "0" "c.1580G>A" "r.(?)" "p.(Gly527Glu)" "23" "0000152048" "00024106" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Gly129Glu)" "7" "0000152049" "00024106" "90" "4567" "0" "4567" "0" "c.4567C>A" "r.(?)" "p.(Pro1523Thr)" "50" "0000152050" "00024106" "90" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000152051" "00024106" "90" "-1" "0" "3246" "1" "c.(?_-1)_(3246+1_3247-1)del" "r.0?" "p.0?" "_1_36i" "0000152052" "00024106" "90" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000152053" "00024106" "90" "1589" "0" "1589" "0" "c.1589G>A" "r.1589g>a" "p.Gly530Asp" "24" "0000152054" "00024106" "90" "2696" "0" "2705" "0" "c.2696_2705del" "r.2696_2705del" "p.Gly899Aspfs*94" "32" "0000152055" "00024106" "90" "3855" "0" "3863" "0" "c.3855_3863del;3871_3872insA" "r.?" "p.?" "44" "0000152056" "00024106" "90" "4289" "0" "4289" "0" "c.4289G>A" "r.4289g>a" "p.Gly1430Glu" "48" "0000152057" "00024106" "90" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Gln379*)" "19" "0000152058" "00024106" "90" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Gly406Ser)" "20" "0000152059" "00024106" "90" "-1" "0" "5077" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_53_" "0000152060" "00024106" "90" "1424" "-1" "1779" "1" "c.(1423+1_1424-1)_(1779+1_1780-1)del" "E22_24del" "p.(?)" "21i_24i" "0000152061" "00024106" "90" "2396" "-1" "2509" "1" "c.(2395+1_2396-1)_(2509+1_2510-1)del" "E30 del" "p.(?)" "29i_30i" "0000152062" "00024106" "90" "-1" "0" "141" "1" "c.(?_-1)_(141+1_142-1)del" "r.0?" "p.0?" "_1_2i" "0000152063" "00024106" "90" "82" "-23455" "974386" "0" "c.82-23455_*969310del" "r.0?" "p.0?" "1i_53_" "0000152064" "00024106" "90" "4529" "-1" "5077" "0" "c.(4528+1_4529-1)_(*1_?)del" "r.(?)" "p.(?)" "49i_53_" "0000152065" "00024106" "90" "82" "-23455" "974386" "0" "c.82-23455_*969310del" "r.0?" "p.0?" "1i_53_" "0000152066" "00024106" "99" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000152067" "00024106" "99" "-1" "0" "141" "1" "c.(?_-1)_(141+1_142-1)del" "r.0?" "p.0?" "_1_2i" "0000152068" "00024106" "99" "-1" "0" "5077" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_53_" "0000152069" "00024106" "99" "-1" "0" "438" "1" "c.(?_-1)_(438+1_439-1)del" "r.0?" "p.0?" "_1_7i" "0000152070" "00024106" "99" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000152071" "00024106" "99" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000152072" "00024106" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "0000152073" "00024106" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "0000152074" "00024106" "90" "82" "-1" "1516" "1" "c.(81+1_82-1)_(1516+1_1517-1)dup" "r.(?)" "p.?" "1i_22i" "0000152075" "00024106" "90" "82" "-1" "4087" "1" "c.(81+1_82-1)_(4087+1_4088-1)del" "r.(?)" "p.?" "1i_46i" "0000152076" "00024106" "90" "82" "-1" "5077" "0" "c.(81+1_82-1)_(*1_?)del" "r.(?)" "p.?" "1i_53_" "0000152077" "00024106" "90" "90" "0" "90" "0" "c.90T>G" "r.(?)" "p.(Tyr30*)" "2" "0000152078" "00024106" "90" "142" "-1" "3246" "1" "c.(141+1_142-1)_(3246+1_3247-1)dup" "r.(?)" "p.(Gly47_Lys1082dup)" "2i_36i" "0000152079" "00024106" "90" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Glu49Gly)" "3" "0000152080" "00024106" "90" "150" "0" "151" "0" "c.150_151dup" "r.(?)" "p.(Gly51Glufs*105)" "3" "0000152081" "00024106" "90" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Gly51Arg)" "3" "0000152082" "00024106" "90" "176" "0" "176" "0" "c.176del" "r.(?)" "p.(Pro59Glnfs*96)" "3" "0000152083" "00024106" "90" "222" "0" "231" "18" "c.222_231+18del" "r.(?)" "p.(Arg74Argfs)" "3_3i" "0000152084" "00024106" "90" "232" "-2" "232" "-2" "c.232-2A>G" "r.spl" "p.?" "3i" "0000152085" "00024106" "90" "233" "0" "233" "0" "c.233del" "r.(?)" "p.(Gly78Valfs*77)" "4" "0000152086" "00024106" "90" "233" "0" "233" "0" "c.233del" "r.(?)" "p.(Gly78Valfs*77)" "4" "0000152087" "00024106" "90" "275" "0" "276" "2" "c.275_276+2del" "r.spl" "p.?" "4_4i" "0000152088" "00024106" "90" "275" "0" "276" "2" "c.275_276+2del" "r.spl" "p.?" "4_4i" "0000152089" "00024106" "90" "276" "1" "276" "2" "c.276+1_276+2del" "r.spl" "p.?" "4i" "0000152090" "00024106" "90" "293" "0" "293" "0" "c.293del" "r.(?)" "p.(Pro98Leufs*57)" "5" "0000152091" "00024106" "90" "293" "0" "293" "0" "c.293del" "r.(?)" "p.(Pro98Leufs*57)" "5" "0000152092" "00024106" "90" "321" "1" "321" "2" "c.321+1_321+2dup" "r.spl" "p.?" "5_5i" "0000152093" "00024106" "70" "321" "3" "321" "3" "c.321+3A>T" "r.spl?" "p.?" "5i" "0000152094" "00024106" "70" "321" "3" "321" "3" "c.321+3A>T" "r.spl?" "p.?" "5i" "0000152095" "00024106" "90" "322" "0" "322" "0" "c.322G>T" "r.(?)" "p.(Gly108*)" "6" "0000152096" "00024106" "90" "349" "0" "349" "0" "c.349G>T" "r.(?)" "p.(Gly117*)" "6" "0000152097" "00024106" "90" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Arg)" "6" "0000152098" "00024106" "90" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Arg)" "6" "0000152099" "00024106" "90" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Gly123Glu)" "6" "0000152100" "00024106" "90" "385" "-2" "385" "-2" "c.385-2A>G" "r.spl" "p.?" "6i" "0000152101" "00024106" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Gly129Glu)" "7" "0000152102" "00024106" "90" "431" "0" "431" "0" "c.431G>A" "r.(?)" "p.(Gly144Asp)" "7" "0000152103" "00024106" "70" "438" "5" "438" "5" "c.438+5G>A" "r.spl?" "p.?" "7i" "0000152104" "00024106" "90" "446" "0" "446" "0" "c.446del" "r.(?)" "p.(Pro149Leufs*6)" "8" "0000152105" "00024106" "90" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Gly153Asp)" "8" "0000152106" "00024106" "90" "466" "-2" "466" "-2" "c.466-2A>G" "r.spl" "p.?" "8i" "0000152107" "00024106" "90" "466" "-2" "466" "-2" "c.466-2A>G" "r.spl" "p.?" "8i" "0000152108" "00024106" "90" "466" "-1" "466" "-1" "c.466-1G>A" "r.spl" "p.?" "8i" "0000152109" "00024106" "90" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Met163Thr)" "9" "0000152110" "00024106" "90" "530" "0" "530" "0" "c.530G>A" "r.(?)" "p.(Gly177Asp)" "9" "0000152111" "00024106" "90" "530" "0" "530" "0" "c.530G>T" "r.(?)" "p.(Gly177Val)" "9" "0000152112" "00024106" "90" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Gln182*)" "9" "0000152113" "00024106" "90" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Gln182*)" "9" "0000152114" "00024106" "90" "547" "-1" "1032" "1" "c.(546+1_547-1)_(1032+1_1033-1)del" "r.(?)" "p.(Gly183_Leu344del)" "9i_18i" "0000152115" "00024106" "90" "547" "-1" "1779" "1" "c.(546+1_547-1)_(1779+1_1780)dup" "r.?" "p.(Gly183_Pro593dup)" "9i_24i" "0000152116" "00024106" "90" "548" "0" "548" "0" "c.548del" "r.(?)" "p.(Gly183Alafs*20)" "10" "0000152117" "00024106" "90" "556" "0" "556" "0" "c.556G>C" "r.(?)" "p.(Gly186Arg)" "10" "0000152118" "00024106" "90" "570" "0" "570" "0" "c.570dup" "r.(?)" "p.(Pro191Thrfs*25)" "10" "0000152119" "00024106" "70" "574" "0" "579" "0" "c.574_579del" "r.(?)" "p.(Gly192_Pro193del)" "10" "0000152120" "00024106" "90" "583" "0" "583" "0" "c.583G>C" "r.(?)" "p.(Gly195Arg)" "10" "0000152121" "00024106" "90" "590" "0" "590" "0" "c.590del" "r.(?)" "p.(Pro197Glnfs*6)" "10" "0000152122" "00024106" "90" "589" "0" "590" "0" "c.589_590dup" "r.(?)" "p.(Gly198Glnfs*6)" "10" "0000152123" "00024106" "90" "609" "2" "609" "2" "c.609+2T>G" "r.spl" "p.?" "10i" "0000152124" "00024106" "90" "609" "-2" "609" "-2" "c.609-2del" "r.spl" "p.?" "10i" "0000152125" "00024106" "90" "611" "0" "611" "0" "c.611G>T" "r.(?)" "p.(Gly204Val)" "11" "0000152126" "00024106" "90" "645" "1" "645" "1" "c.645+1G>A" "r.spl" "p.?" "11i" "0000152127" "00024106" "90" "646" "-2" "646" "-2" "c.646-2A>G" "r.spl" "p.?" "11i" "0000152128" "00024106" "90" "646" "-1" "646" "-1" "c.646-1G>A" "r.spl" "p.?" "11i" "0000152129" "00024106" "90" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" "12" "0000152130" "00024106" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Gln223*)" "12" "0000152131" "00024106" "90" "672" "0" "673" "0" "c.672_673del" "r.(?)" "p.(Pro225Glnfs*3)" "12" "0000152132" "00024106" "90" "685" "0" "685" "0" "c.685A>T" "r.(?)" "p.(Lys229*)" "12" "0000152133" "00024106" "70" "687" "2" "687" "2" "c.687+2T>C" "r.spl?" "p.?" "12i" "0000152134" "00024106" "70" "688" "-5" "688" "-5" "c.688-5A>G" "r.spl?" "p.?" "12i" "0000152135" "00024106" "70" "688" "-5" "688" "-5" "c.688-5A>G" "r.spl?" "p.?" "12i" "0000152136" "00024106" "70" "688" "-5" "688" "-5" "c.688-5A>G" "r.spl?" "p.?" "12i" "0000152137" "00024106" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Gly230Ser)" "13" "0000152138" "00024106" "90" "689" "0" "689" "0" "c.689G>C" "r.(?)" "p.(Gly230Ala)" "13" "0000152139" "00024106" "90" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Gly233Ser)" "13" "0000152140" "00024106" "90" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Gly233Ser)" "13" "0000152141" "00024106" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Gly233Asp)" "13" "0000152142" "00024106" "90" "698" "0" "698" "0" "c.698G>T" "r.(?)" "p.(Gly233Val)" "13" "0000152143" "00024106" "90" "698" "0" "698" "0" "c.698G>T" "r.(?)" "p.(Gly233Val)" "13" "0000152144" "00024106" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Gln235*)" "13" "0000152145" "00024106" "70" "711" "0" "713" "0" "c.711_713del" "r.(?)" "p.(Pro238del)" "13" "0000152146" "00024106" "90" "761" "0" "762" "0" "c.761_762del" "r.(?)" "p.(Glu254Valfs*11)" "13" "0000152147" "00024106" "90" "761" "0" "762" "0" "c.761_762del" "r.(?)" "p.(Glu254Valfs*11)" "13" "0000152148" "00024106" "90" "781" "-1" "1165" "1" "c.(780+1_781-1)_(1165+1_1166-1)del" "r.?" "p.?" "13i_19i" "0000152149" "00024106" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266*)" "14" "0000152150" "00024106" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266*)" "14" "0000152151" "00024106" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Gly270Glu)" "14" "0000152152" "00024106" "90" "834" "1" "834" "1" "c.834+1G>A" "r.spl" "p.?" "14i" "0000152153" "00024106" "90" "834" "2" "834" "2" "c.834+2del" "r.spl" "p.?" "14i" "0000152154" "00024106" "90" "834" "2" "834" "2" "c.834+2T>G" "r.spl" "p.?" "14i" "0000152155" "00024106" "90" "834" "2" "834" "2" "c.834+2T>G" "r.spl" "p.?" "14i" "0000152156" "00024106" "90" "866" "0" "866" "0" "c.866G>T" "r.(?)" "p.(Gly289Val)" "15" "0000152157" "00024106" "90" "875" "0" "875" "0" "c.875G>A" "r.(?)" "p.(Gly292Glu)" "15" "0000152158" "00024106" "90" "888" "0" "889" "0" "c.888_889del" "r.(?)" "p.(Gly298*)" "15" "0000152159" "00024106" "90" "892" "-1" "4015" "1" "c.(891+1_892-1)_(4015+1_4016-1)del" "r.(?)" "p.(Gly298Valfs*41)" "15i_45i" "0000152160" "00024106" "90" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Gly298Ser)" "16" "0000152161" "00024106" "90" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Ser)" "16" "0000152162" "00024106" "70" "936" "2" "936" "2" "c.936+2T>C" "r.spl?" "p.?" "16i" "0000152163" "00024106" "90" "947" "0" "947" "0" "c.947G>C" "r.(?)" "p.(Gly316Ala)" "17" "0000152164" "00024106" "90" "955" "0" "955" "0" "c.955G>C" "r.(?)" "p.(Gly319Arg)" "17" "0000152165" "00024106" "90" "960" "0" "960" "0" "c.960C>G" "r.(?)" "p.(Tyr320*)" "17" "0000152166" "00024106" "90" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000152167" "00024106" "90" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000152168" "00024106" "90" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000152169" "00024106" "90" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000152170" "00024106" "90" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000152171" "00024106" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Gly337Asp)" "18" "0000152172" "00024106" "90" "1028" "0" "1032" "2" "c.1028_1032+2delinsTC" "r.spl" "p.?" "18_18i" "0000152173" "00024106" "90" "1032" "1" "1032" "1" "c.1032+1G>A" "r.spl" "p.?" "18i" "0000152174" "00024106" "90" "1033" "-1" "1033" "-1" "c.1033-1G>A" "r.spl" "p.?" "18i" "0000152175" "00024106" "90" "1033" "-2" "1033" "-2" "c.1033-2A>T" "r.spl" "p.?" "18i" "0000152176" "00024106" "90" "1085" "0" "1085" "0" "c.1085G>A" "r.(?)" "p.(Gly362Glu)" "19" "0000152177" "00024106" "10" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(=)" "19" "0000152178" "00024106" "90" "1112" "0" "1112" "0" "c.1112G>T" "r.(?)" "p.(Gly371Val)" "19" "0000152179" "00024106" "10" "1117" "0" "1117" "0" "c.1117C>A" "r.(?)" "p.(=)" "19" "0000152180" "00024106" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373*)" "19" "0000152181" "00024106" "90" "1121" "0" "1121" "0" "c.1121G>A" "r.(?)" "p.(Gly374Glu)" "19" "0000152182" "00024106" "90" "1121" "0" "1121" "0" "c.1121G>T" "r.(?)" "p.(Gly374Val)" "19" "0000152183" "00024106" "90" "1130" "0" "1130" "0" "c.1130G>T" "r.(?)" "p.(Gly377Val)" "19" "0000152184" "00024106" "90" "1130" "0" "1130" "0" "c.1130G>T" "r.(?)" "p.(Gly377Val)" "19" "0000152185" "00024106" "90" "1138" "0" "1138" "0" "c.1138G>C" "r.(?)" "p.(Gly380Arg)" "19" "0000152186" "00024106" "90" "1138" "0" "1138" "0" "c.1138G>T" "r.(?)" "p.(Gly380Cys)" "19" "0000152187" "00024106" "90" "1154" "0" "1154" "0" "c.1154del" "r.(?)" "p.(Pro385Leufs*89)" "19" "0000152188" "00024106" "90" "1165" "1" "1165" "1" "c.1165+1G>A" "r.(?)" "p.(?)" "19i" "0000152189" "00024106" "70" "1165" "2" "1165" "2" "c.1165+2T>C" "r.spl?" "p.?" "19i" "0000152190" "00024106" "70" "1165" "3" "1165" "3" "c.1165+3A>T" "r.spl?" "p.?" "19i" "0000152191" "00024106" "90" "1166" "-1" "1423" "1" "c.(1165+1_1166-1)_(1423+1_1424-1)del" "r.(?)" "p.(Gly389fs)" "19i_21i" "0000152192" "00024106" "90" "1166" "-1" "1516" "1" "c.(1165+1_1166-1)_(1516+1_1517-1)del" "r.(?)" "p.(Gly389fs)" "19i_22i" "0000152193" "00024106" "90" "1166" "-1" "1516" "1" "c.(1165+1_1166-1)_(1516+1_1517-1)del" "r.(?)" "p.(Gly389fs)" "19i_22i" "0000152194" "00024106" "90" "1166" "-1" "5077" "0" "c.(1165+1_1166-1)_(*1_?)del" "r.(?)" "p.(Gly389fs)" "19i_53_" "0000152195" "00024106" "90" "1186" "0" "1186" "0" "c.1186C>G" "r.(?)" "p.(Pro396Ala)" "20" "0000152196" "00024106" "90" "1187" "0" "1187" "0" "c.1187C>T" "r.(?)" "p.(Pro396Leu)" "20" "0000152197" "00024106" "90" "1190" "0" "1190" "0" "c.1190G>A" "r.(?)" "p.(Gly397Asp)" "20" "0000152198" "00024106" "90" "1199" "0" "1199" "0" "c.1199G>T" "r.(?)" "p.(Gly400Val)" "20" "0000152199" "00024106" "90" "1199" "0" "1199" "0" "c.1199G>T" "r.(?)" "p.(Gly400Val)" "20" "0000152200" "00024106" "90" "1203" "0" "1203" "0" "c.1203del" "r.(?)" "p.(Pro402Leufs*72)" "20" "0000152201" "00024106" "90" "1213" "0" "1213" "0" "c.1213dup" "r.(?)" "p.(Arg405Lysfs*6)" "20" "0000152202" "00024106" "90" "1216" "0" "1216" "0" "c.1216G>T" "r.(?)" "p.(Gly406Cys)" "20" "0000152203" "00024106" "90" "1217" "0" "1217" "0" "c.1217G>T" "r.(?)" "p.(Gly406Val)" "20" "0000152204" "00024106" "90" "1226" "0" "1226" "0" "c.1226G>T" "r.(?)" "p.(Gly409Val)" "20" "0000152205" "00024106" "90" "1254" "0" "1254" "0" "c.1254del" "r.(?)" "p.(Pro419Leufs*55)" "20" "0000152206" "00024106" "90" "1258" "0" "1258" "0" "c.1258G>A" "r.(?)" "p.(Gly420Arg)" "20" "0000152207" "00024106" "90" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Gly426Arg)" "20" "0000152208" "00024106" "90" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Gly426Glu)" "20" "0000152209" "00024106" "90" "1279" "0" "1286" "0" "c.1279_1286del" "r.(?)" "p.(Gln427Glyfs*18)" "20" "0000152210" "00024106" "90" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Gly429Glu)" "20" "0000152211" "00024106" "90" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Asp)" "20" "0000152212" "00024106" "90" "1289" "0" "1289" "0" "c.1289del" "r.(?)" "p.(Ala430Valfs*44)" "20" "0000152213" "00024106" "90" "1313" "0" "1313" "0" "c.1313del" "r.(?)" "p.(Gly438Alafs*36)" "20" "0000152214" "00024106" "90" "1312" "0" "1312" "0" "c.1312G>C" "r.(?)" "p.(Gly438Arg)" "20" "0000152215" "00024106" "90" "1331" "0" "1331" "0" "c.1331T>G" "r.(?)" "p.(Ile444Ser)" "20" "0000152216" "00024106" "90" "1339" "2" "1339" "2" "c.1339+2T>G" "r.spl" "p.?" "20i" "0000152217" "00024106" "90" "1340" "-2" "1340" "-2" "c.1340-2A>G" "r.spl" "p.?" "20i" "0000152218" "00024106" "90" "1365" "0" "1373" "0" "c.1365_1373del" "r.(?)" "p.(Pro458_Gly460del)" "21" "0000152219" "00024106" "90" "1365" "0" "1373" "0" "c.1365_1373del" "r.(?)" "p.(Pro458_Gly460del)" "21" "0000152220" "00024106" "90" "1369" "0" "1369" "0" "c.1369G>C" "r.(?)" "p.(Gly457Arg)" "21" "0000152221" "00024106" "90" "1376" "0" "1376" "0" "c.1376dup" "r.(?)" "p.(Gly460Argfs*5)" "21" "0000152222" "00024106" "90" "1390" "0" "1390" "0" "c.1390G>A" "r.(?)" "p.(Asp464Asn)" "21" "0000152223" "00024106" "90" "1397" "0" "1397" "0" "c.1397G>A" "r.(?)" "p.(Gly466Glu)" "21" "0000152224" "00024106" "90" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Gly469Glu)" "21" "0000152225" "00024106" "90" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Gly475Ser)" "21" "0000152226" "00024106" "70" "1423" "1" "1423" "1" "c.1423+1G>A" "r.spl?" "p.?" "21i" "0000152227" "00024106" "90" "1423" "1" "1423" "1" "c.1423+1G>T" "r.spl" "p.?" "21i" "0000152228" "00024106" "50" "1424" "-4" "1424" "-4" "c.1424-4C>G" "r.spl?" "p.?" "21i" "0000152229" "00024106" "90" "1424" "-1" "2244" "1" "c.(1423+1_1424-1)_(2244+1_2245-1)del" "r.(?)" 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"p.(Gly515Arg)" "23" "0000152240" "00024106" "90" "1543" "0" "1543" "0" "c.1543G>T" "r.(?)" "p.(Gly515Trp)" "23" "0000152241" "00024106" "90" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Gly521Asp)" "23" "0000152242" "00024106" "90" "1570" "0" "1570" "0" "c.1570G>T" "r.(?)" "p.(Gly524Cys)" "23" "0000152243" "00024106" "90" "1580" "0" "1580" "0" "c.1580G>A" "r.(?)" "p.(Gly527Glu)" "23" "0000152244" "00024106" "70" "1587" "1" "1587" "1" "c.1587+1G>A" "r.spl?" "p.?" "23i" "0000152245" "00024106" "90" "1588" "-1" "1588" "-1" "c.1588-1G>T" "r.spl" "p.?" "23i" "0000152246" "00024106" "10" "1588" "-32" "1588" "-32" "c.1588-32C>G" "r.(?)" "p.(?)" "23i" "0000152247" "00024106" "90" "1597" "0" "1597" "0" "c.1597G>T" "r.(?)" "p.(Gly533*)" "24" "0000152248" "00024106" "90" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Glu)" "24" "0000152249" "00024106" "90" "1615" "0" "1615" "0" "c.1615G>C" "r.(?)" "p.(Gly539Arg)" "24" "0000152250" "00024106" "90" "1673" "0" "1673" "0" "c.1673del" "r.(?)" "p.(Gly558Valfs*60)" "24" "0000152251" "00024106" "90" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Gly558Asp)" "24" "0000152252" "00024106" "90" "1680" "0" "1680" "0" "c.1680del" "r.(?)" "p.(Gly561Glufs*57)" "24" "0000152253" "00024106" "90" "1681" "0" "1681" "0" "c.1681G>A" "r.(?)" "p.(Gly561Arg)" "24" "0000152254" "00024106" "90" "1709" "0" "1709" "0" "c.1709G>A" "r.(?)" "p.(Gly570Glu)" "24" "0000152255" "00024106" "90" "1709" "0" "1709" "0" "c.1709G>A" "r.(?)" "p.(Gly570Glu)" "24" "0000152256" "00024106" "10" "1710" "0" "1710" "0" "c.1710G>T" "r.(?)" "p.(=)" "24" "0000152257" "00024106" "70" "1772" "0" "1774" "0" "c.1772_1774del" "r.(?)" "p.(Gly591del)" "24" "0000152258" "00024106" "90" "1779" "1" "1779" "1" "c.1779+1G>A" "r.spl" "p.?" "24i" "0000152259" "00024106" "70" "1779" "2" "1779" "2" "c.1779+2dup" "r.spl?" "p.?" "24i" "0000152260" "00024106" "70" "1779" "3" "1779" "3" "c.1779+3G>C" "r.spl?" "p.?" "24i" "0000152261" "00024106" "70" "1779" "4" "1779" "8" "c.1779+4_1779+8del" "r.spl?" "p.?" "24i" "0000152262" "00024106" "70" "1779" "5" "1779" "5" "c.1779+5G>T" "r.spl?" "p.?" "24i" "0000152263" "00024106" "90" "1781" "0" "1781" "0" "c.1781G>A" "r.(?)" "p.(Gly594Asp)" "25" "0000152264" "00024106" "10" "1785" "0" "1785" "0" "c.1785A>G" "r.(?)" "p.(=)" "25" "0000152265" "00024106" "90" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Gly606Arg)" "25" "0000152266" "00024106" "90" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Gly609Asp)" "25" "0000152267" "00024106" "90" "1826" "0" "1826" "0" "c.1826G>T" "r.(?)" "p.(Gly609Val)" "25" "0000152268" "00024106" "90" "1844" "0" "1844" "0" "c.1844G>T" "r.(?)" "p.(Gly615Val)" "25" "0000152269" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "25" "0000152270" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "25" "0000152271" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "25" "0000152272" "00024106" "90" "1885" "0" "1885" "0" "c.1885G>A" "r.(?)" "p.(Gly629Ser)" "25" "0000152273" "00024106" "90" "1886" "0" "1886" "0" "c.1886G>A" "r.(?)" "p.(Gly629Asp)" "25" "0000152274" "00024106" "90" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Gly632Ser)" "25" "0000152275" "00024106" "90" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Gly635Ser)" "25" "0000152276" "00024106" "90" "1931" "0" "1931" "0" "c.1931G>A" "r.(?)" "p.(Gly644Asp)" "25" "0000152277" "00024106" "90" "1941" "0" "1948" "1" "c.1941_1948+1del" "r.spl?" "p.(Ile648_Gly650del)" "25" "0000152278" "00024106" "90" "1948" "0" "1948" "0" "c.1948G>C" "r.(?)" "p.(Gly650Arg)" "25" "0000152279" "00024106" "90" "1948" "-1" "1948" "-1" "c.1948-1G>T" "r.spl" "p.?" "25i" "0000152280" "00024106" "90" "1949" "0" "1949" "0" "c.1949G>A" "r.(?)" "p.(Gly650Asp)" "26" "0000152281" "00024106" "90" "1949" "0" "1949" "0" "c.1949G>A" "r.(?)" "p.(Gly650Asp)" "26" "0000152282" "00024106" "90" "1949" "0" "1949" "0" "c.1949G>A" "r.(?)" "p.(Gly650Asp)" "26" "0000152283" "00024106" "90" "1969" "0" "1969" "0" "c.1969C>A" "r.(?)" "p.(Gln657Lys)" "26" "0000152284" "00024106" "90" "1992" "0" "1992" "0" "c.1992G>T" "r.(?)" "p.(Lys664Asn)" "26" "0000152285" "00024106" "90" "1992" "0" "1992" "0" "c.1992G>T" "r.(?)" "p.(Lys664Asn)" "26" "0000152286" "00024106" "90" "1997" "0" "1997" "0" "c.1997G>A" "r.(?)" "p.(Gly666Asp)" "26" "0000152287" "00024106" "90" "2020" "0" "2026" "0" "c.2020_2026dup" "r.(?)" "p.(Asp676Glyfs*3)" "26" "0000152288" "00024106" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Gly675Ser)" "26" "0000152289" "00024106" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Gly675Ser)" "26" "0000152290" "00024106" "90" "2032" "0" "2032" "0" "c.2032G>T" "r.(?)" "p.(Gly678Cys)" "26" "0000152291" "00024106" "90" "2041" "1" "2041" "1" "c.2041+1G>A" "r.spl" "p.?" "26i" "0000152292" "00024106" "90" "2041" "1" "2041" "1" "c.2041+1G>A" "r.spl" "p.?" "26i" "0000152293" "00024106" "90" "2042" "0" "2042" "0" "c.2042G>A" "r.(?)" "p.(Gly681Asp)" "27" "0000152294" "00024106" "90" "2048" "0" "2050" "0" "c.2048_2050del" "r.(?)" "p.(Pro683_Gly684delinsArg)" "27" "0000152295" "00024106" "10" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(=)" "27" "0000152296" "00024106" "90" "2059" "0" "2059" "0" "c.2059G>A" "r.(?)" "p.(Gly687Arg)" "27" "0000152297" "00024106" "90" "2068" "0" "2068" "0" "c.2068G>A" "r.(?)" "p.(Gly690Ser)" "27" "0000152298" "00024106" "90" "2095" "0" "2095" "0" "c.2095G>A" "r.(?)" "p.(Gly699Arg)" "27" "0000152299" "00024106" "90" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Gly713Ser)" "27" "0000152300" "00024106" "90" "2147" "-1" "2147" "-1" "c.2147-1G>C" "r.spl" "p.?" "27i" "0000152301" "00024106" "90" "2147" "-1" "2147" "-1" "c.2147-1G>T" "r.spl" "p.?" "27i" "0000152302" "00024106" "90" "2192" "0" "2192" "0" "c.2192del" "r.(?)" "p.(Gly731Glufs*5)" "28" "0000152303" "00024106" "90" "2206" "0" "2206" "0" "c.2206G>T" "r.(?)" "p.(Glu736*)" "28" "0000152304" "00024106" "90" "2210" "0" "2210" "0" "c.2210G>A" "r.(?)" "p.(Gly737Asp)" "28" "0000152305" "00024106" "90" "2244" "0" "2244" "0" "c.2244G>T" "r.(?)" "p.(Lys748Asn)" "28" "0000152306" "00024106" "90" "2244" "1" "2244" "1" "c.2244+1G>A" "r.spl" "p.?" "28i" "0000152307" "00024106" "90" "2244" "1" "2244" "1" "c.2244+1G>A" "r.spl" "p.?" "28i" "0000152308" "00024106" "90" "2244" "1" "2244" "1" "c.2244+1G>C" "r.spl" "p.?" "28i" "0000152309" "00024106" "90" "2244" "1" "2244" "1" "c.2244+1G>T" "r.spl" "p.?" "28i" "0000152310" "00024106" "90" "2245" "-1" "2245" "-1" "c.2245-1G>A" "r.spl" "p.?" "28i" "0000152311" "00024106" "90" "2245" "-1" "2509" "1" "c.(2244+1_2245-1)_(2509+1_2510-1)dup" "r.(?)" "p.?" "28i_30i" "0000152312" "00024106" "99" "2245" "-1" "2677" "1" "c.(2244+1_2245-1)_(2677+1_2678-1)del" "r.(?)" "p.(Gly749Valfs*8)" "28i_31i" "0000152313" "00024106" "90" "2245" "0" "2245" "0" "c.2245G>C" "r.(?)" "p.(Gly749Arg)" "29" "0000152314" "00024106" "90" "2255" "0" "2255" "0" "c.2255G>A" "r.(?)" "p.(Gly752Glu)" "29" "0000152315" "00024106" "90" "2287" "0" "2287" "0" "c.2287G>A" "r.(?)" "p.(Gly763Arg)" "29" "0000152316" "00024106" "90" "2288" "0" "2288" "0" "c.2288G>A" "r.(?)" "p.(Gly763Glu)" "29" "0000152317" "00024106" "90" "2294" "0" "2294" "0" "c.2294del" "r.(?)" "p.(Pro765Glnfs*27)" "29" "0000152318" "00024106" "90" "2297" "0" "2297" "0" "c.2297G>T" "r.(?)" "p.(Gly766Val)" "29" "0000152319" "00024106" "90" "2308" "0" "2308" "0" "c.2308G>C" "r.(?)" "p.(Ala770Pro)" "29" "0000152320" "00024106" "10" "2349" "0" "2349" "0" "c.2349G>A" "r.(?)" "p.(=)" "29" "0000152321" "00024106" "90" "2386" "0" "2386" "0" "c.2386G>A" "r.(?)" "p.(Gly796Arg)" "29" "0000152322" "00024106" "90" "2396" "0" "2396" "0" "c.2396G>A" "r.(?)" "p.(Gly799Asp)" "30" "0000152323" "00024106" "90" "2396" "0" "2396" "0" "c.2396G>A" "r.(?)" "p.(Gly799Asp)" "30" "0000152324" "00024106" "90" "2396" "0" "2396" "0" "c.2396G>A" "r.(?)" "p.(Gly799Asp)" "30" "0000152325" "00024106" "90" "2396" "0" "2396" "0" "c.2396G>T" "r.(?)" "p.(Gly799Val)" "30" "0000152326" "00024106" "90" "2414" "0" "2414" "0" "c.2414G>T" "r.(?)" "p.(Gly805Val)" "30" "0000152327" "00024106" "90" "2416" "0" "2416" "0" "c.2416C>T" "r.(?)" "p.(Gln806*)" "30" "0000152328" "00024106" "90" "2440" "0" "2440" "0" "c.2440G>A" "r.(?)" "p.(Gly814Arg)" "30" "0000152329" "00024106" "90" "2441" "0" "2441" "0" "c.2441G>A" "r.(?)" "p.(Gly814Glu)" "30" "0000152330" "00024106" "90" "2464" "0" "2464" "0" "c.2464G>A" "r.(?)" "p.(Gly822Arg)" "30" "0000152331" "00024106" "90" "2465" "0" "2465" "0" "c.2465G>T" "r.(?)" "p.(Gly822Val)" "30" "0000152332" "00024106" "90" "2501" "0" "2501" "0" "c.2501G>A" "r.(?)" "p.(Gly834Asp)" "30" "0000152333" "00024106" "90" "2509" "2" "2509" "5" "c.2509+2_2509+5del" "r.spl" "p.?" "30i" "0000152334" "00024106" "10" "2509" "3716" "2509" "3716" "c.2509+3716C>G" "r.(?)" "p.(?)" "30i" "0000152335" "00024106" "10" "2509" "603" "2509" "603" "c.2509+603A>G" "r.(?)" "p.(?)" "30i" "0000152336" "00024106" "90" "2510" "-1" "5077" "0" "c.(2509+1_2510-1)_(*1_?)del" "r.(?)" "p.(Gly837fs)" "30i_53_" "0000152337" "00024106" "90" "2510" "0" "2510" "0" "c.2510G>T" "r.(?)" "p.(Gly837Val)" "31" "0000152338" "00024106" "90" "2510" "0" "2510" "0" "c.2510G>T" "r.(?)" "p.(Gly837Val)" "31" "0000152339" "00024106" "90" "2537" "0" "2537" "0" "c.2537G>A" "r.(?)" "p.(Gly846Glu)" "31" "0000152340" "00024106" "90" "2570" "0" "2570" "0" "c.2570dup" "r.(?)" "p.(Pro858Thrfs*4)" "31" "0000152341" "00024106" "90" "2576" "0" "2576" "0" "c.2576del" "r.(?)" "p.(Pro859Glnfs*16)" "31" "0000152342" "00024106" "90" "2579" "0" "2579" "0" "c.2579G>A" "r.(?)" "p.(Gly860Asp)" "31" "0000152343" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000152344" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000152345" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000152346" "00024106" "90" "2606" "0" "2606" "0" "c.2606G>A" "r.(?)" "p.(Gly869Glu)" "31" "0000152347" "00024106" "90" "2623" "0" "2623" "0" "c.2623G>T" "r.(?)" "p.(Gly875*)" "31" "0000152348" "00024106" "90" "2624" "0" "2624" "0" "c.2624G>C" "r.(?)" "p.(Gly875Ala)" "31" "0000152349" "00024106" "90" "2625" "0" "2642" "0" "c.2625_2642dup" "r.(?)" "p.(Pro876_Gly881dup)" "31" "0000152350" "00024106" "90" "2650" "0" "2650" "0" "c.2650G>A" "r.(?)" "p.(Gly884Arg)" "31" "0000152351" "00024106" "90" "2678" "-1" "2678" "-1" "c.2678-1G>T" "r.spl" "p.?" "31i" "0000152352" "00024106" "70" "2678" "-3" "2678" "-3" "c.2678-3A>G" "r.spl?" "p.?" "31i" "0000152353" "00024106" "90" "2686" "0" "2686" "0" "c.2686G>A" "r.(?)" "p.(Gly896Ser)" "32" "0000152354" "00024106" "90" "2686" "0" "2686" "0" "c.2686G>T" "r.(?)" "p.(Gly896Cys)" "32" "0000152355" "00024106" "90" "2687" "0" "2687" "0" "c.2687G>A" "r.(?)" "p.(Gly896Asp)" "32" "0000152356" "00024106" "90" "2689" "0" "2689" "0" "c.2689G>A" "r.(?)" "p.(Glu897Lys)" "32" "0000152357" "00024106" "90" "2696" "0" "2696" "0" "c.2696G>A" "r.(?)" "p.(Gly899Asp)" "32" "0000152358" "00024106" "90" "2705" "0" "2705" "0" "c.2705G>A" "r.(?)" "p.(Gly902Glu)" "32" "0000152359" "00024106" "90" "2705" "0" "2705" "0" "c.2705G>T" "r.(?)" "p.(Gly902Val)" "32" "0000152360" "00024106" "90" "2719" "0" "2719" "0" "c.2719C>T" "r.(?)" "p.(Pro907Ser)" "32" "0000152361" "00024106" "90" "2722" "0" "2722" "0" "c.2722G>T" "r.(?)" "p.(Gly908*)" "32" "0000152362" "00024106" "90" "2722" "0" "2722" "0" "c.2722G>T" "r.(?)" "p.(Gly908*)" "32" "0000152363" "00024106" "90" "2731" "0" "2731" "0" "c.2731G>T" "r.(?)" 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"p.(Pro934Leufs*62)" "33" "0000152374" "00024106" "90" "2804" "0" "2804" "0" "c.2804G>A" "r.(?)" "p.(Gly935Asp)" "33" "0000152375" "00024106" "90" "2831" "0" "2831" "0" "c.2831G>A" "r.(?)" "p.(Gly944Glu)" "33" "0000152376" "00024106" "90" "2831" "0" "2831" "0" "c.2831G>A" "r.(?)" "p.(Gly944Glu)" "33" "0000152377" "00024106" "90" "2858" "0" "2858" "0" "c.2858G>T" "r.(?)" "p.(Gly953Val)" "33" "0000152378" "00024106" "90" "2858" "0" "2858" "0" "c.2858G>T" "r.(?)" "p.(Gly953Val)" "33" "0000152379" "00024106" "90" "2938" "0" "2938" "0" "c.2938C>T" "r.(?)" "p.(Pro980Ser)" "34" "0000152380" "00024106" "90" "2943" "0" "2943" "0" "c.2943del" "r.(?)" "p.(Gly982Valfs*14)" "34" "0000152381" "00024106" "70" "2965" "0" "2982" "0" "c.2965_2982del" "r.(?)" "p.(Asp989_Gly994del)" "34" "0000152382" "00024106" "10" "2979" "0" "2979" "0" "c.2979T>G" "r.(?)" "p.(=)" "34" "0000152383" "00024106" "90" "3008" "0" "3008" "0" "c.3008G>A" "r.(?)" "p.(Gly1003Glu)" "34" "0000152384" "00024106" "90" "3016" "1" "3016" "1" "c.3016+1G>T" "r.spl" "p.?" "34i" "0000152385" "00024106" "90" "3016" "2" "3016" "2" "c.3016+2dup" "r.spl" "p.?" "34i" "0000152386" "00024106" "90" "3106" "1" "3106" "1" "c.3106+1G>A" "r.spl" "p.?" "35i" "0000152387" "00024106" "90" "3017" "-1" "3246" "1" "c.(3016+1_3017-1)_(3246+1_3247-1)dup" "r.(?)" "p.(Glu1084Profs*13)" "34i_36i" "0000152388" "00024106" "90" "3018" "0" "3106" "0" "c.3018_3106dup" "r.(?)" "p.(Gly1036Valfs*15)" "35" "0000152389" "00024106" "90" "3061" "0" "3061" "0" "c.3061G>A" "r.(?)" "p.(Gly1021Arg)" "35" "0000152390" "00024106" "90" "3088" "0" "3088" "0" "c.3088G>A" "r.(?)" "p.(Gly1030Ser)" "35" "0000152391" "00024106" "70" "3106" "4" "3106" "4" "c.3106+4del" "r.spl?" "p.?" "35i" "0000152392" "00024106" "90" "3106" "4" "3106" "9" "c.3106+4_3106+9delinsGTCCA" "r.spl" "p.?" "35i" "0000152393" "00024106" "90" "3112" "0" "3112" "0" "c.3112C>T" "r.(?)" 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"p.(Gly1060*)" "36" "0000152404" "00024106" "90" "3181" "0" "3181" "0" "c.3181C>T" "r.(?)" "p.(Gln1061*)" "36" "0000152405" "00024106" "90" "3196" "0" "3196" "0" "c.3196G>A" "r.(?)" "p.(Gly1066Ser)" "36" "0000152406" "00024106" "90" "3197" "0" "3197" "0" "c.3197G>A" "r.(?)" "p.(Gly1066Asp)" "36" "0000152407" "00024106" "90" "3197" "0" "3197" "0" "c.3197G>C" "r.(?)" "p.(Gly1066Ala)" "36" "0000152408" "00024106" "90" "3223" "0" "3246" "2" "c.3223_3246+2dup" "r.spl?" "p.(Gly1083Valfs*78)" "36" "0000152409" "00024106" "90" "3247" "-1" "3604" "1" "c.(3246+1_3247-1)_(3604+1_3605-1)del" "r.(?)" "p.(Gly1083Alafs*103)" "36i_40i" "0000152410" "00024106" "90" "3247" "-1" "4706" "1" "c.(3246+1_3247-1)_(4706+1_4707-1)del" "r.(?)" "p.(Gly1083delfs)" "36i_50i" "0000152411" "00024106" "90" "3247" "-1" "5077" "0" "c.(3246+1_3247-1)_(*1_?)del" "r.(?)" "p.(Gly1083delfs)" "36i_53_" "0000152412" "00024106" "90" "3311" "0" "3311" "0" "c.3311G>A" "r.(?)" "p.(Gly1104Asp)" "37" "0000152413" "00024106" "90" "3250" "0" "3250" "0" "c.3250G>T" "r.(?)" "p.(Glu1084*)" "37" "0000152414" "00024106" "90" "3275" "0" "3275" "0" "c.3275G>A" "r.(?)" "p.(Gly1092Glu)" "37" "0000152415" "00024106" "90" "3293" "0" "3293" "0" "c.3293G>T" "r.(?)" "p.(Gly1098Val)" "37" "0000152416" "00024106" "90" "3301" "0" "3301" "0" "c.3301G>T" "r.(?)" "p.(Gly1101*)" "37" "0000152417" "00024106" "90" "3302" "0" "3302" "0" "c.3302G>A" "r.(?)" "p.(Gly1101Glu)" "37" "0000152418" "00024106" "90" "3310" "0" "3310" "0" "c.3310G>C" "r.(?)" "p.(Gly1104Arg)" "37" "0000152419" "00024106" "90" "3326" "0" "3327" "0" "c.3326_3327insT" "r.(?)" "p.(Gly1110Argfs*27)" "37" "0000152420" "00024106" "90" "3329" "0" "3329" "0" "c.3329G>A" "r.(?)" "p.(Gly1110Glu)" "37" "0000152421" "00024106" "90" "3360" "0" "3360" "0" "c.3360dup" "r.(?)" "p.(Pro1121Serfs*16)" "37" "0000152422" "00024106" "90" "3368" "0" "3368" "0" "c.3368dup" "r.(?)" "p.(Gly1125Argfs*12)" "37" "0000152423" "00024106" "90" "3392" "0" "3392" "0" "c.3392del" "r.(?)" "p.(Gly1131Aspfs*21)" "38" "0000152424" "00024106" "90" "3427" "0" "3427" "0" "c.3427G>A" "r.(?)" "p.(Gly1143Ser)" "38" "0000152425" "00024106" "90" "3427" "0" "3427" "0" "c.3427G>T" "r.(?)" "p.(Gly1143Cys)" "38" "0000152426" "00024106" "90" "3428" "0" "3428" "0" "c.3428G>T" "r.(?)" "p.(Gly1143Val)" "38" "0000152427" "00024106" "90" "3446" "0" "3446" "0" "c.3446G>T" "r.(?)" "p.(Gly1149Val)" "38" "0000152428" "00024106" "70" "3454" "0" "3454" "0" "c.3454G>A" "r.spl?" "p.(Gly1152Ser)" "38" "0000152429" "00024106" "90" "3458" "0" "3458" "0" "c.3458del" "r.(?)" "p.(Gly1153Valfs*152)" "39" "0000152430" "00024106" "90" "3464" "0" "3464" "0" "c.3464del" "r.(?)" "p.(His1156Ilefs)" "39" "0000152431" "00024106" "90" "3464" "0" "3464" "0" "c.3464del" "r.(?)" "p.(His1156Ilefs)" "39" "0000152432" "00024106" "90" "3475" "0" "3475" "0" "c.3475C>T" "r.(?)" "p.(Gln1159*)" "39" "0000152433" "00024106" "90" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Gly1161Glu)" "39" "0000152434" "00024106" "90" "3491" "0" "3491" "0" "c.3491G>A" "r.(?)" "p.(Gly1164Asp)" "39" "0000152435" "00024106" "90" "3491" "0" "3491" "0" "c.3491G>A" "r.(?)" "p.(Gly1164Asp)" "39" "0000152436" "00024106" "90" "3493" "0" "3493" "0" "c.3493G>A" "r.(?)" "p.(Glu1165Lys)" "39" "0000152437" "00024106" "90" "3499" "0" "3505" "0" "c.3499_3505delinsATA" "r.(?)" "p.(Gly1167Ilefs*137)" "39" "0000152438" "00024106" "90" "3508" "0" "3508" "0" "c.3508G>A" "r.(?)" "p.(Gly1170Ser)" "39" "0000152439" "00024106" "90" "3508" "0" "3508" "0" "c.3508G>C" "r.(?)" "p.(Gly1170Arg)" "39" "0000152440" "00024106" "10" "3519" "0" "3519" "0" "c.3519T>G" "r.(?)" "p.(=)" "39" "0000152441" "00024106" "90" "3544" "0" "3544" "0" "c.3544G>A" "r.(?)" "p.(Gly1182Ser)" "39" "0000152442" "00024106" "90" "3584" "0" "3584" "0" "c.3584dup" "r.(?)" "p.(Gly1196Trpfs*11)" "40" "0000152443" "00024106" "90" "3586" "0" "3586" "0" "c.3586G>T" "r.(?)" "p.(Gly1196*)" "40" "0000152444" "00024106" "90" "3604" "2" "3604" "2" "c.3604+2T>C" "r.spl" "p.?" "40i" "0000152445" "00024106" "90" "3604" "3" "3604" "4" "c.3604+3_3604+4delinsGTT" "r.spl" "p.?" "40i" "0000152446" "00024106" "90" "3659" "0" "3659" "0" "c.3659G>A" "r.(?)" "p.(Gly1220Asp)" "41" "0000152447" "00024106" "90" "3667" "0" "3667" "0" "c.3667G>A" "r.(?)" "p.(Gly1223Ser)" "41" "0000152448" "00024106" "90" "3677" "0" "3677" "0" "c.3677del" "r.(?)" "p.(Gly1226Alafs*79)" "41" "0000152449" "00024106" "90" "3676" "0" "3676" "0" "c.3676G>T" "r.(?)" "p.(Gly1226Cys)" "41" "0000152450" "00024106" "90" "3685" "0" "3685" "0" "c.3685G>A" "r.(?)" "p.(Gly1229Ser)" "41" "0000152451" "00024106" "90" "3685" "0" "3685" "0" "c.3685G>A" "r.(?)" "p.(Gly1229Ser)" "41" "0000152452" "00024106" "90" "3686" "0" "3686" "0" "c.3686G>A" "r.(?)" 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"p.(Gly1270Arg)" "43" "0000152463" "00024106" "90" "3836" "0" "3836" "0" "c.3836del" "r.(?)" "p.(Gly1279Valfs*26)" "44" "0000152464" "00024106" "90" "3836" "0" "3836" "0" "c.3836G>A" "r.(?)" "p.(Gly1279Asp)" "44" "0000152465" "00024106" "90" "3845" "0" "3845" "0" "c.3845G>T" "r.(?)" "p.(Gly1282Val)" "44" "0000152466" "00024106" "90" "3891" "0" "3891" "0" "c.3891dup" "r.(?)" "p.(Leu1298Alafs*19)" "44" "0000152467" "00024106" "90" "3893" "0" "3894" "0" "c.3893_3894delinsC" "r.(?)" "p.(Leu1298Profs*7)" "44" "0000152468" "00024106" "90" "3922" "0" "3922" "0" "c.3922C>T" "r.(?)" "p.(Gln1308*)" "44" "0000152469" "00024106" "90" "3932" "0" "3932" "0" "c.3932del" "r.(?)" "p.(Pro1311Glnfs*15)" "44" "0000152470" "00024106" "70" "3942" "0" "3942" "0" "c.3942G>A" "r.spl?" "p.(Gln1314=)" "44" "0000152471" "00024106" "30" "3957" "0" "3957" "0" "c.3957G>T" "r.(?)" "p.(Arg1319=)" "45" "0000152472" "00024106" "90" "4015" "1" "4015" "1" "c.4015+1G>T" "r.spl" "p.?" "45i" "0000152473" "00024106" "90" "4023" "0" "4026" "0" "c.4023_4026dup" "r.spl?" "p.(Pro1343ArgfsTer12)" "45" "0000152474" "00024106" "90" "4045" "0" "4045" "0" "c.4045del" "r.(?)" "p.(Ser1343f*)" "46" "0000152475" "00024106" "90" "4052" "0" "4052" "0" "c.4052G>A" "r.(?)" "p.(Gly1351Asp)" "46" "0000152476" "00024106" "90" "4057" "0" "4057" "0" "c.4057G>T" "r.(?)" "p.(Glu1353*)" "46" "0000152477" "00024106" "90" "4063" "0" "4063" "0" "c.4063del" "r.(?)" "p.(?)" "46" "0000152478" "00024106" "90" "4087" "1" "4087" "1" "c.4087+1G>A" "r.spl" "p.?" "46i" "0000152479" "00024106" "90" "4088" "-1" "4528" "1" "c.(4087+1_4088-1)_(4528+1_4529-1)del" "r.(?)" "p.(?)" "46i_49i" "0000152480" "00024106" "90" "4106" "0" "4106" "0" "c.4106del" "r.(?)" "p.(?)" "47" "0000152481" "00024106" "90" "4107" "0" "4107" "0" "c.4107del" "r.(?)" "p.(?)" "47" "0000152482" "00024106" "50" "4216" "0" "4226" "0" "c.4216_4226delins(22)" "r.?" "p.?" "47" "0000152483" "00024106" "90" "4246" "0" "4246" "0" "c.4246C>T" "r.(?)" "p.(Arg1416Cys)" "48" "0000152484" "00024106" "10" "4255" "0" "4255" "0" "c.4255C>T" "r.(?)" "p.(?)" "48" "0000152485" "00024106" "90" "4282" "0" "4282" "0" "c.4282C>T" "r.(?)" "p.(Arg1422Cys)" "48" "0000152486" "00024106" "90" "4293" "0" "4293" "0" "c.4293C>T" "r.(?)" "p.(Asp1431Asp)" "48" "0000152487" "00024106" "90" "4309" "0" "4309" "0" "c.4309C>T" "r.(?)" "p.(Gln1437*)" "48" "0000152488" "00024106" "90" "4315" "0" "4316" "0" "c.4315_4316insTGGAAATAG" "r.spl" "p.?" "48" "0000152489" "00024106" "90" "4315" "1" "4315" "1" "c.4315+1G>A" "r.spl" "p.?" "48i" "0000152490" "00024106" "10" "4316" "-11" "4316" "-11" "c.4316-11C>A" "r.(?)" "p.(?)" "48i" "0000152491" "00024106" "90" "4324" "0" "4324" "0" "c.4324G>A" "r.(?)" "p.(Gly1442Ser)" "49" "0000152492" "00024106" "90" "4360" "0" "4360" "0" "c.4360G>A" "r.(?)" "p.(Gly1454Ser)" "49" "0000152493" "00024106" "90" "4324" "0" "4324" "0" "c.4324G>T" "r.(?)" "p.(Gly1442Cys)" "49" "0000152494" "00024106" "90" "4343" "0" "4343" "0" "c.4343G>C" "r.(?)" "p.(Gly14482Ala)" "49" "0000152495" "00024106" "90" "4344" "0" "4344" "0" "c.4344del" "r.(?)" "p.(?)" "49" "0000152496" "00024106" "90" "4352" "0" "4352" "0" "c.4352G>A" "r.(?)" "p.(Gly1451Glu)" "49" "0000152497" "00024106" "90" "4355" "0" "4355" "0" "c.4355del" "r.(?)" "p.(?)" "49" "0000152498" "00024106" "90" "4395" "0" "4395" "0" "c.4395del" "r.(?)" "p.(?)" "49" "0000152499" "00024106" "90" "4415" "0" "4416" "0" "c.4415_4416delinsCT" "r.(?)" "p.(Arg1466Pro)" "49" "0000152500" "00024106" "90" "4423" "0" "4423" "0" "c.4423C>T" "r.(?)" "p.(Gln1475*)" "49" "0000152501" "00024106" "90" "4424" "0" "4424" "0" "c.4424del" "r.(?)" "p.(?)" "49" "0000152502" "00024106" "90" "4462" "0" "4462" "0" "c.4462C>T" "r.(?)" "p.(Gln1488*)" "49" "0000152503" "00024106" "90" "4475" "0" "4475" "0" "c.4475G>A" "r.(?)" "p.(Gly1492Asp)" "49" "0000152504" "00024106" "90" "4475" "0" "4475" "0" "c.4475G>C" "r.(?)" "p.(Gly1492Ala)" "49" "0000152505" "00024106" "90" "4484" "0" "4485" "0" "c.4484_4485del" "r.(?)" "p.(Leu1489ProfsAsn1495*)" "49" "0000152506" "00024106" "90" "4481" "0" "4481" "0" "c.4481C>T" "r.(?)" "p.(Ser1494Phe)" "49" "0000152507" "00024106" "90" "4493" "0" "4493" "0" "c.4493T>C" "r.(?)" "p.(Val1498Ala)" "49" "0000152508" "00024106" "90" "4495" "0" "4495" "0" "c.4495C>T" "r.(?)" "p.(Gln1499*)" "49" "0000152509" "00024106" "90" "4508" "0" "4508" "0" "c.4508del" "r.(?)" "p.(?)" "49" "0000152510" "00024106" "90" "4528" "1" "4528" "1" "c.4528+1G>A" "r.spl" "p.?" "49i" "0000152511" "00024106" "70" "4528" "4" "4528" "4" "c.4528+4A>T" "r.spl?" "p.?" "49i" "0000152512" "00024106" "90" "4533" "0" "4546" "0" "c.4533_4546delinsTTTCAGCT" "r.(?)" "p.(?)" "50" "0000152513" "00024106" "90" "4550" "0" "4550" "0" "c.4550G>A" "r.(?)" "p.(Arg1517His)" "50" "0000152514" "00024106" "90" "4563" "0" "4563" "0" "c.4563del" "r.(?)" "p.(?)" "50" "0000152515" "00024106" "90" "4575" "0" "4575" "0" "c.4575G>A" "r.(?)" "p.(Met1525Ile)" "50" "0000152516" "00024106" "90" "4586" "0" "4586" "0" "c.4586T>C" "r.(?)" "p.(Ile1529Thr)" "50" "0000152517" "00024106" "90" "4629" "0" "4629" "0" "c.4629C>A" "r.(?)" "p.(Tyr1543*)" "50" "0000152518" "00024106" "90" "4632" "0" "4632" "0" "c.4632G>A" "r.(?)" "p.(Trp1544*)" "50" "0000152519" "00024106" "90" "4632" "0" "4632" "0" "c.4632G>A" "r.(?)" "p.(Trp1544*)" "50" "0000152520" "00024106" "90" "4632" "0" "4632" "0" "c.4632G>T" "r.(?)" "p.(Trp1544Cys)" "50" "0000152521" "00024106" "90" "4705" "0" "4705" "0" "c.4705C>T" "r.(?)" "p.(Arg1569*)" "50" "0000152522" "00024106" "90" "4705" "0" "4705" "0" "c.4705C>T" "r.(?)" "p.(Arg1569*)" "50" "0000152523" "00024106" "70" "4706" "0" "4706" "0" "c.4706G>A" "r.spl?" "p.(Arg1569Gln)" "50" "0000152524" "00024106" "70" "4706" "0" "4706" "0" "c.4706G>A" "r.spl?" "p.(Arg1569Gln)" "50" "0000152525" "00024106" "90" "4706" "1" "4706" "1" "c.4706+1G>A" "r.spl" "p.?" "50i" "0000152526" "00024106" "70" "4706" "3" "4706" "3" "c.4706+3A>G" "r.spl?" "p.?" "50i" "0000152527" "00024106" "90" "4707" "-1" "4707" "-1" "c.4707-1G>A" "r.spl" "p.?" "50i" "0000152528" "00024106" "90" "4709" "0" "4709" "0" "c.4709G>A" "r.(?)" "p.(Cys1570Tyr)" "50" "0000152529" "00024106" "90" "4717" "0" "4717" "0" "c.4717T>C" "r.(?)" "p.(Cys1573Arg)" "51" "0000152530" "00024106" "90" "4757" "0" "4757" "0" "c.4757C>G" "r.(?)" "p.(Thr1586Arg)" "51" "0000152531" "00024106" "90" "4796" "0" "4796" "0" "c.4796T>C" "r.(?)" "p.(Leu1599Pro)" "51" "0000152532" "00024106" "90" "4811" "0" "4811" "0" "c.4811C>T" "r.(?)" "p.(Ser1604Phe)" "51" "0000152533" "00024106" "90" "4819" "0" "4819" "0" "c.4819A>G" "r.(?)" "p.(Met1607Val)" "51" "0000152534" "00024106" "90" "4821" "1" "4821" "1" "c.4821+1G>A" "r.spl" "p.?" "51i" "0000152535" "00024106" "70" "4821" "3" "4821" "3" "c.4821+3A>G" "r.spl?" "p.?" "51i" "0000152536" "00024106" "10" "4821" "51" "4821" "109" "c.4821+51_4821+109del" "r.(=)" "p.(=)" "51i" "0000152537" "00024106" "10" "4822" "-12" "4822" "-12" "c.4822-12T>C" "r.(?)" "p.(?)" "51i" "0000152538" "00024106" "90" "4837" "0" "4837" "0" "c.4837del" "r.(?)" "p.(Ala1613Glnfs*8)" "51" "0000152539" "00024106" "90" "4877" "0" "4877" "0" "c.4877G>C" "r.(?)" "p.(Cys1626Ser)" "52" "0000152540" "00024106" "90" "4895" "0" "4895" "0" "c.4895C>T" "r.(?)" "p.(Ser1632Leu)" "52" "0000152541" "00024106" "90" "4913" "0" "4913" "0" "c.4913G>A" "r.(?)" "p.(Cys1638Tyr)" "52" "0000152542" "00024106" "90" "5019" "0" "5019" "0" "c.5019del" "r.(?)" "p.(Ala1674Glnfs*4)" "53" "0000152543" "00024106" "99" "4943" "0" "4951" "0" "c.4943_4951delins(13)" "r.?" "p.?" "52" "0000152544" "00024106" "90" "4948" "0" "4948" "0" "c.4948T>A" "r.(?)" "p.(Ser1650Thr)" "52" "0000152545" "00024106" "90" "4948" "0" "4948" "0" "c.4948T>G" "r.(?)" "p.(Ser1650Ala)" "52" "0000152546" "00024106" "90" "4953" "0" "4954" "0" "c.4953_4954del" "r.(?)" "p.(Tyr1651*)" "52" "0000152547" "00024106" "90" "4960" "0" "4960" "0" "c.4960del" "r.(?)" "p.(Trp1654Glyfs*5)" "52" "0000152548" "00024106" "90" "4982" "0" "4982" "0" "c.4982C>A" "r.(?)" "p.(Ser1661*)" "52" "0000152549" "00024106" "90" "5065" "0" "5065" "0" "c.5065A>T" "r.(?)" "p.(Lys1689*)" "53" "0000152550" "00024106" "90" "5019" "0" "5019" "0" "c.5019del" "r.(?)" "p.(Ala1674Glnfs*4)" "53" "0000152551" "00024106" "90" "5038" "0" "5038" "0" "c.5038C>T" "r.(?)" "p.(Arg1680*)" "53" "0000152552" "00024106" "90" "5038" "0" "5038" "0" "c.5038C>T" "r.(?)" "p.(Arg1680*)" "53" "0000152553" "00024106" "90" "5047" "0" "5047" "0" "c.5047C>T" "r.(?)" "p.(Arg1683*)" "53" "0000152554" "00024106" "90" "5047" "0" "5047" "0" "c.5047C>T" "r.(?)" "p.(Arg1683*)" "53" "0000152555" "00024106" "90" "5047" "0" "5047" "0" "c.5047C>T" "r.(?)" "p.(Arg1683*)" "53" "0000152556" "00024106" "90" "5048" "0" "5048" "0" "c.5048G>A" "r.(?)" "p.(Arg1683Gln)" "53" "0000152557" "00024106" "90" "5048" "0" "5048" "0" "c.5048G>C" "r.(?)" "p.(Arg1683Pro)" "53" "0000152558" "00024106" "90" "5048" "0" "5048" "0" "c.5048G>T" "r.(?)" "p.(Arg1683Leu)" "53" "0000152559" "00024106" "90" "5048" "0" "5048" "0" "c.5048G>T" "r.(?)" "p.(Arg1683Leu)" "53" "0000152560" "00024106" "90" "5051" "0" "5051" "0" "c.5051G>A" "r.(?)" "p.(Cys1684Tyr)" "53" "0000152561" "00024106" "90" "5052" "0" "5052" "0" "c.5052T>A" "r.(?)" "p.(Cys1684*)" "53" "0000152562" "00024106" "90" "5038" "0" "5038" "0" "c.5038G>T" "r.(?)" "p.(Val1686Leu)" "53" "0000152563" "00024106" "90" "5060" "0" "5060" "0" "c.5060G>A" "r.(?)" "p.(Cys1687Tyr)" "53" "0000152564" "00024106" "90" "5066" "0" "5066" "0" "c.5066A>G" "r.(?)" "p.(Lys1689Arg)" "53" "0000152565" "00024106" "90" "5066" "0" "5066" "0" "c.5066G>T" "r.(?)" "p.(Lys1689Asn)" "53" "0000152566" "00024106" "10" "5125" "0" "5126" "0" "c.*49_*50dup" "r.(?)" "p.(=)" "53" "0000152567" "00024106" "90" "-38333" "0" "81" "1917" "c.-38333_81+1917del" "r.0?" "p.0?" "_1i" "0000152568" "00024106" "50" "-38333" "0" "81" "1917" "c.-38333_81+1917del" "r.0?" "p.0?" "_1i" "0000152569" "00024106" "70" "2423" "0" "2423" "0" "c.2423del" "r.(?)" "p.(Gly808Aspfs*11)" "30" "0000152570" "00024106" "70" "1339" "6" "1339" "6" "c.1339+6C>G" "r.(?)" "p.(?)" "20i" "0000152571" "00024106" "70" "4462" "0" "4462" "0" "c.4462C>T" "r.(?)" "p.(Gln1488*)" "49" "0000152572" "00024106" "70" "4342" "0" "4342" "0" "c.4342G>C" "r.(?)" "p.(Gly1448Arg)" "49" "0000152573" "00024106" "70" "4342" "0" "4342" "0" "c.4342G>C" "r.(?)" "p.(Gly1448Arg)" "49" "0000152574" "00024106" "70" "590" "0" "590" "0" "c.590del" "r.(?)" "p.(Pro197Glnfs*6)" "10" "0000152575" "00024106" "70" "3943" "-1" "4216" "1" "c.(3942+1_3943-1)_(4216+1_4217-1)del" "r.(?)" "p.(?)" "44i_47i" "0000152576" "00024106" "70" "82" "-1" "5077" "0" "c.(81+1_82-1)_(*1_?)del" "r.?" "p.?" "1i_53_" "0000152577" "00024106" "70" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Gly239Arg)" "13" "0000152578" "00024106" "70" "2815" "0" "2815" "0" "c.2815G>T" "r.(?)" "p.(Glu939*)" "33" "0000152579" "00024106" "70" "2511" "0" "2555" "0" "c.2511_2555del" "r.(?)" "p.(His839_Leu853del)" "31" "0000152580" "00024106" "70" "4315" "1" "4315" "1" "c.4315+1G>A" "r.spl" "p.?" "48i" "0000152581" "00024106" "90" "-1" "0" "780" "1" "c.(?_-1)_(780+1_781-1)del" "r.0?" "p.0?" "_1_13i" "0000152582" "00024106" "70" "2510" "-1" "2525" "0" "c.2510-1_2525del" "r.(?)" "p.(?)" "30i_31" "0000152583" "00024106" "90" "81" "24893" "2396" "-1822" "c.(81+24198_81+24893)_(2396-1822_2396-30)del" "r.?" "p.?" "1i_29i" "0000152584" "00024106" "70" "4821" "1" "4821" "1" "c.4821+1G>A" "r.spl" "p.?" "51i" "0000152585" "00024106" "70" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "18" "0000152586" "00024106" "70" "1844" "0" "1844" "0" "c.1844G>A" "r.(?)" "p.(Gly615Glu)" "25" "0000152587" "00024106" "70" "2633" "0" "2633" "0" "c.2633G>T" "r.(?)" "p.(Gly878Val)" "31" "0000152588" "00024106" "70" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Gly153Asp)" "8" "0000152589" "00024106" "70" "1718" "0" "1718" "0" "c.1718G>A" "r.(?)" "p.(Gly573Asp)" "24" "0000152590" "00024106" "70" "1165" "1" "1165" "1" "c.1165+1G>A" "r.(?)" "p.(?)" "19i" "0000152591" "00024106" "90" "1780" "-1" "1780" "-1" "c.1780-1G>T" "r.(?)" "p.(?)" "24" "0000152592" "00024106" "90" "1033" "-6" "1033" "-6" "c.1033-6A>G" "r.(?)" "p.(?)" "18" "0000152593" "00024106" "90" "2395" "1" "2395" "1" "c.2395+1G>A" "r.(?)" "p.(?)" "29" "0000152594" "00024106" "90" "2741" "0" "2741" "0" "c.2741G>A" "r.(?)" "p.(Gly914Asp)" "32" "0000152595" "00024106" "90" "82" "0" "82" "0" "c.82G>T" "r.(?)" "p.(Ala28Ser)" "2" "0000152596" "00024106" "90" "1010" "0" "1010" "0" "c.1010G>T" "r.(?)" "p.(Gly337Val)" "18" "0000152597" "00024106" "90" "5047" "0" "5047" "0" "c.5047C>T" "r.(?)" "p.(Arg1683*)" "53" "0000152598" "00024106" "90" "4087" "0" "4087" "0" "c.4087G>A" "r.spl?" "p.(Gly1363Ser)" "46" "0000152599" "00024106" "90" "4774" "0" "4774" "0" "c.4774T>C" "r.spl" "p.(Cys1592Arg)" "51" "0000152600" "00024106" "90" "4706" "0" "4706" "0" "c.4706G>A" "r.spl?" "p.(Arg1569Gln)" "50" "0000152601" "00024106" "90" "610" "-2" "610" "-2" "c.610-2A>G" "r.610_628del" "p.?" "10i" "0000152602" "00024106" "90" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000152603" "00024106" "90" "1856" "0" "1856" "0" "c.1856C>T" "r.1780_1885del" "p.(Pro619Leu)" "25" "0000152604" "00024106" "90" "1948" "1" "1948" "1" "c.1948+1G>A" "r.1780_1948del" "p.?" "22i" "0000152605" "00024106" "97" "529" "0" "529" "0" "c.529G>C" "r.529G>C" "p.Gly177Arg" "9" "0000152606" "00024106" "90" "796" "0" "796" "0" "c.796C>T" "r.796c>u" "p.Arg266*" "14" "0000152607" "00024106" "30" "1331" "0" "1331" "0" "c.1331T>G" "r.1331u>g" "p.Ile444Ser" "20" "0000152608" "00024106" "30" "1331" "0" "1331" "0" "c.1331T>G" "r.1331u>g" "p.Ile444Ser" "20" "0000152609" "00024106" "90" "866" "0" "866" "0" "c.866G>T" "r.(?)" "p.(Gly289Val)" "15" "0000152610" "00024106" "50" "-13" "0" "-13" "0" "c.-13G>A" "r.(?)" "p.(=)" "1" "0000152611" "00024106" "30" "2858" "0" "2858" "0" "c.2858G>T" "r.(?)" "p.(Gly953Val)" "33" "0000152612" "00024106" "90" "3472" "0" "3472" "0" "c.3472G>A" "r.(?)" "p.(Gly1158Arg)" "39" "0000152613" "00024106" "90" "3632" "0" "3632" "0" "c.3632G>A" "r.(?)" "p.(Gly1211Glu)" "41" "0000152614" "00024106" "90" "4061" "0" "4061" "0" "c.4061G>A" "r.(?)" "p.(Gly1354Glu)" "46" "0000152615" "00024106" "50" "5023" "0" "5023" "0" "c.5023G>A" "r.(?)" "p.(Gly1675Arg)" "53" "0000152616" "00024106" "50" "4994" "0" "4994" "0" "c.4994G>A" "r.spl?" "p.(Ser1665Asn)" "52" "0000152617" "00024106" "30" "1095" "0" "1095" "0" "c.1095G>C" "r.1095g>c" "p.=" "19" "0000152618" "00024106" "30" "2055" "0" "2055" "0" "c.2055T>C" "r.2055c>u" "p.=" "27" "0000152619" "00024106" "30" "3513" "0" "3513" "0" "c.3513A>G" "r.3513a>g" "p.=" "39" "0000152620" "00024106" "30" "2349" "0" "2349" "0" "c.2349G>A" "r.2349g>a" "p.=" "29" "0000152621" "00024106" "50" "973" "0" "973" "0" "c.973G>A" "r.973g>a" "p.Ile703Val" "27" "0000152622" "00024106" "90" "1208" "0" "1208" "0" "c.1208G>T" "r.1208g>u" "p.Gly403Val" "20" "0000152623" "00024106" "30" "2858" "0" "2858" "0" "c.2858G>T" "r.2858g>u" "p.Gly953Val" "33" "0000152624" "00024106" "30" "2349" "0" "2349" "0" "c.2349G>A" "r.2349g>a" "p.=" "29" "0000152625" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152626" "00024106" "10" "81" "2106" "81" "2106" "c.81+2106G>C" "r.(?)" "p.(=)" "1i" "0000152627" "00024106" "10" "81" "47476" "81" "47476" "c.81+47476G>A" "r.(?)" "p.(=)" "1i" "0000152628" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152629" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152630" "00024106" "10" "82" "-25537" "82" "-25537" "c.82-25537C>G" "r.(?)" "p.(=)" "1i" "0000152631" "00024106" "70" "3374" "-3346" "3374" "-3346" "c.3374-3346A>G" "r.spl?" "p.(=)" "37i" "0000152632" "00024106" "10" "82" "-25805" "82" "-25805" "c.82-25805G>A" "r.(?)" "p.(=)" "1i" "0000152633" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152634" "00024106" "70" "3374" "-3346" "3374" "-3346" "c.3374-3346A>G" "r.spl?" "p.(=)" "37i" "0000152635" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152636" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152637" "00024106" "10" "81" "2106" "81" "2106" "c.81+2106G>C" "r.(?)" "p.(=)" "1i" "0000152638" "00024106" "10" "81" "21692" "81" "21692" "c.81+21692A>G" "r.(?)" "p.(=)" "1i" "0000152639" "00024106" "10" "82" "-25805" "82" "-25805" "c.82-25805G>A" "r.(?)" "p.(=)" "1i" "0000152640" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152641" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152642" "00024106" "10" "81" "2106" "81" "2106" "c.81+2106G>C" "r.(?)" "p.(=)" "1i" "0000152643" "00024106" "10" "81" "21692" "81" "21692" "c.81+21692A>G" "r.(?)" "p.(=)" "1i" "0000152644" "00024106" "10" "82" "-25805" "82" "-25805" "c.82-25805G>A" "r.(?)" "p.(=)" "1i" "0000152645" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152646" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152647" "00024106" "10" "81" "2106" "81" "2106" "c.81+2106G>C" "r.(?)" "p.(=)" "1i" "0000152648" "00024106" "10" "81" "21692" "81" "21692" "c.81+21692A>G" "r.(?)" "p.(=)" "1i" "0000152649" "00024106" "10" "82" "-25805" "82" "-25805" "c.82-25805G>A" "r.(?)" "p.(=)" "1i" "0000152650" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152651" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152652" "00024106" "10" "82" "-25805" "82" "-25805" "c.82-25805G>A" "r.(?)" "p.(=)" "1i" "0000152653" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152654" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152655" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152656" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152657" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152658" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152659" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152660" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152661" "00024106" "10" "82" "-25537" "82" "-25537" "c.82-25537C>G" "r.(?)" "p.(=)" "1i" "0000152662" "00024106" "10" "81" "21692" "81" "21692" "c.81+21692A>G" "r.(?)" "p.(=)" "1i" "0000152663" "00024106" "10" "82" "-25805" "82" "-25805" "c.82-25805G>A" "r.(?)" "p.(=)" "1i" "0000152664" "00024106" "10" "81" "21692" "81" "21692" "c.81+21692A>G" "r.(?)" "p.(=)" "1i" "0000152665" "00024106" "10" "81" "21692" "81" "21692" "c.81+21692A>G" "r.(?)" "p.(=)" "1i" "0000152666" "00024106" "10" "81" "12357" "81" "12357" "c.81+12357A>G" "r.(?)" "p.(=)" "1i" "0000152667" "00024106" "10" "81" "8869" "81" "8869" "c.81+8869C>T" "r.(?)" "p.(=)" "1i" "0000152668" "00024106" "10" "82" "-25537" "82" "-25537" "c.82-25537C>G" "r.(?)" "p.(=)" "1i" "0000152669" "00024106" "10" "81" "12181" "81" "12181" "c.81+12181T>C" "r.(?)" "p.(=)" "1i" "0000152670" "00024106" "10" "81" "12592" "81" "12592" "c.81+12592G>C" "r.(?)" "p.(=)" "1i" "0000152671" "00024106" "10" "81" "12686926" "81" "12686926" "c.81+12686926T>C" "r.(?)" "p.(=)" "1i" "0000152672" "00024106" "10" "81" "21692" "81" "21692" "c.81+21692A>G" "r.(?)" "p.(=)" "1i" "0000152673" "00024106" "10" "82" "-25805" "82" "-25805" "c.82-25805G>A" "r.(?)" "p.(=)" "1i" "0000152674" "00024106" "10" "1032" "54" "1032" "54" "c.1032+54T>C" "r.(?)" "p.(?)" "18i" "0000152675" "00024106" "10" "1032" "56" "1032" "56" "c.1032+56T>A" "r.(?)" "p.(?)" "18i" "0000152676" "00024106" "10" "1032" "56" "1032" "56" "c.1032+56T>A" "r.(?)" "p.(?)" "18i" "0000152677" "00024106" "90" "4798" "0" "4799" "0" "c.4798_4799del" "r.(?)" "p.(Trp1600Aspfs*45)" "51" "0000152680" "00024106" "30" "1095" "0" "1095" "0" "c.1095G>C" "r.1095g>c" "p.=" "19" "0000152681" "00024106" "30" "2055" "0" "2055" "0" "c.2055T>C" "r.2055c>u" "p.=" "27" "0000152682" "00024106" "30" "3513" "0" "3513" "0" "c.3513A>G" "r.3513a>g" "p.=" "39" "0000152683" "00024106" "30" "2349" "0" "2349" "0" "c.2349G>A" "r.2349g>a" "p.=" "29" "0000152684" "00024106" "30" "1095" "0" "1095" "0" "c.1095G>C" "r.1095g>c" "p.=" "19" "0000152685" "00024106" "30" "2055" "0" "2055" "0" "c.2055T>C" "r.2055c>u" "p.=" "27" "0000152686" "00024106" "30" "3513" "0" "3513" "0" "c.3513A>G" "r.3513a>g" "p.=" "39" "0000152687" "00024106" "30" "4294" "0" "4294" "0" "c.4294C>T" "r.4294c>u" "p.Pro1432Ser" "46" "0000152688" "00024106" "30" "2349" "0" "2349" "0" "c.2349G>A" "r.2349g>a" "p.=" "29" "0000152689" "00024106" "90" "1340" "-1" "5077" "0" "c.(1339+1_1340-1)_(*1_?)del" "-" "-" "20i_53_" "0000152690" "00024106" "90" "2760" "0" "2767" "19" "c.2760_2767+19dup" "r.spl?" "p.?" "32_32i" "0000169202" "00024106" "70" "3646" "0" "3646" "0" "c.3646C>T" "r.(?)" "p.(Pro1216Ser)" "" "0000244141" "00024106" "90" "187" "0" "187" "0" "c.187G>T" "r.(?)" "p.(Gly63*)" "3" "0000253633" "00024106" "10" "3029" "0" "3029" "0" "c.3029A>G" "r.(?)" "p.(Asn1010Ser)" "" "0000256194" "00024106" "50" "2302" "0" "2302" "0" "c.2302A>G" "r.(?)" "p.(Lys768Glu)" "" "0000268374" "00024106" "50" "4246" "0" "4246" "0" "c.4246C>T" "r.(?)" "p.(Arg1416Cys)" "" "0000270436" "00024106" "10" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Asp)" "" "0000270437" "00024106" "10" "1331" "0" "1331" "0" "c.1331T>G" "r.(?)" "p.(Ile444Ser)" "" "0000270438" "00024106" "10" "1517" "-44" "1517" "-44" "c.1517-44C>T" "r.(=)" "p.(=)" "" "0000270439" "00024106" "90" "1525" "0" "1525" "0" "c.1525G>T" "r.(?)" "p.(Gly509Cys)" "" "0000270440" "00024106" "10" "2041" "61" "2041" "61" "c.2041+61del" "r.(=)" "p.(=)" "" "0000270441" "00024106" "10" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(Leu685=)" "" "0000270442" "00024106" "10" "2720" "0" "2720" "0" "c.2720C>A" "r.(?)" "p.(Pro907Gln)" "" "0000270443" "00024106" "10" "276" "69" "276" "69" "c.276+69T>C" "r.(=)" "p.(=)" "" "0000270444" "00024106" "10" "3246" "131" "3246" "131" "c.3246+131C>G" "r.(=)" "p.(=)" "" "0000270445" "00024106" "10" "3519" "0" "3519" "0" "c.3519T>G" "r.(?)" "p.(Gly1173=)" "" "0000270446" "00024106" "10" "3604" "71" "3604" "71" "c.3604+71C>G" "r.(=)" "p.(=)" "" "0000270447" "00024106" "30" "3791" "-44" "3791" "-44" "c.3791-44T>A" "r.(=)" "p.(=)" "" "0000270448" "00024106" "10" "3808" "42" "3808" "42" "c.3808+42del" "r.(=)" "p.(=)" "" "0000270449" "00024106" "10" "385" "-196" "385" "-196" "c.385-196G>T" "r.(=)" "p.(=)" "" "0000270450" "00024106" "10" "81" "75" "81" "75" "c.81+75dup" "r.(=)" "p.(=)" "" "0000270451" "00024106" "10" "891" "57" "891" "58" "c.891+57_891+58del" "r.(=)" "p.(=)" "" "0000274201" "00024106" "10" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Asp)" "" "0000274202" "00024106" "50" "2215" "0" "2215" "0" "c.2215C>G" "r.(?)" "p.(Pro739Ala)" "" "0000274203" "00024106" "30" "2604" "0" "2604" "0" "c.2604C>T" "r.(?)" "p.(Pro868=)" "" "0000274204" "00024106" "50" "3647" "0" "3647" "0" "c.3647C>T" "r.(?)" "p.(Pro1216Leu)" "" "0000274205" "00024106" "30" "3808" "7" "3808" "7" "c.3808+7C>T" "r.(=)" "p.(=)" "" "0000274206" "00024106" "90" "3958" "0" "3958" "0" "c.3958C>T" "r.(?)" "p.(Pro1320Ser)" "" "0000274207" "00024106" "10" "4223" "0" "4223" "0" "c.4223C>G" "r.(?)" "p.(Thr1408Ser)" "" "0000274208" "00024106" "50" "4282" "0" "4282" "0" "c.4282C>T" "r.(?)" "p.(Arg1428Cys)" "" "0000274209" "00024106" "50" "4567" "0" "4567" "0" "c.4567C>A" "r.(?)" "p.(Pro1523Thr)" "" "0000335136" "00024106" "50" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Asp)" "" "0000335137" "00024106" "50" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Pro504Leu)" "" "0000335138" "00024106" "50" "2858" "0" "2858" "0" "c.2858G>T" "r.(?)" "p.(Gly953Val)" "" "0000335141" "00024106" "50" "3029" "0" "3029" "0" "c.3029A>G" "r.(?)" "p.(Asn1010Ser)" "" "0000335142" "00024106" "50" "4246" "0" "4246" "0" "c.4246C>T" "r.(?)" "p.(Arg1416Cys)" "" "0000335144" "00024106" "50" "5069" "0" "5069" "0" "c.5069G>C" "r.(?)" "p.(Arg1690Thr)" "" "0000344754" "00024106" "90" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Gln308Ter)" "" "0000351656" "00024106" "90" "372" "0" "373" "0" "c.372_373del" "r.(?)" "p.(Cys124*)" "6" "0000351739" "00024106" "90" "3686" "0" "3686" "0" "c.3686G>C" "r.(?)" "p.(Gly1229Ala)" "41" "0000351817" "00024106" "90" "1889" "0" "1889" "0" "c.1889del" "r.(?)" "p.(Pro630Glnfs*2)" "25" "0000351818" "00024106" "90" "1607" "0" "1607" "0" "c.1607G>T" "r.(?)" "p.(Gly536Val)" "24" "0000351825" "00024106" "90" "3681" "0" "3681" "0" "c.3681del" "r.(?)" "p.(His1228Thrfs*77)" "41" "0000352501" "00024106" "90" "2390" "0" "2390" "0" "c.2390del" "r.(?)" "p.(Pro797Glnfs*22)" "29" "0000352502" "00024106" "90" "3142" "0" "3142" "0" "c.3142G>A" "r.(?)" "p.(Gly1048Arg)" "36" "0000352591" "00024106" "70" "4706" "5" "4706" "5" "c.4706+5G>A" "r.spl?" "p.?" "50i" "0000352592" "00024106" "90" "1589" "0" "1589" "0" "c.1589del" "r.(?)" "p.(Gly530Alafs*27)" "24" "0000352593" "00024106" "90" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Gly316Ser)" "17" "0000352594" "00024106" "90" "1112" "0" "1112" "0" "c.1112dup" "r.(?)" "p.(Glu372Argfs*39)" "19" "0000352595" "00024106" "90" "2042" "-1" "2042" "-1" "c.2042-1G>A" "r.spl?" "p.?" "27i" "0000352596" "00024106" "90" "1579" "0" "1580" "0" "c.1579_1580del" "r.(?)" "p.(Gly527Ilefs*17)" "23" "0000352597" "00024106" "90" "1588" "-2" "1588" "-2" "c.1588-2A>G" "r.spl?" "p.?" "23i" "0000352598" "00024106" "90" "1985" "0" "1985" "0" "c.1985del" "r.(?)" "p.(Pro662Argfs*16)" "26" "0000352663" "00024106" "90" "1587" "5" "1587" "5" "c.1587+5G>T" "r.spl?" "p.?" "23i" "0000352664" "00024106" "90" "3008" "0" "3008" "0" "c.3008G>T" "r.(?)" "p.(Gly1003Val)" "34" "0000352707" "00024106" "90" "3338" "0" "3338" "0" "c.3338G>A" "r.(?)" "p.(Gly1113Glu)" "37" "0000352708" "00024106" "90" "3578" "0" "3578" "0" "c.3578G>A" "r.(?)" "p.(Gly1193Glu)" "40" "0000352764" "00024106" "90" "2539" "0" "2539" "0" "c.2539del" "r.(?)" "p.(Asp847Ilefs*28)" "31" "0000352807" "00024106" "90" "781" "-1" "2244" "1" "c.(780+1_781-1)_(2244+1_2245-1)dup" "r.?" "p.?" "13i_29i" "0000353017" "00024106" "50" "4548" "0" "4548" "0" "c.4548T>C" "r.(=)" "p.(=)" "50" "0000353020" "00024106" "90" "4063" "0" "4063" "0" "c.4063dup" "r.(?)" "p.(Glu1355Glyfs*24)" "44" "0000353021" "00024106" "90" "2689" "0" "2689" "0" "c.2689G>T" "r.(?)" "p.(Glu897*)" "32" "0000353040" "00024106" "90" "4994" "1" "4994" "1" "c.4994+1G>A" "r.spl" "p.?" "52i" "0000353109" "00024106" "90" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Gly400Arg)" "20" "0000353110" "00024106" "90" "989" "0" "989" "0" "c.989del" "r.(?)" "p.(Lys330Argfs*16)" "17" "0000353111" "00024106" "90" "82" "-1" "2509" "1" "c.(81+1_82-1)_(2509+1_2510-1)del" "r.?" "p.?" "1i_30i" "0000353112" "00024106" "90" "-1" "0" "3373" "1" "c.(?_-1)_(3373+1_3374-1)del" "r.0?" "p.0?" "_1_37i" "0000353650" "00024106" "90" "1746" "0" "1749" "0" "c.1746_1749dup" "r.(?)" "p.(Pro584Ilefs*17)" "24" "0000353660" "00024106" "70" "2395" "5" "2395" "5" "c.2395+5G>A" "r.spl?" "p.?" "29i" "0000353661" "00024106" "90" "1452" "0" "1452" "0" "c.1452C>A" "r.(?)" "p.(Cys484*)" "22" "0000353669" "00024106" "90" "2963" "0" "2963" "0" "c.2963G>A" "r.(?)" "p.(Gly988Glu)" "34" "0000353744" "00024106" "90" "687" "1" "687" "1" "c.687+1G>C" "r.spl" "p.?" "12i" "0000353746" "00024106" "90" "4087" "1" "4087" "1" "c.4087+1G>A" "r.spl" "p.?" "46i" "0000353747" "00024106" "70" "1369" "0" "1369" "0" "c.1369G>T" "r.(?)" "p.(Gly457Cys)" "21" "0000353751" "00024106" "70" "919" "0" "919" "0" "c.919G>A" "r.(?)" "p.(Gly307Ser)" "16" "0000353755" "00024106" "90" "4068" "0" "4087" "2" "c.4068_4087+2dup" "r.spl" "p.?" "46_46i" "0000353759" "00024106" "70" "2858" "0" "2858" "0" "c.2858G>T" "r.(?)" "p.(Gly953Val)" "33" "0000353763" "00024106" "30" "1517" "-5" "1517" "-4" "c.1517-5_1517-4dup" "r.(?)" "p.Ala770Pro" "22i" "0000353767" "00024106" "70" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Gly618Glu)" "25" "0000353772" "00024106" "50" "2147" "-12" "2147" "-12" "c.2147-12A>G" "r.(?)" "p.(=)" "27i" "0000353778" "00024106" "50" "3728" "0" "3728" "0" "c.3728C>T" "r.(?)" "p.(Pro1243Leu)" "41" "0000353781" "00024106" "90" "150" "0" "153" "0" "c.150_153del" "r.(?)" "p.(Arg50Serfs*104)" "3" "0000353782" "00024106" "50" "609" "3" "609" "3" "c.609+3A>T" "r.spl?" "p.?" "10i" "0000353786" "00024106" "70" "1139" "0" "1139" "0" "c.1139G>A" "r.(?)" "p.(Gly380Asp)" "19" "0000353787" "00024106" "50" "4079" "0" "4079" "0" "c.4079G>A" "r.(?)" "p.(Gly1360Asp)" "46" "0000353789" "00024106" "90" "1949" "0" "1949" "0" "c.1949del" "r.(?)" "p.(Gly650Valfs*10)" "26" "0000353791" "00024106" "70" "4360" "0" "4360" "0" "c.4360G>A" "r.(?)" "p.(Gly1454Ser)" "49" "0000353792" "00024106" "90" "3088" "0" "3088" "0" "c.3088G>A" "r.(?)" "p.(Gly1030Ser)" "35" "0000353795" "00024106" "70" "3490" "0" "3490" "0" "c.3490G>A" "r.(?)" "p.(Gly1164Ser)" "39" "0000353796" "00024106" "70" "3098" "0" "3098" "0" "c.3098G>A" "r.(?)" "p.(Gly1033Asp)" "35" "0000353797" "00024106" "70" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000353798" "00024106" "90" "3047" "0" "3051" "0" "c.3047_3051delinsCAGGGACCCT" "r.(?)" "p.(Gln1016Profs*7)" "35" "0000353800" "00024106" "70" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Gly273Glu)" "14" "0000353802" "00024106" "90" "1396" "0" "1396" "0" "c.1396G>T" "r.(?)" "p.(Gly466*)" "21" "0000353812" "00024106" "70" "2246" "0" "2246" "0" "c.2246G>A" "r.(?)" "p.(Gly749Asp)" "29" "0000353813" "00024106" "90" "2677" "2" "2677" "2" "c.2677+2T>G" "r.spl" "p.?" "31i" "0000353814" "00024106" "70" "1700" "0" "1700" "0" "c.1700G>C" "r.(?)" "p.(Gly567Ala)" "24" "0000353815" "00024106" "70" "3161" "0" "3161" "0" "c.3161G>A" "r.(?)" "p.(Gly1054Asp)" "36" "0000353817" "00024106" "70" "3088" "0" "3088" "0" "c.3088G>A" "r.(?)" "p.(Gly1030Ser)" "35" "0000353818" "00024106" "70" "4342" "0" "4342" "0" "c.4342G>C" "r.(?)" "p.(Gly1448Arg)" "49" "0000353825" "00024106" "70" "2858" "0" "2858" "0" "c.2858G>T" "r.(?)" "p.(Gly953Val)" "33" "0000353826" "00024106" "70" "2042" "-18" "2042" "-18" "c.2042-18A>G" "r.(?)" "p.(=)" "26i" "0000353834" "00024106" "70" "1634" "0" "1634" "0" "c.1634G>T" "r.(?)" "p.(Gly545Val)" "24" "0000353835" "00024106" "70" "4262" "0" "4262" "0" "c.4262G>A" "r.(?)" "p.(Gly1421Asp)" "48" "0000353836" "00024106" "90" "81" "1" "81" "1" "c.81+1G>C" "r.spl" "p.?" "1i" "0000353837" "00024106" "50" "4995" "-11" "4995" "-5" "c.4995-11_4995-5del" "r.(?)" "p.(=)" "52i" "0000353841" "00024106" "90" "1033" "-1" "2395" "1" "c.(1032+1_1033-1)_(2395+1_2396-1)del" "r.?" "p.?" "18i_29i" "0000353844" "00024106" "70" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000353845" "00024106" "90" "3374" "-1" "5077" "0" "c.(3373+1_3374-1)_(*1_?)del" "r.?" "p.?" "37i_53_" "0000353847" "00024106" "50" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Gly156Asp)" "9" "0000353850" "00024106" "50" "4659" "0" "4659" "0" "c.4659G>A" "r.(?)" "p.(Met1553Ile)" "50" "0000353852" "00024106" "90" "3942" "1" "3942" "1" "c.3942+1G>T" "r.spl" "p.?" "44i" "0000353854" "00024106" "70" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Gly497Asp)" "22" "0000353856" "00024106" "70" "5048" "0" "5048" "0" "c.5048G>A" "r.(?)" "p.(Arg1683Gln)" "53" "0000353858" "00024106" "70" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Gly108Arg)" "6" "0000353859" "00024106" "70" "1861" "0" "1861" "0" "c.1861G>T" "r.(?)" "p.(Gly621Cys)" "25" "0000353861" "00024106" "90" "4340" "0" "4340" "0" "c.4340del" "r.(?)" "p.(Pro1447Leufs*107)" "49" "0000353864" "00024106" "70" "4474" "0" "4474" "0" "c.4474G>C" "r.(?)" "p.(Gly1492Arg)" "49" "0000353865" "00024106" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Gly1161Glu)" "39" "0000353866" "00024106" "50" "3455" "-17" "3455" "-17" "c.3455-17T>A" "r.(?)" "p.(=)" "38i" "0000353867" "00024106" "70" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Gly908Glu)" "32" "0000353868" "00024106" "90" "3107" "-1" "3246" "1" "c.(3106+1_3107-1)_(3246+1_3247-1)del" "r.?" "p.?" "35i_36i" "0000353869" "00024106" "90" "1291" "0" "1298" "0" "c.1291_1298dup" "r.(?)" "p.(Pro434Leufs*43)" "20" "0000353870" "00024106" "70" "1424" "0" "1424" "0" "c.1424G>A" "r.(?)" "p.(Gly475Asp)" "22" "0000353872" "00024106" "90" "3460" "0" "3460" "0" "c.3460G>T" "r.(?)" "p.(Gly1154*)" "39" "0000353874" "00024106" "50" "438" "5" "438" "5" "c.438+5G>C" "r.spl?" "p.?" "7i" "0000353876" "00024106" "70" "3595" "0" "3595" "0" "c.3595G>C" "r.(?)" "p.(Gly1199Arg)" "40" "0000353880" "00024106" "70" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Gly328Asp)" "17" "0000353882" "00024106" "70" "1095" "0" "1103" "0" "c.1095_1103dup" "r.(?)" "p.(Leu366_Gly368dup)" "19" "0000353883" "00024106" "70" "3499" "0" "3499" "0" "c.3499G>A" "r.(?)" "p.(Gly1167Ser)" "39" "0000353884" "00024106" "90" "609" "1" "609" "1" "c.609+1G>A" "r.spl" "p.?" "10i" "0000353886" "00024106" "70" "3098" "0" "3098" "0" "c.3098G>T" "r.(?)" "p.(Gly1033Val)" "35" "0000353889" "00024106" "70" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Gly147Arg)" "8" "0000353890" "00024106" "70" "5047" "0" "5047" "0" "c.5047C>T" "r.(?)" "p.(Arg1683*)" "53" "0000353892" "00024106" "90" "82" "-1" "2509" "1" "c.(81+1_82-1)_(2509+1_2510-1)dup" "r.?" "p.?" "1i_30i" "0000353895" "00024106" "70" "4786" "0" "4786" "0" "c.4786T>C" "r.(?)" "p.(Trp1596Arg)" "51" "0000353899" "00024106" "90" "1655" "0" "1655" "0" "c.1655del" "r.(?)" "p.(Thr552Ilefs*5)" "24" "0000353900" "00024106" "70" "834" "5" "834" "5" "c.834+5G>A" "r.spl?" "p.?" "14i" "0000353903" "00024106" "70" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Gly618Glu)" "25" "0000353909" "00024106" "90" "835" "-1" "835" "-1" "c.835-1G>C" "r.spl" "p.?" "14i" "0000353913" "00024106" "90" "2746" "0" "2746" "0" "c.2746A>G" "r.(?)" "p.(Ser916Gly)" "32" "0000353914" "00024106" "50" "892" "-18" "892" "-18" "c.892-18T>G" "r.(?)" "p.(=)" "15i" "0000353915" "00024106" "90" "446" "0" "446" "0" "c.446dup" "r.(?)" "p.(Gly150Trpfs*8)" "8" "0000353918" "00024106" "70" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "25" "0000353920" "00024106" "50" "4414" "0" "4414" "0" "c.4414C>T" "r.(?)" "p.(Arg1472Cys)" "49" "0000353922" "00024106" "90" "2510" "-2" "2510" "-2" "c.2510-2A>G" "r.spl" "p.?" "30i" "0000353924" "00024106" "70" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Gly213Glu)" "11" "0000353926" "00024106" "70" "892" "-1" "892" "-1" "c.892-1G>C" "r.spl" "p.?" "15i" "0000353927" "00024106" "90" "1422" "0" "1423" "14" "c.1422_1423+14del" "r.spl" "p.?" "21_21i" "0000353928" "00024106" "50" "646" "-11" "646" "-11" "c.646-11T>G" "r.(?)" "p.(=)" "11i" "0000353930" "00024106" "70" "1525" "0" "1525" "0" "c.1525G>C" "r.(?)" "p.(Gly509Arg)" "23" "0000353934" "00024106" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373*)" "19" "0000353937" "00024106" "90" "81" "1" "81" "1" "c.81+1G>C" "r.(?)" "p.(=)" "1i" "0000353938" "00024106" "50" "2017" "0" "2017" "0" "c.2017A>G" "r.(?)" "p.(Arg673Gly)" "26" "0000353941" "00024106" "70" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000353944" "00024106" "70" "3508" "0" "3508" "0" "c.3508G>A" "r.(?)" "p.(Gly1170Ser)" "39" "0000353945" "00024106" "70" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000353946" "00024106" "70" "232" "-1" "276" "1" "c.(231+1_232-1)_(276+1_277-1)del" "r.?" "p.?" "3i_4i" "0000353956" "00024106" "70" "4444" "0" "4444" "0" "c.4444T>G" "r.(?)" "p.(Cys1482Gly)" "49" "0000353960" "00024106" "70" "1239" "0" "1239" "0" "c.1239del" "r.(?)" "p.(Pro414Leufs*60)" "20" "0000353962" "00024106" "90" "142" "-1" "990" "1" "c.(141+1_142-1)_(990+1_991-1)del" "r.(142_990)del" "p.(Glu49_Gly331del)" "2i_17i" "0000353963" "00024106" "50" "1517" "-26" "1517" "-26" "c.1517-26T>A" "r.(?)" "p.(=)" "22i" "0000353964" "00024106" "70" "546" "1" "546" "1" "c.546+1dup" "r.spl" "p.?" "9i" "0000353966" "00024106" "90" "384" "1" "384" "1" "c.384+1G>A" "r.spl" "p.Gly893Arg" "6i" "0000353968" "00024106" "90" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Gly638Ser)" "25" "0000353976" "00024106" "70" "2332" "0" "2332" "0" "c.2332G>A" "r.(?)" "p.(Gly778Ser)" "29" "0000353977" "00024106" "70" "3178" "0" "3178" "0" "c.3178G>A" "r.(?)" "p.(Gly1060Arg)" "36" "0000353978" "00024106" "90" "2918" "-1" "4528" "1" "c.(2917+1_2918-1)_(4528+1_4529-1)del" "r.?" "p.?" "33i_49i" "0000353983" "00024106" "70" "1607" "0" "1607" "0" "c.1607G>A" "r.(?)" "p.(Gly536Asp)" "24" "0000353984" "00024106" "70" "2332" "0" "2332" "0" "c.2332G>A" "r.(?)" "p.(Gly778Ser)" "29" "0000353985" "00024106" "70" "3713" "0" "3713" "0" "c.3713G>T" "r.(?)" "p.(Gly1238Val)" "41" "0000353987" "00024106" "70" "1718" "0" "1718" "0" "c.1718G>T" "r.(?)" "p.(Gly573Val)" "24" "0000353989" "00024106" "90" "2918" "-1" "2918" "-1" "c.2918-1G>A" "r.spl" "p.?" "33i" "0000353992" "00024106" "70" "1721" "0" "1721" "0" "c.1721T>G" "r.(?)" "p.(Leu574*)" "24" "0000353993" "00024106" "90" "4821" "1" "4821" "1" "c.4821+1G>T" "r.spl" "p.?" "51i" "0000353999" "00024106" "70" "4650" "0" "4650" "0" "c.4650del" "r.(?)" "p.(Met1551Cysfs*3)" "50" "0000354001" "00024106" "90" "2288" "0" "2288" "0" "c.2288G>A" "r.(?)" "p.(Gly763Glu)" "29" "0000354002" "00024106" "70" "1095" "0" "1103" "0" "c.1095_1103del" "r.(?)" "p.(Leu366_Gly368del)" "19" "0000354003" "00024106" "90" "4995" "-11" "4995" "-5" "c.4995-11_4995-5del" "r.(?)" "p.(=)" "52i" "0000354004" "00024106" "70" "1121" "0" "1121" "0" "c.1121G>A" "r.(?)" "p.(Gly374Glu)" "19" "0000354006" "00024106" "70" "3508" "0" "3508" "0" "c.3508G>A" "r.(?)" "p.(Gly1170Ser)" "39" "0000354007" "00024106" "70" "1499" "0" "1499" "0" "c.1499G>A" "r.(?)" "p.(Gly500Asp)" "22" "0000354008" "00024106" "70" "494" "0" "494" "0" "c.494C>A" "r.(?)" "p.(Ser165*)" "9" "0000354009" "00024106" "90" "4705" "0" "4705" "0" "c.4705C>T" "r.(?)" "p.(Arg1569*)" "50" "0000354012" "00024106" "70" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000354016" "00024106" "90" "2992" "0" "2992" "0" "c.2992C>T" "r.(?)" "p.(Gln998*)" "34" "0000354021" "00024106" "70" "4174" "0" "4174" "0" "c.4174delinsTT" "r.(?)" "p.(Leu1392Phefs*32)" "47" "0000354022" "00024106" "70" "1709" "0" "1709" "0" "c.1709G>A" "r.(?)" "p.(Gly570Glu)" "24" "0000354025" "00024106" "70" "2475" "0" "2483" "0" "c.2475_2483del" "r.(?)" "p.(Pro826_Gly828del)" "30" "0000354027" "00024106" "50" "2405" "0" "2405" "0" "c.2405G>A" "r.(?)" "p.(Gly802Glu)" "30" "0000354336" "00024106" "90" "-27291" "0" "81" "18040" "c.-27291_81+18040del" "r.0?" "p.0?" "_1_1i" "0000354337" "00024106" "90" "-8024" "0" "81" "8068" "c.-8024_81+8068del" "r.0?" "p.0?" "_1_1i" "0000354338" "00024106" "90" "-86239" "0" "3246" "6915" "c.-86239_3246+6915del" "r.0?" "p.0" "_1_36i" "0000354339" "00024106" "90" "-87860" "0" "277" "-1446" "c.-87860_277-1446del" "r.0?" "p.0?" "_1_4i" "0000354340" "00024106" "90" "-121660" "0" "3246" "6706" "c.-121660_3246+6706del" "r.0?" "p.0" "_1_36i" "0000354341" "00024106" "90" "-1" "0" "141" "1" "c.(?_-1)_(141+1_142-1)del" "r.0?" "p.0?" "_1_2i" "0000354342" "00024106" "90" "-38333" "0" "81" "1917" "c.-38333_81+1917del" "r.0?" "p.0?" "_1_1i" "0000354343" "00024106" "70" "2" "0" "6" "0" "c.2_6del" "r.(?)" "p.0?" "1" "0000354344" "00024106" "70" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.0?" "1" "0000354345" "00024106" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "1" "0000354346" "00024106" "90" "57" "0" "58" "0" "c.57_58del" "r.(?)" "p.(Trp20Glyfs*19)" "1" "0000354347" "00024106" "90" "81" "2" "81" "2" "c.81+2dup" "r.spl" "p.?" "1i" "0000354348" "00024106" "70" "81" "4" "81" "4" "c.81+4A>C" "r.spl?" "p.?" "1i" "0000354349" "00024106" "70" "83" "0" "141" "1" "c.83_141+1del" "r.spl?" "p.(Ala28_Lys47del)" "2" "0000354350" "00024106" "70" "82" "0" "82" "0" "c.82G>T" "r.spl" "p.(Ala28Ser)" "2" "0000354351" "00024106" "70" "82" "-1" "1516" "1" "c.82-?_1516+?del" "r.?" "p.?" "1i_22i" "0000354352" "00024106" "90" "82" "-9637" "16078" "0" "c.82-9637_*11002del" "r.0?" "p.0?" "1i_51_" "0000354353" "00024106" "90" "107" "0" "107" "0" "c.107C>G" "r.(?)" "p.(Ser36*)" "2" "0000354354" "00024106" "90" "152" "0" "152" "0" "c.152G>T" "r.(?)" "p.(Gly51Val)" "3" "0000354355" "00024106" "90" "152" "0" "152" "0" "c.152G>T" "r.(?)" "p.(Gly51Val)" "3" "0000354356" "00024106" "90" "187" "0" "187" "0" "c.187G>T" "r.(?)" "p.(Gly63*)" "3" "0000354357" "00024106" "70" "231" "1" "231" "1" "c.231+1G>A" "r.spl" "p.?" "3i" "0000354358" "00024106" "70" "321" "1" "321" "2" "c.321+1_321+2dup" "r.spl" "p.Gly108Trpfs*48" "5_5i" "0000354359" "00024106" "90" "340" "0" "340" "0" "c.340G>C" "r.(?)" "p.(Gly114Arg)" "6" "0000354360" "00024106" "70" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Gly123Glu)" "6" "0000354361" "00024106" "70" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(=)" "6" "0000354362" "00024106" "70" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Gly138Ser)" "7" "0000354363" "00024106" "90" "437" "0" "437" "0" "c.437del" "r.(?)" "p.(Pro146Glnfs*9)" "7" "0000354364" "00024106" "90" "465" "2" "465" "2" "c.465+2T>C" "r.spl" "p.?" "8i" "0000354365" "00024106" "90" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Gly159Asp)" "9" "0000354366" "00024106" "70" "500" "0" "500" "0" "c.500del" "r.(?)" "p.(Pro167Glnfs*36)" "9" "0000354367" "00024106" "70" "547" "-3" "547" "-3" "c.547-3C>A" "r.spl?" "p.Gly183_Met203del" "9i" "0000354368" "00024106" "90" "547" "-1" "1779" "1" "c.(546+1_547-1)_(1779+1_1780-1)dup" "r.?" "p.?" "9i_24i" "0000354369" "00024106" "70" "560" "0" "561" "0" "c.560_561dup" "r.(?)" "p.(Thr188Profs*16)" "10" "0000354370" "00024106" "90" "609" "875" "609" "875" "c.609+875G>T" "r.609_610ins609+751_609+874" "p.(=)" "10i" "0000354371" "00024106" "90" "610" "-1" "610" "-1" "c.610-1G>C" "r.spl" "p.?" "10i" "0000354372" "00024106" "90" "610" "-2" "610" "-2" "c.610-2A>T" "r.610_628del" "p.?" "10i" "0000354373" "00024106" "90" "662" "0" "662" "0" "c.662del" "r.(?)" "p.(Asn221Ilefs*33)" "12" "0000354374" "00024106" "70" "665" "0" "665" "0" "c.665T>G" "r.(?)" "p.(Phe222Cys)" "12" "0000354375" "00024106" "90" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Gly227Asp)" "12" "0000354376" "00024106" "70" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Gly227Asp)" "12" "0000354379" "00024106" "70" "685" "0" "685" "0" "c.685A>T" "r.(?)" "p.(Lys229*)" "12" "0000354380" "00024106" "70" "687" "1" "687" "1" "c.687+1G>A" "r.spl" "p.?" "12i" "0000354381" "00024106" "70" "698" "0" "698" "0" "c.698G>T" "r.(?)" "p.(Gly233Val)" "13" "0000354382" "00024106" "70" "780" "5" "780" "5" "c.780+5G>A" "r.spl?" "p.?" "13i" "0000354383" "00024106" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266*)" "14" "0000354384" "00024106" "70" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266*)" "14" "0000354385" "00024106" "70" "801" "0" "801" "0" "c.801dup" "r.(?)" "p.(Pro268Alafs*17)" "14" "0000354386" "00024106" "70" "834" "2" "834" "2" "c.834+2T>C" "r.spl" "p.?" "14i" "0000354387" "00024106" "90" "845" "0" "845" "0" "c.845del" "r.(?)" "p.(Gly282Valfs*64)" "15" "0000354388" "00024106" "70" "876" "0" "876" "0" "c.876A>T" "r.(?)" "p.(=)" "15" "0000354389" "00024106" "70" "891" "9" "891" "9" "c.891+9T>G" "r.(?)" "p.(=)" "15" "0000354390" "00024106" "90" "904" "0" "904" "0" "c.904A>T" "r.(?)" "p.(Lys302*)" "16" "0000354391" "00024106" "90" "904" "0" "904" "0" "c.904A>T" "r.(?)" "p.(Lys302*)" "16" "0000354392" "00024106" "70" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Gly307Asp)" "16" "0000354393" "00024106" "70" "936" "1" "936" "1" "c.936+1G>A" "r.spl" "p.?" "16i" "0000354394" "00024106" "90" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Gly313Asp)" "17" "0000354395" "00024106" "90" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Gly316Asp)" "17" "0000354396" "00024106" "70" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Gly316Asp)" "17" "0000354397" "00024106" "70" "965" "0" "965" "0" "c.965G>T" "r.(?)" "p.(Gly322Val)" "17" "0000354398" "00024106" "70" "965" "0" "965" "0" "c.965G>T" "r.(?)" "p.(Gly322Val)" "17" "0000354399" "00024106" "70" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000354400" "00024106" "70" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000354401" "00024106" "90" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000354402" "00024106" "70" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "17" "0000354403" "00024106" "70" "980" "0" "983" "0" "c.980_983del" "r.(?)" "p.(Asp327Valfs*18)" "17" "0000354404" "00024106" "90" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Gly334Asp)" "18" "0000354405" "00024106" "90" "1001" "0" "1001" "0" "c.1001G>T" "r.(?)" "p.(Gly334Val)" "18" "0000354406" "00024106" "90" "1010" "0" "1010" "0" "c.1010G>T" "r.(?)" "p.(Gly337Val)" "18" "0000354407" "00024106" "90" "1032" "1" "1032" "1" "c.1032+1G>T" "r.spl" "p.?" "18i" "0000354408" "00024106" "90" "1033" "-6" "1033" "-6" "c.1033-6A>G" "r.spl?" "p.(=)" "18i" "0000354409" "00024106" "90" "1073" "0" "1074" "0" "c.1073_1074insC" "r.(?)" "p.(Lys358Asnfs*53)" "19" "0000354410" "00024106" "70" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Gly359Arg)" "19" "0000354411" "00024106" "90" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Gly365Glu)" "19" "0000354412" "00024106" "90" "1109" "0" "1110" "0" "c.1109_1110del" "r.(?)" "p.(Lys370Argfs*40)" "19" "0000354413" "00024106" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373*)" "19" "0000354414" "00024106" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373*)" "19" "0000354415" "00024106" "90" "1121" "0" "1121" "0" "c.1121G>T" "r.(?)" "p.(Gly374Val)" "19" "0000354416" "00024106" "90" "1165" "0" "1165" "0" "c.1165G>A" "r.(?)" "p.(Gly389Arg)" "19" "0000354417" "00024106" "90" "1165" "0" "1165" "0" "c.1165G>A" "r.(?)" "p.(Gly389Arg)" "19" "0000354418" "00024106" "90" "991" "-1" "991" "-1" "c.991-1G>A" "r.991del" "p.?" "17i" "0000354419" "00024106" "90" "1166" "-1" "1423" "1" "c.(1165+1_1166-1)_(1423+1_1424-1)del" "r.(?)" "p.(Ala390_Gly475del)" "19i_21i" "0000354420" "00024106" "90" "1208" "0" "1208" "0" "c.1208G>A" "r.(?)" "p.(Gly403Glu)" "20" "0000354421" "00024106" "90" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "20" "0000354422" "00024106" "90" "1226" "0" "1226" "0" "c.1226G>T" "r.(?)" "p.(Gly409Val)" "20" "0000354423" "00024106" "90" "1233" "0" "1233" "0" "c.1233dup" "r.(?)" "p.(Gly412Argfs*14)" "20" "0000354424" "00024106" "70" "1246" "0" "1269" "0" "c.1246_1269del" "r.(?)" "p.(Ile416_Gly423del)" "20" "0000354425" "00024106" "90" "1376" "0" "1376" "0" "c.1376dup" "r.(?)" "p.(Gly460Argfs*5)" "21" "0000354426" "00024106" "90" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Gln468*)" "21" "0000354427" "00024106" "90" "142" "-1" "4821" "1" "c.(141+1_142-1)_(4821+1_4822-1)del" "r.?" "p.(Gly475Alafs*38)" "2i_51i" "0000354428" "00024106" "70" "1499" "0" "1499" "0" "c.1499G>T" "r.(?)" "p.(Gly500Val)" "22" "0000354429" "00024106" "50" "1526" "0" "1526" "0" "c.1526G>A" "r.(?)" "p.(Gly509Asp)" "23" "0000354430" "00024106" "90" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.(Gly518Arg)" "23" "0000354431" "00024106" "90" "1587" "5" "1587" "5" "c.1587+5G>C" "r.spl?" "p.?" "23i" "0000354432" "00024106" "90" "1587" "5" "1587" "5" "c.1587+5G>C" "r.spl?" "p.?" "23i" "0000354433" "00024106" "90" "1587" "5" "1587" "5" "c.1587+5G>C" "r.spl?" "p.?" "23i" "0000354434" "00024106" "90" "1587" "5" "1587" "5" "c.1587+5G>C" "r.spl?" "p.?" "23i" "0000354435" "00024106" "90" "1624" "0" "1624" "0" "c.1624G>A" "r.(?)" "p.(Gly542Arg)" "24" "0000354436" "00024106" "90" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Gly582Glu)" "24" "0000354437" "00024106" "50" "1769" "0" "1769" "0" "c.1769A>C" "r.(?)" "p.(Lys590Thr)" "24" "0000354438" "00024106" "90" "1780" "-1" "1780" "-1" "c.1780-1G>T" "r.spl" "p.?" "24i" "0000354439" "00024106" "90" "1922" "0" "1922" "0" "c.1922G>T" "r.(?)" "p.(Gly641Val)" "25" "0000354440" "00024106" "70" "1799" "0" "1799" "0" "c.1799G>A" "r.(?)" "p.(Gly600Asp)" "25" "0000354441" "00024106" "90" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Gly609Asp)" "25" "0000354442" "00024106" "70" "1846" "0" "1854" "0" "c.1846_1854del" "r.(?)" "p.(Asn616_Gly618del)" "25" "0000354443" "00024106" "90" "1861" "0" "1861" "0" "c.1861G>T" "r.(?)" "p.(Gly621Cys)" "25" "0000354444" "00024106" "70" "1862" "0" "1862" "0" "c.1862G>T" "r.(?)" "p.(Gly621Val)" "25" "0000354445" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "25" "0000354446" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" 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"p.(Gly365Glu)" "19" "0000354715" "00024106" "70" "3454" "1" "3454" "1" "c.3454+1G>A" "r.spl" "p.?" "38i" "0000354716" "00024106" "90" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Gly1057Glu)" "36" "0000354717" "00024106" "70" "2767" "4" "2767" "4" "c.2767+4A>G" "r.spl?" "p.?" "32i" "0000354718" "00024106" "70" "1032" "5" "1032" "5" "c.1032+5G>T" "r.spl" "p.?" "18i" "0000354719" "00024106" "70" "2490" "0" "2490" "0" "c.2490dup" "r.(?)" "p.(Gly831Trpfs*24)" "30" "0000354720" "00024106" "70" "4964" "0" "4964" "0" "c.4964T>G" "r.(?)" "p.(Leu1655Arg)" "52" "0000354721" "00024106" "70" "1799" "0" "1799" "0" "c.1799G>A" "r.(?)" "p.(Gly600Asp)" "25" "0000354722" "00024106" "90" "3508" "0" "3508" "0" "c.3508G>A" "r.(?)" "p.(Gly1170Ser)" "39" "0000354723" "00024106" "70" "2041" "0" "2041" "0" "c.2041G>A" "r.(?)" "p.(Gly681Ser)" "26" "0000354724" "00024106" "70" "2348" "0" "2348" "0" "c.2348C>T" "r.(?)" "p.(Pro783Leu)" "29" "0000354725" "00024106" "70" "4307" "0" "4308" "0" "c.4307_4308delinsAT" "r.(?)" "p.(Gly1436Asp)" "48" "0000354738" "00024106" "70" "455" "0" "455" "0" "c.455C>G" "r.(?)" "p.(Pro152Arg)" "8" "0000354742" "00024106" "50" "2308" "0" "2308" "0" "c.2308G>C" "r.(?)" "p.(Ala770Pro)" "29" "0000354753" "00024106" "90" "610" "-1" "610" "-1" "c.610-1G>C" "r.spl" "p.?" "10i" "0000354772" "00024106" "70" "4567" "0" "4567" "0" "c.4567C>A" "r.(?)" "p.(Pro1523Thr)" "50" "0000354779" "00024106" "50" "4353" "0" "4353" "0" "c.4353A>T" "r.(?)" "p.(Gly1451=)" "49" "0000354786" "00024106" "50" "2509" "17" "2509" "17" "c.2509+17T>C" "r.(?)" "p.(=)" "30i" "0000354788" "00024106" "70" "2977" "0" "2977" "0" "c.2977G>C" "r.(?)" "p.(Gly893Arg)" "34" "0000354789" "00024106" "50" "4414" "0" "4414" "0" "c.4414C>T" "r.(?)" "p.(Arg1472Cys)" "49" "0000354791" "00024106" "50" "3664" "0" "3664" "0" "c.3664A>C" "r.(?)" "p.(Lys1222Gln)" "41" "0000354803" "00024106" "50" "1670" "0" "1670" "0" "c.1670A>C" "r.(?)" "p.(Lys557Thr)" "24" "0000354805" "00024106" "50" "0" "0" "0" "0" "c.(?_-1)_(*1_?)[2]" "r.(=)|2" "p.(=)|2" "_1_53_" "0000354810" "00024106" "90" "884" "0" "884" "0" "c.884G>A" "r.(?)" "p.(Gly295Asp)" "15" "0000354916" "00024106" "50" "5012" "0" "5012" "0" "c.5012C>T" "r.(?)" "p.(Thr1671Met)" "55" "0000394663" "00024106" "70" "2722" "0" "2722" "0" "c.2722G>T" "r.(?)" "p.(Gly908*)" "32" "0000454011" "00024106" "70" "3659" "0" "3659" "0" "c.3659G>A" "r.(?)" "p.(Gly1220Asp)" "41" "0000464328" "00024106" "70" "901" "0" "901" "0" "c.901G>C" "r.(?)" "p.(Gly301Arg)" "" "0000473758" "00024106" "75" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Gly227Ser)" "12" "0000473759" "00024106" "90" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Gly298Asp)" "16" "0000473760" "00024106" "90" "1781" "0" "1781" "0" "c.1781G>A" "r.(?)" "p.(Gly594Asp)" "25" "0000473761" "00024106" "90" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" "16" "0000473762" "00024106" "70" "1526" "0" "1526" "0" "c.1526G>A" "r.(?)" "p.(Gly509Asp)" "23" "0000473763" "00024106" "90" "3410" "0" "3410" "0" "c.3410G>A" "r.(?)" "p.(Gly1137Asp)" "38" "0000473764" "00024106" "90" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Gly138Asp)" "7" "0000473765" "00024106" "90" "3731" "0" "3731" "0" "c.3731G>A" "r.(?)" "p.(Gly1244Asp)" "41" "0000473766" "00024106" "90" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Gly319Ser)" "17" "0000473767" "00024106" "90" "1347" "0" "1355" "0" "c.1347_1355del" "r.(?)" "p.(Ile450_Glu452del)" "21" "0000473768" "00024106" "90" "1078" "0" "1113" "0" "c.1078_1113del" "r.(?)" "p.(Asn360_Gly371del)" "19" "0000473769" "00024106" "90" "82" "-1" "465" "1" "c.(81+1_82-1)_(465+1_466-1)del" "r.?" "p.?" "1i_8i" "0000473770" "00024106" "90" "546" "2" "546" "2" "c.546+2dup" "r.spl" "p.?" "9" "0000473771" "00024106" "90" "3809" "-2" "3809" "-2" "c.3809-2A>T" "r.spl" "p.?" "43i" "0000473772" "00024106" "90" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Gly638Ser)" "25" "0000473773" "00024106" "90" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Gly334Ser)" "18" "0000473774" "00024106" "90" "2441" "0" "2441" "0" "c.2441G>C" "r.(?)" "p.(Gly814Ala)" "29" "0000473775" "00024106" "90" "2858" "0" "2858" "0" "c.2858G>T" "r.(?)" "p.(Gly953Val)" "33" "0000473776" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "31" "0000473777" "00024106" "90" "2288" "0" "2288" "0" "c.2288G>T" "r.(?)" "p.(Gly763Val)" "29" "0000473778" "00024106" "90" "4475" "0" "4475" "0" "c.4475G>A" "r.(?)" "p.(Gly1492Asp)" "49" "0000473779" "00024106" "90" "2051" "0" "2051" "0" "c.2051G>T" "r.(?)" "p.(Gly684Val)" "27" "0000473780" "00024106" "90" "3491" "0" "3491" "0" "c.3491G>A" "r.(?)" "p.(Gly1164Asp)" "39" "0000473781" "00024106" "90" "1781" "0" "1781" "0" "c.1781G>A" "r.(?)" "p.(Gly594Asp)" "25" "0000473782" "00024106" "90" "3206" "0" "3206" "0" "c.3206G>A" "r.(?)" "p.(Gly1069Asp)" "36" "0000473783" "00024106" "90" "3053" "0" "3053" "0" "c.3053G>A" "r.(?)" "p.(Gly1018Asp)" "35" "0000473784" "00024106" "90" "4195" "0" "4195" "0" "c.4195C>T" "r.(?)" "p.(Gln1399*)" "45" "0000473785" "00024106" "90" "4705" "0" "4705" "0" "c.4705C>T" "r.(?)" "p.(Arg1569*)" "50" "0000473786" "00024106" "90" "5047" "0" "5047" "0" "c.5047C>T" "r.(?)" "p.(Arg1683*)" "53" "0000473787" "00024106" "90" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Gln291*)" "15" "0000473788" "00024106" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "51" "0000473789" "00024106" "90" "1652" "0" "1653" "0" "c.1652_1653insTC" "r.(?)" "p.(Thr552Profs*6)" "24" "0000473790" "00024106" "90" "4754" "0" "4755" "0" "c.4754_4755insT" "r.(?)" "p.(Gln1585Hisfs*61)" "51" "0000473791" "00024106" "90" "4837" "0" "4837" "0" "c.4837dup" "r.(?)" "p.(Ala1613Glyfs*33)" "52" "0000473792" "00024106" "90" "3450" "0" "3451" "0" "c.3450_3451insAC" "r.(?)" "p.(Val1151Thrfs*2)" "38" "0000473793" "00024106" "90" "2903" "0" "2904" "0" "c.2903_2904insG" "r.(?)" "p.(Pro969Thrfs*42)" "33" "0000473794" "00024106" "90" "331" "0" "332" "0" "c.331_332insCA" "r.(?)" "p.(Gly111Alafs*45)" "6" "0000473795" "00024106" "90" "1411" "0" "1415" "0" "c.1411_1415dup" "r.(?)" "p.(Val473Lysfs*3)" "21" "0000473796" "00024106" "90" "3374" "-1" "5077" "0" "c.(3373+1_3374-1)_(*1_?)del" "r.?" "p.?" "37i_53_" "0000473797" "00024106" "90" "4583" "0" "4583" "0" "c.4583del" "r.(?)" "p.(Asn1528Thrfs*26)" "50" "0000473798" "00024106" "90" "4743" "0" "4743" "0" "c.4743del" "r.(?)" "p.(Val1582Phefs*25)" "51" "0000473799" "00024106" "90" "-1" "0" "81" "1" "c.(?_-1)_(81+1_82-1)del" "r.0?" "p.0?" "_1_1i" "0000473800" "00024106" "90" "368" "0" "368" "0" "c.368del" "r.(?)" "p.(Gly123Aspfs*32)" "6" "0000473801" "00024106" "90" "2589" "0" "2589" "0" "c.2589del" "r.(?)" "p.(Ser864Valfs*11)" "31" "0000473802" "00024106" "90" "1948" "894" "1948" "894" "c.1948+894C>G" "r.spl" "p.(=)" "25i" "0000473803" "00024106" "90" "1948" "1" "1948" "1" "c.1948+1G>A" "r.spl" "p.?" "25i" "0000473804" "00024106" "90" "4528" "1609" "4528" "1609" "c.4528+1609?" "r.?" "p.?" "49i" "0000473805" "00024106" "90" "4994" "2" "4994" "2" "c.4994+2T>C" "r.spl" "p.?" "52i" "0000473806" "00024106" "90" "609" "875" "609" "875" "c.609+875G>T" "r.spl" "p.(=)" "10i" "0000473807" "00024106" "90" "2042" "-18" "2042" "-18" "c.2042-18A>G" "r.spl" "p?" "27" "0000499678" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "25" "0000572924" "00024106" "50" "623" "0" "623" "0" "c.623C>T" "r.(?)" "p.(Pro208Leu)" "" "0000572925" "00024106" "10" "909" "0" "909" "0" "c.909T>C" "r.(?)" "p.(Asp303=)" "" "0000572927" "00024106" "30" "1095" "0" "1103" "0" "c.1095_1103del" "r.(?)" "p.(Leu366_Gly368del)" "" "0000572928" "00024106" "70" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Gly426Arg)" "" "0000572929" "00024106" "50" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.(Gly518Arg)" "" "0000572930" "00024106" "30" "1810" "0" "1810" "0" "c.1810C>A" "r.(?)" "p.(Pro604Thr)" "" "0000572932" "00024106" "50" "2277" "0" "2285" "0" "c.2277_2285del" "r.(?)" "p.(Pro761_Gly763del)" "" "0000572933" "00024106" "30" "3467" "0" "3467" "0" "c.3467A>T" "r.(?)" "p.(His1156Leu)" "" "0000572934" "00024106" "30" "3771" "0" "3771" "0" "c.3771A>T" "r.(?)" "p.(Gln1257His)" "" "0000572935" "00024106" "70" "3790" "2" "3790" "2" "c.3790+2T>C" "r.spl?" "p.?" "" "0000572936" "00024106" "30" "3808" "7" "3808" "7" "c.3808+7C>T" "r.(=)" "p.(=)" "" "0000572937" "00024106" "30" "4072" "0" "4072" "0" "c.4072C>A" "r.(?)" "p.(Leu1358Ile)" "" "0000572938" "00024106" "50" "4370" "0" "4370" "0" "c.4370G>T" "r.(?)" "p.(Gly1457Val)" "" "0000572939" "00024106" "70" "4631" "0" "4631" "0" "c.4631G>C" "r.(?)" "p.(Trp1544Ser)" "" "0000572940" "00024106" "30" "4741" "0" "4741" "0" "c.4741G>T" "r.(?)" "p.(Ala1581Ser)" "" "0000572941" "00024106" "30" "4898" "0" "4898" "0" "c.4898C>T" "r.(?)" "p.(Ala1633Val)" "" "0000572942" "00024106" "70" "4913" "0" "4913" "0" "c.4913G>A" "r.(?)" "p.(Cys1638Tyr)" "" "0000572943" "00024106" "10" "5125" "0" "5126" "0" "c.*49_*50dup" "r.(=)" "p.(=)" "" "0000597574" "00024106" "90" "4804" "0" "4804" "0" "c.4804G>T" "r.(?)" "p.(Gly1602Cys)" "51" "0000618764" "00024106" "50" "-16" "0" "-16" "0" "c.-16C>T" "r.(?)" "p.(=)" "" "0000618765" "00024106" "30" "46" "0" "46" "0" "c.46G>T" "r.(?)" "p.(Ala16Ser)" "" "0000618766" "00024106" "90" "107" "0" "114" "0" "c.107_114del" "r.(?)" "p.(Ser36Ter)" "" "0000618767" "00024106" "30" "141" "6" "141" "6" "c.141+6G>A" "r.(=)" "p.(=)" "" "0000618768" "00024106" "90" "176" "0" "176" "0" "c.176del" "r.(?)" "p.(Pro59GlnfsTer96)" "" "0000618769" "00024106" "30" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74Trp)" "" "0000618770" "00024106" "30" "232" "-17" "232" "-17" "c.232-17A>C" "r.(=)" "p.(=)" "" "0000618771" "00024106" "70" "232" "-1" "232" "-1" "c.232-1G>A" "r.spl?" "p.?" "" "0000618772" "00024106" "90" "293" "0" "293" "0" "c.293del" "r.(?)" "p.(Pro98LeufsTer57)" "" "0000618773" "00024106" "70" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Arg)" "" "0000618774" "00024106" "70" "385" "-707" "385" "-707" "c.385-707G>A" "r.(=)" "p.(=)" "" "0000618775" "00024106" "70" "385" "-673" "385" "-673" "c.385-673T>G" "r.(=)" "p.(=)" "" "0000618776" "00024106" "30" "385" "-36" "385" "-36" "c.385-36T>G" "r.(=)" "p.(=)" "" "0000618777" "00024106" "90" "385" "-1" "385" "-1" "c.385-1G>C" "r.spl?" "p.?" "" "0000618778" "00024106" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Gly129Glu)" "" "0000618779" "00024106" "10" "438" "36" "438" "36" "c.438+36G>T" "r.(=)" "p.(=)" "" "0000618780" "00024106" "90" "455" "0" "455" "0" "c.455del" "r.(?)" "p.(Pro152GlnfsTer3)" "" "0000618781" "00024106" "70" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Gly153Ser)" "" "0000618782" "00024106" "70" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Gly153Asp)" "" "0000618783" "00024106" "30" "465" "11" "465" "11" "c.465+11C>T" "r.(=)" "p.(=)" "" "0000618784" "00024106" "30" "466" "-37" "466" "-37" "c.466-37A>T" "r.(=)" "p.(=)" "" "0000618785" "00024106" "70" "511" "0" "511" "0" "c.511G>T" "r.(?)" "p.(Gly171Cys)" "" "0000618786" "00024106" "90" "561" "0" "561" "0" "c.561del" "r.(?)" "p.(Thr188LeufsTer15)" "" "0000618787" "00024106" "10" "609" "21" "609" "21" "c.609+21T>C" "r.(=)" "p.(=)" "" "0000618788" "00024106" "90" "710" "0" "710" "0" "c.710del" "r.(?)" "p.(Pro237HisfsTer17)" "" "0000618789" "00024106" "90" "788" "0" "788" "0" "c.788del" "r.(?)" "p.(Pro263LeufsTer83)" "" "0000618790" "00024106" "70" "891" "1" "891" "1" "c.891+1G>A" "r.spl?" "p.?" "" "0000618791" "00024106" "10" "891" "37" "891" "37" "c.891+37A>G" "r.(=)" "p.(=)" "" "0000618792" "00024106" "30" "891" "84" "891" "85" "c.891+84_891+85insACTT" "r.(=)" "p.(=)" "" "0000618793" "00024106" "70" "990" "1" "990" "1" "c.990+1G>C" "r.spl?" "p.?" "" "0000618794" "00024106" "70" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.(Gly331Asp)" "" "0000618795" "00024106" "70" "1001" "0" "1001" "0" "c.1001G>T" "r.(?)" "p.(Gly334Val)" "" "0000618796" "00024106" "30" "1032" "9" "1032" "9" "c.1032+9T>G" "r.(=)" "p.(=)" "" "0000618797" "00024106" "30" "1047" "0" "1047" "0" "c.1047T>C" "r.(?)" "p.(Pro349=)" "" "0000618798" "00024106" "90" "1081" "0" "1081" "0" "c.1081del" "r.(?)" "p.(Ile361LeufsTer113)" "" "0000618799" "00024106" "70" "1094" "0" "1094" "0" "c.1094G>C" "r.(?)" "p.(Gly365Ala)" "" "0000618800" "00024106" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "" "0000618801" "00024106" "70" "1165" "1" "1165" "1" "c.1165+1G>A" "r.spl?" "p.?" "" "0000618802" "00024106" "70" "1268" "0" "1268" "0" "c.1268G>T" "r.(?)" "p.(Gly423Val)" "" "0000618804" "00024106" "10" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Asp)" "" "0000618805" "00024106" "10" "1331" "0" "1331" "0" "c.1331T>G" "r.(?)" "p.(Ile444Ser)" "" "0000618806" "00024106" "90" "1423" "1175" "1423" "1175" "c.1423+1175G>T" "r.(=)" "p.(=)" "" "0000618807" "00024106" "90" "1525" "0" "1525" "0" "c.1525G>T" "r.(?)" "p.(Gly509Cys)" "" "0000618808" "00024106" "70" "1587" "5" "1587" "5" "c.1587+5G>A" "r.spl?" "p.?" "" "0000618809" "00024106" "30" "1588" "-15" "1588" "-15" "c.1588-15C>T" "r.(=)" "p.(=)" "" "0000618810" "00024106" "50" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Pro535Ser)" "" "0000618811" "00024106" "90" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Gly558Asp)" "" "0000618812" "00024106" "90" "1780" "0" "1780" "0" "c.1780G>A" "r.(?)" "p.(Gly594Ser)" "" "0000618813" "00024106" "90" "1809" "0" "1809" "0" "c.1809del" "r.(?)" "p.(Pro605LeufsTer13)" "" "0000618814" "00024106" "90" "1814" "0" "1814" "0" "c.1814dup" "r.(?)" "p.(Gly606TrpfsTer28)" "" "0000618815" "00024106" "70" "1861" "0" "1861" "0" "c.1861G>T" "r.(?)" "p.(Gly621Cys)" "" "0000618816" "00024106" "70" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "" "0000618817" "00024106" "90" "1886" "0" "1886" "0" "c.1886G>A" "r.(?)" "p.(Gly629Asp)" "" "0000618818" "00024106" "70" "1903" "0" "1903" "0" "c.1903G>C" "r.(?)" "p.(Gly635Arg)" "" "0000618819" "00024106" "90" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Gln645Ter)" "" "0000618820" "00024106" "70" "1949" "-2" "1949" "-2" "c.1949-2A>G" "r.spl?" "p.?" "" "0000618821" "00024106" "70" "1986" "0" "2003" "0" "c.1986_2003dup" "r.(?)" "p.(Lys664_Gly669dup)" "" "0000618822" "00024106" "10" "1992" "0" "1992" "0" "c.1992G>T" "r.(?)" "p.(Lys664Asn)" "" "0000618823" "00024106" "30" "2017" "0" "2017" "0" "c.2017A>G" "r.(?)" "p.(Arg673Gly)" "" "0000618824" "00024106" "70" "2060" "0" "2060" "0" "c.2060G>A" "r.(?)" "p.(Gly687Glu)" "" "0000618825" "00024106" "90" "2062" "0" "2062" "0" "c.2062C>T" "r.(?)" "p.(Gln688Ter)" "" "0000618826" "00024106" "70" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Gly693Glu)" "" "0000618827" "00024106" "70" "2147" "-2" "2147" "-2" "c.2147-2A>G" "r.spl?" "p.?" "" "0000618828" "00024106" "50" "2244" "0" "2244" "0" "c.2244G>A" "r.(?)" "p.(Lys748=)" "" "0000618829" "00024106" "70" "2245" "-41" "2245" "-41" "c.2245-41del" "r.(=)" "p.(=)" "" "0000618830" "00024106" "70" "2245" "-40" "2245" "-40" "c.2245-40A>G" "r.(=)" "p.(=)" "" "0000618831" "00024106" "70" "2346" "0" "2349" "0" "c.2346_2349dup" "r.(?)" "p.(Gly784SerfsTer18)" "" "0000618832" "00024106" "90" "2394" "0" "2394" "0" "c.2394A>G" "r.(?)" "p.(Lys798=)" "" "0000618833" "00024106" "70" "2395" "3" "2395" "3" "c.2395+3A>G" "r.spl?" "p.?" "" "0000618834" "00024106" "90" "2513" "0" "2513" "0" "c.2513dup" "r.(?)" "p.(Leu838PhefsTer17)" "" "0000618835" "00024106" "70" "2537" "0" "2537" "0" "c.2537G>A" "r.(?)" "p.(Gly846Glu)" "" "0000618836" "00024106" "70" "2579" "0" "2579" "0" "c.2579G>C" "r.(?)" "p.(Gly860Ala)" "" "0000618837" "00024106" "70" "2669" "0" "2669" "0" "c.2669G>T" "r.(?)" "p.(Gly890Val)" "" "0000618838" "00024106" "10" "2768" "-11" "2768" "-11" "c.2768-11A>G" "r.(=)" "p.(=)" "" "0000618839" "00024106" "70" "2830" "0" "2830" "0" "c.2830G>A" "r.(?)" "p.(Gly944Arg)" "" "0000618840" "00024106" "10" "2858" "0" "2858" "0" "c.2858G>T" "r.(?)" "p.(Gly953Val)" "" "0000618841" "00024106" "90" "3032" "0" "3032" "0" "c.3032del" "r.(?)" "p.(Pro1011LeufsTer10)" "" "0000618842" "00024106" "70" "3070" "0" "3070" "0" "c.3070G>C" "r.(?)" "p.(Gly1024Arg)" "" "0000618843" "00024106" "70" "3088" "0" "3088" "0" "c.3088G>A" "r.(?)" "p.(Gly1030Ser)" "" "0000618844" "00024106" "30" "3107" "-11" "3107" "-11" "c.3107-11A>T" "r.(=)" "p.(=)" "" "0000618845" "00024106" "70" "3319" "0" "3319" "0" "c.3319G>A" "r.(?)" "p.(Gly1107Arg)" "" "0000618846" "00024106" "70" "3427" "0" "3427" "0" "c.3427G>A" "r.(?)" "p.(Gly1143Ser)" "" "0000618847" "00024106" "10" "3513" "0" "3513" "0" "c.3513A>G" "r.(?)" "p.(Gln1171=)" "" "0000618848" "00024106" "30" "3519" "0" "3519" "0" "c.3519T>G" "r.(?)" "p.(Gly1173=)" "" "0000618849" "00024106" "70" "3523" "0" "3525" "0" "c.3523_3525dup" "r.(?)" "p.(Pro1175dup)" "" "0000618850" "00024106" "90" "3656" "0" "3656" "0" "c.3656del" "r.(?)" "p.(Pro1219GlnfsTer86)" "" "0000618851" "00024106" "70" "3704" "0" "3704" "0" "c.3704G>A" "r.(?)" "p.(Gly1235Asp)" "" "0000618852" "00024106" "70" "3790" "1" "3790" "1" "c.3790+1G>A" "r.spl?" "p.?" "" "0000618853" "00024106" "30" "3808" "7" "3808" "7" "c.3808+7C>T" "r.(=)" "p.(=)" "" "0000618854" "00024106" "90" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Gln1295Ter)" "" "0000618855" "00024106" "30" "3897" "0" "3897" "0" "c.3897T>C" "r.(?)" "p.(Pro1299=)" "" "0000618856" "00024106" "70" "3942" "2" "3942" "2" "c.3942+2T>C" "r.spl?" "p.?" "" "0000618857" "00024106" "30" "4072" "0" "4072" "0" "c.4072C>A" "r.(?)" "p.(Leu1358Ile)" "" "0000618858" "00024106" "70" "4079" "0" "4079" "0" "c.4079G>A" "r.(?)" "p.(Gly1360Asp)" "" "0000618859" "00024106" "90" "4087" "0" "4087" "0" "c.4087G>A" "r.(?)" "p.(Gly1363Ser)" "" "0000618860" "00024106" "70" "4180" "0" "4180" "0" "c.4180G>T" "r.(?)" "p.(Gly1394Cys)" "" "0000618861" "00024106" "70" "4246" "0" "4246" "0" "c.4246C>T" "r.(?)" "p.(Arg1416Cys)" "" "0000618862" "00024106" "70" "4307" "0" "4307" "0" "c.4307G>A" "r.(?)" "p.(Gly1436Glu)" "" "0000618863" "00024106" "30" "4309" "0" "4309" "0" "c.4309C>G" "r.(?)" "p.(Gln1437Glu)" "" "0000618864" "00024106" "90" "4323" "0" "4324" "0" "c.4323_4324del" "r.(?)" "p.(Gly1442PhefsTer49)" "" "0000618865" "00024106" "50" "4388" "0" "4388" "0" "c.4388C>T" "r.(?)" "p.(Ser1463Phe)" "" "0000618866" "00024106" "70" "4457" "0" "4457" "0" "c.4457C>A" "r.(?)" "p.(Thr1486Lys)" "" "0000618867" "00024106" "30" "4476" "0" "4476" "0" "c.4476C>T" "r.(?)" "p.(Gly1492=)" "" "0000618868" "00024106" "30" "4529" "-6" "4529" "-6" "c.4529-6T>C" "r.(=)" "p.(=)" "" "0000618869" "00024106" "90" "4705" "0" "4705" "0" "c.4705C>T" "r.(?)" "p.(Arg1569Ter)" "" "0000618870" "00024106" "90" "4706" "0" "4706" "0" "c.4706G>A" "r.(?)" "p.(Arg1569Gln)" "" "0000618871" "00024106" "90" "5038" "0" "5038" "0" "c.5038C>T" "r.(?)" "p.(Arg1680Ter)" "" "0000618872" "00024106" "70" "5048" "0" "5048" "0" "c.5048G>A" "r.(?)" "p.(Arg1683Gln)" "" "0000624367" "00024106" "30" "547" "-7" "547" "-7" "c.547-7A>G" "r.(=)" "p.(=)" "" "0000624368" "00024106" "50" "1972" "0" "1972" "0" "c.1972A>C" "r.(?)" "p.(Thr658Pro)" "" "0000624369" "00024106" "50" "2348" "0" "2348" "0" "c.2348C>T" "r.(?)" "p.(Pro783Leu)" "" "0000624370" "00024106" "50" "3593" "0" "3593" "0" "c.3593C>T" "r.(?)" "p.(Pro1198Leu)" "" "0000624371" "00024106" "30" "4149" "0" "4149" "0" "c.4149T>C" "r.(?)" "p.(Pro1383=)" "" "0000652785" "00024106" "10" "1331" "0" "1331" "0" "c.1331T>G" "r.(?)" "p.(Ile444Ser)" "" "0000659036" "00024106" "50" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Gly54Asp)" "" "0000659037" "00024106" "30" "4309" "0" "4309" "0" "c.4309C>G" "r.(?)" "p.(Gln1437Glu)" "" "0000660426" "00024106" "90" "1949" "0" "1949" "0" "c.1949G>T" "r.(?)" "p.(Gly650Val)" "25" "0000660427" "00024106" "90" "3713" "0" "3713" "0" "c.3713G>T" "r.(?)" "p.(Gly1238Val)" "41" "0000660428" "00024106" "90" "4749" "0" "4750" "0" "c.4749_4750del" "r.(?)" "p.(His1583Glnfs*62)" "51" "0000670080" "00024106" "10" "1331" "0" "1331" "0" "c.1331T>G" "r.(?)" "p.(Ile444Ser)" "" "0000670081" "00024106" "10" "4293" "0" "4293" "0" "c.4293C>T" "r.(=)" "p.(=)" "" "0000682009" "00024106" "90" "322" "-2" "322" "-2" "c.322-2A>G" "r.spl?" "p.?" "" "0000682010" "00024106" "30" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Glu287=)" "" "0000682011" "00024106" "30" "2979" "0" "2979" "0" "c.2979T>G" "r.(?)" "p.(Pro993=)" "" "0000682012" "00024106" "30" "3957" "0" "3957" "0" "c.3957G>T" "r.(?)" "p.(Arg1319=)" "" "0000684827" "00024106" "30" "2858" "0" "2858" "0" "c.2858G>T" "r.(?)" "p.(Gly953Val)" "" "0000693270" "00024106" "70" "638" "0" "638" "0" "c.638G>T" "r.(?)" "p.(Gly213Val)" "" "0000693271" "00024106" "30" "3808" "7" "3808" "7" "c.3808+7C>T" "r.(=)" "p.(=)" "" "0000710717" "00024106" "90" "4315" "0" "4315" "0" "c.4315G>C" "r.(4315g>c)" "p.(Gly1439Arg)" "48" "0000728302" "00024106" "30" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74Trp)" "" "0000728303" "00024106" "30" "580" "0" "580" "0" "c.580A>G" "r.(?)" "p.(Ile194Val)" "" "0000728304" "00024106" "50" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Ile194Thr)" "" "0000728305" "00024106" "90" "1075" "0" "1075" "0" "c.1075G>T" "r.(?)" "p.(Gly359*)" "" "0000728306" "00024106" "50" "1427" "0" "1427" "0" "c.1427A>G" "r.(?)" "p.(Asp476Gly)" "" "0000728307" "00024106" "50" "1986" "0" "2003" "0" "c.1986_2003dup" "r.(?)" "p.(Lys664_Gly669dup)" "" "0000728308" "00024106" "30" "2017" "0" "2017" "0" "c.2017A>G" "r.(?)" "p.(Arg673Gly)" "" "0000728309" "00024106" "30" "2510" "-33" "2510" "-33" "c.2510-33A>G" "r.(=)" "p.(=)" "" "0000728310" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "" "0000728311" "00024106" "90" "3508" "0" "3508" "0" "c.3508G>A" "r.(?)" "p.(Gly1170Ser)" "" "0000728312" "00024106" "70" "3632" "0" "3632" "0" "c.3632G>A" "r.(?)" "p.(Gly1211Glu)" "" "0000728313" "00024106" "30" "3790" "9" "3790" "9" "c.3790+9G>A" "r.(=)" "p.(=)" "" "0000728314" "00024106" "30" "4072" "0" "4072" "0" "c.4072C>A" "r.(?)" "p.(Leu1358Ile)" "" "0000728315" "00024106" "70" "4962" "0" "4962" "0" "c.4962G>A" "r.(?)" "p.(Trp1654*)" "" "0000788039" "00024106" "90" "0" "0" "0" "0" "c.(3373+1_3374-1)_*1167{0}" "r.?" "p.?" "37i_53_" "0000788040" "00024106" "90" "1799" "0" "1799" "0" "c.1799G>T" "r.(?)" "p.(Gly600Val)" "" "0000788041" "00024106" "90" "609" "1" "609" "1" "c.609+1G>C" "r.spl" "p.?" "" "0000788042" "00024106" "90" "0" "0" "0" "0" "c.-282_(81+1_82-1){0}" "r.0?" "p.0?" "_1_1i" "0000789644" "00024106" "90" "3017" "-1" "4821" "1" "c.(3016+1_3017-1)_(4821+1_4822-1)del" "r.?" "p.?" "34i_51i" "0000790072" "00024106" "90" "2974" "0" "2974" "0" "c.2974C>T" "r.(?)" "p.(Gln992*)" "" "0000794901" "00024106" "90" "1210" "0" "1210" "0" "c.1210G>T" "r.(?)" "p.(Glu404*)" "" "0000795122" "00024106" "90" "1799" "0" "1799" "0" "c.1799del" "r.(?)" "p.(Gly600Valfs*18)" "" "0000795123" "00024106" "70" "2695" "0" "2695" "0" "c.2695G>T" "r.(?)" "p.(Gly899Cys)" "" "0000795124" "00024106" "90" "4734" "0" "4737" "0" "c.4734_4737del" "r.(?)" "p.(Val1579Serfs*27)" "" "0000809768" "00024106" "30" "-2145" "0" "-2145" "0" "c.-2145G>C" "r.(?)" "p.(=)" "" "0000809769" "00024106" "30" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Ser136Gly)" "" "0000809770" "00024106" "30" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Ser136Gly)" "" "0000809771" "00024106" "90" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Gly429Glu)" "" "0000809772" "00024106" "90" "1672" "0" "1672" "0" "c.1672G>C" "r.(?)" "p.(Gly558Arg)" "" "0000809773" "00024106" "30" "3736" "0" "3736" "0" "c.3736G>T" "r.(?)" "p.(Ala1246Ser)" "" "0000809774" "00024106" "30" "3923" "0" "3923" "0" "c.3923A>G" "r.(?)" "p.(Gln1308Arg)" "" "0000809775" "00024106" "50" "4414" "0" "4414" "0" "c.4414C>T" "r.(?)" "p.(Arg1472Cys)" "" "0000820215" "00024106" "70" "2315" "0" "2315" "0" "c.2315G>T" "r.(?)" "p.(Gly772Val)" "" "0000827859" "00024106" "50" "520" "0" "520" "0" "c.520G>C" "r.(?)" "p.(Gly174Arg)" "" "0000827860" "00024106" "90" "520" "0" "520" "0" "c.520G>C" "r.(?)" "p.(Gly174Arg)" "" "0000827862" "00024106" "90" "520" "0" "520" "0" "c.520G>C" "r.(?)" "p.(Gly174Arg)" "" "0000827863" "00024106" "90" "520" "0" "520" "0" "c.520G>C" "r.(?)" "p.(Gly174Arg)" "" "0000827864" "00024106" "90" "3032" "0" "3032" "0" "c.3032del" "r.(?)" "p.(Pro1011LeufsTer10)" "" "0000827865" "00024106" "90" "3032" "0" "3032" "0" "c.3032del" "r.(?)" "p.(Pro1011LeufsTer10)" "" "0000836729" "00024106" "90" "2677" "646" "2677" "646" "c.2677+646C>T" "r.2678_2767del" "p.Thr894_Gly923del" "" "0000836730" "00024106" "10" "2677" "487" "2677" "487" "c.2677+487C>A" "r.(=)" "p.(=)" "" "0000836731" "00024106" "90" "609" "879" "609" "879" "c.609+879A>G" "r.[=,609_610 ins609+751_609+878]" "p.[=,Gly204Valfs*7]" "10i" "0000836732" "00024106" "90" "2395" "1275" "2395" "1275" "c.[2395+1275C>G;2395+1292G>T]" "r.2395_2396ins2395+1308_2395+1360" "p.Gly799Alafs*15" "" "0000836733" "00024106" "90" "277" "-559" "277" "-559" "c.277-559A>G" "r.276_277ins277-595_277-538del" "p.Pro94Ilefs*7" "4i" "0000856264" "00024106" "10" "12" "0" "12" "0" "c.12T>G" "r.(?)" "p.(Arg4=)" "" "0000856265" "00024106" "10" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(Gly365=)" "" "0000856266" "00024106" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "" "0000856267" "00024106" "30" "1281" "0" "1281" "0" "c.1281G>A" "r.(?)" "p.(Gln427=)" "" "0000856268" "00024106" "30" "1752" "0" "1752" "0" "c.1752A>G" "r.(?)" "p.(Pro584=)" "" "0000856269" "00024106" "10" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(Leu685=)" "" "0000856270" "00024106" "10" "2349" "0" "2349" "0" "c.2349G>A" "r.(?)" "p.(Pro783=)" "" "0000856271" "00024106" "90" "2464" "0" "2464" "0" "c.2464G>A" "r.(?)" "p.(Gly822Arg)" "" "0000856272" "00024106" "10" "3553" "42" "3553" "42" "c.3553+42T>C" "r.(=)" "p.(=)" "" "0000856273" "00024106" "50" "4213" "0" "4213" "0" "c.4213C>G" "r.(?)" "p.(Pro1405Ala)" "" "0000856274" "00024106" "10" "4293" "0" "4293" "0" "c.4293C>T" "r.(?)" "p.(Asp1431=)" "" "0000856275" "00024106" "90" "4706" "1" "4706" "1" "c.4706+1G>A" "r.spl?" "p.?" "" "0000866967" "00024106" "90" "772" "0" "772" "0" "c.772G>T" "r.(?)" "p.(Gly258*)" "" "0000866968" "00024106" "30" "1272" "0" "1272" "0" "c.1272T>G" "r.(?)" "p.(Leu424=)" "" "0000866969" "00024106" "30" "1407" "0" "1407" "0" "c.1407A>G" "r.(?)" "p.(Gly469=)" "" "0000866970" "00024106" "90" "1854" "0" "1854" "0" "c.1854dup" "r.(?)" "p.(Pro619Alafs*15)" "" "0000866971" "00024106" "90" "2474" "0" "2474" "0" "c.2474G>A" "r.(?)" "p.(Gly825Glu)" "" "0000866972" "00024106" "50" "4909" "0" "4909" "0" "c.4909G>A" "r.(?)" "p.(Glu1637Lys)" "" "0000866973" "00024106" "30" "5010" "0" "5010" "0" "c.5010A>G" "r.(?)" "p.(Glu1670=)" "" "0000872575" "00024106" "90" "1423" "1175" "1423" "1175" "c.1423+1175G>T" "r.(1423_1424ins1423+1187_1423+1230)" "p.?" "" "0000873504" "00024106" "70" "3817" "0" "3817" "0" "c.3817G>T" "r.(?)" "p.(Gly1273Cys)" "" "0000873505" "00024106" "70" "901" "0" "901" "0" "c.901G>C" "r.(?)" "p.(Gly301Arg)" "" "0000873519" "00024106" "70" "232" "-6" "244" "0" "c.232-6_244del" "r.(?)" "p.(?)" "" "0000873562" "00024106" "70" "2215" "0" "2215" "0" "c.2215C>G" "r.(?)" "p.(Pro739Ala)" "" "0000873605" "00024106" "70" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Pro88Ser)" "" "0000873620" "00024106" "70" "5038" "0" "5038" "0" "c.5038C>T" "r.(?)" "p.(Arg1680*)" "" "0000873631" "00024106" "70" "465" "5" "465" "5" "c.465+5G>T" "r.(?)" "p.(?)" "" "0000873648" "00024106" "70" "3125" "0" "3125" "0" "c.3125G>T" "r.(?)" "p.(Gly1042Val)" "" "0000881211" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "" "0000881307" "00024106" "90" "4359" "0" "4359" "0" "c.4359del" "r.(?)" "p.(Gly1454GlufsTer94)" "" "0000881308" "00024106" "70" "2228" "0" "2228" "0" "c.2228G>T" "r.(?)" "p.(Gly743Val)" "" "0000881309" "00024106" "90" "845" "0" "845" "0" "c.845dup" "r.(?)" "p.(Gly283TrpfsTer2)" "" "0000895853" "00024106" "30" "232" "-17" "232" "-17" "c.232-17A>C" "r.(=)" "p.(=)" "" "0000895854" "00024106" "70" "277" "0" "277" "0" "c.277G>C" "r.(?)" "p.(Gly93Arg)" "" "0000895855" "00024106" "70" "547" "0" "547" "0" "c.547G>A" "r.(?)" "p.(Gly183Ser)" "" "0000895857" "00024106" "30" "687" "17" "687" "17" "c.687+17A>G" "r.(=)" "p.(=)" "" "0000895858" "00024106" "70" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" "" "0000895859" "00024106" "10" "1032" "17" "1032" "17" "c.1032+17del" "r.(=)" "p.(=)" "" "0000895860" "00024106" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Gly415Arg)" "" "0000895861" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "" "0000895862" "00024106" "90" "1978" "0" "2005" "0" "c.1978_2005dup" "r.(?)" "p.(Gly669Aspfs*11)" "" "0000895863" "00024106" "50" "2707" "0" "2707" "0" "c.2707C>T" "r.(?)" "p.(Pro903Ser)" "" "0000895864" "00024106" "30" "3029" "0" "3029" "0" "c.3029A>G" "r.(?)" "p.(Asn1010Ser)" "" "0000895865" "00024106" "30" "3647" "0" "3647" "0" "c.3647C>T" "r.(?)" "p.(Pro1216Leu)" "" "0000895866" "00024106" "70" "4180" "0" "4180" "0" "c.4180G>T" "r.(?)" "p.(Gly1394Cys)" "" "0000895867" "00024106" "50" "4282" "0" "4282" "0" "c.4282C>T" "r.(?)" "p.(Arg1428Cys)" "" "0000895868" "00024106" "90" "4454" "0" "4454" "0" "c.4454G>T" "r.(?)" "p.(Gly1485Val)" "" "0000895869" "00024106" "30" "4476" "0" "4476" "0" "c.4476C>T" "r.(?)" "p.(Gly1492=)" "" "0000895870" "00024106" "30" "4500" "0" "4500" "0" "c.4500A>G" "r.(?)" "p.(Gly1500=)" "" "0000895871" "00024106" "50" "4550" "0" "4550" "0" "c.4550G>A" "r.(?)" "p.(Arg1517His)" "" "0000915583" "00024106" "90" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "" "0000915584" "00024106" "90" "2510" "-1510" "2510" "-1510" "c.2510-1510A>G" "r.(=)" "p.(=)" "" "0000915585" "00024106" "90" "2659" "0" "2659" "0" "c.2659G>C" "r.(?)" "p.(Gly887Arg)" "" "0000915586" "00024106" "50" "2858" "0" "2858" "0" "c.2858G>T" "r.(?)" "p.(Gly953Val)" "" "0000915587" "00024106" "10" "2858" "0" "2858" "0" "c.2858G>T" "r.(?)" "p.(Gly953Val)" "" "0000915588" "00024106" "70" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Gly1018Ser)" "" "0000927242" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "" "0000927243" "00024106" "30" "2979" "0" "2979" "0" "c.2979T>G" "r.(?)" "p.(Pro993=)" "" "0000927245" "00024106" "30" "4267" "0" "4267" "0" "c.4267G>A" "r.(?)" "p.(Asp1423Asn)" "" "0000927246" "00024106" "50" "4799" "0" "4799" "0" "c.4799G>C" "r.(?)" "p.(Trp1600Ser)" "" "0000951655" "00024106" "90" "511" "0" "511" "0" "c.511G>C" "r.(?)" "p.(Gly171Arg)" "" "0000951657" "00024106" "70" "2219" "0" "2219" "0" "c.2219G>A" "r.(?)" "p.(Gly740Glu)" "" "0000951658" "00024106" "50" "2365" "0" "2365" "0" "c.2365A>T" "r.(?)" "p.(Thr789Ser)" "" "0000951659" "00024106" "50" "4898" "0" "4898" "0" "c.4898C>T" "r.(?)" "p.(Ala1633Val)" "" "0000951660" "00024106" "90" "5048" "0" "5048" "0" "c.5048G>A" "r.(?)" "p.(Arg1683Gln)" "" "0000954795" "00024106" "50" "4003" "0" "4003" "0" "c.4003C>T" "r.(?)" "p.(Pro1335Ser)" "" "0000957485" "00024106" "50" "4003" "0" "4003" "0" "c.4003C>T" "r.(?)" "p.(Pro1335Ser)" "45" "0000957486" "00024106" "50" "4003" "0" "4003" "0" "c.4003C>T" "r.(?)" "p.(Pro1335Ser)" "45" "0000957958" "00024106" "70" "2228" "0" "2228" "0" "c.2228G>C" "r.(?)" "p.(Gly743Ala)" "28" "0000970601" "00024106" "70" "152" "0" "152" "0" "c.152G>T" "r.(?)" "p.(Gly51Val)" "" "0000970602" "00024106" "30" "752" "0" "752" "0" "c.752T>C" "r.(?)" "p.(Ile251Thr)" "" "0000970603" "00024106" "90" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Gly579Arg)" "" "0000984378" "00024106" "30" "221" "0" "221" "0" "c.221G>A" "r.(?)" "p.(Arg74Gln)" "" "0000984379" "00024106" "50" "1648" "0" "1648" "0" "c.1648A>T" "r.(?)" "p.(Ile550Phe)" "" "0000984380" "00024106" "90" "2205" "0" "2205" "0" "c.2205dup" "r.(?)" "p.(Glu736Argfs*15)" "" "0000984381" "00024106" "70" "4529" "0" "4529" "0" "c.4529G>C" "r.(?)" "p.(Gly1510Ala)" "" "0000984382" "00024106" "50" "4955" "0" "4955" "0" "c.4955G>C" "r.(?)" "p.(Ser1652Thr)" "" "0000987154" "00024106" "90" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Gly624Asp)" "" "0000987806" "00024106" "90" "3088" "0" "3088" "0" "c.3088G>A" "r.(?)" "p.(Gly1030Ser)" "32" "0001006333" "00024106" "90" "439" "-6" "439" "-6" "c.439-6T>G" "r.(=)" "p.(=)" "" "0001006334" "00024106" "70" "439" "-2" "439" "-2" "c.439-2A>G" "r.spl?" "p.?" "" "0001006335" "00024106" "30" "4087" "11" "4087" "11" "c.4087+11T>C" "r.(=)" "p.(=)" "" "0001006336" "00024106" "30" "4216" "10" "4216" "10" "c.4216+10C>T" "r.(=)" "p.(=)" "" "0001006337" "00024106" "50" "4567" "0" "4567" "0" "c.4567C>A" "r.(?)" "p.(Pro1523Thr)" "" "0001015972" "00024106" "50" "-72" "0" "-72" "0" "c.-72A>G" "r.(?)" "p.(=)" "" "0001015973" "00024106" "70" "231" "2" "231" "2" "c.231+2T>C" "r.spl?" "p.?" "" "0001015974" "00024106" "30" "2215" "0" "2215" "0" "c.2215C>G" "r.(?)" "p.(Pro739Ala)" "" "0001015975" "00024106" "50" "4553" "0" "4553" "0" "c.4553G>A" "r.(?)" "p.(Arg1518His)" "" "0001027424" "00024106" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.?" "" "0001027425" "00024106" "70" "1199" "0" "1199" "0" "c.1199G>T" "r.(?)" "p.(Gly400Val)" "" "0001027426" "00024106" "70" "1690" "0" "1690" "0" "c.1690G>T" "r.(?)" "p.(Gly564Cys)" "" "0001027427" "00024106" "10" "2400" "0" "2400" "0" "c.2400T>C" "r.(?)" "p.(=)" "" "0001027428" "00024106" "70" "3455" "-324" "3455" "-324" "c.3455-324A>G" "r.(=)" "p.(=)" "" "0001027429" "00024106" "50" "3493" "0" "3493" "0" "c.3493G>A" "r.(?)" "p.(Glu1165Lys)" "" "0001044030" "00024106" "70" "276" "1364" "276" "1364" "c.276+1364A>G" "r.(=)" "p.(=)" "" "0001044031" "00024106" "90" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Gly292Arg)" "" "0001044032" "00024106" "50" "3386" "0" "3386" "0" "c.3386C>G" "r.(?)" "p.(Pro1129Arg)" "" "0001044033" "00024106" "70" "3454" "1" "3454" "1" "c.3454+1G>A" "r.spl?" "p.?" "" "0001044886" "00024106" "90" "368" "0" "368" "0" "c.368del" "r,(?)" "p.(Gly123AspfsTer32)" "" "0001044887" "00024106" "90" "796" "0" "796" "0" "c.796C>T" "r,(?)" "p.(Arg266Ter)" "" "0001045111" "00024106" "90" "780" "243" "780" "243" "c.780+243T>C" "r.spl" "p.?" "" "0001045112" "00024106" "90" "780" "5" "780" "5" "c.780+5G>A" "r.spl?" "p.?" "" "0001045113" "00024106" "90" "2510" "-2" "2510" "-2" "c.2510-2A>G" "r.spl" "p.?" "" "0001045114" "00024106" "30" "3604" "65" "3604" "65" "c.3604+65A>G" "r.(?)" "p.(=)" "" "0001045115" "00024106" "90" "4994" "1" "4994" "1" "c.4994+1G>A" "r.spl" "p.?" "" "0001045116" "00024106" "30" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74Trp)" "" "0001045117" "00024106" "30" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Pro88Ser)" "" "0001045118" "00024106" "90" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Gly213Glu)" "" "0001045119" "00024106" "30" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Pro214Leu)" "" "0001045120" "00024106" "90" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Gly227Ser)" "" "0001045121" "00024106" "70" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "" "0001045122" "00024106" "70" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "" "0001045123" "00024106" "70" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Gly426Arg)" "" "0001045124" "00024106" "70" "1499" "0" "1499" "0" "c.1499G>A" "r.(?)" "p.(Gly500Asp)" "" "0001045125" "00024106" "90" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Gly545Asp)" "" "0001045126" "00024106" "70" "1781" "0" "1781" "0" "c.1781G>T" "r.(?)" "p.(Gly594Val)" "" "0001045127" "00024106" "50" "2228" "0" "2228" "0" "c.2228G>A" "r.(?)" "p.(Gly743Asp)" "" "0001045128" "00024106" "70" "2314" "0" "2314" "0" "c.2314G>C" "r.(?)" "p.(Gly772Arg)" "" "0001045129" "00024106" "90" "2329" "0" "2329" "0" "c.2329C>A" "r.(?)" "p.(Arg777Ser)" "" "0001045130" "00024106" "90" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "" "0001045131" "00024106" "90" "2624" "0" "2624" "0" "c.2624G>A" "r.(?)" "p.(Gly875Glu)" "" "0001045132" "00024106" "90" "2678" "0" "2678" "0" "c.2678G>A" "r.(?)" "p.(Gly893Asp)" "" "0001045133" "00024106" "50" "3059" "0" "3059" "0" "c.3059T>C" "r.(?)" "p.(Ile1020Thr)" "" "0001045134" "00024106" "90" "3319" "0" "3319" "0" "c.3319G>A" "r.(?)" "p.(Gly1107Arg)" "" "0001045135" "00024106" "90" "3667" "0" "3667" "0" "c.3667G>A" "r.(?)" "p.(Gly1223Ser)" "" "0001045136" "00024106" "70" "3808" "0" "3808" "0" "c.3808G>T" "r.(?)" "p.(Gly1270Cys)" "" "0001045137" "00024106" "70" "3809" "0" "3809" "0" "c.3809G>A" "r.(?)" "p.(Gly1270Asp)" "" "0001045138" "00024106" "70" "72" "0" "81" "14" "c.72_81+14del" "r.?" "p.?" "" "0001045139" "00024106" "90" "3149" "0" "3149" "0" "c.3149del" "r.(?)" "p.(Pro1050Leufs*102)" "" "0001045140" "00024106" "90" "3986" "0" "3986" "0" "c.3986del" "r.(?)" "p.(Pro1329Leufs*12)" "" "0001045141" "00024106" "90" "2577" "0" "2577" "0" "c.2577del" "r.(?)" "p.(Gly860Valfs*15)" "" "0001045142" "00024106" "90" "3413" "0" "3413" "0" "c.3413del" "r.(?)" "p.(Pro1138Leufs*14)" "" "0001045143" "00024106" "90" "857" "0" "857" "0" "c.857del" "r.(?)" "p.(Gly286Valfs*60)" "" "0001045144" "00024106" "90" "4854" "0" "4855" "0" "c.4854_4855del" "r.(?)" "p.(Gln1618Hisfs*27)" "" "0001045145" "00024106" "90" "3413" "0" "3413" "0" "c.3413del" "r.(?)" "p.(Pro1138Leufs*14)" "" "0001045146" "00024106" "90" "3513" "0" "3513" "0" "c.3513del" "r.(?)" "p.(Asp1172Metfs*133)" "" "0001045147" "00024106" "90" "4961" "0" "4961" "0" "c.4961G>A" "r.(?)" "p.(Trp1654*)" "" "0001045148" "00024106" "90" "5047" "0" "5047" "0" "c.5047C>T" "r.(?)" "p.(Arg1683*)" "" "0001046834" "00024106" "30" "439" "-19" "439" "-19" "c.439-19C>A" "r.(=)" "p.(=)" "" "0001046835" "00024106" "90" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2400 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002096" "0000000209" "0000002097" "0000000209" "0000002098" "0000000209" "0000003157" "0000000209" "0000003158" "0000000209" "0000007435" "0000000210" "0000009559" "0000000210" "0000011146" "0000081023" "0000130109" "0000092521" "0000150957" "0000092522" "0000150958" "0000092523" "0000150959" "0000092524" "0000150960" "0000092525" "0000150961" "0000092526" "0000150962" "0000092527" "0000150963" "0000092528" "0000150964" "0000092529" "0000150965" "0000092530" "0000150966" "0000092531" "0000150967" "0000092532" "0000150968" "0000092533" "0000150969" "0000092534" "0000150970" "0000092535" "0000150971" "0000092536" "0000150972" "0000092537" "0000150973" "0000092538" "0000150974" "0000092539" "0000150975" "0000092540" "0000150976" "0000092541" "0000150977" "0000092542" "0000150978" "0000092543" "0000150979" "0000092544" "0000150980" 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