### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL4A4) # 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}}" "COL4A4" "collagen, type IV, alpha 4" "2" "q35-q37" "no" "LRG_231" "UD_132118910080" "" "http://www.LOVD.nl/COL4A4" "LRG_231t1 \r\n\r\nUK Alport genetic testing of COL4A4, COL4A3 and COL4A5 " "1" "2206" "1286" "120131" "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/COL4A4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-08-31 00:00:00" "00001" "2019-10-21 11:38:41" "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}}" "00005465" "COL4A4" "collagen, type IV, alpha 4" "001" "NM_000092.4" "" "NP_000083.3" "" "" "" "-654" "9687" "5073" "228029275" "227867427" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01169" "ATS3A" "Alport syndrome, type 3A, autosomal dominant" "AD" "104200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-02-15 12:42:26" "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" "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" "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" "" "" "07068" "BFH1" "hematuria, benign, familial, type 1" "AD" "141200" "" "" "" "00006" "2024-02-15 12:40:05" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "COL4A4" "01361" "COL4A4" "01644" "COL4A4" "05132" "COL4A4" "07068" ## Individuals ## Do not remove or alter this header ## ## Count = 718 "{{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}}" "00091829" "" "" "" "1" "" "00687" "{PMID:Gross 2003:12748344}" "" "M" "" "Germany" "" "0" "" "" "" "" "00091830" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "parents are cousin" "F" "yes" "" "" "0" "" "" "" "" "00091831" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "F" "" "" "" "0" "" "" "" "" "00091832" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "M" "" "" "" "0" "" "" "" "" "00091833" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "M" "" "" "" "0" "" "" "English" "" "00091834" "" "" "" "1" "" "00687" "{PMID:Dagher 2002:12325029}" "" "" "" "Australia" "" "0" "" "" "" "" "00091835" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Scottish" "" "00091836" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "M" "" "" "" "0" "" "" "" "" "00091837" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "M" "" "Australia" "" "0" "" "" "Tasmanian, British origin" "" "00091838" "" "" "" "1" "" "00687" "Judy Savige" "" "M" "" "" "" "0" "" "" "British" "" "00091839" "" "" "" "1" "" "00687" "Judy Savige" "" "M" "" "" "" "0" "" "" "British" "" "00091840" "" "" "" "1" "" "00687" "Judy Savige" "" "F" "" "" "" "0" "" "" "British" "" "00091841" "" "" "" "1" "" "00687" "Judy Savige" "" "F" "" "" "" "0" "" "" "British" "" "00091842" "" "" "" "2" "" "00687" "{PMID:Longo 2006:16338941}" "" "F" "yes" "Italy" "" "0" "" "" "" "" "00091843" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "F" "" "Spain" "" "0" "" "" "" "" "00091844" "" "" "" "1" "" "00687" "Judy Savige" "" "M" "" "" "" "0" "" "" "British" "" "00091845" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "M" "" "Australia" "" "0" "" "" "" "" "00091846" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "F" "" "Australia" "" "0" "" "" "British" "" "00091847" "" "" "" "1" "" "00687" "Judy Savige" "" "F" "" "" "" "0" "" "" "British" "" "00091848" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091849" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091850" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091851" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091852" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091853" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091854" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091855" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091856" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091857" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091858" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091859" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091860" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091861" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091862" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091863" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091864" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "F" "" "Spain" "" "0" "" "" "" "" "00091865" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091866" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091867" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091868" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091869" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091870" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "M" "" "Spain" "" "0" "" "" "" "" "00091871" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091872" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "M" "" "Spain" "" "0" "" "" "" "" "00091873" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091874" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091875" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091876" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091877" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091878" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091879" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091880" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "M" "" "Spain" "" "0" "" "" "" "" "00091881" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091882" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091883" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091884" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091885" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091886" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091887" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091888" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091889" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091890" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091891" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091892" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Australia" "" "0" "" "" "" "" "00091893" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091894" "" "" "" "1" "" "00687" "{PMID:Baek 2009:19675380}" "" "" "" "Korea" "" "0" "" "" "" "" "00091895" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "F" "" "" "" "0" "" "" "" "" "00091896" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "M" "" "" "" "0" "" "" "" "" "00091897" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "F" "" "Slovenia" "" "0" "" "" "" "" "00091898" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "M" "" "Slovenia" "" "0" "" "" "" "" "00091899" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "M" "" "Slovenia" "" "0" "" "" "" "" "00091900" "" "" "" "1" "" "00687" "{PMID:Buzza 2003:12631110}" "" "M" "" "China" "" "0" "" "" "" "" "00091901" "" "" "" "1" "" "00687" "{PMID:Buzza 2003:12631110}" "" "M" "" "China" "" "0" "" "" "" "" "00091902" "" "" "" "17" "" "00687" "{PMID:Gross 2003:12748344}" "large 4-generation family, 17 affecteds, patient D6" "M" "" "Germany" "" "0" "" "" "" "" "00091903" "" "" "00091902" "1" "" "00687" "{PMID:Gross 2003:12748344}" "large family, patient D5" "F" "" "Germany" "" "0" "" "" "" "" "00091904" "" "" "" "1" "" "00687" "{PMID:Lemmink 1996:8787673}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00091905" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "M" "" "Slovenia" "" "0" "" "" "" "" "00091906" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "F" "" "Slovenia" "" "0" "" "" "" "" "00091907" "" "" "00091902" "2" "" "00687" "{PMID:Gross 2003:12748344}" "large family, patientsB6/B6" "F;M" "" "Germany" "" "0" "" "" "" "" "00091908" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "F" "no" "Slovenia" "" "0" "" "" "" "" "00091909" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "M" "" "" "" "0" "" "" "" "" "00091910" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "F" "" "" "" "0" "" "" "" "" "00091911" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "F" "" "" "" "0" "" "" "" "" "00091912" "" "" "" "1" "" "00687" "Judy Savige" "" "M" "" "" "" "0" "" "" "British" "" "00091913" "" "" "" "1" "" "00687" "Judy Savige" "" "M" "" "" "" "0" "" "" "British" "" "00091914" "" "" "" "1" "" "00687" "{PMID:Mochizuki 1994:7987396}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00091915" "" "" "" "1" "" "00687" "(PMID:Longo 2006:16338941}" "" "M" "" "Italy" "" "0" "" "" "" "" "00091916" "" "" "" "1" "" "00687" "(PMID:Longo 2006:16338941}" "" "F" "yes" "New Zealand" "" "0" "" "" "Italian" "" "00091917" "" "" "" "1" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "F" "" "" "" "0" "" "" "" "" "00091918" "" "" "" "1" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "M" "" "" "" "0" "" "" "" "" "00091919" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00091920" "" "" "" "1" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "F" "" "" "" "0" "" "" "" "" "00091921" "" "" "" "1" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "F" "" "" "" "0" "" "" "" "" "00091922" "" "" "" "1" "" "00687" "{PMID:Mochizuki 1994:7987396}" "" "F" "" "Algeria" "" "0" "" "" "" "" "00091923" "" "" "" "2" "" "00687" "{PMID:Dagher 2002:12325029}" "" "" "yes" "" "" "0" "" "" "" "" "00091924" "" "" "" "1" "" "00687" "{PMID:Longo 2002:12028435}" "" "M" "" "Italy" "" "0" "" "" "" "" "00091925" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00091926" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "M" "" "Spain" "" "0" "" "" "" "" "00091927" "" "" "" "1" "" "00687" "{PMID:Ozen 2001:11685592}" "" "M" "" "Turkey" "" "0" "" "" "Turkish" "" "00091928" "" "" "" "1" "" "00687" "{PMID:Pescucci 2004:15086897}" "" "M" "" "" "" "0" "" "" "" "" "00091929" "" "" "" "1" "" "00687" "{PMID:Frasca 2005:15618242}" "" "F" "" "Italy" "" "0" "" "" "" "" "00091930" "" "" "" "2" "" "00687" "(PMID:Longo 2006:16338941}" "" "F" "" "Italy" "" "0" "" "" "" "" "00091931" "" "" "" "5" "" "00687" "{PMID:Buzza 2001:11473630}" "" "M" "" "Australia" "" "0" "" "" "" "" "00091932" "" "" "" "1" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "M" "" "" "" "0" "" "" "" "" "00091933" "" "" "" "1" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "M" "" "" "" "0" "" "" "" "" "00091934" "" "" "" "1" "" "00687" "{PMID:Rana 2007:17216251}" "" "F" "" "Australia" "" "0" "" "" "" "" "00091935" "" "" "" "1" "" "00687" "{PMID:Rana 2007:17216251}" "" "F" "" "" "" "0" "" "" "white" "" "00091936" "" "" "" "1" "" "00687" "{PMID:Frasca 2005:15618242}" "" "M" "" "Italy" "" "0" "" "" "" "" "00091937" "" "" "" "1" "" "00687" "{PMID:Frasca 2005:15618242}" "" "M" "" "Italy" "" "0" "" "" "" "" "00091938" "" "" "" "1" "" "00687" "{PMID:Pescucci 2004:15086897}" "Family history of renal impairment." "F" "" "" "" "0" "" "" "" "" "00091939" "" "" "" "1" "" "00687" "{PMID:Ciccarese 2001:11572889}" "" "F" "" "Italy" "" "0" "" "" "Sardinian" "" "00091940" "" "" "" "1" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "F" "" "" "" "0" "" "" "" "" "00091941" "" "" "" "1" "" "00687" "{PMID:Pierides 2009:19357112}" "" "" "" "Cyprus" "" "0" "" "" "Greek-Cypriot" "" "00091942" "" "" "" "1" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "M" "" "" "" "0" "" "" "" "" "00091943" "" "" "" "1" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "F" "" "" "" "0" "" "" "" "" "00091944" "" "" "" "2" "" "00687" "{PMID:Dagher 2002:12325029}" "" "" "" "" "" "0" "" "" "" "" "00091945" "" "" "" "1" "" "00687" "{PMID:Dagher 2002:12325029}" "" "F" "" "" "" "0" "" "" "white" "" "00091946" "" "" "" "1" "" "00687" "{PMID:Buzza 2003:12631110}" "" "" "" "" "" "0" "" "" "MS" "" "00091947" "" "" "" "1" "" "00687" "{PMID:Buzza 2003:12631110}" "" "F" "" "Taiwan" "" "0" "" "" "" "" "00091948" "" "" "" "1" "" "00687" "{PMID:Buzza 2003:12631110}" "" "" "" "Australia" "" "0" "" "" "" "" "00091949" "" "" "" "1" "" "00687" "{PMID:Buzza 2003:12631110}" "" "" "" "" "" "0" "" "" "" "" "00091950" "" "" "" "1" "" "00687" "{PMID:Buzza 2003:12631110}" "" "" "" "" "" "0" "" "" "" "" "00091951" "" "" "" "1" "" "00687" "{PMID:Buzza 2003:12631110}" "" "" "" "" "" "0" "" "" "" "" "00091952" "" "" "" "1" "" "00687" "{PMID:Buzza 2003:12631110}" "" "" "" "" "" "0" "" "" "" "" "00091953" "" "" "" "2" "" "00687" "{PMID:Buzza 2003:12631110}" "" "" "" "" "" "0" "" "" "" "" "00091954" "" "" "" "1" "" "00687" "{PMID:Buzza 2003:12631110}" "" "" "" "" "" "0" "" "" "" "" "00091955" "" "" "" "1" "" "00687" "{PMID:Buzza 2003:12631110}" "" "" "" "" "" "0" "" "" "RB" "" "00091956" "" "" "" "1" "" "00687" "{PMID:Buzza 2003:12631110}" "" "" "" "" "" "0" "" "" "" "" "00091957" "" "" "" "1" "" "00687" "{PMID:Buzza 2003:12631110}" "" "M" "" "" "" "0" "" "" "AC" "" "00091958" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "F" "" "" "" "0" "" "" "" "" "00091959" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "F" "" "" "" "0" "" "" "English" "" "00091960" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "some consanguinity in family" "F" "yes" "" "" "0" "" "" "" "" "00091961" "" "" "" "1" "" "00466" "{PMID:Storey 2013:24052634}" "" "F" "" "" "" "0" "" "" "" "" "00091962" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00091963" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00091964" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "" "" "Spain" "" "0" "" "" "" "" "00091965" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "" "" "Spain" "" "0" "" "" "" "" "00091966" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00091967" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00091968" "" "" "" "1" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "" "" "" "" "0" "" "" "" "" "00091969" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00091970" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00091971" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "" "" "Spain" "" "0" "" "" "" "" "00091972" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00091973" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00091974" "" "" "" "1" "" "00687" "{PMID:Nagel 2005:15954103}" "" "" "" "" "" "0" "" "" "" "" "00091975" "" "" "" "5" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "" "" "" "" "0" "" "" "" "" "00091976" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00091977" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "" "" "Spain" "" "0" "" "" "" "" "00091978" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "" "" "Spain" "" "0" "" "" "" "" "00091979" "" "" "" "1" "" "00687" "{PMID:Ozen 2001:11685592}" "" "F" "" "Turkey" "" "0" "" "" "Turkish" "" "00091980" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00091981" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00091982" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00091983" "" "" "" "1" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "" "" "" "" "0" "" "" "" "" "00091984" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00091985" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00091986" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00091987" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00091988" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00091989" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00091990" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00091991" "" "" "" "3" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "" "" "" "" "0" "" "" "" "" "00091992" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00091993" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "" "" "Spain" "" "0" "" "" "" "" "00091994" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00091995" "" "" "" "2" "" "00687" "{PMID:Frasca 2005:15618242}" "" "" "" "Italy" "" "0" "" "" "" "" "00091996" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00091997" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00091998" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00091999" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "" "" "Spain" "" "0" "" "" "" "" "00092000" "" "" "" "1" "" "00687" "{PMID:Dagher 2002:12325029}" "" "" "" "" "" "0" "" "" "" "" "00092001" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00092002" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00092003" "" "" "" "6" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "" "" "" "" "0" "" "" "" "" "00092004" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00092005" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00092006" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00092007" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00092008" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "" "" "Spain" "" "0" "" "" "" "" "00092009" "" "" "" "8" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "" "" "" "" "0" "" "" "" "" "00092010" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00092011" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "" "" "Spain" "" "0" "" "" "" "" "00092012" "" "" "" "8" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "" "" "" "" "0" "" "" "" "" "00092013" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00092014" "" "" "" "8" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "" "" "" "" "0" "" "" "" "" "00092015" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00092016" "" "" "" "8" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "" "" "" "" "0" "" "" "" "" "00092017" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "" "" "Spain" "" "0" "" "" "" "" "00092018" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00092019" "" "" "" "1" "" "00687" "{PMID:Nagel 2005:15954103}" "deletion" "" "" "" "" "0" "" "" "" "" "00092020" "" "" "" "8" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "" "" "" "" "0" "" "" "" "" "00092021" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00092022" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "" "" "Spain" "" "0" "" "" "" "" "00092023" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00092024" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00092025" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00092026" "" "" "" "1" "" "00687" "{PMID:Dagher 2002:12325029}" "" "" "" "" "" "0" "" "" "" "" "00092027" "" "" "" "8" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "" "" "" "" "0" "" "" "" "" "00092028" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "" "" "Spain" "" "0" "" "" "" "" "00092029" "" "" "" "1" "" "00687" "{PMID:Dagher 2002:12325029}" "" "" "" "" "" "0" "" "" "" "" "00092030" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00092031" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00092032" "" "" "" "1" "" "00687" "{PMID:Boye 1998:9792860}" "" "" "" "" "" "0" "" "" "" "" "00092033" "" "" "" "1" "" "00687" "{PMID:Rana 2007:17216251}" "" "" "" "" "" "0" "" "" "" "" "00092034" "" "" "" "1" "" "00687" "{PMID:Badenas 2002:11961012}" "" "" "" "Spain" "" "0" "" "" "" "" "00092035" "" "" "" "1" "" "00687" "{PMID:Slajpah 2007:17396119}" "" "" "" "Slovenia" "" "0" "" "" "" "" "00092036" "" "" "" "1" "" "00687" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Spain" "" "0" "" "" "" "" "00092037" "" "" "" "8" "" "00687" "{PMID:Marcocci 2009:19129241}" "" "" "" "" "" "0" "" "" "" "" "00092038" "" "" "" "1" "" "00687" "{PMID:Hou 2007:17726307}" "" "" "" "China" "" "0" "" "" "Han chinese" "" "00092039" "" "" "" "1" "" "00687" "{PMID:Hou 2007:17726307}" "" "" "" "China" "" "0" "" "" "Han chinese" "" "00092040" "" "" "" "1" "" "00687" "{PMID:Hou 2007:17726307}" "" "" "" "China" "" "0" "" "" "Han chinese" "" "00092041" "" "" "" "1" "" "00687" "{PMID:Hou 2007:17726307}" "" "" "" "China" "" "0" "" "" "Han chinese" "" "00092042" "" "" "" "1" "" "00687" "{PMID:Hou 2007:17726307}" "" "" "" "China" "" "0" "" "" "Han chinese" "" "00092043" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092044" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092045" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092046" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092047" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092048" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092049" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092050" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092051" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092052" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092053" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092054" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092055" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092056" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092057" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092058" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092059" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092060" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092061" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092062" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092063" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092064" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092065" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092066" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092067" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092068" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092069" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092070" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092071" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092072" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092073" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092074" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092075" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092076" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092077" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092078" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092079" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092080" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092081" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092082" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092083" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092084" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092085" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092086" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092087" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092088" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092089" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092090" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092091" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092092" "" "" "" "1" "" "00687" "" "" "" "" "" "" "0" "" "" "" "" "00092093" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092094" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092095" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092096" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092097" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092098" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092099" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092100" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092101" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092102" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092103" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092104" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092105" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092106" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092107" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092108" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092109" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092110" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092111" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092112" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092113" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092114" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092115" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092116" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092117" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092118" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092119" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092120" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092121" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092122" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092123" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092124" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092125" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092126" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092127" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092128" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092129" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092130" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092131" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092132" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092133" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092134" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092135" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092136" "" "" "" "1" "" "00687" "Matonagel" "F¸hrt zu einem Stopcodon bei 734" "" "" "" "" "0" "" "" "" "" "00092137" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092138" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092139" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092140" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092141" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092142" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092143" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092144" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092145" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092146" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092147" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092148" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092149" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092150" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092151" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092152" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092153" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092154" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092155" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092156" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092157" "" "" "" "1" "" "00687" "Judy Savige" "" "" "" "" "" "0" "" "" "" "" "00092158" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092159" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092160" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092161" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092162" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092163" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092164" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092165" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092166" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092167" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092168" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092169" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092170" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092171" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092172" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092173" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092174" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092175" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092176" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092177" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092178" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092179" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092180" "" "" "" "1" "" "00687" "Matonagel" "Die ehemalige Nomenklatur lautete Exon 43 p.S1400P (TCA>CCA)" "" "" "" "" "0" "" "" "" "" "00092181" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092182" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092183" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092184" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092185" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092186" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092187" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092188" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092189" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092190" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092191" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092192" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092193" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092194" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092195" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092196" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092197" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092198" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092199" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092200" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092201" "" "" "" "1" "" "00687" "Matonagel" "" "" "" "" "" "0" "" "" "" "" "00092202" "" "" "" "1" "" "01548" "" "" "F" "" "Hungary" "" "0" "" "" "" "" "00092203" "" "" "" "1" "" "01548" "" "" "F" "" "Hungary" "" "0" "" "" "" "" "00092204" "" "" "" "1" "" "01548" "" "" "F" "" "Hungary" "" "0" "" "" "" "" "00104028" "" "" "" "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-729A" "00152715" "" "" "" "1" "" "02367" "" "" "M" "no" "Czech Republic" "05y" "0" "" "" "" "" "00152717" "" "" "" "1" "" "02367" "" "" "F" "no" "Czech Republic" "39y" "0" "" "" "" "" "00152728" "" "" "" "1" "" "02367" "" "two siblings affected, unaffected parents" "F" "no" "Czech Republic" "40y" "" "" "" "white" "" "00152940" "" "" "" "1" "" "02367" "" "sporadic case" "F" "no" "Czech Republic" "32y" "" "" "" "white" "" "00153320" "" "" "" "1" "" "02367" "" "2-generation family, 3 affected members (3F)" "F" "no" "Czech Republic" "27y" "" "" "" "white" "" "00153321" "" "" "" "1" "" "02367" "" "2-generation family, 2 affected (2F)" "F" "no" "Czech Republic" "12y" "" "" "" "white" "" "00153323" "" "" "" "1" "" "02367" "" "2-generation family, 2 affected (2F)" "F" "no" "Czech Republic" "39y" "" "" "" "white" "" "00153324" "" "" "" "1" "" "02367" "" "3-generation family, 3 affected (1F, 2M)" "M" "no" "Czech Republic" "27y" "" "" "" "" "" "00153397" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153401" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153404" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153406" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153408" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153410" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153416" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153417" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153418" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153420" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153422" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153423" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153425" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153426" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153427" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153435" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153446" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153451" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153457" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153458" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153460" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153466" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153471" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153473" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153474" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153475" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153476" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153479" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153482" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153483" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153490" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153491" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153492" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153495" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153498" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153500" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153501" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153509" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153512" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153514" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153515" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153525" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153527" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153529" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153530" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153533" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153537" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153539" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153543" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153545" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153546" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153548" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153549" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153550" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153556" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153557" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153558" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153560" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153563" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153566" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153568" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153573" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153575" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153577" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153579" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153581" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153582" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153584" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153585" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153591" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153595" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153599" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153600" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153601" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153602" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153604" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153610" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153611" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153613" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153614" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153621" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153622" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153623" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153625" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153626" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153627" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153629" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153632" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153633" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153634" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153641" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153642" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153643" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153648" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153649" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153650" "" "" "" "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" "" "" "" "" "00153657" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153658" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153662" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153666" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153667" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153670" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153671" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153672" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153675" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153676" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153678" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153685" "" "" "" "3" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "3-generation family, 3 affecteds (3M), father and paternal uncle died with ESRF" "M" "" "" "" "0" "" "" "Europe" "" "00153715" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "F" "" "" "" "0" "" "" "Europe" "" "00153727" "" "" "" "1" "" "00687" "{PMID:Sirisena 2015:26194984}, {DOI:Sirisena 2015:10.1111/nep.12430}" "The third degree consanguineous parents each had a heterozygous form. 3 younger sisters of the proband (aged 11, 10 and 4.5 years) had haematuria and proteinuria with normal renal function." "M" "" "Sri Lanka" "" "0" "" "" "Sri Lankan" "" "00153737" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "Her mother at 64 yo with c.1504+1g>a, hematuria, no hearing loss; her father aged 80 with c.1293_1310del; p.Lys434_Gly439del, ESRD at 64. 7 paternal family members with c.1293_1310del; p.Lys434_Gly439del mutation 3 ESRD at 50, 60 and 64; 4 CRF at 47, 69, 70 and 80. None of the 7 had a hearing loss" "F" "" "" "" "0" "" "" "Europe" "" "00153741" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "His sister aged 60 has the same digenic mutations with hearing loss and had pre-emptive renal transplantation at 50 years. His two daughters, 23 and 20 years, each has one of the mutations, intermittent haematuria, no hearing loss" "M" "" "" "" "0" "" "" "Europe" "" "00153763" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "Her mother had c.2065g>a, hematuria, no hearing loss; her father had c.1459+1g>a, no hematuria, no hearing loss." "F" "" "" "" "0" "" "" "Europe" "" "00153786" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "M" "" "" "" "0" "" "" "Europe" "" "00153816" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "More severe phenotype than single mutation. Proband developed ESRF by 34 years." "F" "" "Italy" "" "0" "" "" "" "" "00153817" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "Proband developed ESRF by 52 years." "M" "" "Italy" "" "0" "" "" "" "" "00153837" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "F" "" "Italy" "" "0" "" "" "" "" "00153844" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "Father died at 21 with ESRF, index case developed ESRF at 40 with hearing loss; her mother has neither mutation" "F" "" "" "" "0" "" "" "Europe" "" "00153845" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153847" "" "" "" "1" "" "00687" "{PMID:Rosado 2014:25755845}" "Haematuria at age 30, proteinuria at 40. Her father diagnosed with ESRF at 75, with high tone hearing loss at 79" "M" "" "Spain" "" "0" "" "" "" "" "00153848" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153849" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother without mutation, father not available" "F" "" "Germany" "" "0" "" "" "" "" "00153850" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00153851" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153852" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00153853" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00153854" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153855" "" "" "" "1" "" "00687" "{PMID:Malone 2014:25229338}, {DOI:Malone 2014:10.1038/ki.2014.305}" "" "F" "" "United States" "" "0" "" "" "African American" "" "00153856" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "F" "" "Germany" "" "0" "" "" "" "" "00153857" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "F" "" "Germany" "" "0" "" "" "" "" "00153858" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153859" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00153860" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153861" "" "" "" "1" "" "00687" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00153862" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153863" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Father with TBMN" "M" "" "Germany" "" "0" "" "" "" "" "00153864" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153865" "" "" "" "1" "" "00687" "" "" "M" "" "Denmark" "" "0" "" "" "white" "" "00153866" "" "" "" "1" "" "00687" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "Haematuria at 31, proteinuria at 31. Another affected female aged 30, haematuria at 12, proteinuria at 29, no ESRD" "M" "" "Japan" "" "0" "" "" "" "" "00153867" "" "" "" "1" "" "00687" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "Haematuria at 42, proteinuria at 42" "F" "" "Japan" "" "0" "" "" "" "" "00153868" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153869" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153870" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "proband (subject II:2) progressed toward renal insufficiency at 34 years" "F" "" "Italy" "" "0" "" "" "" "" "00153872" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00153873" "" "" "" "1" "" "00687" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "Haematuria at 9, proteinuria at 20" "F" "" "Japan" "" "0" "" "" "" "" "00153874" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00153875" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00153876" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153877" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "F" "" "Germany" "" "0" "" "" "" "" "00153878" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "F" "" "" "" "0" "" "" "Europe" "" "00153879" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "M" "" "" "" "0" "" "" "Europe" "" "00153880" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00153881" "" "" "" "1" "" "00687" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "Haematuria at 27, proteinuria at 34. Also another affected male in the family, aged 29, with haematuria from age 6, proteinuria from 18" "M" "" "Japan" "" "0" "" "" "" "" "00153882" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153883" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother with TBMN" "M" "" "Germany" "" "0" "" "" "" "" "00153884" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00153885" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "Her mother with c.2065G>A has haematuria, no hearing loss; her father with c.1459+1G>A, has no haematuria and no hearing loss." "F" "" "" "" "0" "" "" "Europe" "" "00153886" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "M" "" "" "" "0" "" "" "Europe" "" "00153887" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153888" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "Asian (Arab)" "" "00153889" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "Asian (Arab)" "" "00153890" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "M" "" "" "" "0" "" "" "Europe" "" "00153891" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "M" "" "" "" "0" "" "" "Europe" "" "00153893" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "F" "" "" "" "0" "" "" "Europe" "" "00153894" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "M" "" "" "" "0" "" "" "Europe" "" "00153896" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "F" "" "Germany" "" "0" "" "" "" "" "00153897" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "M" "" "Germany" "" "0" "" "" "" "" "00153898" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "F" "" "Germany" "" "0" "" "" "" "" "00153899" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Father with TBMN" "M" "" "Germany" "" "0" "" "" "" "" "00153900" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00153901" "" "" "" "1" "" "00687" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00153902" "" "" "" "1" "" "00687" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00153903" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00153904" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00153905" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00153906" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00153907" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00153908" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00153909" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00153911" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "M" "" "" "" "0" "" "" "Europe" "" "00153913" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "M" "" "" "" "0" "" "" "Europe" "" "00153914" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153915" "" "" "" "1" "" "00687" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00153916" "" "" "" "1" "" "00687" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00153917" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00153918" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153919" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and son with TBMN" "F" "" "Germany" "" "0" "" "" "" "" "00153920" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Father with TBMN" "F" "yes" "Spain" "" "0" "" "" "" "" "00153921" "" "" "" "1" "" "00687" "{PMID:Ramzan 2014:24398087}, {DOI:Ramzan 2014:10.1016/j.ijporl.2013.12.008}" "Haematuria at 2 years, hearing loss at 7 years, renal biopsy with basket weave changes at 15 years, ESRD at 20 years, kidney transplant at 25. There are 2 other homozygous siblings (one male, one female) also with childhood onset, hearing loss, ESRF, and renal transplants at age 20 and 22." "F" "" "Saudi Arabia" "" "0" "" "" "" "" "00153922" "" "" "" "1" "" "00687" "" "" "F" "" "Denmark" "" "0" "" "" "Asian" "" "00153924" "" "" "" "1" "" "00687" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00153925" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00153926" "" "" "" "1" "" "00687" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00153927" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00153928" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Sister with Alport syndrome and ESRD at 42 years of age" "M" "" "Germany" "" "0" "" "" "" "" "00153929" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "F" "" "Germany" "" "0" "" "" "" "" "00153930" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00153931" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00153932" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153933" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00153934" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00153935" "" "" "" "1" "" "00687" "{PMID:Gast 201610.1093/ndt/gfv325}, {DOI:Gast 2016:10.1093/ndt/gfv325}" "Submitter considered pathogenic" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153936" "" "" "" "1" "" "00687" "{PMID:Malone 2014:25229338}, {DOI:Malone 2014:10.1038/ki.2014.305}" "" "F" "" "United States" "" "0" "" "" "white" "" "00153937" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "Father developed CRF at 21, ESRD at 40 with hearing loss; her mother has neither of the 2 mutations" "F" "" "" "" "0" "" "" "Europe" "" "00153938" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00153939" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00153940" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00153941" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00153942" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Father with Alport syndrome" "M" "" "Germany" "" "0" "" "" "" "" "00153943" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00153944" "" "" "" "1" "" "00687" "{PMID:Deng 2016:27934798}, {DOI:Deng 2016:10.4103/0971-5916.195026}" "most consistent with AD inheritance. This family had a milder phenotype than in Alport syndrome. Ten patients (II:1, II:3, II:5, II:7, III:7, III:9, III:10, III:12, III:14 and III:15) with this mutation had adult onset Alport syndrome . Two (II:5 and II:7) of the 10 patients progressed to ESRD at 60 and 56 yr of age. There were two currently asymptomatic male members (IV:4 and IV:5) with the heterozygous p.Gly1072Glufs*69 mutation, aged 11 and eight years old. The main clinical manifestation was haematuria, present in all patients. Proteinuria was present in four of 10 patients, and chronic kidney disease in two" "M" "" "China" "" "0" "" "" "Chinese" "" "00153945" "" "" "" "1" "" "00687" "{PMID:Deng 2016:27934798}, {DOI:Deng 2016:10.4103/0971-5916.195026}" "10 patients with this mutation had adult onset Alport syndrome. Two of the 10 progressed to ESRD at 60 and 56 yr of age. There were two currently asymptomatic male members (IV:4 and IV:5) with the heterozygous p.Gly1072Glufs*69 mutation aged 11 and 8. None of the 12 had a hearing loss or maculopathy." "M" "" "China" "" "0" "" "" "Chinese" "" "00153946" "" "" "" "1" "" "00687" "{PMID:Nishizawa 2016:26628290}, {DOI:Nishizawa 2016:10.1111/jog.12897}" "" "F" "" "" "" "0" "" "" "" "" "00153947" "" "" "" "1" "" "00687" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00153948" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "F" "" "" "" "0" "" "" "Europe" "" "00153949" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "M" "" "" "" "0" "" "" "Europe" "" "00153950" "" "" "" "1" "" "00687" "" "" "M" "" "Germany" "" "0" "" "" "European" "" "00153951" "" "" "" "1" "" "00687" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "Haematuria at 35, proteinuria at 35" "F" "" "Japan" "" "0" "" "" "" "" "00153952" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "index case (subject III:1) developed renal insufficiency at 52 years" "M" "" "Italy" "" "0" "" "" "" "" "00153953" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153954" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and maternal grandmother with Alport syndrome" "F" "" "Germany" "" "0" "" "" "" "" "00153955" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00153957" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "M" "" "" "" "0" "" "" "Europe" "" "00153958" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153959" "" "" "" "1" "" "00687" "" "" "F" "" "Germany" "" "0" "" "" "European" "" "00153960" "" "" "" "1" "" "00687" "" "" "" "" "Germany" "" "0" "" "" "Asian (Indian)" "" "00153961" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00153962" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00153963" "" "" "" "1" "" "00687" "{PMID:Guo 2017:28674241}, {DOI:Guo 201:10.1007/s12041-017-0786-7}" "Proband\'s 45-year-old uncle and 26-year-old sister have glomerular haematuriaand proteinuria, with renal impairment. They also had a mild sensorineural hearing loss. The father had undergone dialysis since the age of 60 and died of kidney failure at 62" "M" "" "China" "" "0" "" "" "Chinese" "" "00153964" "" "" "" "1" "" "00687" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "Haematuria at 23, proteinuria at 23" "M" "" "Japan" "" "0" "" "" "" "" "00153965" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00153966" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Son with TBMN" "M" "" "Germany" "" "0" "" "" "" "" "00153967" "" "" "" "1" "" "00687" "{PMID:Rosado 2014:25755845}" "Hearing loss at age of 6, haematuria and proteinuria at 28, macular flecks at 48. Her mother and brother had CKD" "F" "" "Spain" "" "0" "" "" "" "" "00153968" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00153969" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00153970" "" "" "" "1" "" "00687" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Hungary" "" "0" "" "" "Hungarian" "" "00153971" "" "" "" "1" "" "00687" "" "" "F" "" "Denmark" "" "0" "" "" "white" "" "00153972" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153973" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153974" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153975" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "His sister aged 60 years, has the same digenic mutations with hearing loss and had pre-emptive renal transplantation at 50 years. His two daughters, 23 and 20 years, each has one of the mutations, intermittent haematuria, no hearing loss." "M" "" "" "" "0" "" "" "Europe" "" "00153976" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "F" "" "" "" "0" "" "" "Europe" "" "00153978" "" "" "" "1" "" "00687" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "M" "" "" "" "0" "" "" "Europe" "" "00153979" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Two maternal aunts, maternal grandmother and maternal grand−grandfather have Alport syndrome" "F" "" "Germany" "" "0" "" "" "" "" "00153980" "" "" "" "1" "" "00687" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "Haematuria at 23, proteinuria at 23. Another affected 42 year old male, haematuria at 15, proteinuria at 15, no ESRD" "F" "" "Japan" "" "0" "" "" "" "" "00153981" "" "" "" "1" "" "00687" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00153982" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00153983" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153984" "" "" "" "1" "" "00687" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "F" "" "Italy" "" "0" "" "" "" "" "00153985" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Father with TBMN" "M" "" "Germany" "" "0" "" "" "" "" "00153986" "" "" "" "1" "" "00687" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "Mother and maternal grandmother with TBMN" "M" "" "Germany" "" "0" "" "" "" "" "00153987" "" "" "" "1" "" "00687" "" "" "M" "" "China" "" "0" "" "" "Chinese" "" "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" "" "" "" "" "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" "" "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" "" "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" "" "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" "" "00154292" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "Okinawan, white, Japanese, Chinese, Filipino" "" "00154310" "" "" "" "1" "" "00687" "" "" "M" "" "Mexico" "" "0" "" "" "" "" "00154376" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "Hispanic" "" "00206809" "" "" "" "1" "" "03107" "" "" "M" "no" "Japan" ">63y" "0" "" "" "" "J181114" "00247315" "" "" "" "5" "" "03364" "" "" "M" "?" "Croatia (Hrvatska)" "03y05m" "0" "" "" "white" "HR103B" "00292620" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292621" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296657" "" "" "" "1" "" "02367" "" "" "M" "no" "Czech Republic" "07y" "0" "" "" "" "" "00296661" "" "" "" "1" "" "02367" "" "" "F" "?" "Czech Republic" "49y" "0" "" "" "" "" "00296662" "" "" "" "1" "" "02367" "" "" "F" "no" "Czech Republic" "33y" "" "" "" "" "" "00308697" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00327385" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SH303-685" "00375235" "" "" "" "1" "" "04087" "" "" "F" "no" "Croatia (Hrvatska)" "" "" "" "" "" "" "00375236" "" "" "" "1" "" "04087" "" "" "M" "no" "Germany" "" "" "" "" "" "" "00375237" "" "" "" "1" "" "04087" "" "" "F" "no" "Macedonia" "" "" "" "" "" "" "00375238" "" "" "" "1" "" "04087" "" "" "F" "no" "Croatia (Hrvatska)" "" "" "" "" "" "" "00376455" "" "" "" "1" "" "04087" "" "" "F" "no" "" "" "" "" "" "" "" "00380768" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00395051" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "F" "" "(Italy)" "" "0" "" "" "" "K42" "00395052" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "F" "" "(Italy)" "" "0" "" "" "" "K42" "00401265" "" "" "" "1" "" "00006" "{PMID:Wang 2021:34508137}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "Fam1Pat1" "00402996" "" "" "" "1" "" "04087" "" "" "F" "" "" "" "" "" "" "" "12010178" "00402997" "" "" "" "1" "" "04087" "" "" "M" "" "" "" "" "" "" "" "11060199" "00402998" "" "" "" "1" "" "04087" "" "" "M" "" "" "" "" "" "" "" "12290513" "00402999" "" "" "" "1" "" "04087" "" "" "F" "" "" "" "" "" "" "" "11050418" "00403012" "" "" "" "1" "" "04087" "" "" "M" "" "" "" "" "" "" "" "10170136" "00410577" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "M" "" "Belgium" "" "0" "" "" "" "Pat39" "00411360" "" "" "" "3" "" "01164" "family, 3 affected (mother and 2 brothers)" "" "F" "no" "Germany" "" "0" "" "" "" "195758" "00414348" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP15" "00414376" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP43" "00414389" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP56" "00414390" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP57" "00414433" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP100" "00414468" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP135" "00414469" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP136" "00414472" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP139" "00418510" "" "" "" "1" "" "00006" "{PMID:He 2022:35121647}" "" "" "" "China" "" "0" "" "" "" "Fam7" "00432954" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00433398" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433399" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433400" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433401" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433402" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433403" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433404" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433405" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433406" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433407" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433408" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433409" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433410" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433411" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433412" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433413" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433414" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433415" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433416" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433417" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433418" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433419" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433420" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433421" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433422" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433423" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433424" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433425" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433426" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00433428" "" "" "" "13" "" "00006" "{PMID:Plevova 2023:36844206}" "4-generation family, 13 affected" "" "" "Czech Republic" "" "0" "" "" "Romani" "" "00433429" "" "" "" "1" "" "00006" "{PMID:Plevova 2023:36844206}" "female with one Romani parent" "" "" "Czech Republic" "" "0" "" "" "Romani" "" "00433430" "" "" "" "20" "" "00006" "{PMID:Plevova 2023:36844206}" "20 cases" "" "" "Czech Republic" "" "0" "" "" "Romani" "" "00433431" "" "" "" "68" "" "00006" "{PMID:Plevova 2023:36844206}" "68 cases" "" "" "Czech Republic" "" "0" "" "" "non-Romani" "" "00433432" "" "" "" "11" "" "00006" "{PMID:Plevova 2023:36844206}" "11 cases" "" "" "Czech Republic" "" "0" "" "" "Romani" "" "00435127" "" "" "" "2" "" "04510" "" "" "F" "no" "Algeria" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 717 "{{individualid}}" "{{diseaseid}}" "00091829" "01361" "00091830" "01644" "00091831" "01644" "00091832" "01644" "00091833" "01644" "00091834" "01644" "00091835" "01644" "00091836" "01644" "00091837" "01644" "00091838" "00000" "00091839" "00000" "00091840" "00000" "00091841" "00000" "00091842" "01644" "00091843" "01644" "00091844" "00000" "00091845" "01644" "00091846" "01644" "00091847" "00000" "00091848" "01361" "00091849" "01361" "00091850" "01361" "00091851" "01361" "00091852" "01361" "00091853" "01361" "00091854" "01361" "00091855" "01361" "00091856" "01361" "00091857" "01361" "00091858" "01361" "00091859" "01361" "00091860" "01361" "00091861" "01361" "00091862" "01361" "00091863" "01361" "00091864" "01361" "00091865" "01361" "00091866" "01361" "00091867" "01361" "00091868" "01361" "00091869" "01361" "00091870" "01361" 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"00414348" "00198" "00414376" "00198" "00414389" "00198" "00414390" "00198" "00414433" "00198" "00414468" "00198" "00414469" "00198" "00414472" "00198" "00418510" "00198" "00432954" "01361" "00433398" "05132" "00433399" "05132" "00433400" "05132" "00433401" "05132" "00433402" "05132" "00433403" "05132" "00433404" "05132" "00433405" "05132" "00433406" "05132" "00433407" "05132" "00433408" "05132" "00433409" "05132" "00433410" "05132" "00433411" "05132" "00433412" "05132" "00433413" "05132" "00433414" "05132" "00433415" "05132" "00433416" "05132" "00433417" "05132" "00433418" "05132" "00433419" "05132" "00433420" "05132" "00433421" "05132" "00433422" "05132" "00433423" "05132" "00433424" "05132" "00433425" "05132" "00433426" "05132" "00433428" "05132" "00433429" "05132" "00433430" "05132" "00433431" "05132" "00433432" "05132" "00435127" "01169" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01169, 01361, 01644, 03381, 04214, 05086, 05132, 05396, 07068 ## Count = 681 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000070161" "01361" "00091964" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070162" "01361" "00091965" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070163" "00000" "00091966" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070164" "01361" "00091926" "00687" "Unknown" "" "Micro-haematuria, macro- haematuria episodes, mild proteinuria, normal renal function; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070165" "01361" "00091848" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070166" "01644" "00091930" "00687" "Unknown" "" "micro-haematuria, proteinuria, normal renal function; no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070167" "00000" "00091967" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070168" "01169" "00091968" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070169" "01361" "00091948" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070170" "01361" "00091849" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070171" "01361" "00091850" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070172" "01361" "00091851" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070173" "01361" "00091852" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070174" "01361" "00091853" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070175" "01361" "00091854" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070176" "01361" "00091855" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070177" "01361" "00091856" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070178" "01361" "00091857" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070179" "01361" "00091858" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070180" "01644" "00091969" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070181" "01169" "00091924" "00687" "Unknown" "" "Micro-haematuria proteinuria, non-progressive CRF; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070182" "01361" "00091859" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070183" "01644" "00091970" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070184" "01361" "00091860" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070185" "01169" "00091921" "00687" "Unknown" "" "Micro-haematuria ,proteinuria renal failure. ; renal failure" "" "" "" "" "" "" "" "" "" "" "" "0000070186" "01169" "00091939" "00687" "Unknown" "" "Micro-haematuria. (family has hyperchol-esterolemia); 29y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070187" "01361" "00091971" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070188" "00000" "00091972" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070189" "01361" "00091861" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070190" "01361" "00091949" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070191" "01644" "00091973" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070192" "01644" "00091974" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070193" "01361" "00091929" "00687" "Unknown" "" "Micro-haematuria, macro-haematuria." "" "" "" "" "" "" "" "" "" "" "" "0000070194" "01644" "00091915" "00687" "Unknown" "" "Micro- haematuria, macro-haematuria, proteinuria, normal renal function;; no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070195" "01169" "00091975" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070196" "00000" "00091950" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070197" "01361" "00091862" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070198" "01361" "00091963" "00687" "Unknown" "" "renal failure;" "" "" "" "" "" "" "" "" "" "" "" "0000070199" "00000" "00091976" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070200" "01361" "00091977" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070201" "01361" "00091863" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070202" "01169" "00091940" "00687" "Unknown" "" "Micro/Macro-haematuria, proteinuria. ; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070203" "01169" "00091933" "00687" "Unknown" "" "Micro-haematuria, proteinuria.; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070204" "01361" "00091978" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070205" "00000" "00091979" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070206" "01644" "00091980" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070207" "01644" "00091981" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070208" "01644" "00091982" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070209" "01169" "00091983" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070210" "01361" "00091984" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070211" "00000" "00091985" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070212" "01361" "00091864" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070213" "01644" "00091986" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070214" "01644" "00091987" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070215" "01644" "00091902" "00687" "Familial, autosomal dominant" "" "Haematuria, proteinuria, progressive renal failure; hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070216" "01644" "00091903" "00687" "Familial, autosomal dominant" "" "haematuria, proteinuria, progressive renal failure; hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "0000070217" "01361" "00091907" "00687" "Familial, autosomal dominant" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070218" "01361" "00091919" "00687" "Unknown" "" "Micro-haematuria" "" "" "" "" "" "" "" "" "" "" "" "0000070219" "00000" "00091988" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070220" "01169" "00091917" "00687" "Unknown" "" "Micro-haehoturia/Proteinuria. ; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070221" "01361" "00091829" "00687" "Unknown" "" "Intermitant macrohaematuria, weak kidneys." "" "" "" "" "" "" "" "" "" "" "" "0000070222" "01169" "00091920" "00687" "Unknown" "" "micro-haematuria" "" "" "" "" "" "" "" "" "" "" "" "0000070223" "01361" "00091865" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070224" "01361" "00091866" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070225" "01361" "00091989" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070226" "01644" "00091916" "00687" "Unknown" "" "Micro- haematuria, proteinuria; ; 16y renal failure; hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "0000070227" "01361" "00091905" "00687" "Unknown" "" "Haematuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070228" "01644" "00091842" "00687" "Unknown" "" "26y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070229" "01361" "00091990" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070230" "01169" "00091932" "00687" "Unknown" "" "Micro-haematuria, proteinuria. ; 60y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "0000070231" "01361" "00091867" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070232" "01169" "00091991" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070233" "01361" "00091992" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070234" "01361" "00091993" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070235" "00000" "00091994" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070236" "01361" "00091868" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070237" "01361" "00091869" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070238" "01361" "00091870" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070239" "01644" "00091834" "00687" "Unknown" "" "21y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070240" "01361" "00091946" "00687" "Unknown" "" "Microhaematuria; no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070241" "01361" "00091936" "00687" "Unknown" "" "Micro-haematuria. ; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070242" "01644" "00091843" "00687" "Unknown" "" "27y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070243" "01361" "00091904" "00687" "Unknown" "" "Haematuria, proteinuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070244" "01361" "00091995" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070245" "01361" "00091951" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070246" "01644" "00091996" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070247" "01361" "00091897" "00687" "Unknown" "" "haematuria" "" "" "" "" "" "" "" "" "" "" "" "0000070248" "01644" "00091945" "00687" "Unknown" "" "Microhaematuria; hearing loss; ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070249" "01644" "00091997" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070250" "01361" "00091906" "00687" "Unknown" "" "Haematuria; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070251" "01169" "00091938" "00687" "Unknown" "" "Micro-haematuria. ; no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070252" "01361" "00091927" "00687" "Unknown" "" "Micro-haematuria, macro- haematuria episodes, mild proteinuria, normal renal function; hearing loss; no ocular phenotype" "" "" "" "" "" "" "" "" "" "" "" "0000070253" "01361" "00091871" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070254" "01361" "00091872" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070255" "01361" "00091947" "00687" "Unknown" "" "Microhaematuria; no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070256" "01644" "00091923" "00687" "Unknown" "" "Micro-haematuria ; 25y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070257" "01644" "00091944" "00687" "Unknown" "" "Microhaematuria; 24y renal failure; hearing loss; ocular changes; renal failure" "" "" "" "" "" "" "" "" "" "" "" "0000070258" "01361" "00091952" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070259" "01361" "00091873" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070260" "01361" "00091874" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070261" "01361" "00091953" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070262" "01361" "00091998" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070263" "01361" "00091875" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070264" "00000" "00091954" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070265" "01361" "00091999" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070266" "00000" "00092000" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070267" "00000" "00092001" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070268" "01361" "00092002" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070269" "01169" "00092003" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070270" "00000" "00092004" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070271" "01644" "00092005" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070272" "01361" "00091898" "00687" "Unknown" "" "Haematuria" "" "" "" "" "" "" "" "" "" "" "" "0000070273" "01361" "00091876" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070274" "01361" "00091877" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070275" "01361" "00091878" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070276" "01361" "00091879" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070277" "01361" "00091880" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070278" "01169" "00091943" "00687" "Unknown" "" "Microhaematuria, proteinuria. ; 60y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "0000070279" "01169" "00091942" "00687" "Unknown" "" "Microhaematuria, proteinuria. ; 45y renal failure; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070280" "01361" "00091899" "00687" "Unknown" "" "Haematuria" "" "" "" "" "" "" "" "" "" "" "" "0000070281" "01361" "00092006" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070282" "01361" "00091881" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070283" "01361" "00091955" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070284" "01361" "00092007" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070285" "01644" "00091882" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070286" "01361" "00092008" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070287" "01169" "00092009" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070288" "00000" "00092010" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070289" "01644" "00091922" "00687" "Unknown" "" "Micro-haematuria ; 14y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070290" "01644" "00091883" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070291" "01361" "00092011" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070292" "01169" "00092012" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070293" "00000" "00092013" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070294" "01644" "00091914" "00687" "Unknown" "" "Micro haematuria, albuminuria, renal failure ; 18y renal failure; no hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "0000070295" "01361" "00091884" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070296" "01361" "00091885" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070297" "01361" "00091886" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070298" "01169" "00092014" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070299" "01361" "00092015" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070300" "01361" "00091887" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070301" "01169" "00092016" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070302" "01361" "00092017" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070303" "00000" "00092018" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070304" "01361" "00091956" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070305" "01644" "00092019" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070306" "01361" "00091888" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070307" "01169" "00092020" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070308" "00000" "00092021" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070309" "01361" "00091931" "00687" "Unknown" "" "Micro-haematuria, proteinuria; no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070310" "01361" "00091957" "00687" "Unknown" "" "no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070311" "01361" "00091937" "00687" "Unknown" "" "Micro-haematuria. ; hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070312" "01361" "00091889" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070313" "01361" "00092022" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070314" "00000" "00092023" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070315" "01361" "00091890" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070316" "00000" "00092024" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070317" "01644" "00092025" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070318" "01169" "00091918" "00687" "Unknown" "" "Micro-haehoturia/Proteinuria. ; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070319" "01361" "00091891" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070320" "00198" "00092026" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070321" "01169" "00092027" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070322" "01361" "00092028" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070323" "01644" "00091892" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070324" "00000" "00092029" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070325" "01361" "00091900" "00687" "Unknown" "" "haematuria, albuminuria; ; no hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "0000070326" "01361" "00092030" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070327" "00000" "00092031" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070328" "01644" "00092032" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070329" "01361" "00092033" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070330" "01361" "00091893" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070331" "01169" "00091928" "00687" "Unknown" "" "Micro-haematuria, macro-haematuria, bilateral hypoacusis, normal renal function. ; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070332" "01361" "00092034" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070333" "01361" "00091901" "00687" "Unknown" "" "Haematuria, albuminuria; no hearing loss; renal failure" "" "" "" "" "" "" "" "" "" "" "" "0000070334" "01644" "00091894" "00687" "Unknown" "" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070335" "01361" "00092035" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070336" "00000" "00092036" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070337" "01169" "00092037" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070338" "01361" "00091934" "00687" "Unknown" "" "Micro-haematuria." "" "" "" "" "" "" "" "" "" "" "" "0000070339" "01361" "00091935" "00687" "Unknown" "" "Micro-haematuria." "" "" "" "" "" "" "" "" "" "" "" "0000070340" "00000" "00092038" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070341" "00000" "00092039" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070342" "00000" "00092040" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070343" "00000" "00092041" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070344" "00000" "00092042" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070345" "00198" "00091941" "00687" "Unknown" "" "microcopic haematuria, proteinuria, ESRD; FSGS-TGBM; renal failure" "" "" "" "" "" "" "" "" "" "" "" "0000070346" "00198" "00092043" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070347" "00198" "00092044" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070348" "00000" "00092045" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070349" "00198" "00092046" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070350" "00000" "00092047" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070351" "00198" "00092048" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070352" "00198" "00092049" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070353" "00198" "00092050" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070354" "00000" "00092051" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070355" "00198" "00092052" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070356" "00000" "00092053" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070357" "00198" "00092054" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070358" "00198" "00092055" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070359" "00000" "00092056" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070360" "00198" "00092057" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070361" "00000" "00092058" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070362" "00000" "00092059" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070363" "00000" "00092060" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070364" "00198" "00092061" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070365" "00198" "00092062" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070366" "00198" "00092063" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070367" "00000" "00092064" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070368" "00000" "00092065" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070369" "00198" "00092066" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070370" "00000" "00092067" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070371" "00000" "00092068" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070372" "00000" "00092069" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070373" "00000" "00092070" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070374" "00000" "00092071" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070375" "00198" "00092072" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070376" "00198" "00092073" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070377" "00198" "00092074" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070378" "00000" "00092075" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070379" "00000" "00092076" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070380" "00198" "00092077" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070381" "00000" "00092078" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070382" "00198" "00092079" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070383" "00000" "00092080" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070384" "00198" "00092081" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070385" "00198" "00092082" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070386" "00000" "00092083" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070387" "00198" "00092084" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070388" "00000" "00092085" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070389" "00198" "00092086" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070390" "00000" "00092087" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070391" "00198" "00092088" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070392" "00000" "00092089" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070393" "00198" "00092090" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070394" "00198" "00092091" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070395" "00000" "00092092" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070396" "01361" "00091925" "00687" "Unknown" "" "Micro-haematuria, hypoacusis" "" "" "" "" "" "" "" "" "" "" "" "0000070397" "01644" "00091895" "00466" "Unknown" "15y" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070398" "01644" "00091896" "00466" "Unknown" "10y" "glomerulus abnormal;" "" "" "" "" "" "" "" "" "" "" "" "0000070399" "01644" "00091958" "00466" "Unknown" "20y" "no hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070400" "01644" "00091908" "00466" "Unknown" "30y" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070401" "01644" "00091960" "00466" "Unknown" "20y" "no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070402" "01644" "00091961" "00466" "Unknown" "42y" "no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070403" "01644" "00091909" "00466" "Unknown" "20y" "hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070404" "01644" "00091831" "00466" "Unknown" "23y" "17y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070405" "01644" "00091836" "00466" "Unknown" "39y" "22y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070406" "01644" "00091910" "00466" "Unknown" "41y" "hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070407" "01644" "00091832" "00466" "Unknown" "36y" "18y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070408" "01644" "00091911" "00466" "Unknown" "35y" "hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070409" "01644" "00091959" "00466" "Unknown" "32y" "no hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070410" "01644" "00091835" "00466" "Unknown" "46y" "21y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070411" "01644" "00091833" "00466" "Unknown" "29y" "20y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070412" "01644" "00091830" "00466" "Unknown" "17y" "12y renal failure; hearing loss; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070413" "01644" "00091837" "00466" "Unknown" "30y" "23y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070414" "01644" "00091845" "00466" "Unknown" "32y" "28y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "0000070415" "01644" "00091846" "00466" "Unknown" "" "35y renal failure; renal failure" "" "" "" "" "" "" "" "" "" "" "" "0000070416" "00000" "00092093" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070417" "00000" "00092094" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070418" "00000" "00092095" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070419" "00000" "00092096" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070420" "00000" "00092097" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070421" "00000" "00092098" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070422" "00000" "00092099" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070423" "00000" "00092100" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070424" "00000" "00092101" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070425" "00000" "00092102" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070426" "00000" "00092103" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070427" "00000" "00092104" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070428" "00000" "00092105" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070429" "00000" "00092106" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070430" "00000" "00092107" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070431" "00000" "00092108" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070432" "00000" "00092109" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070433" "00000" "00092110" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070434" "00000" "00092111" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070435" "00000" "00092112" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070436" "00000" "00092113" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070437" "00000" "00091838" "00687" "Unknown" "" "23y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070438" "00000" "00092114" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070439" "00000" "00092115" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070440" "00000" "00092116" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070441" "00000" "00092117" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070442" "00000" "00092118" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070443" "00000" "00092119" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070444" "00000" "00092120" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070445" "00000" "00092121" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070446" "00000" "00092122" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070447" "00000" "00092123" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070448" "00000" "00092124" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070449" "00000" "00092125" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070450" "00000" "00092126" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070451" "00000" "00092127" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070452" "00000" "00092128" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070453" "00000" "00092129" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070454" "00000" "00092130" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070455" "00000" "00092131" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070456" "00000" "00092132" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070457" "00000" "00092133" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070458" "00000" "00092134" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070459" "00000" "00092135" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070460" "00000" "00092136" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070461" "00000" "00092137" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070462" "00000" "00092138" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070463" "00000" "00092139" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070464" "00000" "00092140" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070465" "00000" "00092141" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070466" "00000" "00092142" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070467" "00000" "00092143" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070468" "00000" "00092144" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070469" "00000" "00092145" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070470" "00000" "00092146" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070471" "00000" "00091839" "00687" "Unknown" "" "23y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070472" "00000" "00092147" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070473" "00000" "00092148" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070474" "00000" "00092149" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070475" "00000" "00092150" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070476" "00000" "00092151" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070477" "00000" "00092152" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070478" "00000" "00092153" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070479" "00000" "00092154" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070480" "00000" "00092155" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070481" "00000" "00092156" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070482" "00000" "00092157" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070483" "00000" "00092158" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070484" "00000" "00091962" "00687" "Unknown" "" "Proband, female cousin and 2 paternal aunts are heterozygous for the mutation and have mild haematuria. Father, paternal grandmother and one paternal aunt reached ESRD at 30, 54, and 42 yrs. No ocular or hearing abnormalities observed in any family member." "" "" "" "" "" "" "" "" "" "" "" "0000070485" "00000" "00091847" "00687" "Unknown" "" "35y renal failure?; hearing loss; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070486" "00000" "00092159" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070487" "00000" "00092160" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070488" "00000" "00092161" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070489" "00000" "00091912" "00687" "Unknown" "" "hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070490" "00000" "00091844" "00687" "Unknown" "" "28y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070491" "00000" "00091913" "00687" "Unknown" "" "hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070492" "00000" "00091841" "00687" "Unknown" "" "25y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000070493" "00000" "00091840" "00687" "Unknown" "" "24y renal failure; hearing loss; renal failure, glomerulus normal" "" "" "" "" "" "" "" "" "" "" "" "0000070494" "00000" "00092162" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070495" "00000" "00092163" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070496" "00000" "00092164" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070497" "00000" "00092165" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070498" "00000" "00092166" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070499" "00000" "00092167" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070500" "00000" "00092168" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070501" "00000" "00092169" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070502" "00000" "00092170" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070503" "00000" "00092171" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070504" "00000" "00092172" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070505" "00000" "00092173" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070506" "00000" "00092174" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070507" "00000" "00092175" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070508" "00000" "00092176" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070509" "00000" "00092177" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070510" "00000" "00092178" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070511" "00000" "00092179" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070512" "00000" "00092180" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070513" "00000" "00092181" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070514" "00000" "00092182" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070515" "00000" "00092183" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070516" "00000" "00092184" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070517" "00000" "00092185" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070518" "00000" "00092186" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070519" "00000" "00092187" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070520" "00000" "00092188" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070521" "00000" "00092189" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070522" "00000" "00092190" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070523" "00000" "00092191" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070524" "00000" "00092192" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070525" "00000" "00092193" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070526" "00000" "00092194" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070527" "00000" "00092195" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070528" "00000" "00092196" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070529" "00000" "00092197" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070530" "00000" "00092198" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070531" "00000" "00092199" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070532" "00000" "00092200" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070533" "00000" "00092201" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070534" "00198" "00092202" "01548" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070535" "00198" "00092203" "01548" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070536" "00198" "00092204" "01548" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081962" "03381" "00104028" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000125658" "05132" "00152715" "02367" "Familial, X-linked dominant" "05y" "microscopic hematuria, hearing loss\r\nmother- microscopic hematuria, \r\nmother´s father -microscopic hematuria, ESRD; his mother - microscopic hematuria" "<03y" "05y" "<3y" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000125660" "05132" "00152717" "02367" "Familial, autosomal dominant" "39y" "hematuria, proteinuria, skin biopsy-AS; father - renal disease" "<18y" "39y" "<18y" "" "" "" "" "" "TBMN" "Alport syndrome" "" "0000125671" "05132" "00152728" "02367" "Familial, autosomal dominant" "40y" "microscopic hematuria (HP:0002907)" "<19y" "19y" "microscopic hematuria (HP:0002907)" "" "" "" "" "" "Thin basement membrane nephropathy" "Alport syndrome" "" "0000125674" "05132" "00152940" "02367" "Familial, autosomal dominant" "32y" "microscopic hematuria (HP:0002907)" "" "" "" "" "" "" "" "" "Thin basement membrane nephropathy" "Thin basement membrane nephropathy" "" "0000126001" "05132" "00153320" "02367" "Familial, autosomal dominant" "27y" "microscopic hematuria (HP:0002907)" "<10y" "" "microscopic hematuria (HP:0002907)" "" "" "" "" "" "Thin basement membrane nephropathy" "Thin basement membrane nephropathy" "" "0000126002" "05132" "00153321" "02367" "Familial, autosomal dominant" "12y" "microscopic hematuria (HP:0002907), high-frequency hearing impairment HP:0005101" "<05y" "12y" "microscopic hematuria (HP:0002907)" "" "" "" "" "" "Thin basement membrane nephropathy" "Alport syndrome" "" "0000126004" "05132" "00153323" "02367" "Familial, autosomal recessive" "44y" "Macroscopic hematuria (HP:0012587), microscopic hematuria (HP:0002907), proteinuria (HP:0000093), sensorineural deafness, late-onset (HP:0008615)" "03y" "39y" "Macroscopic hematuria (HP:0012587)" "" "" "" "" "" "Alport syndrome" "Alport syndrome" "" "0000126005" "05132" "00153324" "02367" "Familial, autosomal dominant" "27y" "microscopic hematuria (HP:0002907)" "?" "?" "microscopic hematuria (HP:0002907)" "" "" "" "" "" "Thin basement membrane nephropathy" "Familial hematuria" "" "0000126074" "01644" "00153397" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126078" "01644" "00153401" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126081" "01644" "00153404" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126083" "01644" "00153406" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126085" "01644" "00153408" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126087" "01644" "00153410" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126093" "01644" "00153416" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126094" "01644" "00153417" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126095" "01644" "00153418" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126097" "01644" "00153420" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126099" "01644" "00153422" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126100" "01644" "00153423" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126102" "01644" "00153425" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126103" "01644" "00153426" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126104" "01644" "00153427" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126112" "01644" "00153435" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126123" "01644" "00153446" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126128" "01644" "00153451" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126134" "01644" "00153457" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126135" "01644" "00153458" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126137" "01644" "00153460" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126143" "01644" "00153466" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126148" "01644" "00153471" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126150" "01644" "00153473" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126151" "01644" "00153474" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126152" "01644" "00153475" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126153" "01644" "00153476" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126156" "01644" "00153479" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126159" "01644" "00153482" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126160" "01644" "00153483" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126167" "01644" "00153490" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126168" "01644" "00153491" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126169" "01644" "00153492" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126172" "01644" "00153495" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126175" "01644" "00153498" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126177" "01644" "00153500" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126178" "01644" "00153501" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126186" "01644" "00153509" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126189" "01644" "00153512" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126191" "01644" "00153514" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126192" "01644" "00153515" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126202" "01644" "00153525" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126204" "01644" "00153527" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126206" "01644" "00153529" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126207" "01644" "00153530" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126210" "01644" "00153533" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126214" "01644" "00153537" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126216" "01644" "00153539" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126220" "01644" "00153543" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126222" "01644" "00153545" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126223" "01644" "00153546" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126225" "01644" "00153548" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126226" "01644" "00153549" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126227" "01644" "00153550" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126233" "01644" "00153556" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126234" "01644" "00153557" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126235" "01644" "00153558" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126237" "01644" "00153560" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126240" "01644" "00153563" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126243" "01644" "00153566" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126245" "01644" "00153568" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126250" "01644" "00153573" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126252" "01644" "00153575" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126254" "01644" "00153577" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126256" "01644" "00153579" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126258" "01644" "00153581" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126259" "01644" "00153582" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126261" "01644" "00153584" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126262" "01644" "00153585" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126268" "01644" "00153591" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126272" "01644" "00153595" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126276" "01644" "00153599" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126277" "01644" "00153600" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126278" "01644" "00153601" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126279" "01644" "00153602" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126281" "01644" "00153604" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126287" "01644" "00153610" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126288" "01644" "00153611" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126290" "01644" "00153613" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126291" "01644" "00153614" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126298" "01644" "00153621" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126299" "01644" "00153622" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126300" "01644" "00153623" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126302" "01644" "00153625" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126303" "01644" "00153626" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126304" "01644" "00153627" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126306" "01644" "00153629" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126309" "01644" "00153632" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126310" "01644" "00153633" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126311" "01644" "00153634" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126318" "01644" "00153641" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126319" "01644" "00153642" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126320" "01644" "00153643" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126325" "01644" "00153648" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126326" "01644" "00153649" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126327" "01644" "00153650" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126330" "01644" "00153653" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126331" "01644" "00153654" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126334" "01644" "00153657" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126335" "01644" "00153658" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126339" "01644" "00153662" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126343" "01644" "00153666" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126344" "01644" "00153667" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126347" "01644" "00153670" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126348" "01644" "00153671" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126349" "01644" "00153672" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126352" "01644" "00153675" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126353" "01644" "00153676" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126355" "01644" "00153678" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126362" "01644" "00153685" "00687" "Di-genic" "45y" "32y-hearing loss (HP:0000365); hematuria (HP:0000790); proteinuria (HP:0000093), end-stage renal disease; 40y-father died with ESRD, 61y-paternal uncle died with ESRD" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126392" "01644" "00153715" "00687" "Unknown" "36y" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126404" "01644" "00153727" "00687" "Familial, autosomal recessive" "14y" "hearing loss (HP:0000365); no ocular changes; 14y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal recessive (ASAR)" "Alport syndrome" "" "0000126414" "01644" "00153737" "00687" "Unknown" "36y" "no hearing loss (-HP:0000365); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126418" "01644" "00153741" "00687" "Unknown" "55y" "hearing loss (HP:0000365); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126440" "01644" "00153763" "00687" "Unknown" "3y" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126463" "01644" "00153786" "00687" "Unknown" "7y" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126493" "05132" "00153816" "00687" "Unknown" "53y" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology thinning, thickening and splitting; 52y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126494" "05132" "00153817" "00687" "Unknown" "37y" "no hearing loss (-HP:0000365); no ocular changes; 34y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126514" "05132" "00153837" "00687" "Unknown" "49y" "no hearing loss (-HP:0000365); no ocular changes; 49y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126521" "01644" "00153844" "00687" "Unknown" "37y" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126524" "01169" "00153847" "00687" "Familial, autosomal dominant" "55y" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal dominant (ASAD)" "Alport syndrome" "" "0000126525" "01644" "00153848" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126526" "01361" "00153849" "00687" "Unknown" "9y" "no hearing loss (-HP:0000365); no ocular changes; no hematuria (-HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126527" "01644" "00153850" "00687" "Unknown" "11y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126528" "01644" "00153851" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126529" "01644" "00153852" "00687" "Unknown" "32y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126530" "01644" "00153853" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126531" "01644" "00153854" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126532" "05396" "00153855" "00687" "Unknown" "35y" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology thickened; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "glomerulosclerosis, segmental, focal (FSGS)" "" "0000126533" "01644" "00153856" "00687" "Unknown" "34y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126534" "01644" "00153857" "00687" "Unknown" "31y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126535" "01644" "00153858" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126536" "01644" "00153859" "00687" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126537" "01644" "00153860" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126538" "01644" "00153861" "00687" "Familial, autosomal recessive" "13y" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology Basket-weave changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal recessive (ASAR)" "Alport syndrome" "" "0000126539" "01644" "00153862" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126540" "01361" "00153863" "00687" "Unknown" "15y" "no hearing loss (-HP:0000365); no ocular changes; no hematuria (-HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126541" "01644" "00153864" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126542" "01644" "00153865" "00687" "Unknown" "62y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126543" "01169" "00153866" "00687" "Familial, autosomal dominant" "61y" "GBM pathology thinning, lamellation; 58y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal dominant (ASAD)" "Alport syndrome" "" "0000126544" "01361" "00153867" "00687" "Unknown" "64y" "GBM pathology thinning; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126545" "01644" "00153868" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126546" "01644" "00153869" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126547" "05132" "00153870" "00687" "Unknown" "53y" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology thinning, thickening and splitting; 52y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126549" "01644" "00153872" "00687" "Unknown" "27y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126550" "01361" "00153873" "00687" "Unknown" "49y" "GBM pathology thinning; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126551" "01644" "00153874" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome;thin basement membrane nephropathy" "" "0000126552" "01644" "00153875" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126553" "01644" "00153876" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126554" "01644" "00153877" "00687" "Unknown" "31y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126555" "01644" "00153878" "00687" "Unknown" "36y" "no hearing loss (-HP:0000365); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126556" "01644" "00153879" "00687" "Unknown" "80y" "no hearing loss (-HP:0000365); 64y-renal failure (HP:0000083); hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126557" "01644" "00153880" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome;thin basement membrane nephropathy" "" "0000126558" "01361" "00153881" "00687" "Unknown" "66y" "GBM pathology thinning, splitting, lamellation; 59y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126559" "01644" "00153882" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126560" "01361" "00153883" "00687" "Unknown" "13y" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126561" "01644" "00153884" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126562" "01644" "00153885" "00687" "Unknown" "3y" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126563" "01644" "00153886" "00687" "Unknown" "" "no hearing loss (-HP:0000365)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126564" "01644" "00153887" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126565" "01644" "00153888" "00687" "Unknown" "9y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126566" "01644" "00153889" "00687" "Unknown" "32y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126567" "01644" "00153890" "00687" "Unknown" "7y" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126568" "01644" "00153891" "00687" "Unknown" "43y" "no hematuria (-HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126570" "01644" "00153893" "00687" "Unknown" "32y" "no hearing loss (-HP:0000365); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126571" "01644" "00153894" "00687" "Unknown" "17y" "no hearing loss (-HP:0000365); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126573" "01644" "00153896" "00687" "Unknown" "32y" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126574" "01361" "00153897" "00687" "Unknown" "25y" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126575" "01644" "00153898" "00687" "Unknown" "23y" "hearing loss (HP:0000365); no ocular changes" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126576" "01361" "00153899" "00687" "Unknown" "5y" "no hearing loss (-HP:0000365); no ocular changes; no hematuria (-HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126577" "01644" "00153900" "00687" "Unknown" "18y" "hearing loss (HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "18y" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126578" "01644" "00153901" "00687" "Unknown" "36y" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "32y" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126579" "01644" "00153902" "00687" "Familial, autosomal recessive" "3y" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology Basket-weave changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal recessive (ASAR)" "Alport syndrome" "" "0000126580" "01644" "00153903" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126581" "01644" "00153904" "00687" "Unknown" "14y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126582" "01644" "00153905" "00687" "Unknown" "15y" "10y-renal failure (HP:0000083)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126583" "01644" "00153906" "00687" "Unknown" "24y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126584" "01644" "00153907" "00687" "Unknown" "44y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126585" "01644" "00153908" "00687" "Unknown" "69y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126586" "01644" "00153909" "00687" "Unknown" "17y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126588" "01644" "00153911" "00687" "Unknown" "11y" "no hearing loss (-HP:0000365); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126590" "01644" "00153913" "00687" "Unknown" "65y" "no hearing loss (-HP:0000365)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126591" "01644" "00153914" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126592" "01644" "00153915" "00687" "Familial, autosomal recessive" "16y" "hearing loss (HP:0000365); no ocular changes; GBM pathology Basket-weave changes; 14y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal recessive (ASAR)" "Alport syndrome" "" "0000126593" "01644" "00153916" "00687" "Familial, autosomal recessive" "9y" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology Basket-weave changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal recessive (ASAR)" "Alport syndrome" "" "0000126594" "01644" "00153917" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome;thin basement membrane nephropathy" "" "0000126595" "01644" "00153918" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126596" "01361" "00153919" "00687" "Unknown" "40y" "no hearing loss (-HP:0000365); no ocular changes; no hematuria (-HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126597" "01644" "00153920" "00687" "Unknown" "15y" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126598" "01644" "00153921" "00687" "Familial, autosomal recessive" "31y" "hearing loss (HP:0000365); ocular changes; 20y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal recessive (ASAR)" "Alport syndrome" "" "0000126599" "01644" "00153922" "00687" "Unknown" "5y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126601" "01644" "00153924" "00687" "Familial, autosomal recessive" "28y" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology Basket-weave changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal recessive (ASAR)" "Alport syndrome" "" "0000126602" "01644" "00153925" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126603" "01644" "00153926" "00687" "Familial, autosomal recessive" "8y" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology Basket-weave changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal recessive (ASAR)" "Alport syndrome" "" "0000126604" "01644" "00153927" "00687" "Unknown" "24y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126605" "01644" "00153928" "00687" "Unknown" "48y" "hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126606" "01361" "00153929" "00687" "Unknown" "32y" "" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126607" "01644" "00153930" "00687" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126608" "01644" "00153931" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126609" "01644" "00153932" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126610" "01644" "00153933" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126611" "01644" "00153934" "00687" "Unknown" "30y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126612" "05396" "00153935" "00687" "Unknown" "43y" "" "" "" "" "" "" "" "" "" "" "glomerulosclerosis, segmental, focal (FSGS)" "" "0000126613" "01644" "00153936" "00687" "Unknown" "2y" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126614" "01644" "00153937" "00687" "Unknown" "37y" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126615" "01644" "00153938" "00687" "Unknown" "6y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126616" "01644" "00153939" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome;thin basement membrane nephropathy" "" "0000126617" "01644" "00153940" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126618" "01644" "00153941" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126619" "01361" "00153942" "00687" "Unknown" "8y" "no hearing loss (-HP:0000365); no ocular changes; no hematuria (-HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126620" "01644" "00153943" "00687" "Unknown" "18y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126621" "01169" "00153944" "00687" "Familial, autosomal dominant" "32y" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology Irregularly thickened and splitting; hematuria (HP:0000790); no proteinuria (-HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal dominant (ASAD)" "Alport syndrome" "" "0000126622" "01169" "00153945" "00687" "Familial, autosomal dominant" "32y" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology Irregularly thickened and splitting; hematuria (HP:0000790); no proteinuria (-HP:0000093)" "31y" "" "" "" "" "" "" "" "syndrome, Alport, autosomal dominant (ASAD)" "Alport syndrome" "" "0000126623" "01644" "00153946" "00687" "Familial, autosomal recessive" "37y" "GBM pathology thinning, thickening, lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal recessive (ASAR)" "Alport syndrome" "" "0000126624" "01644" "00153947" "00687" "Familial, autosomal recessive" "17y" "no hearing loss (-HP:0000365); no ocular changes; GBM pathology Basket-weave changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal recessive (ASAR)" "Alport syndrome" "" "0000126625" "01644" "00153948" "00687" "Unknown" "36y" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126626" "01644" "00153949" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126627" "01644" "00153950" "00687" "Unknown" "8y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126628" "01361" "00153951" "00687" "Unknown" "" "GBM pathology thinning, splitting, lamellation; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126629" "05132" "00153952" "00687" "Unknown" "37y" "no hearing loss (-HP:0000365); no ocular changes; 34y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126630" "01644" "00153953" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126631" "01644" "00153954" "00687" "Unknown" "41y" "hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); no proteinuria (-HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126632" "01644" "00153955" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126634" "01644" "00153957" "00687" "Unknown" "17y" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126635" "01644" "00153958" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126636" "01644" "00153959" "00687" "Unknown" "39y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126637" "01644" "00153960" "00687" "Unknown" "40y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126638" "01644" "00153961" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126639" "01644" "00153962" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126640" "01169" "00153963" "00687" "Familial, autosomal dominant" "21y" "hearing loss (HP:0000365); GBM pathology Irregular thickening, thinning and splitting; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal dominant (ASAD)" "Alport syndrome" "" "0000126641" "01361" "00153964" "00687" "Unknown" "54y" "GBM pathology thinning; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126642" "01644" "00153965" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126643" "01361" "00153966" "00687" "Unknown" "41y" "no hearing loss (-HP:0000365); no ocular changes; proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126644" "01169" "00153967" "00687" "Familial, autosomal dominant" "49y" "hearing loss (HP:0000365); ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "syndrome, Alport, autosomal dominant (ASAD)" "Alport syndrome" "" "0000126645" "01644" "00153968" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126646" "01644" "00153969" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126647" "01644" "00153970" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126648" "01644" "00153971" "00687" "Unknown" "23y" "hearing loss (HP:0000365); 13y-renal failure (HP:0000083)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126649" "01644" "00153972" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126650" "01644" "00153973" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126651" "01644" "00153974" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126652" "01644" "00153975" "00687" "Unknown" "55y" "hearing loss (HP:0000365); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126653" "01644" "00153976" "00687" "Unknown" "20y" "no hearing loss (-HP:0000365); hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126655" "01644" "00153978" "00687" "Unknown" "17y" "no hearing loss (-HP:0000365); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126656" "01644" "00153979" "00687" "Unknown" "4y" "no hearing loss (-HP:0000365); no ocular changes; no hematuria (-HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126657" "01361" "00153980" "00687" "Unknown" "67y" "GBM pathology thinning; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126658" "01644" "00153981" "00687" "Unknown" "62y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126659" "01644" "00153982" "00687" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126660" "01644" "00153983" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126661" "05132" "00153984" "00687" "Unknown" "49y" "no hearing loss (-HP:0000365); no ocular changes; 49y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "" "0000126662" "01361" "00153985" "00687" "Unknown" "13y" "no hearing loss (-HP:0000365); no ocular changes; no hematuria (-HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126663" "01361" "00153986" "00687" "Unknown" "14y" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "thin basement membrane nephropathy" "" "0000126664" "01644" "00153987" "00687" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "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" "" "0000126790" "01644" "00154113" "00687" "Unknown" "" "hearing loss (HP:0000365); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126803" "01644" "00154126" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "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" "" "0000126908" "01644" "00154231" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126969" "01644" "00154292" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000126987" "01644" "00154310" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127053" "01644" "00154376" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000127064" "01169" "00153845" "00006" "Familial, autosomal dominant" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000186694" "05132" "00247315" "03364" "Familial, autosomal recessive" "02y02m" "microhematuria (HP:0002907), proteinuria (HP:0000093)" "02y02m" "02y03m" "02y02m" "" "" "" "" "" "ASAR" "Alport syndrome" "" "0000224064" "01361" "00296662" "02367" "Familial, autosomal dominant" "33y" "" "05y" "10y" "hematuria" "" "" "" "" "" "33y" "10y" "" "0000224082" "01361" "00296657" "02367" "Familial, autosomal dominant" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "0000270445" "01361" "00375235" "04087" "Unknown" "" "HP:0002907" "04y" "05y" "" "" "" "" "" "" "TBMN" "" "" "0000270446" "01361" "00375236" "04087" "Unknown" "" "HP:0012577" "" "" "" "" "" "" "" "" "TBMN" "" "" "0000270447" "01361" "00375237" "04087" "Unknown" "" "HP:0002907" "" "" "" "" "" "" "" "" "TBMN" "" "" "0000270448" "01361" "00375238" "04087" "Unknown" "" "HP:0000790" "" "" "" "" "" "" "" "" "TBMN" "" "" "0000271662" "05132" "00376455" "04087" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000274621" "01644" "00380768" "00000" "Familial" "" "Nephrotic syndrome; hematuria; progressive hearing loss (Multiple system)" "" "" "" "" "" "" "" "" "Alport syndrome" "" "" "0000288251" "04214" "00395051" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "" "0000288252" "04214" "00395052" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "" "0000294284" "05132" "00401265" "00006" "Familial, autosomal recessive" "" "see paper; ..., hematuria, proteinuria, serum creatinine 91 umol/L" "25y" "" "" "" "" "" "" "" "ATS2" "Alport syndrome" "" "0000295743" "01169" "00402996" "04087" "Familial, autosomal dominant" "" "HP:0000006" "" "" "" "" "" "" "" "" "" "" "" "0000295744" "01169" "00402997" "04087" "Familial, autosomal dominant" "" "HP:0000006" "" "" "" "" "" "" "" "" "" "" "" "0000295745" "01169" "00402998" "04087" "Familial, autosomal dominant" "" "HP:0000006" "" "" "" "" "" "" "" "" "" "" "" "0000295746" "01169" "00402999" "04087" "Familial, autosomal dominant" "" "HP:0000006" "" "" "" "" "" "" "" "" "" "" "" "0000295759" "01169" "00403012" "04087" "Familial, autosomal dominant" "" "HP:0000006" "" "" "" "" "" "" "" "" "" "" "" "0000302680" "00198" "00410577" "00006" "Unknown" "" "hematuria, family history" "" "" "" "" "" "" "" "" "BFH" "" "" "0000303400" "05132" "00411360" "01164" "Familial, autosomal dominant" "" "Microscopic hematuria" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000306183" "00198" "00414348" "00000" "Unknown" "9y" "Autosomal Dominant Alport Syndrome;Tuberous Sclerosis 1" "" "" "" "" "" "" "" "" "" "" "" "0000306211" "00198" "00414376" "00000" "Familial, autosomal dominant" "11y" "" "" "" "" "" "" "" "" "" "Alport Syndrome" "" "" "0000306224" "00198" "00414389" "00000" "Familial, autosomal recessive" "28y" "" "" "" "" "" "" "" "" "" "Alport Syndrome" "" "" "0000306225" "00198" "00414390" "00000" "Unknown" "1y" "Focal Segmental Glomerulosclerosis 5; Alport Syndrome; Hemolytic Uremic syndrome susceptibility to 1" "" "" "" "" "" "" "" "" "" "" "" "0000306268" "00198" "00414433" "00000" "Unknown" "12y" "Finnish type Amyloidosis;Alport Syndrome;Vesicoureteral Reflux 8" "" "" "" "" "" "" "" "" "" "" "" "0000306303" "00198" "00414468" "00000" "Unknown" "2y" "Alport Syndrome; Benign Familial Hematuria" "" "" "" "" "" "" "" "" "" "" "" "0000306304" "00198" "00414469" "00000" "Unknown" "10y" "Alport Syndrome; Benign Familial Hematuria" "" "" "" "" "" "" "" "" "" "" "" "0000306307" "00198" "00414472" "00000" "Unknown" "9y" "Alport Syndrome; Benign Familial Hematuria" "" "" "" "" "" "" "" "" "" "" "" "0000323532" "01361" "00432954" "01741" "Unknown" "" "microhematuria, visual and hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000337267" "05132" "00433428" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "ATS2" "Alport syndrome" "" "0000337268" "05132" "00433429" "00006" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000337269" "05132" "00433430" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "ATS2" "Alport syndrome" "" "0000337270" "05132" "00433431" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "ATS3A" "Alport syndrome" "" "0000337271" "05132" "00433432" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "ATS3A" "Alport syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 718 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000091970" "00091964" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000091971" "00091965" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000091972" "00091966" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "HD;SSCA;SEQ" "DNA" "" "" "0000091973" "00091926" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091974" "00091848" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091975" "00091930" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC;SEQ" "DNA" "" "" "0000091976" "00091967" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "HD;SSCA;SEQ" "DNA" "" "" "0000091977" "00091968" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC; SEQ" "DNA" "" "" "0000091978" "00091948" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091979" "00091849" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091980" "00091850" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091981" "00091851" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091982" "00091852" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091983" "00091853" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091984" "00091854" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091985" "00091855" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091986" "00091856" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091987" "00091857" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091988" "00091858" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091989" "00091969" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000091990" "00091924" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000091991" "00091859" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091992" "00091970" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000091993" "00091860" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091994" "00091921" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC; SEQ" "DNA" "" "" "0000091995" "00091939" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091996" "00091971" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000091997" "00091972" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "HD;SSCA;SEQ" "DNA" "" "" "0000091998" "00091861" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000091999" "00091949" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092000" "00091973" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092001" "00091974" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092002" "00091929" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;DHPLC" "DNA" "" "" "0000092003" "00091915" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC;SEQ" "DNA" "" "" "0000092004" "00091975" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC; SEQ" "DNA" "" "" "0000092005" "00091950" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092006" "00091862" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092007" "00091963" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092008" "00091976" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "HD;SSCA;SEQ" "DNA" "" "" "0000092009" "00091977" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092010" "00091863" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092011" "00091940" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC; SEQ" "DNA" "" "" "0000092012" "00091933" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC; SEQ" "DNA" "" "" "0000092013" "00091978" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092014" "00091979" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092015" "00091980" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092016" "00091981" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092017" "00091982" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092018" "00091983" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC; SEQ" "DNA" "" "" "0000092019" "00091984" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092020" "00091985" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "HD;SSCA;SEQ" "DNA" "" "" "0000092021" "00091864" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092022" "00091986" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092023" "00091987" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092024" "00091902" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "Southern;SEQ" "DNA;RNA" "" "" "0000092025" "00091903" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "Southern;SEQ" "DNA;RNA" "" "" "0000092026" "00091907" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "Southern;SEQ" "DNA;RNA" "" "" "0000092027" "00091919" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092028" "00091988" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "HD;SSCA;SEQ" "DNA" "" "" "0000092029" "00091917" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC; SEQ" "DNA" "" "" "0000092030" "00091829" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "Southern;SEQ" "DNA;RNA" "" "" "0000092031" "00091920" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC; SEQ" "DNA" "" "" "0000092032" "00091865" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092033" "00091866" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092034" "00091989" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092035" "00091916" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC;SEQ" "DNA" "" "" "0000092036" "00091905" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092037" "00091842" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC;SEQ" "DNA" "" "" "0000092038" "00091990" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092039" "00091932" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC; SEQ" "DNA" "" "" "0000092040" "00091867" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092041" "00091991" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC; SEQ" "DNA" "" "" "0000092042" "00091992" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092043" "00091993" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092044" "00091994" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "HD;SSCA;SEQ" "DNA" "" "" "0000092045" "00091868" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092046" "00091869" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092047" "00091870" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "HD;SSCA;SEQ" "DNA" "" "" "0000092048" "00091834" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2012-11-02 01:47:23" "SEQ;SSCA" "DNA" "" "" "0000092049" "00091946" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "EMC;SSCA" "DNA" "" "" "0000092050" "00091936" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;DHPLC" "DNA" "" "" "0000092051" "00091843" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "HD;SSCA;SEQ" "DNA" "" "" "0000092052" "00091904" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092053" "00091995" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;DHPLC" "DNA" "" "" "0000092054" "00091951" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092055" "00091996" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092056" "00091897" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092057" "00091945" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2012-11-02 02:10:41" "SEQ;SSCA" "DNA" "" "" "0000092058" "00091997" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092059" "00091906" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092060" "00091938" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC;SEQ" "DNA" "" "" "0000092061" "00091927" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092062" "00091871" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092063" "00091872" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092064" "00091947" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "EMC;SSCA" "DNA" "" "" "0000092065" "00091923" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092066" "00091944" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092067" "00091952" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092068" "00091873" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092069" "00091874" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092070" "00091953" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092071" "00091998" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092072" "00091875" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092073" "00091954" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092074" "00091999" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092075" "00092000" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092076" "00092001" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092077" "00092002" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092078" "00092003" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "DHPLC; SEQ" "DNA" "" "" "0000092079" "00092004" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "HD;SSCA;SEQ" "DNA" "" "" "0000092080" "00092005" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092081" "00091898" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SSCA;SEQ" "DNA" "" "" "0000092082" "00091876" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092083" "00091877" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092084" "00091878" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092085" "00091879" "1" "00687" "00687" "2011-08-10 05:54:23" "00687" "2011-08-10 05:56:55" "SEQ" "DNA" "" "" "0000092086" "00091880" "1" "00687" 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"0000092345" "00092204" "1" "01548" "01548" "2015-06-19 21:34:48" "" "" "SEQ" "DNA" "" "" "0000104499" "00104028" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000153577" "00152715" "1" "02367" "02367" "2018-02-07 20:08:48" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000153579" "00152717" "1" "02367" "02367" "2018-02-07 20:35:15" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000153591" "00152728" "1" "02367" "02367" "2018-02-09 13:51:01" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000153803" "00152940" "1" "02367" "02367" "2018-02-09 15:02:51" "" "" "MLPA;SEQ-NG-I" "DNA" "blood" "" "0000154183" "00153320" "1" "02367" "02367" "2018-02-14 19:53:05" "" "" "MLPA;SEQ-NG-I" "DNA" "blood" "gene panel (COL4A3, COL4A4, COL4A5, CFHR5, MYH9)" "0000154185" "00153321" "1" "02367" "02367" "2018-02-14 20:30:52" "" "" "MLPA;SEQ-NG-I" "DNA" "blood" "gene panel (COL4A3, COL4A4, COL4A5, CFHR5, MYH9)" "0000154187" "00153323" "1" "02367" "02367" "2018-02-14 21:02:28" "" "" "MLPA;SEQ-NG-I" "DNA" "blood" 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"SEQ" "DNA" "blood" "" "0000154760" "00153899" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154761" "00153900" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000154762" "00153901" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000154763" "00153902" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "PCR;SEQ" "DNA" "blood" "" "0000154764" "00153903" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154765" "00153904" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154766" "00153905" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154767" "00153906" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154768" "00153907" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154769" "00153908" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154770" "00153909" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154772" "00153911" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000154774" "00153913" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000154775" "00153914" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154776" "00153915" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "PCR;SEQ" "DNA" "blood" "" "0000154777" "00153916" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "PCR;SEQ" "DNA" "blood" "" "0000154778" "00153917" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000154779" "00153918" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154780" "00153919" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154781" "00153920" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154782" "00153921" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "PCR;SEQ" "DNA" "blood" "" "0000154783" "00153922" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154785" "00153924" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "PCR;SEQ" "DNA" "blood" "" "0000154786" "00153925" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154787" "00153926" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "PCR;SEQ" "DNA" "blood" "" "0000154788" "00153927" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154789" "00153928" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154790" "00153929" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154791" "00153930" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154792" "00153931" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000154793" "00153932" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154794" "00153933" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154795" "00153934" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154796" "00153935" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "" "" "0000154797" "00153936" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154798" "00153937" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000154799" "00153938" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154800" "00153939" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000154801" "00153940" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000154802" "00153941" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000154803" "00153942" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154804" "00153943" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154805" "00153944" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "WES" "0000154806" "00153945" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000154807" "00153946" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154808" "00153947" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "PCR;SEQ" "DNA" "blood" "" "0000154809" "00153948" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000154810" "00153949" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000154811" "00153950" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154812" "00153951" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154813" "00153952" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "segregation analysis" "0000154814" "00153953" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154815" "00153954" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154816" "00153955" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000154818" "00153957" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000154819" "00153958" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154820" "00153959" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154821" "00153960" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154822" "00153961" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000154823" "00153962" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154824" "00153963" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154825" "00153964" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154826" "00153965" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000154827" "00153966" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154828" "00153967" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "CSGE;SEQ" "DNA" "blood" "" "0000154829" "00153968" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154830" "00153969" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154831" "00153970" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000154832" "00153971" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154833" "00153972" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154834" "00153973" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154835" "00153974" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154836" "00153975" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000154837" "00153976" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000154839" "00153978" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000154840" "00153979" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154841" "00153980" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154842" "00153981" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154843" "00153982" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154844" "00153983" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154845" "00153984" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "segregation analysis" "0000154846" "00153985" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154847" "00153986" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "blood" "" "0000154848" "00153987" "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" "0000154974" "00154113" "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" "" "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" "" "0000155092" "00154231" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000155153" "00154292" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155171" "00154310" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000155237" "00154376" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000207843" "00206809" "1" "03107" "03107" "2018-11-14 14:29:21" "" "" "SEQ" "DNA" "" "" "0000248423" "00247315" "1" "03364" "03364" "2019-07-17 13:21:52" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "gene panel" "0000293788" "00292620" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293789" "00292621" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297767" "00296657" "1" "02367" "02367" "2020-04-09 12:05:44" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297771" "00296661" "1" "02367" "02367" "2020-04-10 07:36:19" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297772" "00296662" "1" "02367" "02367" "2020-04-10 08:03:33" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000309842" "00308697" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000328597" "00327385" "1" "03611" "03611" "2021-01-20 09:16:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000376429" "00375235" "1" "04087" "04087" "2021-06-01 13:04:37" "" "" "SEQ-NG" "DNA" "Blood" "" "0000376430" "00375236" "1" "04087" "04087" "2021-06-01 13:36:45" "" "" "SEQ-NG" "DNA" "Blood" "" "0000376431" "00375237" "1" "04087" "04087" "2021-06-01 13:46:53" "" "" "SEQ-NG" "DNA" "Blood" "" "0000376432" "00375238" "1" "04087" "04087" "2021-06-01 14:00:37" "" "" "SEQ-NG" "DNA" "Blood" "" "0000377660" "00376455" "1" "04087" "04087" "2021-06-23 15:09:28" "" "" "SEQ-NG" "DNA" "Blood" "" "0000381982" "00380768" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000396297" "00395051" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396298" "00395052" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000402509" "00401265" "1" "00006" "00006" "2022-01-30 13:46:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000404237" "00402996" "1" "04087" "04087" "2022-02-15 13:57:34" "" "" "?" "DNA" "" "" "0000404238" "00402997" "1" "04087" "04087" "2022-02-15 14:09:25" "" "" "?" "DNA" "" "" "0000404239" "00402998" "1" "04087" "04087" "2022-02-15 14:17:47" "" "" "?" "DNA" "" "" "0000404240" "00402999" "1" "04087" "04087" "2022-02-15 14:26:32" "" "" "?" "DNA" "" "" "0000404253" "00403012" "1" "04087" "04087" "2022-02-15 14:36:25" "" "" "?" "DNA" "" "" "0000411842" "00410577" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412629" "00411360" "1" "01164" "01164" "2022-06-13 07:17:17" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000415628" "00414348" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415656" "00414376" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415669" "00414389" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415670" "00414390" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415713" "00414433" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415748" "00414468" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415749" "00414469" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415752" "00414472" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" 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"0000154546" "COL4A4" "0000154576" "COL4A3" "0000154588" "COL4A3" "0000154598" "COL4A3" "0000154602" "COL4A3" "0000154624" "COL4A3" "0000154647" "COL4A3" "0000154677" "COL4A3" "0000154678" "COL4A3" "0000154698" "COL4A3" "0000154705" "COL4A3" "0000154706" "COL4A4" "0000154708" "COL4A4" "0000154709" "COL4A4" "0000154710" "COL4A4" "0000154711" "COL4A4" "0000154712" "COL4A4" "0000154713" "COL4A4" "0000154714" "COL4A4" "0000154715" "COL4A4" "0000154716" "COL4A4" "0000154717" "COL4A4" "0000154718" "COL4A4" "0000154719" "COL4A4" "0000154720" "COL4A4" "0000154721" "COL4A4" "0000154722" "COL4A4" "0000154723" "COL4A4" "0000154724" "COL4A4" "0000154725" "COL4A4" "0000154726" "COL4A4" "0000154727" "COL4A4" "0000154728" "COL4A4" "0000154729" "COL4A4" "0000154730" "COL4A4" "0000154731" "COL4A4" "0000154733" "COL4A4" "0000154734" "COL4A4" "0000154735" "COL4A4" "0000154736" "COL4A4" "0000154737" "COL4A4" "0000154738" "COL4A4" "0000154739" "COL4A4" "0000154740" "COL4A4" "0000154741" "COL4A4" "0000154742" "COL4A4" "0000154743" "COL4A4" "0000154744" "COL4A4" "0000154745" "COL4A4" "0000154746" "COL4A4" "0000154747" "COL4A4" "0000154748" "COL4A4" "0000154749" "COL4A4" "0000154750" "COL4A4" "0000154751" "COL4A4" "0000154752" "COL4A4" "0000154754" "COL4A4" "0000154755" "COL4A4" "0000154757" "COL4A4" "0000154758" "COL4A4" "0000154759" "COL4A4" "0000154760" "COL4A4" "0000154761" "COL4A4" "0000154762" "COL4A4" "0000154763" "COL4A4" "0000154764" "COL4A4" "0000154765" "COL4A4" "0000154766" "COL4A4" "0000154767" "COL4A4" "0000154768" "COL4A4" "0000154769" "COL4A4" "0000154770" "COL4A4" "0000154772" "COL4A4" "0000154774" "COL4A4" "0000154775" "COL4A4" "0000154776" "COL4A4" "0000154777" "COL4A4" "0000154778" "COL4A4" "0000154779" "COL4A4" "0000154780" "COL4A4" "0000154781" "COL4A4" "0000154782" "COL4A4" "0000154783" "COL4A4" "0000154785" "COL4A4" "0000154786" "COL4A4" "0000154787" "COL4A4" "0000154788" "COL4A4" "0000154789" "COL4A4" "0000154790" "COL4A4" "0000154791" "COL4A4" "0000154792" "COL4A4" "0000154793" "COL4A4" "0000154794" "COL4A4" "0000154795" "COL4A4" "0000154796" "COL4A4" "0000154797" "COL4A4" "0000154798" "COL4A4" "0000154799" "COL4A4" "0000154800" "COL4A4" "0000154801" "COL4A4" "0000154802" "COL4A4" "0000154803" "COL4A4" "0000154804" "COL4A4" "0000154805" "COL4A4" "0000154806" "COL4A4" "0000154807" "COL4A4" "0000154808" "COL4A4" "0000154809" "COL4A4" "0000154810" "COL4A4" "0000154811" "COL4A4" "0000154812" "COL4A4" "0000154813" "COL4A4" "0000154814" "COL4A4" "0000154815" "COL4A4" "0000154816" "COL4A4" "0000154818" "COL4A4" "0000154819" "COL4A4" "0000154820" "COL4A4" "0000154821" "COL4A4" "0000154822" "COL4A4" "0000154823" "COL4A4" "0000154824" "COL4A4" "0000154825" "COL4A4" "0000154826" "COL4A4" "0000154827" "COL4A4" "0000154828" "COL4A4" "0000154829" "COL4A4" "0000154830" "COL4A4" "0000154831" "COL4A4" "0000154832" "COL4A4" "0000154833" "COL4A4" "0000154834" "COL4A4" "0000154835" "COL4A4" "0000154836" "COL4A4" "0000154837" "COL4A4" "0000154839" "COL4A4" "0000154840" "COL4A4" "0000154841" "COL4A4" "0000154842" "COL4A4" "0000154843" "COL4A4" "0000154844" "COL4A4" "0000154845" "COL4A4" "0000154846" "COL4A4" "0000154847" "COL4A4" "0000154848" "COL4A4" "0000154895" "COL4A5" "0000154974" "COL4A5" "0000154987" "COL4A5" "0000155035" "COL4A5" "0000155036" "COL4A5" "0000155092" "COL4A5" "0000155153" "COL4A5" "0000155171" "COL4A5" "0000155237" "COL4A5" "0000207843" "COL4A3" "0000207843" "COL4A4" "0000248423" "COL4A3" "0000248423" "COL4A4" "0000248423" "COL4A5" "0000297767" "CFHR5" "0000297767" "COL4A3" "0000297767" "COL4A4" "0000297767" "COL4A5" "0000297767" "COL4A6" "0000297767" "MYH9" "0000297771" "CFHR5" "0000297771" "COL4A3" "0000297771" "COL4A4" "0000297771" "COL4A5" "0000297771" "COL4A6" "0000297771" "MYH9" "0000297772" "CFHR5" "0000297772" "COL4A3" "0000297772" "COL4A4" "0000297772" "COL4A5" "0000297772" "COL4A6" "0000297772" "MYH9" "0000309842" "COL4A4" "0000396297" "COL4A4" "0000396298" "COL4A4" "0000402509" "COL4A4" "0000412629" "COL4A4" "0000415628" "COL4A4" "0000415656" "COL4A4" "0000415669" "COL4A4" "0000415670" "INF2" "0000415713" "GSN" "0000415748" "COL4A4" "0000415749" "COL4A4" "0000415752" "COL4A3" "0000434398" "COL4A3" "0000434398" "COL4A4" "0000434398" "COL4A5" "0000434398" "MYH9" "0000434852" "COL4A4" "0000434853" "COL4A4" "0000434854" "COL4A4" "0000434855" "COL4A4" "0000434856" "COL4A4" "0000434857" "COL4A4" "0000434858" "COL4A4" "0000434859" "COL4A4" "0000434860" "COL4A4" "0000434861" "COL4A4" "0000434862" "COL4A4" "0000434863" "COL4A4" "0000434864" "COL4A4" "0000434865" "COL4A4" "0000434866" "COL4A4" "0000434867" "COL4A4" "0000434868" "COL4A4" "0000434869" "COL4A4" "0000434870" "COL4A4" "0000434871" "COL4A4" "0000434872" "COL4A4" "0000434873" "COL4A4" "0000434874" "COL4A4" "0000434875" "COL4A4" "0000434876" "COL4A4" "0000434877" "COL4A4" "0000434878" "COL4A4" "0000434879" "COL4A4" "0000434880" "COL4A4" "0000434882" "COL4A4" "0000434883" "COL4A4" "0000434884" "COL4A4" "0000434885" "COL4A4" "0000434886" "COL4A4" "0000436600" "COL4A4" ## 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 = 1219 "{{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}}" "0000150200" "0" "13" "2" "228012201" "228012201" "subst" "0.0244022" "00687" "COL4A4_000001" "g.228012201G>A" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227147485G>A" "" "benign" "" "0000150201" "0" "13" "2" "228012183" "228012183" "subst" "0.0236704" "00687" "COL4A4_000002" "g.228012183A>G" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227147467A>G" "" "benign" "" "0000150202" "0" "13" "2" "228012183" "228012183" "subst" "0.0236704" "00687" "COL4A4_000002" "g.228012183A>G" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227147467A>G" "" "benign" "" "0000150203" "0" "70" "2" "228012158" "228012168" "del" "0" "00687" "COL4A4_000003" "g.228012158_228012168del" "" "{PMID:Badenas 2002:11961012}" "" "32delGCTCCTTCAGA" "Heterozygous. Missense." "Germline" "" "" "0" "" "" "g.227147442_227147452del" "" "likely pathogenic" "" "0000150204" "0" "13" "2" "228009244" "228009244" "subst" "0.00195184" "00687" "COL4A4_000004" "g.228009244T>C" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227144528T>C" "" "benign" "" "0000150205" "0" "97" "2" "227920787" "227920787" "subst" "0" "00687" "COL4A4_000064" "g.227920787C>T" "" "(PMID:Longo 2006:16338941}" "" "" "Compound heterozygous" "Germline" "" "" "0" "" "" "g.227056071C>T" "" "pathogenic" "" "0000150206" "0" "13" "2" "227985862" "227985862" "subst" "0.000771223" "00687" "COL4A4_000006" "g.227985862A>G" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227121146A>G" "" "benign" "" "0000150207" "0" "13" "2" "227985644" "227985644" "subst" "0" "00687" "COL4A4_000007" "g.227985644G>A" "" "{PMID:Marcocci 2009:19129241}" "" "" "" "Germline" "" "" "0" "" "" "g.227120928G>A" "" "benign" "" "0000150208" "0" "70" "2" "227984636" "227984636" "subst" "0" "00687" "COL4A4_000008" "g.227984636C>T" "" "{PMID:Buzza 2003:12631110}" "" "" "heterozygous; missense" "Germline" "" "" "0" "" "" "g.227119920C>T" "" "likely pathogenic" "" "0000150209" "0" "70" "2" "227983355" "227983355" "subst" "0" "00687" "COL4A4_000009" "g.227983355T>C" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227118639T>C" "" "likely pathogenic" "" "0000150210" "0" "13" "2" "227979533" "227979533" "subst" "0" "00687" "COL4A4_000010" "g.227979533A>C" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227114817A>C" "" "benign" "" "0000150211" "0" "13" "2" "227976512" "227976512" "subst" "0" "00687" "COL4A4_000011" "g.227976512A>G" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227111796A>G" "" "benign" "" "0000150212" "0" "13" "2" "227974113" "227974113" "subst" "0" "00687" "COL4A4_000012" "g.227974113A>G" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227109397A>G" "" "benign" "" "0000150213" "0" "13" "2" "227976232" "227976232" "subst" "0" "00687" "COL4A4_000013" "g.227976232C>A" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227111516C>A" "" "benign" "" "0000150214" "0" "97" "2" "227974002" "227974002" "subst" "4.06355E-6" "00687" "COL4A4_000014" "g.227974002C>T" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227109286C>T" "" "pathogenic" "" "0000150215" "0" "13" "2" "227973873" "227973873" "subst" "0" "00687" "COL4A4_000015" "g.227973873T>C" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227109157T>C" "" "benign" "" "0000150216" "0" "13" "2" "227973623" "227973623" "subst" "0.604412" "00687" "COL4A4_000016" "g.227973623A>G" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227108907A>G" "" "benign" "" "0000150217" "0" "13" "2" "227973410" "227973410" "subst" "0" "00687" "COL4A4_000017" "g.227973410C>A" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227108694C>A" "" "benign" "" "0000150218" "0" "13" "2" "227973193" "227973193" "subst" "0" "00687" "COL4A4_000018" "g.227973193G>A" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227108477G>A" "" "benign" "" "0000150219" "0" "90" "2" "227968699" "227968699" "dup" "0" "00687" "COL4A4_000019" "g.227968699dup" "" "{PMID:Boye 1998:09792860}" "" "805/809insA" "Compound heterozygous" "Germline" "" "" "0" "" "" "g.227103983dup" "" "pathogenic" "" "0000150220" "0" "50" "2" "227967842" "227967843" "ins" "0" "00687" "COL4A4_000020" "g.227967842_227967843insA" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227103126_227103127insA" "" "VUS" "" "0000150221" "0" "13" "2" "227967581" "227967603" "del" "0" "00687" "COL4A4_000021" "g.227967581_227967603del" "" "{PMID:Baek 2009:19675380}" "" "871-38del23" "" "Germline" "" "" "0" "" "" "g.227102865_227102887del" "" "benign" "" "0000150222" "3" "90" "2" "227966598" "227967522" "del" "0" "00687" "COL4A4_000022" "g.227966598_227967522del" "" "{PMID:Boye 1998:09792860}" "" "914del46bp" "Homozygous" "Germline" "" "" "0" "" "" "g.227101882_227102806del" "" "pathogenic" "" "0000150223" "0" "13" "2" "227967330" "227967330" "subst" "0" "00687" "COL4A4_000023" "g.227967330C>G" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227102614C>G" "" "benign" "" "0000150224" "0" "97" "2" "227966616" "227966616" "subst" "0" "00687" "COL4A4_000024" "g.227966616C>A" "" "{PMID:Marcocci 2009:19129241}" "" "" "heterozygous; missense" "Germline" "" "" "0" "" "" "g.227101900C>A" "" "pathogenic" "" "0000150225" "0" "97" "2" "227966581" "227966581" "subst" "0" "00687" "COL4A4_000025" "g.227966581C>A" "" "{PMID:Ciccarese 2001:11572889}" "" "" "" "Germline" "" "" "0" "" "" "g.227101865C>A" "" "pathogenic" "" "0000150226" "0" "13" "2" "227966149" "227966149" "subst" "0" "00687" "COL4A4_000027" "g.227966149T>C" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227101433T>C" "" "benign" "" "0000150227" "0" "13" "2" "227966149" "227966149" "subst" "0" "00687" "COL4A4_000027" "g.227966149T>C" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227101433T>C" "" "benign" "" "0000150228" "0" "13" "2" "227964554" "227964554" "subst" "0" "00687" "COL4A4_000028" "g.227964554T>C" "" "{PMID:Baek 2009:19675380}" "" "" "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.227099838T>C" "" "benign" "" "0000150229" "0" "13" "2" "227964309" "227964309" "subst" "0" "00687" "COL4A4_000029" "g.227964309A>T" "" "{PMID:Buzza 2003:12631110}" "" "" "" "Germline" "" "" "0" "" "" "g.227099593A>T" "" "benign" "" "0000150230" "0" "70" "2" "227958874" "227958891" "del" "0" "00687" "COL4A4_000030" "g.227958874_227958891del" "" "{PMID:Boye 1998:09792860}" "" "1319delCACCTGGCTTGCCTGGAG" "Compound heterozygous" "Germline" "" "" "0" "" "" "g.227094158_227094175del" "" "likely pathogenic" "" "0000150231" "0" "97" "2" "227954638" "227954638" "subst" "0" "00687" "COL4A4_000032" "g.227954638C>A" "" "{PMID:Nagel 2005:15954103}" "" "" "" "Germline" "" "" "0" "" "" "g.227089922C>A" "" "pathogenic" "" "0000150232" "0" "97" "2" "227954602" "227954602" "subst" "8.53249E-5" "00687" "COL4A4_000101" "g.227954602C>T" "" "{PMID:Frasca 2005:15618242}" "" "" "Heterozygous. Missense" "Germline" "" "" "0" "" "" "g.227089886C>T" "" "pathogenic" "" "0000150233" "0" "97" "2" "227954610" "227954610" "subst" "0" "00687" "COL4A4_000033" "g.227954610C>T" "" "(PMID:Longo 2006:16338941}" "" "" "" "Germline" "" "" "0" "" "" "g.227089894C>T" "" "pathogenic" "" "0000150234" "0" "13" "2" "227954599" "227954599" "subst" "0.540535" "00687" "COL4A4_000034" "g.227954599G>A" "" "{PMID:Marcocci 2009:19129241}" "" "" "" "Germline" "" "" "0" "" "" "g.227089883G>A" "" "benign" "" "0000150235" "0" "13" "2" "227954599" "227954599" "subst" "0.540535" "00687" "COL4A4_000034" "g.227954599G>A" "" "{PMID:Buzza 2003:12631110}" "" "" "" "Germline" "" "" "0" "" "" "g.227089883G>A" "" "benign" "" "0000150236" "0" "13" "2" "227954599" "227954599" "subst" "0.540535" "00687" "COL4A4_000034" "g.227954599G>A" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227089883G>A" "" "benign" "" "0000150237" "0" "13" "2" "227954599" "227954599" "subst" "0.540535" "00687" "COL4A4_000034" "g.227954599G>A" "" "{PMID:Slajpah 2007:17396119}" "" "" "" "Germline" "" "" "0" "" "" "g.227089883G>A" "" "benign" "" "0000150238" "0" "13" "2" "227954599" "227954599" "subst" "0.540535" "00687" "COL4A4_000034" "g.227954599G>A" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227089883G>A" "" "benign" "" "0000150239" "0" "13" "2" "227954599" "227954599" "subst" "0.540535" "00687" "COL4A4_000034" "g.227954599G>A" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227089883G>A" "" "benign" "" "0000150240" "0" "13" "2" "227947053" "227947053" "subst" "0" "00687" "COL4A4_000035" "g.227947053C>G" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227082337C>G" "" "benign" "" "0000150241" "0" "97" "2" "227953413" "227953413" "subst" "0" "00687" "COL4A4_000036" "g.227953413C>A" "" "{PMID:Marcocci 2009:19129241}" "" "" "Heterozygous. Missense." "Germline" "" "" "0" "" "" "g.227088697C>A" "" "pathogenic" "" "0000150242" "0" "97" "2" "227953413" "227953413" "del" "0" "00687" "COL4A4_000037" "g.227953413del" "" "{PMID:Marcocci 2009:19129241}" "" "" "Heterozygous. Deletion" "Germline" "" "" "0" "" "" "g.227088697del" "" "pathogenic" "" "0000150243" "0" "13" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "benign" "" "0000150244" "0" "13" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "{PMID:Ozen 2001:11685592}" "" "" "" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "benign" "" "0000150245" "3" "13" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "{PMID:Boye 1998:09792860}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "benign" "" "0000150246" "3" "13" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "{PMID:Boye 1998:09792860}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "benign" "" "0000150247" "0" "90" "2" "227886851" "227886851" "subst" "8.14425E-6" "00687" "COL4A4_000105" "g.227886851G>A" "" "{PMID:Boye 1998:09792860}" "" "" "Compound heterozygous" "Germline" "" "" "0" "" "" "g.227022135G>A" "" "pathogenic" "" "0000150248" "0" "13" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "{PMID:Marcocci 2009:19129241}" "" "" "" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "benign" "" "0000150249" "0" "13" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "{PMID:Slajpah 2007:17396119}" "" "" "" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "benign" "" "0000150250" "0" "13" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "benign" "" "0000150251" "0" "70" "2" "227945266" "227945266" "subst" "0" "00687" "COL4A4_000039" "g.227945266C>G" "" "{PMID:Badenas 2002:11961012}" "" "" "intronic/ splice site" "Germline" "" "" "0" "" "" "g.227080550C>G" "" "likely pathogenic" "" "0000150252" "0" "53" "2" "227945253" "227945253" "subst" "0" "00687" "COL4A4_000040" "g.227945253T>C" "" "{PMID:Boye 1998:09792860}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.227080537T>C" "" "VUS" "" "0000150253" "3" "90" "2" "227945161" "227945161" "del" "0" "00687" "COL4A4_000041" "g.227945161del" "" "{PMID:Boye 1998:09792860}" "" "c.1801delC" "Homozygous" "Germline" "" "" "0" "" "" "g.227080445del" "" "pathogenic" "" "0000150254" "1" "97" "2" "227942657" "227942674" "del" "0" "00687" "COL4A4_000045" "g.227942657_227942674del" "" "{PMID:Gross 2003:12748344}" "" "1805_1988del184" "NOTE: this deletion may cause the observed but unexplained cDNA deletion" "Germline" "yes" "" "0" "" "" "g.227077941_227077958del" "" "pathogenic" "" "0000150255" "3" "97" "2" "227942657" "227942674" "del" "0" "00687" "COL4A4_000045" "g.227942657_227942674del" "" "{PMID:Gross 2003:12748344}" "" "18bp del" "NOTE: this deletion may cause the observed but unexplained cDNA deletion" "Germline" "yes" "" "0" "" "" "g.227077941_227077958del" "" "pathogenic" "" "0000150256" "1" "97" "2" "227942657" "227942674" "del" "0" "00687" "COL4A4_000045" "g.227942657_227942674del" "" "{PMID:Gross 2003:12748344}" "" "1805_1988del184" "" "Germline" "yes" "" "0" "" "" "g.227077941_227077958del" "" "pathogenic" "" "0000150257" "0" "13" "2" "227942764" "227942764" "subst" "0.00516493" "00687" "COL4A4_000043" "g.227942764A>G" "" "{PMID:Slajpah 2007:17396119}" "" "" "" "Germline" "" "" "0" "" "" "g.227078048A>G" "" "benign" "" "0000150258" "0" "13" "2" "227942764" "227942764" "subst" "0.00516493" "00687" "COL4A4_000043" "g.227942764A>G" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227078048A>G" "" "benign" "" "0000150259" "0" "97" "2" "227942712" "227942712" "del" "0" "00687" "COL4A4_000044" "g.227942712del" "" "{PMID:Marcocci 2009:19129241}" "" "c.1885delC" "Heterozygous. Deletion." "Germline" "" "" "0" "" "" "g.227077996del" "" "pathogenic" "" "0000150260" "0" "97" "2" "227942657" "227942674" "del" "0" "00687" "COL4A4_000045" "g.227942657_227942674del" "" "{PMID:Gross 2003:12748344}" "" "1935_1952delAGTTCCAGGCCACCCAGG" "Heterozygous. Deletion" "Germline" "" "" "0" "" "" "g.227077941_227077958del" "" "pathogenic" "" "0000150261" "0" "97" "2" "227942760" "227942760" "subst" "0" "00687" "COL4A4_000046" "g.227942760C>T" "" "{PMID:Marcocci 2009:19129241}" "" "" "Heterozygous. Missense" "Germline" "" "" "0" "" "" "g.227078044C>T" "" "pathogenic" "" "0000150262" "0" "13" "2" "227927257" "227927257" "subst" "7.71705E-5" "00687" "COL4A4_000048" "g.227927257T>C" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227062541T>C" "" "benign" "" "0000150263" "0" "13" "2" "227924841" "227924841" "dup" "0" "00687" "COL4A4_000361" "g.227924841dup" "" "{PMID:Baek 2009:19675380}" "" "IVS27+25 ins polyA" "" "Germline" "" "rs10653430" "0" "" "" "g.227060125dup" "" "benign" "" "0000150264" "0" "13" "2" "227924365" "227924365" "dup" "0" "00687" "COL4A4_000050" "g.227924365dup" "" "{PMID:Slajpah 2007:17396119}" "" "2165-27insA" "" "Germline" "" "" "0" "" "" "g.227059649dup" "" "benign" "" "0000150265" "3" "97" "2" "227924227" "227924227" "dup" "0" "00687" "COL4A4_000051" "g.227924227dup" "" "(PMID:Longo 2006:16338941}" "" "c.2279_2280insG" "Homozygous; Insertion" "Germline" "" "" "0" "" "" "g.227059511dup" "" "pathogenic" "" "0000150266" "0" "97" "2" "227924184" "227924184" "subst" "7.31012E-5" "00687" "COL4A4_000052" "g.227924184C>G" "" "{PMID:Slajpah 2007:17396119}" "" "" "heterozygous; missense" "Germline" "" "" "0" "" "" "g.227059468C>G" "" "pathogenic" "" "0000150267" "3" "97" "2" "227924130" "227924130" "subst" "4.06141E-6" "00687" "COL4A4_000053" "g.227924130C>T" "" "(PMID:Longo 2006:16338941}" "" "" "Homozygous; missense" "Germline" "" "" "0" "" "" "g.227059414C>T" "" "pathogenic" "" "0000150268" "0" "13" "2" "227924137" "227924137" "subst" "0.00576697" "00687" "COL4A4_000054" "g.227924137T>A" "" "{PMID:Slajpah 2007:17396119}" "" "" "" "Germline" "" "" "0" "" "" "g.227059421T>A" "" "benign" "" "0000150269" "0" "97" "2" "227924119" "227924119" "subst" "0" "00687" "COL4A4_000055" "g.227924119A>G" "" "{PMID:Marcocci 2009:19129241}" "" "" "Heterozygous. intronic/ splice site" "Germline" "" "" "0" "" "" "g.227059403A>G" "" "pathogenic" "" "0000150270" "0" "13" "2" "227922321" "227922321" "subst" "0.0846316" "00687" "COL4A4_000056" "g.227922321A>G" "" "{PMID:Baek 2009:19675380}" "" "" "intronic/splice site" "Germline" "" "" "0" "" "" "g.227057605A>G" "" "benign" "" "0000150271" "0" "13" "2" "227922321" "227922321" "subst" "0.0846316" "00687" "COL4A4_000056" "g.227922321A>G" "" "{PMID:Marcocci 2009:19129241}" "" "" "Intronic/splice site" "Germline" "" "" "0" "" "" "g.227057605A>G" "" "benign" "" "0000150272" "0" "13" "2" "227922321" "227922321" "subst" "0.0846316" "00687" "COL4A4_000056" "g.227922321A>G" "" "{PMID:Slajpah 2007:17396119}" "" "" "intronic/splice site" "Germline" "" "" "0" "" "" "g.227057605A>G" "" "benign" "" "0000150273" "0" "13" "2" "227922321" "227922321" "subst" "0.0846316" "00687" "COL4A4_000056" "g.227922321A>G" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227057605A>G" "" "benign" "" "0000150274" "0" "13" "2" "227922321" "227922321" "subst" "0.0846316" "00687" "COL4A4_000056" "g.227922321A>G" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227057605A>G" "" "benign" "" "0000150275" "0" "13" "2" "227922454" "227922454" "subst" "0" "00687" "COL4A4_000057" "g.227922454G>A" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227057738G>A" "" "benign" "" "0000150276" "0" "13" "2" "227922470" "227922470" "subst" "0" "00687" "COL4A4_000058" "g.227922470T>C" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227057754T>C" "" "benign" "" "0000150277" "0" "97" "2" "227922317" "227922317" "del" "0" "00687" "COL4A4_000059" "g.227922317del" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "Heterozygous. Micro-haematuria. Deletion" "Germline" "" "" "0" "" "" "g.227057601del" "" "pathogenic" "" "0000150278" "0" "97" "2" "227920742" "227920742" "del" "0" "00687" "COL4A4_000061" "g.227920742del" "" "{PMID:Dagher 2002:12325029}" "" "c.2635_2638delG" "Heterozygous. Microhaematuria." "Germline" "" "" "0" "" "" "g.227056026del" "" "pathogenic" "" "0000150279" "0" "97" "2" "227920797" "227920797" "del" "0" "00687" "COL4A4_000062" "g.227920797del" "" "{PMID:Buzza 2003:12631110}" "" "c.2581_2582delG" "heterozygous; missense" "Germline" "" "" "0" "" "" "g.227056081del" "" "pathogenic" "" "0000150280" "0" "97" "2" "227920787" "227920787" "subst" "0" "00687" "COL4A4_000063" "g.227920787C>A" "" "{PMID:Frasca 2005:15618242}" "" "" "Heterozygous. Missense" "Germline" "" "" "0" "" "" "g.227056071C>A" "" "pathogenic" "" "0000150281" "3" "97" "2" "227920687" "227920687" "subst" "0" "00687" "COL4A4_000064" "g.227920687C>T" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "Homozygous. Missense." "Germline" "" "" "0" "" "" "g.227055971C>T" "" "pathogenic" "" "0000150282" "0" "13" "2" "227896976" "227896976" "subst" "0.473076" "00687" "COL4A4_000092" "g.227896976C>T" "" "{PMID:Lemmink 1996:08787673}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.227032260C>T" "" "benign" "" "0000150283" "0" "13" "2" "227919458" "227919458" "subst" "0.0113831" "00687" "COL4A4_000065" "g.227919458T>A" "" "{PMID:Frasca 2005:15618242}" "" "" "" "Germline" "" "" "0" "" "" "g.227054742T>A" "" "benign" "" "0000150284" "0" "13" "2" "227919458" "227919458" "subst" "0.0113831" "00687" "COL4A4_000065" "g.227919458T>A" "" "{PMID:Buzza 2003:12631110}" "" "" "" "Germline" "" "" "0" "" "" "g.227054742T>A" "" "benign" "" "0000150285" "3" "13" "2" "227919458" "227919458" "subst" "0.0113831" "00687" "COL4A4_000065" "g.227919458T>A" "" "{PMID:Boye 1998:09792860}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.227054742T>A" "" "benign" "" "0000150286" "0" "70" "2" "227919448" "227919448" "subst" "5.70674E-5" "00687" "COL4A4_000066" "g.227919448G>A" "" "{PMID:Slajpah 2007:17396119}" "" "" "intronic/ splice site" "Germline" "" "" "0" "" "" "g.227054732G>A" "" "likely pathogenic" "" "0000150287" "0" "97" "2" "227919427" "227919427" "del" "0" "00687" "COL4A4_000067" "g.227919427del" "" "{PMID:Dagher 2002:12325029}" "" "" "Heterozygous (2nd mutation not found)" "Germline" "" "" "0" "" "" "g.227054711del" "" "pathogenic" "" "0000150288" "3" "50" "2" "227919379" "227919379" "subst" "0.00312297" "00687" "COL4A4_000068" "g.227919379C>T" "" "{PMID:Boye 1998:09792860}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.227054663C>T" "" "VUS" "" "0000150289" "0" "97" "2" "227919308" "227919308" "subst" "0" "00687" "COL4A4_000069" "g.227919308A>C" "" "{PMID:Slajpah 2007:17396119}" "" "" "Heterozygous. Intronic/splice site." "Germline" "" "" "0" "" "" "g.227054592A>C" "" "pathogenic" "" "0000150290" "0" "97" "2" "227917120" "227917120" "subst" "0" "00687" "COL4A4_000070" "g.227917120C>G" "" "{PMID:Pescucci 2004:15086897}" "" "" "Heterozygous. Missense" "Germline" "" "" "0" "" "" "g.227052404C>G" "" "pathogenic" "" "0000150291" "0" "97" "2" "227917119" "227917119" "subst" "0" "00687" "COL4A4_000071" "g.227917119C>T" "" "{PMID:Ozen 2001:11685592}" "" "" "Heterozygous. Missense." "Germline" "" "" "0" "" "" "g.227052403C>T" "" "pathogenic" "" "0000150292" "0" "13" "2" "227917112" "227917112" "subst" "0.00100326" "00687" "COL4A4_000072" "g.227917112G>A" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227052396G>A" "" "benign" "" "0000150293" "0" "70" "2" "227917111" "227917111" "subst" "1.21853E-5" "00687" "COL4A4_000073" "g.227917111C>T" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227052395C>T" "" "likely pathogenic" "" "0000150294" "0" "97" "2" "227917111" "227917111" "subst" "1.21853E-5" "00687" "COL4A4_000073" "g.227917111C>T" "" "{PMID:Buzza 2003:12631110}" "" "" "heterozygous; missense" "Germline" "" "" "0" "" "" "g.227052395C>T" "" "pathogenic" "" "0000150295" "3" "97" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Dagher 2002:12325029}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000150296" "0" "97" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Dagher 2002:12325029}" "" "" "Heterozygous; Nonsense" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000150297" "0" "97" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Buzza 2003:12631110}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000150298" "0" "13" "2" "227915924" "227915924" "subst" "0.0905171" "00687" "COL4A4_000077" "g.227915924T>C" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227051208T>C" "" "benign" "" "0000150299" "0" "13" "2" "227916039" "227916039" "subst" "0" "00687" "COL4A4_000078" "g.227916039T>C" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227051323T>C" "" "benign" "" "0000150300" "0" "70" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "{PMID:Buzza 2003:12631110}" "" "" "heterozygous; missense" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "likely pathogenic" "" "0000150301" "0" "70" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "{PMID:Slajpah 2007:17396119}" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "likely pathogenic" "" "0000150302" "0" "13" "2" "227915832" "227915832" "subst" "0.520569" "00687" "COL4A4_000080" "g.227915832G>A" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227051116G>A" "" "benign" "" "0000150303" "0" "13" "2" "227915832" "227915832" "subst" "0.520569" "00687" "COL4A4_000080" "g.227915832G>A" "" "{PMID:Buzza 2003:12631110}" "" "" "" "Germline" "" "" "0" "" "" "g.227051116G>A" "" "benign" "" "0000150304" "0" "13" "2" "227915832" "227915832" "subst" "0.520569" "00687" "COL4A4_000080" "g.227915832G>A" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227051116G>A" "" "benign" "" "0000150305" "0" "13" "2" "227915832" "227915832" "subst" "0.520569" "00687" "COL4A4_000080" "g.227915832G>A" "" "{PMID:Dagher 2002:12325029}" "" "" "" "Germline" "" "" "0" "" "" "g.227051116G>A" "" "benign" "" "0000150306" "0" "13" "2" "227915832" "227915832" "subst" "0.520569" "00687" "COL4A4_000080" "g.227915832G>A" "" "{PMID:Boye 1998:09792860}" "" "" "" "Germline" "" "" "0" "" "" "g.227051116G>A" "" "benign" "" "0000150307" "0" "13" "2" "227915832" "227915832" "subst" "0.520569" "00687" "COL4A4_000080" "g.227915832G>A" "" "{PMID:Slajpah 2007:17396119}" "" "" "" "Germline" "" "" "0" "" "" "g.227051116G>A" "" "benign" "" "0000150308" "0" "13" "2" "227915832" "227915832" "subst" "0.520569" "00687" "COL4A4_000080" "g.227915832G>A" "" "{PMID:Marcocci 2009:19129241}" "" "" "" "Germline" "" "" "0" "" "" "g.227051116G>A" "" "benign" "" "0000150309" "0" "13" "2" "227915832" "227915832" "subst" "0.520569" "00687" "COL4A4_000080" "g.227915832G>A" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227051116G>A" "" "benign" "" "0000150310" "0" "97" "2" "227915754" "227915754" "subst" "4.06141E-6" "00687" "COL4A4_000081" "g.227915754C>A" "" "{PMID:Boye 1998:09792860}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.227051038C>A" "" "pathogenic" "" "0000150311" "0" "97" "2" "227915693" "227915698" "delins" "0" "00687" "COL4A4_000082" "g.227915693_227915698delinsG" "" "{PMID:Slajpah 2007:17396119}" "" "3145delGACCAGinsC" "Heterozygous. Deletion/insertion." "Germline" "" "" "0" "" "" "g.227050977_227050982delinsG" "" "pathogenic" "" "0000150312" "0" "13" "2" "227915601" "227915601" "subst" "0" "00687" "COL4A4_000083" "g.227915601G>T" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227050885G>T" "" "benign" "" "0000150313" "0" "13" "2" "227914975" "227914975" "subst" "0" "00687" "COL4A4_000084" "g.227914975T>G" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227050259T>G" "" "benign" "" "0000150314" "0" "13" "2" "227914655" "227914655" "subst" "0" "00687" "COL4A4_000085" "g.227914655C>G" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227049939C>G" "" "benign" "" "0000150315" "0" "13" "2" "227912331" "227912331" "subst" "0" "00687" "COL4A4_000086" "g.227912331G>A" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227047615G>A" "" "benign" "" "0000150316" "0" "70" "2" "227912260" "227912260" "dup" "0" "00687" "COL4A4_000087" "g.227912260dup" "" "{PMID:Badenas 2002:11961012}" "" "c.3222_3223insA" "insertion" "Germline" "" "" "0" "" "" "g.227047544dup" "" "likely pathogenic" "" "0000150317" "0" "97" "2" "227912190" "227912190" "subst" "0" "00687" "COL4A4_000088" "g.227912190C>T" "" "{PMID:Marcocci 2009:19129241}" "" "" "Heterozygous. Intronic/Splice site" "Germline" "" "" "0" "" "" "g.227047474C>T" "" "pathogenic" "" "0000150318" "0" "97" "2" "227912190" "227912190" "subst" "0" "00687" "COL4A4_000088" "g.227912190C>T" "" "{PMID:Marcocci 2009:19129241}" "" "" "Heterozygous. Intronic/Splice site" "Germline" "" "" "0" "" "" "g.227047474C>T" "" "pathogenic" "" "0000150319" "0" "97" "2" "227912190" "227912190" "subst" "0" "00687" "COL4A4_000088" "g.227912190C>T" "" "{PMID:Slajpah 2007:17396119}" "" "" "Heterozygous. Intronic/splice site." "Germline" "" "" "0" "" "" "g.227047474C>T" "" "pathogenic" "" "0000150320" "0" "13" "2" "227907884" "227907884" "subst" "8.13696E-5" "00687" "COL4A4_000089" "g.227907884G>C" "" "{PMID:Slajpah 2007:17396119}" "" "" "" "Germline" "" "" "0" "" "" "g.227043168G>C" "" "benign" "" "0000150321" "0" "13" "2" "227907884" "227907884" "subst" "8.13696E-5" "00687" "COL4A4_000089" "g.227907884G>C" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227043168G>C" "" "benign" "" "0000150322" "0" "70" "2" "227907795" "227907795" "subst" "0" "00687" "COL4A4_000090" "g.227907795G>A" "" "{PMID:Buzza 2003:12631110}" "" "" "" "Germline" "" "" "0" "" "" "g.227043079G>A" "" "likely pathogenic" "" "0000150323" "0" "70" "2" "227898205" "227898205" "subst" "0" "00687" "COL4A4_000091" "g.227898205A>C" "" "{PMID:Slajpah 2007:17396119}" "" "" "intronic/ splice site" "Germline" "" "" "0" "" "" "g.227033489A>C" "" "likely pathogenic" "" "0000150324" "0" "13" "2" "227896976" "227896976" "subst" "0.473076" "00687" "COL4A4_000092" "g.227896976C>T" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227032260C>T" "" "benign" "" "0000150325" "0" "13" "2" "227896976" "227896976" "subst" "0.473076" "00687" "COL4A4_000092" "g.227896976C>T" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227032260C>T" "" "benign" "" "0000150326" "0" "13" "2" "227896976" "227896976" "subst" "0.473076" "00687" "COL4A4_000092" "g.227896976C>T" "" "{PMID:Marcocci 2009:19129241}" "" "" "" "Germline" "" "" "0" "" "" "g.227032260C>T" "" "benign" "" "0000150327" "0" "13" "2" "227896976" "227896976" "subst" "0.473076" "00687" "COL4A4_000092" "g.227896976C>T" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227032260C>T" "" "benign" "" "0000150328" "3" "97" "2" "227896969" "227896969" "subst" "0" "00687" "COL4A4_000108" "g.227896969C>T" "" "{PMID:Mochizuki 1994:07987396}" "" "" "" "Germline" "" "" "0" "" "" "g.227032253C>T" "" "pathogenic" "" "0000150329" "0" "13" "2" "227896886" "227896886" "subst" "0.474305" "00687" "COL4A4_000094" "g.227896886C>T" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227032170C>T" "" "benign" "" "0000150330" "0" "13" "2" "227896886" "227896886" "subst" "0.474305" "00687" "COL4A4_000094" "g.227896886C>T" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227032170C>T" "" "benign" "" "0000150331" "0" "13" "2" "227896886" "227896886" "subst" "0.474305" "00687" "COL4A4_000094" "g.227896886C>T" "" "{PMID:Marcocci 2009:19129241}" "" "" "" "Germline" "" "" "0" "" "" "g.227032170C>T" "" "benign" "" "0000150332" "0" "13" "2" "227896886" "227896886" "subst" "0.474305" "00687" "COL4A4_000094" "g.227896886C>T" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227032170C>T" "" "benign" "" "0000150333" "3" "97" "2" "227896765" "227896765" "subst" "0" "00687" "COL4A4_000095" "g.227896765G>T" "" "{PMID:Mochizuki 1994:07987396}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.227032049G>T" "" "pathogenic" "" "0000150334" "0" "13" "2" "227896652" "227896652" "subst" "0.473931" "00687" "COL4A4_000097" "g.227896652C>G" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227031936C>G" "" "benign" "" "0000150335" "0" "13" "2" "227895125" "227895125" "subst" "0.475141" "00687" "COL4A4_000098" "g.227895125A>G" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227030409A>G" "" "benign" "" "0000150336" "0" "13" "2" "227892720" "227892720" "subst" "0.470498" "00687" "COL4A4_000099" "g.227892720C>T" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227028004C>T" "" "benign" "" "0000150337" "0" "13" "2" "227892720" "227892720" "subst" "0.470498" "00687" "COL4A4_000099" "g.227892720C>T" "" "{PMID:Marcocci 2009:19129241}" "" "" "" "Germline" "" "" "0" "" "" "g.227028004C>T" "" "benign" "" "0000150338" "0" "13" "2" "227892720" "227892720" "subst" "0.470498" "00687" "COL4A4_000099" "g.227892720C>T" "" "{PMID:Slajpah 2007:17396119}" "" "" "" "Germline" "" "" "0" "" "" "g.227028004C>T" "" "benign" "" "0000150339" "0" "13" "2" "227892619" "227892619" "subst" "0.472301" "00687" "COL4A4_000100" "g.227892619C>T" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227027903C>T" "" "benign" "" "0000150340" "0" "13" "2" "227892619" "227892619" "subst" "0.472301" "00687" "COL4A4_000100" "g.227892619C>T" "" "{PMID:Marcocci 2009:19129241}" "" "" "" "Germline" "" "" "0" "" "" "g.227027903C>T" "" "benign" "" "0000150341" "0" "13" "2" "227892619" "227892619" "subst" "0.472301" "00687" "COL4A4_000100" "g.227892619C>T" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227027903C>T" "" "benign" "" "0000150342" "0" "13" "2" "227892619" "227892619" "subst" "0.472301" "00687" "COL4A4_000100" "g.227892619C>T" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227027903C>T" "" "benign" "" "0000150343" "0" "13" "2" "227890562" "227890562" "subst" "0" "00687" "COL4A4_000102" "g.227890562C>A" "" "{PMID:Buzza 2003:12631110}" "" "" "" "Germline" "" "" "0" "" "" "g.227025846C>A" "" "benign" "" "0000150344" "0" "97" "2" "227890517" "227890520" "del" "0" "00687" "COL4A4_000103" "g.227890517_227890520del" "" "{PMID:Nagel 2005:15954103}" "" "4088delGAGG" "" "Germline" "" "" "0" "" "" "g.227025801_227025804del" "" "pathogenic" "" "0000150345" "0" "13" "2" "227886925" "227886925" "subst" "0.460684" "00687" "COL4A4_000104" "g.227886925C>T" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227022209C>T" "" "benign" "" "0000150346" "0" "13" "2" "227886776" "227886776" "subst" "0" "00687" "COL4A4_000106" "g.227886776G>A" "" "{PMID:Marcocci 2009:19129241}" "" "" "" "Germline" "" "" "0" "" "" "g.227022060G>A" "" "benign" "" "0000150347" "0" "13" "2" "227886774" "227886774" "subst" "0" "00687" "COL4A4_000107" "g.227886774G>A" "" "{PMID:Boye 1998:09792860}" "" "" "" "Germline" "" "" "0" "" "" "g.227022058G>A" "" "benign" "" "0000150348" "0" "97" "2" "227886851" "227886851" "subst" "8.14425E-6" "00687" "COL4A4_000105" "g.227886851G>A" "" "{PMID:Buzza 2001:11473630}" "" "" "" "Germline" "" "" "0" "" "" "g.227022135G>A" "" "pathogenic" "" "0000150349" "0" "97" "2" "227886851" "227886851" "subst" "8.14425E-6" "00687" "COL4A4_000105" "g.227886851G>A" "" "{PMID:Buzza 2003:12631110}" "" "" "Compound heterozygous (with c.805_808insA); Nonsense" "Germline" "" "" "0" "" "" "g.227022135G>A" "" "pathogenic" "" "0000150350" "0" "97" "2" "227886850" "227886850" "subst" "2.85042E-5" "00687" "COL4A4_000109" "g.227886850C>T" "" "{PMID:Frasca 2005:15618242}" "" "" "Heterozygous. Missense" "Germline" "" "" "0" "" "" "g.227022134C>T" "" "pathogenic" "" "0000150351" "0" "13" "2" "227886773" "227886773" "subst" "0.477807" "00687" "COL4A4_000110" "g.227886773A>G" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227022057A>G" "" "benign" "" "0000150352" "0" "13" "2" "227886773" "227886773" "subst" "0.477807" "00687" "COL4A4_000110" "g.227886773A>G" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227022057A>G" "" "benign" "" "0000150353" "0" "13" "2" "227886773" "227886773" "subst" "0.477807" "00687" "COL4A4_000110" "g.227886773A>G" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227022057A>G" "" "benign" "" "0000150354" "0" "13" "2" "227877037" "227877037" "subst" "0.478293" "00687" "COL4A4_000111" "g.227877037G>A" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227012321G>A" "" "benign" "" "0000150355" "0" "13" "2" "227875232" "227875232" "subst" "0" "00687" "COL4A4_000112" "g.227875232G>A" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227010516G>A" "" "benign" "" "0000150356" "3" "79" "2" "227875240" "227875240" "subst" "0" "00687" "COL4A4_000113" "g.227875240T>C" "" "{PMID:Boye 1998:09792860}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.227010524T>C" "" "likely pathogenic" "" "0000150357" "0" "97" "2" "227875059" "227875059" "del" "0" "00687" "COL4A4_000114" "g.227875059del" "" "{PMID:Marcocci 2009:19129241}" "" "" "Heterozygous. Deletion." "Germline" "" "" "0" "" "" "g.227010343del" "" "pathogenic" "" "0000150358" "0" "53" "2" "227873028" "227873028" "subst" "0.4674" "00687" "COL4A4_000115" "g.227873028A>G" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227008312A>G" "" "VUS" "" "0000150359" "0" "53" "2" "227873028" "227873028" "subst" "0.4674" "00687" "COL4A4_000115" "g.227873028A>G" "" "{PMID:Dagher 2002:12325029}" "" "" "intronic/ splice site" "Germline" "" "" "0" "" "" "g.227008312A>G" "" "VUS" "" "0000150360" "0" "13" "2" "227872995" "227872995" "subst" "0.557962" "00687" "COL4A4_000116" "g.227872995T>C" "" "{PMID:Marcocci 2009:19129241}" "" "" "" "Germline" "" "" "0" "" "" "g.227008279T>C" "" "benign" "" "0000150361" "0" "13" "2" "227872995" "227872995" "subst" "0.557962" "00687" "COL4A4_000116" "g.227872995T>C" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227008279T>C" "" "benign" "" "0000150362" "0" "13" "2" "227872995" "227872995" "subst" "0.557962" "00687" "COL4A4_000116" "g.227872995T>C" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227008279T>C" "" "benign" "" "0000150363" "0" "13" "2" "227872995" "227872995" "subst" "0.557962" "00687" "COL4A4_000116" "g.227872995T>C" "" "{PMID:Dagher 2002:12325029}" "" "" "" "Germline" "" "" "0" "" "" "g.227008279T>C" "" "benign" "" "0000150364" "3" "13" "2" "227872995" "227872995" "subst" "0.557962" "00687" "COL4A4_000116" "g.227872995T>C" "" "{PMID:Buzza 2003:12631110}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.227008279T>C" "" "benign" "" "0000150365" "0" "13" "2" "227872995" "227872995" "subst" "0.557962" "00687" "COL4A4_000116" "g.227872995T>C" "" "{PMID:Slajpah 2007:17396119}" "" "" "" "Germline" "" "" "0" "" "" "g.227008279T>C" "" "benign" "" "0000150366" "0" "13" "2" "227872995" "227872995" "subst" "0.557962" "00687" "COL4A4_000116" "g.227872995T>C" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227008279T>C" "" "benign" "" "0000150367" "0" "97" "2" "227872828" "227872828" "subst" "0.000142693" "00687" "COL4A4_000117" "g.227872828G>A" "" "{PMID:Boye 1998:09792860}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.227008112G>A" "" "pathogenic" "" "0000150368" "0" "13" "2" "227872812" "227872812" "subst" "0.00213442" "00687" "COL4A4_000118" "g.227872812C>T" "" "{PMID:Rana 2007:17216251}" "" "" "" "Germline" "" "" "0" "" "" "g.227008096C>T" "" "benign" "" "0000150369" "0" "97" "2" "227872297" "227872297" "subst" "3.68768E-5" "00687" "COL4A4_000119" "g.227872297C>T" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227007581C>T" "" "pathogenic" "" "0000150370" "0" "97" "2" "227872214" "227872214" "subst" "0" "00687" "COL4A4_000120" "g.227872214A>T" "" "{PMID:Pescucci 2004:15086897}" "" "" "Heterozygous. Missense" "Germline" "" "" "0" "" "" "g.227007498A>T" "" "pathogenic" "" "0000150371" "0" "13" "2" "227872182" "227872182" "subst" "0.467875" "00687" "COL4A4_000122" "g.227872182G>A" "" "{PMID:Badenas 2002:11961012}" "" "" "" "Germline" "" "" "0" "" "" "g.227007466G>A" "" "benign" "" "0000150372" "3" "13" "2" "227872182" "227872182" "subst" "0.467875" "00687" "COL4A4_000122" "g.227872182G>A" "" "{PMID:Buzza 2003:12631110}" "" "" "Homozygous; polymorphism" "Germline" "" "" "0" "" "" "g.227007466G>A" "" "benign" "" "0000150373" "0" "13" "2" "227872182" "227872182" "subst" "0.467875" "00687" "COL4A4_000122" "g.227872182G>A" "" "{PMID:Baek 2009:19675380}" "" "" "" "Germline" "" "" "0" "" "" "g.227007466G>A" "" "benign" "" "0000150374" "0" "13" "2" "227872182" "227872182" "subst" "0.467875" "00687" "COL4A4_000122" "g.227872182G>A" "" "{PMID:Slajpah 2007:17396119}" "" "" "" "Germline" "" "" "0" "" "" "g.227007466G>A" "" "benign" "" "0000150375" "0" "13" "2" "227872182" "227872182" "subst" "0.467875" "00687" "COL4A4_000122" "g.227872182G>A" "" "{PMID:Tazon Vega 2003:14582039}" "" "" "" "Germline" "" "" "0" "" "" "g.227007466G>A" "" "benign" "" "0000150376" "0" "13" "2" "227872182" "227872182" "subst" "0.467875" "00687" "COL4A4_000122" "g.227872182G>A" "" "{PMID:Marcocci 2009:19129241}" "" "" "" "Germline" "" "" "0" "" "" "g.227007466G>A" "" "benign" "" "0000150377" "0" "70" "2" "227872085" "227872085" "subst" "8.12196E-5" "00687" "COL4A4_000123" "g.227872085G>A" "" "{PMID:Rana 2007:17216251}" "" "" "Heterozygous. Missense" "Germline" "" "" "0" "" "" "g.227007369G>A" "" "likely pathogenic" "" "0000150378" "0" "97" "2" "227872069" "227872069" "subst" "0.000125889" "00687" "COL4A4_000124" "g.227872069C>T" "" "{PMID:Rana 2007:17216251}" "" "" "Heterozygous. Missense" "Germline" "" "" "0" "" "" "g.227007353C>T" "" "pathogenic" "" "0000150379" "0" "13" "2" "227954599" "227954599" "subst" "0.540535" "00687" "COL4A4_000034" "g.227954599G>A" "" "{PMID:Hou 2007:17726307}" "" "" "" "Germline" "" "" "0" "" "" "g.227089883G>A" "" "benign" "" "0000150380" "0" "13" "2" "227896976" "227896976" "subst" "0.473076" "00687" "COL4A4_000092" "g.227896976C>T" "" "{PMID:Hou 2007:17726307}" "" "" "" "Germline" "" "" "0" "" "" "g.227032260C>T" "" "benign" "" "0000150381" "0" "13" "2" "227896886" "227896886" "subst" "0.474305" "00687" "COL4A4_000094" "g.227896886C>T" "" "{PMID:Hou 2007:17726307}" "" "" "" "Germline" "" "" "0" "" "" "g.227032170C>T" "" "benign" "" "0000150382" "0" "13" "2" "227872995" "227872995" "subst" "0.557962" "00687" "COL4A4_000116" "g.227872995T>C" "" "{PMID:Hou 2007:17726307}" "" "" "" "Germline" "" "" "0" "" "" "g.227008279T>C" "" "benign" "" "0000150383" "0" "13" "2" "227872182" "227872182" "subst" "0.467875" "00687" "COL4A4_000122" "g.227872182G>A" "" "{PMID:Hou 2007:17726307}" "" "" "" "Germline" "" "" "0" "" "" "g.227007466G>A" "" "benign" "" "0000150384" "0" "97" "2" "227896924" "227896924" "del" "0" "00687" "COL4A4_000093" "g.227896924del" "" "{PMID:Marcocci 2009:19129241}" "" "3646delG" "" "Germline" "" "" "0" "" "" "g.227032208del" "" "pathogenic" "" "0000150385" "0" "97" "2" "228012150" "228012150" "subst" "0.000824747" "00687" "COL4A4_000213" "g.228012150T>C" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227147434T>C" "" "pathogenic" "" "0000150386" "0" "50" "2" "227985827" "227985827" "subst" "0" "00687" "COL4A4_000214" "g.227985827C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227121111C>T" "" "VUS" "" "0000150387" "0" "00" "2" "227973576" "227973576" "subst" "0.00162281" "00687" "COL4A4_000215" "g.227973576C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227108860C>T" "" "" "" "0000150388" "0" "50" "2" "227966608" "227966608" "subst" "0.00652384" "00687" "COL4A4_000216" "g.227966608A>G" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227101892A>G" "" "VUS" "" "0000150389" "0" "00" "2" "227958887" "227958887" "subst" "0.0038205" "00687" "COL4A4_000217" "g.227958887A>G" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227094171A>G" "" "" "" "0000150390" "0" "50" "2" "227954647" "227954647" "dup" "0" "00687" "COL4A4_000218" "g.227954647dup" "" "1000 genomes" "" "c.1397insG" "" "Germline" "" "" "0" "" "" "g.227089931dup" "" "VUS" "" "0000150391" "0" "50" "2" "227945181" "227945181" "subst" "0.0052517" "00687" "COL4A4_000219" "g.227945181T>C" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227080465T>C" "" "VUS" "" "0000150392" "0" "50" "2" "227942778" "227942778" "subst" "0.000277223" "00687" "COL4A4_000220" "g.227942778C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227078062C>T" "" "VUS" "" "0000150393" "0" "00" "2" "227942776" "227942776" "subst" "0.00311845" "00687" "COL4A4_000221" "g.227942776C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227078060C>T" "" "" "" "0000150394" "0" "50" "2" "227927294" "227927294" "subst" "0.00391152" "00687" "COL4A4_000222" "g.227927294C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227062578C>T" "" "VUS" "" "0000150395" "0" "00" "2" "227927268" "227927268" "subst" "0" "00687" "COL4A4_000223" "g.227927268A>G" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227062552A>G" "" "" "" "0000150396" "0" "50" "2" "227924872" "227924872" "subst" "0.000116398" "00687" "COL4A4_000224" "g.227924872G>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227060156G>A" "" "VUS" "" "0000150397" "0" "50" "2" "227924228" "227924228" "subst" "0.00653454" "00687" "COL4A4_000225" "g.227924228G>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227059512G>A" "" "VUS" "" "0000150398" "0" "00" "2" "227922261" "227922261" "subst" "0.0038911" "00687" "COL4A4_000226" "g.227922261T>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227057545T>A" "" "" "" "0000150399" "0" "50" "2" "227920748" "227920748" "subst" "8.12876E-5" "00687" "COL4A4_000227" "g.227920748G>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227056032G>A" "" "VUS" "" "0000150400" "0" "00" "2" "227919374" "227919374" "subst" "0.0030986" "00687" "COL4A4_000228" "g.227919374C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227054658C>T" "" "" "" "0000150401" "0" "00" "2" "227917082" "227917082" "subst" "0.00113714" "00687" "COL4A4_000229" "g.227917082T>G" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227052366T>G" "" "" "" "0000150402" "0" "00" "2" "227867329" "227867329" "subst" "0" "00687" "COL4A4_000230" "g.227867329G>A" "" "1000 genomes" "" "" "Variant Error [EREF/ERANGE]: 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.227002613G>A" "" "" "" "0000150403" "0" "50" "2" "227912248" "227912248" "subst" "0.00142051" "00687" "COL4A4_000231" "g.227912248C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227047532C>T" "" "VUS" "" "0000150404" "0" "50" "2" "227912247" "227912247" "subst" "0.00310104" "00687" "COL4A4_000232" "g.227912247G>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227047531G>A" "" "VUS" "" "0000150405" "0" "50" "2" "227907838" "227907838" "subst" "4.06828E-6" "00687" "COL4A4_000233" "g.227907838C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227043122C>T" "" "VUS" "" "0000150406" "0" "00" "2" "227906883" "227906883" "subst" "0.0040474" "00687" "COL4A4_000234" "g.227906883T>C" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227042167T>C" "" "" "" "0000150407" "0" "00" "2" "227895270" "227895270" "subst" "4.0785E-6" "00687" "COL4A4_000235" "g.227895270T>G" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227030554T>G" "" "" "" "0000150408" "0" "50" "2" "227895261" "227895261" "subst" "0.00165023" "00687" "COL4A4_000236" "g.227895261G>C" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227030545G>C" "" "VUS" "" "0000150409" "0" "00" "2" "227895169" "227895169" "subst" "0.00156602" "00687" "COL4A4_000237" "g.227895169A>G" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227030453A>G" "" "" "" "0000150410" "0" "00" "2" "227892709" "227892709" "subst" "6.17757E-5" "00687" "COL4A4_000238" "g.227892709C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227027993C>T" "" "" "" "0000150411" "0" "00" "2" "227886858" "227886858" "subst" "8.14817E-6" "00687" "COL4A4_000239" "g.227886858G>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227022142G>A" "" "" "" "0000150412" "0" "00" "2" "227886828" "227886828" "subst" "0.000589637" "00687" "COL4A4_000240" "g.227886828C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227022112C>T" "" "" "" "0000150413" "0" "00" "2" "227886795" "227886795" "subst" "0.000341366" "00687" "COL4A4_000241" "g.227886795C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227022079C>T" "" "" "" "0000150414" "0" "50" "2" "227877002" "227877002" "subst" "0" "00687" "COL4A4_000242" "g.227877002C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227012286C>T" "" "VUS" "" "0000150415" "0" "50" "2" "227875202" "227875202" "subst" "0.000378187" "00687" "COL4A4_000243" "g.227875202A>G" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227010486A>G" "" "VUS" "" "0000150416" "0" "50" "2" "227872887" "227872887" "subst" "0.00321113" "00687" "COL4A4_000244" "g.227872887C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227008171C>T" "" "VUS" "" "0000150417" "0" "00" "2" "227872098" "227872098" "subst" "0.00064164" "00687" "COL4A4_000245" "g.227872098T>C" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227007382T>C" "" "" "" "0000150418" "0" "00" "2" "227985859" "227985859" "subst" "0.00157051" "00687" "COL4A4_000246" "g.227985859T>C" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227121143T>C" "" "" "" "0000150419" "0" "50" "2" "227976425" "227976425" "subst" "4.06395E-6" "00687" "COL4A4_000362" "g.227976425T>C" "" "1000 genomes" "" "203A>G (Asp188Gly)" "" "Germline" "" "" "0" "" "" "g.227111709T>C" "" "VUS" "" "0000150420" "0" "00" "2" "227954615" "227954615" "subst" "4.06319E-5" "00687" "COL4A4_000248" "g.227954615G>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227089899G>A" "" "" "" "0000150421" "0" "50" "2" "227953425" "227953425" "subst" "3.25304E-5" "00687" "COL4A4_000249" "g.227953425G>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227088709G>A" "" "VUS" "" "0000150422" "0" "00" "2" "227946862" "227946862" "subst" "5.68703E-5" "00687" "COL4A4_000250" "g.227946862C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227082146C>T" "" "" "" "0000150423" "0" "50" "2" "227924944" "227924944" "subst" "0" "00687" "COL4A4_000251" "g.227924944G>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227060228G>A" "" "VUS" "" "0000150424" "0" "50" "2" "227896926" "227896926" "subst" "1.21924E-5" "00687" "COL4A4_000252" "g.227896926G>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227032210G>A" "" "VUS" "" "0000150425" "0" "00" "2" "227892658" "227892658" "subst" "0.0057045" "00687" "COL4A4_000253" "g.227892658T>C" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227027942T>C" "" "" "" "0000150426" "0" "50" "2" "227886785" "227886785" "subst" "0.000845096" "00687" "COL4A4_000254" "g.227886785T>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227022069T>A" "" "VUS" "" "0000150427" "0" "00" "2" "227886774" "227886774" "subst" "0" "00687" "COL4A4_000107" "g.227886774G>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227022058G>A" "" "" "" "0000150428" "0" "50" "2" "227876908" "227876908" "subst" "4.06177E-6" "00687" "COL4A4_000256" "g.227876908G>A" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227012192G>A" "" "VUS" "" "0000150429" "0" "00" "2" "227872953" "227872953" "subst" "2.03312E-5" "00687" "COL4A4_000257" "g.227872953C>T" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227008237C>T" "" "" "" "0000150430" "0" "50" "2" "227953412" "227953412" "subst" "0" "00687" "COL4A4_000258" "g.227953412G>C" "" "1000 genomes" "" "" "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.227088696G>C" "" "VUS" "" "0000150431" "0" "00" "2" "227872257" "227872257" "subst" "0.000617128" "00687" "COL4A4_000259" "g.227872257A>G" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227007541A>G" "" "" "" "0000150432" "0" "50" "2" "227872169" "227872169" "subst" "5.68634E-5" "00687" "COL4A4_000260" "g.227872169T>C" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227007453T>C" "" "VUS" "" "0000150433" "0" "50" "2" "227872084" "227872085" "delins" "0" "00687" "COL4A4_000261" "g.227872084_227872085delinsT" "" "1000 genomes" "" "c.5029CG>A" "" "Germline" "" "" "0" "" "" "g.227007368_227007369delinsT" "" "VUS" "" "0000150434" "0" "00" "2" "228004931" "228004931" "subst" "4.06164E-6" "00687" "COL4A4_000262" "g.228004931A>G" "" "1000 genomes" "" "" "" "Germline" "" "" "0" "" "" "g.227140215A>G" "" "" "" "0000150435" "0" "97" "2" "227968740" "227968740" "subst" "0" "00687" "COL4A4_000263" "g.227968740C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227104024C>T" "" "pathogenic" "" "0000150436" "11" "70" "2" "228009262" "228009267" "del" "0" "00466" "COL4A4_000264" "g.228009262_228009267del" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227144546_227144551del" "" "likely pathogenic" "" "0000150437" "0" "70" "2" "228009262" "228009267" "del" "0" "00466" "COL4A4_000264" "g.228009262_228009267del" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227144546_227144551del" "" "likely pathogenic" "" "0000150438" "10" "70" "2" "227953394" "227953394" "subst" "0" "00466" "COL4A4_000265" "g.227953394C>T" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227088678C>T" "" "likely pathogenic" "" "0000150439" "10" "70" "2" "227953394" "227953394" "subst" "0" "00466" "COL4A4_000265" "g.227953394C>T" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227088678C>T" "" "likely pathogenic" "" "0000150440" "10" "90" "2" "227945161" "227945161" "del" "0" "00466" "COL4A4_000041" "g.227945161del" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227080445del" "" "pathogenic" "" "0000150441" "11" "70" "2" "227920787" "227920787" "subst" "0" "00466" "COL4A4_000064" "g.227920787C>T" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227056071C>T" "" "likely pathogenic" "" "0000150442" "10" "90" "2" "227920742" "227920742" "del" "0" "00466" "COL4A4_000061" "g.227920742del" "" "{PMID:Storey 2013:24052634}" "" "c.2635_2638delG" "" "Germline" "" "" "0" "" "" "g.227056026del" "" "pathogenic" "" "0000150443" "11" "70" "2" "227912265" "227912265" "subst" "0" "00466" "COL4A4_000268" "g.227912265C>A" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227047549C>A" "" "likely pathogenic" "" "0000150444" "0" "70" "2" "227873005" "227873005" "subst" "0" "00466" "COL4A4_000269" "g.227873005C>T" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227008289C>T" "" "likely pathogenic" "" "0000150445" "11" "70" "2" "227872738" "227872764" "dup" "0" "00466" "COL4A4_000270" "g.227872738_227872764dup" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227008022_227008048dup" "" "likely pathogenic" "" "0000150446" "3" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00466" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Storey 2013:24052634}" "" "" "apparent homozygous" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000150447" "3" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00466" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Storey 2013:24052634}" "" "" "apparent homozygous" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000150448" "0" "70" "2" "227896968" "227896968" "subst" "4.07004E-6" "00466" "COL4A4_000272" "g.227896968C>T" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227032252C>T" "" "likely pathogenic" "" "0000150449" "21" "90" "2" "227886782" "227886783" "del" "0" "00466" "COL4A4_000274" "g.227886782_227886783del" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227022066_227022067del" "" "pathogenic" "" "0000150450" "1" "70" "2" "227872780" "227872780" "subst" "0" "00466" "COL4A4_000277" "g.227872780C>T" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227008064C>T" "" "likely pathogenic" "" "0000150451" "11" "90" "2" "227872755" "227872755" "subst" "4.10283E-6" "00466" "COL4A4_000278" "g.227872755C>T" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227008039C>T" "" "pathogenic" "" "0000150452" "0" "90" "2" "227964335" "227964335" "subst" "0" "00466" "COL4A4_000279" "g.227964335C>T" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227099619C>T" "" "pathogenic" "" "0000150453" "0" "90" "2" "227920742" "227920742" "del" "0" "00466" "COL4A4_000061" "g.227920742del" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227056026del" "" "pathogenic" "" "0000150454" "0" "70" "2" "227914801" "227914801" "subst" "1.2185E-5" "00466" "COL4A4_000282" "g.227914801C>A" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227050085C>A" "" "likely pathogenic" "" "0000150455" "0" "00" "2" "228012201" "228012201" "subst" "0.0244022" "00687" "COL4A4_000001" "g.228012201G>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227147485G>A" "" "" "" "0000150456" "0" "00" "2" "228012185" "228012185" "subst" "9.34648E-5" "00687" "COL4A4_000283" "g.228012185G>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227147469G>A" "" "" "" "0000150457" "0" "00" "2" "228012183" "228012183" "subst" "0" "00687" "COL4A4_000284" "g.228012183A>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227147467A>T" "" "" "" "0000150458" "0" "00" "2" "228012128" "228012128" "subst" "0" "00687" "COL4A4_000285" "g.228012128C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227147412C>T" "" "" "" "0000150459" "0" "00" "2" "228009262" "228009267" "del" "0" "00687" "COL4A4_000264" "g.228009262_228009267del" "" "Matonagel" "" "79_84delATACTC" "" "Germline" "" "" "0" "" "" "g.227144546_227144551del" "" "" "" "0000150460" "0" "00" "2" "228009262" "228009267" "del" "0" "00687" "COL4A4_000264" "g.228009262_228009267del" "" "Matonagel" "" "79_84delATACTC" "" "Germline" "" "" "0" "" "" "g.227144546_227144551del" "" "" "" "0000150461" "0" "00" "2" "228009262" "228009265" "del" "0" "00687" "COL4A4_000287" "g.228009262_228009265del" "" "Matonagel" "" "81_84delACTC" "" "Germline" "" "" "0" "" "" "g.227144546_227144549del" "" "" "" "0000150462" "0" "00" "2" "227985862" "227985862" "subst" "0.000771223" "00687" "COL4A4_000006" "g.227985862A>G" "" "Matonagel" "" "reported 2 times" "" "Germline" "" "" "0" "" "" "g.227121146A>G" "" "" "" "0000150463" "0" "00" "2" "227983414" "227983414" "subst" "0" "00687" "COL4A4_000289" "g.227983414C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227118698C>T" "" "" "" "0000150464" "0" "00" "2" "227983371" "227983373" "dup" "0" "00687" "COL4A4_000290" "g.227983371_227983373dup" "" "Matonagel" "" "478_480dupGGA" "" "Germline" "" "" "0" "" "" "g.227118655_227118657dup" "" "" "" "0000150465" "0" "00" "2" "227976402" "227976402" "subst" "0" "00687" "COL4A4_000291" "g.227976402C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227111686C>T" "" "" "" "0000150466" "0" "00" "2" "227976393" "227976393" "subst" "0" "00687" "COL4A4_000292" "g.227976393C>G" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227111677C>G" "" "" "" "0000150467" "0" "00" "2" "227973976" "227973976" "subst" "0" "00687" "COL4A4_000293" "g.227973976T>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227109260T>C" "" "" "" "0000150468" "0" "00" "2" "227973297" "227973297" "subst" "4.06243E-6" "00687" "COL4A4_000294" "g.227973297C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227108581C>T" "" "" "" "0000150469" "0" "00" "2" "227968708" "227968708" "subst" "0" "00687" "COL4A4_000295" "g.227968708G>A" "" "Matonagel" "" "" "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.227103992G>A" "" "" "" "0000150470" "0" "00" "2" "227967531" "227967531" "subst" "0" "00687" "COL4A4_000296" "g.227967531C>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227102815C>A" "" "" "" "0000150471" "0" "00" "2" "227967506" "227967506" "subst" "0.00018282" "00687" "COL4A4_000297" "g.227967506C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227102790C>T" "" "" "" "0000150472" "0" "00" "2" "227967475" "227967521" "del" "0" "00687" "COL4A4_000298" "g.227967475_227967521del" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227102759_227102805del" "" "" "" "0000150473" "0" "00" "2" "227966608" "227966608" "subst" "0.00652384" "00687" "COL4A4_000216" "g.227966608A>G" "" "Matonagel" "" "reported 2 times" "" "Germline" "" "" "0" "" "" "g.227101892A>G" "" "" "" "0000150474" "0" "00" "2" "227966272" "227966272" "subst" "0" "00687" "COL4A4_000300" "g.227966272C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227101556C>T" "" "" "" "0000150475" "0" "00" "2" "227964380" "227964380" "subst" "0.000105648" "00687" "COL4A4_000301" "g.227964380G>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227099664G>A" "" "" "" "0000150476" "0" "00" "2" "227964335" "227964335" "subst" "0" "00687" "COL4A4_000279" "g.227964335C>T" "" "Judy Savige" "" "" "" "Germline" "" "" "0" "" "" "g.227099619C>T" "" "" "" "0000150477" "0" "00" "2" "227958987" "227958987" "subst" "0" "00687" "COL4A4_000302" "g.227958987A>G" "" "Matonagel" "" "" "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.227094271A>G" "" "" "" "0000150478" "0" "00" "2" "227958874" "227958891" "del" "0" "00687" "COL4A4_000030" "g.227958874_227958891del" "" "Matonagel" "" "1321_1338delCCTGGCTTGCCTGGAGCA" "" "Germline" "" "" "0" "" "" "g.227094158_227094175del" "" "" "" "0000150479" "0" "00" "2" "227958839" "227958890" "del" "0" "00687" "COL4A4_000304" "g.227958839_227958890del" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227094123_227094174del" "" "" "" "0000150480" "0" "00" "2" "227954599" "227954599" "subst" "0.540535" "00687" "COL4A4_000034" "g.227954599G>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227089883G>A" "" "" "" "0000150481" "0" "00" "2" "227954656" "227954656" "del" "0" "00687" "COL4A4_000305" "g.227954656del" "" "Matonagel" "" "c.1387delG" "" "Germline" "" "" "0" "" "" "g.227089940del" "" "" "" "0000150482" "0" "00" "2" "227954647" "227954647" "subst" "2.03212E-5" "00687" "COL4A4_000306" "g.227954647C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227089931C>T" "" "" "" "0000150483" "0" "00" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "" "" "0000150484" "0" "00" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "" "" "0000150485" "0" "00" "2" "227945181" "227945181" "subst" "0.0052517" "00687" "COL4A4_000219" "g.227945181T>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227080465T>C" "" "" "" "0000150486" "0" "00" "2" "227942777" "227942777" "subst" "8.15894E-6" "00687" "COL4A4_000307" "g.227942777G>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227078061G>A" "" "" "" "0000150487" "0" "00" "2" "227942764" "227942764" "subst" "0.00516493" "00687" "COL4A4_000043" "g.227942764A>G" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227078048A>G" "" "" "" "0000150488" "0" "00" "2" "227942657" "227942674" "del" "0" "00687" "COL4A4_000045" "g.227942657_227942674del" "" "Matonagel" "" "1933_1950delGGAGTTCCAGGCCACCCA" "" "Germline" "" "" "0" "" "" "g.227077941_227077958del" "" "" "" "0000150489" "0" "00" "2" "227942635" "227942635" "subst" "4.91191E-5" "00687" "COL4A4_000309" "g.227942635G>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227077919G>A" "" "" "" "0000150490" "0" "00" "2" "227942616" "227942616" "subst" "0" "00687" "COL4A4_000310" "g.227942616G>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227077900G>A" "" "" "" "0000150491" "0" "00" "2" "227942611" "227942611" "subst" "0" "00687" "COL4A4_000311" "g.227942611T>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227077895T>A" "" "" "" "0000150492" "0" "00" "2" "227942611" "227942611" "subst" "0" "00687" "COL4A4_000311" "g.227942611T>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227077895T>A" "" "" "" "0000150493" "0" "00" "2" "227927294" "227927294" "subst" "0.00391152" "00687" "COL4A4_000222" "g.227927294C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227062578C>T" "" "" "" "0000150494" "0" "00" "2" "227924872" "227924872" "subst" "0.000116398" "00687" "COL4A4_000224" "g.227924872G>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227060156G>A" "" "" "" "0000150495" "0" "00" "2" "227924864" "227924864" "subst" "0" "00687" "COL4A4_000312" "g.227924864G>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227060148G>C" "" "" "" "0000150496" "0" "00" "2" "227924853" "227924854" "ins" "0" "00687" "COL4A4_000313" "g.227924853_227924854insCCTCACTGACCAGGTA" "" "Matonagel" "" "" "NOTE: variant description correct?, should give frame shift and/or influence splicing" "Germline" "" "" "0" "" "" "g.227060137_227060138insCCTCACTGACCAGGTA" "" "" "" "0000150497" "0" "00" "2" "227924333" "227924333" "del" "0" "00687" "COL4A4_000314" "g.227924333del" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227059617del" "" "" "" "0000150498" "0" "00" "2" "227924322" "227924322" "subst" "8.1479E-6" "00687" "COL4A4_000315" "g.227924322C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227059606C>T" "" "" "" "0000150499" "0" "00" "2" "227924322" "227924323" "del" "0" "00687" "COL4A4_000316" "g.227924322_227924323del" "" "Matonagel" "" "2182_2183delGG" "" "Germline" "" "" "0" "" "" "g.227059606_227059607del" "" "" "" "0000150500" "0" "00" "2" "227924288" "227924288" "dup" "0" "00687" "COL4A4_000317" "g.227924288dup" "" "Matonagel" "" "c.2215_2216insC" "" "Germline" "" "" "0" "" "" "g.227059572dup" "" "" "" "0000150501" "0" "00" "2" "227924228" "227924228" "subst" "0.00653454" "00687" "COL4A4_000225" "g.227924228G>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227059512G>A" "" "" "" "0000150502" "0" "00" "2" "227924192" "227924192" "subst" "8.12229E-6" "00687" "COL4A4_000318" "g.227924192C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227059476C>T" "" "" "" "0000150503" "0" "00" "2" "227924184" "227924184" "subst" "7.31012E-5" "00687" "COL4A4_000052" "g.227924184C>G" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227059468C>G" "" "" "" "0000150504" "0" "00" "2" "227924137" "227924137" "subst" "0.00576697" "00687" "COL4A4_000054" "g.227924137T>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227059421T>A" "" "" "" "0000150505" "0" "00" "2" "227924130" "227924130" "del" "0" "00687" "COL4A4_000319" "g.227924130del" "" "Matonagel" "" "c.2374delG" "" "Germline" "" "" "0" "" "" "g.227059414del" "" "" "" "0000150506" "0" "00" "2" "227922270" "227922270" "subst" "0.000142256" "00687" "COL4A4_000320" "g.227922270G>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227057554G>C" "" "" "" "0000150507" "0" "00" "2" "227922261" "227922261" "subst" "0.0038911" "00687" "COL4A4_000226" "g.227922261T>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227057545T>A" "" "" "" "0000150508" "0" "00" "2" "227920760" "227920760" "subst" "0" "00687" "COL4A4_000321" "g.227920760C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227056044C>T" "" "" "" "0000150509" "0" "00" "2" "227920747" "227920747" "subst" "0.00378434" "00687" "COL4A4_000060" "g.227920747C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227056031C>T" "" "" "" "0000150510" "0" "00" "2" "227920742" "227920742" "del" "0" "00687" "COL4A4_000061" "g.227920742del" "" "Judy Savige" "" "" "" "Germline" "" "" "0" "" "" "g.227056026del" "" "" "" "0000150511" "0" "00" "2" "227920687" "227920687" "subst" "0" "00687" "COL4A4_000064" "g.227920687C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227055971C>T" "" "" "" "0000150512" "0" "00" "2" "227920687" "227920687" "subst" "0" "00687" "COL4A4_000064" "g.227920687C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227055971C>T" "" "" "" "0000150513" "0" "00" "2" "227919438" "227919438" "subst" "2.03355E-5" "00687" "COL4A4_000323" "g.227919438G>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227054722G>C" "" "" "" "0000150514" "0" "00" "2" "227919436" "227919436" "subst" "0" "00687" "COL4A4_000324" "g.227919436C>G" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227054720C>G" "" "" "" "0000150515" "0" "00" "2" "227919379" "227919379" "subst" "0.00312297" "00687" "COL4A4_000068" "g.227919379C>T" "" "Matonagel" "" "reported 2 times" "" "Germline" "" "" "0" "" "" "g.227054663C>T" "" "" "" "0000150516" "0" "00" "2" "227919372" "227919372" "subst" "0" "00687" "COL4A4_000326" "g.227919372C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227054656C>T" "" "" "" "0000150517" "0" "00" "2" "227917111" "227917111" "subst" "1.21853E-5" "00687" "COL4A4_000073" "g.227917111C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227052395C>T" "" "" "" "0000150518" "0" "00" "2" "227917111" "227917111" "subst" "1.21853E-5" "00687" "COL4A4_000073" "g.227917111C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227052395C>T" "" "" "" "0000150519" "0" "00" "2" "227917111" "227917111" "subst" "1.21853E-5" "00687" "COL4A4_000073" "g.227917111C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227052395C>T" "" "" "" "0000150520" "0" "00" "2" "227917111" "227917111" "subst" "1.21853E-5" "00687" "COL4A4_000073" "g.227917111C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227052395C>T" "" "" "" "0000150521" "0" "00" "2" "227917105" "227917105" "subst" "0" "00687" "COL4A4_000280" "g.227917105C>A" "" "Judy Savige" "" "" "" "Germline" "" "" "0" "" "" "g.227052389C>A" "" "" "" "0000150522" "0" "00" "2" "227917090" "227917090" "subst" "0.00705472" "00687" "COL4A4_000074" "g.227917090T>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227052374T>C" "" "" "" "0000150523" "0" "00" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "Published in Human mutation online #536" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "" "" "0000150524" "0" "00" "2" "227917039" "227917039" "del" "0" "00687" "COL4A4_000327" "g.227917039del" "" "Judy Savige" "" "" "" "Germline" "" "" "0" "" "" "g.227052323del" "" "" "" "0000150525" "0" "00" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "" "" "0000150526" "0" "00" "2" "227915832" "227915832" "subst" "0.520569" "00687" "COL4A4_000080" "g.227915832G>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227051116G>A" "" "" "" "0000150527" "0" "00" "2" "227915799" "227915799" "subst" "5.68597E-5" "00687" "COL4A4_000328" "g.227915799C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227051083C>T" "" "" "" "0000150528" "0" "00" "2" "227915742" "227915742" "subst" "0" "00687" "COL4A4_000329" "g.227915742G>C" "" "Judy Savige" "" "" "" "Germline" "" "" "0" "" "" "g.227051026G>C" "" "" "" "0000150529" "0" "00" "2" "227915742" "227915742" "subst" "0" "00687" "COL4A4_000329" "g.227915742G>C" "" "Judy Savige" "" "" "" "Germline" "" "" "0" "" "" "g.227051026G>C" "" "" "" "0000150530" "0" "00" "2" "227915742" "227915742" "subst" "0" "00687" "COL4A4_000329" "g.227915742G>C" "" "Judy Savige" "" "" "" "Germline" "" "" "0" "" "" "g.227051026G>C" "" "" "" "0000150531" "0" "00" "2" "227915742" "227915742" "subst" "0" "00687" "COL4A4_000329" "g.227915742G>C" "" "Judy Savige" "" "" "" "Germline" "" "" "0" "" "" "g.227051026G>C" "" "" "" "0000150532" "0" "00" "2" "227915742" "227915742" "subst" "0" "00687" "COL4A4_000329" "g.227915742G>C" "" "Judy Savige" "" "" "" "Germline" "" "" "0" "" "" "g.227051026G>C" "" "" "" "0000150533" "0" "00" "2" "227915734" "227915734" "del" "0" "00687" "COL4A4_000330" "g.227915734del" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227051018del" "" "" "" "0000150534" "0" "00" "2" "227914807" "227914807" "subst" "1.62472E-5" "00687" "COL4A4_000331" "g.227914807A>G" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227050091A>G" "" "" "" "0000150535" "0" "00" "2" "227907884" "227907884" "subst" "0.000113917" "00687" "COL4A4_000332" "g.227907884G>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227043168G>A" "" "" "" "0000150536" "0" "00" "2" "227907801" "227907801" "subst" "0" "00687" "COL4A4_000341" "g.227907801C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227043085C>T" "" "" "" "0000150537" "0" "00" "2" "227906883" "227906883" "subst" "0.0040474" "00687" "COL4A4_000234" "g.227906883T>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227042167T>C" "" "" "" "0000150538" "0" "00" "2" "227898188" "227898188" "delins" "0" "00687" "COL4A4_000333" "g.227898188delinsTTT" "" "Matonagel" "" "3515delGinsAAA" "" "Germline" "" "" "0" "" "" "g.227033472delinsTTT" "" "" "" "0000150539" "0" "00" "2" "227898180" "227898180" "subst" "0" "00687" "COL4A4_000334" "g.227898180C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227033464C>T" "" "" "" "0000150540" "0" "00" "2" "227898162" "227898162" "subst" "0" "00687" "COL4A4_000335" "g.227898162C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227033446C>T" "" "" "" "0000150541" "0" "00" "2" "227896976" "227896976" "subst" "0.473076" "00687" "COL4A4_000092" "g.227896976C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227032260C>T" "" "" "" "0000150542" "0" "00" "2" "227896886" "227896886" "subst" "0.474305" "00687" "COL4A4_000094" "g.227896886C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227032170C>T" "" "" "" "0000150543" "0" "00" "2" "227896862" "227896862" "subst" "0" "00687" "COL4A4_000336" "g.227896862A>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227032146A>C" "" "" "" "0000150544" "0" "00" "2" "227896736" "227896736" "subst" "0" "00687" "COL4A4_000337" "g.227896736C>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227032020C>A" "" "" "" "0000150545" "0" "00" "2" "227895261" "227895261" "subst" "0.00165023" "00687" "COL4A4_000236" "g.227895261G>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227030545G>C" "" "" "" "0000150546" "0" "00" "2" "227895218" "227895219" "delins" "0" "00687" "COL4A4_000338" "g.227895218_227895219delinsC" "" "Matonagel" "" "3913_3914delCCinsG" "" "Germline" "" "" "0" "" "" "g.227030502_227030503delinsC" "" "" "" "0000150547" "0" "00" "2" "227895165" "227895165" "subst" "0" "00687" "COL4A4_000339" "g.227895165G>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227030449G>A" "" "" "" "0000150548" "0" "00" "2" "227892658" "227892658" "subst" "0.0057045" "00687" "COL4A4_000253" "g.227892658T>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227027942T>C" "" "" "" "0000150549" "0" "00" "2" "227892619" "227892619" "subst" "0.472301" "00687" "COL4A4_000100" "g.227892619C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227027903C>T" "" "" "" "0000150550" "0" "00" "2" "227890527" "227890527" "subst" "0" "00687" "COL4A4_000340" "g.227890527C>G" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227025811C>G" "" "" "" "0000150551" "0" "00" "2" "227886773" "227886773" "subst" "0.477807" "00687" "COL4A4_000110" "g.227886773A>G" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227022057A>G" "" "" "" "0000150552" "0" "00" "2" "227886762" "227886762" "subst" "0" "00687" "COL4A4_000342" "g.227886762A>G" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227022046A>G" "" "" "" "0000150553" "0" "00" "2" "227886761" "227886761" "subst" "0" "00687" "COL4A4_000343" "g.227886761T>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227022045T>C" "" "" "" "0000150554" "0" "00" "2" "227875202" "227875202" "subst" "0.000378187" "00687" "COL4A4_000243" "g.227875202A>G" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227010486A>G" "" "" "" "0000150555" "0" "00" "2" "227875157" "227875157" "subst" "7.34634E-5" "00687" "COL4A4_000344" "g.227875157C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227010441C>T" "" "" "" "0000150556" "0" "00" "2" "227875157" "227875157" "subst" "7.34634E-5" "00687" "COL4A4_000344" "g.227875157C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227010441C>T" "" "" "" "0000150557" "0" "00" "2" "227875144" "227875144" "subst" "0" "00687" "COL4A4_000345" "g.227875144A>G" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227010428A>G" "" "" "" "0000150558" "0" "00" "2" "227875134" "227875134" "subst" "2.03317E-5" "00687" "COL4A4_000346" "g.227875134G>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227010418G>T" "" "" "" "0000150559" "0" "00" "2" "227875066" "227875066" "subst" "0" "00687" "COL4A4_000347" "g.227875066G>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227010350G>C" "" "" "" "0000150560" "0" "00" "2" "227873044" "227873046" "del" "0" "00687" "COL4A4_000348" "g.227873044_227873046del" "" "Matonagel" "" "4523-25_4523-23delAGC" "" "Germline" "" "" "0" "" "" "g.227008328_227008330del" "" "" "" "0000150561" "0" "00" "2" "227873021" "227873021" "subst" "0" "00687" "COL4A4_000349" "g.227873021C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227008305C>T" "" "" "" "0000150562" "0" "00" "2" "227872995" "227872995" "subst" "0.557962" "00687" "COL4A4_000116" "g.227872995T>C" "" "Matonagel" "" "" "vormals bezeichnet als T1516C (TAT>TGT)" "Germline" "" "" "0" "" "" "g.227008279T>C" "" "" "" "0000150563" "0" "00" "2" "227872869" "227872869" "subst" "0.000370524" "00687" "COL4A4_000350" "g.227872869C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227008153C>T" "" "" "" "0000150564" "0" "00" "2" "227872846" "227872846" "subst" "0" "00687" "COL4A4_000351" "g.227872846C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227008130C>T" "" "" "" "0000150565" "0" "00" "2" "227872825" "227872825" "subst" "2.85256E-5" "00687" "COL4A4_000352" "g.227872825G>A" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227008109G>A" "" "" "" "0000150566" "0" "00" "2" "227872737" "227872765" "dup" "0" "00687" "COL4A4_000353" "g.227872737_227872765dup" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227008021_227008049dup" "" "" "" "0000150567" "0" "00" "2" "227872199" "227872199" "subst" "2.43918E-5" "00687" "COL4A4_000354" "g.227872199C>G" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227007483C>G" "" "" "" "0000150568" "0" "00" "2" "227872192" "227872192" "subst" "0" "00687" "COL4A4_000355" "g.227872192C>T" "" "Matonagel" "" "" "Auf dem selben Codon ist eine Nosensemutation beschrieben 9792860" "Germline" "" "" "0" "" "" "g.227007476C>T" "" "" "" "0000150569" "0" "00" "2" "227872192" "227872192" "subst" "0" "00687" "COL4A4_000355" "g.227872192C>T" "" "Matonagel" "" "" "At the same position a nonsense mutation has been described at the same codon position [9792860]" "Germline" "" "" "0" "" "" "g.227007476C>T" "" "" "" "0000150570" "0" "00" "2" "227872143" "227872143" "subst" "0" "00687" "COL4A4_000356" "g.227872143T>C" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227007427T>C" "" "" "" "0000150571" "0" "00" "2" "227872069" "227872069" "subst" "0.000125889" "00687" "COL4A4_000124" "g.227872069C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227007353C>T" "" "" "" "0000150572" "0" "00" "2" "227872066" "227872066" "subst" "8.12189E-6" "00687" "COL4A4_000357" "g.227872066C>T" "" "Matonagel" "" "" "" "Germline" "" "" "0" "" "" "g.227007350C>T" "" "" "" "0000150573" "0" "90" "2" "227915857" "227915857" "subst" "3.2505E-5" "01548" "COL4A4_000358" "g.227915857C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051141C>T" "" "pathogenic" "" "0000150574" "0" "90" "2" "227963516" "227963516" "subst" "0" "01548" "COL4A4_000359" "g.227963516T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227098800T>G" "" "pathogenic" "" "0000150575" "0" "90" "2" "227958839" "227958890" "del" "0" "01548" "COL4A4_000304" "g.227958839_227958890del" "" "" "" "1320_1369+2del" "" "Germline" "" "" "0" "" "" "g.227094123_227094174del" "" "pathogenic" "" "0000150576" "0" "97" "2" "228009242" "228009242" "subst" "0" "00687" "COL4A4_000005" "g.228009242T>C" "" "{PMID:Longo 2006:16338941}" "" "" "Compound heterozygous" "Germline" "" "" "0" "" "" "g.227144526T>C" "" "pathogenic" "" "0000150577" "0" "90" "2" "227886851" "227886851" "subst" "8.14425E-6" "00687" "COL4A4_000105" "g.227886851G>A" "" "{PMID:Boye 1998:09792860}" "" "" "Compound heterozygous" "Germline" "" "" "0" "" "" "g.227022135G>A" "" "pathogenic" "" "0000150578" "0" "53" "2" "227966184" "227966184" "subst" "0" "00687" "COL4A4_000026" "g.227966184T>G" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227101468T>G" "" "VUS" "" "0000150579" "0" "97" "2" "227958868" "227958868" "subst" "0" "00687" "COL4A4_000031" "g.227958868C>T" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227094152C>T" "" "pathogenic" "" "0000150580" "0" "13" "2" "227954599" "227954599" "subst" "0.540535" "00687" "COL4A4_000034" "g.227954599G>A" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227089883G>A" "" "benign" "" "0000150581" "0" "13" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "benign" "" "0000150582" "0" "13" "2" "227922321" "227922321" "subst" "0.0846316" "00687" "COL4A4_000056" "g.227922321A>G" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227057605A>G" "" "benign" "" "0000150583" "0" "50" "2" "227920747" "227920747" "subst" "0.00378434" "00687" "COL4A4_000060" "g.227920747C>T" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227056031C>T" "" "VUS" "" "0000150584" "0" "50" "2" "227917090" "227917090" "subst" "0.00705472" "00687" "COL4A4_000074" "g.227917090T>C" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227052374T>C" "" "VUS" "" "0000150585" "0" "13" "2" "227917064" "227917064" "subst" "0.000134019" "00687" "COL4A4_000076" "g.227917064C>T" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227052348C>T" "" "benign" "" "0000150586" "0" "13" "2" "227915832" "227915832" "subst" "0.520569" "00687" "COL4A4_000080" "g.227915832G>A" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227051116G>A" "" "benign" "" "0000150587" "0" "13" "2" "227896976" "227896976" "subst" "0.473076" "00687" "COL4A4_000092" "g.227896976C>T" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227032260C>T" "" "benign" "" "0000150588" "0" "13" "2" "227896886" "227896886" "subst" "0.474305" "00687" "COL4A4_000094" "g.227896886C>T" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227032170C>T" "" "benign" "" "0000150589" "0" "50" "2" "227896708" "227896708" "subst" "2.03264E-5" "00687" "COL4A4_000096" "g.227896708G>C" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227031992G>C" "" "VUS" "" "0000150590" "0" "13" "2" "227892720" "227892720" "subst" "0.470498" "00687" "COL4A4_000099" "g.227892720C>T" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227028004C>T" "" "benign" "" "0000150591" "0" "13" "2" "227892619" "227892619" "subst" "0.472301" "00687" "COL4A4_000100" "g.227892619C>T" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227027903C>T" "" "benign" "" "0000150592" "0" "53" "2" "227873028" "227873028" "subst" "0.4674" "00687" "COL4A4_000115" "g.227873028A>G" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227008312A>G" "" "VUS" "" "0000150593" "0" "13" "2" "227872995" "227872995" "subst" "0.557962" "00687" "COL4A4_000116" "g.227872995T>C" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227008279T>C" "" "benign" "" "0000150594" "0" "13" "2" "227872182" "227872182" "subst" "0.467875" "00687" "COL4A4_000122" "g.227872182G>A" "" "{PMID:Longo 2002:12028435}" "" "" "" "Germline" "" "" "0" "" "" "g.227007466G>A" "" "benign" "" "0000150595" "0" "13" "2" "227886773" "227886773" "subst" "0.477807" "00687" "COL4A4_000110" "g.227886773A>G" "" "{PMID:Ciccarese 2001:11572889}" "" "" "" "Germline" "" "" "0" "" "" "g.227022057A>G" "" "benign" "" "0000150596" "0" "90" "2" "227896924" "227896924" "del" "0" "00687" "COL4A4_000093" "g.227896924del" "" "{PMID:Boye 1998:09792860}" "" "c.3646/8delG" "Compound heterozygous" "Germline" "" "" "0" "" "" "g.227032208del" "" "pathogenic" "" "0000150597" "0" "13" "2" "227954599" "227954599" "subst" "0.540535" "00687" "COL4A4_000034" "g.227954599G>A" "" "(PMID:Longo 2006:16338941}" "" "" "" "Germline" "" "" "0" "" "" "g.227089883G>A" "" "benign" "" "0000150598" "0" "97" "2" "227942611" "227942611" "subst" "0" "00687" "COL4A4_000047" "g.227942611T>C" "" "(PMID:Longo 2006:16338941}" "" "" "" "Germline" "" "" "0" "" "" "g.227077895T>C" "" "pathogenic" "" "0000150599" "0" "13" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "{PMID:Boye 1998:09792860}" "" "" "Compound heterozygous" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "benign" "" "0000150600" "0" "90" "2" "227872191" "227872191" "subst" "0" "00687" "COL4A4_000121" "g.227872191G>T" "" "{PMID:Boye 1998:09792860}" "" "" "Compound heterozygous" "Germline" "" "" "0" "" "" "g.227007475G>T" "" "pathogenic" "" "0000150601" "2" "97" "2" "227942657" "227942674" "del" "0" "00687" "COL4A4_000045" "g.227942657_227942674del" "" "{PMID:Gross 2003:12748344}" "" "1935_1952delAGTTCCAGGCCACCCAGG" "NOTE: the observed cDNA deletion might be a rare splice product remaining from a variant usually inducing complete skipping of exon 25" "Germline" "yes" "" "0" "" "" "g.227077941_227077958del" "" "pathogenic" "" "0000150602" "0" "97" "2" "227920687" "227920687" "subst" "0" "00687" "COL4A4_000064" "g.227920687C>T" "" "{PMID:Lemmink 1996:08787673}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.227055971C>T" "" "pathogenic" "" "0000150603" "20" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00466" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000150604" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00466" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000150605" "20" "70" "2" "227953394" "227953394" "subst" "0" "00466" "COL4A4_000265" "g.227953394C>T" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227088678C>T" "" "likely pathogenic" "" "0000150606" "20" "70" "2" "227953394" "227953394" "subst" "0" "00466" "COL4A4_000265" "g.227953394C>T" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227088678C>T" "" "likely pathogenic" "" "0000150607" "20" "90" "2" "227945161" "227945161" "del" "0" "00466" "COL4A4_000041" "g.227945161del" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227080445del" "" "pathogenic" "" "0000150608" "21" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00466" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000150609" "20" "90" "2" "227920742" "227920742" "del" "0" "00466" "COL4A4_000061" "g.227920742del" "" "{PMID:Storey 2013:24052634}" "" "c.2635_2638delG" "" "Germline" "" "" "0" "" "" "g.227056026del" "" "pathogenic" "" "0000150610" "21" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00466" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000150611" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00466" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000150612" "21" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00466" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000150613" "1" "70" "2" "227875175" "227875175" "subst" "4.17516E-6" "00466" "COL4A4_000273" "g.227875175C>A" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227010459C>A" "" "likely pathogenic" "" "0000150614" "11" "70" "2" "227875029" "227875029" "subst" "4.06095E-6" "00466" "COL4A4_000275" "g.227875029C>T" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227010313C>T" "" "likely pathogenic" "" "0000150615" "0" "90" "2" "227875111" "227875111" "dup" "0" "00466" "COL4A4_000276" "g.227875111dup" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227010395dup" "" "pathogenic" "" "0000150616" "21" "90" "2" "227872755" "227872755" "subst" "4.10283E-6" "00466" "COL4A4_000278" "g.227872755C>T" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227008039C>T" "" "pathogenic" "" "0000150617" "0" "90" "2" "227920742" "227920742" "del" "0" "00466" "COL4A4_000061" "g.227920742del" "" "{PMID:Storey 2013:24052634}" "" "c.2635_2638delG" "" "Germline" "" "" "0" "" "" "g.227056026del" "" "pathogenic" "" "0000150618" "0" "90" "2" "227917105" "227917105" "subst" "0" "00466" "COL4A4_000280" "g.227917105C>A" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227052389C>A" "" "pathogenic" "" "0000150619" "0" "90" "2" "227919427" "227919427" "del" "0" "00466" "COL4A4_000067" "g.227919427del" "" "{PMID:Storey 2013:24052634}" "" "" "" "Germline" "" "" "0" "" "" "g.227054711del" "" "pathogenic" "" "0000169240" "0" "70" "2" "227924184" "227924184" "subst" "7.31012E-5" "00587" "COL4A4_000052" "g.227924184C>G" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000092.4(COL4A4):c.2320G>C p.(Gly774Arg)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.227059468C>G" "" "likely pathogenic" "" "0000169389" "0" "70" "2" "227875157" "227875157" "subst" "7.34634E-5" "00587" "COL4A4_000344" "g.227875157C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000092.4(COL4A4):c.4394G>A p.(Gly1465Asp)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.227010441C>T" "" "likely pathogenic" "" "0000251005" "0" "10" "2" "227958887" "227958887" "subst" "0.0038205" "02326" "COL4A4_000217" "g.227958887A>G" "" "" "" "COL4A4(NM_000092.4):c.1323T>C (p.P441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227094171A>G" "" "benign" "" "0000251006" "0" "10" "2" "227966608" "227966608" "subst" "0.00652384" "02326" "COL4A4_000216" "g.227966608A>G" "" "" "" "COL4A4(NM_000092.4):c.948T>C (p.Y316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227101892A>G" "" "benign" "" "0000251276" "0" "10" "2" "227887334" "227887334" "subst" "0" "02326" "COL4A4_000365" "g.227887334A>T" "" "" "" "COL4A4(NM_000092.4):c.4091-445T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227022618A>T" "" "benign" "" "0000251277" "0" "10" "2" "227895359" "227895359" "subst" "0.0120739" "02326" "COL4A4_000366" "g.227895359A>T" "" "" "" "COL4A4(NM_000092.4):c.3818-45T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227030643A>T" "" "benign" "" "0000251278" "0" "10" "2" "227924354" "227924354" "subst" "0.0065181" "02326" "COL4A4_000371" "g.227924354A>C" "" "" "" "COL4A4(NM_000092.4):c.2165-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227059638A>C" "" "benign" "" "0000251279" "0" "10" "2" "227967841" "227967841" "del" "0" "02326" "COL4A4_000381" "g.227967841del" "" "" "" "COL4A4(NM_000092.4):c.870+29delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227103125del" "" "benign" "" "0000251281" "0" "10" "2" "227976331" "227976331" "subst" "0" "02326" "COL4A4_000386" "g.227976331A>G" "" "" "" "COL4A4(NM_000092.4):c.594+63T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227111615A>G" "" "benign" "" "0000251282" "0" "10" "2" "227979484" "227979484" "subst" "0" "02326" "COL4A4_000389" "g.227979484A>T" "" "" "" "COL4A4(NM_000092.4):c.490-72T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227114768A>T" "" "benign" "" "0000266983" "0" "10" "2" "227915832" "227915832" "subst" "0.520569" "02325" "COL4A4_000080" "g.227915832G>A" "" "" "" "COL4A4(NM_000092.5):c.3011C>T (p.P1004L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227051116G>A" "" "benign" "" "0000266984" "0" "10" "2" "227872995" "227872995" "subst" "0.557962" "02325" "COL4A4_000116" "g.227872995T>C" "" "" "" "COL4A4(NM_000092.5):c.4548A>G (p.V1516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227008279T>C" "" "benign" "" "0000268373" "0" "90" "2" "227912190" "227912190" "subst" "0" "02329" "COL4A4_000368" "g.227912190C>A" "" "" "" "COL4A4(NM_000092.4):c.3289+1G>T, COL4A4(NM_000092.5):c.3289+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227047474C>A" "" "pathogenic" "" "0000270409" "0" "10" "2" "228012278" "228012278" "subst" "0" "02326" "COL4A4_000391" "g.228012278G>A" "" "" "" "COL4A4(NM_000092.4):c.-79C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227147562G>A" "" "benign" "" "0000270410" "0" "10" "2" "227953665" "227953665" "subst" "0" "02326" "COL4A4_000379" "g.227953665G>A" "" "" "" "COL4A4(NM_000092.4):c.1460-133C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227088949G>A" "" "benign" "" "0000270411" "0" "10" "2" "227942776" "227942776" "subst" "0.00311845" "02326" "COL4A4_000221" "g.227942776C>T" "" "" "" "COL4A4(NM_000092.4):c.1821G>A (p.A607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227078060C>T" "" "benign" "" "0000270412" "0" "10" "2" "227927294" "227927294" "subst" "0.00391152" "02326" "COL4A4_000222" "g.227927294C>T" "" "" "" "COL4A4(NM_000092.4):c.2008G>A (p.V670I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227062578C>T" "" "benign" "" "0000270413" "0" "70" "2" "227927264" "227927264" "subst" "0" "02326" "COL4A4_000378" "g.227927264C>G" "" "" "" "COL4A4(NM_000092.4):c.2038G>C (p.G680R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227062548C>G" "" "likely pathogenic" "" "0000270414" "0" "10" "2" "227927202" "227927202" "del" "0" "02326" "COL4A4_000377" "g.227927202del" "" "" "" "COL4A4(NM_000092.4):c.2056+56delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227062486del" "" "benign" "" "0000270415" "0" "10" "2" "227924733" "227924733" "subst" "0" "02326" "COL4A4_000372" "g.227924733T>C" "" "" "" "COL4A4(NM_000092.4):c.2164+119A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227060017T>C" "" "benign" "" "0000270416" "0" "10" "2" "227924837" "227924841" "dup" "0" "02326" "COL4A4_000375" "g.227924837_227924841dup" "" "" "" "COL4A4(NM_000092.4):c.2164+28_2164+32dupTTTTT, COL4A4(NM_000092.4):c.2164+30_2164+34dupTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227060121_227060125dup" "" "benign" "" "0000270418" "0" "10" "2" "227924832" "227924841" "dup" "0" "02326" "COL4A4_000374" "g.227924832_227924841dup" "" "" "" "COL4A4(NM_000092.4):c.2164+24_2164+33dupTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227060116_227060125dup" "" "benign" "" "0000270420" "0" "10" "2" "227924228" "227924228" "subst" "0.00653454" "02326" "COL4A4_000225" "g.227924228G>A" "" "" "" "COL4A4(NM_000092.4):c.2276C>T (p.P759L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227059512G>A" "" "benign" "" "0000270421" "0" "10" "2" "227922261" "227922261" "subst" "0.0038911" "02326" "COL4A4_000226" "g.227922261T>A" "" "" "" "COL4A4(NM_000092.4):c.2439A>T (p.G813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227057545T>A" "" "benign" "" "0000270422" "0" "90" "2" "227920687" "227920687" "subst" "0" "02326" "COL4A4_000064" "g.227920687C>T" "" "" "" "COL4A4(NM_000092.4):c.2690G>A (p.G897E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227055971C>T" "" "pathogenic" "" "0000270423" "0" "10" "2" "227920519" "227920519" "subst" "0" "02326" "COL4A4_000369" "g.227920519G>C" "" "" "" "COL4A4(NM_000092.4):c.2716+142C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227055803G>C" "" "benign" "" "0000270424" "0" "10" "2" "227919458" "227919458" "subst" "0.0113831" "02326" "COL4A4_000065" "g.227919458T>A" "" "" "" "COL4A4(NM_000092.4):c.2717-5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227054742T>A" "" "benign" "" "0000270425" "0" "10" "2" "227917090" "227917090" "subst" "0.00705472" "02326" "COL4A4_000074" "g.227917090T>C" "" "" "" "COL4A4(NM_000092.4):c.2899A>G (p.(Ile967Val), p.I967V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227052374T>C" "" "benign" "" "0000270426" "0" "10" "2" "227906883" "227906883" "subst" "0.0040474" "02326" "COL4A4_000234" "g.227906883T>C" "" "" "" "COL4A4(NM_000092.4):c.3486A>G (p.P1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227042167T>C" "" "benign" "" "0000270427" "0" "70" "2" "227898171" "227898171" "subst" "9.36101E-5" "02326" "COL4A4_000367" "g.227898171C>T" "" "" "" "COL4A4(NM_000092.4):c.3532G>A (p.G1178S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227033455C>T" "" "likely pathogenic" "" "0000270428" "0" "10" "2" "227892720" "227892720" "subst" "0.470498" "02326" "COL4A4_000099" "g.227892720C>T" "" "" "" "COL4A4(NM_000092.4):c.3979G>A (p.V1327M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227028004C>T" "" "benign" "" "0000270429" "0" "10" "2" "227872887" "227872887" "subst" "0.00321113" "02326" "COL4A4_000244" "g.227872887C>T" "" "" "" "COL4A4(NM_000092.4):c.4656G>A (p.M1552I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227008171C>T" "" "benign" "" "0000270430" "0" "10" "2" "227872865" "227872865" "subst" "6.92075E-5" "02326" "COL4A4_000364" "g.227872865G>A" "" "" "" "COL4A4(NM_000092.4):c.4678C>T (p.R1560C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227008149G>A" "" "benign" "" "0000270431" "0" "10" "2" "227976584" "227976584" "subst" "0" "02326" "COL4A4_000388" "g.227976584G>A" "" "" "" "COL4A4(NM_000092.4):c.559-155C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227111868G>A" "" "benign" "" "0000270432" "0" "10" "2" "227976450" "227976450" "subst" "0.0124634" "02326" "COL4A4_000387" "g.227976450T>C" "" "" "" "COL4A4(NM_000092.4):c.559-21A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227111734T>C" "" "benign" "" "0000270433" "0" "10" "2" "227976298" "227976298" "subst" "0" "02326" "COL4A4_000385" "g.227976298G>A" "" "" "" "COL4A4(NM_000092.4):c.594+96C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227111582G>A" "" "benign" "" "0000270434" "0" "10" "2" "227968837" "227968837" "subst" "0" "02326" "COL4A4_000383" "g.227968837T>A" "" "" "" "COL4A4(NM_000092.4):c.736-69A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227104121T>A" "" "benign" "" "0000274190" "0" "50" "2" "228012304" "228012304" "subst" "0" "01943" "COL4A4_000392" "g.228012304T>C" "" "" "" "COL4A4(NM_000092.4):c.-101-4A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227147588T>C" "" "VUS" "" "0000274191" "0" "30" "2" "228009244" "228009244" "subst" "0.00195184" "01943" "COL4A4_000004" "g.228009244T>C" "" "" "" "COL4A4(NM_000092.4):c.102A>G (p.Q34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227144528T>C" "" "likely benign" "" "0000274192" "0" "50" "2" "228004953" "228004953" "subst" "0" "01943" "COL4A4_000390" "g.228004953C>T" "" "" "" "COL4A4(NM_000092.4):c.116G>A (p.S39N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227140237C>T" "" "VUS" "" "0000274193" "0" "30" "2" "227959014" "227959014" "subst" "0.000381861" "01943" "COL4A4_000380" "g.227959014T>C" "" "" "" "COL4A4(NM_000092.4):c.1205-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227094298T>C" "" "likely benign" "" "0000274194" "0" "50" "2" "227942778" "227942778" "subst" "0.000277223" "01943" "COL4A4_000220" "g.227942778C>T" "" "" "" "COL4A4(NM_000092.4):c.1819G>A (p.A607T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227078062C>T" "" "VUS" "" "0000274195" "0" "50" "2" "227924855" "227924855" "subst" "9.75262E-5" "01943" "COL4A4_000376" "g.227924855G>A" "" "" "" "COL4A4(NM_000092.4):c.2161C>T (p.P721S), COL4A4(NM_000092.5):c.2161C>T (p.(Pro721Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227060139G>A" "" "VUS" "" "0000274196" "0" "30" "2" "227920788" "227920788" "subst" "5.68916E-5" "01943" "COL4A4_000370" "g.227920788G>A" "" "" "" "COL4A4(NM_000092.4):c.2589C>T (p.P863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227056072G>A" "" "likely benign" "" "0000274197" "0" "30" "2" "227919458" "227919458" "subst" "0.0113831" "01943" "COL4A4_000065" "g.227919458T>A" "" "" "" "COL4A4(NM_000092.4):c.2717-5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227054742T>A" "" "likely benign" "" "0000274198" "0" "30" "2" "227872812" "227872812" "subst" "0.00213442" "01943" "COL4A4_000118" "g.227872812C>T" "" "" "" "COL4A4(NM_000092.4):c.4731G>A (p.A1577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227008096C>T" "" "likely benign" "" "0000274199" "0" "30" "2" "227872254" "227872254" "subst" "0" "01943" "COL4A4_000363" "g.227872254G>C" "" "" "" "COL4A4(NM_000092.4):c.4860C>G (p.G1620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227007538G>C" "" "likely benign" "" "0000274200" "0" "50" "2" "227973562" "227973562" "subst" "8.24165E-5" "01943" "COL4A4_000384" "g.227973562C>T" "" "" "" "COL4A4(NM_000092.4):c.680G>A (p.R227H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227108846C>T" "" "VUS" "" "0000342317" "0" "50" "2" "227973562" "227973562" "subst" "8.24165E-5" "02327" "COL4A4_000384" "g.227973562C>T" "" "" "" "COL4A4(NM_000092.4):c.680G>A (p.R227H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227108846C>T" "" "VUS" "" "0000345662" "0" "70" "2" "227898171" "227898171" "subst" "9.36101E-5" "02327" "COL4A4_000367" "g.227898171C>T" "" "" "" "COL4A4(NM_000092.4):c.3532G>A (p.G1178S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227033455C>T" "" "likely pathogenic" "" "0000345671" "0" "70" "2" "227896864" "227896864" "subst" "0" "02327" "COL4A4_000394" "g.227896864C>T" "" "" "" "COL4A4(NM_000092.4):c.3706G>A (p.G1236R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227032148C>T" "" "likely pathogenic" "" "0000345724" "0" "90" "2" "227876915" "227876919" "dup" "0" "02327" "COL4A4_000393" "g.227876915_227876919dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227012199_227012203dup" "" "pathogenic" "" "0000345786" "0" "50" "2" "227979393" "227979393" "subst" "0" "02327" "COL4A4_000398" "g.227979393C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227114677C>T" "" "VUS" "" "0000346121" "0" "70" "2" "227953492" "227953492" "dup" "0" "02327" "COL4A4_000397" "g.227953492dup" "" "" "" "COL4A4(NM_000092.4):c.1505dupC (p.G503Wfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227088776dup" "" "likely pathogenic" "" "0000346301" "0" "50" "2" "227920814" "227920814" "subst" "0" "02327" "COL4A4_000396" "g.227920814C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227056098C>T" "" "VUS" "" "0000346316" "0" "90" "2" "227920687" "227920687" "subst" "0" "02327" "COL4A4_000064" "g.227920687C>T" "" "" "" "COL4A4(NM_000092.4):c.2690G>A (p.G897E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227055971C>T" "" "pathogenic" "" "0000346330" "0" "90" "2" "227919337" "227919337" "subst" "0" "02327" "COL4A4_000395" "g.227919337C>A" "" "" "" "COL4A4(NM_000092.4):c.2833G>T (p.G945*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.227054621C>A" "" "pathogenic" "" "0000352767" "20" "90" "2" "227896744" "227896744" "subst" "4.06312E-6" "02367" "COL4A4_000399" "g.227896744C>A" "" "" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "?" "" "0" "" "" "g.227032032C>A" "" "pathogenic" "" "0000352769" "0" "90" "2" "227922281" "227922281" "subst" "0" "02367" "COL4A4_000400" "g.227922281C>G" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.227057565C>G" "" "pathogenic" "" "0000352805" "0" "90" "2" "227898189" "227898189" "subst" "0" "02367" "COL4A4_000402" "g.227898189C>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.227033473C>A" "" "pathogenic" "" "0000352806" "0" "50" "2" "227898186" "227898187" "ins" "0" "02367" "COL4A4_000401" "g.227898186_227898187insTTT" "" "" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "?" "" "0" "" "" "g.227033477_227033478insTTT" "" "VUS" "" "0000353019" "0" "90" "2" "227945172" "227945172" "del" "0" "02367" "COL4A4_000403" "g.227945172del" "" "" "" "1790delA" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline/De novo (untested)" "?" "" "0" "" "" "g.227080458del" "" "pathogenic" "" "0000353667" "21" "90" "2" "227886844" "227886844" "del" "0" "02367" "COL4A4_000404" "g.227886844del" "" "" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.227022140del" "" "pathogenic" "" "0000353668" "21" "90" "2" "227942735" "227942735" "dup" "0" "02367" "COL4A4_000407" "g.227942735dup" "" "" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.227942745dup" "" "pathogenic" "" "0000353670" "0" "90" "2" "227919337" "227919337" "subst" "0" "02367" "COL4A4_000406" "g.227919337C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.227054621C>T" "" "pathogenic" "" "0000353671" "0" "70" "2" "227872069" "227872069" "subst" "0.000125889" "02367" "COL4A4_000124" "g.227872069C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.227007353C>T" "" "likely pathogenic" "" "0000353672" "10" "90" "2" "227896771" "227896771" "subst" "0" "02367" "COL4A4_000405" "g.227896771C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.227032055C>T" "" "pathogenic" "" "0000353745" "0" "70" "2" "228009262" "228009267" "del" "0" "00687" "COL4A4_000264" "g.228009262_228009267del" "" "" "" "81_86delACTCAT" "" "Germline" "" "" "0" "" "" "g.227144546_227144551del" "" "likely pathogenic" "" "0000353752" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353754" "1" "50" "2" "227914832" "227914832" "subst" "0" "00687" "COL4A4_000459" "g.227914832G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227050116G>C" "" "VUS" "" "0000353758" "0" "70" "2" "227873005" "227873005" "subst" "0" "00687" "COL4A4_000269" "g.227873005C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227008289C>T" "" "likely pathogenic" "" "0000353764" "1" "70" "2" "227872070" "227872070" "subst" "1.21831E-5" "00687" "COL4A4_000425" "g.227872070G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227007354G>A" "" "likely pathogenic" "" "0000353765" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000353766" "0" "70" "2" "227942618" "227942618" "subst" "0" "00687" "COL4A4_000488" "g.227942618C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227077902C>T" "" "likely pathogenic" "" "0000353768" "1" "50" "2" "227968750" "227968750" "subst" "0" "00687" "COL4A4_000523" "g.227968750C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227104034C>T" "" "VUS" "" "0000353770" "0" "70" "2" "227953394" "227953394" "subst" "0" "00687" "COL4A4_000265" "g.227953394C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227088678C>T" "" "likely pathogenic" "" "0000353771" "0" "70" "2" "227872783" "227872783" "subst" "0.00203687" "00687" "COL4A4_000430" "g.227872783G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227008067G>C" "" "likely pathogenic" "" "0000353773" "3" "70" "2" "227942618" "227942618" "subst" "0" "00687" "COL4A4_000488" "g.227942618C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227077902C>T" "" "likely pathogenic" "" "0000353774" "1" "90" "2" "227922163" "227922171" "delins" "0" "00687" "COL4A4_000474" "g.227922163_227922171delinsAT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227057447_227057455delinsAT" "" "pathogenic" "" "0000353775" "0" "90" "2" "227898198" "227898198" "subst" "0" "00687" "COL4A4_000454" "g.227898198C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227033482C>G" "" "pathogenic" "" "0000353783" "1" "70" "2" "228009262" "228009267" "del" "0" "00687" "COL4A4_000264" "g.228009262_228009267del" "" "" "" "81_86delACTCAT" "" "Germline" "" "" "0" "" "" "g.227144546_227144551del" "" "likely pathogenic" "" "0000353794" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000353799" "0" "70" "2" "227875029" "227875029" "subst" "4.06095E-6" "00687" "COL4A4_000275" "g.227875029C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227010313C>T" "" "likely pathogenic" "" "0000353805" "0" "70" "2" "228009262" "228009267" "del" "0" "00687" "COL4A4_000264" "g.228009262_228009267del" "" "" "" "81_86delACTCAT" "" "Germline" "" "" "0" "" "" "g.227144546_227144551del" "" "likely pathogenic" "" "0000353806" "1" "90" "2" "227973339" "227973339" "subst" "0" "00687" "COL4A4_000525" "g.227973339C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227108623C>G" "" "pathogenic" "" "0000353808" "1" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000353819" "0" "90" "2" "227895218" "227895219" "delins" "0" "00687" "COL4A4_000338" "g.227895218_227895219delinsC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227030502_227030503delinsC" "" "pathogenic" "" "0000353821" "0" "90" "2" "227922231" "227922238" "delins" "0" "00687" "COL4A4_000475" "g.227922231_227922238delinsAAT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227057515_227057522delinsAAT" "" "pathogenic" "" "0000353822" "0" "90" "2" "227898198" "227898198" "subst" "0" "00687" "COL4A4_000454" "g.227898198C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227033482C>G" "" "pathogenic" "" "0000353823" "1" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353824" "0" "70" "2" "227927263" "227927263" "subst" "0" "00687" "COL4A4_000486" "g.227927263C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227062547C>T" "" "likely pathogenic" "" "0000353827" "0" "50" "2" "227875240" "227875240" "subst" "0" "00687" "COL4A4_000113" "g.227875240T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227010524T>C" "" "VUS" "" "0000353830" "0" "50" "2" "228009228" "228009230" "dup" "0" "00687" "COL4A4_000538" "g.228009228_228009230dup" "" "" "" "114+2_114+4dupTAA" "" "Germline" "" "" "0" "" "" "g.227144512_227144514dup" "" "VUS" "" "0000353838" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000353839" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353840" "0" "50" "2" "227942778" "227942778" "subst" "0.000277223" "00687" "COL4A4_000220" "g.227942778C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227078062C>T" "" "VUS" "" "0000353843" "1" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353846" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353849" "0" "70" "2" "227875029" "227875029" "subst" "4.06095E-6" "00687" "COL4A4_000275" "g.227875029C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227010313C>T" "" "likely pathogenic" "" "0000353857" "0" "70" "2" "227963496" "227963496" "subst" "8.16993E-6" "00687" "COL4A4_000510" "g.227963496C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227098780C>T" "" "likely pathogenic" "" "0000353860" "0" "70" "2" "227872828" "227872828" "subst" "0.000142693" "00687" "COL4A4_000117" "g.227872828G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227008112G>A" "" "likely pathogenic" "" "0000353862" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353863" "0" "50" "2" "228009228" "228009230" "dup" "0" "00687" "COL4A4_000538" "g.228009228_228009230dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227144512_227144514dup" "" "VUS" "" "0000353873" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000353875" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000353877" "3" "70" "2" "227920729" "227920755" "dup" "0" "00687" "COL4A4_000470" "g.227920729_227920755dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227056013_227056039dup" "" "likely pathogenic" "" "0000353878" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353881" "0" "90" "2" "227920742" "227920742" "del" "0" "00687" "COL4A4_000471" "g.227920742del" "" "" "" "2638delG" "" "Germline" "" "" "0" "" "" "g.227056026del" "" "pathogenic" "" "0000353885" "0" "70" "2" "227912265" "227912265" "subst" "0" "00687" "COL4A4_000268" "g.227912265C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227047549C>A" "" "likely pathogenic" "" "0000353887" "1" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353891" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353893" "0" "70" "2" "227912256" "227912256" "subst" "0" "00687" "COL4A4_000457" "g.227912256C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227047540C>T" "" "likely pathogenic" "" "0000353894" "1" "90" "2" "228009254" "228009255" "del" "0" "00687" "COL4A4_000540" "g.228009254_228009255del" "" "" "" "93_94delTT" "" "Germline" "" "" "0" "" "" "g.227144538_227144539del" "" "pathogenic" "" "0000353896" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353897" "0" "70" "2" "227872783" "227872783" "subst" "0.00203687" "00687" "COL4A4_000430" "g.227872783G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227008067G>C" "" "likely pathogenic" "" "0000353898" "0" "90" "2" "227872907" "227872907" "dup" "0" "00687" "COL4A4_000435" "g.227872907dup" "" "" "" "4636dupG" "" "Germline" "" "" "0" "" "" "g.227008191dup" "" "pathogenic" "" "0000353904" "0" "50" "2" "227917138" "227917138" "subst" "0" "00687" "COL4A4_000465" "g.227917138T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052422T>C" "" "VUS" "" "0000353905" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000353906" "0" "90" "2" "227919309" "227922317" "del" "0" "00687" "COL4A4_000409" "g.(227917129_227919309)_(227922317_227924120)del" "" "" "" "dup ex29-31" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000353908" "0" "70" "2" "227953394" "227953394" "subst" "0" "00687" "COL4A4_000265" "g.227953394C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227088678C>T" "" "likely pathogenic" "" "0000353911" "0" "90" "2" "227967510" "227967510" "del" "0" "00687" "COL4A4_000519" "g.227967510del" "" "" "" "926delC" "" "Germline" "" "" "0" "" "" "g.227102794del" "" "pathogenic" "" "0000353916" "0" "70" "2" "227983369" "227983369" "subst" "8.13484E-6" "00687" "COL4A4_000531" "g.227983369C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227118653C>G" "" "likely pathogenic" "" "0000353921" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353923" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000353925" "0" "70" "2" "227873005" "227873005" "subst" "0" "00687" "COL4A4_000269" "g.227873005C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227008289C>T" "" "likely pathogenic" "" "0000353929" "0" "70" "2" "227919436" "227919436" "subst" "0" "00687" "COL4A4_000324" "g.227919436C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227054720C>G" "" "likely pathogenic" "" "0000353933" "0" "50" "2" "227886886" "227886886" "subst" "4.087E-6" "00687" "COL4A4_000442" "g.227886886T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227022170T>C" "" "VUS" "" "0000353939" "1" "90" "2" "227920742" "227920742" "del" "0" "00687" "COL4A4_000471" "g.227920742del" "" "" "" "2638delG" "" "Germline" "" "" "0" "" "" "g.227056026del" "" "pathogenic" "" "0000353943" "0" "70" "2" "227954638" "227954638" "subst" "0" "00687" "COL4A4_000503" "g.227954638C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227089922C>T" "" "likely pathogenic" "" "0000353947" "0" "90" "2" "227966274" "227966274" "subst" "1.23679E-5" "00687" "COL4A4_000516" "g.227966274C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227101558C>G" "" "pathogenic" "" "0000353948" "0" "70" "2" "227942645" "227942645" "subst" "0" "00687" "COL4A4_000490" "g.227942645C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227077929C>T" "" "likely pathogenic" "" "0000353949" "0" "70" "2" "227963496" "227963496" "subst" "8.16993E-6" "00687" "COL4A4_000510" "g.227963496C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227098780C>T" "" "likely pathogenic" "" "0000353950" "0" "70" "2" "227963514" "227963514" "subst" "0" "00687" "COL4A4_000512" "g.227963514C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227098798C>A" "" "likely pathogenic" "" "0000353952" "0" "50" "2" "228012124" "228012124" "subst" "0" "00687" "COL4A4_000542" "g.228012124C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227147408C>G" "" "VUS" "" "0000353958" "0" "70" "2" "227966616" "227966616" "subst" "0" "00687" "COL4A4_000024" "g.227966616C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227101900C>A" "" "likely pathogenic" "" "0000353959" "1" "50" "2" "227912248" "227912248" "subst" "0.00142051" "00687" "COL4A4_000231" "g.227912248C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227047532C>T" "" "VUS" "" "0000353961" "0" "90" "2" "227920742" "227920742" "del" "0" "00687" "COL4A4_000471" "g.227920742del" "" "" "" "2638delG" "" "Germline" "" "" "0" "" "" "g.227056026del" "" "pathogenic" "" "0000353969" "0" "70" "2" "227963496" "227963496" "subst" "8.16993E-6" "00687" "COL4A4_000510" "g.227963496C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227098780C>T" "" "likely pathogenic" "" "0000353970" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353971" "0" "70" "2" "227875029" "227875029" "subst" "4.06095E-6" "00687" "COL4A4_000275" "g.227875029C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227010313C>T" "" "likely pathogenic" "" "0000353973" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353974" "0" "70" "2" "227953394" "227953394" "subst" "0" "00687" "COL4A4_000265" "g.227953394C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227088678C>T" "" "likely pathogenic" "" "0000353975" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353980" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000353981" "0" "50" "2" "227896658" "227896658" "del" "0" "00687" "COL4A4_000447" "g.227896658del" "" "" "" "3817+3delA" "" "Germline" "" "" "0" "" "" "g.227031942del" "" "VUS" "" "0000353982" "1" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000353990" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000353991" "0" "90" "2" "227920742" "227920742" "del" "0" "00687" "COL4A4_000471" "g.227920742del" "" "" "" "2638delG" "" "Germline" "" "" "0" "" "" "g.227056026del" "" "pathogenic" "" "0000353996" "3" "90" "2" "227958839" "227958890" "del" "0" "00687" "COL4A4_000304" "g.227958839_227958890del" "" "" "" "1321_1369+3del52" "" "Germline" "" "" "0" "" "" "g.227094123_227094174del" "" "pathogenic" "" "0000353997" "0" "70" "2" "227953394" "227953394" "subst" "0" "00687" "COL4A4_000265" "g.227953394C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227088678C>T" "" "likely pathogenic" "" "0000353998" "0" "90" "2" "227920742" "227920742" "del" "0" "00687" "COL4A4_000471" "g.227920742del" "" "" "" "2638delG" "" "Germline" "" "" "0" "" "" "g.227056026del" "" "pathogenic" "" "0000354005" "0" "70" "2" "227983440" "227983440" "subst" "4.07183E-6" "00687" "COL4A4_000534" "g.227983440C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227118724C>T" "" "likely pathogenic" "" "0000354010" "1" "70" "2" "227946875" "227946875" "subst" "0" "00687" "COL4A4_000497" "g.227946875C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227082159C>T" "" "likely pathogenic" "" "0000354014" "0" "90" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "pathogenic" "" "0000354015" "0" "70" "2" "227958874" "227958891" "del" "0" "00687" "COL4A4_000030" "g.227958874_227958891del" "" "" "" "1323_1340delTGGCTTGCCTGGAGCACC" "" "Germline" "" "" "0" "" "" "g.227094158_227094175del" "" "likely pathogenic" "" "0000354018" "1" "90" "2" "227914783" "227917129" "del" "0" "00687" "COL4A4_000412" "g.(227912266_227914783)_(227917129_227919309)del" "" "" "" "ex32-34 del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000354019" "1" "70" "2" "227872783" "227872783" "subst" "0.00203687" "00687" "COL4A4_000430" "g.227872783G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227008067G>C" "" "likely pathogenic" "" "0000354023" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000354024" "0" "50" "2" "227942643" "227942643" "subst" "0" "00687" "COL4A4_000489" "g.227942643C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227077927C>T" "" "VUS" "" "0000354026" "0" "50" "2" "227895261" "227895261" "subst" "0.00165023" "00687" "COL4A4_000236" "g.227895261G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227030545G>C" "" "VUS" "" "0000354193" "11" "90" "2" "228004876" "228029530" "del" "0" "00687" "COL4A4_000408" "g.(227985865_228004876)_(228029530_228102683)del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "del ex1 COL4A3, ex1-4 COL4A4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000354195" "0" "70" "2" "228009231" "228009231" "subst" "0" "00687" "COL4A4_000411" "g.228009231C>G" "" "{PMID:Rosado 2014:25755845}" "" "IVS3+1G>C" "" "Germline" "" "" "0" "" "" "g.227144515C>G" "" "likely pathogenic" "" "0000354196" "0" "00" "2" "228009262" "228009267" "del" "0" "00687" "COL4A4_000264" "g.228009262_228009267del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227144546_227144551del" "" "VUS" "" "0000354197" "0" "00" "2" "228009262" "228009267" "del" "0" "00687" "COL4A4_000264" "g.228009262_228009267del" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "81_86delACTCAT" "" "Germline" "" "" "0" "" "" "g.227144546_227144551del" "" "VUS" "" "0000354198" "0" "90" "2" "228009262" "228009267" "del" "0" "00687" "COL4A4_000264" "g.228009262_228009267del" "" "" "" "81_86delACTCAT" "" "Germline" "" "" "0" "" "" "g.227144546_227144551del" "" "pathogenic" "" "0000354199" "0" "00" "2" "228009232" "228009232" "subst" "0" "00687" "COL4A4_000539" "g.228009232C>T" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227144516C>T" "" "VUS" "" "0000354200" "0" "90" "2" "228004875" "228004875" "subst" "0" "00687" "COL4A4_000537" "g.228004875A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227140159A>G" "" "pathogenic" "" "0000354201" "0" "00" "2" "227985840" "227985840" "subst" "0" "00687" "COL4A4_000536" "g.227985840G>A" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.227121124G>A" "" "VUS" "" "0000354202" "0" "00" "2" "227985747" "227985747" "del" "0" "00687" "COL4A4_000535" "g.227985747del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "313delG" "" "Germline" "" "" "0" "" "" "g.227121031del" "" "VUS" "" "0000354203" "0" "00" "2" "227983440" "227983440" "subst" "4.07183E-6" "00687" "COL4A4_000534" "g.227983440C>T" "" "{PMID:Malone 2014:25229338}, {DOI:Malone 2014:10.1038/ki.2014.305}" "" "" "" "Germline" "" "" "0" "" "" "g.227118724C>T" "" "VUS" "" "0000354204" "0" "00" "2" "227983404" "227983404" "subst" "4.06686E-6" "00687" "COL4A4_000533" "g.227983404C>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227118688C>T" "" "VUS" "" "0000354205" "0" "00" "2" "227983404" "227983404" "subst" "4.06686E-6" "00687" "COL4A4_000533" "g.227983404C>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227118688C>T" "" "VUS" "" "0000354206" "0" "00" "2" "227983395" "227983395" "subst" "0" "00687" "COL4A4_000532" "g.227983395C>T" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227118679C>T" "" "VUS" "" "0000354207" "0" "90" "2" "227979404" "227979404" "subst" "0" "00687" "COL4A4_000530" "g.227979404A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227114688A>G" "" "pathogenic" "" "0000354208" "0" "00" "2" "227979394" "227979394" "subst" "0" "00687" "COL4A4_000529" "g.227979394C>T" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227114678C>T" "" "VUS" "" "0000354209" "1" "90" "2" "227955340" "227976920" "del" "0" "00687" "COL4A4_000417" "g.227955340_227976920delinsA[?]" "" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "559-491_1460-1808delinsPolyT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000354210" "0" "00" "2" "227976430" "227976430" "del" "0" "00687" "COL4A4_000528" "g.227976430del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "560delG" "" "Germline" "" "" "0" "" "" "g.227111714del" "" "VUS" "" "0000354211" "0" "00" "2" "227973556" "227973556" "subst" "0" "00687" "COL4A4_000527" "g.227973556C>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227108840C>T" "" "VUS" "" "0000354212" "0" "00" "2" "227973340" "227973340" "subst" "0" "00687" "COL4A4_000526" "g.227973340T>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227108624T>A" "" "VUS" "" "0000354213" "1" "00" "2" "227968767" "227968767" "subst" "0" "00687" "COL4A4_000524" "g.227968767C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227104051C>G" "" "VUS" "" "0000354214" "0" "00" "2" "227967903" "227967903" "subst" "1.62824E-5" "00687" "COL4A4_000521" "g.227967903C>G" "" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "" "" "" "Germline" "" "" "0" "" "" "g.227103187C>G" "" "VUS" "" "0000354215" "0" "00" "2" "227967903" "227967903" "subst" "1.62824E-5" "00687" "COL4A4_000521" "g.227967903C>G" "" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "" "" "" "Germline" "" "" "0" "" "" "g.227103187C>G" "" "VUS" "" "0000354216" "0" "00" "2" "227967475" "227967521" "del" "0" "00687" "COL4A4_000298" "g.227967475_227967521del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227102759_227102805del" "" "VUS" "" "0000354217" "0" "00" "2" "227967516" "227967516" "subst" "0" "00687" "COL4A4_000520" "g.227967516G>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227102800G>A" "" "VUS" "" "0000354218" "1" "00" "2" "227966627" "227966627" "subst" "0" "00687" "COL4A4_000518" "g.227966627T>C" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "In family with two COL4A3/COL4A4 mutations in cis, inherited together on the same chromosome. Inheritance pattern was AD with recurrence risk of 50%. However, the phenotype was more severe than AD pattern." "Germline" "" "" "0" "" "" "g.227101911T>C" "" "VUS" "" "0000354220" "0" "90" "2" "227964390" "227964390" "subst" "4.06398E-6" "00687" "COL4A4_000515" "g.227964390G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227099674G>A" "" "pathogenic" "" "0000354221" "0" "00" "2" "227964378" "227964378" "subst" "0" "00687" "COL4A4_000514" "g.227964378C>G" "" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "" "" "" "Germline" "" "" "0" "" "" "g.227099662C>G" "" "VUS" "" "0000354222" "0" "00" "2" "227963516" "227963516" "subst" "0" "00687" "COL4A4_000359" "g.227963516T>G" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.227098800T>G" "" "VUS" "" "0000354223" "0" "00" "2" "227963505" "227963505" "subst" "0" "00687" "COL4A4_000511" "g.227963505C>T" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.227098789C>T" "" "VUS" "" "0000354224" "0" "00" "2" "227963496" "227963496" "subst" "8.16993E-6" "00687" "COL4A4_000510" "g.227963496C>T" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227098780C>T" "" "VUS" "" "0000354225" "0" "00" "2" "227958979" "227958979" "subst" "0" "00687" "COL4A4_000508" "g.227958979C>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227094263C>A" "" "VUS" "" "0000354226" "1" "00" "2" "227958900" "227958917" "del" "4.0782E-6" "00687" "COL4A4_000507" "g.227958900_227958917del" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "Mother of index case aged 64 with c.1504+1G>A, had haematuria, no hearing loss; her father aged 80 with c.1293_1310del; p.Lys434_Gly439del, developed ESRD at 64. Seven paternal family members with c.1293_1310del; p.Lys434_Gly439del mutation and three developed ESRF at 50, 60 and 64; and four had CRF at 47, 69, 70 and 80. None of the 7 had a hearing loss." "Germline" "" "" "0" "" "" "g.227094184_227094201del" "" "VUS" "" "0000354227" "0" "00" "2" "227958900" "227958917" "del" "4.0782E-6" "00687" "COL4A4_000507" "g.227958900_227958917del" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227094184_227094201del" "" "VUS" "" "0000354228" "0" "00" "2" "227958839" "227958890" "del" "0" "00687" "COL4A4_000304" "g.227958839_227958890del" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "1320_1369+2del" "" "Germline" "" "" "0" "" "" "g.227094123_227094174del" "" "VUS" "" "0000354229" "0" "50" "2" "227958874" "227958891" "del" "0" "00687" "COL4A4_000030" "g.227958874_227958891del" "" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "" "" "" "Germline" "" "" "0" "" "" "g.227094158_227094175del" "" "VUS" "" "0000354230" "0" "00" "2" "227958859" "227958859" "subst" "0" "00687" "COL4A4_000505" "g.227958859C>T" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227094143C>T" "" "VUS" "" "0000354231" "0" "00" "2" "227954647" "227954647" "subst" "2.03212E-5" "00687" "COL4A4_000306" "g.227954647C>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227089931C>T" "" "VUS" "" "0000354232" "0" "30" "2" "227954599" "227954599" "subst" "0.540535" "00687" "COL4A4_000034" "g.227954599G>A" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.227089883G>A" "" "likely benign" "" "0000354233" "1" "70" "2" "227954583" "227954583" "subst" "8.12823E-6" "00687" "COL4A4_000502" "g.227954583C>T" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227089867C>T" "" "likely pathogenic" "" "0000354234" "0" "70" "2" "227954583" "227954583" "subst" "8.12823E-6" "00687" "COL4A4_000502" "g.227954583C>T" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227089867C>T" "" "likely pathogenic" "" "0000354235" "0" "00" "2" "227953532" "227953532" "subst" "0" "00687" "COL4A4_000501" "g.227953532C>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227088816C>A" "" "VUS" "" "0000354236" "0" "90" "2" "227953520" "227953521" "del" "0" "00687" "COL4A4_000500" "g.227953520_227953521del" "" "" "" "1473_1474delCT" "" "Germline" "" "" "0" "" "" "g.227088804_227088805del" "" "pathogenic" "" "0000354237" "0" "90" "2" "227953520" "227953521" "del" "0" "00687" "COL4A4_000500" "g.227953520_227953521del" "" "" "" "1473_1474delCT" "" "Germline" "" "" "0" "" "" "g.227088804_227088805del" "" "pathogenic" "" "0000354238" "1" "00" "2" "227953439" "227953439" "subst" "0" "00687" "COL4A4_000499" "g.227953439C>T" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227088723C>T" "" "VUS" "" "0000354239" "0" "00" "2" "227953439" "227953439" "subst" "0" "00687" "COL4A4_000499" "g.227953439C>T" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227088723C>T" "" "VUS" "" "0000354241" "0" "70" "2" "227953364" "227953364" "subst" "0" "00687" "COL4A4_000498" "g.227953364C>A" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227088648C>A" "" "likely pathogenic" "" "0000354242" "1" "70" "2" "227953364" "227953364" "subst" "0" "00687" "COL4A4_000498" "g.227953364C>A" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227088648C>A" "" "likely pathogenic" "" "0000354244" "0" "00" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "VUS" "" "0000354245" "0" "00" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "VUS" "" "0000354246" "0" "00" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "VUS" "" "0000354247" "0" "00" "2" "227946893" "227946893" "subst" "0.0273496" "00687" "COL4A4_000038" "g.227946893C>G" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227082177C>G" "" "VUS" "" "0000354248" "0" "00" "2" "227945247" "227945247" "subst" "4.06421E-6" "00687" "COL4A4_000496" "g.227945247C>G" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "" "Germline" "" "" "0" "" "" "g.227080531C>G" "" "VUS" "" "0000354249" "1" "00" "2" "227945247" "227945247" "subst" "4.06421E-6" "00687" "COL4A4_000496" "g.227945247C>G" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "c.1715G>C pathogenic, c.-23T>G uncertain significance" "Germline" "" "" "0" "" "" "g.227080531C>G" "" "VUS" "" "0000354250" "1" "90" "2" "227945229" "227945229" "subst" "0" "00687" "COL4A4_000413" "g.227945229C>A" "" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227080513C>A" "" "pathogenic" "" "0000354251" "0" "00" "2" "227945167" "227945167" "subst" "0" "00687" "COL4A4_000495" "g.227945167C>T" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.227080451C>T" "" "VUS" "" "0000354252" "0" "90" "2" "227942741" "227942741" "subst" "0" "00687" "COL4A4_000494" "g.227942741C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227078025C>G" "" "pathogenic" "" "0000354253" "0" "90" "2" "227942676" "227942676" "subst" "8.16047E-6" "00687" "COL4A4_000493" "g.227942676G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227077960G>A" "" "pathogenic" "" "0000354254" "0" "90" "2" "227942675" "227942675" "subst" "4.08167E-6" "00687" "COL4A4_000492" "g.227942675C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227077959C>T" "" "pathogenic" "" "0000354255" "0" "90" "2" "227942611" "227942612" "delins" "0" "00687" "COL4A4_000487" "g.227942611_227942612delinsGA" "" "" "" "1985_1986delAAinsTC" "" "Germline" "" "" "0" "" "" "g.227077895_227077896delinsGA" "" "pathogenic" "" "0000354256" "0" "90" "2" "227942611" "227942612" "delins" "0" "00687" "COL4A4_000487" "g.227942611_227942612delinsGA" "" "" "" "1985_1986delAAinsTC" "" "Germline" "" "" "0" "" "" "g.227077895_227077896delinsGA" "" "pathogenic" "" "0000354257" "0" "70" "2" "227942611" "227942611" "subst" "0" "00687" "COL4A4_000311" "g.227942611T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227077895T>A" "" "likely pathogenic" "" "0000354259" "0" "00" "2" "227924941" "227924941" "subst" "0" "00687" "COL4A4_000485" "g.227924941C>A" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227060225C>A" "" "VUS" "" "0000354261" "0" "00" "2" "227924852" "227924852" "subst" "0" "00687" "COL4A4_000484" "g.227924852C>T" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227060136C>T" "" "VUS" "" "0000354262" "0" "00" "2" "227924941" "227924941" "subst" "0" "00687" "COL4A4_000485" "g.227924941C>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227060225C>A" "" "VUS" "" "0000354263" "1" "90" "2" "227924932" "227924932" "subst" "0" "00687" "COL4A4_000415" "g.227924932C>T" "" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227060216C>T" "" "pathogenic" "" "0000354264" "1" "90" "2" "227924932" "227924932" "subst" "0" "00687" "COL4A4_000415" "g.227924932C>T" "" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227060216C>T" "" "pathogenic" "" "0000354265" "0" "00" "2" "227924184" "227924184" "subst" "7.31012E-5" "00687" "COL4A4_000052" "g.227924184C>G" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.227059468C>G" "" "VUS" "" "0000354266" "0" "00" "2" "227924182" "227924182" "del" "0" "00687" "COL4A4_000478" "g.227924182del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "2322delT" "" "Germline" "" "" "0" "" "" "g.227059466del" "" "VUS" "" "0000354267" "0" "00" "2" "227924333" "227924333" "del" "0" "00687" "COL4A4_000483" "g.227924333del" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "2171delG" "" "Germline" "" "" "0" "" "" "g.227059617del" "" "VUS" "" "0000354268" "0" "00" "2" "227924288" "227924288" "dup" "0" "00687" "COL4A4_000481" "g.227924288dup" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "2219dupC" "" "Germline" "" "" "0" "" "" "g.227059572dup" "" "VUS" "" "0000354269" "0" "00" "2" "227922281" "227922281" "del" "0" "00687" "COL4A4_000477" "g.227922281del" "" "{PMID:Ramzan 2014:24398087}, {DOI:Ramzan 2014:10.1016/j.ijporl.2013.12.008}" "" "2420delG" "" "Germline" "" "" "0" "" "" "g.227057565del" "" "VUS" "" "0000354270" "0" "00" "2" "227922271" "227922271" "subst" "4.06441E-6" "00687" "COL4A4_000476" "g.227922271C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227057555C>T" "" "VUS" "" "0000354272" "1" "90" "2" "227922190" "227922190" "subst" "8.29999E-6" "00687" "COL4A4_000418" "g.227922190C>G" "" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227057474C>G" "" "pathogenic" "" "0000354273" "0" "00" "2" "227920804" "227920804" "subst" "0" "00687" "COL4A4_000473" "g.227920804C>G" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.227056088C>G" "" "VUS" "" "0000354274" "1" "90" "2" "227920769" "227920769" "subst" "0" "00687" "COL4A4_000420" "g.227920769C>G" "" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227056053C>G" "" "pathogenic" "" "0000354275" "0" "90" "2" "227920761" "227920761" "subst" "0" "00687" "COL4A4_000472" "g.227920761G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227056045G>A" "" "pathogenic" "" "0000354276" "0" "00" "2" "227920687" "227920687" "subst" "0" "00687" "COL4A4_000064" "g.227920687C>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227055971C>T" "" "VUS" "" "0000354277" "0" "00" "2" "227920687" "227920687" "subst" "0" "00687" "COL4A4_000064" "g.227920687C>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227055971C>T" "" "VUS" "" "0000354278" "1" "90" "2" "227920667" "227920667" "subst" "0" "00687" "COL4A4_000469" "g.227920667G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227055951G>A" "" "pathogenic" "" "0000354279" "0" "70" "2" "227919458" "227919458" "subst" "0.0113831" "00687" "COL4A4_000065" "g.227919458T>A" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.227054742T>A" "" "likely pathogenic" "" "0000354280" "0" "00" "2" "227919455" "227919455" "subst" "0" "00687" "COL4A4_000467" "g.227919455T>C" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227054739T>C" "" "VUS" "" "0000354281" "0" "00" "2" "227919418" "227919418" "subst" "3.24968E-5" "00687" "COL4A4_000466" "g.227919418C>T" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.227054702C>T" "" "VUS" "" "0000354282" "0" "90" "2" "227919418" "227919418" "subst" "3.24968E-5" "00687" "COL4A4_000466" "g.227919418C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227054702C>T" "" "pathogenic" "" "0000354283" "0" "00" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Gast 201610.1093/ndt/gfv325}, {DOI:Gast 2016:10.1093/ndt/gfv325}" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "VUS" "" "0000354284" "0" "00" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Malone 2014:25229338}, {DOI:Malone 2014:10.1038/ki.2014.305}" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "VUS" "" "0000354285" "1" "00" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "VUS" "" "0000354286" "1" "90" "2" "227917020" "227917020" "subst" "0" "00687" "COL4A4_000464" "g.227917020C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227052304C>T" "" "pathogenic" "" "0000354287" "0" "00" "2" "227915857" "227915857" "subst" "3.2505E-5" "00687" "COL4A4_000358" "g.227915857C>T" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.227051141C>T" "" "VUS" "" "0000354288" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "found in two normals without haematuria" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000354289" "0" "30" "2" "227915832" "227915832" "subst" "0.520569" "00687" "COL4A4_000080" "g.227915832G>A" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.227051116G>A" "" "likely benign" "" "0000354290" "0" "00" "2" "227915821" "227915821" "subst" "2.84303E-5" "00687" "COL4A4_000462" "g.227915821C>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227051105C>T" "" "VUS" "" "0000354291" "0" "90" "2" "227915718" "227915718" "subst" "0" "00687" "COL4A4_000460" "g.227915718C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051002C>A" "" "pathogenic" "" "0000354292" "0" "00" "2" "227914787" "227914787" "del" "0" "00687" "COL4A4_000458" "g.227914787del" "" "{PMID:Deng 2016:27934798}, {DOI:Deng 2016:10.4103/0971-5916.195026}" "" "3213delA" "Novel mutation that results in a premature stop codon potentially shortening the α4(IV) chain by 551 amino acids" "Germline" "" "" "0" "" "" "g.227050071del" "" "VUS" "" "0000354293" "0" "00" "2" "227914787" "227914787" "del" "0" "00687" "COL4A4_000458" "g.227914787del" "" "{PMID:Deng 2016:27934798}, {DOI:Deng 2016:10.4103/0971-5916.195026}" "" "3213delA" "" "Germline" "" "" "0" "" "" "g.227050071del" "" "VUS" "" "0000354294" "0" "00" "2" "227907883" "227907883" "subst" "2.03403E-5" "00687" "COL4A4_000422" "g.227907883C>T" "" "{PMID:Nishizawa 2016:26628290}, {DOI:Nishizawa 2016:10.1111/jog.12897}" "" "" "" "Germline" "" "" "0" "" "" "g.227043167C>T" "" "VUS" "" "0000354295" "3" "90" "2" "227907883" "227907883" "subst" "2.03403E-5" "00687" "COL4A4_000422" "g.227907883C>T" "" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227043167C>T" "" "pathogenic" "" "0000354296" "1" "00" "2" "227906917" "227906917" "subst" "4.06379E-5" "00687" "COL4A4_000455" "g.227906917C>G" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "Mother had c.898G>A; p.Gly300Arg in COL4A3, with haematuria; father had c.3452G>C; p.Gly1151Ala in COL4A4, with haematuria" "Germline" "" "" "0" "" "" "g.227042201C>G" "" "VUS" "" "0000354297" "0" "00" "2" "227906917" "227906917" "subst" "4.06379E-5" "00687" "COL4A4_000455" "g.227906917C>G" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227042201C>G" "" "VUS" "" "0000354298" "0" "90" "2" "227898162" "227898162" "subst" "0" "00687" "COL4A4_000335" "g.227898162C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227033446C>T" "" "pathogenic" "" "0000354299" "0" "00" "2" "227898125" "227898125" "subst" "0" "00687" "COL4A4_000453" "g.227898125C>T" "" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "" "" "" "Germline" "" "" "0" "" "" "g.227033409C>T" "" "VUS" "" "0000354300" "1" "00" "2" "227896873" "227896873" "subst" "0" "00687" "COL4A4_000449" "g.227896873C>T" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "In family with two COL4A3/COL4A4 mutations, in cis, inherited together on the same chromosome. In these cases, the inheritance was AD with a recurrence risk of 50%. However, the phenotype is more severe than with AD inheritance." "Germline" "" "" "0" "" "" "g.227032157C>T" "" "VUS" "" "0000354301" "0" "00" "2" "227896886" "227896886" "del" "0" "00687" "COL4A4_000450" "g.227896886del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "3684delG" "" "Germline" "" "" "0" "" "" "g.227032170del" "" "VUS" "" "0000354302" "0" "00" "2" "227896736" "227896736" "subst" "0" "00687" "COL4A4_000337" "g.227896736C>A" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227032020C>A" "" "VUS" "" "0000354303" "0" "50" "2" "227896652" "227896652" "subst" "0.473931" "00687" "COL4A4_000097" "g.227896652C>G" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.227031936C>G" "" "VUS" "" "0000354305" "0" "70" "2" "227896660" "227896660" "subst" "0" "00687" "COL4A4_000448" "g.227896660C>A" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227031944C>A" "" "likely pathogenic" "" "0000354306" "0" "00" "2" "227896660" "227896660" "subst" "0" "00687" "COL4A4_000448" "g.227896660C>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227031944C>A" "" "VUS" "" "0000354307" "0" "90" "2" "227895203" "227895203" "subst" "0" "00687" "COL4A4_000446" "g.227895203C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227030487C>T" "" "pathogenic" "" "0000354308" "0" "90" "2" "227895199" "227895199" "subst" "4.06379E-6" "00687" "COL4A4_000445" "g.227895199G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227030483G>C" "" "pathogenic" "" "0000354309" "0" "30" "2" "227892720" "227892720" "subst" "0.470498" "00687" "COL4A4_000099" "g.227892720C>T" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.227028004C>T" "" "likely benign" "" "0000354310" "0" "00" "2" "227886884" "227886884" "del" "0" "00687" "COL4A4_000441" "g.227886884del" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.227022168del" "" "VUS" "" "0000354311" "1" "00" "2" "227886785" "227886785" "subst" "0.000845096" "00687" "COL4A4_000254" "g.227886785T>A" "" "{PMID:Guo 2017:28674241}, {DOI:Guo 201:10.1007/s12041-017-0786-7}" "" "" "" "Germline" "" "" "0" "" "" "g.227022069T>A" "" "VUS" "" "0000354312" "0" "00" "2" "227886851" "227886851" "subst" "8.14425E-6" "00687" "COL4A4_000105" "g.227886851G>A" "" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "" "" "" "Germline" "" "" "0" "" "" "g.227022135G>A" "" "VUS" "" "0000354313" "0" "30" "2" "227886773" "227886773" "subst" "0.477807" "00687" "COL4A4_000110" "g.227886773A>G" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.227022057A>G" "" "likely benign" "" "0000354314" "0" "00" "2" "227886772" "227886772" "dup" "0" "00687" "COL4A4_000440" "g.227886772dup" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "4208_4209insC" "" "Germline" "" "" "0" "" "" "g.227022056dup" "" "VUS" "" "0000354315" "0" "00" "2" "227876963" "227876963" "subst" "0" "00687" "COL4A4_000439" "g.227876963G>A" "" "{PMID:Rosado 2014:25755845}" "" "" "" "Germline" "" "" "0" "" "" "g.227012247G>A" "" "VUS" "" "0000354316" "0" "00" "2" "227875157" "227875157" "subst" "7.34634E-5" "00687" "COL4A4_000344" "g.227875157C>T" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.227010441C>T" "" "VUS" "" "0000354317" "0" "00" "2" "227875111" "227875111" "del" "0" "00687" "COL4A4_000437" "g.227875111del" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.227010395del" "" "VUS" "" "0000354318" "0" "30" "2" "227875157" "227875157" "subst" "7.34634E-5" "00687" "COL4A4_000344" "g.227875157C>T" "" "{PMID:Kovacs 2016:26934356}, {DOI:Kovacs 2016:10.1371/journal.pone.0149241}" "" "" "" "Germline" "" "" "0" "" "" "g.227010441C>T" "" "likely benign" "" "0000354319" "3" "00" "2" "227872973" "227872973" "del" "0" "00687" "COL4A4_000436" "g.227872973del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227008257del" "" "VUS" "" "0000354320" "0" "00" "2" "227872897" "227872897" "del" "0" "00687" "COL4A4_000434" "g.227872897del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "4646delT" "" "Germline" "" "" "0" "" "" "g.227008181del" "" "VUS" "" "0000354321" "0" "00" "2" "227872850" "227872850" "subst" "3.25712E-5" "00687" "COL4A4_000433" "g.227872850G>A" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227008134G>A" "" "VUS" "" "0000354322" "0" "00" "2" "227872845" "227872845" "del" "4.07199E-6" "00687" "COL4A4_000431" "g.227872845del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "4698delT" "" "Germline" "" "" "0" "" "" "g.227008129del" "" "VUS" "" "0000354323" "1" "00" "2" "227872845" "227872845" "del" "4.07199E-6" "00687" "COL4A4_000431" "g.227872845del" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "4698delT" "" "Germline" "" "" "0" "" "" "g.227008129del" "" "VUS" "" "0000354324" "0" "00" "2" "227872845" "227872845" "del" "4.07199E-6" "00687" "COL4A4_000431" "g.227872845del" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "4698delT" "" "Germline" "" "" "0" "" "" "g.227008129del" "" "VUS" "" "0000354326" "0" "00" "2" "227872783" "227872783" "subst" "0.00203687" "00687" "COL4A4_000430" "g.227872783G>C" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227008067G>C" "" "VUS" "" "0000354327" "0" "00" "2" "227872294" "227872294" "del" "0" "00687" "COL4A4_000429" "g.227872294del" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "4820delC" "" "Germline" "" "" "0" "" "" "g.227007578del" "" "VUS" "" "0000354328" "0" "00" "2" "227872267" "227872267" "subst" "4.08988E-6" "00687" "COL4A4_000428" "g.227872267A>C" "" "{PMID:Imafuku 2017:28704582}, {DOI:Imafuku 2017:10.1111/nep.13115}" "" "" "" "Germline" "" "" "0" "" "" "g.227007551A>C" "" "VUS" "" "0000354329" "0" "50" "2" "227872169" "227872169" "subst" "5.68634E-5" "00687" "COL4A4_000260" "g.227872169T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227007453T>C" "" "VUS" "" "0000354330" "0" "90" "2" "227872161" "227872161" "subst" "0" "00687" "COL4A4_000427" "g.227872161C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227007445C>T" "" "pathogenic" "" "0000354331" "0" "00" "2" "227872100" "227872104" "del" "0" "00687" "COL4A4_000426" "g.227872100_227872104del" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "Germline" "" "" "0" "" "" "g.227007384_227007388del" "" "VUS" "" "0000354332" "1" "00" "2" "227872069" "227872069" "subst" "0.000125889" "00687" "COL4A4_000124" "g.227872069C>T" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "The two mutations in COL4A3 and COL4A4 were inherited independently, suggesting in trans. Mimics AR inheritance with a 25% probability of another child with the same genotype. The phenotype severity is intermediate between AD and AR. The index case with two heterozygous mutations, presented with CRF at 40 years and ESRD at 49. His brother aged 47 years, with only one mutation in COL4A4, has haematuria and proteinuria with normal renal function" "Germline" "" "" "0" "" "" "g.227007353C>T" "" "VUS" "" "0000354333" "0" "00" "2" "227872069" "227872069" "subst" "0.000125889" "00687" "COL4A4_000124" "g.227872069C>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227007353C>T" "" "VUS" "" "0000354334" "0" "00" "2" "227872066" "227872066" "subst" "8.12189E-6" "00687" "COL4A4_000357" "g.227872066C>T" "" "{PMID:Weber 2016:26809805}, {DOI:Weber 2016:10.1007/s00467-015-3302-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227007350C>T" "" "VUS" "" "0000354335" "0" "90" "2" "227872065" "227872065" "subst" "0" "00687" "COL4A4_000423" "g.227872065G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227007349G>T" "" "pathogenic" "" "0000354736" "0" "50" "2" "227919456" "227919456" "subst" "7.36016E-5" "00687" "COL4A4_000468" "g.227919456G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227054740G>A" "" "VUS" "" "0000354739" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000354744" "0" "50" "2" "227924193" "227924193" "subst" "4.06111E-6" "00687" "COL4A4_000479" "g.227924193C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227059477C>T" "" "VUS" "" "0000354746" "0" "70" "2" "227876896" "227877014" "del" "0" "00687" "COL4A4_000410" "g.(227875218_227876896)_(227877014_227886763)del" "" "" "" "ex45 del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000354751" "0" "50" "2" "227912220" "227912220" "subst" "4.06785E-6" "00687" "COL4A4_000456" "g.227912220T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227047504T>G" "" "VUS" "" "0000354755" "0" "50" "2" "227892641" "227892641" "subst" "4.06355E-6" "00687" "COL4A4_000444" "g.227892641C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227027925C>T" "" "VUS" "" "0000354757" "0" "70" "2" "227958869" "227958886" "del" "0" "00687" "COL4A4_000506" "g.227958869_227958886del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227094153_227094170del" "" "likely pathogenic" "" "0000354759" "0" "50" "2" "227912248" "227912248" "subst" "0.00142051" "00687" "COL4A4_000231" "g.227912248C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227047532C>T" "" "VUS" "" "0000354762" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000354764" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000354770" "0" "50" "2" "228009260" "228009260" "subst" "0" "00687" "COL4A4_000541" "g.228009260A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227144544A>T" "" "VUS" "" "0000354774" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000354776" "0" "50" "2" "227875221" "227875221" "del" "0" "00687" "COL4A4_000438" "g.227875221del" "" "" "" "4334-3del" "" "Germline" "" "" "0" "" "" "g.227010505del" "" "VUS" "" "0000354778" "0" "50" "2" "227964361" "227964361" "subst" "4.06286E-6" "00687" "COL4A4_000513" "g.227964361C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227099645C>G" "" "VUS" "" "0000354780" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000354782" "0" "90" "2" "227924268" "227924290" "delins" "0" "00687" "COL4A4_000480" "g.227924268_227924290delinsT" "" "" "" "2214_2236del23insA" "" "Germline" "" "" "0" "" "" "g.227059552_227059574delinsT" "" "pathogenic" "" "0000354785" "0" "50" "2" "228012150" "228012150" "subst" "0.000824747" "00687" "COL4A4_000213" "g.228012150T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227147434T>C" "" "VUS" "" "0000354787" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000354790" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000354792" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000354796" "0" "50" "2" "227958831" "227958831" "subst" "0" "00687" "COL4A4_000504" "g.227958831A>C" "" "" "" "1321_1369+3del52" "" "Germline" "" "" "0" "" "" "g.227094115A>C" "" "VUS" "" "0000354798" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000354799" "0" "50" "2" "227968749" "227968749" "subst" "0" "00687" "COL4A4_000522" "g.227968749C>N" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227104033C>N" "" "VUS" "" "0000354800" "0" "50" "2" "227915825" "227915825" "subst" "0.000324907" "00687" "COL4A4_000463" "g.227915825T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051109T>A" "" "VUS" "" "0000354801" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "00687" "COL4A4_000079" "g.227915847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051131C>T" "" "VUS" "" "0000354808" "0" "70" "2" "227942654" "227942654" "subst" "0" "00687" "COL4A4_000491" "g.227942654C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227077938C>T" "" "likely pathogenic" "" "0000354809" "0" "70" "2" "227915782" "227915782" "subst" "0" "00687" "COL4A4_000461" "g.227915782C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227051066C>G" "" "likely pathogenic" "" "0000354813" "0" "90" "2" "228004876" "228012200" "del" "0" "00687" "COL4A4_000408" "g.(227985865_228004876)_(228012200_?)del" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "del ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000354820" "0" "00" "2" "227906917" "227906917" "subst" "4.06379E-5" "00687" "COL4A4_000455" "g.227906917C>G" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227042201C>G" "" "VUS" "" "0000354823" "0" "00" "2" "227958987" "227958988" "del" "0" "00687" "COL4A4_000509" "g.227958987_227958988del" "" "{PMID:Sirisena 2015:26194984}, {DOI:Sirisena 2015:10.1111/nep.12430}" "" "1223_1224delGG" "" "Germline" "" "" "0" "" "" "g.227094271_227094272del" "" "VUS" "" "0000354826" "0" "00" "2" "227958900" "227958917" "del" "4.0782E-6" "00687" "COL4A4_000507" "g.227958900_227958917del" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227094184_227094201del" "" "VUS" "" "0000354828" "0" "00" "2" "227872845" "227872845" "del" "4.07199E-6" "00687" "COL4A4_000432" "g.227872845del" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227008129del" "" "VUS" "" "0000354836" "0" "70" "2" "227954583" "227954583" "subst" "8.12823E-6" "00687" "COL4A4_000502" "g.227954583C>T" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227089867C>T" "" "likely pathogenic" "" "0000354846" "0" "00" "2" "227953439" "227953439" "subst" "0" "00687" "COL4A4_000499" "g.227953439C>T" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227088723C>T" "" "VUS" "" "0000354854" "0" "00" "2" "227966627" "227966627" "subst" "0" "00687" "COL4A4_000518" "g.227966627T>C" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.227101911T>C" "" "VUS" "" "0000354855" "0" "00" "2" "227896873" "227896873" "subst" "0" "00687" "COL4A4_000449" "g.227896873C>T" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.227032157C>T" "" "VUS" "" "0000354860" "0" "00" "2" "227872069" "227872069" "subst" "0.000125889" "00687" "COL4A4_000124" "g.227872069C>T" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.227007353C>T" "" "VUS" "" "0000354861" "0" "00" "2" "227917083" "227917083" "subst" "6.90423E-5" "00687" "COL4A4_000075" "g.227917083G>C" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227052367G>C" "" "VUS" "" "0000354864" "2" "90" "2" "227917111" "227917111" "subst" "1.21853E-5" "00687" "COL4A4_000073" "g.227917111C>T" "" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227052395C>T" "" "pathogenic" "" "0000354865" "0" "00" "2" "227872069" "227872069" "subst" "0.000125889" "00687" "COL4A4_000124" "g.227872069C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227007353C>T" "" "VUS" "" "0000354874" "0" "00" "2" "227872783" "227872783" "subst" "0.00203687" "00687" "COL4A4_000430" "g.227872783G>C" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227008067G>C" "" "VUS" "" "0000354876" "0" "70" "2" "228012222" "228012222" "subst" "0" "00687" "COL4A4_000543" "g.228012222A>C" "" "{PMID:Liu 2017:28542346}, {DOI:Liu 201:/10.1371/journal.pone.0177685}" "" "" "" "Germline" "" "" "0" "" "" "g.227147506A>C" "" "likely pathogenic" "" "0000354877" "2" "90" "2" "227876976" "227876989" "del" "0" "00687" "COL4A4_000414" "g.227876976_227876989del" "" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "4241_4254del14bp" "" "Germline" "" "" "0" "" "" "g.227012260_227012273del" "" "pathogenic" "" "0000354882" "0" "90" "2" "227896953" "227896962" "del" "0" "00687" "COL4A4_000452" "g.227896953_227896962del" "" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227032237_227032246del" "" "pathogenic" "" "0000354883" "2" "90" "2" "227875082" "227875082" "subst" "0" "00687" "COL4A4_000416" "g.227875082C>G" "" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227010366C>G" "" "pathogenic" "" "0000354884" "2" "90" "2" "227914847" "227914847" "subst" "0" "00687" "COL4A4_000419" "g.227914847C>G" "" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "" "" "Germline" "" "" "0" "" "" "g.227050131C>G" "" "pathogenic" "" "0000354885" "2" "90" "2" "227896885" "227896885" "dup" "0" "00687" "COL4A4_000421" "g.227896885dup" "" "{PMID:Oka 2014:24633401}, {DOI:Oka 2014:10.1007/s00467-014-2797-4}" "" "3687insA" "" "Germline" "" "" "0" "" "" "g.227032169dup" "" "pathogenic" "" "0000354887" "0" "00" "2" "227954583" "227954583" "subst" "8.12823E-6" "00687" "COL4A4_000502" "g.227954583C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227089867C>T" "" "VUS" "" "0000354889" "0" "00" "2" "227872067" "227872067" "subst" "0" "00687" "COL4A4_000424" "g.227872067A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227007351A>C" "" "VUS" "" "0000354894" "0" "00" "2" "227890507" "227890507" "subst" "0" "00687" "COL4A4_000443" "g.227890507G>A" "" "{PMID:Guo 2017:28674241}, {DOI:Guo 201:10.1007/s12041-017-0786-7}" "" "" "" "Germline" "" "" "0" "" "" "g.227025791G>A" "" "VUS" "" "0000354899" "0" "00" "2" "227966329" "227966329" "subst" "0" "00687" "COL4A4_000517" "g.227966329T>C" "" "{PMID:Fallerini 2014:24033287}, (DOI:Fallerini 2014:10.1111/cge.12258}" "" "" "" "Germline" "" "" "0" "" "" "g.227101613T>C" "" "VUS" "" "0000354900" "0" "00" "2" "227924941" "227924941" "subst" "0" "00687" "COL4A4_000485" "g.227924941C>A" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227060225C>A" "" "VUS" "" "0000354902" "0" "70" "2" "227953364" "227953364" "subst" "0" "00687" "COL4A4_000498" "g.227953364C>A" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227088648C>A" "" "likely pathogenic" "" "0000354903" "0" "00" "2" "227872783" "227872783" "subst" "0.00203687" "00687" "COL4A4_000430" "g.227872783G>C" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227008067G>C" "" "VUS" "" "0000354907" "0" "90" "2" "227886851" "227886851" "subst" "8.14425E-6" "00687" "COL4A4_000105" "g.227886851G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227022135G>A" "" "pathogenic" "" "0000354908" "0" "70" "2" "227896660" "227896660" "subst" "0" "00687" "COL4A4_000448" "g.227896660C>A" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227031944C>A" "" "likely pathogenic" "" "0000354909" "0" "00" "2" "227924852" "227924852" "subst" "0" "00687" "COL4A4_000484" "g.227924852C>T" "" "{PMID:Mencarelli 2015:25575550}, {DOI:Mencarelli 2015:10.1136/jmedgenet-2014-102822}" "" "" "" "Germline" "" "" "0" "" "" "g.227060136C>T" "" "VUS" "" "0000354910" "0" "70" "2" "227872828" "227872828" "subst" "0.000142693" "00687" "COL4A4_000117" "g.227872828G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227008112G>A" "" "likely pathogenic" "" "0000354913" "0" "50" "2" "227896902" "227896902" "subst" "2.03145E-5" "00687" "COL4A4_000451" "g.227896902G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227032186G>A" "" "VUS" "" "0000354917" "0" "50" "2" "227924315" "227924315" "subst" "4.07163E-5" "00687" "COL4A4_000482" "g.227924315G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227059599G>A" "" "VUS" "" "0000437562" "0" "50" "2" "227967891" "227967891" "subst" "0" "03107" "COL4A4_000544" "g.227967891A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227103175A>C" "" "VUS" "" "0000501328" "3" "70" "2" "227985866" "227985866" "subst" "0" "03364" "COL4A4_000545" "g.227985866T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.227121150T>G" "" "pathogenic (recessive)" "" "0000514902" "0" "50" "2" "227872783" "227872783" "subst" "0.00203687" "01943" "COL4A4_000430" "g.227872783G>C" "" "" "" "COL4A4(NM_000092.4):c.4760C>G (p.P1587R, p.(Pro1587Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227008067G>C" "" "VUS" "" "0000514904" "0" "90" "2" "227875070" "227875070" "subst" "0" "02327" "COL4A4_000547" "g.227875070A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227010354A>T" "" "pathogenic" "" "0000514905" "0" "50" "2" "227875157" "227875157" "subst" "7.34634E-5" "01943" "COL4A4_000344" "g.227875157C>T" "" "" "" "COL4A4(NM_000092.4):c.4394G>A (p.G1465D, p.(Gly1465Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227010441C>T" "" "VUS" "" "0000514906" "0" "30" "2" "227875202" "227875202" "subst" "0.000378187" "01943" "COL4A4_000243" "g.227875202A>G" "" "" "" "COL4A4(NM_000092.4):c.4349T>C (p.I1450T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227010486A>G" "" "likely benign" "" "0000514907" "0" "30" "2" "227892692" "227892692" "subst" "2.85493E-5" "01804" "COL4A4_000548" "g.227892692T>C" "" "" "" "COL4A4(NM_000092.4):c.4007A>G (p.(His1336Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227027976T>C" "" "likely benign" "" "0000514908" "0" "50" "2" "227896735" "227896735" "subst" "6.50095E-5" "01943" "COL4A4_000549" "g.227896735C>T" "" "" "" "COL4A4(NM_000092.4):c.3743G>A (p.G1248E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227032019C>T" "" "VUS" "" "0000514910" "0" "10" "2" "227912247" "227912247" "subst" "0.00310104" "02326" "COL4A4_000232" "g.227912247G>A" "" "" "" "COL4A4(NM_000092.4):c.3233C>T (p.A1078V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227047531G>A" "" "benign" "" "0000514911" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "01943" "COL4A4_000079" "g.227915847C>T" "" "" "" "COL4A4(NM_000092.4):c.2996G>A (p.G999E, p.(Gly999Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227051131C>T" "" "VUS" "" "0000514912" "0" "30" "2" "227915847" "227915847" "subst" "0.0115604" "01804" "COL4A4_000079" "g.227915847C>T" "" "" "" "COL4A4(NM_000092.4):c.2996G>A (p.G999E, p.(Gly999Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227051131C>T" "" "likely benign" "" "0000514913" "0" "10" "2" "227915847" "227915847" "subst" "0.0115604" "02326" "COL4A4_000079" "g.227915847C>T" "" "" "" "COL4A4(NM_000092.4):c.2996G>A (p.G999E, p.(Gly999Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227051131C>T" "" "benign" "" "0000514914" "0" "30" "2" "227917090" "227917090" "subst" "0.00705472" "01804" "COL4A4_000074" "g.227917090T>C" "" "" "" "COL4A4(NM_000092.4):c.2899A>G (p.(Ile967Val), p.I967V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227052374T>C" "" "likely benign" "" "0000514915" "0" "70" "2" "227920715" "227920715" "subst" "0" "02327" "COL4A4_000550" "g.227920715C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227055999C>T" "" "likely pathogenic" "" "0000514916" "0" "10" "2" "227920747" "227920747" "subst" "0.00378434" "01943" "COL4A4_000060" "g.227920747C>T" "" "" "" "COL4A4(NM_000092.4):c.2630G>A (p.R877Q, p.(Arg877Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227056031C>T" "" "benign" "" "0000514917" "0" "30" "2" "227924182" "227924182" "subst" "2.43675E-5" "01943" "COL4A4_000551" "g.227924182A>T" "" "" "" "COL4A4(NM_000092.4):c.2322T>A (p.G774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227059466A>T" "" "likely benign" "" "0000514918" "0" "50" "2" "227924184" "227924184" "subst" "7.31012E-5" "01943" "COL4A4_000052" "g.227924184C>G" "" "" "" "COL4A4(NM_000092.4):c.2320G>C (p.G774R, p.(Gly774Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227059468C>G" "" "VUS" "" "0000514920" "0" "30" "2" "227924263" "227924263" "subst" "0.000101586" "01943" "COL4A4_000552" "g.227924263G>A" "" "" "" "COL4A4(NM_000092.4):c.2241C>T (p.P747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227059547G>A" "" "likely benign" "" "0000514922" "0" "30" "2" "227924314" "227924314" "subst" "1.22134E-5" "01943" "COL4A4_000554" "g.227924314C>T" "" "" "" "COL4A4(NM_000092.4):c.2190G>A (p.P730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227059598C>T" "" "likely benign" "" "0000514923" "0" "10" "2" "227924835" "227924841" "dup" "0" "02326" "COL4A4_000555" "g.227924835_227924841dup" "" "" "" "COL4A4(NM_000092.4):c.2164+28_2164+34dupTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227060119_227060125dup" "" "benign" "" "0000514924" "0" "30" "2" "227924844" "227924844" "subst" "0" "02326" "COL4A4_000556" "g.227924844T>A" "" "" "" "COL4A4(NM_000092.4):c.2164+8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227060128T>A" "" "likely benign" "" "0000514925" "0" "10" "2" "227927201" "227927202" "del" "0" "02326" "COL4A4_000557" "g.227927201_227927202del" "" "" "" "COL4A4(NM_000092.4):c.2056+55_2056+56delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227062485_227062486del" "" "benign" "" "0000514927" "0" "30" "2" "227942764" "227942764" "subst" "0.00516493" "01943" "COL4A4_000043" "g.227942764A>G" "" "" "" "COL4A4(NM_000092.4):c.1833T>C (p.G611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227078048A>G" "" "likely benign" "" "0000514928" "0" "10" "2" "227942764" "227942764" "subst" "0.00516493" "02326" "COL4A4_000043" "g.227942764A>G" "" "" "" "COL4A4(NM_000092.4):c.1833T>C (p.G611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227078048A>G" "" "benign" "" "0000514929" "0" "30" "2" "227946865" "227946865" "subst" "0" "01943" "COL4A4_000558" "g.227946865C>G" "" "" "" "COL4A4(NM_000092.4):c.1662G>C (p.G554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227082149C>G" "" "likely benign" "" "0000514931" "0" "10" "2" "227953336" "227953336" "subst" "0.00350643" "02326" "COL4A4_000559" "g.227953336T>C" "" "" "" "COL4A4(NM_000092.4):c.1623+33A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227088620T>C" "" "benign" "" "0000514934" "0" "10" "2" "227954599" "227954599" "subst" "0.540535" "02325" "COL4A4_000034" "g.227954599G>A" "" "" "" "COL4A4(NM_000092.5):c.1444C>T (p.P482S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227089883G>A" "" "benign" "" "0000514935" "0" "30" "2" "227958939" "227958939" "subst" "4.07246E-6" "01943" "COL4A4_000561" "g.227958939A>G" "" "" "" "COL4A4(NM_000092.4):c.1271T>C (p.I424T, p.(Ile424Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227094223A>G" "" "likely benign" "" "0000514936" "0" "50" "2" "227966603" "227966603" "subst" "0" "01943" "COL4A4_000562" "g.227966603G>A" "" "" "" "COL4A4(NM_000092.4):c.953C>T (p.S318F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227101887G>A" "" "VUS" "" "0000514938" "0" "10" "2" "227973576" "227973576" "subst" "0.00162281" "01943" "COL4A4_000215" "g.227973576C>T" "" "" "" "COL4A4(NM_000092.4):c.666G>A (p.P222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227108860C>T" "" "benign" "" "0000514939" "0" "10" "2" "227973576" "227973576" "subst" "0.00162281" "02326" "COL4A4_000215" "g.227973576C>T" "" "" "" "COL4A4(NM_000092.4):c.666G>A (p.P222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227108860C>T" "" "benign" "" "0000514940" "0" "50" "2" "227983368" "227983368" "subst" "1.22043E-5" "02327" "COL4A4_000564" "g.227983368C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227118652C>A" "" "VUS" "" "0000514941" "0" "70" "2" "227983369" "227983369" "subst" "8.13484E-6" "02327" "COL4A4_000531" "g.227983369C>G" "" "" "" "COL4A4(NM_000092.4):c.481G>C (p.(Gly161Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227118653C>G" "" "likely pathogenic" "" "0000514942" "0" "30" "2" "228012304" "228012304" "subst" "0" "01804" "COL4A4_000392" "g.228012304T>C" "" "" "" "COL4A4(NM_000092.4):c.-101-4A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227147588T>C" "" "likely benign" "" "0000514943" "0" "30" "2" "228012304" "228012304" "subst" "0" "02326" "COL4A4_000392" "g.228012304T>C" "" "" "" "COL4A4(NM_000092.4):c.-101-4A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227147588T>C" "" "likely benign" "" "0000607557" "0" "70" "2" "227872066" "227872066" "subst" "8.12189E-6" "02327" "COL4A4_000357" "g.227872066C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227007350C>T" "" "likely pathogenic" "" "0000607558" "0" "50" "2" "227872132" "227872132" "subst" "0.000125897" "02327" "COL4A4_000565" "g.227872132A>T" "" "" "" "COL4A4(NM_000092.5):c.4982T>A (p.(Phe1661Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227007416A>T" "" "VUS" "" "0000607559" "0" "10" "2" "227872182" "227872182" "subst" "0.467875" "02327" "COL4A4_000122" "g.227872182G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227007466G>A" "" "benign" "" "0000607560" "0" "50" "2" "227872190" "227872190" "subst" "6.90748E-5" "02327" "COL4A4_000546" "g.227872190G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227007474G>A" "" "VUS" "" "0000607562" "0" "70" "2" "227872738" "227872764" "dup" "0" "02327" "COL4A4_000270" "g.227872738_227872764dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227008022_227008048dup" "" "likely pathogenic" "" "0000607563" "0" "90" "2" "227872755" "227872755" "subst" "4.10283E-6" "02327" "COL4A4_000278" "g.227872755C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227008039C>T" "" "pathogenic" "" "0000607564" "0" "90" "2" "227872756" "227872756" "subst" "0" "02327" "COL4A4_000567" "g.227872756C>T" "" "" "" "COL4A4(NM_000092.4):c.4787G>A (p.W1596*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227008040C>T" "" "pathogenic" "" "0000607565" "0" "50" "2" "227872783" "227872783" "subst" "0.00203687" "02327" "COL4A4_000430" "g.227872783G>C" "" "" "" "COL4A4(NM_000092.4):c.4760C>G (p.P1587R, p.(Pro1587Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227008067G>C" "" "VUS" "" "0000607566" "0" "90" "2" "227872823" "227872823" "subst" "0" "02327" "COL4A4_000568" "g.227872823G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227008107G>A" "" "pathogenic" "" "0000607567" "0" "90" "2" "227872984" "227872984" "del" "0" "02327" "COL4A4_000569" "g.227872984del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227008268del" "" "pathogenic" "" "0000607568" "0" "10" "2" "227872995" "227872995" "subst" "0.557962" "02327" "COL4A4_000116" "g.227872995T>C" "" "" "" "COL4A4(NM_000092.5):c.4548A>G (p.V1516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227008279T>C" "" "benign" "" "0000607569" "0" "70" "2" "227873021" "227873021" "subst" "0" "02327" "COL4A4_000349" "g.227873021C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227008305C>T" "" "likely pathogenic" "" "0000607570" "0" "10" "2" "227873028" "227873028" "subst" "0.4674" "02327" "COL4A4_000115" "g.227873028A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227008312A>G" "" "benign" "" "0000607571" "0" "70" "2" "227875038" "227875038" "subst" "2.84271E-5" "02327" "COL4A4_000570" "g.227875038G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227010322G>C" "" "likely pathogenic" "" "0000607572" "0" "90" "2" "227875111" "227875111" "del" "0" "02327" "COL4A4_000437" "g.227875111del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227010395del" "" "pathogenic" "" "0000607573" "0" "50" "2" "227875130" "227875130" "subst" "0.000150431" "02327" "COL4A4_000571" "g.227875130G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227010414G>A" "" "VUS" "" "0000607574" "0" "70" "2" "227875157" "227875157" "subst" "7.34634E-5" "02327" "COL4A4_000344" "g.227875157C>T" "" "" "" "COL4A4(NM_000092.4):c.4394G>A (p.G1465D, p.(Gly1465Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227010441C>T" "" "likely pathogenic" "" "0000607575" "0" "30" "2" "227875202" "227875202" "subst" "0.000378187" "02327" "COL4A4_000243" "g.227875202A>G" "" "" "" "COL4A4(NM_000092.4):c.4349T>C (p.I1450T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227010486A>G" "" "likely benign" "" "0000607576" "0" "30" "2" "227875221" "227875221" "del" "0" "02327" "COL4A4_000438" "g.227875221del" "" "" "" "COL4A4(NM_000092.4):c.4334-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227010505del" "" "likely benign" "" "0000607577" "0" "50" "2" "227876898" "227876898" "subst" "0" "02327" "COL4A4_000572" "g.227876898T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227012182T>C" "" "VUS" "" "0000607578" "0" "30" "2" "227877028" "227877028" "subst" "0.00191615" "02327" "COL4A4_000573" "g.227877028A>G" "" "" "" "COL4A4(NM_000092.4):c.4217-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227012312A>G" "" "likely benign" "" "0000607579" "0" "10" "2" "227877037" "227877037" "subst" "0.478293" "02327" "COL4A4_000111" "g.227877037G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227012321G>A" "" "benign" "" "0000607580" "0" "30" "2" "227886828" "227886828" "subst" "0.000589637" "01943" "COL4A4_000240" "g.227886828C>T" "" "" "" "COL4A4(NM_000092.4):c.4152G>A (p.A1384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227022112C>T" "" "likely benign" "" "0000607581" "0" "30" "2" "227886828" "227886828" "subst" "0.000589637" "02327" "COL4A4_000240" "g.227886828C>T" "" "" "" "COL4A4(NM_000092.4):c.4152G>A (p.A1384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227022112C>T" "" "likely benign" "" "0000607582" "0" "90" "2" "227886851" "227886851" "subst" "8.14425E-6" "02327" "COL4A4_000105" "g.227886851G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227022135G>A" "" "pathogenic" "" "0000607583" "0" "90" "2" "227886884" "227886884" "dup" "0" "02327" "COL4A4_000574" "g.227886884dup" "" "" "" "COL4A4(NM_000092.4):c.4097dupC (p.P1368Afs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227022168dup" "" "pathogenic" "" "0000607584" "0" "10" "2" "227886925" "227886925" "subst" "0.460684" "02327" "COL4A4_000104" "g.227886925C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227022209C>T" "" "benign" "" "0000607585" "0" "70" "2" "227890526" "227890526" "subst" "0" "02327" "COL4A4_000575" "g.227890526C>T" "" "" "" "COL4A4(NM_000092.4):c.4082G>A (p.G1361D), COL4A4(NM_000092.5):c.4082G>A (p.(Gly1361Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227025810C>T" "" "likely pathogenic" "" "0000607586" "0" "30" "2" "227890534" "227890534" "subst" "0.00431906" "02327" "COL4A4_000576" "g.227890534G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227025818G>A" "" "likely benign" "" "0000607587" "0" "30" "2" "227892583" "227892583" "subst" "0" "02327" "COL4A4_000577" "g.227892583T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227027867T>C" "" "likely benign" "" "0000607588" "0" "10" "2" "227892619" "227892619" "subst" "0.472301" "02327" "COL4A4_000100" "g.227892619C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227027903C>T" "" "benign" "" "0000607589" "0" "30" "2" "227892658" "227892658" "subst" "0.0057045" "02327" "COL4A4_000253" "g.227892658T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227027942T>C" "" "likely benign" "" "0000607590" "0" "10" "2" "227892720" "227892720" "subst" "0.470498" "02327" "COL4A4_000099" "g.227892720C>T" "" "" "" "COL4A4(NM_000092.4):c.3979G>A (p.V1327M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227028004C>T" "" "benign" "" "0000607591" "0" "10" "2" "227895125" "227895125" "subst" "0.475141" "02327" "COL4A4_000098" "g.227895125A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227030409A>G" "" "benign" "" "0000607592" "0" "10" "2" "227895169" "227895169" "subst" "0.00156602" "02327" "COL4A4_000237" "g.227895169A>G" "" "" "" "COL4A4(NM_000092.4):c.3963T>C (p.D1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227030453A>G" "" "benign" "" "0000607593" "0" "70" "2" "227895257" "227895257" "subst" "0" "02327" "COL4A4_000578" "g.227895257C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227030541C>T" "" "likely pathogenic" "" "0000607594" "0" "50" "2" "227895285" "227895285" "subst" "4.12082E-6" "02327" "COL4A4_000579" "g.227895285T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227030569T>G" "" "VUS" "" "0000607595" "0" "30" "2" "227895359" "227895359" "subst" "0.0120739" "02327" "COL4A4_000366" "g.227895359A>T" "" "" "" "COL4A4(NM_000092.4):c.3818-45T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227030643A>T" "" "likely benign" "" "0000607596" "0" "10" "2" "227896652" "227896652" "subst" "0.473931" "02327" "COL4A4_000097" "g.227896652C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227031936C>G" "" "benign" "" "0000607597" "0" "70" "2" "227896660" "227896660" "subst" "0" "02327" "COL4A4_000448" "g.227896660C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227031944C>A" "" "likely pathogenic" "" "0000607598" "0" "70" "2" "227896661" "227896661" "subst" "0" "02327" "COL4A4_000580" "g.227896661C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227031945C>T" "" "likely pathogenic" "" "0000607599" "0" "70" "2" "227896703" "227896703" "del" "0" "02327" "COL4A4_000581" "g.227896703del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227031987del" "" "likely pathogenic" "" "0000607600" "0" "70" "2" "227896873" "227896873" "subst" "0" "02327" "COL4A4_000582" "g.227896873C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227032157C>G" "" "likely pathogenic" "" "0000607601" "0" "10" "2" "227896886" "227896886" "subst" "0.474305" "02327" "COL4A4_000094" "g.227896886C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227032170C>T" "" "benign" "" "0000607602" "0" "10" "2" "227896976" "227896976" "subst" "0.473076" "02327" "COL4A4_000092" "g.227896976C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227032260C>T" "" "benign" "" "0000607603" "0" "70" "2" "227898189" "227898189" "subst" "4.07578E-6" "02327" "COL4A4_000583" "g.227898189C>T" "" "" "" "COL4A4(NM_000092.4):c.3514G>A (p.G1172R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227033473C>T" "" "likely pathogenic" "" "0000607604" "0" "10" "2" "227906883" "227906883" "subst" "0.0040474" "02327" "COL4A4_000234" "g.227906883T>C" "" "" "" "COL4A4(NM_000092.4):c.3486A>G (p.P1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227042167T>C" "" "benign" "" "0000607605" "0" "30" "2" "227906915" "227906915" "subst" "0" "02327" "COL4A4_000584" "g.227906915G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227042199G>A" "" "likely benign" "" "0000607606" "0" "30" "2" "227907934" "227907934" "subst" "0.00147757" "02327" "COL4A4_000585" "g.227907934G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227043218G>A" "" "likely benign" "" "0000607607" "0" "30" "2" "227912170" "227912170" "subst" "0.000106051" "02327" "COL4A4_000586" "g.227912170A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227047454A>G" "" "likely benign" "" "0000607608" "0" "70" "2" "227912190" "227912190" "subst" "0" "02327" "COL4A4_000368" "g.227912190C>A" "" "" "" "COL4A4(NM_000092.4):c.3289+1G>T, COL4A4(NM_000092.5):c.3289+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227047474C>A" "" "likely pathogenic" "" "0000607609" "0" "30" "2" "227915735" "227915735" "subst" "0.000272117" "02327" "COL4A4_000587" "g.227915735A>G" "" "" "" "COL4A4(NM_000092.4):c.3108T>C (p.G1036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227051019A>G" "" "likely benign" "" "0000607610" "0" "70" "2" "227915754" "227915754" "subst" "0" "02327" "COL4A4_000588" "g.227915754C>G" "" "" "" "COL4A4(NM_000092.4):c.3089G>C (p.(Gly1030Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227051038C>G" "" "likely pathogenic" "" "0000607611" "0" "70" "2" "227915799" "227915799" "subst" "5.68597E-5" "02327" "COL4A4_000328" "g.227915799C>T" "" "" "" "COL4A4(NM_000092.4):c.3044G>A (p.G1015E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227051083C>T" "" "likely pathogenic" "" "0000607612" "0" "10" "2" "227915832" "227915832" "subst" "0.520569" "02327" "COL4A4_000080" "g.227915832G>A" "" "" "" "COL4A4(NM_000092.5):c.3011C>T (p.P1004L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227051116G>A" "" "benign" "" "0000607613" "0" "50" "2" "227915847" "227915847" "subst" "0.0115604" "02327" "COL4A4_000079" "g.227915847C>T" "" "" "" "COL4A4(NM_000092.4):c.2996G>A (p.G999E, p.(Gly999Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227051131C>T" "" "VUS" "" "0000607614" "0" "30" "2" "227916995" "227916995" "subst" "0.00115849" "02327" "COL4A4_000589" "g.227916995A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227052279A>T" "" "likely benign" "" "0000607615" "0" "30" "2" "227917082" "227917082" "subst" "0.00113714" "02327" "COL4A4_000229" "g.227917082T>G" "" "" "" "COL4A4(NM_000092.4):c.2907A>C (p.S969=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227052366T>G" "" "likely benign" "" "0000607616" "0" "30" "2" "227917090" "227917090" "subst" "0.00705472" "02327" "COL4A4_000074" "g.227917090T>C" "" "" "" "COL4A4(NM_000092.4):c.2899A>G (p.(Ile967Val), p.I967V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227052374T>C" "" "likely benign" "" "0000607617" "0" "30" "2" "227917131" "227917131" "subst" "0" "02327" "COL4A4_000590" "g.227917131A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227052415A>G" "" "likely benign" "" "0000607618" "0" "70" "2" "227919418" "227919418" "subst" "3.24968E-5" "02327" "COL4A4_000466" "g.227919418C>T" "" "" "" "COL4A4(NM_000092.4):c.2752G>A (p.G918R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227054702C>T" "" "likely pathogenic" "" "0000607619" "0" "90" "2" "227919425" "227919425" "dup" "0" "02327" "COL4A4_000591" "g.227919425dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227054709dup" "" "pathogenic" "" "0000607620" "0" "30" "2" "227919458" "227919458" "subst" "0.0113831" "02327" "COL4A4_000065" "g.227919458T>A" "" "" "" "COL4A4(NM_000092.4):c.2717-5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227054742T>A" "" "likely benign" "" "0000607621" "0" "30" "2" "227920743" "227920743" "subst" "0" "02327" "COL4A4_000592" "g.227920743A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227056027A>T" "" "likely benign" "" "0000607622" "0" "30" "2" "227920747" "227920747" "subst" "0.00378434" "02327" "COL4A4_000060" "g.227920747C>T" "" "" "" "COL4A4(NM_000092.4):c.2630G>A (p.R877Q, p.(Arg877Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227056031C>T" "" "likely benign" "" "0000607623" "0" "70" "2" "227920760" "227920760" "subst" "0" "02327" "COL4A4_000321" "g.227920760C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227056044C>T" "" "likely pathogenic" "" "0000607624" "0" "70" "2" "227922264" "227922264" "del" "0" "02327" "COL4A4_000593" "g.227922264del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227057548del" "" "likely pathogenic" "" "0000607625" "0" "70" "2" "227922265" "227922265" "del" "0" "02327" "COL4A4_000594" "g.227922265del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227057549del" "" "likely pathogenic" "" "0000607626" "0" "10" "2" "227922321" "227922321" "subst" "0.0846316" "02327" "COL4A4_000056" "g.227922321A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227057605A>G" "" "benign" "" "0000607627" "0" "30" "2" "227922404" "227922405" "del" "0" "02327" "COL4A4_000595" "g.227922404_227922405del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227057688_227057689del" "" "likely benign" "" "0000607628" "0" "10" "2" "227924137" "227924137" "subst" "0.00576697" "02327" "COL4A4_000054" "g.227924137T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227059421T>A" "" "benign" "" "0000607629" "0" "70" "2" "227924184" "227924184" "subst" "7.31012E-5" "02327" "COL4A4_000052" "g.227924184C>G" "" "" "" "COL4A4(NM_000092.4):c.2320G>C (p.G774R, p.(Gly774Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227059468C>G" "" "likely pathogenic" "" "0000607630" "0" "50" "2" "227924195" "227924195" "subst" "3.24892E-5" "02327" "COL4A4_000596" "g.227924195G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227059479G>A" "" "VUS" "" "0000607631" "0" "30" "2" "227924228" "227924228" "subst" "0.00653454" "02327" "COL4A4_000225" "g.227924228G>A" "" "" "" "COL4A4(NM_000092.4):c.2276C>T (p.P759L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227059512G>A" "" "likely benign" "" "0000607632" "0" "70" "2" "227924330" "227924330" "subst" "0" "02327" "COL4A4_000597" "g.227924330C>T" "" "" "" "COL4A4(NM_000092.4):c.2174G>A (p.G725D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227059614C>T" "" "likely pathogenic" "" "0000607633" "0" "30" "2" "227924354" "227924354" "subst" "0.0065181" "02327" "COL4A4_000371" "g.227924354A>C" "" "" "" "COL4A4(NM_000092.4):c.2165-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227059638A>C" "" "likely benign" "" "0000607634" "0" "10" "2" "227924360" "227924360" "del" "0" "02327" "COL4A4_000598" "g.227924360del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227059644del" "" "benign" "" "0000607635" "0" "10" "2" "227924365" "227924365" "dup" "0" "02327" "COL4A4_000599" "g.227924365dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227059649dup" "" "benign" "" "0000607636" "0" "30" "2" "227924836" "227924836" "subst" "0" "02327" "COL4A4_000600" "g.227924836A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227060120A>C" "" "likely benign" "" "0000607637" "0" "30" "2" "227924855" "227924855" "subst" "9.75262E-5" "02327" "COL4A4_000376" "g.227924855G>A" "" "" "" "COL4A4(NM_000092.4):c.2161C>T (p.P721S), COL4A4(NM_000092.5):c.2161C>T (p.(Pro721Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227060139G>A" "" "likely benign" "" "0000607638" "0" "30" "2" "227924872" "227924872" "subst" "0.000116398" "02327" "COL4A4_000224" "g.227924872G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227060156G>A" "" "likely benign" "" "0000607639" "0" "70" "2" "227927264" "227927264" "subst" "0" "02327" "COL4A4_000601" "g.227927264C>T" "" "" "" "COL4A4(NM_000092.4):c.2038G>A (p.G680S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227062548C>T" "" "likely pathogenic" "" "0000607640" "0" "70" "2" "227942637" "227942637" "subst" "0" "02327" "COL4A4_000602" "g.227942637C>G" "" "" "" "COL4A4(NM_000092.4):c.1960G>C (p.G654R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227077921C>G" "" "likely pathogenic" "" "0000607641" "0" "30" "2" "227942704" "227942704" "subst" "0.000644819" "02327" "COL4A4_000603" "g.227942704T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227077988T>C" "" "likely benign" "" "0000607642" "0" "90" "2" "227942749" "227942749" "del" "0" "01943" "COL4A4_000604" "g.227942749del" "" "" "" "COL4A4(NM_000092.4):c.1848delA (p.P617Lfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227078033del" "" "pathogenic" "" "0000607643" "0" "70" "2" "227942749" "227942749" "del" "0" "02327" "COL4A4_000604" "g.227942749del" "" "" "" "COL4A4(NM_000092.4):c.1848delA (p.P617Lfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227078033del" "" "likely pathogenic" "" "0000607644" "0" "30" "2" "227942764" "227942764" "subst" "0.00516493" "02327" "COL4A4_000043" "g.227942764A>G" "" "" "" "COL4A4(NM_000092.4):c.1833T>C (p.G611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227078048A>G" "" "likely benign" "" "0000607645" "0" "50" "2" "227942819" "227942819" "subst" "0" "02327" "COL4A4_000605" "g.227942819T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227078103T>C" "" "VUS" "" "0000607646" "0" "30" "2" "227945181" "227945181" "subst" "0.0052517" "02327" "COL4A4_000219" "g.227945181T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227080465T>C" "" "likely benign" "" "0000607647" "0" "90" "2" "227946867" "227946867" "dup" "0" "02327" "COL4A4_000606" "g.227946867dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227082151dup" "" "pathogenic" "" "0000607648" "0" "50" "2" "227946893" "227946893" "subst" "0.0273496" "02327" "COL4A4_000038" "g.227946893C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227082177C>G" "" "VUS" "" "0000607649" "0" "30" "2" "227953357" "227953357" "subst" "0" "02327" "COL4A4_000607" "g.227953357A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227088641A>G" "" "likely benign" "" "0000607650" "0" "90" "2" "227953368" "227953368" "subst" "0" "02327" "COL4A4_000608" "g.227953368C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227088652C>T" "" "pathogenic" "" "0000607651" "0" "90" "2" "227953394" "227953394" "subst" "0" "02327" "COL4A4_000265" "g.227953394C>T" "" "" "" "COL4A4(NM_000092.4):c.1598G>A (p.G533D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227088678C>T" "" "pathogenic" "" "0000607652" "0" "30" "2" "227953463" "227953463" "subst" "8.14087E-6" "02327" "COL4A4_000609" "g.227953463C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227088747C>T" "" "likely benign" "" "0000607653" "0" "10" "2" "227954599" "227954599" "subst" "0.540535" "02327" "COL4A4_000034" "g.227954599G>A" "" "" "" "COL4A4(NM_000092.5):c.1444C>T (p.P482S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227089883G>A" "" "benign" "" "0000607654" "0" "70" "2" "227954602" "227954602" "subst" "8.53249E-5" "02327" "COL4A4_000101" "g.227954602C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227089886C>T" "" "likely pathogenic" "" "0000607655" "0" "70" "2" "227954647" "227954647" "subst" "2.03212E-5" "02327" "COL4A4_000306" "g.227954647C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227089931C>T" "" "likely pathogenic" "" "0000607656" "0" "70" "2" "227954674" "227954674" "subst" "0" "02327" "COL4A4_000610" "g.227954674C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227089958C>T" "" "likely pathogenic" "" "0000607657" "0" "70" "2" "227958840" "227958840" "subst" "0" "02327" "COL4A4_000611" "g.227958840C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227094124C>T" "" "likely pathogenic" "" "0000607658" "0" "30" "2" "227959014" "227959014" "subst" "0.000381861" "02327" "COL4A4_000380" "g.227959014T>C" "" "" "" "COL4A4(NM_000092.4):c.1205-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227094298T>C" "" "likely benign" "" "0000607659" "0" "30" "2" "227963412" "227963412" "subst" "0.00263892" "02327" "COL4A4_000612" "g.227963412G>A" "" "" "" "COL4A4(NM_000092.4):c.1202C>T (p.A401V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227098696G>A" "" "likely benign" "" "0000607660" "0" "30" "2" "227966608" "227966608" "subst" "0.00652384" "02327" "COL4A4_000216" "g.227966608A>G" "" "" "" "COL4A4(NM_000092.4):c.948T>C (p.Y316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227101892A>G" "" "likely benign" "" "0000607661" "0" "70" "2" "227967540" "227967540" "subst" "4.06332E-6" "02327" "COL4A4_000613" "g.227967540C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227102824C>T" "" "likely pathogenic" "" "0000607662" "0" "50" "2" "227968701" "227968701" "subst" "3.66662E-5" "02327" "COL4A4_000614" "g.227968701T>C" "" "" "" "COL4A4(NM_000092.4):c.803A>G (p.(Tyr268Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227103985T>C" "" "VUS" "" "0000607663" "0" "30" "2" "227968754" "227968754" "subst" "0" "02327" "COL4A4_000615" "g.227968754C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227104038C>T" "" "likely benign" "" "0000607664" "0" "50" "2" "227973297" "227973297" "subst" "4.06243E-6" "02327" "COL4A4_000294" "g.227973297C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227108581C>T" "" "VUS" "" "0000607665" "0" "70" "2" "227973338" "227973338" "subst" "0" "02327" "COL4A4_000617" "g.227973338C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227108622C>G" "" "likely pathogenic" "" "0000607666" "0" "50" "2" "227973562" "227973562" "subst" "8.24165E-6" "02327" "COL4A4_000618" "g.227973562C>G" "" "" "" "COL4A4(NM_000092.4):c.680G>C (p.(Arg227Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227108846C>G" "" "VUS" "" "0000607667" "0" "30" "2" "227973576" "227973576" "subst" "0.00162281" "02327" "COL4A4_000215" "g.227973576C>T" "" "" "" "COL4A4(NM_000092.4):c.666G>A (p.P222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227108860C>T" "" "likely benign" "" "0000607668" "0" "10" "2" "227973623" "227973623" "subst" "0.604412" "02327" "COL4A4_000016" "g.227973623A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227108907A>G" "" "benign" "" "0000607669" "0" "70" "2" "227974004" "227974004" "subst" "0" "02327" "COL4A4_000619" "g.227974004T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227109288T>C" "" "likely pathogenic" "" "0000607670" "0" "30" "2" "227974069" "227974069" "subst" "0" "02327" "COL4A4_000620" "g.227974069C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227109353C>T" "" "likely benign" "" "0000607671" "0" "10" "2" "227976450" "227976450" "subst" "0.0124634" "02327" "COL4A4_000387" "g.227976450T>C" "" "" "" "COL4A4(NM_000092.4):c.559-21A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227111734T>C" "" "benign" "" "0000607672" "0" "30" "2" "227979226" "227979226" "subst" "0" "02327" "COL4A4_000621" "g.227979226G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227114510G>T" "" "likely benign" "" "0000607673" "0" "30" "2" "227979448" "227979448" "subst" "0.000517029" "02327" "COL4A4_000622" "g.227979448T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227114732T>C" "" "likely benign" "" "0000607674" "0" "10" "2" "227979452" "227979452" "subst" "0.0481624" "02327" "COL4A4_000623" "g.227979452A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227114736A>G" "" "benign" "" "0000607675" "0" "70" "2" "227984656" "227984656" "subst" "0" "02327" "COL4A4_000624" "g.227984656C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227119940C>T" "" "likely pathogenic" "" "0000607676" "0" "70" "2" "227985765" "227985765" "del" "0" "02327" "COL4A4_000625" "g.227985765del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227121049del" "" "likely pathogenic" "" "0000607677" "0" "30" "2" "227985859" "227985859" "subst" "0.00157051" "02327" "COL4A4_000246" "g.227985859T>C" "" "" "" "COL4A4(NM_000092.4):c.198A>G (p.P66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227121143T>C" "" "likely benign" "" "0000607678" "0" "30" "2" "227985862" "227985862" "subst" "0.000771223" "02327" "COL4A4_000006" "g.227985862A>G" "" "" "" "COL4A4(NM_000092.4):c.195T>C (p.G65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227121146A>G" "" "likely benign" "" "0000607679" "0" "50" "2" "228009244" "228009244" "subst" "0.00195184" "02327" "COL4A4_000004" "g.228009244T>C" "" "" "" "COL4A4(NM_000092.4):c.102A>G (p.Q34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227144528T>C" "" "VUS" "" "0000607680" "0" "30" "2" "228009286" "228009286" "subst" "0" "02327" "COL4A4_000626" "g.228009286C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227144570C>T" "" "likely benign" "" "0000607681" "0" "70" "2" "228012128" "228012128" "subst" "0" "02327" "COL4A4_000285" "g.228012128C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227147412C>T" "" "likely pathogenic" "" "0000607682" "0" "70" "2" "228012129" "228012129" "del" "0" "02327" "COL4A4_000627" "g.228012129del" "" "" "" "COL4A4(NM_000092.5):c.71+1del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227147413del" "" "likely pathogenic" "" "0000607683" "0" "10" "2" "228012183" "228012183" "subst" "0.0236704" "02327" "COL4A4_000002" "g.228012183A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227147467A>G" "" "benign" "" "0000607684" "0" "30" "2" "228012201" "228012201" "subst" "0.0244022" "02327" "COL4A4_000001" "g.228012201G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227147485G>A" "" "likely benign" "" "0000607685" "0" "10" "2" "228012214" "228012214" "subst" "0.00458619" "02327" "COL4A4_000628" "g.228012214A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227147498A>G" "" "benign" "" "0000607686" "0" "30" "2" "228029433" "228029433" "subst" "0.000379902" "02327" "COL4A3_000001" "g.228029433C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227164717C>T" "" "likely benign" "" "0000607687" "0" "30" "2" "228029475" "228029475" "subst" "0" "02327" "COL4A3_000622" "g.228029475G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227164759G>T" "" "likely benign" "" "0000607688" "0" "50" "2" "228029482" "228029505" "del" "0" "02327" "COL4A3_000003" "g.228029482_228029505del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227164766_227164789del" "" "VUS" "" "0000620978" "0" "30" "2" "227968781" "227968781" "del" "0" "01943" "COL4A4_000616" "g.227968781del" "" "" "" "COL4A4(NM_000092.4):c.736-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227104065del" "" "likely benign" "" "0000650477" "1" "50" "2" "227871200" "227871200" "subst" "0" "03575" "COL4A4_000629" "g.227871200C>T" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs11556632}" "Germline" "" "rs11556632" "0" "" "" "g.227006484C>T" "" "VUS" "" "0000650478" "1" "30" "2" "227915847" "227915847" "subst" "0.0115604" "03575" "COL4A4_000079" "g.227915847C>T" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs13027659}" "Germline" "" "rs13027659" "0" "" "" "g.227051131C>T" "" "likely benign" "" "0000654577" "0" "10" "2" "227892737" "227892737" "dup" "0" "01943" "COL4A4_000630" "g.227892737dup" "" "" "" "COL4A4(NM_000092.4):c.3974-4dupT, COL4A4(NM_000092.5):c.3974-4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227028021dup" "" "benign" "" "0000654578" "0" "10" "2" "227920747" "227920747" "subst" "0.00378434" "02326" "COL4A4_000060" "g.227920747C>T" "" "" "" "COL4A4(NM_000092.4):c.2630G>A (p.R877Q, p.(Arg877Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.227056031C>T" "" "benign" "" "0000660429" "11" "90" "2" "227979405" "227979405" "subst" "0" "02367" "COL4A4_000632" "g.227979405G>C" "" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000660434" "0" "90" "2" "227945248" "227945248" "del" "0" "02367" "COL4A4_000631" "g.227945248del" "" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Unknown" "" "rs772659513" "0" "" "" "" "" "pathogenic (dominant)" "" "0000660435" "0" "90" "2" "227919337" "227919337" "subst" "0" "02367" "COL4A4_000406" "g.227919337C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.227054621C>T" "" "pathogenic" "" "0000676534" "0" "90" "2" "227922317" "227922317" "del" "0" "02326" "COL4A4_000059" "g.227922317del" "" "" "" "COL4A4(NM_000092.4):c.2385delG (p.P796Qfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000676535" "0" "50" "2" "227968684" "227968684" "subst" "0" "01943" "COL4A4_000633" "g.227968684T>C" "" "" "" "COL4A4(NM_000092.4):c.816+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684744" "0" "30" "2" "227920747" "227920747" "subst" "0.00378434" "00004" "COL4A4_000060" "g.227920747C>T" "frequency 0.038" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.227056031C>T" "" "likely benign" "" "0000688671" "0" "90" "2" "227872828" "227872828" "subst" "0.000142693" "02326" "COL4A4_000117" "g.227872828G>A" "" "" "" "COL4A4(NM_000092.4):c.4715C>T (p.P1572L), COL4A4(NM_000092.5):c.4715C>T (p.(Pro1572Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688672" "0" "30" "2" "227890504" "227890504" "subst" "0.00208501" "02326" "COL4A4_000634" "g.227890504A>G" "" "" "" "COL4A4(NM_000092.4):c.4090+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688673" "0" "90" "2" "227919337" "227919337" "subst" "0" "02326" "COL4A4_000395" "g.227919337C>A" "" "" "" "COL4A4(NM_000092.4):c.2833G>T (p.G945*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688674" "0" "70" "2" "227979413" "227979413" "subst" "0" "02327" "COL4A4_000635" "g.227979413C>G" "" "" "" "COL4A4(NM_000092.4):c.490-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000712540" "0" "50" "2" "227876894" "227876894" "subst" "0" "03611" "COL4A4_000636" "g.227876894A>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PM3_P, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.227012178T>C" "" "VUS" "ACMG" "0000718552" "0" "10" "2" "227871797" "227871797" "subst" "0" "02327" "COL4A4_000638" "g.227871797G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718553" "0" "70" "2" "227872788" "227872788" "dup" "0" "02327" "COL4A4_000639" "g.227872788dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718554" "0" "10" "2" "227886773" "227886773" "subst" "0.477807" "02327" "COL4A4_000110" "g.227886773A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718555" "0" "30" "2" "227886785" "227886785" "subst" "0.000845096" "02326" "COL4A4_000254" "g.227886785T>A" "" "" "" "COL4A4(NM_000092.4):c.4195A>T (p.M1399L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718556" "0" "10" "2" "227892498" "227892498" "subst" "0" "02327" "COL4A4_000640" "g.227892498A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718557" "0" "10" "2" "227897076" "227897076" "subst" "0" "02327" "COL4A4_000641" "g.227897076A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718558" "0" "10" "2" "227912331" "227912331" "subst" "0" "02327" "COL4A4_000086" "g.227912331G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718559" "0" "10" "2" "227915601" "227915601" "subst" "0" "02327" "COL4A4_000083" "g.227915601G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718560" "0" "30" "2" "227917112" "227917112" "subst" "0.00100326" "02327" "COL4A4_000072" "g.227917112G>A" "" "" "" "COL4A4(NM_000092.4):c.2877C>T (p.P959=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718561" "0" "10" "2" "227917240" "227917240" "subst" "0" "02327" "COL4A4_000642" "g.227917240C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718562" "0" "10" "2" "227917270" "227917270" "subst" "0" "02327" "COL4A4_000643" "g.227917270T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718563" "0" "70" "2" "227920706" "227920706" "subst" "0" "02326" "COL4A4_000644" "g.227920706C>T" "" "" "" "COL4A4(NM_000092.4):c.2671G>A (p.G891S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718564" "0" "10" "2" "227922104" "227922104" "subst" "0" "02327" "COL4A4_000645" "g.227922104T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718565" "0" "10" "2" "227922109" "227922109" "subst" "0.625513" "02327" "COL4A4_000646" "g.227922109T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718566" "0" "10" "2" "227924774" "227924774" "subst" "0" "02327" "COL4A4_000647" "g.227924774C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718567" "0" "10" "2" "227942519" "227942519" "subst" "0" "02327" "COL4A4_000648" "g.227942519A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718568" "0" "90" "2" "227963496" "227963496" "subst" "0" "02326" "COL4A4_000649" "g.227963496C>G" "" "" "" "COL4A4(NM_000092.4):c.1118G>C (p.G373A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718569" "0" "30" "2" "227964348" "227964348" "subst" "1.21878E-5" "02326" "COL4A4_000650" "g.227964348G>A" "" "" "" "COL4A4(NM_000092.4):c.1087C>T (p.L363F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718570" "0" "10" "2" "227966148" "227966148" "subst" "0" "02327" "COL4A4_000651" "g.227966148C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718571" "0" "10" "2" "227973410" "227973410" "subst" "0" "02327" "COL4A4_000017" "g.227973410C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718572" "0" "10" "2" "227973873" "227973873" "subst" "0" "02327" "COL4A4_000015" "g.227973873T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718573" "0" "10" "2" "227973892" "227973892" "subst" "0.159187" "02327" "COL4A4_000652" "g.227973892T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718574" "0" "10" "2" "227974113" "227974113" "subst" "0" "02327" "COL4A4_000012" "g.227974113A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000788034" "0" "90" "2" "227942609" "227945266" "del" "0" "04087" "COL4A4_000654" "g.(227927315_227942609)_(227945266_227946830)del" "" "" "" "deletion ex24-25" "" "Germline" "?" "" "0" "" "" "g.(227062599_227077893)_(227080550_227082114)del" "" "likely pathogenic" "ACMG" "0000788035" "0" "90" "2" "227920687" "227920687" "subst" "0" "04087" "COL4A4_000064" "g.227920687C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000788036" "0" "90" "2" "227896735" "227896735" "subst" "6.50095E-5" "04087" "COL4A4_000549" "g.227896735C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000788037" "0" "90" "2" "227896691" "227896691" "subst" "0" "04087" "COL4A4_000653" "g.227896691G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790073" "21" "90" "2" "227890516" "227890516" "subst" "0" "04087" "COL4A4_000655" "g.227890516A>C" "" "" "" "" "" "Germline" "no" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000795616" "3" "70" "2" "227945161" "227945161" "del" "0" "00000" "COL4A4_000041" "g.227945161del" "" "{PMID:Nair 2018:30293248}" "" "NM_000092.4:c.1802del; p.P601Qfs" "" "Unknown" "?" "" "0" "" "" "g.227080445del" "" "likely pathogenic" "" "0000800433" "0" "50" "2" "227872069" "227872069" "subst" "0.000125889" "02326" "COL4A4_000124" "g.227872069C>T" "" "" "" "COL4A4(NM_000092.4):c.5045G>A (p.R1682Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800434" "0" "70" "2" "227875056" "227875056" "subst" "0" "02327" "COL4A4_000664" "g.227875056G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800435" "0" "30" "2" "227875221" "227875221" "del" "0" "01943" "COL4A4_000438" "g.227875221del" "" "" "" "COL4A4(NM_000092.4):c.4334-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800436" "0" "30" "2" "227875221" "227875221" "del" "0" "02326" "COL4A4_000438" "g.227875221del" "" "" "" "COL4A4(NM_000092.4):c.4334-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800437" "0" "30" "2" "227877028" "227877028" "subst" "0.00191615" "02326" "COL4A4_000573" "g.227877028A>G" "" "" "" "COL4A4(NM_000092.4):c.4217-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800438" "0" "30" "2" "227895304" "227895304" "subst" "1.275E-5" "01943" "COL4A4_000665" "g.227895304C>T" "" "" "" "COL4A4(NM_000092.4):c.3828G>A (p.G1276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800439" "0" "70" "2" "227896864" "227896864" "subst" "0" "02326" "COL4A4_000394" "g.227896864C>T" "" "" "" "COL4A4(NM_000092.4):c.3706G>A (p.G1236R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800440" "0" "70" "2" "227907828" "227907828" "subst" "0" "02327" "COL4A4_000666" "g.227907828C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800441" "0" "30" "2" "227915735" "227915735" "subst" "0.000272117" "02326" "COL4A4_000587" "g.227915735A>G" "" "" "" "COL4A4(NM_000092.4):c.3108T>C (p.G1036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800442" "0" "90" "2" "227915822" "227915822" "subst" "0" "02326" "COL4A4_000667" "g.227915822G>T" "" "" "" "COL4A4(NM_000092.4):c.3021C>A (p.Y1007*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800443" "0" "30" "2" "227920748" "227920748" "subst" "8.12876E-5" "01943" "COL4A4_000227" "g.227920748G>A" "" "" "" "COL4A4(NM_000092.4):c.2629C>T (p.R877W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800444" "0" "50" "2" "227924312" "227924312" "subst" "0" "02327" "COL4A4_000668" "g.227924312C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800445" "0" "70" "2" "227924330" "227924330" "subst" "0" "02326" "COL4A4_000597" "g.227924330C>T" "" "" "" "COL4A4(NM_000092.4):c.2174G>A (p.G725D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800446" "0" "50" "2" "227953394" "227953394" "subst" "0" "01943" "COL4A4_000265" "g.227953394C>T" "" "" "" "COL4A4(NM_000092.4):c.1598G>A (p.G533D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800447" "0" "90" "2" "227964390" "227964390" "subst" "4.06398E-6" "02326" "COL4A4_000515" "g.227964390G>A" "" "" "" "COL4A4(NM_000092.4):c.1045C>T (p.R349*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800448" "0" "50" "2" "228004879" "228004879" "subst" "4.46777E-5" "01943" "COL4A4_000669" "g.228004879G>A" "" "" "" "COL4A4(NM_000092.4):c.190C>T (p.R64W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000827866" "0" "10" "2" "227920747" "227920747" "subst" "0.00378434" "00000" "COL4A4_000060" "g.227920747C>T" "" "{PMID:Zacchia 2021:33964006}" "" "COL4A4 c.G2630A, p.R877Q" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.227056031C>T" "" "benign" "ACMG" "0000827867" "0" "50" "2" "227973562" "227973562" "subst" "8.24165E-5" "00000" "COL4A4_000384" "g.227973562C>T" "" "{PMID:Zacchia 2021:33964006}" "" "COL4A4 c.680G>A, p.R227H" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.227108846C>T" "" "VUS" "ACMG" "0000836725" "21" "90" "2" "228009300" "228009303" "del" "0" "00006" "COL4A4_000670" "g.228009300_228009303del" "" "{PMID:Wang 2021:34508137}" "" "c.72-26_72-23delTAAT" "ACMG PVS1 PM2 PP4; might affect branch point" "Germline" "" "" "0" "" "" "g.227144584_227144587del" "" "pathogenic (recessive)" "ACMG" "0000836726" "21" "10" "2" "227952799" "227952799" "subst" "0" "00006" "COL4A4_000671" "g.227952799T>C" "" "{PMID:Wang 2021:34508137}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000836727" "21" "10" "2" "227942951" "227942951" "subst" "0" "00006" "COL4A4_000672" "g.227942951T>C" "" "{PMID:Wang 2021:34508137}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000836728" "11" "90" "2" "227952667" "227952667" "subst" "0" "00006" "COL4A4_000673" "g.227952667A>T" "" "{PMID:Wang 2021:34508137}" "" "" "ACMG PVS1 PM2 PP4; variant creates intronic splice donor site" "Germline" "" "" "0" "" "" "g.227087951A>T" "" "pathogenic (recessive)" "ACMG" "0000839856" "1" "90" "2" "227958979" "227958979" "subst" "0" "04087" "COL4A4_000508" "g.227958979C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000839857" "21" "90" "2" "227920687" "227920687" "subst" "0" "04087" "COL4A4_000064" "g.227920687C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000839858" "10" "90" "2" "227915821" "227915821" "subst" "2.84303E-5" "04087" "COL4A4_000462" "g.227915821C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000839871" "20" "90" "2" "227896736" "227896736" "subst" "0" "04087" "COL4A4_000337" "g.227896736C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000839872" "10" "90" "2" "227886772" "227886772" "dup" "0" "04087" "COL4A4_000440" "g.227886772dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.227022056dup" "" "likely pathogenic" "ACMG" "0000849764" "0" "30" "2" "227872783" "227872783" "subst" "0.00203687" "02326" "COL4A4_000430" "g.227872783G>C" "" "" "" "COL4A4(NM_000092.4):c.4760C>G (p.P1587R, p.(Pro1587Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849765" "0" "30" "2" "227872932" "227872932" "subst" "4.0661E-6" "01943" "COL4A4_000675" "g.227872932G>A" "" "" "" "COL4A4(NM_000092.4):c.4611C>T (p.N1537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849766" "0" "10" "2" "227895169" "227895169" "subst" "0.00156602" "02326" "COL4A4_000237" "g.227895169A>G" "" "" "" "COL4A4(NM_000092.4):c.3963T>C (p.D1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849767" "0" "30" "2" "227917082" "227917082" "subst" "0.00113714" "02326" "COL4A4_000229" "g.227917082T>G" "" "" "" "COL4A4(NM_000092.4):c.2907A>C (p.S969=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849768" "0" "30" "2" "227927236" "227927236" "subst" "0.000361633" "02326" "COL4A4_000678" "g.227927236T>C" "" "" "" "COL4A4(NM_000092.4):c.2056+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849769" "0" "90" "2" "227942749" "227942749" "del" "0" "02326" "COL4A4_000604" "g.227942749del" "" "" "" "COL4A4(NM_000092.4):c.1848delA (p.P617Lfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000849770" "0" "90" "2" "227945157" "227945157" "subst" "0" "02327" "COL4A4_000679" "g.227945157A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000849771" "0" "50" "2" "227953478" "227953478" "subst" "4.07378E-6" "02326" "COL4A4_000681" "g.227953478G>A" "" "" "" "COL4A4(NM_000092.4):c.1514C>T (p.P505L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849772" "0" "30" "2" "227958857" "227958857" "subst" "0.000498961" "02326" "COL4A4_000682" "g.227958857G>A" "" "" "" "COL4A4(NM_000092.4):c.1353C>T (p.G451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849773" "0" "70" "2" "227963496" "227963496" "subst" "8.16993E-6" "02327" "COL4A4_000510" "g.227963496C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000849774" "0" "30" "2" "227985862" "227985862" "subst" "0.000771223" "02326" "COL4A4_000006" "g.227985862A>G" "" "" "" "COL4A4(NM_000092.4):c.195T>C (p.G65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849775" "0" "10" "2" "228012119" "228012119" "subst" "0.000154416" "02326" "COL4A4_000683" "g.228012119G>A" "" "" "" "COL4A4(NM_000092.4):c.71+10C>T, COL4A4(NM_000092.5):c.71+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858385" "0" "50" "2" "227872924" "227872924" "subst" "0" "02326" "COL4A4_000674" "g.227872924G>T" "" "" "" "COL4A4(NM_000092.4):c.4619C>A (p.S1540Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858386" "0" "30" "2" "227895329" "227895329" "subst" "0.000323016" "02326" "COL4A4_000676" "g.227895329G>A" "" "" "" "COL4A4(NM_000092.4):c.3818-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858387" "0" "50" "2" "227915799" "227915799" "subst" "5.68597E-5" "01943" "COL4A4_000328" "g.227915799C>T" "" "" "" "COL4A4(NM_000092.4):c.3044G>A (p.G1015E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858388" "0" "30" "2" "227919380" "227919380" "subst" "2.84278E-5" "02326" "COL4A4_000677" "g.227919380G>A" "" "" "" "COL4A4(NM_000092.4):c.2790C>T (p.G930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858389" "0" "90" "2" "227953367" "227953367" "subst" "0" "02326" "COL4A4_000680" "g.227953367A>C" "" "" "" "COL4A4(NM_000092.4):c.1623+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858390" "0" "90" "2" "228009262" "228009267" "del" "0" "02326" "COL4A4_000264" "g.228009262_228009267del" "" "" "" "COL4A4(NM_000092.4):c.81_86delACTCAT (p.I29_L30del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000869079" "0" "70" "2" "227915821" "227915821" "subst" "2.84303E-5" "00006" "COL4A4_000462" "g.227915821C>T" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PM1, PM2, PP2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.227051105C>T" "" "likely pathogenic (recessive)" "" "0000869986" "21" "70" "2" "227976393" "227976393" "subst" "0" "01164" "COL4A4_000684" "g.227976393C>T" "" "" "" "" "ACMG: PVS1, PM2_SUP, PP1\r\nmother and brother affected and carry the variant" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000873460" "0" "70" "2" "227946904" "227946904" "subst" "0" "00000" "COL4A4_000689" "g.227946904C>T" "115" "{PMID:Sun 2018:30076350}" "" "COL4A4(NM_000092.4):c.1624-1G>A; TSC1(NM_000368.4):c.1460C>G(p.S487C)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.227082188C>T" "" "likely pathogenic" "" "0000873501" "0" "70" "2" "227876897" "227876897" "subst" "0" "00000" "COL4A4_000686" "g.227876897C>T" "143" "{PMID:Sun 2018:30076350}" "" "COL4A4(NM_000092.4):c.4333G>A(p.G1445R)/c.1505delC(p.P502Lfs*151)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.227012181C>T" "" "likely pathogenic" "" "0000873502" "0" "70" "2" "227953492" "227953492" "del" "0" "00000" "COL4A4_000690" "g.227953492del" "143" "{PMID:Sun 2018:30076350}" "" "COL4A4(NM_000092.4):c.4333G>A(p.G1445R)/c.1505delC(p.P502Lfs*151)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.227088776del" "" "likely pathogenic" "" "0000873515" "0" "70" "2" "227886767" "227886767" "dup" "0" "00000" "COL4A4_000687" "g.227886767dup" "156" "{PMID:Sun 2018:30076350}" "" "COL4A4 (NM_000092.4):c.4214_4215insC(p.G1406Rfs*27)" "single heterozygous variant in a recessive disease gene" "Germline/De novo (untested)" "?" "" "0" "" "" "g.227022051dup" "" "likely pathogenic" "" "0000873517" "0" "70" "2" "227896923" "227896923" "subst" "0" "00000" "COL4A4_000688" "g.227896923C>G" "157" "{PMID:Sun 2018:30076350}" "" "INF2 (NM_022489.3):c.1978C>T(p.R660W); COL4A4 (NM_000092.4):c.3647G>C(p.G1216A); CFH(NM_000186.3):c.3566T>G(p.L1189R)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.227032207C>G" "" "likely pathogenic" "" "0000873581" "0" "70" "2" "227967504" "227967504" "subst" "0" "00000" "COL4A4_000691" "g.227967504C>T" "200" "{PMID:Sun 2018:30076350}" "" "GSN(NM_000177.4):c.444G>T(p.E148D); COL4A4(NM_000092.4):c.930+1G>A; TNXB(NM_019105.6):c.8201_8202insC(p.E2735Terfs*1)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.227102788C>T" "" "likely pathogenic" "" "0000873632" "0" "70" "2" "227924193" "227924193" "subst" "4.06111E-6" "00000" "COL4A4_000479" "g.227924193C>T" "235" "{PMID:Sun 2018:30076350}" "" "COL4A4(NM_000092.4):c.2311G>A(p.G771R)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.227059477C>T" "" "likely pathogenic" "" "0000873633" "0" "70" "2" "227876895" "227876895" "subst" "4.06217E-6" "00000" "COL4A4_000685" "g.227876895A>G" "236" "{PMID:Sun 2018:30076350}" "" "COL4A4(NM_000092.4):c.4333+2T>C" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.227012179A>G" "" "likely pathogenic" "" "0000873638" "0" "70" "2" "227967860" "227967860" "subst" "0" "00000" "COL4A4_000692" "g.227967860C>A" "239" "{PMID:Sun 2018:30076350}" "" "COL4A3(NM_000091.4):c.4664C>T( p.A1555V); COL4A4(NM_000092.4):c.870G>T(p.K290N )" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.227103144C>A" "" "likely pathogenic" "" "0000879972" "0" "70" "2" "227979340" "227979343" "del" "0" "00006" "COL4A4_000693" "g.227979340_227979343del" "" "{PMID:He 2022:35121647}" "" "" "ACMG PM2, PM4, PP1, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.227114624_227114627del" "" "likely pathogenic" "ACMG" "0000884964" "0" "90" "2" "227872248" "227872248" "subst" "0" "02326" "COL4A4_000566" "g.227872248G>T" "" "" "" "COL4A4(NM_000092.4):c.4866C>A (p.C1622*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000884965" "0" "30" "2" "227872812" "227872812" "subst" "0.00213442" "02326" "COL4A4_000118" "g.227872812C>T" "" "" "" "COL4A4(NM_000092.4):c.4731G>A (p.A1577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884966" "0" "50" "2" "227872865" "227872865" "subst" "6.92075E-5" "02327" "COL4A4_000364" "g.227872865G>A" "" "" "" "COL4A4(NM_000092.4):c.4678C>T (p.R1560C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884967" "0" "30" "2" "227872869" "227872869" "subst" "0.000370524" "02326" "COL4A4_000350" "g.227872869C>T" "" "" "" "COL4A4(NM_000092.4):c.4674G>A (p.A1558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884968" "0" "50" "2" "227875134" "227875134" "subst" "2.03317E-5" "02326" "COL4A4_000346" "g.227875134G>T" "" "" "" "COL4A4(NM_000092.4):c.4417C>A (p.Q1473K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884969" "0" "30" "2" "227886795" "227886795" "subst" "0.000341366" "02326" "COL4A4_000241" "g.227886795C>T" "" "" "" "COL4A4(NM_000092.4):c.4185G>A (p.G1395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884970" "0" "30" "2" "227886828" "227886828" "subst" "0.000589637" "02326" "COL4A4_000240" "g.227886828C>T" "" "" "" "COL4A4(NM_000092.4):c.4152G>A (p.A1384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884971" "0" "10" "2" "227895261" "227895261" "subst" "0.00165023" "02326" "COL4A4_000236" "g.227895261G>C" "" "" "" "COL4A4(NM_000092.4):c.3871C>G (p.P1291A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000884972" "0" "50" "2" "227896771" "227896771" "subst" "0" "02327" "COL4A4_000405" "g.227896771C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884973" "0" "30" "2" "227919374" "227919374" "subst" "0.0030986" "02326" "COL4A4_000228" "g.227919374C>T" "" "" "" "COL4A4(NM_000092.4):c.2796G>A (p.K932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884974" "0" "30" "2" "227919379" "227919379" "subst" "0.00312297" "02326" "COL4A4_000068" "g.227919379C>T" "" "" "" "COL4A4(NM_000092.4):c.2791G>A (p.A931T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884975" "0" "30" "2" "227920748" "227920748" "subst" "8.12876E-5" "02326" "COL4A4_000227" "g.227920748G>A" "" "" "" "COL4A4(NM_000092.4):c.2629C>T (p.R877W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884976" "0" "30" "2" "227924114" "227924114" "subst" "8.93517E-5" "02326" "COL4A4_000694" "g.227924114C>T" "" "" "" "COL4A4(NM_000092.4):c.2383+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884977" "0" "90" "2" "227927245" "227927245" "subst" "0" "02327" "COL4A4_000695" "g.227927245C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000884978" "0" "70" "2" "227927264" "227927264" "subst" "0" "02326" "COL4A4_000601" "g.227927264C>T" "" "" "" "COL4A4(NM_000092.4):c.2038G>A (p.G680S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000884979" "0" "90" "2" "227954610" "227954610" "subst" "0" "02326" "COL4A4_000033" "g.227954610C>T" "" "" "" "COL4A4(NM_000092.4):c.1433G>A (p.G478E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000884980" "0" "50" "2" "227963534" "227963534" "subst" "0" "02326" "COL4A4_000696" "g.227963534A>C" "" "" "" "COL4A4(NM_000092.4):c.1100-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884981" "0" "90" "2" "227979352" "227979352" "del" "0" "02327" "COL4A4_000697" "g.227979352del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000884982" "0" "30" "2" "227979395" "227979395" "subst" "0.000678542" "02326" "COL4A4_000698" "g.227979395C>G" "" "" "" "COL4A4(NM_000092.4):c.507G>C (p.K169N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884983" "0" "30" "2" "228012150" "228012150" "subst" "0.000824747" "02326" "COL4A4_000213" "g.228012150T>C" "" "" "" "COL4A4(NM_000092.4):c.50A>G (p.K17R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884984" "0" "30" "2" "228029513" "228029513" "subst" "0.000809091" "02326" "COL4A3_000179" "g.228029513C>G" "" "" "" "COL4A3(NM_000091.4):c.71C>G (p.A24G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884985" "0" "30" "2" "228029515" "228029515" "subst" "0.00144312" "02326" "COL4A3_000180" "g.228029515C>T" "" "" "" "COL4A3(NM_000091.4):c.73C>T (p.P25S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911607" "0" "90" "2" "227872789" "227872789" "dup" "0" "02326" "COL4A4_000699" "g.227872789dup" "" "" "" "COL4A4(NM_000092.4):c.4754dupT (p.C1588Mfs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911608" "0" "50" "2" "227890526" "227890526" "subst" "0" "02326" "COL4A4_000575" "g.227890526C>T" "" "" "" "COL4A4(NM_000092.4):c.4082G>A (p.G1361D), COL4A4(NM_000092.5):c.4082G>A (p.(Gly1361Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911609" "0" "90" "2" "227895199" "227895199" "subst" "4.06379E-6" "02326" "COL4A4_000445" "g.227895199G>C" "" "" "" "COL4A4(NM_000092.4):c.3933C>G (p.Y1311*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911610" "0" "70" "2" "227898189" "227898189" "subst" "4.07578E-6" "02326" "COL4A4_000583" "g.227898189C>T" "" "" "" "COL4A4(NM_000092.4):c.3514G>A (p.G1172R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911611" "0" "10" "2" "227912248" "227912248" "subst" "0.00142051" "02326" "COL4A4_000231" "g.227912248C>T" "" "" "" "COL4A4(NM_000092.4):c.3232G>A (p.A1078T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911612" "0" "30" "2" "227917112" "227917112" "subst" "0.00100326" "02326" "COL4A4_000072" "g.227917112G>A" "" "" "" "COL4A4(NM_000092.4):c.2877C>T (p.P959=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911613" "0" "30" "2" "227919468" "227919468" "subst" "0.000453234" "02326" "COL4A4_000700" "g.227919468G>T" "" "" "" "COL4A4(NM_000092.4):c.2717-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911614" "0" "50" "2" "227953532" "227953532" "subst" "0" "02327" "COL4A4_000701" "g.227953532C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911615" "0" "30" "2" "227958939" "227958939" "subst" "4.07246E-6" "02327" "COL4A4_000561" "g.227958939A>G" "" "" "" "COL4A4(NM_000092.4):c.1271T>C (p.I424T, p.(Ile424Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911617" "0" "30" "2" "227967506" "227967506" "subst" "0.00018282" "02326" "COL4A4_000297" "g.227967506C>T" "" "" "" "COL4A4(NM_000092.4):c.929G>A (p.R310Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920149" "0" "50" "2" "227914850" "227914850" "subst" "0" "01741" "COL4A4_000703" "g.227914850G>C" "" "" "" "" "variant in heterozygous state without a second variant (pathogenic or of unknown significance) in COL4A4" "Germline/De novo (untested)" "" "" "0" "" "" "g.227050134G>C" "" "VUS" "" "0000920748" "0" "10" "2" "227979533" "227979533" "subst" "0" "00006" "COL4A4_000010" "g.227979533A>C" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs12465531" "0" "" "" "g.227114817A>C" "" "benign" "" "0000920749" "0" "10" "2" "227974113" "227974113" "subst" "0" "00006" "COL4A4_000012" "g.227974113A>G" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs6436654" "0" "" "" "g.227109397A>G" "" "benign" "" "0000920750" "0" "10" "2" "227973892" "227973892" "subst" "0.159187" "00006" "COL4A4_000652" "g.227973892T>C" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs73082223" "0" "" "" "g.227109176T>C" "" "benign" "" "0000920751" "0" "10" "2" "227973878" "227973878" "subst" "0" "00006" "COL4A4_000709" "g.227973878C>T" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs59938187" "0" "" "" "g.227109162C>T" "" "benign" "" "0000920752" "0" "10" "2" "227973873" "227973873" "subst" "0" "00006" "COL4A4_000015" "g.227973873T>C" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs58363082" "0" "" "" "g.227109157T>C" "" "benign" "" "0000920753" "0" "10" "2" "227973623" "227973623" "subst" "0.604412" "00006" "COL4A4_000016" "g.227973623A>G" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs12475686" "0" "" "" "g.227108907A>G" "" "benign" "" "0000920754" "0" "10" "2" "227967601" "227967624" "del" "0" "00006" "COL4A4_000708" "g.227967601_227967624del" "" "{PMID:Plevova 2023:36844206}" "" "871-37_60del23" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "" "0" "" "" "g.227102885_227102908del" "" "benign" "" "0000920755" "0" "10" "2" "227954599" "227954599" "subst" "0.540535" "00006" "COL4A4_000034" "g.227954599G>A" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs2229814" "0" "" "" "g.227089883G>A" "" "benign" "" "0000920756" "0" "10" "2" "227922109" "227922109" "subst" "0.625513" "00006" "COL4A4_000646" "g.227922109T>A" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs7567796" "0" "" "" "g.227057393T>A" "" "benign" "" "0000920757" "0" "10" "2" "227922104" "227922104" "subst" "0" "00006" "COL4A4_000645" "g.227922104T>C" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs7567789" "0" "" "" "g.227057388T>C" "" "benign" "" "0000920758" "0" "10" "2" "227922015" "227922015" "subst" "0" "00006" "COL4A4_000707" "g.227922015A>G" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs4566357" "0" "" "" "g.227057299A>G" "" "benign" "" "0000920759" "0" "10" "2" "227917270" "227917270" "subst" "0" "00006" "COL4A4_000643" "g.227917270T>C" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs3769643" "0" "" "" "g.227052554T>C" "" "benign" "" "0000920760" "0" "10" "2" "227917240" "227917240" "subst" "0" "00006" "COL4A4_000642" "g.227917240C>G" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs3769644" "0" "" "" "g.227052524C>G" "" "benign" "" "0000920761" "0" "10" "2" "227915832" "227915832" "subst" "0.520569" "00006" "COL4A4_000080" "g.227915832G>A" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs1800517" "0" "" "" "g.227051116G>A" "" "benign" "" "0000920762" "0" "10" "2" "227914869" "227914869" "subst" "0" "00006" "COL4A4_000706" "g.227914869A>G" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "" "0" "" "" "g.227050153A>G" "" "benign" "" "0000920763" "0" "10" "2" "227914655" "227914655" "subst" "0" "00006" "COL4A4_000085" "g.227914655C>G" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs2272203" "0" "" "" "g.227049939C>G" "" "benign" "" "0000920764" "0" "10" "2" "227914625" "227914625" "subst" "0" "00006" "COL4A4_000705" "g.227914625T>C" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs2272202" "0" "" "" "g.227049909T>C" "" "benign" "" "0000920765" "0" "10" "2" "227912331" "227912331" "subst" "0" "00006" "COL4A4_000086" "g.227912331G>A" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs2272200" "0" "" "" "g.227047615G>A" "" "benign" "" "0000920766" "0" "10" "2" "227896976" "227896976" "subst" "0.473076" "00006" "COL4A4_000092" "g.227896976C>T" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs10203363" "0" "" "" "g.227032260C>T" "" "benign" "" "0000920767" "0" "10" "2" "227896886" "227896886" "subst" "0.474305" "00006" "COL4A4_000094" "g.227896886C>T" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs2229812" "0" "" "" "g.227032170C>T" "" "benign" "" "0000920768" "0" "10" "2" "227896652" "227896652" "subst" "0.473931" "00006" "COL4A4_000097" "g.227896652C>G" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs13423714" "0" "" "" "g.227031936C>G" "" "benign" "" "0000920769" "0" "10" "2" "227895125" "227895125" "subst" "0.475141" "00006" "COL4A4_000098" "g.227895125A>G" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs1917127" "0" "" "" "g.227030409A>G" "" "benign" "" "0000920770" "0" "10" "2" "227892619" "227892619" "subst" "0.472301" "00006" "COL4A4_000100" "g.227892619C>T" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs2228556" "0" "" "" "g.227027903C>T" "" "benign" "" "0000920771" "0" "10" "2" "227886925" "227886925" "subst" "0.460684" "00006" "COL4A4_000104" "g.227886925C>T" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs3752896" "0" "" "" "g.227022209C>T" "" "benign" "" "0000920772" "0" "10" "2" "227877037" "227877037" "subst" "0.478293" "00006" "COL4A4_000111" "g.227877037G>A" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs3752896" "0" "" "" "g.227012321G>A" "" "benign" "" "0000920773" "0" "10" "2" "227874957" "227874957" "subst" "0" "00006" "COL4A4_000704" "g.227874957C>T" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs4423583" "0" "" "" "g.227010241C>T" "" "benign" "" "0000920774" "0" "10" "2" "227873028" "227873028" "subst" "0.4674" "00006" "COL4A4_000115" "g.227873028A>G" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs13419076" "0" "" "" "g.227008312A>G" "" "benign" "" "0000920775" "0" "10" "2" "227872995" "227872995" "subst" "0.557962" "00006" "COL4A4_000116" "g.227872995T>C" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs2228555" "0" "" "" "g.227008279T>C" "" "benign" "" "0000920776" "0" "10" "2" "227872182" "227872182" "subst" "0.467875" "00006" "COL4A4_000122" "g.227872182G>A" "" "{PMID:Plevova 2023:36844206}" "" "" "variant in COL4A4:c.1598G>A homozygote" "Germline" "" "rs2228557" "0" "" "" "g.227007466G>A" "" "benign" "" "0000920778" "3" "90" "2" "227953394" "227953394" "subst" "0" "00006" "COL4A4_000265" "g.227953394C>T" "" "{PMID:Plevova 2023:36844206}" "" "" "" "Germline" "" "" "0" "" "" "g.227088678C>T" "" "pathogenic (recessive)" "" "0000920779" "1" "90" "2" "227953394" "227953394" "subst" "0" "00006" "COL4A4_000265" "g.227953394C>T" "" "{PMID:Plevova 2023:36844206}" "" "" "possible digenic inheritance" "Germline" "" "" "0" "" "" "g.227088678C>T" "" "pathogenic (!)" "" "0000920780" "3" "90" "2" "227953394" "227953394" "subst" "0" "00006" "COL4A4_000265" "g.227953394C>T" "" "{PMID:Plevova 2023:36844206}" "" "" "" "Germline" "" "" "0" "" "" "g.227088678C>T" "" "pathogenic (recessive)" "" "0000920781" "1" "90" "2" "227953394" "227953394" "subst" "0" "00006" "COL4A4_000265" "g.227953394C>T" "" "{PMID:Plevova 2023:36844206}" "" "" "" "Germline" "" "" "0" "" "" "g.227088678C>T" "" "pathogenic (dominant)" "" "0000920782" "1" "90" "2" "227953394" "227953394" "subst" "0" "00006" "COL4A4_000265" "g.227953394C>T" "" "{PMID:Plevova 2023:36844206}" "" "" "" "Germline" "" "" "0" "" "" "g.227088678C>T" "" "pathogenic (dominant)" "" "0000923635" "0" "30" "2" "227872139" "227872139" "subst" "3.65503E-5" "02326" "COL4A4_000710" "g.227872139A>G" "" "" "" "COL4A4(NM_000092.4):c.4975T>C (p.L1659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923636" "0" "30" "2" "227875224" "227875224" "subst" "0" "02327" "COL4A4_000711" "g.227875224G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923637" "0" "30" "2" "227898172" "227898172" "subst" "0.000126209" "02326" "COL4A4_000712" "g.227898172G>A" "" "" "" "COL4A4(NM_000092.4):c.3531C>T (p.N1177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923638" "0" "30" "2" "227920837" "227920837" "subst" "0.000170803" "02326" "COL4A4_000713" "g.227920837A>G" "" "" "" "COL4A4(NM_000092.4):c.2546-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923639" "0" "30" "2" "227985754" "227985754" "subst" "4.09853E-6" "02326" "COL4A4_000714" "g.227985754T>A" "" "" "" "COL4A4(NM_000092.4):c.303A>T (p.G101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927636" "10" "90" "2" "227876942" "227876942" "subst" "4.06243E-6" "04510" "COL4A4_000715" "g.227876942C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.227012226C>T" "" "pathogenic (dominant)" "ACMG" "0000928542" "0" "30" "2" "227886753" "227886753" "subst" "0.000355534" "02326" "COL4A4_000716" "g.227886753G>A" "" "" "" "COL4A4(NM_000092.4):c.4216+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928543" "0" "90" "2" "227912190" "227912190" "subst" "0" "02326" "COL4A4_000368" "g.227912190C>A" "" "" "" "COL4A4(NM_000092.4):c.3289+1G>T, COL4A4(NM_000092.5):c.3289+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928544" "0" "50" "2" "227963449" "227963449" "subst" "0" "02326" "COL4A4_000717" "g.227963449G>A" "" "" "" "COL4A4(NM_000092.4):c.1165C>T (p.P389S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928545" "0" "70" "2" "227963506" "227963506" "subst" "0" "02326" "COL4A4_000718" "g.227963506C>T" "" "" "" "COL4A4(NM_000092.4):c.1108G>A (p.G370R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928546" "0" "90" "2" "227967478" "227967523" "del" "0" "02327" "COL4A4_000719" "g.227967478_227967523del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947772" "0" "90" "2" "227872756" "227872756" "subst" "0" "02326" "COL4A4_000567" "g.227872756C>T" "" "" "" "COL4A4(NM_000092.4):c.4787G>A (p.W1596*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947773" "0" "90" "2" "227886884" "227886884" "dup" "0" "02326" "COL4A4_000574" "g.227886884dup" "" "" "" "COL4A4(NM_000092.4):c.4097dupC (p.P1368Afs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947774" "0" "90" "2" "227919328" "227919328" "subst" "0" "02327" "COL4A4_000720" "g.227919328C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947775" "0" "90" "2" "227919418" "227919418" "subst" "3.24968E-5" "02326" "COL4A4_000466" "g.227919418C>T" "" "" "" "COL4A4(NM_000092.4):c.2752G>A (p.G918R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947776" "0" "90" "2" "227922317" "227922317" "del" "0" "02327" "COL4A4_000059" "g.227922317del" "" "" "" "COL4A4(NM_000092.4):c.2385delG (p.P796Qfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947778" "0" "70" "2" "227973305" "227973305" "subst" "0" "02326" "COL4A4_000722" "g.227973305C>G" "" "" "" "COL4A4(NM_000092.4):c.727G>C (p.G243R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947779" "0" "30" "2" "228009244" "228009244" "subst" "0.00195184" "02326" "COL4A4_000004" "g.228009244T>C" "" "" "" "COL4A4(NM_000092.4):c.102A>G (p.Q34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960171" "0" "70" "2" "227958874" "227958891" "del" "0" "00006" "COL4A4_000030" "g.227958874_227958891del" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "1323_1340delTGGCTTGCCTGGAGCACC" "ACMG PM3_S, PM4, BS1_P" "Germline/De novo (untested)" "" "" "0" "" "" "g.227094158_227094175del" "" "likely pathogenic (recessive)" "ACMG" "0000961932" "0" "50" "2" "227872192" "227872192" "subst" "0" "02327" "COL4A4_000355" "g.227872192C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961933" "0" "50" "2" "227872831" "227872831" "subst" "0" "02327" "COL4A4_000723" "g.227872831G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961934" "0" "70" "2" "227890516" "227890516" "subst" "0" "02327" "COL4A4_000655" "g.227890516A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000961937" "0" "70" "2" "227912209" "227912209" "subst" "0" "02327" "COL4A4_000724" "g.227912209C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000961938" "0" "50" "2" "227920709" "227920709" "subst" "2.43817E-5" "02326" "COL4A4_000725" "g.227920709G>A" "" "" "" "COL4A4(NM_000092.4):c.2668C>T (p.P890S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961939" "0" "70" "2" "227922253" "227922253" "subst" "8.94949E-5" "02326" "COL4A4_000726" "g.227922253C>T" "" "" "" "COL4A4(NM_000092.4):c.2447G>A (p.G816E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000961940" "0" "90" "2" "227924852" "227924852" "subst" "0" "02326" "COL4A4_000484" "g.227924852C>T" "" "" "" "COL4A4(NM_000092.4):c.2164G>A (p.G722S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961941" "0" "30" "2" "227945186" "227945186" "subst" "0.000272134" "02326" "COL4A4_000727" "g.227945186A>G" "" "" "" "COL4A4(NM_000092.4):c.1776T>C (p.A592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961942" "0" "70" "2" "227958869" "227958886" "del" "0" "02326" "COL4A4_000506" "g.227958869_227958886del" "" "" "" "COL4A4(NM_000092.4):c.1327_1344delTTGCCTGGAGCACCAGGC (p.P444_L449del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000961943" "0" "90" "2" "227958874" "227958891" "del" "0" "02326" "COL4A4_000030" "g.227958874_227958891del" "" "" "" "COL4A4(NM_000092.4):c.1323_1340delTGGCTTGCCTGGAGCACC (p.P444_L449del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961944" "0" "30" "2" "227959014" "227959014" "subst" "0.000381861" "02326" "COL4A4_000380" "g.227959014T>C" "" "" "" "COL4A4(NM_000092.4):c.1205-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961945" "0" "30" "2" "227963412" "227963412" "subst" "0.00263892" "02326" "COL4A4_000612" "g.227963412G>A" "" "" "" "COL4A4(NM_000092.4):c.1202C>T (p.A401V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961947" "0" "90" "2" "227979390" "227979390" "dup" "0" "02326" "COL4A4_000728" "g.227979390dup" "" "" "" "COL4A4(NM_000092.4):c.516dupA (p.G173Rfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961948" "0" "30" "2" "227985859" "227985859" "subst" "0.00157051" "02326" "COL4A4_000246" "g.227985859T>C" "" "" "" "COL4A4(NM_000092.4):c.198A>G (p.P66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975035" "0" "50" "2" "227872132" "227872132" "subst" "0.000125897" "01804" "COL4A4_000565" "g.227872132A>T" "" "" "" "COL4A4(NM_000092.5):c.4982T>A (p.(Phe1661Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975036" "0" "50" "2" "227872828" "227872828" "subst" "0.000142693" "01804" "COL4A4_000117" "g.227872828G>A" "" "" "" "COL4A4(NM_000092.4):c.4715C>T (p.P1572L), COL4A4(NM_000092.5):c.4715C>T (p.(Pro1572Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975037" "0" "70" "2" "227875029" "227875029" "subst" "4.06095E-6" "02326" "COL4A4_000275" "g.227875029C>T" "" "" "" "COL4A4(NM_000092.4):c.4522G>A (p.G1508S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975038" "0" "70" "2" "227886888" "227886897" "del" "0" "02326" "COL4A4_000729" "g.227886888_227886897del" "" "" "" "COL4A4(NM_000092.4):c.4091-8_4092delAATTTCAGGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975039" "0" "30" "2" "227892737" "227892737" "dup" "0" "01804" "COL4A4_000630" "g.227892737dup" "" "" "" "COL4A4(NM_000092.4):c.3974-4dupT, COL4A4(NM_000092.5):c.3974-4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975040" "0" "70" "2" "227895159" "227895159" "subst" "3.6636E-5" "02327" "COL4A4_000730" "g.227895159C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975041" "0" "50" "2" "227896989" "227896989" "subst" "0.000302419" "01804" "COL4A4_000731" "g.227896989A>G" "" "" "" "COL4A4(NM_000092.4):c.3581T>C (p.L1194S), COL4A4(NM_000092.5):c.3581T>C (p.(Leu1194Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975042" "0" "50" "2" "227915758" "227915758" "subst" "3.65533E-5" "01804" "COL4A4_000732" "g.227915758G>A" "" "" "" "COL4A4(NM_000092.5):c.3085C>T (p.(Pro1029Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975043" "0" "10" "2" "227922261" "227922261" "subst" "0.0038911" "02327" "COL4A4_000226" "g.227922261T>A" "" "" "" "COL4A4(NM_000092.4):c.2439A>T (p.G813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975044" "0" "50" "2" "227924855" "227924855" "subst" "9.75262E-5" "01804" "COL4A4_000376" "g.227924855G>A" "" "" "" "COL4A4(NM_000092.4):c.2161C>T (p.P721S), COL4A4(NM_000092.5):c.2161C>T (p.(Pro721Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975045" "0" "30" "2" "227927294" "227927294" "subst" "0.00391152" "02327" "COL4A4_000222" "g.227927294C>T" "" "" "" "COL4A4(NM_000092.4):c.2008G>A (p.V670I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975046" "0" "90" "2" "227942740" "227942740" "del" "0" "02327" "COL4A4_000733" "g.227942740del" "" "" "" "COL4A4(NM_000092.4):c.1862delC (p.P621Qfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975047" "0" "70" "2" "227974001" "227974001" "subst" "0" "02326" "COL4A4_000734" "g.227974001C>T" "" "" "" "COL4A4(NM_000092.4):c.596G>A (p.G199E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975048" "0" "70" "2" "227979402" "227979402" "subst" "0" "02327" "COL4A4_000735" "g.227979402C>T" "" "" "" "COL4A4(NM_000092.4):c.500G>A (p.G167E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975049" "0" "50" "2" "227984646" "227984646" "subst" "0" "01804" "COL4A4_000736" "g.227984646C>G" "" "" "" "COL4A4(NM_000092.5):c.337G>C (p.(Gly113Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975050" "0" "30" "2" "228012119" "228012119" "subst" "0.000154416" "01804" "COL4A4_000683" "g.228012119G>A" "" "" "" "COL4A4(NM_000092.4):c.71+10C>T, COL4A4(NM_000092.5):c.71+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975051" "0" "90" "2" "228012129" "228012129" "del" "0" "01804" "COL4A4_000627" "g.228012129del" "" "" "" "COL4A4(NM_000092.5):c.71+1del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975052" "0" "30" "2" "228029485" "228029496" "del" "0" "01804" "COL4A3_000460" "g.228029485_228029496del" "" "" "" "COL4A3(NM_000091.5):c.43_54del (p.(Pro15_Leu18del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992577" "0" "50" "2" "227872043" "227872043" "subst" "4.06095E-6" "02326" "COL4A4_000737" "g.227872043A>G" "" "" "" "COL4A4(NM_000092.4):c.5071T>C (p.*1691Qext*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992578" "0" "30" "2" "227872783" "227872783" "subst" "0.00203687" "01804" "COL4A4_000430" "g.227872783G>C" "" "" "" "COL4A4(NM_000092.4):c.4760C>G (p.P1587R, p.(Pro1587Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992579" "0" "50" "2" "227872813" "227872813" "subst" "0" "01804" "COL4A4_000738" "g.227872813G>A" "" "" "" "COL4A4(NM_000092.4):c.4730C>T (p.(Ala1577Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992580" "0" "50" "2" "227872987" "227872987" "subst" "0" "01804" "COL4A4_000739" "g.227872987G>C" "" "" "" "COL4A4(NM_000092.4):c.4556C>G (p.(Thr1519Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992581" "0" "50" "2" "227875157" "227875157" "subst" "7.34634E-5" "01804" "COL4A4_000344" "g.227875157C>T" "" "" "" "COL4A4(NM_000092.4):c.4394G>A (p.G1465D, p.(Gly1465Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992582" "0" "30" "2" "227875161" "227875161" "subst" "4.49515E-5" "01804" "COL4A4_000740" "g.227875161C>T" "" "" "" "COL4A4(NM_000092.4):c.4390G>A (p.(Gly1464Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992583" "0" "30" "2" "227896724" "227896724" "subst" "0" "01804" "COL4A4_000741" "g.227896724T>C" "" "" "" "COL4A4(NM_000092.4):c.3754A>G (p.(Lys1252Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992584" "0" "50" "2" "227896870" "227896870" "subst" "0" "01804" "COL4A4_000742" "g.227896870G>T" "" "" "" "COL4A4(NM_000092.4):c.3700C>A (p.(Pro1234Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992585" "0" "50" "2" "227915754" "227915754" "subst" "0" "01804" "COL4A4_000588" "g.227915754C>G" "" "" "" "COL4A4(NM_000092.4):c.3089G>C (p.(Gly1030Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992586" "0" "50" "2" "227915815" "227915815" "subst" "0" "01804" "COL4A4_000743" "g.227915815G>A" "" "" "" "COL4A4(NM_000092.4):c.3028C>T (p.(Pro1010Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992587" "0" "30" "2" "227920747" "227920747" "subst" "0.00378434" "01804" "COL4A4_000060" "g.227920747C>T" "" "" "" "COL4A4(NM_000092.4):c.2630G>A (p.R877Q, p.(Arg877Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992588" "0" "50" "2" "227924184" "227924184" "subst" "7.31012E-5" "01804" "COL4A4_000052" "g.227924184C>G" "" "" "" "COL4A4(NM_000092.4):c.2320G>C (p.G774R, p.(Gly774Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992589" "0" "70" "2" "227924852" "227924852" "subst" "0" "02327" "COL4A4_000484" "g.227924852C>T" "" "" "" "COL4A4(NM_000092.4):c.2164G>A (p.G722S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992590" "0" "50" "2" "227942784" "227942784" "subst" "0" "02327" "COL4A4_000744" "g.227942784C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992591" "0" "70" "2" "227946858" "227946858" "subst" "0" "02326" "COL4A4_000745" "g.227946858C>A" "" "" "" "COL4A4(NM_000092.4):c.1669G>T (p.G557C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992592" "0" "90" "2" "227953492" "227953492" "dup" "0" "02326" "COL4A4_000397" "g.227953492dup" "" "" "" "COL4A4(NM_000092.4):c.1505dupC (p.G503Wfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000992593" "0" "30" "2" "227953514" "227953514" "subst" "0" "01804" "COL4A4_000746" "g.227953514G>A" "" "" "" "COL4A4(NM_000092.4):c.1478C>T (p.(Ala493Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992594" "0" "50" "2" "227958916" "227958916" "subst" "0" "01804" "COL4A4_000747" "g.227958916G>A" "" "" "" "COL4A4(NM_000092.4):c.1294C>T (p.(Pro432Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992595" "0" "30" "2" "227958939" "227958939" "subst" "4.07246E-6" "01804" "COL4A4_000561" "g.227958939A>G" "" "" "" "COL4A4(NM_000092.4):c.1271T>C (p.I424T, p.(Ile424Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992596" "0" "30" "2" "227958993" "227958993" "subst" "2.85381E-5" "01804" "COL4A4_000748" "g.227958993G>A" "" "" "" "COL4A4(NM_000092.4):c.1217C>T (p.(Pro406Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992597" "0" "50" "2" "227967507" "227967507" "subst" "8.53138E-5" "02327" "COL4A4_000749" "g.227967507G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992598" "0" "50" "2" "227968701" "227968701" "subst" "3.66662E-5" "01804" "COL4A4_000614" "g.227968701T>C" "" "" "" "COL4A4(NM_000092.4):c.803A>G (p.(Tyr268Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992599" "0" "30" "2" "227973562" "227973562" "subst" "8.24165E-6" "01804" "COL4A4_000618" "g.227973562C>G" "" "" "" "COL4A4(NM_000092.4):c.680G>C (p.(Arg227Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992600" "0" "70" "2" "227983369" "227983369" "subst" "8.13484E-6" "01804" "COL4A4_000531" "g.227983369C>G" "" "" "" "COL4A4(NM_000092.4):c.481G>C (p.(Gly161Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992601" "0" "50" "2" "227985825" "227985840" "del" "0" "01804" "COL4A4_000750" "g.227985825_227985840del" "" "" "" "COL4A4(NM_000092.4):c.218_233delAGGGTCCAATTGGACC (p.(Gln73fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992602" "0" "30" "2" "228009277" "228009277" "subst" "2.44242E-5" "01804" "COL4A4_000751" "g.228009277A>G" "" "" "" "COL4A4(NM_000092.4):c.72-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013675" "0" "70" "2" "227898181" "227898216" "del" "0" "02326" "COL4A4_000752" "g.227898181_227898216del" "" "" "" "COL4A4(NM_000092.4):c.3506-13_3528del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013676" "0" "50" "2" "227919330" "227919330" "subst" "5.2794E-5" "02325" "COL4A4_000753" "g.227919330C>T" "" "" "" "COL4A4(NM_000092.5):c.2840G>A (p.R947Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013677" "0" "70" "2" "227920804" "227920804" "subst" "0" "02326" "COL4A4_000754" "g.227920804C>T" "" "" "" "COL4A4(NM_000092.4):c.2573G>A (p.G858E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013678" "0" "70" "2" "227942637" "227942637" "subst" "0" "02326" "COL4A4_000602" "g.227942637C>G" "" "" "" "COL4A4(NM_000092.4):c.1960G>C (p.G654R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013679" "0" "70" "2" "227953448" "227953448" "subst" "0" "02329" "COL4A4_000755" "g.227953448C>T" "" "" "" "COL4A4(NM_000092.5):c.1544G>A (p.G515E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013680" "0" "70" "2" "227979402" "227979402" "subst" "0" "02326" "COL4A4_000735" "g.227979402C>T" "" "" "" "COL4A4(NM_000092.4):c.500G>A (p.G167E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013681" "0" "70" "2" "227979413" "227979413" "subst" "0" "02326" "COL4A4_000635" "g.227979413C>G" "" "" "" "COL4A4(NM_000092.4):c.490-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013682" "0" "30" "2" "228009292" "228009292" "subst" "3.262E-5" "02326" "COL4A4_000756" "g.228009292C>T" "" "" "" "COL4A4(NM_000092.4):c.72-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024543" "0" "70" "2" "227872828" "227872828" "subst" "0.000142693" "02327" "COL4A4_000117" "g.227872828G>A" "" "" "" "COL4A4(NM_000092.4):c.4715C>T (p.P1572L), COL4A4(NM_000092.5):c.4715C>T (p.(Pro1572Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024544" "0" "70" "2" "227872835" "227872835" "subst" "3.25866E-5" "02327" "COL4A4_000757" "g.227872835C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024545" "0" "70" "2" "227898198" "227898198" "subst" "0" "02326" "COL4A4_000758" "g.227898198C>T" "" "" "" "COL4A4(NM_000092.4):c.3506-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024546" "0" "70" "2" "227912217" "227912217" "subst" "0" "02326" "COL4A4_000759" "g.227912217C>T" "" "" "" "COL4A4(NM_000092.4):c.3263G>A (p.G1088D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024547" "0" "30" "2" "227924840" "227924841" "ins" "0" "02326" "COL4A4_000760" "g.227924840_227924841insCAAAA" "" "" "" "COL4A4(NM_000092.4):c.2164+15_2164+16insGTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024548" "0" "70" "2" "227924924" "227924924" "subst" "0" "02327" "COL4A4_000761" "g.227924924C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024549" "0" "90" "2" "227942740" "227942740" "del" "0" "02326" "COL4A4_000733" "g.227942740del" "" "" "" "COL4A4(NM_000092.4):c.1862delC (p.P621Qfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024550" "0" "70" "2" "227967913" "227967913" "subst" "0" "02326" "COL4A4_000762" "g.227967913C>A" "" "" "" "COL4A4(NM_000092.4):c.817G>T (p.G273C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024551" "0" "30" "2" "228029487" "228029487" "subst" "0.00078714" "02326" "COL4A3_000781" "g.228029487G>A" "" "" "" "COL4A3(NM_000091.4):c.45G>A (p.P15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033050" "0" "70" "2" "227872256" "227872256" "subst" "1.22544E-5" "02326" "COL4A4_000763" "g.227872256C>T" "" "" "" "COL4A4(NM_000092.4):c.4858G>A (p.G1620S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033051" "0" "50" "2" "227872801" "227872801" "subst" "0" "02327" "COL4A4_000764" "g.227872801T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033052" "0" "50" "2" "227890526" "227890526" "subst" "0" "01804" "COL4A4_000575" "g.227890526C>T" "" "" "" "COL4A4(NM_000092.4):c.4082G>A (p.G1361D), COL4A4(NM_000092.5):c.4082G>A (p.(Gly1361Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033053" "0" "50" "2" "227895218" "227895218" "subst" "0.000134169" "01804" "COL4A4_000765" "g.227895218G>A" "" "" "" "COL4A4(NM_000092.5):c.3914C>T (p.(Pro1305Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033054" "0" "90" "2" "227896986" "227896986" "dup" "0" "02326" "COL4A4_000766" "g.227896986dup" "" "" "" "COL4A4(NM_000092.4):c.3584dupA (p.H1195Qfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033055" "0" "30" "2" "227896989" "227896989" "subst" "0.000302419" "02326" "COL4A4_000731" "g.227896989A>G" "" "" "" "COL4A4(NM_000092.4):c.3581T>C (p.L1194S), COL4A4(NM_000092.5):c.3581T>C (p.(Leu1194Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033056" "0" "90" "2" "227896993" "227896993" "subst" "0" "02326" "COL4A4_000767" "g.227896993C>A" "" "" "" "COL4A4(NM_000092.4):c.3578-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033057" "0" "90" "2" "227906942" "227906942" "subst" "0" "02326" "COL4A4_000768" "g.227906942G>A" "" "" "" "COL4A4(NM_000092.4):c.3427C>T (p.Q1143*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033058" "0" "70" "2" "227907883" "227907883" "subst" "2.03403E-5" "02327" "COL4A4_000422" "g.227907883C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033059" "0" "90" "2" "227924262" "227924262" "subst" "3.65652E-5" "02326" "COL4A4_000769" "g.227924262C>T" "" "" "" "COL4A4(NM_000092.4):c.2242G>A (p.G748S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033060" "0" "50" "2" "227954649" "227954649" "subst" "2.84534E-5" "01804" "COL4A4_000770" "g.227954649G>A" "" "" "" "COL4A4(NM_000092.5):c.1394C>T (p.(Pro465Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033061" "0" "90" "2" "227968756" "227968756" "subst" "0" "02327" "COL4A4_000771" "g.227968756G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033062" "0" "50" "2" "228029459" "228029459" "subst" "0" "01804" "COL4A3_000783" "g.228029459C>A" "" "" "" "COL4A3(NM_000091.5):c.17C>A (p.(Ala6Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045503" "0" "90" "2" "227968705" "227968706" "del" "0" "03779" "COL4A4_000772" "g.227968705_227968706del" "" "" "" "" "" "Unknown" "" "rs2060671183" "0" "" "" "" "" "pathogenic" "" "0001045813" "0" "30" "2" "227892710" "227892710" "subst" "0.000978603" "02327" "COL4A4_000773" "g.227892710G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045814" "0" "70" "2" "227964377" "227964377" "subst" "0" "02327" "COL4A4_000774" "g.227964377C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 COL4A4 ## Count = 1219 "{{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}}" "0000150200" "00005465" "13" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(=)" "2" "0000150201" "00005465" "13" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Ile6Thr)" "2" "0000150202" "00005465" "13" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Ile6Thr)" "2" "0000150203" "00005465" "70" "32" "0" "42" "0" "c.32_42del" "r.(?)" "p.(Cys11Phefs*46)" "2" "0000150204" "00005465" "13" "102" "0" "102" "0" "c.102A>G" "r.(?)" "p.(=)" "3" "0000150205" "00005465" "97" "2590" "0" "2590" "0" "c.2590G>A" "r.(?)" "p.(Gly864Arg)" "30" "0000150206" "00005465" "13" "195" "0" "195" "0" "c.195T>C" "r.(?)" "p.(=)" "5" "0000150207" "00005465" "13" "327" "86" "327" "86" "c.327+86C>T" "r.(?)" "p.(=)" "5i" "0000150208" "00005465" "70" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Glu)" "6" "0000150209" "00005465" "70" "489" "6" "489" "6" "c.489+6A>G" "r.(?)" "p.(=)" "7i" "0000150210" "00005465" "13" "490" "-121" "490" "-121" "c.490-121T>G" "r.(?)" "p.(=)" "7i" "0000150211" "00005465" "13" "559" "-83" "559" "-83" "c.559-83T>C" "r.(?)" "p.(=)" "8i" "0000150212" "00005465" "13" "595" "-111" "595" "-111" "c.595-111T>C" "r.(?)" "p.(=)" "9i" "0000150213" "00005465" "13" "594" "162" "594" "162" "c.594+162G>T" "r.(?)" "p.(=)" "9i" "0000150214" "00005465" "97" "595" "0" "595" "0" "c.595G>A" "r.spl?" "p.(Gly199Arg)" "10" "0000150215" "00005465" "13" "657" "67" "657" "67" "c.657+67A>G" "r.(?)" "p.(=)" "10i" "0000150216" "00005465" "13" "658" "-39" "658" "-39" "c.658-39T>C" "r.(?)" "p.(=)" "10i" "0000150217" "00005465" "13" "694" "-72" "694" "-72" "c.694-72G>T" "r.(?)" "p.(=)" "11i" "0000150218" "00005465" "13" "735" "104" "735" "104" "c.735+104C>T" "r.(?)" "p.(=)" "12i" "0000150219" "00005465" "90" "807" "0" "807" "0" "c.807dup" "r.(?)" "p.(Gly270Argfs*160)" "13" "0000150220" "00005465" "50" "870" "17" "870" "18" "c.870+17_870+18insT" "r.(=)" "p.(=)" "14i" "0000150221" "00005465" "13" "871" "-38" "871" "-16" "c.871-38_871-16del" "r.(?)" "p.(=)" "14i" "0000150222" "00005465" "90" "914" "0" "959" "0" "c.914_959del" "r.(?)" "p.(Gly305Valfs*5)" "15" "0000150223" "00005465" "13" "930" "175" "930" "175" "c.930+175G>C" "r.(?)" "p.(=)" "15i" "0000150224" "00005465" "97" "940" "0" "940" "0" "c.940G>T" "r.(?)" "p.(Gly314Cys)" "16" "0000150225" "00005465" "97" "975" "0" "975" "0" "c.975G>T" "r.(?)" "p.(Lys325Asn)" "16" "0000150226" "00005465" "13" "1029" "71" "1029" "71" "c.1029+71A>G" "r.(?)" "p.(=)" "17i" "0000150227" "00005465" "13" "1029" "71" "1029" "71" "c.1029+71A>G" "r.(?)" "p.(=)" "17i" "0000150228" "00005465" "13" "1030" "-149" "1030" "-149" "c.1030-149A>G" "r.(?)" "p.(=)" "17i" "0000150229" "00005465" "13" "1099" "27" "1099" "27" "c.1099+27T>A" "r.(?)" "p.(=)" "18i" "0000150230" "00005465" "70" "1323" "0" "1340" "0" "c.1323_1340del" "r.(?)" "p.(Pro444_Leu449del)" "20" "0000150231" "00005465" "97" "1405" "0" "1405" "0" "c.1405G>T" "r.(?)" "p.(Gly469*)" "21" "0000150232" "00005465" "97" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Gly481Ser)" "21" "0000150233" "00005465" "97" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Gly478Glu)" "21" "0000150234" "00005465" "13" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Pro482Ser)" "21" "0000150235" "00005465" "13" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Pro482Ser)" "21" "0000150236" "00005465" "13" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Pro482Ser)" "21" "0000150237" "00005465" "13" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Pro482Ser)" "21" "0000150238" "00005465" "13" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Pro482Ser)" "21" "0000150239" "00005465" "13" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Pro482Ser)" "21" "0000150240" "00005465" "13" "1624" "-150" "1624" "-150" "c.1624-150G>C" "r.(?)" "p.(=)" "22i" "0000150241" "00005465" "97" "1579" "0" "1579" "0" "c.1579G>T" "r.(?)" "p.(Gly527Cys)" "22" "0000150242" "00005465" "97" "1580" "0" "1580" "0" "c.1580del" "r.(?)" "p.(Gly527Valfs*126)" "22" "0000150243" "00005465" "13" "1634" "0" "1634" "0" "c.1634G>C" "r.(?)" "p.(Gly545Ala)" "23" "0000150244" "00005465" "13" "1634" "0" "1634" "0" "c.1634G>C" "r.(?)" "p.(Gly545Ala)" "23" "0000150245" "00005465" "13" "1634" "0" "1634" "0" "c.1634G>C" "r.(?)" "p.(Gly545Ala)" "23" "0000150246" "00005465" "13" "1634" "0" "1634" "0" "c.1634G>C" "r.(?)" "p.(Gly545Ala)" "23" "0000150247" "00005465" "90" "4129" "0" "4129" "0" "c.4129C>T" "r.(?)" "p.(Arg1377*)" "44" "0000150248" "00005465" "13" "1634" "0" "1634" "0" "c.1634G>C" "r.(?)" "p.(Gly545Ala)" "23" "0000150249" "00005465" "13" "1634" "0" "1634" "0" "c.1634G>C" "r.(?)" "p.(Gly545Ala)" "23" "0000150250" "00005465" "13" "1634" "0" "1634" "0" "c.1634G>C" "r.(?)" "p.(Gly545Ala)" "23" "0000150251" "00005465" "70" "1697" "-1" "1697" "-1" "c.1697-1G>C" "r.spl" "p.?" "23i" "0000150252" "00005465" "53" "1709" "0" "1709" "0" "c.1709A>G" "r.(?)" "p.(Glu570Gly)" "24" "0000150253" "00005465" "90" "1802" "0" "1802" "0" "c.1802del" "r.(?)" "p.(Pro601Glnfs*52)" "24" "0000150254" "00005465" "97" "1935" "0" "1952" "0" "c.1935_1952del" "r.1805_1988del" "p.Gly602Valfs*8" "25" "0000150255" "00005465" "97" "1935" "0" "1952" "0" "c.1935_1952del" "r.1805_1988del" "p.Gly602Valfs*8" "25" "0000150256" "00005465" "97" "1935" "0" "1952" "0" "c.1935_1952del" "r.(1805_1988del)" "p.(Pro647_Val652del)" "25" "0000150257" "00005465" "13" "1833" "0" "1833" "0" "c.1833T>C" "r.(?)" "p.(=)" "25" "0000150258" "00005465" "13" "1833" "0" "1833" "0" "c.1833T>C" "r.(?)" "p.(=)" "25" "0000150259" "00005465" "97" "1889" "0" "1889" "0" "c.1889del" "r.(?)" "p.(Pro630Glnfs*23)" "25" "0000150260" "00005465" "97" "1935" "0" "1952" "0" "c.1935_1952del" "r.(?)" "p.(Pro647_Val652del)" "25" "0000150261" "00005465" "97" "1837" "0" "1837" "0" "c.1837G>A" "r.(?)" "p.(Gly613Arg)" "25" "0000150262" "00005465" "13" "2045" "0" "2045" "0" "c.2045A>G" "r.(?)" "p.(Asp682Gly)" "26" "0000150263" "00005465" "13" "2164" "34" "2164" "34" "c.2164+34dup" "r.(=)" "p.(=)" "27i" "0000150264" "00005465" "13" "2165" "-22" "2165" "-22" "c.2165-22dup" "r.(=)" "p.(=)" "27i" "0000150265" "00005465" "97" "2279" "0" "2279" "0" "c.2279dup" "r.(?)" "p.(Asp761Argfs*27)" "28" "0000150266" "00005465" "97" "2320" "0" "2320" "0" "c.2320G>C" "r.(?)" "p.(Gly774Arg)" "28" "0000150267" "00005465" "97" "2374" "0" "2374" "0" "c.2374G>A" "r.(?)" "p.(Gly792Arg)" "28" "0000150268" "00005465" "13" "2367" "0" "2367" "0" "c.2367A>T" "r.(?)" "p.(=)" "28" "0000150269" "00005465" "97" "2383" "2" "2383" "2" "c.2383+2T>C" "r.spl?" "p.?" "28i" "0000150270" "00005465" "13" "2384" "-5" "2384" "-5" "c.2384-5T>C" "r.(?)" "p.(=)" "28i" "0000150271" "00005465" "13" "2384" "-5" "2384" "-5" "c.2384-5T>C" "r.(?)" "p.(=)" "28i" "0000150272" "00005465" "13" "2384" "-5" "2384" "-5" "c.2384-5T>C" "r.(?)" "p.(=)" "28i" "0000150273" "00005465" "13" "2384" "-5" "2384" "-5" "c.2384-5T>C" "r.(?)" "p.(=)" "28i" "0000150274" "00005465" "13" "2384" "-5" "2384" "-5" "c.2384-5T>C" "r.(?)" "p.(=)" "28i" "0000150275" "00005465" "13" "2384" "-138" "2384" "-138" "c.2384-138C>T" "r.(?)" "p.(=)" "28i" "0000150276" "00005465" "13" "2384" "-154" "2384" "-154" "c.2384-154A>G" "r.(?)" "p.(=)" "28i" "0000150277" "00005465" "97" "2385" "0" "2385" "0" "c.2385del" "r.(?)" "p.(Pro796Glnfs*8)" "29" "0000150278" "00005465" "97" "2638" "0" "2638" "0" "c.2638del" "r.(?)" "p.(Ala880Hisfs*70)" "30" "0000150279" "00005465" "97" "2583" "0" "2583" "0" "c.2583del" "r.(?)" "p.(Pro862Leufs*7)" "30" "0000150280" "00005465" "97" "2590" "0" "2590" "0" "c.2590G>T" "r.(?)" "p.(Gly864Trp)" "30" "0000150281" "00005465" "97" "2690" "0" "2690" "0" "c.2690G>A" "r.(?)" "p.(Gly897Glu)" "30" "0000150282" "00005465" "13" "3594" "0" "3594" "0" "c.3594G>A" "r.(?)" "p.(=)" "39" "0000150283" "00005465" "13" "2717" "-5" "2717" "-5" "c.2717-5A>T" "r.(?)" "p.(=)" "30i" "0000150284" "00005465" "13" "2717" "-5" "2717" "-5" "c.2717-5A>T" "r.(?)" "p.(=)" "30i" "0000150285" "00005465" "13" "2717" "-5" "2717" "-5" "c.2717-5A>T" "r.(?)" "p.(=)" "30i" "0000150286" "00005465" "70" "2722" "0" "2722" "0" "c.2722C>T" "r.(?)" "p.(Arg908Trp)" "31" "0000150287" "00005465" "97" "2744" "0" "2744" "0" "c.2744del" "r.(?)" "p.(Gly915Valfs*35)" "31" "0000150288" "00005465" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Ala931Thr)" "31" "0000150289" "00005465" "97" "2860" "2" "2860" "2" "c.2860+2T>G" "r.spl" "p.?" "31i" "0000150290" "00005465" "97" "2869" "0" "2869" "0" "c.2869G>C" "r.(?)" "p.(Gly957Arg)" "32" "0000150291" "00005465" "97" "2870" "0" "2870" "0" "c.2870G>A" "r.(?)" "p.(Gly957Glu)" "32" "0000150292" "00005465" "13" "2877" "0" "2877" "0" "c.2877C>T" "r.(?)" "p.(=)" "32" "0000150293" "00005465" "70" "2878" "0" "2878" "0" "c.2878G>A" "r.(?)" "p.(Gly960Arg)" "32" "0000150294" "00005465" "97" "2878" "0" "2878" "0" "c.2878G>A" "r.(?)" "p.(Gly960Arg)" "32" "0000150295" "00005465" "97" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000150296" "00005465" "97" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000150297" "00005465" "97" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000150298" "00005465" "13" "2969" "-50" "2969" "-50" "c.2969-50A>G" "r.(?)" "p.(=)" "32i" "0000150299" "00005465" "13" "2969" "-165" "2969" "-165" "c.2969-165A>G" "r.(?)" "p.(=)" "32i" "0000150300" "00005465" "70" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000150301" "00005465" "70" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000150302" "00005465" "13" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Pro1004Leu)" "33" "0000150303" "00005465" "13" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Pro1004Leu)" "33" "0000150304" "00005465" "13" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Pro1004Leu)" "33" "0000150305" "00005465" "13" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Pro1004Leu)" "33" "0000150306" "00005465" "13" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Pro1004Leu)" "33" "0000150307" "00005465" "13" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Pro1004Leu)" "33" "0000150308" "00005465" "13" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Pro1004Leu)" "33" "0000150309" "00005465" "13" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Pro1004Leu)" "33" "0000150310" "00005465" "97" "3089" "0" "3089" "0" "c.3089G>T" "r.(?)" "p.(Gly1030Val)" "33" "0000150311" "00005465" "97" "3145" "0" "3150" "0" "c.3145_3150delinsC" "r.spl" "p.(Asp1049Argfs*2)" "33" "0000150312" "00005465" "13" "3150" "92" "3150" "92" "c.3150+92C>A" "r.(?)" "p.(=)" "33i" "0000150313" "00005465" "13" "3151" "-128" "3151" "-128" "c.3151-128A>C" "r.(?)" "p.(=)" "33i" "0000150314" "00005465" "13" "3214" "129" "3214" "129" "c.3214+129G>C" "r.(?)" "p.(=)" "34i" "0000150315" "00005465" "13" "3215" "-66" "3215" "-66" "c.3215-66C>T" "r.(?)" "p.(=)" "34i" "0000150316" "00005465" "70" "3222" "0" "3222" "0" "c.3222dup" "r.(?)" "p.(Gly1075Argfs*2)" "35" "0000150317" "00005465" "97" "3289" "1" "3289" "1" "c.3289+1G>A" "r.spl" "p.?" "35i" "0000150318" "00005465" "97" "3289" "1" "3289" "1" "c.3289+1G>A" "r.spl" "p.?" 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"p.(Ser1217Alafs*71)" "39" "0000150597" "00005465" "13" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Pro482Ser)" "21" "0000150598" "00005465" "97" "1986" "0" "1986" "0" "c.1986A>G" "r.(?)" "p.(=)" "25" "0000150599" "00005465" "13" "1634" "0" "1634" "0" "c.1634G>C" "r.(?)" "p.(Gly545Ala)" "23" "0000150600" "00005465" "90" "4923" "0" "4923" "0" "c.4923C>A" "r.(?)" "p.(Cys1641*)" "48" "0000150601" "00005465" "97" "1935" "0" "1952" "0" "c.1935_1952del" "r.1935_1952del" "p.Pro647_Val652del" "25" "0000150602" "00005465" "97" "2690" "0" "2690" "0" "c.2690G>A" "r.(?)" "p.(Gly897Glu)" "30" "0000150603" "00005465" "90" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000150604" "00005465" "90" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000150605" "00005465" "70" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Asp)" "22" "0000150606" "00005465" "70" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Asp)" "22" "0000150607" "00005465" "90" "1802" "0" "1802" "0" "c.1802del" "r.(?)" "p.(Pro601Glnfs*52)" "24" "0000150608" "00005465" "90" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000150609" "00005465" "90" "2638" "0" "2638" "0" "c.2638del" "r.(?)" "p.(Ala880Hisfs*70)" "30" "0000150610" "00005465" "90" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000150611" "00005465" "90" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000150612" "00005465" "90" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000150613" "00005465" "70" "4376" "0" "4376" "0" "c.4376G>T" "r.(?)" "p.(Gly1459Val)" "46" "0000150614" "00005465" "70" "4522" "0" "4522" "0" "c.4522G>A" "r.(?)" "p.(Gly1508Ser)" "46" "0000150615" "00005465" "90" "4444" "0" "4444" "0" "c.4444dup" "r.(?)" "p.(Leu1482Profs*11)" "46" "0000150616" "00005465" "90" "4788" "0" "4788" "0" "c.4788G>A" "r.(?)" "p.(Trp1596*)" "47" "0000150617" "00005465" "90" "2638" "0" "2638" "0" "c.2638del" "r.(?)" "p.(Ala880Hisfs*70)" "30" "0000150618" "00005465" "90" "2884" "0" "2884" "0" "c.2884G>T" "r.(?)" "p.(Glu962*)" "32" "0000150619" "00005465" "90" "2744" "0" "2744" "0" "c.2744del" "r.(?)" "p.(Gly915Valfs*35)" "31" "0000169240" "00005465" "00" "2320" "0" "2320" "0" "c.2320G>C" "r.(?)" "p.(Gly774Arg)" "" "0000169389" "00005465" "00" "4394" "0" "4394" "0" "c.4394G>A" "r.(?)" "p.(Gly1465Asp)" "" "0000251005" "00005465" "10" "1323" "0" "1323" "0" "c.1323T>C" "r.(?)" "p.(Pro441=)" "" "0000251006" "00005465" "10" "948" "0" "948" "0" "c.948T>C" "r.(?)" "p.(Tyr316=)" "" "0000251276" "00005465" "10" "4091" "-445" "4091" "-445" "c.4091-445T>A" "r.(=)" "p.(=)" "" "0000251277" "00005465" "10" "3818" "-45" "3818" "-45" "c.3818-45T>A" "r.(=)" "p.(=)" "" "0000251278" "00005465" "10" "2165" "-15" "2165" "-15" "c.2165-15T>G" "r.(=)" "p.(=)" "" "0000251279" "00005465" "10" "870" "29" "870" "29" "c.870+29del" "r.(=)" "p.(=)" "" "0000251281" "00005465" "10" "594" "63" "594" "63" "c.594+63T>C" "r.(=)" "p.(=)" "" "0000251282" "00005465" "10" "490" "-72" "490" "-72" "c.490-72T>A" "r.(=)" "p.(=)" "" "0000266983" "00005465" "10" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Pro1004Leu)" "" "0000266984" "00005465" "10" "4548" "0" "4548" "0" "c.4548A>G" "r.(?)" "p.(Val1516=)" "" "0000268373" "00005465" "90" "3289" "1" "3289" "1" "c.3289+1G>T" "r.spl?" "p.?" "" "0000270409" "00005465" "10" "-79" "0" "-79" "0" "c.-79C>T" "r.(?)" "p.(=)" "" "0000270410" "00005465" "10" "1460" "-133" "1460" "-133" "c.1460-133C>T" "r.(=)" "p.(=)" "" "0000270411" "00005465" "10" "1821" "0" "1821" "0" "c.1821G>A" "r.(?)" "p.(Ala607=)" "" "0000270412" "00005465" "10" "2008" "0" "2008" "0" "c.2008G>A" "r.(?)" "p.(Val670Ile)" "" "0000270413" "00005465" "70" "2038" "0" "2038" "0" "c.2038G>C" "r.(?)" "p.(Gly680Arg)" "" "0000270414" "00005465" "10" "2056" "56" "2056" "56" "c.2056+56del" "r.(=)" "p.(=)" "" "0000270415" "00005465" "10" "2164" "119" "2164" "119" "c.2164+119A>G" "r.(=)" "p.(=)" "" "0000270416" "00005465" "10" "2164" "30" "2164" "34" "c.2164+30_2164+34dup" "r.(=)" "p.(=)" "" "0000270418" "00005465" "10" "2164" "25" "2164" "34" "c.2164+25_2164+34dup" "r.(=)" "p.(=)" "" "0000270420" "00005465" "10" "2276" "0" "2276" "0" "c.2276C>T" "r.(?)" "p.(Pro759Leu)" "" "0000270421" "00005465" "10" "2439" "0" "2439" "0" "c.2439A>T" "r.(?)" "p.(Gly813=)" "" "0000270422" "00005465" "90" "2690" "0" "2690" "0" "c.2690G>A" "r.(?)" "p.(Gly897Glu)" "" "0000270423" "00005465" "10" "2716" "142" "2716" "142" "c.2716+142C>G" "r.(=)" "p.(=)" "" "0000270424" "00005465" "10" "2717" "-5" "2717" "-5" "c.2717-5A>T" "r.spl?" "p.?" "" "0000270425" "00005465" "10" "2899" "0" "2899" "0" "c.2899A>G" "r.(?)" "p.(Ile967Val)" "" "0000270426" "00005465" "10" "3486" "0" "3486" "0" "c.3486A>G" "r.(?)" "p.(Pro1162=)" "" "0000270427" "00005465" "70" "3532" "0" "3532" "0" "c.3532G>A" "r.(?)" "p.(Gly1178Ser)" "" "0000270428" "00005465" "10" "3979" "0" "3979" "0" "c.3979G>A" "r.(?)" "p.(Val1327Met)" "" "0000270429" "00005465" "10" "4656" "0" "4656" "0" "c.4656G>A" "r.(?)" "p.(Met1552Ile)" "" "0000270430" "00005465" "10" "4678" "0" "4678" "0" "c.4678C>T" "r.(?)" "p.(Arg1560Cys)" "" "0000270431" "00005465" "10" "559" "-155" "559" "-155" "c.559-155C>T" "r.(=)" "p.(=)" "" "0000270432" "00005465" "10" "559" "-21" "559" "-21" "c.559-21A>G" "r.(=)" "p.(=)" "" "0000270433" "00005465" "10" "594" "96" "594" "96" "c.594+96C>T" "r.(=)" "p.(=)" "" "0000270434" "00005465" "10" "736" "-69" "736" "-69" "c.736-69A>T" "r.(=)" "p.(=)" "" "0000274190" "00005465" "50" "-101" "-4" "-101" "-4" "c.-101-4A>G" "r.spl?" "p.?" "" "0000274191" "00005465" "30" "102" "0" "102" "0" "c.102A>G" "r.(?)" "p.(Gln34=)" "" "0000274192" "00005465" "50" "116" "0" "116" "0" "c.116G>A" "r.(?)" "p.(Ser39Asn)" "" "0000274193" "00005465" "30" "1205" "-9" "1205" "-9" "c.1205-9A>G" "r.(=)" "p.(=)" "" "0000274194" "00005465" "50" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Ala607Thr)" "" "0000274195" "00005465" "50" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Pro721Ser)" "" "0000274196" "00005465" "30" "2589" "0" "2589" "0" "c.2589C>T" "r.(?)" "p.(Pro863=)" "" "0000274197" "00005465" "30" "2717" "-5" "2717" "-5" "c.2717-5A>T" "r.spl?" "p.?" "" "0000274198" "00005465" "30" "4731" "0" "4731" "0" "c.4731G>A" "r.(?)" "p.(Ala1577=)" "" "0000274199" "00005465" "30" "4860" "0" "4860" "0" "c.4860C>G" "r.(?)" "p.(Gly1620=)" "" "0000274200" "00005465" "50" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227His)" "" "0000342317" "00005465" "50" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227His)" "" "0000345662" "00005465" "70" "3532" "0" "3532" "0" "c.3532G>A" "r.(?)" "p.(Gly1178Ser)" "" "0000345671" "00005465" "70" "3706" "0" "3706" "0" "c.3706G>A" "r.(?)" "p.(Gly1236Arg)" "" "0000345724" "00005465" "90" "4311" "0" "4315" "0" "c.4311_4315dup" "r.(?)" "p.(Gly1439GlufsTer115)" "" "0000345786" "00005465" "50" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Gly170Glu)" "" "0000346121" "00005465" "70" "1505" "0" "1505" "0" "c.1505dup" "r.(?)" "p.(Gly503TrpfsTer12)" "" "0000346301" "00005465" "50" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Gly855Arg)" "" "0000346316" "00005465" "90" "2690" "0" "2690" "0" "c.2690G>A" "r.(?)" "p.(Gly897Glu)" "" "0000346330" "00005465" "90" "2833" "0" "2833" "0" "c.2833G>T" "r.(?)" "p.(Gly945Ter)" "" "0000352767" "00005465" "90" "3734" "0" "3734" "0" "c.3734G>T" "r.(?)" "p.(Gly1245Val)" "40" "0000352769" "00005465" "90" "2419" "0" "2419" "0" "c.2419G>C" "r.(?)" "p.(Gly807Arg)" "29" "0000352805" "00005465" "90" "3514" "0" "3514" "0" "c.3514G>T" "r.(?)" "p.(Gly1172*)" "38" "0000352806" "00005465" "50" "3516" "0" "3517" "0" "c.3516_3517insAAA" "r.(?)" "p.(Gly1172_Ser1173insLys)" "38" "0000353019" "00005465" "90" "1790" "0" "1790" "0" "c.1790del" "r.(?)" "p.(Asp597Valfs*56)" "24" "0000353667" "00005465" "90" "4136" "0" "4136" "0" "c.4136del" "r.(?)" "p.(Pro1379Glnfs*9)" "44" "0000353668" "00005465" "90" "1862" "0" "1862" "0" "c.1862dup" "r.(?)" "p.(Gly622Argfs*35)" "25" "0000353670" "00005465" "90" "2833" "0" "2833" "0" "c.2833G>A" "r.(?)" "p.(Gly945Arg)" "31" "0000353671" "00005465" "70" "5045" "0" "5045" "0" "c.5045G>A" "r.(?)" "p.(Arg1682Gln)" "48" "0000353672" "00005465" "90" "3707" "0" "3707" "0" "c.3707G>A" "r.(?)" "p.(Gly1236Glu)" "40" "0000353745" "00005465" "70" "81" "0" "86" "0" "c.81_86del" "r.(?)" "p.(Ile29_Leu30del)" "3" "0000353752" "00005465" "90" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000353754" "00005465" "50" "3166" "0" "3166" "0" "c.3166C>G" "r.(?)" "p.(Pro1056Ala)" "34" "0000353758" "00005465" "70" "4538" "0" "4538" "0" "c.4538G>A" "r.(?)" "p.(Cys1513Tyr)" "47" "0000353764" "00005465" "70" "5044" "0" "5044" "0" "c.5044C>T" "r.(?)" "p.(Arg1682Trp)" "48" "0000353765" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000353766" "00005465" "70" "1979" "0" "1979" "0" "c.1979G>A" "r.(?)" "p.(Gly660Asp)" "25" "0000353768" "00005465" "50" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Gly252Ser)" "13" "0000353770" "00005465" "70" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Asp)" "22" "0000353771" "00005465" "70" "4760" "0" "4760" "0" "c.4760C>G" "r.(?)" "p.(Pro1587Arg)" "47" "0000353773" "00005465" "70" "1979" "0" "1979" "0" "c.1979G>A" "r.(?)" "p.(Gly660Asp)" "25" "0000353774" "00005465" "90" "2529" "0" "2537" "0" "c.2529_2537delinsAT" "r.(?)" "p.(Tyr844Leufs*23)" "29" "0000353775" "00005465" "90" "3506" "-1" "3506" "-1" "c.3506-1G>C" "r.spl" "p.?" "37i" "0000353783" "00005465" "70" "81" "0" "86" "0" "c.81_86del" "r.(?)" "p.(Ile29_Leu30del)" "3" "0000353794" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000353799" "00005465" "70" "4522" "0" "4522" "0" "c.4522G>A" "r.(?)" "p.(Gly1508Ser)" "47" "0000353805" "00005465" "70" "81" "0" "86" "0" "c.81_86del" "r.(?)" "p.(Ile29_Leu30del)" "3" "0000353806" "00005465" "90" "694" "-1" "694" "-1" "c.694-1G>C" "r.spl" "p.?" "11i" "0000353808" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000353819" "00005465" "90" "3913" "0" "3914" "0" "c.3913_3914delinsG" "r.(?)" "p.(Pro1305Aspfs*83)" "41" "0000353821" "00005465" "90" "2462" "0" "2469" "0" "c.2462_2469delinsATT" "r.(?)" "p.(Pro821Hisfs*7)" "29" "0000353822" "00005465" "90" "3506" "-1" "3506" "-1" "c.3506-1G>C" "r.spl" "p.?" "37i" "0000353823" "00005465" "90" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000353824" "00005465" "70" "2039" "0" "2039" "0" "c.2039G>A" "r.(?)" "p.(Gly680Asp)" "26" "0000353827" "00005465" "50" "4334" "-23" "4334" "-23" "c.4334-23A>G" "r.(?)" "p.(=)" "45i" "0000353830" "00005465" "50" "114" "2" "114" "4" "c.114+2_114+4dup" "r.spl?" "p.?" "3i" "0000353838" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000353839" "00005465" "90" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" 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"p.(Lys662Ile)" "25" "0000354257" "00005465" "70" "1986" "0" "1986" "0" "c.1986A>T" "r.(?)" "p.(Lys662Asn)" "25" "0000354259" "00005465" "00" "2075" "0" "2075" "0" "c.2075G>T" "r.(?)" "p.(Gly692Val)" "27" "0000354261" "00005465" "00" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Gly722Ser)" "27" "0000354262" "00005465" "00" "2075" "0" "2075" "0" "c.2075G>T" "r.(?)" "p.(Gly692Val)" "27" "0000354263" "00005465" "90" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Gly695Asp)" "27" "0000354264" "00005465" "90" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Gly695Asp)" "27" "0000354265" "00005465" "00" "2320" "0" "2320" "0" "c.2320G>C" "r.(?)" "p.(Gly774Arg)" "28" "0000354266" "00005465" "00" "2322" "0" "2322" "0" "c.2322del" "r.(?)" "p.(Leu775Phefs*7)" "28" "0000354267" "00005465" "00" "2171" "0" "2171" "0" "c.2171del" "r.(?)" "p.(Arg724Leufs*29)" "28" "0000354268" "00005465" "00" "2219" "0" "2219" "0" "c.2219dup" "r.(?)" "p.(Val741Cysfs*47)" "28" "0000354269" "00005465" "00" "2420" "0" "2420" "0" "c.2420del" "r.(?)" "p.(Gly807Valfs*62)" "29" "0000354270" "00005465" "00" "2429" "0" "2429" "0" "c.2429G>A" "r.(?)" "p.(Gly810Asp)" "29" "0000354272" "00005465" "90" "2510" "0" "2510" "0" "c.2510G>C" "r.(?)" "p.(Gly837Ala)" "29" "0000354273" "00005465" "00" "2573" "0" "2573" "0" "c.2573G>C" "r.(?)" "p.(Gly858Ala)" "30" "0000354274" "00005465" "90" "2608" "0" "2608" "0" "c.2608G>C" "r.(?)" "p.(Gly870Arg)" "30" "0000354275" "00005465" "90" "2616" "0" "2616" "0" "c.2616C>T" "r.(?)" "p.(=)" "30" "0000354276" "00005465" "00" "2690" "0" "2690" "0" "c.2690G>A" "r.(?)" "p.(Gly897Glu)" "30" "0000354277" "00005465" "00" "2690" "0" "2690" "0" "c.2690G>A" "r.(?)" "p.(Gly897Glu)" "30" "0000354278" "00005465" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Pro904Ser)" "30" "0000354279" "00005465" "70" "2717" "-5" "2717" "-5" "c.2717-5A>T" "r.spl?" "p.?" "30i" "0000354280" "00005465" "00" "2717" "-2" "2717" "-2" "c.2717-2A>G" "r.spl" "p.?" "30i" "0000354281" "00005465" "00" "2752" "0" "2752" "0" "c.2752G>A" "r.(?)" "p.(Gly918Arg)" "31" "0000354282" "00005465" "90" "2752" "0" "2752" "0" "c.2752G>A" "r.(?)" "p.(Gly918Arg)" "31" "0000354283" "00005465" "00" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000354284" "00005465" "00" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000354285" "00005465" "00" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000354286" "00005465" "90" "2968" "1" "2968" "1" "c.2968+1G>A" "r.spl" "p.?" "32i" "0000354287" "00005465" "00" "2986" "0" "2986" "0" "c.2986G>A" "r.(?)" "p.(Gly996Arg)" "33" "0000354288" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000354289" "00005465" "30" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Pro1004Leu)" "33" "0000354290" "00005465" "00" "3022" "0" "3022" "0" "c.3022G>A" "r.(?)" "p.(Gly1008Arg)" "33" "0000354291" "00005465" "90" "3125" "0" "3125" "0" "c.3125G>T" "r.(?)" "p.(Gly1042Val)" "33" "0000354292" "00005465" "00" "3213" "0" "3213" "0" "c.3213del" "r.(?)" "p.(Gly1072Glufs*69)" "34" "0000354293" "00005465" "00" "3213" "0" "3213" "0" "c.3213del" "r.(?)" "p.(Gly1072Glufs*69)" "34" "0000354294" "00005465" "00" "3307" "0" "3307" "0" "c.3307G>A" "r.(?)" "p.(Gly1103Arg)" "36" "0000354295" "00005465" "90" "3307" "0" "3307" "0" "c.3307G>A" "r.(?)" "p.(Gly1103Arg)" "36" "0000354296" "00005465" "00" "3452" "0" "3452" "0" "c.3452G>C" "r.(?)" "p.(Gly1151Ala)" "37" "0000354297" "00005465" "00" "3452" "0" "3452" "0" "c.3452G>C" "r.(?)" "p.(Gly1151Ala)" "37" "0000354298" "00005465" "90" "3541" "0" "3541" "0" "c.3541G>A" "r.(?)" "p.(Gly1181Arg)" "38" "0000354299" "00005465" "00" "3577" "1" "3577" "1" "c.3577+1G>A" "r.spl" "p.?" "38" "0000354300" "00005465" "00" "3697" "0" "3697" "0" "c.3697G>A" "r.(?)" "p.(Gly1233Arg)" "39" "0000354301" "00005465" "00" "3684" "0" "3684" "0" "c.3684del" "r.(?)" "p.(Gly1230Valfs*58)" "39" "0000354302" "00005465" "00" "3742" "0" "3742" "0" "c.3742G>T" "r.(?)" "p.(Gly1248*)" "40" "0000354303" "00005465" "50" "3817" "9" "3817" "9" "c.3817+9G>C" "r.(?)" "p.(=)" "40i" "0000354305" "00005465" "70" "3817" "1" "3817" "1" "c.3817+1G>T" "r.spl" "p.?" "40i" "0000354306" "00005465" "00" "3817" "1" "3817" "1" "c.3817+1G>T" "r.spl" "p.?" "40i" "0000354307" "00005465" "90" "3929" "0" "3929" "0" "c.3929G>A" "r.(?)" "p.(Gly1310Glu)" "41" "0000354308" "00005465" "90" "3933" "0" "3933" "0" "c.3933C>G" "r.(?)" "p.(Tyr1311*)" "41" "0000354309" "00005465" "30" "3979" "0" "3979" "0" "c.3979G>A" "r.(?)" "p.(Val1327Met)" "42" "0000354310" "00005465" "00" "4097" "0" "4097" "0" "c.4097del" "r.(?)" "p.(Pro1366Argfs*22)" "44" "0000354311" "00005465" "00" "4195" "0" "4195" "0" "c.4195A>T" "r.(?)" "p.(Met1399Leu)" "44" "0000354312" "00005465" "00" "4129" "0" "4129" "0" "c.4129C>T" "r.(?)" "p.(Arg1377*)" "44" "0000354313" "00005465" "30" "4207" "0" "4207" "0" "c.4207T>C" "r.(?)" "p.(Ser1403Pro)" "44" "0000354314" "00005465" "00" "4208" "0" "4208" "0" "c.4208dup" "r.(?)" "p.(Gly1404Argfs*29)" "44" "0000354315" "00005465" "00" "4267" "0" "4267" "0" "c.4267C>T" "r.(?)" "p.(Pro1423Ser)" "45" "0000354316" "00005465" "00" "4394" "0" "4394" "0" "c.4394G>A" "r.(?)" "p.(Gly1465Asp)" "46" "0000354317" "00005465" "00" "4444" "0" "4444" "0" "c.4444del" "r.(?)" "p.(Leu1482Trpfs*70)" "46" "0000354318" "00005465" "30" "4394" "0" "4394" "0" "c.4394G>A" "r.(?)" "p.(Gly1465Asp)" "46" "0000354319" "00005465" "00" "4570" "0" "4570" "0" "c.4570del" "r.(?)" "p.(Tyr1524Thrfs*28)" "47" "0000354320" "00005465" "00" "4646" "0" "4646" "0" "c.4646del" "r.(?)" "p.(Leu1549Profs*3)" "47" "0000354321" "00005465" "00" "4693" "0" "4693" "0" "c.4693C>T" "r.(?)" "p.(Arg1565Cys)" "47" "0000354322" "00005465" "00" "4698" "0" "4698" "0" "c.4698del" "r.(?)" "p.(Cys1566Trpfs*37)" "47" "0000354323" "00005465" "00" "4698" "0" "4698" "0" "c.4698del" "r.(?)" "p.(Cys1566Trpfs*37)" "47" "0000354324" "00005465" "00" "4698" "0" "4698" "0" "c.4698del" "r.(?)" "p.(Cys1566Trpfs*37)" "47" "0000354326" "00005465" "00" "4760" "0" "4760" "0" "c.4760C>G" "r.(?)" "p.(Pro1587Arg)" "47" "0000354327" "00005465" "00" "4820" "0" "4820" "0" "c.4820del" "r.(?)" "p.(Ala1607Valfs*49)" "48" "0000354328" "00005465" "00" "4847" "0" "4847" "0" "c.4847T>G" "r.(?)" "p.(Leu1616Arg)" "48" "0000354329" "00005465" "50" "4945" "0" "4945" "0" "c.4945A>G" "r.(?)" "p.(Ser1649Gly)" "48" "0000354330" "00005465" "90" "4953" "0" "4953" "0" "c.4953G>A" "r.(?)" "p.(Trp1651*)" "48" "0000354331" "00005465" "00" "5013" "0" "5017" "0" "c.5013_5017del" "r.(?)" "p.(Glu1672Profs*17)" "48" "0000354332" "00005465" "00" "5045" "0" "5045" "0" "c.5045G>A" "r.(?)" "p.(Arg1682Gln)" "48" "0000354333" "00005465" "00" "5045" "0" "5045" "0" "c.5045G>A" "r.(?)" "p.(Arg1682Gln)" "48" "0000354334" "00005465" "00" "5048" "0" "5048" "0" "c.5048G>A" "r.(?)" "p.(Cys1683Tyr)" "48" "0000354335" "00005465" "90" "5049" "0" "5049" "0" "c.5049C>A" "r.(?)" "p.(Cys1683*)" "48" "0000354736" "00005465" "50" "2717" "-3" "2717" "-3" "c.2717-3C>T" "r.(?)" "p.?" "" "0000354739" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000354744" "00005465" "50" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Arg)" "28" "0000354746" "00005465" "70" "4217" "-1" "4333" "1" "c.(4216+1_4217-1)_(4333+1_4334-1)del" "r.?" "p.?" "44i_45i" "0000354751" "00005465" "50" "3260" "0" "3260" "0" "c.3260A>C" "r.(?)" "p.(Lys1087Thr)" "35" "0000354755" "00005465" "50" "4058" "0" "4058" "0" "c.4058G>A" "r.(?)" "p.(Arg1353Lys)" "42" "0000354757" "00005465" "70" "1327" "0" "1344" "0" "c.1327_1344del" "r.(?)" "p.(Pro444_Leu449del)" "20" "0000354759" "00005465" "50" "3232" "0" "3232" "0" "c.3232G>A" "r.(?)" "p.(Ala1078Thr)" "35" "0000354762" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000354764" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000354770" "00005465" "50" "86" "0" "86" "0" "c.86T>A" "r.(?)" "p.(Ile29Asn)" "3" "0000354774" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000354776" "00005465" "50" "4334" "-3" "4334" "-3" "c.4334-3del" "r.(?)" "p.?" "45i" "0000354778" "00005465" "50" "1074" "0" "1074" "0" "c.1074G>C" "r.(?)" "p.(Leu358Phe)" "18" "0000354780" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000354782" "00005465" "90" "2214" "0" "2236" "0" "c.2214_2236delinsA" "r.(?)" "p.(Ser739Leufs*7)" "28" "0000354785" "00005465" "50" "50" "0" "50" "0" "c.50A>G" "r.(?)" "p.(Lys17Arg)" "2" "0000354787" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000354790" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000354792" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000354796" "00005465" "50" "1369" "10" "1369" "10" "c.1369+10T>G" "r.(?)" "p.(=)" "20i" "0000354798" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000354799" "00005465" "50" "755" "0" "755" "0" "c.755G>N" "r.(?)" "p.(Arg1006Ser)" "13" "0000354800" "00005465" "50" "3018" "0" "3018" "0" "c.3018A>T" "r.(?)" "p.(Arg1006Ser)" "33" "0000354801" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "33" "0000354808" "00005465" "70" "1943" "0" "1943" "0" "c.1943G>A" "r.(?)" "p.(Gly648Asp)" "25" "0000354809" "00005465" "70" "3061" "0" "3061" "0" "c.3061G>C" "r.(?)" "p.(Gly1021Arg)" "33" "0000354813" "00005465" "90" "-1" "0" "192" "1" "c.(?_-1)_(192+1_193-1)del" "r.0?" "p.0?" "_1_4i" "0000354820" "00005465" "00" "3452" "0" "3452" "0" "c.3452G>C" "r.(?)" "p.(Gly1151Ala)" "37" "0000354823" "00005465" "00" "1223" "0" "1224" "0" "c.1223_1224del" "r.(?)" "p.(Gly408Alafs*21)" "21" "0000354826" "00005465" "00" "1293" "0" "1310" "0" "c.1293_1310del" "r.(?)" "p.(Lys434_Gly439del)" "20" "0000354828" "00005465" "00" "4698" "0" "4698" "0" "c.4698del" "r.(?)" "p.(Cys1566Trpfs*37)" "47" "0000354836" "00005465" "70" "1459" "1" "1459" "1" "c.1459+1G>A" "r.spl" "p.?" "21i" "0000354846" "00005465" "00" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Gly518Glu)" "22" "0000354854" "00005465" "00" "931" "-2" "931" "-2" "c.931-2A>G" "r.(?)" "p.?" "15i" "0000354855" "00005465" "00" "3697" "0" "3697" "0" "c.3697G>A" "r.(?)" "p.(Gly1233Arg)" "43" "0000354860" "00005465" "00" "5045" "0" "5045" "0" "c.5045G>A" "r.(?)" "p.(Arg1682Gln)" "48" "0000354861" "00005465" "00" "2906" "0" "2906" "0" "c.2906C>G" "r.(?)" "p.(Ser969*)" "32" "0000354864" "00005465" "90" "2878" "0" "2878" "0" "c.2878G>A" "r.(?)" "p.(Gly960Arg)" "32" "0000354865" "00005465" "00" "5045" "0" "5045" "0" "c.5045G>A" "r.(?)" "p.(Arg1682Gln)" "48" "0000354874" "00005465" "00" "4760" "0" "4760" "0" "c.4760C>G" "r.(?)" "p.(Pro1587Arg)" "47" "0000354876" "00005465" "70" "-23" "0" "-23" "0" "c.-23T>G" "r.(?)" "p.(=)" "2" "0000354877" "00005465" "90" "4241" "0" "4254" "0" "c.4241_4254del" "r.(?)" "p.(Asp1414Glyfs*14)" "45" "0000354882" "00005465" "90" "3612" "0" "3621" "0" "c.3612_3621del" "r.(?)" "p.(Ile1205*)" "39" "0000354883" "00005465" "90" "4469" "0" "4469" "0" "c.4469G>C" "r.(?)" "p.(Gly1490Ala)" "46" "0000354884" "00005465" "90" "3151" "0" "3151" "0" "c.3151G>C" "r.(?)" "p.(Gly1051Arg)" "34" "0000354885" "00005465" "90" "3687" "0" "3687" "0" "c.3687dup" "r.(?)" "p.(Gly1230Argfs*23)" "39" "0000354887" "00005465" "00" "1459" "1" "1459" "1" "c.1459+1G>A" "r.spl" "p.?" "21i" "0000354889" "00005465" "00" "5047" "0" "5047" "0" "c.5047T>G" "r.(?)" "p.(Cys1683Gly)" "48" "0000354894" "00005465" "00" "4090" "11" "4090" "11" "c.4090+11C>T" "r.(?)" "p.(=)" "43i" "0000354899" "00005465" "00" "976" "-56" "976" "-56" "c.976-56A>G" "r.(?)" "p.(=)" "16i" "0000354900" "00005465" "00" "2075" "0" "2075" "0" "c.2075G>T" "r.(?)" "p.(Gly692Val)" "27" "0000354902" "00005465" "70" "1623" "5" "1623" "5" "c.1623+5G>T" "r.spl" "p.?" "22i" "0000354903" "00005465" "00" "4760" "0" "4760" "0" "c.4760C>G" "r.(?)" "p.(Pro1587Arg)" "47" "0000354907" "00005465" "90" "4129" "0" "4129" "0" "c.4129C>T" "r.(?)" "p.(Arg1377*)" "44" "0000354908" "00005465" "70" "3817" "1" "3817" "1" "c.3817+1G>T" "r.spl" "p.?" "40i" "0000354909" "00005465" "00" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Gly722Ser)" "27" "0000354910" "00005465" "70" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Pro1572Leu)" "47" "0000354913" "00005465" "50" "3668" "0" "3668" "0" "c.3668C>T" "r.(?)" "p.(Pro1223Leu)" "39" "0000354917" "00005465" "50" "2189" "0" "2189" "0" "c.2189C>T" "r.(?)" "p.(Pro730Leu)" "28" "0000437562" "00005465" "50" "839" "0" "839" "0" "c.839T>G" "r.(?)" "p.(Met280Arg)" "" "0000501328" "00005465" "70" "193" "-2" "193" "-2" "c.193-2A>C" "r.spl" "p.?" "4i" "0000514902" "00005465" "50" "4760" "0" "4760" "0" "c.4760C>G" "r.(?)" "p.(Pro1587Arg)" "" "0000514904" "00005465" "90" "4481" "0" "4481" "0" "c.4481T>A" "r.(?)" "p.(Leu1494Ter)" "" "0000514905" "00005465" "50" "4394" "0" "4394" "0" "c.4394G>A" "r.(?)" "p.(Gly1465Asp)" "" "0000514906" "00005465" "30" "4349" "0" "4349" "0" "c.4349T>C" "r.(?)" "p.(Ile1450Thr)" "" "0000514907" "00005465" "30" "4007" "0" "4007" "0" "c.4007A>G" "r.(?)" "p.(His1336Arg)" "" "0000514908" "00005465" "50" "3743" "0" "3743" "0" "c.3743G>A" "r.(?)" "p.(Gly1248Glu)" "" "0000514910" "00005465" "10" "3233" "0" "3233" "0" "c.3233C>T" "r.(?)" "p.(Ala1078Val)" "" "0000514911" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "" "0000514912" "00005465" "30" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "" "0000514913" "00005465" "10" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "" "0000514914" "00005465" "30" "2899" "0" "2899" "0" "c.2899A>G" "r.(?)" "p.(Ile967Val)" "" "0000514915" "00005465" "70" "2662" "0" "2662" "0" "c.2662G>A" "r.(?)" "p.(Gly888Arg)" "" "0000514916" "00005465" "10" "2630" "0" "2630" "0" "c.2630G>A" "r.(?)" "p.(Arg877Gln)" "" "0000514917" "00005465" "30" "2322" "0" "2322" "0" "c.2322T>A" "r.(?)" "p.(Gly774=)" "" "0000514918" "00005465" "50" "2320" "0" "2320" "0" "c.2320G>C" "r.(?)" "p.(Gly774Arg)" "" "0000514920" "00005465" "30" "2241" "0" "2241" "0" "c.2241C>T" "r.(?)" "p.(Pro747=)" "" "0000514922" "00005465" "30" "2190" "0" "2190" "0" "c.2190G>A" "r.(?)" "p.(Pro730=)" "" "0000514923" "00005465" "10" "2164" "28" "2164" "34" "c.2164+28_2164+34dup" "r.(=)" "p.(=)" "" "0000514924" "00005465" "30" "2164" "8" "2164" "8" "c.2164+8A>T" "r.(=)" "p.(=)" "" "0000514925" "00005465" "10" "2056" "55" "2056" "56" "c.2056+55_2056+56del" "r.(=)" "p.(=)" "" "0000514927" "00005465" "30" "1833" "0" "1833" "0" "c.1833T>C" "r.(?)" "p.(Gly611=)" "" "0000514928" "00005465" "10" "1833" "0" "1833" "0" "c.1833T>C" "r.(?)" "p.(Gly611=)" "" "0000514929" "00005465" "30" "1662" "0" "1662" "0" "c.1662G>C" "r.(?)" "p.(Gly554=)" "" "0000514931" "00005465" "10" "1623" "33" "1623" "33" "c.1623+33A>G" "r.(=)" "p.(=)" "" "0000514934" "00005465" "10" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Pro482Ser)" "" "0000514935" "00005465" "30" "1271" "0" "1271" "0" "c.1271T>C" "r.(?)" "p.(Ile424Thr)" "" "0000514936" "00005465" "50" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Ser318Phe)" "" "0000514938" "00005465" "10" "666" "0" "666" "0" "c.666G>A" "r.(?)" "p.(Pro222=)" "" "0000514939" "00005465" "10" "666" "0" "666" "0" "c.666G>A" "r.(?)" "p.(Pro222=)" "" "0000514940" "00005465" "50" "482" "0" "482" "0" "c.482G>T" "r.(?)" "p.(Gly161Val)" "" "0000514941" "00005465" "70" "481" "0" "481" "0" "c.481G>C" "r.(?)" "p.(Gly161Arg)" "" "0000514942" "00005465" "30" "-101" "-4" "-101" "-4" "c.-101-4A>G" "r.spl?" "p.?" "" "0000514943" "00005465" "30" "-101" "-4" "-101" "-4" "c.-101-4A>G" "r.spl?" "p.?" "" "0000607557" "00005465" "70" "5048" "0" "5048" "0" "c.5048G>A" "r.(?)" "p.(Cys1683Tyr)" "" "0000607558" "00005465" "50" "4982" "0" "4982" "0" "c.4982T>A" "r.(?)" "p.(Phe1661Tyr)" "" "0000607559" "00005465" "10" "4932" "0" "4932" "0" "c.4932C>T" "r.(?)" "p.(Phe1644=)" "" "0000607560" "00005465" "50" "4924" "0" "4924" "0" "c.4924C>T" "r.(?)" "p.(His1642Tyr)" "" "0000607562" "00005465" "70" "4781" "0" "4807" "0" "c.4781_4807dup" "r.(?)" "p.(Ser1594_Leu1602dup)" "" "0000607563" "00005465" "90" "4788" "0" "4788" "0" "c.4788G>A" "r.(?)" "p.(Trp1596Ter)" "" "0000607564" "00005465" "90" "4787" "0" "4787" "0" "c.4787G>A" "r.(?)" "p.(Trp1596Ter)" "" "0000607565" "00005465" "50" "4760" "0" "4760" "0" "c.4760C>G" "r.(?)" "p.(Pro1587Arg)" "" "0000607566" "00005465" "90" "4720" "0" "4720" "0" "c.4720C>T" "r.(?)" "p.(Gln1574Ter)" "" "0000607567" "00005465" "90" "4559" "0" "4559" "0" "c.4559del" "r.(?)" "p.(Leu1520ArgfsTer32)" "" "0000607568" "00005465" "10" "4548" "0" "4548" "0" "c.4548A>G" "r.(?)" "p.(Val1516=)" "" "0000607569" "00005465" "70" "4523" "-1" "4523" "-1" "c.4523-1G>A" "r.spl?" "p.?" "" "0000607570" "00005465" "10" "4523" "-8" "4523" "-8" "c.4523-8T>C" "r.(=)" "p.(=)" "" "0000607571" "00005465" "70" "4513" "0" "4513" "0" "c.4513C>G" "r.(?)" "p.(Gln1505Glu)" "" "0000607572" "00005465" "90" "4444" "0" "4444" "0" "c.4444del" "r.(?)" "p.(Leu1482TrpfsTer70)" "" "0000607573" "00005465" "50" "4421" "0" "4421" "0" "c.4421C>T" "r.(?)" "p.(Thr1474Met)" "" "0000607574" "00005465" "70" "4394" "0" "4394" "0" "c.4394G>A" "r.(?)" "p.(Gly1465Asp)" "" "0000607575" "00005465" "30" "4349" "0" "4349" "0" "c.4349T>C" "r.(?)" "p.(Ile1450Thr)" "" "0000607576" "00005465" "30" "4334" "-3" "4334" "-3" "c.4334-3del" "r.spl?" "p.?" "" "0000607577" "00005465" "50" "4332" "0" "4332" "0" "c.4332A>G" "r.(?)" "p.(Pro1444=)" "" "0000607578" "00005465" "30" "4217" "-15" "4217" "-15" "c.4217-15T>C" "r.(=)" "p.(=)" "" "0000607579" "00005465" "10" "4217" "-24" "4217" "-24" "c.4217-24C>T" "r.(=)" "p.(=)" "" "0000607580" "00005465" "30" "4152" "0" "4152" "0" "c.4152G>A" "r.(?)" "p.(Ala1384=)" "" "0000607581" "00005465" "30" "4152" "0" "4152" "0" "c.4152G>A" "r.(?)" "p.(Ala1384=)" "" "0000607582" "00005465" "90" "4129" "0" "4129" "0" "c.4129C>T" "r.(?)" "p.(Arg1377Ter)" "" "0000607583" "00005465" "90" "4097" "0" "4097" "0" "c.4097dup" "r.(?)" "p.(Pro1368AlafsTer7)" "" "0000607584" "00005465" "10" "4091" "-36" "4091" "-36" "c.4091-36G>A" "r.(=)" "p.(=)" "" "0000607585" "00005465" "70" "4082" "0" "4082" "0" "c.4082G>A" "r.(?)" "p.(Gly1361Asp)" "" "0000607586" "00005465" "30" "4082" "-8" "4082" "-8" "c.4082-8C>T" "r.(=)" "p.(=)" "" "0000607587" "00005465" "30" "4081" "35" "4081" "35" "c.4081+35A>G" "r.(=)" "p.(=)" "" "0000607588" "00005465" "10" "4080" "0" "4080" "0" "c.4080G>A" "r.(?)" "p.(Pro1360=)" "" "0000607589" "00005465" "30" "4041" "0" "4041" "0" "c.4041A>G" "r.(?)" "p.(Leu1347=)" "" "0000607590" "00005465" "10" "3979" "0" "3979" "0" "c.3979G>A" "r.(?)" "p.(Val1327Met)" "" "0000607591" "00005465" "10" "3973" "34" "3973" "34" "c.3973+34T>C" "r.(=)" "p.(=)" "" "0000607592" "00005465" "10" "3963" "0" "3963" "0" "c.3963T>C" "r.(?)" "p.(Asp1321=)" "" "0000607593" "00005465" "70" "3875" "0" "3875" "0" "c.3875G>A" "r.(?)" "p.(Gly1292Asp)" "" "0000607594" "00005465" "50" "3847" "0" "3847" "0" "c.3847A>C" "r.(?)" "p.(Ser1283Arg)" "" "0000607595" "00005465" "30" "3818" "-45" "3818" "-45" "c.3818-45T>A" "r.(=)" "p.(=)" "" "0000607596" "00005465" "10" "3817" "9" "3817" "9" "c.3817+9G>C" "r.(=)" "p.(=)" "" "0000607597" "00005465" "70" "3817" "1" "3817" "1" "c.3817+1G>T" "r.spl?" "p.?" "" "0000607598" "00005465" "70" "3817" "0" "3817" "0" "c.3817G>A" "r.(?)" "p.(Gly1273Arg)" "" "0000607599" "00005465" "70" "3776" "0" "3776" "0" "c.3776del" "r.(?)" "p.(Pro1259HisfsTer29)" "" "0000607600" "00005465" "70" "3697" "0" "3697" "0" "c.3697G>C" "r.(?)" "p.(Gly1233Arg)" "" "0000607601" "00005465" "10" "3684" "0" "3684" "0" "c.3684G>A" "r.(?)" "p.(Lys1228=)" "" "0000607602" "00005465" "10" "3594" "0" "3594" "0" "c.3594G>A" "r.(?)" "p.(Gly1198=)" "" "0000607603" "00005465" "70" "3514" "0" "3514" "0" "c.3514G>A" "r.(?)" "p.(Gly1172Arg)" "" "0000607604" "00005465" "10" "3486" "0" "3486" "0" "c.3486A>G" "r.(?)" "p.(Pro1162=)" "" "0000607605" "00005465" "30" "3454" "0" "3454" "0" "c.3454C>T" "r.(?)" "p.(Pro1152Ser)" "" "0000607606" "00005465" "30" "3290" "-34" "3290" "-34" "c.3290-34C>T" "r.(=)" "p.(=)" "" "0000607607" "00005465" "30" "3289" "21" "3289" "21" "c.3289+21T>C" "r.(=)" "p.(=)" "" "0000607608" "00005465" "70" "3289" "1" "3289" "1" "c.3289+1G>T" "r.spl?" "p.?" "" "0000607609" "00005465" "30" "3108" "0" "3108" "0" "c.3108T>C" "r.(?)" "p.(Gly1036=)" "" "0000607610" "00005465" "70" "3089" "0" "3089" "0" "c.3089G>C" "r.(?)" "p.(Gly1030Ala)" "" "0000607611" "00005465" "70" "3044" "0" "3044" "0" "c.3044G>A" "r.(?)" "p.(Gly1015Glu)" "" "0000607612" "00005465" "10" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Pro1004Leu)" "" "0000607613" "00005465" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "" "0000607614" "00005465" "30" "2968" "26" "2968" "26" "c.2968+26T>A" "r.(=)" "p.(=)" "" "0000607615" "00005465" "30" "2907" "0" "2907" "0" "c.2907A>C" "r.(?)" "p.(Ser969=)" "" "0000607616" "00005465" "30" "2899" "0" "2899" "0" "c.2899A>G" "r.(?)" "p.(Ile967Val)" "" "0000607617" "00005465" "30" "2861" "-3" "2861" "-3" "c.2861-3T>C" "r.spl?" "p.?" "" "0000607618" "00005465" "70" "2752" "0" "2752" "0" "c.2752G>A" "r.(?)" "p.(Gly918Arg)" "" "0000607619" "00005465" "90" "2748" "0" "2748" "0" "c.2748dup" "r.(?)" "p.(Pro917SerfsTer46)" "" "0000607620" "00005465" "30" "2717" "-5" "2717" "-5" "c.2717-5A>T" "r.spl?" "p.?" "" "0000607621" "00005465" "30" "2634" "0" "2634" "0" "c.2634T>A" "r.(?)" "p.(Pro878=)" "" "0000607622" "00005465" "30" "2630" "0" "2630" "0" "c.2630G>A" "r.(?)" "p.(Arg877Gln)" "" "0000607623" "00005465" "70" "2617" "0" "2617" "0" "c.2617G>A" "r.(?)" "p.(Gly873Arg)" "" "0000607624" "00005465" "70" "2438" "0" "2438" "0" "c.2438del" "r.(?)" "p.(Gly813AspfsTer56)" "" "0000607625" "00005465" "70" "2435" "0" "2435" "0" "c.2435del" "r.(?)" "p.(Glu812GlyfsTer57)" "" "0000607626" "00005465" "10" "2384" "-5" "2384" "-5" "c.2384-5T>C" "r.spl?" "p.?" "" "0000607627" "00005465" "30" "2384" "-88" "2384" "-87" "c.2384-88_2384-87del" "r.(=)" "p.(=)" "" "0000607628" "00005465" "10" "2367" "0" "2367" "0" "c.2367A>T" "r.(?)" "p.(Gly789=)" "" "0000607629" "00005465" "70" "2320" "0" "2320" "0" "c.2320G>C" "r.(?)" "p.(Gly774Arg)" "" "0000607630" "00005465" "50" "2309" "0" "2309" "0" "c.2309C>T" "r.(?)" "p.(Pro770Leu)" "" "0000607631" "00005465" "30" "2276" "0" "2276" "0" "c.2276C>T" "r.(?)" "p.(Pro759Leu)" "" "0000607632" "00005465" "70" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Gly725Asp)" "" "0000607633" "00005465" "30" "2165" "-15" "2165" "-15" "c.2165-15T>G" "r.(=)" "p.(=)" "" "0000607634" "00005465" "10" "2165" "-13" "2165" "-13" "c.2165-13del" "r.(=)" "p.(=)" "" "0000607635" "00005465" "10" "2165" "-22" "2165" "-22" "c.2165-22dup" "r.(=)" "p.(=)" "" "0000607636" "00005465" "30" "2164" "16" "2164" "16" "c.2164+16T>G" "r.(=)" "p.(=)" "" "0000607637" "00005465" "30" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Pro721Ser)" "" "0000607638" "00005465" "30" "2144" "0" "2144" "0" "c.2144C>T" "r.(?)" "p.(Ala715Val)" "" "0000607639" "00005465" "70" "2038" "0" "2038" "0" "c.2038G>A" "r.(?)" "p.(Gly680Ser)" "" "0000607640" "00005465" "70" "1960" "0" "1960" "0" "c.1960G>C" "r.(?)" "p.(Gly654Arg)" "" "0000607641" "00005465" "30" "1893" "0" "1893" "0" "c.1893A>G" "r.(?)" "p.(Gly631=)" "" "0000607642" "00005465" "90" "1848" "0" "1848" "0" "c.1848del" "r.(?)" "p.(Pro617LeufsTer36)" "" "0000607643" "00005465" "70" "1848" "0" "1848" "0" "c.1848del" "r.(?)" "p.(Pro617LeufsTer36)" "" "0000607644" "00005465" "30" "1833" "0" "1833" "0" "c.1833T>C" "r.(?)" "p.(Gly611=)" "" "0000607645" "00005465" "50" "1804" "-26" "1804" "-26" "c.1804-26A>G" "r.(=)" "p.(=)" "" "0000607646" "00005465" "30" "1781" "0" "1781" "0" "c.1781A>G" "r.(?)" "p.(Glu594Gly)" "" "0000607647" "00005465" "90" "1663" "0" "1663" "0" "c.1663dup" "r.(?)" "p.(Ala555GlyfsTer4)" "" "0000607648" "00005465" "50" "1634" "0" "1634" "0" "c.1634G>C" "r.(?)" "p.(Gly545Ala)" "" "0000607649" "00005465" "30" "1623" "12" "1623" "12" "c.1623+12T>C" "r.(=)" "p.(=)" "" "0000607650" "00005465" "90" "1623" "1" "1623" "1" "c.1623+1G>A" "r.spl?" "p.?" "" "0000607651" "00005465" "90" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Asp)" "" "0000607652" "00005465" "30" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Lys)" "" "0000607653" "00005465" "10" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Pro482Ser)" "" "0000607654" "00005465" "70" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Gly481Ser)" "" "0000607655" "00005465" "70" "1396" "0" "1396" "0" "c.1396G>A" "r.(?)" "p.(Gly466Arg)" "" "0000607656" "00005465" "70" "1370" "-1" "1370" "-1" "c.1370-1G>A" "r.spl?" "p.?" "" "0000607657" "00005465" "70" "1369" "1" "1369" "1" "c.1369+1G>A" "r.spl?" "p.?" "" "0000607658" "00005465" "30" "1205" "-9" "1205" "-9" "c.1205-9A>G" "r.(=)" "p.(=)" "" "0000607659" "00005465" "30" "1202" "0" "1202" "0" "c.1202C>T" "r.(?)" "p.(Ala401Val)" "" "0000607660" "00005465" "30" "948" "0" "948" "0" "c.948T>C" "r.(?)" "p.(Tyr316=)" "" "0000607661" "00005465" "70" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Gly299Arg)" "" "0000607662" "00005465" "50" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Tyr268Cys)" "" "0000607663" "00005465" "30" "750" "0" "750" "0" "c.750G>A" "r.(?)" "p.(Gln250=)" "" "0000607664" "00005465" "50" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Pro245=)" "" "0000607665" "00005465" "70" "694" "0" "694" "0" "c.694G>C" "r.(?)" "p.(Gly232Arg)" "" "0000607666" "00005465" "50" "680" "0" "680" "0" "c.680G>C" "r.(?)" "p.(Arg227Pro)" "" "0000607667" "00005465" "30" "666" "0" "666" "0" "c.666G>A" "r.(?)" "p.(Pro222=)" "" "0000607668" "00005465" "10" "658" "-39" "658" "-39" "c.658-39T>C" "r.(=)" "p.(=)" "" "0000607669" "00005465" "70" "595" "-2" "595" "-2" "c.595-2A>G" "r.spl?" "p.?" "" "0000607670" "00005465" "30" "595" "-67" "595" "-67" "c.595-67G>A" "r.(=)" "p.(=)" "" "0000607671" "00005465" "10" "559" "-21" "559" "-21" "c.559-21A>G" "r.(=)" "p.(=)" "" "0000607672" "00005465" "30" "558" "118" "558" "118" "c.558+118C>A" "r.(=)" "p.(=)" "" "0000607673" "00005465" "30" "490" "-36" "490" "-36" "c.490-36A>G" "r.(=)" "p.(=)" "" "0000607674" "00005465" "10" "490" "-40" "490" "-40" "c.490-40T>C" "r.(=)" "p.(=)" "" "0000607675" "00005465" "70" "328" "-1" "328" "-1" "c.328-1G>A" "r.spl?" "p.?" "" "0000607676" "00005465" "70" "293" "0" "293" "0" "c.293del" "r.(?)" "p.(Gly98AlafsTer23)" "" "0000607677" "00005465" "30" "198" "0" "198" "0" "c.198A>G" "r.(?)" "p.(Pro66=)" "" "0000607678" "00005465" "30" "195" "0" "195" "0" "c.195T>C" "r.(?)" "p.(Gly65=)" "" "0000607679" "00005465" "50" "102" "0" "102" "0" "c.102A>G" "r.(?)" "p.(Gln34=)" "" "0000607680" "00005465" "30" "72" "-12" "72" "-12" "c.72-12G>A" "r.(=)" "p.(=)" "" "0000607681" "00005465" "70" "71" "1" "71" "1" "c.71+1G>A" "r.spl?" "p.?" "" "0000607682" "00005465" "70" "71" "1" "71" "1" "c.71+1del" "r.spl?" "p.?" "" "0000607683" "00005465" "10" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Ile6Thr)" "" "0000607684" "00005465" "30" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(=)" "" "0000607685" "00005465" "10" "-15" "0" "-15" "0" "c.-15T>C" "r.(?)" "p.(=)" "" "0000607686" "00005465" "30" "-812" "0" "-812" "0" "c.-812G>A" "r.(?)" "p.(=)" "" "0000607687" "00005465" "30" "-854" "0" "-854" "0" "c.-854C>A" "r.(?)" "p.(=)" "" "0000607688" "00005465" "50" "-874" "0" "-851" "0" "c.-874_-851del" "r.(?)" "p.(=)" "" "0000620978" "00005465" "30" "736" "-4" "736" "-4" "c.736-4del" "r.spl?" "p.?" "" "0000650477" "00005465" "50" "5914" "0" "5914" "0" "c.*841G>A" "r.(=)" "p.(=)" "" "0000650478" "00005465" "30" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Gly999Glu)" "" "0000654577" "00005465" "10" "3974" "-4" "3974" "-4" "c.3974-4dup" "r.spl?" "p.?" "" "0000654578" "00005465" "10" "2630" "0" "2630" "0" "c.2630G>A" "r.(?)" "p.(Arg877Gln)" "" "0000660429" "00005465" "90" "499" "0" "499" "0" "c.499G>C" "r.(?)" "p.(Gly167Arg)" "8" "0000660434" "00005465" "90" "1716" "0" "1716" "0" "c.1716del" "r.(?)" "p.(Pro573LeufsTer80)" "24" "0000660435" "00005465" "90" "2833" "0" "2833" "0" "c.2833G>A" "r.(?)" "p.(Gly945Arg)" "31" "0000676534" "00005465" "90" "2385" "0" "2385" "0" "c.2385del" "r.(?)" "p.(Pro796GlnfsTer8)" "" "0000676535" "00005465" "50" "816" "4" "816" "4" "c.816+4A>G" "r.spl?" "p.?" "" "0000684744" "00005465" "30" "2630" "0" "2630" "0" "c.2630G>A" "r.(?)" "p.(Arg877Gln)" "" "0000688671" "00005465" "90" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Pro1572Leu)" "" "0000688672" "00005465" "30" "4090" "14" "4090" "14" "c.4090+14T>C" "r.(=)" "p.(=)" "" "0000688673" "00005465" "90" "2833" "0" "2833" "0" "c.2833G>T" "r.(?)" "p.(Gly945Ter)" "" "0000688674" "00005465" "70" "490" "-1" "490" "-1" "c.490-1G>C" "r.spl?" "p.?" "" "0000712540" "00005465" "50" "4333" "3" "4333" "3" "c.4333+3A>G" "r.(?)" "p.?" "" "0000718552" "00005465" "10" "5317" "0" "5317" "0" "c.*244C>T" "r.(=)" "p.(=)" "" "0000718553" "00005465" "70" "4760" "0" "4760" "0" "c.4760dup" "r.(?)" "p.(Cys1588Metfs*46)" "" "0000718554" "00005465" "10" "4207" "0" "4207" "0" "c.4207T>C" "r.(?)" "p.(Ser1403Pro)" "" "0000718555" "00005465" "30" "4195" "0" "4195" "0" "c.4195A>T" "r.(?)" "p.(Met1399Leu)" "" "0000718556" "00005465" "10" "4081" "120" "4081" "120" "c.4081+120T>C" "r.(=)" "p.(=)" "" "0000718557" "00005465" "10" "3578" "-84" "3578" "-84" "c.3578-84T>C" "r.(=)" "p.(=)" "" "0000718558" "00005465" "10" "3215" "-66" "3215" "-66" "c.3215-66C>T" "r.(=)" "p.(=)" "" "0000718559" "00005465" "10" "3150" "92" "3150" "92" "c.3150+92C>A" "r.(=)" "p.(=)" "" "0000718560" "00005465" "30" "2877" "0" "2877" "0" "c.2877C>T" "r.(?)" "p.(Pro959=)" "" "0000718561" "00005465" "10" "2861" "-112" "2861" "-112" "c.2861-112G>C" "r.(=)" "p.(=)" "" "0000718562" "00005465" "10" "2861" "-142" "2861" "-142" "c.2861-142A>G" "r.(=)" "p.(=)" "" "0000718563" "00005465" "70" "2671" "0" "2671" "0" "c.2671G>A" "r.(?)" "p.(Gly891Ser)" "" "0000718564" "00005465" "10" "2545" "51" "2545" "51" "c.2545+51A>G" "r.(=)" "p.(=)" "" "0000718565" "00005465" "10" "2545" "46" "2545" "46" "c.2545+46A>T" "r.(=)" "p.(=)" "" "0000718566" "00005465" "10" "2164" "78" "2164" "78" "c.2164+78G>A" "r.(=)" "p.(=)" "" "0000718567" "00005465" "10" "1987" "91" "1987" "91" "c.1987+91T>C" "r.(=)" "p.(=)" "" "0000718568" "00005465" "90" "1118" "0" "1118" "0" "c.1118G>C" "r.(?)" "p.(Gly373Ala)" "" "0000718569" "00005465" "30" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Leu363Phe)" "" "0000718570" "00005465" "10" "1029" "72" "1029" "72" "c.1029+72G>A" "r.(=)" "p.(=)" "" "0000718571" "00005465" "10" "694" "-72" "694" "-72" "c.694-72G>T" "r.(=)" "p.(=)" "" "0000718572" "00005465" "10" "657" "67" "657" "67" "c.657+67A>G" "r.(=)" "p.(=)" "" "0000718573" "00005465" "10" "657" "48" "657" "48" "c.657+48A>G" "r.(=)" "p.(=)" "" "0000718574" "00005465" "10" "595" "-111" "595" "-111" "c.595-111T>C" "r.(=)" "p.(=)" "" "0000788034" "00005465" "90" "1697" "-1" "1987" "1" "c.(1696+1_1697-1)_(1987+1_1988-1)del" "r.?" "p.?" "23i_25i" "0000788035" "00005465" "90" "2690" "0" "2690" "0" "c.2690G>A" "r.(?)" "p.(Gly897Glu)" "" "0000788036" "00005465" "90" "3743" "0" "3743" "0" "c.3743G>A" "r.(?)" "p.(Gly1248Glu)" "" "0000788037" "00005465" "90" "3787" "0" "3787" "0" "c.3787C>T" "r.(?)" "p.(Gln1263*)" "" "0000790073" "00005465" "90" "4090" "2" "4090" "2" "c.4090+2T>G" "r.spl" "p.?" "" "0000795616" "00005465" "70" "1802" "0" "1802" "0" "c.1802del" "r.(?)" "p.(Pro601Glnfs*52)" "" "0000800433" "00005465" "50" "5045" "0" "5045" "0" "c.5045G>A" "r.(?)" "p.(Arg1682Gln)" "" "0000800434" "00005465" "70" "4495" "0" "4495" "0" "c.4495C>T" "r.(?)" "p.(Gln1499*)" "" "0000800435" "00005465" "30" "4334" "-3" "4334" "-3" "c.4334-3del" "r.spl?" "p.?" "" "0000800436" "00005465" "30" "4334" "-3" "4334" "-3" "c.4334-3del" "r.spl?" "p.?" "" "0000800437" "00005465" "30" "4217" "-15" "4217" "-15" "c.4217-15T>C" "r.(=)" "p.(=)" "" "0000800438" "00005465" "30" "3828" "0" "3828" "0" "c.3828G>A" "r.(?)" "p.(Gly1276=)" "" "0000800439" "00005465" "70" "3706" "0" "3706" "0" "c.3706G>A" "r.(?)" "p.(Gly1236Arg)" "" "0000800440" "00005465" "70" "3362" "0" "3362" "0" "c.3362G>A" "r.(?)" "p.(Gly1121Glu)" "" "0000800441" "00005465" "30" "3108" "0" "3108" "0" "c.3108T>C" "r.(?)" "p.(Gly1036=)" "" "0000800442" "00005465" "90" "3021" "0" "3021" "0" "c.3021C>A" "r.(?)" "p.(Tyr1007*)" "" "0000800443" "00005465" "30" "2629" "0" "2629" "0" "c.2629C>T" "r.(?)" "p.(Arg877Trp)" "" "0000800444" "00005465" "50" "2192" "0" "2192" "0" "c.2192G>A" "r.(?)" "p.(Gly731Asp)" "" "0000800445" "00005465" "70" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Gly725Asp)" "" "0000800446" "00005465" "50" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Asp)" "" "0000800447" "00005465" "90" "1045" "0" "1045" "0" "c.1045C>T" "r.(?)" "p.(Arg349*)" "" "0000800448" "00005465" "50" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Arg64Trp)" "" "0000827866" "00005465" "10" "2630" "0" "2630" "0" "c.2630G>A" "r.(?)" "p.(Arg877Gln)" "" "0000827867" "00005465" "50" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227His)" "" "0000836725" "00005465" "90" "72" "-26" "72" "-23" "c.72-26_72-23del" "r.72_r113del" "p.Trp24*" "2i" "0000836726" "00005465" "10" "1623" "570" "1623" "570" "c.1623+570A>G" "r.(=)" "p.(=)" "22i" "0000836727" "00005465" "10" "1804" "-158" "1804" "-158" "c.1804-158A>G" "r.(=)" "p.(=)" "24i" "0000836728" "00005465" "90" "1623" "702" "1623" "702" "c.1623+702T>A" "r.1623_1624ins1623+590_1623+698" "p.Gly542Alafs*29" "22i" "0000839856" "00005465" "90" "1231" "0" "1231" "0" "c.1231G>T" "r.(?)" "p.(Gly411*)" "20" "0000839857" "00005465" "90" "2690" "0" "2690" "0" "c.2690G>A" "r.(?)" "p.(Gly897Glu)" "30" "0000839858" "00005465" "90" "3022" "0" "3022" "0" "c.3022G>A" "r.(?)" "p.(Gly1008Arg)" "33" "0000839871" "00005465" "90" "3742" "0" "3742" "0" "c.3742G>T" "r.(?)" "p.(Gly1248*)" "40" "0000839872" "00005465" "90" "4208" "0" "4208" "0" "c.4208dup" "r.(?)" "p.(Gly1404Argfs*29)" "" "0000849764" "00005465" "30" "4760" "0" "4760" "0" "c.4760C>G" "r.(?)" "p.(Pro1587Arg)" "" "0000849765" "00005465" "30" "4611" "0" "4611" "0" "c.4611C>T" "r.(?)" "p.(Asn1537=)" "" "0000849766" "00005465" "10" "3963" "0" "3963" "0" "c.3963T>C" "r.(?)" "p.(Asp1321=)" "" "0000849767" "00005465" "30" "2907" "0" "2907" "0" "c.2907A>C" "r.(?)" "p.(Ser969=)" "" "0000849768" "00005465" "30" "2056" "10" "2056" "10" "c.2056+10A>G" "r.(=)" "p.(=)" "" "0000849769" "00005465" "90" "1848" "0" "1848" "0" "c.1848del" "r.(?)" "p.(Pro617LeufsTer36)" "" "0000849770" "00005465" "90" "1803" "2" "1803" "2" "c.1803+2T>C" "r.spl?" "p.?" "" "0000849771" "00005465" "50" "1514" "0" "1514" "0" "c.1514C>T" "r.(?)" "p.(Pro505Leu)" "" "0000849772" "00005465" "30" "1353" "0" "1353" "0" "c.1353C>T" "r.(?)" "p.(Gly451=)" "" "0000849773" "00005465" "70" "1118" "0" "1118" "0" "c.1118G>A" "r.(?)" "p.(Gly373Glu)" "" "0000849774" "00005465" "30" "195" "0" "195" "0" "c.195T>C" "r.(?)" "p.(Gly65=)" "" "0000849775" "00005465" "10" "71" "10" "71" "10" "c.71+10C>T" "r.(=)" "p.(=)" "" "0000858385" "00005465" "50" "4619" "0" "4619" "0" "c.4619C>A" "r.(?)" "p.(Ser1540Tyr)" "" "0000858386" "00005465" "30" "3818" "-15" "3818" "-15" "c.3818-15C>T" "r.(=)" "p.(=)" "" "0000858387" "00005465" "50" "3044" "0" "3044" "0" "c.3044G>A" "r.(?)" "p.(Gly1015Glu)" "" "0000858388" "00005465" "30" "2790" "0" "2790" "0" "c.2790C>T" "r.(?)" "p.(Gly930=)" "" "0000858389" "00005465" "90" "1623" "2" "1623" "2" "c.1623+2T>G" "r.spl?" "p.?" "" "0000858390" "00005465" "90" "81" "0" "86" "0" "c.81_86del" "r.(?)" "p.(Ile29_Leu30del)" "" "0000869079" "00005465" "70" "3022" "0" "3022" "0" "c.3022G>A" "r.(?)" "p.(Gly1008Arg)" "" "0000869986" "00005465" "70" "594" "1" "594" "1" "c.594+1G>A" "r.spl" "p.?" "" "0000873460" "00005465" "70" "1624" "-1" "1624" "-1" "c.1624-1G>A" "r.(?)" "p.(?)" "" "0000873501" "00005465" "70" "4333" "0" "4333" "0" "c.4333G>A" "r.(?)" "p.(Gly1445Arg)" "" "0000873502" "00005465" "70" "1505" "0" "1505" "0" "c.1505del" "r.(?)" "p.(Pro502Leufs*151)" "" "0000873515" "00005465" "70" "4214" "0" "4214" "0" "c.4214dup" "r.(?)" "p.(Gly1406Argfs*27)" "" "0000873517" "00005465" "70" "3647" "0" "3647" "0" "c.3647G>C" "r.(?)" "p.(Gly1216Ala)" "" "0000873581" "00005465" "70" "930" "1" "930" "1" "c.930+1G>A" "r.(?)" "p.(?)" "" "0000873632" "00005465" "70" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Arg)" "" "0000873633" "00005465" "70" "4333" "2" "4333" "2" "c.4333+2T>C" "r.(?)" "p.(?)" "" "0000873638" "00005465" "70" "870" "0" "870" "0" "c.870G>T" "r.(?)" "p.(Lys290Asn)" "" "0000879972" "00005465" "70" "558" "4" "558" "7" "c.558+4_558+7del" "r.490_558del" "p.164_186del" "" "0000884964" "00005465" "90" "4866" "0" "4866" "0" "c.4866C>A" "r.(?)" "p.(Cys1622Ter)" "" "0000884965" "00005465" "30" "4731" "0" "4731" "0" "c.4731G>A" "r.(?)" "p.(Ala1577=)" "" "0000884966" "00005465" "50" "4678" "0" "4678" "0" "c.4678C>T" "r.(?)" "p.(Arg1560Cys)" "" "0000884967" "00005465" "30" "4674" "0" "4674" "0" "c.4674G>A" "r.(?)" "p.(Ala1558=)" "" "0000884968" "00005465" "50" "4417" "0" "4417" "0" "c.4417C>A" "r.(?)" "p.(Gln1473Lys)" "" "0000884969" "00005465" "30" "4185" "0" "4185" "0" "c.4185G>A" "r.(?)" "p.(Gly1395=)" "" "0000884970" "00005465" "30" "4152" "0" "4152" "0" "c.4152G>A" "r.(?)" "p.(Ala1384=)" "" "0000884971" "00005465" "10" "3871" "0" "3871" "0" "c.3871C>G" "r.(?)" "p.(Pro1291Ala)" "" "0000884972" "00005465" "50" "3707" "0" "3707" "0" "c.3707G>A" "r.(?)" "p.(Gly1236Glu)" "" "0000884973" "00005465" "30" "2796" "0" "2796" "0" "c.2796G>A" "r.(?)" "p.(Lys932=)" "" "0000884974" "00005465" "30" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Ala931Thr)" "" "0000884975" "00005465" "30" "2629" "0" "2629" "0" "c.2629C>T" "r.(?)" "p.(Arg877Trp)" "" "0000884976" "00005465" "30" "2383" "7" "2383" "7" "c.2383+7G>A" "r.(=)" "p.(=)" "" "0000884977" "00005465" "90" "2056" "1" "2056" "1" "c.2056+1G>A" "r.spl?" "p.?" "" "0000884978" "00005465" "70" "2038" "0" "2038" "0" "c.2038G>A" "r.(?)" "p.(Gly680Ser)" "" "0000884979" "00005465" "90" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Gly478Glu)" "" "0000884980" "00005465" "50" "1100" "-20" "1100" "-20" "c.1100-20T>G" "r.(=)" "p.(=)" "" "0000884981" "00005465" "90" "551" "0" "551" "0" "c.551del" "r.(?)" "p.(Gly184Valfs*35)" "" "0000884982" "00005465" "30" "507" "0" "507" "0" "c.507G>C" "r.(?)" "p.(Lys169Asn)" "" "0000884983" "00005465" "30" "50" "0" "50" "0" "c.50A>G" "r.(?)" "p.(Lys17Arg)" "" "0000884984" "00005465" "30" "-892" "0" "-892" "0" "c.-892G>C" "r.(?)" "p.(=)" "" "0000884985" "00005465" "30" "-894" "0" "-894" "0" "c.-894G>A" "r.(?)" "p.(=)" "" "0000911607" "00005465" "90" "4754" "0" "4754" "0" "c.4754dup" "r.(?)" "p.(Cys1588Metfs*46)" "" "0000911608" "00005465" "50" "4082" "0" "4082" "0" "c.4082G>A" "r.(?)" "p.(Gly1361Asp)" "" "0000911609" "00005465" "90" "3933" "0" "3933" "0" "c.3933C>G" "r.(?)" "p.(Tyr1311*)" "" "0000911610" "00005465" "70" "3514" "0" "3514" "0" "c.3514G>A" "r.(?)" "p.(Gly1172Arg)" "" "0000911611" "00005465" "10" "3232" "0" "3232" "0" "c.3232G>A" "r.(?)" "p.(Ala1078Thr)" "" "0000911612" "00005465" "30" "2877" "0" "2877" "0" "c.2877C>T" "r.(?)" "p.(Pro959=)" "" "0000911613" "00005465" "30" "2717" "-15" "2717" "-15" "c.2717-15C>A" "r.(=)" "p.(=)" "" "0000911614" "00005465" "50" "1460" "0" "1460" "0" "c.1460G>C" "r.(?)" "p.(Gly487Ala)" "" "0000911615" "00005465" "30" "1271" "0" "1271" "0" "c.1271T>C" "r.(?)" "p.(Ile424Thr)" "" "0000911617" "00005465" "30" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Gln)" "" "0000920149" "00005465" "50" "3151" "-3" "3151" "-3" "c.3151-3C>G" "r.spl?" "p.?" "" "0000920748" "00005465" "10" "490" "-121" "490" "-121" "c.490-121T>G" "r.(?)" "p.?" "" "0000920749" "00005465" "10" "595" "-111" "595" "-111" "c.595-111T>C" "r.(?)" "p.?" "" "0000920750" "00005465" "10" "657" "48" "657" "48" "c.657+48A>G" "r.(?)" "p.?" "" "0000920751" "00005465" "10" "657" "62" "657" "62" "c.657+62G>A" "r.(?)" "p.?" "" "0000920752" "00005465" "10" "657" "67" "657" "67" "c.657+67A>G" "r.(?)" "p.?" "" "0000920753" "00005465" "10" "658" "-39" "658" "-39" "c.658-39T>C" "r.(?)" "p.?" "" "0000920754" "00005465" "10" "871" "-60" "871" "-37" "c.871-60_871-37del" "r.(?)" "p.?" "" "0000920755" "00005465" "10" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Pro482Ser)" "" "0000920756" "00005465" "10" "2545" "46" "2545" "46" "c.2545+46A>T" "r.(?)" "p.?" "" "0000920757" "00005465" "10" "2545" "51" "2545" "51" "c.2545+51A>G" "r.(?)" "p.?" "" "0000920758" "00005465" "10" "2545" "140" "2545" "140" "c.2545+140T>C" "r.(?)" "p.?" "" "0000920759" "00005465" "10" "2861" "-142" "2861" "-142" "c.2861-142A>G" "r.(?)" "p.?" "" "0000920760" "00005465" "10" "2861" "-112" "2861" "-112" "c.2861-112G>C" "r.(?)" "p.?" "" "0000920761" "00005465" "10" "3011" "0" "3011" "0" "c.3011C>T" "r.(?)" "p.(Pro1004Leu)" "" "0000920762" "00005465" "10" "3151" "-22" "3151" "-22" "c.3151-22T>C" "r.(?)" "p.?" "" "0000920763" "00005465" "10" "3214" "129" "3214" "129" "c.3214+129G>C" "r.(?)" "p.?" "" "0000920764" "00005465" "10" "3214" "159" "3214" "159" "c.3214+159A>G" "r.(?)" "p.?" "" "0000920765" "00005465" "10" "3215" "-66" "3215" "-66" "c.3215-66C>T" "r.(?)" "p.?" "" "0000920766" "00005465" "10" "3594" "0" "3594" "0" "c.3594G>A" "r.(?)" "p.(Gly1198=)" "" "0000920767" "00005465" "10" "3684" "0" "3684" "0" "c.3684G>A" "r.(?)" "p.(Lys1228=)" "" "0000920768" "00005465" "10" "3817" "9" "3817" "9" "c.3817+9G>C" "r.(?)" "p.?" "" "0000920769" "00005465" "10" "3973" "34" "3973" "34" "c.3973+34T>C" "r.(?)" "p.?" "" "0000920770" "00005465" "10" "4080" "0" "4080" "0" "c.4080G>A" "r.(?)" "p.(Pro1360=)" "" "0000920771" "00005465" "10" "4091" "-36" "4091" "-36" "c.4091-36G>A" "r.(?)" "p.?" "" "0000920772" "00005465" "10" "4217" "-24" "4217" "-24" "c.4217-24C>T" "r.(?)" "p.?" "" "0000920773" "00005465" "10" "4522" "72" "4522" "72" "c.4522+72G>A" "r.(?)" "p.?" "" "0000920774" "00005465" "10" "4523" "-8" "4523" "-8" "c.4523-8T>C" "r.(?)" "p.?" "" "0000920775" "00005465" "10" "4548" "0" "4548" "0" "c.4548A>G" "r.(?)" "p.(Val1516=)" "" "0000920776" "00005465" "10" "4932" "0" "4932" "0" "c.4932C>T" "r.(?)" "p.(Phe1644=)" "" "0000920778" "00005465" "90" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Asp)" "" "0000920779" "00005465" "90" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Asp)" "" "0000920780" "00005465" "90" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Asp)" "" "0000920781" "00005465" "90" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Asp)" "" "0000920782" "00005465" "90" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Asp)" "" "0000923635" "00005465" "30" "4975" "0" "4975" "0" "c.4975T>C" "r.(?)" "p.(Leu1659=)" "" "0000923636" "00005465" "30" "4334" "-7" "4334" "-7" "c.4334-7C>T" "r.(=)" "p.(=)" "" "0000923637" "00005465" "30" "3531" "0" "3531" "0" "c.3531C>T" "r.(?)" "p.(Asn1177=)" "" "0000923638" "00005465" "30" "2546" "-6" "2546" "-6" "c.2546-6T>C" "r.(=)" "p.(=)" "" "0000923639" "00005465" "30" "303" "0" "303" "0" "c.303A>T" "r.(?)" "p.(Gly101=)" "" "0000927636" "00005465" "90" "4288" "0" "4288" "0" "c.4288G>A" "r.(?)" "p.(Gly1430Arg)" "" "0000928542" "00005465" "30" "4216" "11" "4216" "11" "c.4216+11C>T" "r.(=)" "p.(=)" "" "0000928543" "00005465" "90" "3289" "1" "3289" "1" "c.3289+1G>T" "r.spl?" "p.?" "" "0000928544" "00005465" "50" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Pro389Ser)" "" "0000928545" "00005465" "70" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Gly370Arg)" "" "0000928546" "00005465" "90" "914" "0" "930" "29" "c.914_930+29del" "r.(?)" "p.(Ile295Metfs*15)" "" "0000947772" "00005465" "90" "4787" "0" "4787" "0" "c.4787G>A" "r.(?)" "p.(Trp1596Ter)" "" "0000947773" "00005465" "90" "4097" "0" "4097" "0" "c.4097dup" "r.(?)" "p.(Pro1368AlafsTer7)" "" "0000947774" "00005465" "90" "2842" "0" "2842" "0" "c.2842G>T" "r.(?)" "p.(Gly948*)" "" "0000947775" "00005465" "90" "2752" "0" "2752" "0" "c.2752G>A" "r.(?)" "p.(Gly918Arg)" "" "0000947776" "00005465" "90" "2385" "0" "2385" "0" "c.2385del" "r.(?)" "p.(Pro796GlnfsTer8)" "" "0000947778" "00005465" "70" "727" "0" "727" "0" "c.727G>C" "r.(?)" "p.(Gly243Arg)" "" "0000947779" "00005465" "30" "102" "0" "102" "0" "c.102A>G" "r.(?)" "p.(Gln34=)" "" "0000960171" "00005465" "70" "1323" "0" "1340" "0" "c.1323_1340del" "r.(?)" "p.(Pro444_Leu449del)" "" "0000961932" "00005465" "50" "4922" "0" "4922" "0" "c.4922G>A" "r.(?)" "p.(Cys1641Tyr)" "" "0000961933" "00005465" "50" "4712" "0" "4712" "0" "c.4712C>A" "r.(?)" "p.(Ala1571Asp)" "" "0000961934" "00005465" "70" "4090" "2" "4090" "2" "c.4090+2T>G" "r.spl?" "p.?" "" "0000961937" "00005465" "70" "3271" "0" "3271" "0" "c.3271G>C" "r.(?)" "p.(Gly1091Arg)" "" "0000961938" "00005465" "50" "2668" "0" "2668" "0" "c.2668C>T" "r.(?)" "p.(Pro890Ser)" "" "0000961939" "00005465" "70" "2447" "0" "2447" "0" "c.2447G>A" "r.(?)" "p.(Gly816Glu)" "" "0000961940" "00005465" "90" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Gly722Ser)" "" "0000961941" "00005465" "30" "1776" "0" "1776" "0" "c.1776T>C" "r.(?)" "p.(=)" "" "0000961942" "00005465" "70" "1327" "0" "1344" "0" "c.1327_1344del" "r.(?)" "p.(Pro444_Leu449del)" "" "0000961943" "00005465" "90" "1323" "0" "1340" "0" "c.1323_1340del" "r.(?)" "p.(Pro444_Leu449del)" "" "0000961944" "00005465" "30" "1205" "-9" "1205" "-9" "c.1205-9A>G" "r.(=)" "p.(=)" "" "0000961945" "00005465" "30" "1202" "0" "1202" "0" "c.1202C>T" "r.(?)" "p.(Ala401Val)" "" "0000961947" "00005465" "90" "516" "0" "516" "0" "c.516dup" "r.(?)" "p.(Gly173Argfs*11)" "" "0000961948" "00005465" "30" "198" "0" "198" "0" "c.198A>G" "r.(?)" "p.(Pro66=)" "" "0000975035" "00005465" "50" "4982" "0" "4982" "0" "c.4982T>A" "r.(?)" "p.(Phe1661Tyr)" "" "0000975036" "00005465" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Pro1572Leu)" "" "0000975037" "00005465" "70" "4522" "0" "4522" "0" "c.4522G>A" "r.(?)" "p.(Gly1508Ser)" "" "0000975038" "00005465" "70" "4091" "-8" "4092" "0" "c.4091-8_4092del" "r.(?)" "p.(Gly1364Ala)" "" "0000975039" "00005465" "30" "3974" "-4" "3974" "-4" "c.3974-4dup" "r.spl?" "p.?" "" "0000975040" "00005465" "70" "3973" "0" "3973" "0" "c.3973G>C" "r.(?)" "p.(Gly1325Arg)" "" "0000975041" "00005465" "50" "3581" "0" "3581" "0" "c.3581T>C" "r.(?)" "p.(Leu1194Ser)" "" "0000975042" "00005465" "50" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Pro1029Ser)" "" "0000975043" "00005465" "10" "2439" "0" "2439" "0" "c.2439A>T" "r.(?)" "p.(Gly813=)" "" "0000975044" "00005465" "50" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Pro721Ser)" "" "0000975045" "00005465" "30" "2008" "0" "2008" "0" "c.2008G>A" "r.(?)" "p.(Val670Ile)" "" "0000975046" "00005465" "90" "1862" "0" "1862" "0" "c.1862del" "r.(?)" "p.(Pro621Glnfs*32)" "" "0000975047" "00005465" "70" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Gly199Glu)" "" "0000975048" "00005465" "70" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Gly167Glu)" "" "0000975049" "00005465" "50" "337" "0" "337" "0" "c.337G>C" "r.(?)" "p.(Gly113Arg)" "" "0000975050" "00005465" "30" "71" "10" "71" "10" "c.71+10C>T" "r.(=)" "p.(=)" "" "0000975051" "00005465" "90" "71" "1" "71" "1" "c.71+1del" "r.spl?" "p.?" "" "0000975052" "00005465" "30" "-865" "0" "-854" "0" "c.-865_-854del" "r.(?)" "p.(=)" "" "0000992577" "00005465" "50" "5071" "0" "5071" "0" "c.5071T>C" "r.(?)" "p.(*1691Glnext*24)" "" "0000992578" "00005465" "30" "4760" "0" "4760" "0" "c.4760C>G" "r.(?)" "p.(Pro1587Arg)" "" "0000992579" "00005465" "50" "4730" "0" "4730" "0" "c.4730C>T" "r.(?)" "p.(Ala1577Val)" "" "0000992580" "00005465" "50" "4556" "0" "4556" "0" "c.4556C>G" "r.(?)" "p.(Thr1519Arg)" "" "0000992581" "00005465" "50" "4394" "0" "4394" "0" "c.4394G>A" "r.(?)" "p.(Gly1465Asp)" "" "0000992582" "00005465" "30" "4390" "0" "4390" "0" "c.4390G>A" "r.(?)" "p.(Gly1464Ser)" "" "0000992583" "00005465" "30" "3754" "0" "3754" "0" "c.3754A>G" "r.(?)" "p.(Lys1252Glu)" "" "0000992584" "00005465" "50" "3700" "0" "3700" "0" "c.3700C>A" "r.(?)" "p.(Pro1234Thr)" "" "0000992585" "00005465" "50" "3089" "0" "3089" "0" "c.3089G>C" "r.(?)" "p.(Gly1030Ala)" "" "0000992586" "00005465" "50" "3028" "0" "3028" "0" "c.3028C>T" "r.(?)" "p.(Pro1010Ser)" "" "0000992587" "00005465" "30" "2630" "0" "2630" "0" "c.2630G>A" "r.(?)" "p.(Arg877Gln)" "" "0000992588" "00005465" "50" "2320" "0" "2320" "0" "c.2320G>C" "r.(?)" "p.(Gly774Arg)" "" "0000992589" "00005465" "70" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Gly722Ser)" "" "0000992590" "00005465" "50" "1813" "0" "1813" "0" "c.1813G>A" "r.(?)" "p.(Glu605Lys)" "" "0000992591" "00005465" "70" "1669" "0" "1669" "0" "c.1669G>T" "r.(?)" "p.(Gly557Cys)" "" "0000992592" "00005465" "90" "1505" "0" "1505" "0" "c.1505dup" "r.(?)" "p.(Gly503TrpfsTer12)" "" "0000992593" "00005465" "30" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Ala493Val)" "" "0000992594" "00005465" "50" "1294" "0" "1294" "0" "c.1294C>T" "r.(?)" "p.(Pro432Ser)" "" "0000992595" "00005465" "30" "1271" "0" "1271" "0" "c.1271T>C" "r.(?)" "p.(Ile424Thr)" "" "0000992596" "00005465" "30" "1217" "0" "1217" "0" "c.1217C>T" "r.(?)" "p.(Pro406Leu)" "" "0000992597" "00005465" "50" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Trp)" "" "0000992598" "00005465" "50" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Tyr268Cys)" "" "0000992599" "00005465" "30" "680" "0" "680" "0" "c.680G>C" "r.(?)" "p.(Arg227Pro)" "" "0000992600" "00005465" "70" "481" "0" "481" "0" "c.481G>C" "r.(?)" "p.(Gly161Arg)" "" "0000992601" "00005465" "50" "218" "0" "233" "0" "c.218_233del" "r.(?)" "p.(Gln73Profs*16)" "" "0000992602" "00005465" "30" "72" "-3" "72" "-3" "c.72-3T>C" "r.spl?" "p.?" "" "0001013675" "00005465" "70" "3506" "-13" "3528" "0" "c.3506-13_3528del" "r.(?)" "p.(Gly1169_Pro1174delinsValPheLeuTrpValThr)" "" "0001013676" "00005465" "50" "2840" "0" "2840" "0" "c.2840G>A" "r.(?)" "p.(Arg947Gln)" "" "0001013677" "00005465" "70" "2573" "0" "2573" "0" "c.2573G>A" "r.(?)" "p.(Gly858Glu)" "" "0001013678" "00005465" "70" "1960" "0" "1960" "0" "c.1960G>C" "r.(?)" "p.(Gly654Arg)" "" "0001013679" "00005465" "70" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Gly515Glu)" "" "0001013680" "00005465" "70" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Gly167Glu)" "" "0001013681" "00005465" "70" "490" "-1" "490" "-1" "c.490-1G>C" "r.spl?" "p.?" "" "0001013682" "00005465" "30" "72" "-18" "72" "-18" "c.72-18G>A" "r.(=)" "p.(=)" "" "0001024543" "00005465" "70" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Pro1572Leu)" "" "0001024544" "00005465" "70" "4708" "0" "4708" "0" "c.4708G>A" "r.(?)" "p.(Glu1570Lys)" "" "0001024545" "00005465" "70" "3506" "-1" "3506" "-1" "c.3506-1G>A" "r.spl?" "p.?" "" "0001024546" "00005465" "70" "3263" "0" "3263" "0" "c.3263G>A" "r.(?)" "p.(Gly1088Asp)" "" "0001024547" "00005465" "30" "2164" "15" "2164" "16" "c.2164+15_2164+16insGTTTT" "r.(=)" "p.(=)" "" "0001024548" "00005465" "70" "2092" "0" "2092" "0" "c.2092G>A" "r.(?)" "p.(Gly698Arg)" "" "0001024549" "00005465" "90" "1862" "0" "1862" "0" "c.1862del" "r.(?)" "p.(Pro621Glnfs*32)" "" "0001024550" "00005465" "70" "817" "0" "817" "0" "c.817G>T" "r.(?)" "p.(Gly273Cys)" "" "0001024551" "00005465" "30" "-866" "0" "-866" "0" "c.-866C>T" "r.(?)" "p.(=)" "" "0001033050" "00005465" "70" "4858" "0" "4858" "0" "c.4858G>A" "r.(?)" "p.(Gly1620Ser)" "" "0001033051" "00005465" "50" "4742" "0" "4742" "0" "c.4742A>G" "r.(?)" "p.(Gln1581Arg)" "" "0001033052" "00005465" "50" "4082" "0" "4082" "0" "c.4082G>A" "r.(?)" "p.(Gly1361Asp)" "" "0001033053" "00005465" "50" "3914" "0" "3914" "0" "c.3914C>T" "r.(?)" "p.(Pro1305Leu)" "" "0001033054" "00005465" "90" "3584" "0" "3584" "0" "c.3584dup" "r.(?)" "p.(His1195Glnfs*2)" "" "0001033055" "00005465" "30" "3581" "0" "3581" "0" "c.3581T>C" "r.(?)" "p.(Leu1194Ser)" "" "0001033056" "00005465" "90" "3578" "-1" "3578" "-1" "c.3578-1G>T" "r.spl?" "p.?" "" "0001033057" "00005465" "90" "3427" "0" "3427" "0" "c.3427C>T" "r.(?)" "p.(Gln1143*)" "" "0001033058" "00005465" "70" "3307" "0" "3307" "0" "c.3307G>A" "r.(?)" "p.(Gly1103Arg)" "" "0001033059" "00005465" "90" "2242" "0" "2242" "0" "c.2242G>A" "r.(?)" "p.(Gly748Ser)" "" "0001033060" "00005465" "50" "1394" "0" "1394" "0" "c.1394C>T" "r.(?)" "p.(Pro465Leu)" "" "0001033061" "00005465" "90" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Gln250*)" "" "0001033062" "00005465" "50" "-838" "0" "-838" "0" "c.-838G>T" "r.(?)" "p.(=)" "" "0001045503" "00005465" "90" "801" "0" "802" "0" "c.801_802del" "r.(?)" "p.(Tyr268Ter)" "" "0001045813" "00005465" "30" "3989" "0" "3989" "0" "c.3989C>T" "r.(?)" "p.(Pro1330Leu)" "" "0001045814" "00005465" "70" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Gly353Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 794 "{{screeningid}}" "{{variantid}}" "0000091970" "0000150200" "0000091971" "0000150201" "0000091972" "0000150202" "0000091973" "0000150203" "0000091974" "0000150204" "0000091975" "0000150205" "0000091975" "0000150576" "0000091976" "0000150206" "0000091977" "0000150207" "0000091978" "0000150208" "0000091979" "0000150209" "0000091980" "0000150210" "0000091981" "0000150211" "0000091982" "0000150212" "0000091983" "0000150213" "0000091984" "0000150214" "0000091985" "0000150215" "0000091986" "0000150216" "0000091987" "0000150217" "0000091988" "0000150218" "0000091989" "0000150219" "0000091989" "0000150577" "0000091990" "0000150220" "0000091990" "0000150578" "0000091990" "0000150579" "0000091990" "0000150580" "0000091990" "0000150581" "0000091990" "0000150582" "0000091990" "0000150583" "0000091990" "0000150584" "0000091990" "0000150585" "0000091990" "0000150586" "0000091990" "0000150587" 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