### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GJB1) # 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}}" "GJB1" "gap junction protein, beta 1, 32kDa" "X" "q13.1" "unknown" "NG_008357.1" "UD_132118469797" "" "https://www.LOVD.nl/GJB1" "" "1" "4283" "2705" "304040" "1" "1" "1" "1" "This database is one of the gene variant databases from the:\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "http://databases.lovd.nl/shared/refseq/GJB1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2018-11-11 19:27:44" "00000" "2025-05-05 21:14:00" ## 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}}" "00008536" "GJB1" "transcript variant 2" "002" "NM_000166.5" "" "NP_000157.1" "" "" "" "-146" "1508" "852" "70443056" "70445065" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "02219" "CMTX1" "Charcot-Marie-Tooth disease, X-linked dominant, type 1 (CMTX1)" "XLD" "302800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-26 14:25:49" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05383" "HSAN" "neuropathy, sensory and autonomic, hereditary (HSAN)" "" "" "" "" "" "00006" "2018-01-27 17:13:02" "" "" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GJB1" "02219" ## Individuals ## Do not remove or alter this header ## ## Count = 395 "{{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}}" "00035453" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035454" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035455" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035456" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035457" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035458" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035459" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035460" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035461" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" 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"" "" "" "1" "" "00006" "{PMID:Latour 1997:9018031}" "" "" "" "" "" "0" "" "" "" "" "00205547" "" "" "" "1" "" "00006" "{PMID:Mersiyanova 2000:10737979}" "" "" "" "" "" "0" "" "" "" "" "00205548" "" "" "" "1" "" "00006" "{PMID:Tan 1996:8829637}" "" "" "" "" "" "0" "" "" "" "" "00205549" "" "" "" "1" "" "00006" "{PMID:Bone 1997:9361298}" "" "" "" "" "" "0" "" "" "" "" "00205550" "" "" "" "1" "" "00006" "{PMID:Mandich 2008:18379723}" "" "" "" "" "" "0" "" "" "" "" "00205551" "" "" "" "1" "" "00006" "{PMID:Ikegami 1998:9856562}" "" "" "" "" "" "0" "" "" "" "" "00205552" "" "" "" "1" "" "00006" "{PMID:Karadima 2006:16096811}" "" "" "" "" "" "0" "" "" "" "" "00205553" "" "" "" "1" "" "00006" "{PMID:Lin 2010:21104867}" "" "" "" "" "" "0" "" "" "" "" "00205554" "" "" "" "1" "" "00006" "{PMID:Orth 1994:7833935}" "" "" "" "" "" "0" "" "" "" "" "00205555" "" "" "" "1" "" "00006" "{PMID:Karadima 2004:14991359}" "" "" "" "" "" "0" "" "" "" "" "00205556" "" "" "" "1" "" "00006" "{PMID:Ekici 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"" "" "" "00205567" "" "" "" "1" "" "00006" "{PMID:Bone 1997:9361298}" "" "" "" "" "" "0" "" "" "" "" "00205568" "" "" "" "1" "" "00006" "{PMID:Felice 2000:10894999}" "" "" "" "" "" "0" "" "" "" "" "00205569" "" "" "" "1" "" "00006" "{PMID:Park 2006:16922730}" "" "" "" "" "" "0" "" "" "" "" "00205570" "" "" "" "1" "" "00006" "{PMID:Casasnovas 2006:17100997}" "" "" "" "" "" "0" "" "" "" "" "00205571" "" "" "" "1" "" "00006" "{PMID:Street 2002:12207932}" "" "" "" "" "" "0" "" "" "" "" "00205572" "" "" "" "1" "" "00006" "{PMID:Timmerman 1996:8628473}" "" "" "" "" "" "0" "" "" "" "" "00205573" "" "" "" "1" "" "00006" "{PMID:Latour 1997:10732813}" "" "" "" "" "" "0" "" "" "" "" "00205574" "" "" "" "1" "" "00006" "{PMID:Miltenberger-Miltenyi 2009:19259128}" "" "" "" "" "" "0" "" "" "" "" "00205575" "" "" "" "1" "" "00006" "{PMID:Casasnovas 2006:17100997}" "" "" "" "" "" "0" "" "" "" "" "00205576" "" "" "" "1" "" "00006" "{PMID:Yoshimura 1996:8889588}" "" "" "" "" "" "0" "" "" "" "" 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"" "" "1" "" "00006" "{PMID:Ionasescu 1996:8737658}" "" "" "" "" "" "0" "" "" "" "" "00205609" "" "" "" "1" "" "00006" "{PMID:Bone 1997:9361298}" "" "" "" "" "" "0" "" "" "" "" "00205610" "" "" "" "1" "" "00006" "{PMID:Ionasescu 1995:7580242}" "" "" "" "" "" "0" "" "" "" "" "00205611" "" "" "" "1" "" "00006" "{PMID:Di Iorio 2000:10938190}" "" "" "" "" "" "0" "" "" "" "" "00205612" "" "" "" "1" "" "00006" "{PMID:Nelis 1999:9888385}" "" "" "" "" "" "0" "" "" "" "" "00205613" "" "" "" "1" "" "00006" "{PMID:Abe 2011:21326314}" "" "" "" "" "" "0" "" "" "" "" "00205614" "" "" "" "1" "" "00006" "{PMID:Nelis 1999:9888385}" "" "" "" "" "" "0" "" "" "" "" "00205615" "" "" "" "1" "" "00006" "{PMID:Rouger 1997:9401007}" "" "" "" "" "" "0" "" "" "" "" "00205616" "" "" "" "1" "" "00006" "{PMID:Janssen 1997:9099841}" "" "" "" "" "" "0" "" "" "" "" "00205617" "" "" "" "1" "" "00006" "{PMID:Bone 1997:9361298}" "" "" "" "" "" "0" "" "" "" "" "00205618" "" "" "" "1" "" "00006" "{PMID:Sorour 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"{PMID:Yoshimura 1996:8889588}" "" "" "" "" "" "0" "" "" "" "" "00205823" "" "" "" "1" "" "00006" "{PMID:Numakura 2002:12402337}" "" "" "" "" "" "0" "" "" "" "" "00205824" "" "" "" "1" "" "00006" "{PMID:Mandich 2008:18379723}" "" "" "" "" "" "0" "" "" "" "" "00205825" "" "" "" "1" "" "00006" "{PMID:Ionasescu 1996:8737658}" "" "" "" "" "" "0" "" "" "" "" "00205826" "" "" "" "1" "" "00006" "{PMID:Luigetti 2011:21922480}" "" "" "" "" "" "0" "" "" "" "" "00205827" "" "" "" "1" "" "00006" "{PMID:Absoud 2011:21309765}" "" "" "" "" "" "0" "" "" "" "" "00205828" "" "" "" "1" "" "00006" "{PMID:Miltenberger-Miltenyi 2009:19259128}" "" "" "" "" "" "0" "" "" "" "" "00205829" "" "" "" "1" "" "00006" "{PMID:Castro 1999:10234007}" "" "" "" "" "" "0" "" "" "" "" "00205830" "" "" "" "1" "" "00006" "{PMID:Bone 1997:9361298}" "" "" "" "" "" "0" "" "" "" "" "00205831" "" "" "" "1" "" "00006" "{PMID:Bone 1997:9361298}" "" "" "" "" "" "0" "" "" "" "" "00205832" "" "" "" "1" "" "00006" "{PMID:Latour 1997:10732813}" "" "" "" "" "" "0" "" "" "" "" "00205833" "" "" "" "1" "" "00006" "{PMID:Nelis 1997:8990008}" "" "" "" "" "" "0" "" "" "" "" "00205834" "" "" "" "1" "" "00006" "{PMID:Mandich 2008:18379723}" "" "" "" "" "" "0" "" "" "" "" "00205835" "" "" "" "1" "" "00006" "{PMID:Nelis 1999:9888385}" "" "" "" "" "" "0" "" "" "" "" "00205836" "" "" "" "1" "" "00006" "{PMID:Bone 1995:7477983}" "" "" "" "" "" "0" "" "" "" "" "00205837" "" "" "" "1" "" "00006" "{PMID:Nicholson 1998:9818870}" "" "" "" "" "" "0" "" "" "" "" "00205838" "" "" "" "1" "" "00006" "{PMID:Ionasescu 1996:8737658}" "" "" "" "" "" "0" "" "" "" "" "00205839" "" "" "" "1" "" "00006" "{PMID:Keckarevic-Markovic 2009:19691535}" "" "" "" "" "" "0" "" "" "" "" "00205840" "" "" "" "8" "" "01715" "" "family, 8 affected" "M" "no" "Iran" "" "0" "" "" "" "" "00208602" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "112042" "00218414" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00219084" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat94" "00219085" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat95" "00219086" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat96" "00219087" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat97" "00219088" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat98" "00219089" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat99" "00219090" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat100" "00219091" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat101" "00219092" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat102" "00219093" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat103" "00229597" "" "" "" "1" "" "03239" "" "" "F" "" "Croatia (Hrvatska)" "" "0" "" "" "" "03239" "00229599" "" "" "" "2" "" "03239" "Merkler, ESHG2015, AbsPM10.14" "2-generation family, 2 affected" "M" "" "Croatia (Hrvatska)" "" "0" "" "" "" "patient1" "00229600" "" "" "00229599" "1" "" "03239" "Merkler, ESHG2015, AbsPM10.14" "patient2" "F" "" "Croatia (Hrvatska)" "" "0" "" "" "" "patient2" "00263918" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263919" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263920" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263921" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263922" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263923" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263924" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263925" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263926" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263927" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263928" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263929" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263930" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263931" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00276052" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00276350" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00285115" "" "" "" "1" "" "00004" "{PMID:McLaughlin 2010:20920668}" "3-generation family, 3 affected (F, 2M)" "F;M" "" "" "" "0" "" "" "" "BABS663" "00295091" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295092" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299995" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00299996" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00299997" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00299998" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300021" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1" "00300056" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300057" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300058" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300059" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-GJB1-a" "00300060" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300107" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-GJB1-b" "00320260" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "172496" "00320261" "" "" "" "1" "" "03239" "Merkler, ESHG2015, AbsPM10.14" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam" "00320262" "" "" "" "1" "" "03239" "Merkler, ESHG2015, AbsPM10.14" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam" "00320263" "" "" "" "1" "" "03239" "Merkler, ESHG2015, AbsPM10.14" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam" "00320264" "" "" "" "1" "" "03239" "Merkler, ESHG2015, AbsPM10.14" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam" "00320265" "" "" "" "1" "" "03239" "Merkler, ESHG2015, AbsPM10.14" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam" "00320266" "" "" "" "1" "" "03239" "Merkler, ESHG2015, AbsPM10.14" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam" "00320267" "" "" "" "1" "" "03239" "Merkler, ESHG2015, AbsPM10.14" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam" "00320268" "" "" "" "1" "" "03239" "Merkler, ESHG2015, AbsPM10.14" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "Fam" "00374327" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3380" "00386511" "" "" "" "1" "" "00006" "{PMID:Nair 2018:30293248}" "patient" "" "" "Lebanon" "" "0" "" "" "" "" "00398511" "" "" "" "15" "" "04209" "{PMID:Liu 2020:31943912}" "5-generation family, 15 affected males, 1 symptomatic carrier female" "M" "no" "China" "" "0" "" "" "China" "FamPatIII24" "00398575" "" "" "00398511" "1" "" "04209" "{PMID:Liu 2020:31943912}" "PatIII27" "M" "no" "China" "" "0" "" "" "China" "FamPatIII27" "00398593" "" "" "00398511" "1" "" "04209" "{PMID:Liu 2020:31943912}" "PatIV27" "M" "yes" "China" "" "0" "" "" "China" "FamPatIV27" "00398594" "" "" "00398511" "1" "" "04209" "{PMID:Liu 2020:31943912}" "PatIV34" "M" "yes" "China" "" "0" "" "" "China" "FamPatIV34" "00398595" "" "" "00398511" "1" "" "04209" "{PMID:Liu 2020:31943912}" "PatV2" "M" "no" "China" "" "0" "" "" "China" "FamPatV2" "00398979" "" "" "" "5" "" "04217" "{PMID:Lui 2017:27804109}" "3-generation family, 5 affected (2F, 3M)" "M" "?" "China" ">32y" "0" "" "" "" "Fam1PatIII2" "00399473" "" "" "00398979" "1" "" "04217" "{PMID:Lui 2017:27804109}" "mother" "F" "?" "China" ">57y" "" "" "" "" "Fam1PatII3" "00399474" "" "" "00398979" "1" "" "04217" "{PMID:Lui 2017:27804109}" "uncle" "M" "" "China" ">60y" "" "" "" "" "Fam1PatII1" "00399475" "" "" "00398979" "1" "" "04217" "{PMID:Lui 2017:27804109}" "uncle" "M" "" "China" ">55y" "0" "" "" "" "Fam1PatII5" "00399476" "" "" "" "2" "" "04217" "{PMID:Lui 2017:27804109}" "3-generation family, 3 affected (1F, 2M)" "M" "" "China" ">11y" "" "" "" "" "Fam2PatIII3" "00399477" "" "" "00399476" "1" "" "04217" "{PMID:Lui 2017:27804109}" "mother" "F" "?" "China" ">41y" "" "" "" "" "Fam2PatII5" "00399563" "" "" "" "2" "" "04217" "{PMID:Lui 2017:27804109}" "2-generation family, 2 affected (2M) , unaffected heterozygous carrier parents" "M" "?" "China" ">20y" "" "" "" "" "Fam9PatII3" "00399564" "" "" "00399563" "1" "" "04217" "{PMID:Lui 2017:27804109}" "brother" "M" "?" "China" ">29y" "" "" "" "" "Fam9PatII1" "00399565" "" "" "" "4" "" "04217" "{PMID:Lui 2017:27804109}" "3-generation family, 4 affected (1F, 3M)" "M" "?" "China" ">37y" "" "" "" "" "Fam11PatIII6" "00399566" "" "" "00399565" "1" "" "04217" "{PMID:Lui 2017:27804109}" "mother" "F" "" "China" ">65y" "" "" "" "" "Fam11PatII3" "00399569" "" "" "" "3" "" "04217" "{PMID:Lui 2017:27804109}" "3-generation family, 3 affected (2F, 1M)" "M" "?" "China" ">46y" "0" "" "" "" "Fam13PatIII3" "00399570" "" "" "" "4" "" "04217" "{PMID:Lui 2017:27804109}" "3-generation family, 4 affected (1F, 3M)" "M" "" "China" ">39y" "" "" "" "" "Fam15PatIII2" "00399571" "" "" "00399570" "1" "" "04217" "{PMID:Lui 2017:27804109}" "mother" "F" "?" "China" ">72y" "" "" "" "" "Fam15PatII3" "00407631" "" "" "" "1" "" "00636" "" "" "M" "" "Italy" ">50y" "" "" "" "" "" "00414356" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP23" "00455798" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat38" "00464284" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "319336" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 376 "{{individualid}}" "{{diseaseid}}" "00035457" "00198" "00035462" "00198" "00035471" "00198" "00205546" "05113" "00205547" "05113" "00205548" "05113" "00205549" "05113" "00205550" "05113" "00205551" "05113" "00205552" "05113" "00205553" "05113" "00205554" "05113" "00205555" "05113" "00205556" "05113" "00205557" "05113" "00205558" "05113" "00205559" "05113" "00205560" "05113" "00205561" "05113" "00205562" "05113" "00205563" "05113" "00205564" "05113" "00205565" "05113" "00205566" "05113" "00205567" "05113" "00205568" "05113" "00205569" "05113" "00205570" "05113" "00205571" "05113" "00205572" "05113" "00205573" "05113" "00205574" "05113" "00205575" "05113" "00205576" "05113" "00205577" "00198" "00205578" "05113" "00205579" "05113" "00205580" "05113" "00205581" "05113" "00205582" "05113" "00205583" "05113" "00205584" "05113" "00205585" "05113" "00205586" "05113" "00205587" "05113" "00205588" "05113" "00205589" "05113" "00205590" "05113" "00205591" "05113" "00205592" "05113" "00205593" "05113" "00205594" "05113" "00205595" "05113" "00205596" "05113" "00205597" "05113" "00205598" "05113" "00205599" "05113" "00205600" "05113" "00205601" "05113" "00205602" "05113" "00205603" "05113" "00205604" "05113" "00205605" "05113" "00205606" "05113" "00205607" "05113" "00205608" "05113" "00205609" "05113" "00205610" "05113" "00205611" "05113" "00205612" "05113" "00205613" "05113" "00205614" "05113" "00205615" "05113" "00205616" "05113" "00205617" "05113" "00205618" "05113" "00205619" "05113" "00205620" "05113" "00205621" "05113" "00205622" "05113" "00205623" "05113" "00205624" "05113" "00205625" "05113" "00205626" "05113" "00205627" "05113" "00205628" "05113" "00205629" "05113" "00205630" "00198" "00205631" "05113" "00205632" "05113" "00205633" "05113" "00205634" "05113" "00205635" "05113" "00205636" "05113" "00205637" "05113" "00205638" "05113" "00205639" "05113" "00205640" "05113" "00205641" "05113" "00205642" "05113" "00205643" "05113" "00205644" "05113" "00205645" "05113" "00205646" "05113" "00205647" "05113" "00205648" "05113" "00205649" "05113" "00205650" "05113" "00205651" "05113" "00205652" "05113" "00205653" "05113" "00205654" "05113" "00205655" "05113" "00205656" "05113" "00205657" "05113" "00205658" "05113" "00205659" "05113" "00205660" "05113" "00205661" "05113" "00205662" "05113" "00205663" "05113" "00205664" "05113" "00205665" "05113" "00205666" "05113" "00205667" "05113" "00205668" "00198" "00205669" "05113" "00205670" "05113" "00205671" "05113" "00205672" "05113" "00205673" "00198" "00205674" "05113" "00205675" "05113" "00205676" "05113" "00205677" "05113" "00205678" "05113" "00205679" "05113" "00205680" "05113" "00205681" "05113" "00205682" "05113" "00205683" "05113" "00205684" "05113" "00205685" "05113" "00205686" "05113" "00205687" "05113" "00205688" "05113" "00205689" "05113" "00205690" "05113" "00205691" "05113" "00205692" "05113" "00205693" "05113" "00205694" "05113" "00205695" "05113" "00205696" "05113" "00205697" "05113" "00205698" "05113" "00205699" "05113" "00205700" "05113" "00205701" "05113" "00205702" "05113" "00205703" "05113" "00205704" "05113" "00205705" "05113" "00205706" "05113" "00205707" "05113" "00205708" "05113" "00205709" "05113" "00205710" "05113" "00205711" "05113" "00205712" "05113" "00205713" "05113" "00205714" "05113" "00205715" "05113" "00205716" "05113" "00205717" "05113" "00205718" "05113" "00205719" "05113" "00205720" "05113" "00205721" "05113" "00205722" "05113" "00205723" "05113" "00205724" "05113" "00205725" "05113" "00205726" "05113" "00205727" "05113" "00205728" "05113" "00205729" "05113" "00205730" "05113" "00205731" "05113" "00205732" "05113" "00205733" "05113" "00205734" "05113" "00205735" "05113" "00205736" "05113" "00205737" "05113" "00205738" "05113" "00205739" "05113" "00205740" "05113" "00205741" "05113" "00205742" "05113" "00205743" "05113" "00205744" "05113" "00205745" "05113" "00205746" "05113" "00205747" "05113" "00205748" "05113" "00205749" "05113" "00205750" "05113" "00205751" "05113" "00205752" "05113" "00205753" "05113" "00205754" "05113" "00205755" "05113" "00205756" "05113" "00205757" "05113" "00205758" "05113" "00205759" "05113" "00205760" "05113" "00205761" "05113" "00205762" "05113" "00205763" "05113" "00205764" "05113" "00205765" "05113" "00205766" "05113" "00205767" "05113" "00205768" "05113" "00205769" "05113" "00205770" "05113" "00205771" "05113" "00205772" "05113" "00205773" "05113" "00205774" "05113" "00205775" "05113" "00205776" "05113" "00205777" "05113" "00205778" "05113" "00205779" "05113" "00205780" "05113" "00205781" "05113" "00205782" "05113" "00205783" "05113" "00205784" "05113" "00205785" "05113" "00205786" "05113" "00205787" "05113" "00205788" "05113" "00205789" "05113" "00205790" "05113" "00205791" "05113" "00205792" "05113" "00205793" "05113" "00205794" "05113" "00205795" "05113" "00205796" "05113" "00205797" "05113" "00205798" "05113" "00205799" "05113" "00205800" "05113" "00205801" "05113" "00205802" "05113" "00205803" "05113" "00205804" "05113" "00205805" "05113" "00205806" "05113" "00205807" "00198" "00205808" "05113" "00205809" "05113" "00205810" "05113" "00205811" "05113" "00205812" "00000" "00205813" "05113" "00205814" "05113" "00205815" "05113" "00205816" "05113" "00205817" "05113" "00205818" "05113" "00205819" "05113" "00205820" "05113" "00205821" "05113" "00205822" "05113" "00205823" "05113" "00205824" "05113" "00205825" "05113" "00205826" "05113" "00205827" "05113" "00205828" "05113" "00205829" "05113" "00205830" "05113" "00205831" "05113" "00205832" "05113" "00205833" "05113" "00205834" "05113" "00205835" "05113" "00205836" "05113" "00205837" "05113" "00205838" "05113" "00205839" "05113" "00205840" "05113" "00208602" "05383" "00218414" "00198" "00219084" "05113" "00219085" "05113" "00219086" "05113" "00219087" "05113" "00219088" "05113" "00219089" "05113" "00219090" "05113" "00219091" "05113" "00219092" "05113" "00219093" "05113" "00229597" "02219" "00229599" "02219" "00229600" "02219" "00263918" "00199" "00263919" "00199" "00263920" "00199" "00263921" "00199" "00263922" "00199" "00263923" "00199" "00263924" "00199" "00263925" "00199" "00263926" "00199" "00263927" "00199" "00263928" "00199" "00263929" "00199" "00263930" "00199" "00263931" "00199" "00276052" "00198" "00276350" "02219" "00285115" "00198" "00295091" "00198" "00295092" "00198" "00299995" "05113" "00299996" "00199" "00299997" "05113" "00299998" "00199" "00300021" "00199" "00300056" "00199" "00300057" "05384" "00300058" "05384" "00300059" "05113" "00300060" "05113" "00300107" "00199" "00320260" "02219" "00320261" "05113" "00320262" "05113" "00320263" "05113" "00320264" "05113" "00320265" "05113" "00320266" "05113" "00320267" "05113" "00320268" "05113" "00374327" "00198" "00386511" "00198" "00398511" "05113" "00398575" "02219" "00398593" "02219" "00398594" "02219" "00398595" "02219" "00398979" "02219" "00399473" "02219" "00399474" "02219" "00399475" "02219" "00399476" "02219" "00399477" "02219" "00399563" "02219" "00399564" "02219" "00399565" "02219" "00399566" "02219" "00399569" "02219" "00399570" "02219" "00399571" "02219" "00407631" "02219" "00414356" "00198" "00455798" "00198" "00464284" "02219" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00199, 02219, 05113, 05383, 05384 ## Count = 355 "{{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}}" "0000153702" "05113" "00205546" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153703" "05113" "00205547" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153704" "05113" "00205548" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153705" "05113" "00205549" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153706" "05113" "00205550" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153707" "05113" "00205551" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153708" "05113" "00205552" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153709" "05113" "00205553" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153710" "05113" "00205554" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153711" "05113" "00205555" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153712" "05113" "00205556" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153713" "05113" "00205557" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153714" "05113" "00205558" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153715" "05113" "00205559" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153716" "05113" "00205560" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153717" "05113" "00205561" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153718" "05113" "00205562" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153719" "05113" "00205563" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153720" "05113" "00205564" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153721" "05113" "00205565" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, demyelinating" "" "0000153722" "05113" "00205566" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153723" "05113" "00205567" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153724" "05113" "00205568" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153725" "05113" "00205569" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153726" "05113" "00205570" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153727" "05113" "00205571" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153728" "05113" "00205572" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153729" "05113" "00205573" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153730" "05113" "00205574" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153731" "05113" "00205575" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153732" "05113" "00205576" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153733" "00198" "00205577" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Central nervous system dysfunction" "" "0000153734" "05113" "00205578" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153735" "05113" "00205579" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153736" "05113" "00205580" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153737" "05113" "00205581" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153738" "05113" "00205582" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153739" "05113" "00205583" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153740" "05113" "00205584" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153741" "05113" "00205585" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153742" "05113" "00205586" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153743" "05113" "00205587" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153744" "05113" "00205588" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153745" "05113" "00205589" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153746" "05113" "00205590" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153747" "05113" "00205591" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153748" "05113" "00205592" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153749" "05113" "00205593" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153750" "05113" "00205594" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked type 1" "" "0000153751" "05113" "00205595" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153752" "05113" "00205596" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153753" "05113" "00205597" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153754" "05113" "00205598" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153755" "05113" "00205599" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153756" "05113" "00205600" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153757" "05113" "00205601" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153758" "05113" "00205602" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153759" "05113" "00205603" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153760" "05113" "00205604" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153761" "05113" "00205605" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153762" "05113" "00205606" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153763" "05113" "00205607" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153764" "05113" "00205608" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153765" "05113" "00205609" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153766" "05113" "00205610" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153767" "05113" "00205611" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153768" "05113" "00205612" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153769" "05113" "00205613" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, axonal" "" "0000153770" "05113" "00205614" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153771" "05113" "00205615" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153772" "05113" "00205616" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153773" "05113" "00205617" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153774" "05113" "00205618" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153775" "05113" "00205619" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153776" "05113" "00205620" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153777" "05113" "00205621" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153778" "05113" "00205622" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153779" "05113" "00205623" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153780" "05113" "00205624" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153781" "05113" "00205625" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153782" "05113" "00205626" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153783" "05113" "00205627" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153784" "05113" "00205628" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153785" "05113" "00205629" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153786" "00198" "00205630" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Inflammatory demyelinating neuropathy" "" "0000153787" "05113" "00205631" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153788" "05113" "00205632" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153789" "05113" "00205633" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153790" "05113" "00205634" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153791" "05113" "00205635" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153792" "05113" "00205636" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153793" "05113" "00205637" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153794" "05113" "00205638" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153795" "05113" "00205639" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153796" "05113" "00205640" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153797" "05113" "00205641" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153798" "05113" "00205642" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153799" "05113" "00205643" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153800" "05113" "00205644" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153801" "05113" "00205645" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153802" "05113" "00205646" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153803" "05113" "00205647" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153804" "05113" "00205648" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153805" "05113" "00205649" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153806" "05113" "00205650" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153807" "05113" "00205651" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153808" "05113" "00205652" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153809" "05113" "00205653" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153810" "05113" "00205654" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153811" "05113" "00205655" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153812" "05113" "00205656" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153813" "05113" "00205657" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153814" "05113" "00205658" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153815" "05113" "00205659" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153816" "05113" "00205660" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153817" "05113" "00205661" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153818" "05113" "00205662" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153819" "05113" "00205663" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153820" "05113" "00205664" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153821" "05113" "00205665" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153822" "05113" "00205666" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153823" "05113" "00205667" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153824" "00198" "00205668" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "polyneuropathy, late-onset" "" "0000153825" "05113" "00205669" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153826" "05113" "00205670" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153827" "05113" "00205671" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153828" "05113" "00205672" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153829" "00198" "00205673" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient central nervous system symptom in CMT1X disease" "" "0000153830" "05113" "00205674" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153831" "05113" "00205675" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153832" "05113" "00205676" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153833" "05113" "00205677" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153834" "05113" "00205678" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153835" "05113" "00205679" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153836" "05113" "00205680" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153837" "05113" "00205681" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153838" "05113" "00205682" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153839" "05113" "00205683" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153840" "05113" "00205684" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153841" "05113" "00205685" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153842" "05113" "00205686" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153843" "05113" "00205687" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153844" "05113" "00205688" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153845" "05113" "00205689" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153846" "05113" "00205690" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153847" "05113" "00205691" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153848" "05113" "00205692" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153849" "05113" "00205693" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153850" "05113" "00205694" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153851" "05113" "00205695" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153852" "05113" "00205696" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153853" "05113" "00205697" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153854" "05113" "00205698" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153855" "05113" "00205699" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153856" "05113" "00205700" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153857" "05113" "00205701" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153858" "05113" "00205702" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153859" "05113" "00205703" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153860" "05113" "00205704" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153861" "05113" "00205705" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153862" "05113" "00205706" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153863" "05113" "00205707" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153864" "05113" "00205708" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153865" "05113" "00205709" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153866" "05113" "00205710" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153867" "05113" "00205711" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153868" "05113" "00205712" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153869" "05113" "00205713" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153870" "05113" "00205714" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153871" "05113" "00205715" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153872" "05113" "00205716" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153873" "05113" "00205717" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153874" "05113" "00205718" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153875" "05113" "00205719" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153876" "05113" "00205720" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153877" "05113" "00205721" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153878" "05113" "00205722" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153879" "05113" "00205723" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153880" "05113" "00205724" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153881" "05113" "00205725" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153882" "05113" "00205726" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153883" "05113" "00205727" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153884" "05113" "00205728" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153885" "05113" "00205729" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153886" "05113" "00205730" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153887" "05113" "00205731" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153888" "05113" "00205732" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153889" "05113" "00205733" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153890" "05113" "00205734" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153891" "05113" "00205735" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153892" "05113" "00205736" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153893" "05113" "00205737" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153894" "05113" "00205738" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153895" "05113" "00205739" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153896" "05113" "00205740" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153897" "05113" "00205741" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153898" "05113" "00205742" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153899" "05113" "00205743" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153900" "05113" "00205744" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153901" "05113" "00205745" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153902" "05113" "00205746" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153903" "05113" "00205747" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153904" "05113" "00205748" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153905" "05113" "00205749" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153906" "05113" "00205750" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153907" "05113" "00205751" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153908" "05113" "00205752" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153909" "05113" "00205753" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153910" "05113" "00205754" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153911" "05113" "00205755" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153912" "05113" "00205756" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153913" "05113" "00205757" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153914" "05113" "00205758" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153915" "05113" "00205759" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153916" "05113" "00205760" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153917" "05113" "00205761" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153918" "05113" "00205762" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153919" "05113" "00205763" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153920" "05113" "00205764" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153921" "05113" "00205765" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Demyelinating polyneuropathy and motor axonal loss" "" "0000153922" "05113" "00205766" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153923" "05113" "00205767" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153924" "05113" "00205768" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153925" "05113" "00205769" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153926" "05113" "00205770" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153927" "05113" "00205771" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153928" "05113" "00205772" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153929" "05113" "00205773" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153930" "05113" "00205774" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153931" "05113" "00205775" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153932" "05113" "00205776" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153933" "05113" "00205777" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153934" "05113" "00205778" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153935" "05113" "00205779" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153936" "05113" "00205780" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153937" "05113" "00205781" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153938" "05113" "00205782" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153939" "05113" "00205783" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153940" "05113" "00205784" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease with deafness" "" "0000153941" "05113" "00205785" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153942" "05113" "00205786" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153943" "05113" "00205787" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153944" "05113" "00205788" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153945" "05113" "00205789" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153946" "05113" "00205790" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153947" "05113" "00205791" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153948" "05113" "00205792" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153949" "05113" "00205793" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153950" "05113" "00205794" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153951" "05113" "00205795" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153952" "05113" "00205796" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153953" "05113" "00205797" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153954" "05113" "00205798" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153955" "05113" "00205799" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153956" "05113" "00205800" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153957" "05113" "00205801" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153958" "05113" "00205802" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153959" "05113" "00205803" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153960" "05113" "00205804" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153961" "05113" "00205805" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153962" "05113" "00205806" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153963" "00198" "00205807" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Inflammatory demyelinating neuropathy" "" "0000153964" "05113" "00205808" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153965" "05113" "00205809" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153966" "05113" "00205810" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153967" "05113" "00205811" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153968" "00000" "00205812" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153969" "05113" "00205813" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153970" "05113" "00205814" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153971" "05113" "00205815" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153972" "05113" "00205816" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153973" "05113" "00205817" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153974" "05113" "00205818" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153975" "05113" "00205819" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153976" "05113" "00205820" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153977" "05113" "00205821" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153978" "05113" "00205822" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153979" "05113" "00205823" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153980" "05113" "00205824" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153981" "05113" "00205825" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153982" "05113" "00205826" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease with pyramidal signs" "" "0000153983" "05113" "00205827" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153984" "05113" "00205828" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153985" "05113" "00205829" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153986" "05113" "00205830" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153987" "05113" "00205831" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153988" "05113" "00205832" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153989" "05113" "00205833" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153990" "05113" "00205834" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease, X-linked" "" "0000153991" "05113" "00205835" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153992" "05113" "00205836" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153993" "05113" "00205837" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153994" "05113" "00205838" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153995" "05113" "00205839" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth disease" "" "0000153996" "05113" "00205840" "01715" "Familial, X-linked dominant" "" "" "18y" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth neuropathy, X-linked dominant" "" "0000156180" "00198" "00035457" "01164" "Unknown" "" "pes cavus,axonal polyneuropathy; father and grandfather similar symptoms" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000156181" "00198" "00035462" "01164" "Unknown" "" "suspected HMSN" "" "" "" "" "" "" "" "" "" "hereditary motor and sensory neuropathy?" "" "0000156182" "00198" "00035471" "01164" "Unknown" "" "suspected HMSN (axonal), mother also affected" "" "" "" "" "" "" "" "" "" "hereditary motor and sensory neuropathy?" "" "0000157234" "05383" "00208602" "01164" "Unknown" "15y" "Pes cavus (HP:0001761); abnormality of toe (HP:0001780)" "" "" "" "" "" "" "" "" "15y" "13y" "" "0000166898" "00198" "00218414" "01807" "Unknown" "" "HP:0001271 (Polyneuropathy)" "" "" "" "" "" "" "" "" "" "" "" "0000167641" "05113" "00219084" "00006" "Unknown" "" "CMTX1; no family history" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth diseae" "" "0000167642" "05113" "00219085" "00006" "Unknown" "" "CMTX1; no family history" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth diseae" "" "0000167643" "05113" "00219086" "00006" "Familial, X-linked" "" "CMTX1" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth diseae" "" "0000167644" "05113" "00219087" "00006" "Unknown" "" "CMTX1; no family history" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth diseae" "" "0000167645" "05113" "00219088" "00006" "Unknown" "" "CMTX1" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth diseae" "" "0000167646" "05113" "00219089" "00006" "Unknown" "" "CMTX1" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth diseae" "" "0000167647" "05113" "00219090" "00006" "Familial, X-linked" "" "CMTX1" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth diseae" "" "0000167648" "05113" "00219091" "00006" "Familial, X-linked" "" "CMTX1" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth diseae" "" "0000167649" "05113" "00219092" "00006" "Familial, X-linked" "" "CMTX1" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth diseae" "" "0000167650" "05113" "00219093" "00006" "Familial, X-linked" "" "CMTX1" "" "" "" "" "" "" "" "" "CMTX-1" "Charcot-Marie-Tooth diseae" "" "0000210608" "00198" "00276052" "01807" "Unknown" "" "Polyneuropathy (HP:0001271)" "" "" "" "" "" "" "" "" "" "" "" "0000217192" "00198" "00285115" "00008" "Unknown" "" "see paper; ..., normal MNCVs in all nerves tested, normal amplitudes of evoked nerve response (left median, left ulnar, right median, right ulnar, left peroneal, and left post-tibial nerves), distal motor latencies prolonged; phenotype consistent with hereditary neuropathy, with liability to pressure palsies" "" "" "" "" "" "" "" "" "" "peripheral neuropathy" "" "0000227316" "05113" "00299995" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227317" "00199" "00299996" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227318" "05113" "00299997" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227319" "00199" "00299998" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227342" "00199" "00300021" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227377" "00199" "00300056" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227378" "05384" "00300057" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "mixed inherited peripheral neuropathy" "" "0000227379" "05384" "00300058" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "mixed inherited peripheral neuropathy" "" "0000227380" "05113" "00300059" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227381" "05113" "00300060" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227428" "00199" "00300107" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000242301" "02219" "00320260" "01164" "Unknown" "" "clinical suspicion of HS(A)N, Charcot foot, sensitive axonal PNP, wound healing disorder" "" "60y" "" "" "" "" "" "" "" "" "" "0000242302" "05113" "00320261" "03239" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX1" "Charcor-Marie-Tooth" "" "0000242303" "05113" "00320262" "03239" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX1" "Charcor-Marie-Tooth" "" "0000242304" "05113" "00320263" "03239" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX1" "Charcor-Marie-Tooth" "" "0000242305" "05113" "00320264" "03239" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX1" "Charcor-Marie-Tooth" "" "0000242306" "05113" "00320265" "03239" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX1" "Charcor-Marie-Tooth" "" "0000242307" "05113" "00320266" "03239" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX1" "Charcor-Marie-Tooth" "" "0000242308" "05113" "00320267" "03239" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX1" "Charcor-Marie-Tooth" "" "0000242309" "05113" "00320268" "03239" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX1" "Charcor-Marie-Tooth" "" "0000269537" "00198" "00374327" "00006" "Familial, X-linked" "" "Progressive thinning and weakness of feet and hands, burning paresthesias in bilateral foot and palms, recurrent falls, hypotonia, absence of deep tendon reflexes, bilateral dorsiflexion and small hand muscle wasting" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000280317" "00198" "00386511" "00006" "Unknown" "" "muscle atrophy; gait disturbance; reduced motor nerve conduction (neurological)" "" "" "" "" "" "" "" "" "" "" "" "0000291675" "05113" "00398511" "04209" "Familial, X-linked dominant" "54y" "see paper; ..., gait disturbance (HP:0001288), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484),\r\nUpper limb amyotrophy (HP:0009129), Lower limb amyotrophy (HP:0007210), Distal sensory impairment (HP:0002936)" "10y-20y" "" "Lower limb muscle weakness (HP:0007340)" "" "" "" "" "" "CMTX1" "Charcot-Marie-Tooth disease" "" "0000291696" "02219" "00398575" "04209" "Familial, X-linked recessive" "49y" "see paper; Gait disturbance (HP:0001288), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484),\r\nUpper limb amyotrophy (HP:0009129), Lower limb amyotrophy (HP:0007210), Reduced tendon reflexes (HP:0001315), Distal sensory impairment (HP:0002936)" "10y-20y" "" "Lower limb muscle weakness (HP:0007340)" "" "" "" "" "" "CMTX1" "Charcot-Marie-Tooth disease" "" "0000291697" "02219" "00398593" "04209" "Familial, X-linked recessive" "35y" "see paper; Gait disturbance (HP:0001288), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484),\r\nUpper limb amyotrophy (HP:0009129), Lower limb amyotrophy (HP:0007210), Reduced tendon reflexes (HP:0001315)" ">10y" "" "Lower limb muscle weakness (HP:0007340)" "" "" "" "" "" "CMTX1" "Charcot-Marie-Tooth disease" "" "0000291698" "02219" "00398594" "04209" "Familial, X-linked recessive" "25y" "see paper; Gait disturbance (HP:0001288), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484),\r\nUpper limb amyotrophy (HP:0009129), Lower limb amyotrophy (HP:0007210), Reduced tendon reflexes (HP:0001315), Hand tremor (HP:0002378), No pyramidal signs (-HP:0002936), EMG abnormality (HP:0003457)" "14y" "" "Lower limb muscle weakness (HP:0007340)" "" "" "" "" "" "CMTX1" "Charcot-Marie-Tooth disease" "" "0000291699" "02219" "00398595" "04209" "Familial, X-linked recessive" "25y" "see paper; No pyramidal signs (-HP:0001288), No pyramidal signs (-HP:0001761), No pyramidal signs (-HP:0003484), No pyramidal signs (-HP:0007340), Upper limb amyotrophy (HP:0009129), No pyramidal signs (-HP:0001315), No pyramidal signs (-HP:0002378), No pyramidal signs (-HP:0002936), EMG abnormality (HP:0003457)" ">20y" "" "Lower limb amyotrophy (HP:0007210)" "" "" "" "" "" "CMTX1" "Charcot-Marie-Tooth disease" "" "0000292068" "02219" "00398979" "04217" "Familial, X-linked dominant" "32y" "see paper;…, symmetrical muscle atrophy distal amyotrophy (HP:0003693); foot dorsiflexor weakness (HP:0009027);\r\npes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); mixed demyelinating and axonal polyneuropathy (HP:0007327)" "20y" "" "distal lower limb muscle weakness (HP:0009053)" "" "" "" "" "" "" "CMT1X" "" "0000292578" "02219" "00399473" "04217" "Familial, X-linked dominant" "57y" "see paper;…, symmetrical muscle atrophy distal amyotrophy (HP:0003693); distal lower limb muscle weakness (HP:0009053); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315)" "50y" "" "" "" "" "" "" "" "" "CMT1X" "" "0000292579" "02219" "00399474" "04217" "Familial, X-linked dominant" "60y" "see paper;…, symmetrical muscle atrophy distal amyotrophy (HP:0003693); distal lower limb muscle weakness (HP:0009053); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); gait disturbance (HP:0001288)" "30y" "" "" "" "" "" "" "" "" "CMT1X" "" "0000292580" "02219" "00399475" "04217" "Familial, X-linked dominant" "55y" "see paper;…, symmetrical muscle atrophy distal amyotrophy (HP:0003693); distal lower limb muscle weakness (HP:0009053); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315)" "30y" "" "" "" "" "" "" "" "" "CMT1X" "" "0000292581" "02219" "00399476" "04217" "Familial, X-linked dominant" "11y" "see paper;…, distal lower limb muscle weakness (HP:0009053); steppage gait (HP:0003376); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); peripheral neuropathy (HP:0009830); \r\nmixed demyelinating and axonal polyneuropathy (HP:0007327)" "06y" "" "gait disturbance (HP:0001288)" "" "" "" "" "" "" "CMT1X" "" "0000292582" "02219" "00399477" "04217" "Familial, X-linked dominant" "41y" "see paper;…, decreased compound muscle action potential amplitude (HP:0033383)" "" "41y" "" "" "" "" "" "" "CMT1X" "" "" "0000292669" "02219" "00399563" "04217" "Familial, X-linked" "20y" "see paper; ..., steppage gait (HP:0003376); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); distal amyotrophy (HP:0003693); areflexia (HP:0001284); clubbing of fingers (HP:0100759); soft tissue swelling of interphalangeal joints (HP:0006162); mixed demyelinating and axonal polyneuropathy (HP:0007327); decreased compound muscle action potential amplitude (HP:0033383)" "16y" "" "distal lower limb muscle weakness (HP:0009053)" "" "" "" "" "" "" "CMT1X" "" "0000292670" "02219" "00399564" "04217" "Familial, X-linked" "29y" "see paper; ..., distal lower limb muscle weakness (HP:0009053); pes cavus (HP:0001761); reduced tendon reflexes (HP:0001315); gait disturbance (HP:0001288); distal amyotrophy (HP:0003693)" "15y" "" "distal lower limb muscle weakness (HP:0009053)" "" "" "" "" "" "" "CMT1X" "" "0000292671" "02219" "00399565" "04217" "Familial, X-linked dominant" "37y" "see paper; ..., distal lower limb amyotrophy (HP:0008944); lower limb muscle weakness (HP:0007340); distal lower limb amyotrophy (HP:0008944); areflexia (HP:0001284); pes cavus (HP:0001761); steppage gait (HP:0003376); mixed demyelinating and axonal polyneuropathy (HP:0007327); reduced tendon reflexes (HP:0001315)" "27y" "" "gait disturbance (HP:0001288)" "" "" "" "" "" "" "CMT1X" "" "0000292672" "02219" "00399566" "04217" "Familial, X-linked" "65y" "see paper; ..., muscle weakness (HP:0001324); reduced tendon reflexes (HP:0001315); gait disturbance (HP:0001288); pes cavus (HP:0001761)" "35y" "" "abnormal foot morphology (HP:0001760)" "" "" "" "" "" "" "CMT1X" "" "0000292673" "02219" "00399569" "04217" "Familial, X-linked dominant" "33y-46y" "see paper; ..., muscle weakness (HP:0001324); distal lower limb amyotrophy (HP:0008944); reduced tendon reflexes (HP:0001315); pes cavus (HP:0001761); steppage gait (HP:0003376); areflexia (HP:0001284); split hand HP:0001171; mixed demyelinating and axonal polyneuropathy (HP:0007327)" "16y" "" "gait disturbance (HP:0001288)" "" "" "" "" "" "" "CMT1X" "" "0000292675" "02219" "00399570" "04217" "Familial, X-linked dominant" "39y" "see paper; ..., hearing impairment (HP:0000365); dysesthesia (HP:0012534); muscle weakness (HP:0001324); reduced tendon reflexes (HP:0001315); distal amyotrophy (HP:0003693); areflexia (HP:0001284); clubbing of fingers (HP:0100759); soft tissue swelling of interphalangeal joints (HP:0006162); split hand HP:0001171; pes cavus (HP:0001761); steppage gait (HP:0003376); mixed demyelinating and axonal polyneuropathy (HP:0007327)" "12y" "" "gait disturbance (HP:0001288); frequent falls (HP:0002359)" "" "" "" "" "" "" "CMT1X" "" "0000292676" "02219" "00399571" "04217" "Familial, X-linked dominant" "72y" "see paper; ..., muscle weakness (HP:0001324); distal amyotrophy (HP:0003693); reduced tendon reflexes (HP:0001315); pes cavus (HP:0001761)" "30y" "" "gait disturbance (HP:0001288)" "" "" "" "" "" "" "CMT1X" "" "0000306191" "00198" "00414356" "00000" "Familial, X-linked recessive" "11y" "" "" "" "" "" "" "" "" "" "X-linked Charcot-Marie-Tooth disease 1" "" "" "0000344331" "00198" "00455798" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "CMTX1" "neurogenetic diseases" "" "0000350346" "02219" "00464284" "01164" "Familial, X-linked" "60y" "Sensorimotor neuropathy, Distal sensory impairment, educed motor nerve conduction velocity, positive family history of HSMN (brother and mother, carriers of the same variant p.Arg181Ala)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 395 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035523" "00035453" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035524" "00035454" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035525" "00035455" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035526" "00035456" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035527" "00035457" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035528" "00035458" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035529" "00035459" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035530" "00035460" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035531" "00035461" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035532" "00035462" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035533" "00035463" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035534" "00035464" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035535" "00035465" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035536" "00035466" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035537" "00035467" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035538" "00035468" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035539" "00035469" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035540" "00035470" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035541" "00035471" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" 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"1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265031" "00263921" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265032" "00263922" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265033" "00263923" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265034" "00263924" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265035" "00263925" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265036" "00263926" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265037" "00263927" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265038" "00263928" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265039" "00263929" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265040" "00263930" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265041" "00263931" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000277199" "00276052" "1" "01807" "01807" "2020-01-24 11:03:03" "" "" "SEQ" "DNA" "" "" "0000277496" "00276350" "1" "01741" "01741" "2020-01-31 14:41:38" "" "" "SEQ" "DNA" "" "" "0000286265" "00285115" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000296259" "00295091" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296260" "00295092" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301111" "00299995" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301112" "00299996" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301113" "00299997" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301114" "00299998" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301137" "00300021" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301172" "00300056" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301173" "00300057" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301174" "00300058" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301175" "00300059" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301176" "00300060" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301223" "00300107" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000321446" "00320260" "1" "01164" "01164" "2020-11-25 17:49:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000321447" "00320261" "1" "03239" "00006" "2020-11-26 14:51:26" "" "" "SEQ" "DNA" "" "" "0000321448" "00320262" "1" "03239" "00006" "2020-11-26 14:51:26" "" "" "SEQ" "DNA" "" "" "0000321449" "00320263" "1" "03239" "00006" "2020-11-26 14:51:26" "" "" "SEQ" "DNA" "" "" "0000321450" "00320264" "1" "03239" "00006" "2020-11-26 14:51:26" "" "" "SEQ" "DNA" "" "" "0000321451" "00320265" "1" "03239" "00006" "2020-11-26 14:51:26" "" "" "SEQ" "DNA" "" "" "0000321452" "00320266" "1" "03239" "00006" "2020-11-26 14:51:26" "" "" "SEQ" "DNA" "" "" "0000321453" "00320267" "1" "03239" "00006" "2020-11-26 14:51:26" "" "" "SEQ" "DNA" "" "" "0000321454" "00320268" "1" "03239" "00006" "2020-11-26 14:51:26" "" "" "SEQ" "DNA" "" "" "0000375521" "00374327" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000387738" "00386511" "1" "00006" "00006" "2021-10-22 17:45:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000399757" "00398511" "1" "04209" "04209" "2022-01-05 19:28:18" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000399838" "00398575" "1" "04209" "04209" "2022-01-06 20:54:34" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000399839" "00398593" "1" "04209" "04209" "2022-01-06 21:09:31" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000399840" "00398594" "1" "04209" "04209" "2022-01-06 21:41:51" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000399841" "00398595" "1" "04209" "04209" "2022-01-06 22:08:03" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000400224" "00398979" "1" "04217" "04217" "2022-01-14 23:22:48" "04217" "2022-01-14 23:48:32" "PCR;SEQ-NG;Western" "DNA;protein" "" "" "0000400715" "00399473" "1" "04217" "04217" "2022-01-20 20:36:11" "" "" "PCR;SEQ-NG;Western" "DNA;protein" "" "" "0000400717" "00399474" "1" "04217" "04217" "2022-01-20 20:46:31" "" "" "PCR;SEQ-NG;Western" "DNA;protein" "" "" "0000400718" "00399475" "1" "04217" "04217" "2022-01-20 20:54:29" "" "" "PCR;SEQ-NG;Western" "DNA;protein" "" "" "0000400719" "00399476" "1" "04217" "04217" "2022-01-20 21:54:46" "" "" "PCR;SEQ-NG;Western" "DNA;protein" "" "" "0000400720" "00399477" "1" "04217" "04217" "2022-01-20 22:14:07" "" "" "PCR;SEQ-NG;Western" "DNA;protein" "" "" "0000400806" "00399563" "1" "04217" "04217" "2022-01-21 19:32:20" "" "" "PCR;SEQ-NG;Western" "DNA;protein" "" "" "0000400807" "00399564" "1" "04217" "04217" "2022-01-21 19:49:07" "" "" "PCR;SEQ-NG;Western" "DNA;protein" "" "" "0000400808" "00399565" "1" "04217" "04217" "2022-01-21 20:41:11" "" "" "PCR;SEQ-NG;Western" "DNA;protein" "" "" "0000400809" "00399566" "1" "04217" "04217" "2022-01-21 20:57:24" "" "" "PCR;SEQ-NG;Western" "DNA;protein" "" "" "0000400811" "00399569" "1" "04217" "04217" "2022-01-21 21:31:59" "" "" "PCR;SEQ-NG;Western" "DNA;protein" "" "" "0000400813" "00399570" "1" "04217" "04217" "2022-01-21 22:10:43" "" "" "PCR;SEQ-NG;Western" "DNA;protein" "" "" "0000400814" "00399571" "1" "04217" "04217" "2022-01-21 22:20:12" "" "" "PCR;SEQ-NG;Western" "DNA;protein" "" "" "0000408883" "00407631" "1" "00636" "00636" "2022-04-07 09:57:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000415636" "00414356" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000457414" "00455798" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000465915" "00464284" "1" "01164" "01164" "2025-02-27 16:00:33" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 376 "{{screeningid}}" "{{geneid}}" "0000035523" "GJB1" "0000035524" "GJB1" "0000035525" "GJB1" "0000035526" "GJB1" "0000035527" "GJB1" "0000035528" "GJB1" "0000035529" "GJB1" "0000035530" "GJB1" "0000035531" "GJB1" "0000035532" "GJB1" "0000035533" "GJB1" "0000035534" "GJB1" "0000035535" "GJB1" "0000035536" "GJB1" "0000035537" "GJB1" "0000035538" "GJB1" "0000035539" "GJB1" "0000035540" "GJB1" "0000035541" "GJB1" "0000035542" "GJB1" "0000035543" "GJB1" "0000035544" "GJB1" "0000206575" "GJB1" "0000206576" "GJB1" "0000206577" "GJB1" "0000206578" "GJB1" "0000206579" "GJB1" "0000206580" "GJB1" "0000206581" "GJB1" "0000206582" "GJB1" "0000206583" "GJB1" "0000206584" "GJB1" "0000206585" "GJB1" "0000206586" "GJB1" "0000206587" "GJB1" "0000206588" "GJB1" "0000206589" "GJB1" "0000206590" "GJB1" "0000206591" "GJB1" "0000206592" "GJB1" "0000206593" "GJB1" "0000206594" "GJB1" "0000206595" "GJB1" "0000206596" "GJB1" "0000206597" "GJB1" "0000206598" "GJB1" 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"0000206849" "GJB1" "0000206850" "GJB1" "0000206851" "GJB1" "0000206852" "GJB1" "0000206853" "GJB1" "0000206854" "GJB1" "0000206855" "GJB1" "0000206856" "GJB1" "0000206857" "GJB1" "0000206858" "GJB1" "0000206859" "GJB1" "0000206860" "GJB1" "0000206861" "GJB1" "0000206862" "GJB1" "0000206863" "GJB1" "0000206864" "GJB1" "0000206865" "GJB1" "0000206866" "GJB1" "0000206867" "GJB1" "0000206868" "GJB1" "0000206869" "GJB1" "0000209651" "GJB1" "0000220156" "GJB1" "0000220157" "GJB1" "0000220158" "GJB1" "0000220159" "GJB1" "0000220160" "GJB1" "0000220161" "GJB1" "0000220162" "GJB1" "0000220163" "GJB1" "0000220164" "GJB1" "0000220165" "GJB1" "0000230689" "GJB1" "0000230691" "GJB1" "0000230692" "GJB1" "0000265028" "GJB1" "0000265029" "GJB1" "0000265030" "GJB1" "0000265031" "GJB1" "0000265032" "GJB1" "0000265033" "GJB1" "0000265034" "GJB1" "0000265035" "GJB1" "0000265036" "GJB1" "0000265037" "GJB1" "0000265038" "GJB1" "0000265039" "GJB1" "0000265040" "GJB1" "0000265041" "GJB1" "0000277496" "GJB1" "0000286265" "KARS" "0000301111" "GJB1" "0000301112" "GJB1" "0000301113" "GJB1" "0000301114" "GJB1" "0000301137" "GJB1" "0000301137" "PMP22" "0000301172" "GJB1" "0000301173" "GJB1" "0000301174" "GJB1" "0000301175" "GJB1" "0000301176" "GJB1" "0000301223" "GJB1" "0000321446" "GJB1" "0000321447" "GJB1" "0000321448" "GJB1" "0000321449" "GJB1" "0000321450" "GJB1" "0000321451" "GJB1" "0000321452" "GJB1" "0000321453" "GJB1" "0000321454" "GJB1" "0000375521" "GJB1" "0000399757" "GJB1" "0000399838" "GJB1" "0000399839" "GJB1" "0000399840" "GJB1" "0000399841" "GJB1" "0000415636" "GJB1" "0000465915" "GJB1" ## 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 = 719 "{{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}}" "0000062642" "1" "90" "X" "70443681" "70443682" "del" "0" "01164" "GJB1_001015" "g.70443681_70443682del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71223831_71223832del" "" "pathogenic" "" "0000062643" "1" "50" "X" "70444718" "70444718" "subst" "0" "01164" "GJB1_001004" "g.70444718G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224868G>C" "" "VUS" "" "0000062644" "1" "90" "X" "70443621" "70443621" "subst" "0" "01164" "GJB1_001013" "g.70443621C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71223771C>T" "" "pathogenic" "" "0000062645" "1" "50" "X" "70443672" "70443672" "subst" "0" "01164" "GJB1_001014" "g.70443672G>A" "" "" "" "" "PolyPhen:prob.damag.(PSIC:0,962); but c.115G>C described as path.:Ekici AB et. all., Neurogenetics. 2000 Sep;3(1):49-50., and c.116C>T;p.Ala39Val und c.116C>G;p.Ala39Gly)" "Germline" "" "" "0" "" "" "g.71223822G>A" "" "VUS" "" "0000062646" "1" "10" "X" "70443552" "70443552" "subst" "0.00047564" "01164" "GJB1_001022" "g.70443552G>A" "" "" "" "" "male-to-male transmission" "Germline" "" "" "0" "" "" "g.71223702G>A" "" "benign" "" "0000062647" "1" "10" "X" "70443792" "70443792" "subst" "0.00235523" "01164" "GJB1_001018" "g.70443792C>T" "" "" "" "" "IPNMDB" "Germline" "" "" "0" "" "" "g.71223942C>T" "" "benign" "" "0000062648" "1" "10" "X" "70443854" "70443854" "subst" "0" "01164" "GJB1_001019" "g.70443854A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224004A>G" "" "benign" "" "0000062649" "1" "90" "X" "70444105" "70444105" "subst" "0" "01164" "GJB1_001008" "g.70444105G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224255G>C" "" "pathogenic" "" "0000062650" "1" "90" "X" "70443780" "70443780" "subst" "0" "01164" "GJB1_001017" "g.70443780C>T" "" "" "" "" "IPNMDB" "Germline" "" "" "0" "" "" "g.71223930C>T" "" "pathogenic" "" "0000062651" "1" "50" "X" "70443744" "70443744" "subst" "0" "01164" "GJB1_001016" "g.70443744G>A" "" "" "" "" "Polyphen-2: probably damaging" "Germline" "" "" "0" "" "" "g.71223894G>A" "" "VUS" "" "0000062652" "1" "90" "X" "70444098" "70444098" "subst" "0" "01164" "GJB1_001005" "g.70444098G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224248G>C" "" "pathogenic" "" "0000062653" "1" "90" "X" "70444098" "70444098" "subst" "0" "01164" "GJB1_001006" "g.70444098G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224248G>A" "" "pathogenic" "" "0000062654" "1" "90" "X" "70444099" "70444099" "subst" "0" "01164" "GJB1_001007" "g.70444099T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224249T>C" "" "pathogenic" "" "0000062655" "1" "90" "X" "70444116" "70444116" "subst" "0" "01164" "GJB1_001009" "g.70444116A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224266A>G" "" "pathogenic" "" "0000062656" "1" "90" "X" "70444200" "70444200" "subst" "0" "01164" "GJB1_001002" "g.70444200C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224350C>T" "" "pathogenic" "" "0000062657" "1" "50" "X" "70444183" "70444183" "subst" "0" "01164" "GJB1_001001" "g.70444183T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224333T>A" "" "VUS" "" "0000062658" "1" "90" "X" "70444048" "70444048" "subst" "5.99089E-6" "01164" "GJB1_001010" "g.70444048G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224198G>A" "" "pathogenic" "" "0000062659" "1" "90" "X" "70443601" "70443601" "subst" "0" "01164" "GJB1_001012" "g.70443601G>A" "" "" "" "" "IPNMDB" "Germline" "" "" "0" "" "" "g.71223751G>A" "" "pathogenic" "" "0000062660" "1" "90" "X" "70443564" "70443564" "subst" "0" "01164" "GJB1_001021" "g.70443564T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71223714T>C" "" "pathogenic" "" "0000062661" "1" "50" "X" "70444467" "70444467" "subst" "0" "01164" "GJB1_001003" "g.70444467C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224617C>T" "" "VUS" "" "0000062662" "1" "50" "X" "70444089" "70444089" "subst" "0" "01164" "GJB1_001011" "g.70444089G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224239G>A" "" "VUS" "" "0000062663" "1" "90" "X" "70444047" "70444047" "subst" "0" "01164" "GJB1_001020" "g.70444047C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224197C>T" "" "pathogenic" "" "0000247736" "0" "10" "X" "70444382" "70444382" "subst" "0" "02330" "GJB1_001258" "g.70444382A>G" "" "" "" "GJB1(NM_000166.6):c.825A>G (p.E275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224532A>G" "" "benign" "" "0000247751" "0" "30" "X" "70443902" "70443902" "subst" "0" "02330" "GJB1_001146" "g.70443902A>G" "" "" "" "GJB1(NM_000166.6):c.345A>G (p.L115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224052A>G" "" "likely benign" "" "0000247756" "0" "90" "X" "70443694" "70443694" "subst" "0" "02330" "GJB1_001080" "g.70443694A>G" "" "" "" "GJB1(NM_000166.6):c.137A>G (p.D46G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223844A>G" "" "pathogenic" "" "0000247757" "0" "90" "X" "70443862" "70443862" "subst" "0" "02330" "GJB1_001138" "g.70443862A>G" "" "" "" "GJB1(NM_000166.6):c.305A>G (p.E102G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224012A>G" "" "pathogenic" "" "0000247758" "0" "90" "X" "70444180" "70444180" "subst" "0" "02330" "GJB1_001239" "g.70444180A>G" "" "" "" "GJB1(NM_000166.6):c.623A>G (p.E208G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224330A>G" "" "pathogenic" "" "0000247760" "0" "90" "X" "70443697" "70443697" "subst" "0" "02330" "GJB1_001081" "g.70443697A>G" "" "" "" "GJB1(NM_000166.6):c.140A>G (p.E47G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223847A>G" "" "pathogenic" "" "0000247761" "0" "90" "X" "70443604" "70443604" "subst" "0" "02330" "GJB1_001039" "g.70443604A>C" "" "" "" "GJB1(NM_000166.6):c.47A>C (p.H16P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223754A>C" "" "pathogenic" "" "0000247762" "0" "90" "X" "70443864" "70443864" "subst" "0" "02330" "GJB1_001139" "g.70443864A>G" "" "" "" "GJB1(NM_000166.6):c.307A>G (p.K103E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224014A>G" "" "pathogenic" "" "0000247763" "0" "90" "X" "70443868" "70443868" "subst" "0" "02330" "GJB1_001141" "g.70443868A>C" "" "" "" "GJB1(NM_000166.6):c.311A>C (p.K104T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224018A>C" "" "pathogenic" "" "0000247764" "0" "90" "X" "70444056" "70444056" "subst" "0" "02330" "GJB1_001189" "g.70444056A>G" "" "" "" "GJB1(NM_000166.6):c.499A>G (p.K167E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224206A>G" "" "pathogenic" "" "0000247765" "0" "90" "X" "70444116" "70444116" "subst" "0" "02330" "GJB1_001009" "g.70444116A>G" "" "" "" "GJB1(NM_000166.6):c.559A>G (p.K187E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224266A>G" "" "pathogenic" "" "0000247766" "0" "90" "X" "70444137" "70444137" "subst" "0" "02330" "GJB1_001226" "g.70444137A>G" "" "" "" "GJB1(NM_000166.6):c.580A>G (p.M194V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224287A>G" "" "pathogenic" "" "0000247767" "0" "90" "X" "70443657" "70443657" "subst" "0" "02330" "GJB1_000004" "g.70443657A>G" "" "" "" "GJB1(NM_000166.6):c.100A>G (p.M34V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223807A>G" "" "pathogenic" "" "0000247768" "0" "70" "X" "70443834" "70443834" "subst" "0" "02330" "GJB1_001130" "g.70443834A>G" "" "" "" "GJB1(NM_000166.6):c.277A>G (p.M93V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223984A>G" "" "likely pathogenic" "" "0000247769" "0" "90" "X" "70444080" "70444080" "subst" "0" "02330" "GJB1_001199" "g.70444080A>G" "" "" "" "GJB1(NM_000166.6):c.523A>G (p.N175D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224230A>G" "" "pathogenic" "" "0000247770" "0" "90" "X" "70444171" "70444171" "subst" "0" "02330" "GJB1_001235" "g.70444171A>T" "" "" "" "GJB1(NM_000166.6):c.614A>T (p.N205I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224321A>T" "" "pathogenic" "" "0000247771" "0" "90" "X" "70444171" "70444171" "subst" "0" "02330" "GJB1_001236" "g.70444171A>G" "" "" "" "GJB1(NM_000166.6):c.614A>G (p.N205S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224321A>G" "" "pathogenic" "" "0000247772" "0" "90" "X" "70443796" "70443796" "subst" "0" "02330" "GJB1_001111" "g.70443796A>G" "" "" "" "GJB1(NM_000166.6):c.239A>G (p.Q80R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223946A>G" "" "pathogenic" "" "0000247773" "0" "90" "X" "70443588" "70443588" "subst" "0" "02330" "GJB1_001262" "g.70443588A>G" "" "" "" "GJB1(NM_000166.6):c.31A>G (p.S11G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223738A>G" "" "pathogenic" "" "0000247774" "0" "90" "X" "70444083" "70444083" "subst" "0" "02330" "GJB1_001263" "g.70444083A>C" "" "" "" "GJB1(NM_000166.6):c.526A>C (p.T176P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224233A>C" "" "pathogenic" "" "0000247775" "0" "90" "X" "70444119" "70444119" "subst" "0" "02330" "GJB1_001219" "g.70444119A>G" "" "" "" "GJB1(NM_000166.6):c.562A>G (p.T188A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224269A>G" "" "pathogenic" "" "0000247776" "0" "90" "X" "70444128" "70444128" "subst" "0" "02330" "GJB1_001222" "g.70444128A>G" "" "" "" "GJB1(NM_000166.6):c.571A>G (p.T191A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224278A>G" "" "pathogenic" "" "0000247777" "0" "90" "X" "70443720" "70443720" "subst" "0" "02330" "GJB1_001087" "g.70443720A>G" "" "" "" "GJB1(NM_000166.6):c.163A>G (p.T55A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223870A>G" "" "pathogenic" "" "0000247778" "0" "90" "X" "70443813" "70443813" "subst" "0" "02330" "GJB1_001119" "g.70443813A>G" "" "" "" "GJB1(NM_000166.6):c.256A>G (p.T86A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223963A>G" "" "pathogenic" "" "0000247779" "0" "90" "X" "70443813" "70443813" "subst" "0" "02330" "GJB1_001120" "g.70443813A>T" "" "" "" "GJB1(NM_000166.6):c.256A>T (p.T86S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223963A>T" "" "pathogenic" "" "0000247780" "0" "90" "X" "70443579" "70443579" "subst" "0" "02330" "GJB1_001261" "g.70443579A>C" "" "" "" "GJB1(NM_000166.6):c.22A>C (p.T8P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223729A>C" "" "pathogenic" "" "0000247782" "0" "90" "X" "70443961" "70443961" "subst" "0" "02330" "GJB1_001158" "g.70443961A>G" "" "" "" "GJB1(NM_000166.6):c.404A>G (p.Y135C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224111A>G" "" "pathogenic" "" "0000247783" "0" "90" "X" "70444009" "70444009" "subst" "0" "02330" "GJB1_001174" "g.70444009A>C" "" "" "" "GJB1(NM_000166.6):c.452A>C (p.Y151S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224159A>C" "" "pathogenic" "" "0000247784" "0" "90" "X" "70444027" "70444027" "subst" "0" "02330" "GJB1_001180" "g.70444027A>G" "" "" "" "GJB1(NM_000166.6):c.470A>G (p.Y157C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224177A>G" "" "pathogenic" "" "0000247785" "0" "90" "X" "70443751" "70443751" "subst" "0" "02330" "GJB1_001101" "g.70443751A>G" "" "" "" "GJB1(NM_000166.6):c.194A>G (p.Y65C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223901A>G" "" "pathogenic" "" "0000247786" "0" "90" "X" "70443577" "70443577" "subst" "0" "02330" "GJB1_001032" "g.70443577A>G" "" "" "" "GJB1(NM_000166.6):c.20A>G (p.Y7C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223727A>G" "" "pathogenic" "" "0000247791" "0" "50" "X" "70444194" "70444194" "subst" "2.27692E-5" "02330" "GJB1_001244" "g.70444194A>G" "" "" "" "GJB1(NM_000166.5):c.637A>G (p.I213V), GJB1(NM_000166.6):c.637A>G (p.I213V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224344A>G" "" "VUS" "" "0000247792" "0" "50" "X" "70443645" "70443645" "subst" "0" "02330" "GJB1_001057" "g.70443645A>T" "" "" "" "GJB1(NM_000166.6):c.88A>T (p.I30F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223795A>T" "" "VUS" "" "0000247798" "0" "50" "X" "70443969" "70443969" "subst" "0" "02330" "GJB1_001160" "g.70443969A>G" "" "" "" "GJB1(NM_000166.6):c.412A>G (p.S138G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224119A>G" "" "VUS" "" "0000277073" "0" "90" "X" "70443031" "70443031" "subst" "0" "02330" "GJB1_001028" "g.70443031G>C" "" "" "" "GJB1(NM_001097642.3):c.-16-511G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223181G>C" "" "pathogenic" "" "0000277074" "0" "90" "X" "70443029" "70443029" "subst" "0" "02330" "GJB1_001026" "g.70443029T>C" "" "" "" "GJB1(NM_001097642.3):c.-16-513T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223179T>C" "" "pathogenic" "" "0000277075" "0" "90" "X" "70443029" "70443029" "subst" "0" "02330" "GJB1_001027" "g.70443029T>G" "" "" "" "GJB1(NM_001097642.3):c.-16-513T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223179T>G" "" "pathogenic" "" "0000277076" "0" "10" "X" "70442845" "70442845" "subst" "0" "02330" "GJB1_001025" "g.70442845G>A" "" "" "" "GJB1(NM_000166.6):c.-357G>A, GJB1(NM_001097642.2):c.-16-697G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71222995G>A" "" "benign" "" "0000277077" "0" "90" "X" "70442743" "70442743" "subst" "0" "02330" "GJB1_001024" "g.70442743C>T" "" "" "" "GJB1(NM_001097642.3):c.-16-799C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71222893C>T" "" "pathogenic" "" "0000277078" "0" "10" "X" "70443301" "70443301" "subst" "0" "02330" "GJB1_001029" "g.70443301C>T" "" "" "" "GJB1(NM_000166.6):c.-17+116C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223451C>T" "" "benign" "" "0000277079" "0" "10" "X" "70439036" "70439038" "del" "0" "02330" "GJB1_001023" "g.70439036_70439038del" "" "" "" "GJB1(NM_001097642.3):c.-17+3896_-17+3898delATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71219186_71219188del" "" "benign" "" "0000277080" "0" "90" "X" "70443658" "70443658" "subst" "0" "02330" "GJB1_001062" "g.70443658T>A" "" "" "" "GJB1(NM_000166.6):c.101T>A (p.M34K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223808T>A" "" "pathogenic" "" "0000277081" "0" "90" "X" "70443658" "70443658" "subst" "0" "02330" "GJB1_001063" "g.70443658T>C" "" "" "" "GJB1(NM_000166.6):c.101T>C (p.M34T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223808T>C" "" "pathogenic" "" "0000277082" "0" "50" "X" "70443659" "70443659" "subst" "0" "02330" "GJB1_001064" "g.70443659G>A" "" "" "" "GJB1(NM_000166.6):c.102G>A (p.M34I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223809G>A" "" "VUS" "" "0000277083" "0" "90" "X" "70443660" "70443660" "subst" "0" "02330" "GJB1_001065" "g.70443660G>A" "" "" "" "GJB1(NM_000166.6):c.103G>A (p.V35M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223810G>A" "" "pathogenic" "" "0000277084" "0" "90" "X" "70443666" "70443666" "subst" "0" "02330" "GJB1_001066" "g.70443666G>A" "" "" "" "GJB1(NM_000166.6):c.109G>A (p.V37M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223816G>A" "" "pathogenic" "" "0000277085" "0" "90" "X" "70443669" "70443669" "subst" "0" "02330" "GJB1_001067" "g.70443669G>A" "" "" "" "GJB1(NM_000166.6):c.112G>A (p.V38M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223819G>A" "" "pathogenic" "" "0000277086" "0" "90" "X" "70443670" "70443670" "subst" "0" "02330" "GJB1_001068" "g.70443670T>C" "" "" "" "GJB1(NM_000166.6):c.113T>C (p.V38A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223820T>C" "" "pathogenic" "" "0000277088" "0" "90" "X" "70443672" "70443672" "subst" "0" "02330" "GJB1_001070" "g.70443672G>C" "" "" "" "GJB1(NM_000166.6):c.115G>C (p.A39P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223822G>C" "" "pathogenic" "" "0000277089" "0" "90" "X" "70443673" "70443673" "subst" "0" "02330" "GJB1_001071" "g.70443673C>T" "" "" "" "GJB1(NM_000166.6):c.116C>T (p.A39V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223823C>T" "" "pathogenic" "" "0000277090" "0" "90" "X" "70443675" "70443675" "subst" "0" "02330" "GJB1_001072" "g.70443675G>A" "" "" "" "GJB1(NM_000166.6):c.118G>A (p.A40T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223825G>A" "" "pathogenic" "" "0000277091" "0" "90" "X" "70443676" "70443676" "subst" "0" "02330" "GJB1_001073" "g.70443676C>T" "" "" "" "GJB1(NM_000166.6):c.119C>T (p.A40V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223826C>T" "" "pathogenic" "" "0000277092" "0" "90" "X" "70443678" "70443678" "subst" "0" "02330" "GJB1_001074" "g.70443678G>A" "" "" "" "GJB1(NM_000166.6):c.121G>A (p.E41K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223828G>A" "" "pathogenic" "" "0000277093" "0" "90" "X" "70443680" "70443680" "subst" "0" "02330" "GJB1_001075" "g.70443680G>C" "" "" "" "GJB1(NM_000166.6):c.123G>C (p.E41D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223830G>C" "" "pathogenic" "" "0000277094" "0" "90" "X" "70443684" "70443684" "subst" "0" "02330" "GJB1_001076" "g.70443684G>A" "" "" "" "GJB1(NM_000166.6):c.127G>A (p.V43M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223834G>A" "" "pathogenic" "" "0000277095" "0" "50" "X" "70443688" "70443688" "subst" "0" "02330" "GJB1_001077" "g.70443688G>A" "" "" "" "GJB1(NM_000166.6):c.131G>A (p.W44*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223838G>A" "" "VUS" "" "0000277096" "0" "90" "X" "70443688" "70443688" "subst" "0" "02330" "GJB1_001078" "g.70443688G>T" "" "" "" "GJB1(NM_000166.6):c.131G>T (p.W44L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223838G>T" "" "pathogenic" "" "0000277097" "0" "90" "X" "70443689" "70443689" "subst" "0" "02330" "GJB1_001079" "g.70443689G>A" "" "" "" "GJB1(NM_000166.6):c.132G>A (p.W44*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223839G>A" "" "pathogenic" "" "0000277098" "0" "90" "X" "70443702" "70443702" "subst" "0" "02330" "GJB1_001082" "g.70443702T>C" "" "" "" "GJB1(NM_000166.6):c.145T>C (p.S49P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223852T>C" "" "pathogenic" "" "0000277099" "0" "90" "X" "70443703" "70443703" "subst" "0" "02330" "GJB1_001083" "g.70443703C>A" "" "" "" "GJB1(NM_000166.6):c.146C>A (p.S49Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223853C>A" "" "pathogenic" "" "0000277100" "0" "90" "X" "70443705" "70443705" "subst" "0" "02330" "GJB1_001084" "g.70443705T>C" "" "" "" "GJB1(NM_000166.6):c.148T>C (p.S50P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223855T>C" "" "pathogenic" "" "0000277101" "0" "50" "X" "70443710" "70443710" "subst" "0" "02330" "GJB1_001085" "g.70443710C>A" "" "" "" "GJB1(NM_000166.6):c.153C>A (p.F51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223860C>A" "" "VUS" "" "0000277102" "0" "90" "X" "70443715" "70443715" "subst" "0" "02330" "GJB1_001086" "g.70443715G>C" "" "" "" "GJB1(NM_000166.6):c.158G>C (p.C53S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223865G>C" "" "pathogenic" "" "0000277104" "0" "90" "X" "70443721" "70443721" "subst" "0" "02330" "GJB1_001089" "g.70443721C>G" "" "" "" "GJB1(NM_000166.6):c.164C>G (p.T55R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223871C>G" "" "pathogenic" "" "0000277105" "0" "90" "X" "70443721" "70443721" "subst" "0" "02330" "GJB1_001090" "g.70443721C>T" "" "" "" "GJB1(NM_000166.6):c.164C>T (p.T55I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223871C>T" "" "pathogenic" "" "0000277106" "0" "90" "X" "70443723" "70443723" "subst" "0" "02330" "GJB1_001091" "g.70443723C>T" "" "" "" "GJB1(NM_000166.6):c.166C>T (p.L56F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223873C>T" "" "pathogenic" "" "0000277107" "0" "90" "X" "70443730" "70443730" "subst" "0" "02330" "GJB1_001092" "g.70443730C>G" "" "" "" "GJB1(NM_000166.6):c.173C>G (p.P58R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223880C>G" "" "pathogenic" "" "0000277108" "0" "90" "X" "70443732" "70443732" "subst" "0" "02330" "GJB1_001093" "g.70443732G>C" "" "" "" "GJB1(NM_000166.6):c.175G>C (p.G59R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223882G>C" "" "pathogenic" "" "0000277109" "0" "90" "X" "70443732" "70443732" "subst" "0" "02330" "GJB1_001094" "g.70443732G>T" "" "" "" "GJB1(NM_000166.6):c.175G>T (p.G59C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223882G>T" "" "pathogenic" "" "0000277110" "0" "50" "X" "70443735" "70443735" "subst" "0" "02330" "GJB1_001095" "g.70443735T>A" "" "" "" "GJB1(NM_000166.6):c.178T>A (p.C60S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223885T>A" "" "VUS" "" "0000277111" "0" "50" "X" "70443735" "70443735" "subst" "0" "02330" "GJB1_001096" "g.70443735T>C" "" "" "" "GJB1(NM_000166.6):c.178T>C (p.C60R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223885T>C" "" "VUS" "" "0000277112" "0" "90" "X" "70443736" "70443736" "subst" "0" "02330" "GJB1_001097" "g.70443736G>T" "" "" "" "GJB1(NM_000166.6):c.179G>T (p.C60F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223886G>T" "" "pathogenic" "" "0000277113" "0" "90" "X" "70443744" "70443744" "subst" "0" "02330" "GJB1_001016" "g.70443744G>A" "" "" "" "GJB1(NM_000166.6):c.187G>A (p.V63I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223894G>A" "" "pathogenic" "" "0000277114" "0" "90" "X" "70443748" "70443748" "subst" "0" "02330" "GJB1_001098" "g.70443748G>C" "" "" "" "GJB1(NM_000166.6):c.191G>C (p.C64S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223898G>C" "" "pathogenic" "" "0000277115" "0" "90" "X" "70443748" "70443748" "subst" "0" "02330" "GJB1_001099" "g.70443748G>T" "" "" "" "GJB1(NM_000166.6):c.191G>T (p.C64F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223898G>T" "" "pathogenic" "" "0000277116" "0" "90" "X" "70443750" "70443750" "subst" "0" "02330" "GJB1_001100" "g.70443750T>C" "" "" "" "GJB1(NM_000166.6):c.193T>C (p.Y65H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223900T>C" "" "pathogenic" "" "0000277117" "0" "90" "X" "70443762" "70443762" "subst" "0" "02330" "GJB1_001102" "g.70443762T>C" "" "" "" "GJB1(NM_000166.6):c.205T>C (p.F69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223912T>C" "" "pathogenic" "" "0000277118" "0" "90" "X" "70443765" "70443765" "subst" "0" "02330" "GJB1_001103" "g.70443765C>G" "" "" "" "GJB1(NM_000166.6):c.208C>G (p.P70A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223915C>G" "" "pathogenic" "" "0000277119" "0" "50" "X" "70443765" "70443765" "subst" "0" "02330" "GJB1_001104" "g.70443765C>T" "" "" "" "GJB1(NM_000166.6):c.208C>T (p.P70S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223915C>T" "" "VUS" "" "0000277120" "0" "90" "X" "70443780" "70443780" "subst" "0" "02330" "GJB1_001017" "g.70443780C>T" "" "" "" "GJB1(NM_000166.6):c.223C>T (p.R75W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223930C>T" "" "pathogenic" "" "0000277121" "0" "90" "X" "70443781" "70443781" "subst" "0" "02330" "GJB1_001105" "g.70443781G>A" "" "" "" "GJB1(NM_000166.6):c.224G>A (p.R75Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223931G>A" "" "pathogenic" "" "0000277122" "0" "90" "X" "70443781" "70443781" "subst" "0" "02330" "GJB1_001106" "g.70443781G>C" "" "" "" "GJB1(NM_000166.6):c.224G>C (p.R75P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223931G>C" "" "pathogenic" "" "0000277123" "0" "90" "X" "70443787" "70443787" "subst" "0" "02330" "GJB1_001107" "g.70443787G>C" "" "" "" "GJB1(NM_000166.6):c.230G>C (p.W77S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223937G>C" "" "pathogenic" "" "0000277124" "0" "50" "X" "70443787" "70443787" "subst" "0" "02330" "GJB1_001108" "g.70443787G>T" "" "" "" "GJB1(NM_000166.6):c.230G>T (p.W77L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223937G>T" "" "VUS" "" "0000277125" "0" "90" "X" "70443788" "70443788" "subst" "0" "02330" "GJB1_001109" "g.70443788G>A" "" "" "" "GJB1(NM_000166.6):c.231G>A (p.W77*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223938G>A" "" "pathogenic" "" "0000277126" "0" "90" "X" "70443795" "70443795" "subst" "0" "02330" "GJB1_001110" "g.70443795C>T" "" "" "" "GJB1(NM_000166.6):c.238C>T (p.Q80*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223945C>T" "" "pathogenic" "" "0000277127" "0" "90" "X" "70443798" "70443798" "subst" "0" "02330" "GJB1_001112" "g.70443798C>T" "" "" "" "GJB1(NM_000166.6):c.241C>T (p.L81F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223948C>T" "" "pathogenic" "" "0000277128" "0" "50" "X" "70443799" "70443799" "subst" "0" "02330" "GJB1_001113" "g.70443799T>A" "" "" "" "GJB1(NM_000166.6):c.242T>A (p.L81H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223949T>A" "" "VUS" "" "0000277129" "0" "90" "X" "70443805" "70443805" "subst" "0" "02330" "GJB1_001114" "g.70443805T>C" "" "" "" "GJB1(NM_000166.6):c.248T>C (p.L83P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223955T>C" "" "pathogenic" "" "0000277130" "0" "90" "X" "70443805" "70443805" "subst" "0" "02330" "GJB1_001115" "g.70443805T>G" "" "" "" "GJB1(NM_000166.6):c.248T>G (p.L83R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223955T>G" "" "pathogenic" "" "0000277131" "0" "90" "X" "70443807" "70443807" "subst" "0" "02330" "GJB1_001116" "g.70443807G>A" "" "" "" "GJB1(NM_000166.6):c.250G>A (p.V84I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223957G>A" "" "pathogenic" "" "0000277132" "0" "90" "X" "70443811" "70443811" "subst" "0" "02330" "GJB1_001117" "g.70443811C>G" "" "" "" "GJB1(NM_000166.6):c.254C>G (p.S85C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223961C>G" "" "pathogenic" "" "0000277133" "0" "90" "X" "70443811" "70443811" "subst" "0" "02330" "GJB1_001118" "g.70443811C>T" "" "" "" "GJB1(NM_000166.6):c.254C>T (p.S85F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223961C>T" "" "pathogenic" "" "0000277134" "0" "90" "X" "70443816" "70443816" "subst" "0" "02330" "GJB1_001121" "g.70443816C>G" "" "" "" "GJB1(NM_000166.6):c.259C>G (p.P87A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223966C>G" "" "pathogenic" "" "0000277135" "0" "90" "X" "70443816" "70443816" "subst" "0" "02330" "GJB1_001122" "g.70443816C>T" "" "" "" "GJB1(NM_000166.6):c.259C>T (p.P87S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223966C>T" "" "pathogenic" "" "0000277136" "0" "90" "X" "70443817" "70443817" "subst" "0" "02330" "GJB1_001123" "g.70443817C>T" "" "" "" "GJB1(NM_000166.6):c.260C>T (p.P87L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223967C>T" "" "pathogenic" "" "0000277137" "0" "30" "X" "70443821" "70443821" "subst" "0" "02330" "GJB1_001124" "g.70443821T>A" "" "" "" "GJB1(NM_000166.6):c.264T>A (p.A88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223971T>A" "" "likely benign" "" "0000277138" "0" "70" "X" "70443822" "70443822" "subst" "0" "02330" "GJB1_001125" "g.70443822C>G" "" "" "" "GJB1(NM_000166.6):c.265C>G (p.L89V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223972C>G" "" "likely pathogenic" "" "0000277139" "0" "90" "X" "70443823" "70443823" "subst" "0" "02330" "GJB1_001126" "g.70443823T>C" "" "" "" "GJB1(NM_000166.6):c.266T>C (p.L89P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223973T>C" "" "pathogenic" "" "0000277140" "0" "90" "X" "70443825" "70443825" "subst" "0" "02330" "GJB1_001127" "g.70443825C>G" "" "" "" "GJB1(NM_000166.6):c.268C>G (p.L90V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223975C>G" "" "pathogenic" "" "0000277141" "0" "90" "X" "70443583" "70443583" "subst" "0" "02330" "GJB1_001033" "g.70443583T>G" "" "" "" "GJB1(NM_000166.6):c.26T>G (p.L9W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223733T>G" "" "pathogenic" "" "0000277142" "0" "90" "X" "70443828" "70443828" "subst" "0" "02330" "GJB1_001128" "g.70443828G>A" "" "" "" "GJB1(NM_000166.6):c.271G>A (p.V91M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223978G>A" "" "pathogenic" "" "0000277143" "0" "50" "X" "70443829" "70443829" "subst" "0" "02330" "GJB1_001129" "g.70443829T>C" "" "" "" "GJB1(NM_000166.6):c.272T>C (p.V91A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223979T>C" "" "VUS" "" "0000277144" "0" "90" "X" "70443584" "70443584" "subst" "0" "02330" "GJB1_001034" "g.70443584G>T" "" "" "" "GJB1(NM_000166.6):c.27G>T (p.L9F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223734G>T" "" "pathogenic" "" "0000277145" "0" "90" "X" "70443837" "70443837" "subst" "0" "02330" "GJB1_001131" "g.70443837C>G" "" "" "" "GJB1(NM_000166.6):c.280C>G (p.H94D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223987C>G" "" "pathogenic" "" "0000277146" "0" "90" "X" "70443837" "70443837" "subst" "0" "02330" "GJB1_001132" "g.70443837C>T" "" "" "" "GJB1(NM_000166.6):c.280C>T (p.H94Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223987C>T" "" "pathogenic" "" "0000277147" "0" "90" "X" "70443839" "70443839" "subst" "0" "02330" "GJB1_001133" "g.70443839C>A" "" "" "" "GJB1(NM_000166.6):c.282C>A (p.H94Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223989C>A" "" "pathogenic" "" "0000277148" "0" "90" "X" "70443840" "70443840" "subst" "0" "02330" "GJB1_001134" "g.70443840G>A" "" "" "" "GJB1(NM_000166.6):c.283G>A (p.V95M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223990G>A" "" "pathogenic" "" "0000277149" "0" "50" "X" "70443844" "70443844" "subst" "0" "02330" "GJB1_001135" "g.70443844C>T" "" "" "" "GJB1(NM_000166.6):c.287C>T (p.A96V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223994C>T" "" "VUS" "" "0000277150" "0" "90" "X" "70443855" "70443855" "subst" "0" "02330" "GJB1_001136" "g.70443855C>T" "" "" "" "GJB1(NM_000166.6):c.298C>T (p.H100Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224005C>T" "" "pathogenic" "" "0000277151" "0" "90" "X" "70443861" "70443861" "subst" "0" "02330" "GJB1_001137" "g.70443861G>T" "" "" "" "GJB1(NM_000166.6):c.304G>T (p.E102*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224011G>T" "" "pathogenic" "" "0000277152" "0" "90" "X" "70443865" "70443865" "dup" "0" "02330" "GJB1_001140" "g.70443865dup" "" "" "" "GJB1(NM_000166.6):c.308dupA (p.K104Efs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224015dup" "" "pathogenic" "" "0000277153" "0" "90" "X" "70443876" "70443876" "subst" "0" "02330" "GJB1_001142" "g.70443876C>T" "" "" "" "GJB1(NM_000166.6):c.319C>T (p.R107W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224026C>T" "" "pathogenic" "" "0000277154" "0" "90" "X" "70443880" "70443880" "subst" "0" "02330" "GJB1_001143" "g.70443880T>C" "" "" "" "GJB1(NM_000166.6):c.323T>C (p.L108P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224030T>C" "" "pathogenic" "" "0000277155" "0" "90" "X" "70443881" "70443881" "dup" "0" "02330" "GJB1_001144" "g.70443881dup" "" "" "" "GJB1(NM_000166.6):c.324dupT (p.E109*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224031dup" "" "pathogenic" "" "0000277156" "0" "90" "X" "70443886" "70443886" "subst" "0" "02330" "GJB1_001145" "g.70443886G>A" "" "" "" "GJB1(NM_000166.6):c.329G>A (p.G110D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224036G>A" "" "pathogenic" "" "0000277157" "0" "90" "X" "70443591" "70443591" "subst" "0" "02330" "GJB1_001035" "g.70443591G>A" "" "" "" "GJB1(NM_000166.6):c.34G>A (p.G12S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223741G>A" "" "pathogenic" "" "0000277158" "0" "90" "X" "70443916" "70443916" "subst" "0" "02330" "GJB1_001147" "g.70443916T>A" "" "" "" "GJB1(NM_000166.6):c.359T>A (p.V120E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224066T>A" "" "pathogenic" "" "0000277159" "0" "90" "X" "70443929" "70443929" "subst" "0" "02330" "GJB1_001148" "g.70443929G>C" "" "" "" "GJB1(NM_000166.6):c.372G>C (p.K124N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224079G>C" "" "pathogenic" "" "0000277160" "0" "90" "X" "70443594" "70443594" "subst" "6.17773E-5" "02330" "GJB1_001036" "g.70443594G>A" "" "" "" "GJB1(NM_000166.6):c.37G>A (p.V13M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223744G>A" "" "pathogenic" "" "0000277161" "0" "90" "X" "70443594" "70443594" "subst" "0" "02330" "GJB1_001037" "g.70443594G>T" "" "" "" "GJB1(NM_000166.6):c.37G>T (p.V13L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223744G>T" "" "pathogenic" "" "0000277162" "0" "90" "X" "70443937" "70443937" "subst" "0" "02330" "GJB1_001149" "g.70443937T>G" "" "" "" "GJB1(NM_000166.6):c.380T>G (p.I127S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224087T>G" "" "pathogenic" "" "0000277163" "0" "90" "X" "70443938" "70443938" "subst" "0" "02330" "GJB1_001150" "g.70443938C>G" "" "" "" "GJB1(NM_000166.6):c.381C>G (p.I127M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224088C>G" "" "pathogenic" "" "0000277164" "0" "90" "X" "70443940" "70443940" "subst" "0" "02330" "GJB1_001151" "g.70443940C>G" "" "" "" "GJB1(NM_000166.6):c.383C>G (p.S128*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224090C>G" "" "pathogenic" "" "0000277165" "0" "90" "X" "70443949" "70443949" "subst" "0" "02330" "GJB1_001152" "g.70443949T>C" "" "" "" "GJB1(NM_000166.6):c.392T>C (p.L131P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224099T>C" "" "pathogenic" "" "0000277166" "0" "90" "X" "70443953" "70443953" "subst" "0" "02330" "GJB1_001153" "g.70443953G>A" "" "" "" "GJB1(NM_000166.6):c.396G>A (p.W132*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224103G>A" "" "pathogenic" "" "0000277167" "0" "90" "X" "70443954" "70443954" "subst" "0" "02330" "GJB1_001154" "g.70443954T>C" "" "" "" "GJB1(NM_000166.6):c.397T>C (p.W133R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224104T>C" "" "pathogenic" "" "0000277168" "0" "90" "X" "70443956" "70443956" "subst" "0" "02330" "GJB1_001155" "g.70443956G>A" "" "" "" "GJB1(NM_000166.6):c.399G>A (p.W133*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224106G>A" "" "pathogenic" "" "0000277169" "0" "90" "X" "70443956" "70443956" "subst" "0" "02330" "GJB1_001156" "g.70443956G>T" "" "" "" "GJB1(NM_000166.6):c.399G>T (p.W133C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224106G>T" "" "pathogenic" "" "0000277170" "0" "50" "X" "70443958" "70443958" "subst" "0" "02330" "GJB1_001157" "g.70443958C>A" "" "" "" "GJB1(NM_000166.6):c.401C>A (p.T134N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224108C>A" "" "VUS" "" "0000277171" "0" "90" "X" "70443964" "70443964" "subst" "0" "02330" "GJB1_001159" "g.70443964T>C" "" "" "" "GJB1(NM_000166.6):c.407T>C (p.V136A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224114T>C" "" "pathogenic" "" "0000277172" "0" "90" "X" "70443970" "70443970" "subst" "0" "02330" "GJB1_001161" "g.70443970G>A" "" "" "" "GJB1(NM_000166.6):c.413G>A (p.S138N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224120G>A" "" "pathogenic" "" "0000277173" "0" "90" "X" "70443972" "70443972" "subst" "0" "02330" "GJB1_001162" "g.70443972G>A" "" "" "" "GJB1(NM_000166.6):c.415G>A (p.V139M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224122G>A" "" "pathogenic" "" "0000277174" "0" "90" "X" "70443976" "70443976" "subst" "0" "02330" "GJB1_001163" "g.70443976T>A" "" "" "" "GJB1(NM_000166.6):c.419T>A (p.V140E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224126T>A" "" "pathogenic" "" "0000277175" "0" "90" "X" "70443980" "70443980" "subst" "0" "02330" "GJB1_001164" "g.70443980C>G" "" "" "" "GJB1(NM_000166.6):c.423C>G (p.F141L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224130C>G" "" "pathogenic" "" "0000277176" "0" "90" "X" "70443981" "70443981" "subst" "0" "02330" "GJB1_001165" "g.70443981C>T" "" "" "" "GJB1(NM_000166.6):c.424C>T (p.R142W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224131C>T" "" "pathogenic" "" "0000277177" "0" "90" "X" "70443982" "70443982" "subst" "0" "02330" "GJB1_001166" "g.70443982G>A" "" "" "" "GJB1(NM_000166.6):c.425G>A (p.R142Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224132G>A" "" "pathogenic" "" "0000277178" "0" "90" "X" "70443985" "70443985" "subst" "0" "02330" "GJB1_001167" "g.70443985T>C" "" "" "" "GJB1(NM_000166.6):c.428T>C (p.L143P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224135T>C" "" "pathogenic" "" "0000277179" "0" "90" "X" "70443993" "70443993" "subst" "0" "02330" "GJB1_001168" "g.70443993G>A" "" "" "" "GJB1(NM_000166.6):c.436G>A (p.E146K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224143G>A" "" "pathogenic" "" "0000277180" "0" "90" "X" "70443600" "70443600" "subst" "0" "02330" "GJB1_001038" "g.70443600C>T" "" "" "" "GJB1(NM_000166.6):c.43C>T (p.R15W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223750C>T" "" "pathogenic" "" "0000277181" "0" "90" "X" "70443997" "70443997" "subst" "0" "02330" "GJB1_001169" "g.70443997C>A" "" "" "" "GJB1(NM_000166.6):c.440C>A (p.A147D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224147C>A" "" "pathogenic" "" "0000277182" "0" "90" "X" "70444002" "70444002" "subst" "0" "02330" "GJB1_001171" "g.70444002T>A" "" "" "" "GJB1(NM_000166.6):c.445T>A (p.F149I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224152T>A" "" "pathogenic" "" "0000277183" "0" "90" "X" "70444002" "70444002" "subst" "0" "02330" "GJB1_001172" "g.70444002T>G" "" "" "" "GJB1(NM_000166.6):c.445T>G (p.F149V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224152T>G" "" "pathogenic" "" "0000277184" "0" "90" "X" "70444008" "70444008" "subst" "0" "02330" "GJB1_001173" "g.70444008T>C" "" "" "" "GJB1(NM_000166.6):c.451T>C (p.Y151H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224158T>C" "" "pathogenic" "" "0000277185" "0" "90" "X" "70444012" "70444012" "subst" "0" "02330" "GJB1_001175" "g.70444012T>A" "" "" "" "GJB1(NM_000166.6):c.455T>A (p.V152D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224162T>A" "" "pathogenic" "" "0000277186" "0" "90" "X" "70444015" "70444015" "subst" "0" "02330" "GJB1_001176" "g.70444015T>C" "" "" "" "GJB1(NM_000166.6):c.458T>C (p.F153S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224165T>C" "" "pathogenic" "" "0000277187" "0" "90" "X" "70444019" "70444019" "subst" "0" "02330" "GJB1_001177" "g.70444019T>A" "" "" "" "GJB1(NM_000166.6):c.462T>A (p.Y154*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224169T>A" "" "pathogenic" "" "0000277188" "0" "90" "X" "70444023" "70444023" "subst" "0" "02330" "GJB1_001178" "g.70444023C>T" "" "" "" "GJB1(NM_000166.6):c.466C>T (p.L156F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224173C>T" "" "pathogenic" "" "0000277189" "0" "90" "X" "70444024" "70444024" "subst" "0" "02330" "GJB1_001179" "g.70444024T>G" "" "" "" "GJB1(NM_000166.6):c.467T>G (p.L156R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224174T>G" "" "pathogenic" "" "0000277190" "0" "90" "X" "70444029" "70444029" "subst" "0" "02330" "GJB1_001181" "g.70444029C>G" "" "" "" "GJB1(NM_000166.6):c.472C>G (p.P158A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224179C>G" "" "pathogenic" "" "0000277191" "0" "90" "X" "70444029" "70444029" "subst" "0" "02330" "GJB1_001182" "g.70444029C>T" "" "" "" "GJB1(NM_000166.6):c.472C>T (p.P158S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224179C>T" "" "pathogenic" "" "0000277192" "0" "90" "X" "70444030" "70444030" "subst" "0" "02330" "GJB1_001183" "g.70444030C>G" "" "" "" "GJB1(NM_000166.6):c.473C>G (p.P158R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224180C>G" "" "pathogenic" "" "0000277193" "0" "50" "X" "70444030" "70444030" "subst" "0" "02330" "GJB1_001184" "g.70444030C>T" "" "" "" "GJB1(NM_000166.6):c.473C>T (p.P158L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224180C>T" "" "VUS" "" "0000277194" "0" "90" "X" "70444032" "70444032" "subst" "0" "02330" "GJB1_001185" "g.70444032G>A" "" "" "" "GJB1(NM_000166.6):c.475G>A (p.G159S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224182G>A" "" "pathogenic" "" "0000277195" "0" "90" "X" "70444033" "70444033" "subst" "0" "02330" "GJB1_001186" "g.70444033G>A" "" "" "" "GJB1(NM_000166.6):c.476G>A (p.G159D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224183G>A" "" "pathogenic" "" "0000277196" "0" "90" "X" "70444035" "70444035" "subst" "0" "02330" "GJB1_001187" "g.70444035T>C" "" "" "" "GJB1(NM_000166.6):c.478T>C (p.Y160H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224185T>C" "" "pathogenic" "" "0000277197" "0" "90" "X" "70444038" "70444038" "subst" "0" "02330" "GJB1_001188" "g.70444038G>C" "" "" "" "GJB1(NM_000166.6):c.481G>C (p.A161P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224188G>C" "" "pathogenic" "" "0000277198" "0" "90" "X" "70444047" "70444047" "subst" "0" "02330" "GJB1_001020" "g.70444047C>T" "" "" "" "GJB1(NM_000166.6):c.490C>T (p.R164W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224197C>T" "" "pathogenic" "" "0000277199" "0" "90" "X" "70444048" "70444048" "subst" "5.99089E-6" "02330" "GJB1_001010" "g.70444048G>A" "" "" "" "GJB1(NM_000166.6):c.491G>A (p.R164Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224198G>A" "" "pathogenic" "" "0000277200" "0" "90" "X" "70444059" "70444059" "subst" "0" "02330" "GJB1_001190" "g.70444059T>C" "" "" "" "GJB1(NM_000166.6):c.502T>C (p.C168R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224209T>C" "" "pathogenic" "" "0000277201" "0" "90" "X" "70444060" "70444060" "subst" "0" "02330" "GJB1_001191" "g.70444060G>A" "" "" "" "GJB1(NM_000166.6):c.503G>A (p.C168Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224210G>A" "" "pathogenic" "" "0000277202" "0" "50" "X" "70444061" "70444061" "subst" "0" "02330" "GJB1_001192" "g.70444061C>A" "" "" "" "GJB1(NM_000166.6):c.504C>A (p.C168*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224211C>A" "" "VUS" "" "0000277203" "0" "90" "X" "70444071" "70444071" "subst" "0" "02330" "GJB1_001193" "g.70444071C>G" "" "" "" "GJB1(NM_000166.6):c.514C>G (p.P172A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224221C>G" "" "pathogenic" "" "0000277204" "0" "90" "X" "70444071" "70444071" "subst" "5.82476E-6" "02330" "GJB1_001194" "g.70444071C>T" "" "" "" "GJB1(NM_000166.6):c.514C>T (p.P172S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224221C>T" "" "pathogenic" "" "0000277205" "0" "90" "X" "70444072" "70444072" "subst" "0" "02330" "GJB1_001195" "g.70444072C>G" "" "" "" "GJB1(NM_000166.6):c.515C>G (p.P172R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224222C>G" "" "pathogenic" "" "0000277206" "0" "90" "X" "70444072" "70444072" "subst" "0" "02330" "GJB1_001196" "g.70444072C>T" "" "" "" "GJB1(NM_000166.6):c.515C>T (p.P172L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224222C>T" "" "pathogenic" "" "0000277207" "0" "90" "X" "70444074" "70444074" "subst" "0" "02330" "GJB1_001197" "g.70444074T>C" "" "" "" "GJB1(NM_000166.6):c.517T>C (p.C173R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224224T>C" "" "pathogenic" "" "0000277208" "0" "50" "X" "70444075" "70444075" "subst" "0" "02330" "GJB1_001198" "g.70444075G>A" "" "" "" "GJB1(NM_000166.6):c.518G>A (p.C173Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224225G>A" "" "VUS" "" "0000277209" "0" "90" "X" "70444081" "70444081" "dup" "0" "02330" "GJB1_001200" "g.70444081dup" "" "" "" "GJB1(NM_000166.6):c.524dupA (p.N175Kfs*68)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224231dup" "" "pathogenic" "" "0000277210" "0" "70" "X" "70444087" "70444087" "subst" "0" "02330" "GJB1_001201" "g.70444087T>A" "" "" "" "GJB1(NM_000166.6):c.530T>A (p.V177E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224237T>A" "" "likely pathogenic" "" "0000277211" "0" "70" "X" "70444087" "70444087" "subst" "0" "02330" "GJB1_001202" "g.70444087T>C" "" "" "" "GJB1(NM_000166.6):c.530T>C (p.V177A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224237T>C" "" "likely pathogenic" "" "0000277212" "0" "90" "X" "70444089" "70444089" "subst" "0" "02330" "GJB1_001203" "g.70444089G>T" "" "" "" "GJB1(NM_000166.6):c.532G>T (p.D178Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224239G>T" "" "pathogenic" "" "0000277213" "0" "90" "X" "70444092" "70444092" "subst" "0" "02330" "GJB1_001204" "g.70444092T>C" "" "" "" "GJB1(NM_000166.6):c.535T>C (p.C179R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224242T>C" "" "pathogenic" "" "0000277214" "0" "90" "X" "70444093" "70444093" "subst" "0" "02330" "GJB1_001205" "g.70444093G>A" "" "" "" "GJB1(NM_000166.6):c.536G>A (p.C179Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224243G>A" "" "pathogenic" "" "0000277215" "0" "90" "X" "70444095" "70444095" "subst" "0" "02330" "GJB1_001206" "g.70444095T>C" "" "" "" "GJB1(NM_000166.6):c.538T>C (p.F180L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224245T>C" "" "pathogenic" "" "0000277216" "0" "90" "X" "70444096" "70444096" "subst" "0" "02330" "GJB1_001207" "g.70444096T>C" "" "" "" "GJB1(NM_000166.6):c.539T>C (p.F180S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224246T>C" "" "pathogenic" "" "0000277217" "0" "90" "X" "70444097" "70444097" "subst" "0" "02330" "GJB1_001208" "g.70444097C>G" "" "" "" "GJB1(NM_000166.6):c.540C>G (p.F180L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224247C>G" "" "pathogenic" "" "0000277218" "0" "90" "X" "70444098" "70444098" "subst" "0" "02330" "GJB1_001006" "g.70444098G>A" "" "" "" "GJB1(NM_000166.6):c.541G>A (p.V181M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224248G>A" "" "pathogenic" "" "0000277219" "0" "90" "X" "70444101" "70444101" "subst" "0" "02330" "GJB1_001209" "g.70444101T>A" "" "" "" "GJB1(NM_000166.6):c.544T>A (p.S182T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224251T>A" "" "pathogenic" "" "0000277220" "0" "90" "X" "70444104" "70444104" "subst" "0" "02330" "GJB1_001210" "g.70444104C>A" "" "" "" "GJB1(NM_000166.6):c.547C>A (p.R183S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224254C>A" "" "pathogenic" "" "0000277221" "0" "90" "X" "70444104" "70444104" "subst" "0" "02330" "GJB1_001211" "g.70444104C>T" "" "" "" "GJB1(NM_000166.6):c.547C>T (p.R183C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224254C>T" "" "pathogenic" "" "0000277222" "0" "90" "X" "70444105" "70444105" "subst" "0" "02330" "GJB1_001212" "g.70444105G>A" "" "" "" "GJB1(NM_000166.6):c.548G>A (p.R183H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224255G>A" "" "pathogenic" "" "0000277223" "0" "90" "X" "70444108" "70444108" "subst" "0" "02330" "GJB1_001213" "g.70444108C>G" "" "" "" "GJB1(NM_000166.6):c.551C>G (p.P184R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224258C>G" "" "pathogenic" "" "0000277224" "0" "90" "X" "70444108" "70444108" "subst" "0" "02330" "GJB1_001214" "g.70444108C>T" "" "" "" "GJB1(NM_000166.6):c.551C>T (p.P184L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224258C>T" "" "pathogenic" "" "0000277225" "0" "90" "X" "70444113" "70444113" "dup" "0" "02330" "GJB1_001215" "g.70444113dup" "" "" "" "GJB1(NM_000166.6):c.556dupG (p.E186Gfs*57)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224263dup" "" "pathogenic" "" "0000277226" "0" "90" "X" "70444113" "70444113" "subst" "0" "02330" "GJB1_001216" "g.70444113G>A" "" "" "" "GJB1(NM_000166.6):c.556G>A (p.E186K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224263G>A" "" "pathogenic" "" "0000277227" "0" "90" "X" "70444113" "70444113" "subst" "0" "02330" "GJB1_001217" "g.70444113G>T" "" "" "" "GJB1(NM_000166.6):c.556G>T (p.E186*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224263G>T" "" "pathogenic" "" "0000277229" "0" "90" "X" "70444122" "70444122" "subst" "1.13614E-5" "02330" "GJB1_001220" "g.70444122G>A" "" "" "" "GJB1(NM_000166.6):c.565G>A (p.V189I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224272G>A" "" "pathogenic" "" "0000277230" "0" "90" "X" "70444123" "70444123" "subst" "0" "02330" "GJB1_001221" "g.70444123T>G" "" "" "" "GJB1(NM_000166.6):c.566T>G (p.V189G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224273T>G" "" "pathogenic" "" "0000277231" "0" "70" "X" "70444131" "70444131" "subst" "5.66681E-6" "02330" "GJB1_001223" "g.70444131G>T" "" "" "" "GJB1(NM_000166.6):c.574G>T (p.V192F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224281G>T" "" "likely pathogenic" "" "0000277232" "0" "90" "X" "70444135" "70444135" "subst" "0" "02330" "GJB1_001224" "g.70444135T>G" "" "" "" "GJB1(NM_000166.6):c.578T>G (p.F193C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224285T>G" "" "pathogenic" "" "0000277233" "0" "90" "X" "70444136" "70444136" "subst" "0" "02330" "GJB1_001225" "g.70444136C>G" "" "" "" "GJB1(NM_000166.6):c.579C>G (p.F193L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224286C>G" "" "pathogenic" "" "0000277234" "0" "90" "X" "70444150" "70444150" "subst" "0" "02330" "GJB1_001227" "g.70444150C>T" "" "" "" "GJB1(NM_000166.6):c.593C>T (p.S198F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224300C>T" "" "pathogenic" "" "0000277235" "0" "90" "X" "70444152" "70444152" "subst" "0" "02330" "GJB1_001228" "g.70444152G>C" "" "" "" "GJB1(NM_000166.6):c.595G>C (p.G199R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224302G>C" "" "pathogenic" "" "0000277236" "0" "90" "X" "70443616" "70443616" "subst" "0" "02330" "GJB1_001040" "g.70443616T>A" "" "" "" "GJB1(NM_000166.6):c.59T>A (p.I20N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223766T>A" "" "pathogenic" "" "0000277237" "0" "90" "X" "70443616" "70443616" "subst" "0" "02330" "GJB1_001041" "g.70443616T>G" "" "" "" "GJB1(NM_000166.6):c.59T>G (p.I20S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223766T>G" "" "pathogenic" "" "0000277238" "0" "90" "X" "70444158" "70444158" "subst" "0" "02330" "GJB1_001229" "g.70444158T>C" "" "" "" "GJB1(NM_000166.6):c.601T>C (p.C201R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224308T>C" "" "pathogenic" "" "0000277239" "0" "90" "X" "70444159" "70444159" "subst" "0" "02330" "GJB1_001230" "g.70444159G>A" "" "" "" "GJB1(NM_000166.6):c.602G>A (p.C201Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224309G>A" "" "pathogenic" "" "0000277240" "0" "90" "X" "70444159" "70444159" "subst" "0" "02330" "GJB1_001231" "g.70444159G>T" "" "" "" "GJB1(NM_000166.6):c.602G>T (p.C201F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224309G>T" "" "pathogenic" "" "0000277241" "0" "90" "X" "70444165" "70444165" "subst" "0" "02330" "GJB1_001232" "g.70444165T>A" "" "" "" "GJB1(NM_000166.6):c.608T>A (p.I203N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224315T>A" "" "pathogenic" "" "0000277242" "0" "90" "X" "70444167" "70444167" "subst" "0" "02330" "GJB1_001233" "g.70444167C>G" "" "" "" "GJB1(NM_000166.6):c.610C>G (p.L204V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224317C>G" "" "pathogenic" "" "0000277243" "0" "90" "X" "70444167" "70444167" "subst" "0" "02330" "GJB1_001234" "g.70444167C>T" "" "" "" "GJB1(NM_000166.6):c.610C>T (p.L204F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224317C>T" "" "pathogenic" "" "0000277244" "0" "90" "X" "70444174" "70444174" "dup" "0" "02330" "GJB1_001237" "g.70444174dup" "" "" "" "GJB1(NM_000166.6):c.617dupT (p.A207Gfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224324dup" "" "pathogenic" "" "0000277245" "0" "90" "X" "70443618" "70443618" "subst" "0" "02330" "GJB1_001042" "g.70443618G>A" "" "" "" "GJB1(NM_000166.6):c.61G>A (p.G21S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223768G>A" "" "pathogenic" "" "0000277246" "0" "90" "X" "70444179" "70444179" "subst" "0" "02330" "GJB1_001238" "g.70444179G>A" "" "" "" "GJB1(NM_000166.6):c.622G>A (p.E208K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224329G>A" "" "pathogenic" "" "0000277247" "0" "30" "X" "70444184" "70444184" "subst" "1.70031E-5" "02330" "GJB1_001240" "g.70444184G>T" "" "" "" "GJB1(NM_000166.6):c.627G>T (p.V209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224334G>T" "" "likely benign" "" "0000277248" "0" "90" "X" "70443619" "70443619" "subst" "0" "02330" "GJB1_001043" "g.70443619G>A" "" "" "" "GJB1(NM_000166.6):c.62G>A (p.G21D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223769G>A" "" "pathogenic" "" "0000277249" "0" "90" "X" "70444188" "70444188" "subst" "0" "02330" "GJB1_001241" "g.70444188T>C" "" "" "" "GJB1(NM_000166.6):c.631T>C (p.Y211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224338T>C" "" "pathogenic" "" "0000277250" "0" "90" "X" "70444190" "70444190" "subst" "0" "02330" "GJB1_001242" "g.70444190C>A" "" "" "" "GJB1(NM_000166.6):c.633C>A (p.Y211*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224340C>A" "" "pathogenic" "" "0000277251" "0" "90" "X" "70444191" "70444191" "subst" "0" "02330" "GJB1_001243" "g.70444191C>T" "" "" "" "GJB1(NM_000166.6):c.634C>T (p.L212F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224341C>T" "" "pathogenic" "" "0000277252" "0" "90" "X" "70444198" "70444198" "subst" "0" "02330" "GJB1_001245" "g.70444198T>A" "" "" "" "GJB1(NM_000166.6):c.641T>A (p.I214N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224348T>A" "" "pathogenic" "" "0000277253" "0" "90" "X" "70444200" "70444200" "subst" "0" "02330" "GJB1_001002" "g.70444200C>T" "" "" "" "GJB1(NM_000166.6):c.643C>T (p.R215W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224350C>T" "" "pathogenic" "" "0000277254" "0" "90" "X" "70443621" "70443621" "subst" "0" "02330" "GJB1_001044" "g.70443621C>G" "" "" "" "GJB1(NM_000166.6):c.64C>G (p.R22G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223771C>G" "" "pathogenic" "" "0000277255" "0" "90" "X" "70443621" "70443621" "subst" "0" "02330" "GJB1_001013" "g.70443621C>T" "" "" "" "GJB1(NM_000166.6):c.64C>T (p.R22*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223771C>T" "" "pathogenic" "" "0000277256" "0" "90" "X" "70444208" "70444208" "subst" "0" "02330" "GJB1_001246" "g.70444208T>A" "" "" "" "GJB1(NM_000166.6):c.651T>A (p.C217*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224358T>A" "" "pathogenic" "" "0000277257" "0" "90" "X" "70444212" "70444212" "subst" "0" "02330" "GJB1_001247" "g.70444212C>T" "" "" "" "GJB1(NM_000166.6):c.655C>T (p.R219C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224362C>T" "" "pathogenic" "" "0000277258" "0" "90" "X" "70444213" "70444213" "subst" "0" "02330" "GJB1_001248" "g.70444213G>A" "" "" "" "GJB1(NM_000166.6):c.656G>A (p.R219H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224363G>A" "" "pathogenic" "" "0000277259" "0" "90" "X" "70444215" "70444215" "subst" "0" "02330" "GJB1_001249" "g.70444215C>G" "" "" "" "GJB1(NM_000166.6):c.658C>G (p.R220G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224365C>G" "" "pathogenic" "" "0000277260" "0" "90" "X" "70444215" "70444215" "subst" "0" "02330" "GJB1_001250" "g.70444215C>T" "" "" "" "GJB1(NM_000166.6):c.658C>T (p.R220*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224365C>T" "" "pathogenic" "" "0000277261" "0" "90" "X" "70443622" "70443622" "subst" "0" "02330" "GJB1_001045" "g.70443622G>A" "" "" "" "GJB1(NM_000166.6):c.65G>A (p.R22Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223772G>A" "" "pathogenic" "" "0000277262" "0" "90" "X" "70443622" "70443622" "subst" "0" "02330" "GJB1_001046" "g.70443622G>C" "" "" "" "GJB1(NM_000166.6):c.65G>C (p.R22P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223772G>C" "" "pathogenic" "" "0000277263" "0" "90" "X" "70444245" "70444245" "subst" "0.000120105" "02330" "GJB1_001251" "g.70444245C>T" "" "" "" "GJB1(NM_000166.6):c.688C>T (p.R230C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224395C>T" "" "pathogenic" "" "0000277264" "0" "90" "X" "70443625" "70443625" "subst" "0" "02330" "GJB1_001047" "g.70443625T>A" "" "" "" "GJB1(NM_000166.6):c.68T>A (p.V23E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223775T>A" "" "pathogenic" "" "0000277265" "0" "90" "X" "70443625" "70443625" "subst" "0" "02330" "GJB1_001048" "g.70443625T>C" "" "" "" "GJB1(NM_000166.6):c.68T>C (p.V23A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223775T>C" "" "pathogenic" "" "0000277266" "0" "30" "X" "70444261" "70444261" "subst" "0.000699062" "02330" "GJB1_001252" "g.70444261T>G" "" "" "" "GJB1(NM_000166.6):c.704T>G (p.F235C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224411T>G" "" "likely benign" "" "0000277268" "0" "90" "X" "70444272" "70444272" "subst" "0" "02330" "GJB1_001254" "g.70444272C>A" "" "" "" "GJB1(NM_000166.6):c.715C>A (p.L239I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224422C>A" "" "pathogenic" "" "0000277269" "0" "90" "X" "70443629" "70443629" "subst" "0" "02330" "GJB1_001049" "g.70443629G>T" "" "" "" "GJB1(NM_000166.6):c.72G>T (p.W24C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223779G>T" "" "pathogenic" "" "0000277270" "0" "90" "X" "70443630" "70443630" "subst" "0" "02330" "GJB1_001050" "g.70443630C>T" "" "" "" "GJB1(NM_000166.6):c.73C>T (p.L25F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223780C>T" "" "pathogenic" "" "0000277271" "0" "90" "X" "70443631" "70443631" "subst" "0" "02330" "GJB1_001051" "g.70443631T>C" "" "" "" "GJB1(NM_000166.6):c.74T>C (p.L25P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223781T>C" "" "pathogenic" "" "0000277272" "0" "90" "X" "70444318" "70444318" "dup" "0" "02330" "GJB1_001255" "g.70444318dup" "" "" "" "GJB1(NM_000166.6):c.761dupA (p.Q255Afs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224468dup" "" "pathogenic" "" "0000277273" "0" "90" "X" "70443634" "70443634" "subst" "0" "02330" "GJB1_001052" "g.70443634C>A" "" "" "" "GJB1(NM_000166.6):c.77C>A (p.S26*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223784C>A" "" "pathogenic" "" "0000277274" "0" "90" "X" "70443634" "70443634" "subst" "0" "02330" "GJB1_001053" "g.70443634C>G" "" "" "" "GJB1(NM_000166.6):c.77C>G (p.S26W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223784C>G" "" "pathogenic" "" "0000277275" "0" "90" "X" "70443634" "70443634" "subst" "0" "02330" "GJB1_001054" "g.70443634C>T" "" "" "" "GJB1(NM_000166.6):c.77C>T (p.S26L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223784C>T" "" "pathogenic" "" "0000277276" "0" "90" "X" "70444347" "70444347" "subst" "5.8556E-5" "02330" "GJB1_001256" "g.70444347C>T" "" "" "" "GJB1(NM_000166.6):c.790C>T (p.R264C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224497C>T" "" "pathogenic" "" "0000277277" "0" "90" "X" "70443564" "70443564" "subst" "0" "02330" "GJB1_001021" "g.70443564T>C" "" "" "" "GJB1(NM_000166.6):c.7T>C (p.W3R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223714T>C" "" "pathogenic" "" "0000277278" "0" "90" "X" "70444395" "70444395" "subst" "0" "02330" "GJB1_001259" "g.70444395T>G" "" "" "" "GJB1(NM_000166.6):c.838T>G (p.C280G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224545T>G" "" "pathogenic" "" "0000277279" "0" "90" "X" "70443640" "70443640" "subst" "5.59888E-6" "02330" "GJB1_001055" "g.70443640T>A" "" "" "" "GJB1(NM_000166.6):c.83T>A (p.I28N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223790T>A" "" "pathogenic" "" "0000277280" "0" "90" "X" "70444399" "70444399" "subst" "0" "02330" "GJB1_001260" "g.70444399C>A" "" "" "" "GJB1(NM_000166.6):c.842C>A (p.S281*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224549C>A" "" "pathogenic" "" "0000277281" "0" "90" "X" "70443642" "70443642" "subst" "0" "02330" "GJB1_001056" "g.70443642T>C" "" "" "" "GJB1(NM_000166.6):c.85T>C (p.F29L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223792T>C" "" "pathogenic" "" "0000277283" "0" "90" "X" "70443646" "70443646" "subst" "0" "02330" "GJB1_001059" "g.70443646T>A" "" "" "" "GJB1(NM_000166.6):c.89T>A (p.I30N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223796T>A" "" "pathogenic" "" "0000277284" "0" "90" "X" "70443646" "70443646" "subst" "0" "02330" "GJB1_001060" "g.70443646T>C" "" "" "" "GJB1(NM_000166.6):c.89T>C (p.I30T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223796T>C" "" "pathogenic" "" "0000277285" "0" "90" "X" "70443565" "70443565" "subst" "0" "02330" "GJB1_001030" "g.70443565G>C" "" "" "" "GJB1(NM_000166.6):c.8G>C (p.W3S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223715G>C" "" "pathogenic" "" "0000277286" "0" "50" "X" "70443647" "70443647" "subst" "0" "02330" "GJB1_001061" "g.70443647C>G" "" "" "" "GJB1(NM_000166.6):c.90C>G (p.I30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223797C>G" "" "VUS" "" "0000277287" "0" "90" "X" "70443566" "70443566" "subst" "0" "02330" "GJB1_001031" "g.70443566G>A" "" "" "" "GJB1(NM_000166.6):c.9G>A (p.W3*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71223716G>A" "" "pathogenic" "" "0000283369" "0" "70" "X" "70444368" "70444368" "subst" "0" "02329" "GJB1_001257" "g.70444368G>T" "" "" "" "GJB1(NM_000166.6):c.811G>T (p.A271S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224518G>T" "" "likely pathogenic" "" "0000288348" "0" "30" "X" "70443999" "70443999" "subst" "6.11385E-5" "01943" "GJB1_001170" "g.70443999G>A" "" "" "" "GJB1(NM_000166.5):c.442G>A (p.V148I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71224149G>A" "" "likely benign" "" "0000436208" "0" "90" "X" "70443657" "70443657" "subst" "0" "00006" "GJB1_000004" "g.70443657A>G" "" "{PMID:Latour 1997:09018031}" "" "" "" "Germline" "" "" "0" "" "" "g.71223807A>G" "" "pathogenic" "" "0000436209" "0" "90" "X" "70443658" "70443658" "subst" "0" "00006" "GJB1_000005" "g.70443658T>A" "" "{PMID:Mersiyanova 2000:10737979}" "" "" "" "Germline" "" "" "0" "" "" "g.71223808T>A" "" "pathogenic" "" "0000436210" "0" "90" "X" "70443658" "70443658" "subst" "0" "00006" "GJB1_000006" "g.70443658T>C" "" "{PMID:Tan 1996:08829637}" "" "" "" "Germline" "" "" "0" "" "" "g.71223808T>C" "" "pathogenic" "" "0000436211" "0" "90" "X" "70443660" "70443660" "subst" "0" "00006" "GJB1_000007" "g.70443660G>A" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223810G>A" "" "pathogenic" "" "0000436212" "0" "90" "X" "70443664" "70443664" "subst" "0" "00006" "GJB1_000008" "g.70443664T>C" "" "{PMID:Mandich 2008:18379723}" "" "" "" "Germline" "" "" "0" "" "" "g.71223814T>C" "" "pathogenic" "" "0000436213" "0" "90" "X" "70443666" "70443666" "subst" "0" "00006" "GJB1_000009" "g.70443666G>A" "" "{PMID:Ikegami 1998:09856562}" "" "" "" "Germline" "" "" "0" "" "" "g.71223816G>A" "" "pathogenic" "" "0000436214" "0" "90" "X" "70443666" "70443666" "subst" "0" "00006" "GJB1_000010" "g.70443666G>T" "" "{PMID:Karadima 2006:16096811}" "" "" "" "Germline" "" "" "0" "" "" "g.71223816G>T" "" "pathogenic" "" "0000436215" "0" "90" "X" "70443667" "70443667" "del" "0" "00006" "GJB1_000011" "g.70443667del" "" "{PMID:Lin 2010:21104867}" "" "110delT" "" "Germline" "" "" "0" "" "" "g.71223817del" "" "pathogenic" "" "0000436216" "0" "90" "X" "70443669" "70443669" "subst" "0" "00006" "GJB1_000012" "g.70443669G>A" "" "{PMID:Orth 1994:07833935}" "" "" "" "Germline" "" "" "0" "" "" "g.71223819G>A" "" "pathogenic" "" "0000436217" "0" "90" "X" "70443670" "70443670" "subst" "0" "00006" "GJB1_000013" "g.70443670T>C" "" "{PMID:Karadima 2004:14991359}" "" "" "" "Germline" "" "" "0" "" "" "g.71223820T>C" "" "pathogenic" "" "0000436218" "0" "90" "X" "70443672" "70443672" "subst" "0" "00006" "GJB1_000014" "g.70443672G>C" "" "{PMID:Ekici 2000:11085599}" "" "" "" "Germline" "" "" "0" "" "" "g.71223822G>C" "" "pathogenic" "" "0000436219" "0" "90" "X" "70443673" "70443673" "subst" "0" "00006" "GJB1_000015" "g.70443673C>G" "" "{PMID:Houlden 2009:18636082}" "" "" "" "Germline" "" "" "0" "" "" "g.71223823C>G" "" "pathogenic" "" "0000436220" "0" "90" "X" "70443673" "70443673" "subst" "0" "00006" "GJB1_000016" "g.70443673C>T" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.71223823C>T" "" "pathogenic" "" "0000436221" "0" "90" "X" "70443673" "70443673" "del" "0" "00006" "GJB1_000017" "g.70443673del" "" "{PMID:Casasnovas 2006:17100997}" "" "116delC" "" "Germline" "" "" "0" "" "" "g.71223823del" "" "pathogenic" "" "0000436222" "0" "90" "X" "70443675" "70443675" "subst" "0" "00006" "GJB1_000018" "g.70443675G>A" "" "{PMID:Ma 2002:12536289}" "" "" "" "Germline" "" "" "0" "" "" "g.71223825G>A" "" "pathogenic" "" "0000436223" "0" "90" "X" "70443676" "70443676" "subst" "0" "00006" "GJB1_000019" "g.70443676C>T" "" "{PMID:Nelis 1996:08800924}" "" "" "" "Germline" "" "" "0" "" "" "g.71223826C>T" "" "pathogenic" "" "0000436224" "0" "90" "X" "70443568" "70443568" "subst" "0" "00006" "GJB1_000020" "g.70443568C>A" "" "{PMID:Miltenberger-Miltenyi 2009:19259128}" "" "" "" "Germline" "" "" "0" "" "" "g.71223718C>A" "" "pathogenic" "" "0000436225" "0" "90" "X" "70443678" "70443678" "subst" "0" "00006" "GJB1_000021" "g.70443678G>A" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223828G>A" "" "pathogenic" "" "0000436226" "0" "90" "X" "70443680" "70443680" "subst" "0" "00006" "GJB1_000022" "g.70443680G>C" "" "{PMID:Murru 2006:16688595}" "" "" "" "Germline" "" "" "0" "" "" "g.71223830G>C" "" "pathogenic" "" "0000436227" "0" "90" "X" "70443681" "70443681" "subst" "0" "00006" "GJB1_000023" "g.70443681A>T" "" "{PMID:Abe 2011:21326314}" "" "" "" "Germline" "" "" "0" "" "" "g.71223831A>T" "" "pathogenic" "" "0000436228" "0" "90" "X" "70443684" "70443684" "subst" "0" "00006" "GJB1_000024" "g.70443684G>A" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.71223834G>A" "" "pathogenic" "" "0000436229" "0" "90" "X" "70443688" "70443688" "subst" "0" "00006" "GJB1_000025" "g.70443688G>T" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223838G>T" "" "pathogenic" "" "0000436230" "0" "90" "X" "70443689" "70443689" "subst" "0" "00006" "GJB1_000026" "g.70443689G>A" "" "{PMID:Felice 2000:10894999}" "" "" "" "Germline" "" "" "0" "" "" "g.71223839G>A" "" "pathogenic" "" "0000436231" "0" "90" "X" "70443694" "70443694" "subst" "0" "00006" "GJB1_000027" "g.70443694A>G" "" "{PMID:Park 2006:16922730}" "" "" "" "Germline" "" "" "0" "" "" "g.71223844A>G" "" "pathogenic" "" "0000436232" "0" "90" "X" "70443697" "70443697" "subst" "0" "00006" "GJB1_000028" "g.70443697A>G" "" "{PMID:Casasnovas 2006:17100997}" "" "" "" "Germline" "" "" "0" "" "" "g.71223847A>G" "" "pathogenic" "" "0000436233" "0" "90" "X" "70443702" "70443702" "subst" "0" "00006" "GJB1_000029" "g.70443702T>C" "" "{PMID:Street 2002:12207932}" "" "" "" "Germline" "" "" "0" "" "" "g.71223852T>C" "" "pathogenic" "" "0000436234" "0" "90" "X" "70443703" "70443703" "subst" "0" "00006" "GJB1_000030" "g.70443703C>A" "" "{PMID:Timmerman 1996:08628473}" "" "" "" "Germline" "" "" "0" "" "" "g.71223853C>A" "" "pathogenic" "" "0000436235" "0" "90" "X" "70443705" "70443705" "subst" "0" "00006" "GJB1_000031" "g.70443705T>C" "" "{PMID:Latour 1997:10732813}" "" "" "" "Germline" "" "" "0" "" "" "g.71223855T>C" "" "pathogenic" "" "0000436236" "0" "90" "X" "70443712" "70443712" "del" "0" "00006" "GJB1_000032" "g.70443712del" "" "{PMID:Miltenberger-Miltenyi 2009:19259128}" "" "155delT" "" "Germline" "" "" "0" "" "" "g.71223862del" "" "pathogenic" "" "0000436237" "0" "90" "X" "70443714" "70443714" "subst" "0" "00006" "GJB1_000033" "g.70443714T>A" "" "{PMID:Casasnovas 2006:17100997}" "" "" "" "Germline" "" "" "0" "" "" "g.71223864T>A" "" "pathogenic" "" "0000436238" "0" "90" "X" "70443715" "70443715" "subst" "0" "00006" "GJB1_000034" "g.70443715G>C" "" "{PMID:Yoshimura 1996:08889588}" "" "" "" "Germline" "" "" "0" "" "" "g.71223865G>C" "" "pathogenic" "" "0000436239" "0" "90" "X" "70443717" "70443717" "subst" "0" "00006" "GJB1_000035" "g.70443717A>C" "" "{PMID:Siskind 2009:19193385}" "" "" "" "Germline" "" "" "0" "" "" "g.71223867A>C" "" "pathogenic" "" "0000436240" "0" "90" "X" "70443720" "70443720" "subst" "0" "00006" "GJB1_000036" "g.70443720A>G" "" "{PMID:Hattori 2003:12477701}" "" "" "" "Germline" "" "" "0" "" "" "g.71223870A>G" "" "pathogenic" "" "0000436241" "0" "90" "X" "70443721" "70443721" "subst" "0" "00006" "GJB1_000037" "g.70443721C>G" "" "{PMID:Lee 2002:12185164}" "" "" "" "Germline" "" "" "0" "" "" "g.71223871C>G" "" "pathogenic" "" "0000436242" "0" "90" "X" "70443721" "70443721" "subst" "0" "00006" "GJB1_000038" "g.70443721C>T" "" "{PMID:Karadimas 1999:10220155}" "" "" "" "Germline" "" "" "0" "" "" "g.71223871C>T" "" "pathogenic" "" "0000436243" "0" "90" "X" "70443723" "70443723" "subst" "0" "00006" "GJB1_000039" "g.70443723C>T" "" "{PMID:Latour 1997:09018031}" "" "" "" "Germline" "" "" "0" "" "" "g.71223873C>T" "" "pathogenic" "" "0000436244" "0" "90" "X" "70443728" "70443728" "subst" "0" "00006" "GJB1_000040" "g.70443728G>C" "" "{PMID:Ikegami 1998:09856562}" "" "" "" "Germline" "" "" "0" "" "" "g.71223878G>C" "" "pathogenic" "" "0000436245" "0" "90" "X" "70443730" "70443730" "subst" "0" "00006" "GJB1_000041" "g.70443730C>G" "" "{PMID:Silander 1998:09633821}" "" "" "" "Germline" "" "" "0" "" "" "g.71223880C>G" "" "pathogenic" "" "0000436246" "0" "90" "X" "70443732" "70443732" "subst" "0" "00006" "GJB1_000042" "g.70443732G>C" "" "{PMID:Felice 2000:10894999}" "" "" "" "Germline" "" "" "0" "" "" "g.71223882G>C" "" "pathogenic" "" "0000436247" "0" "90" "X" "70443732" "70443732" "subst" "0" "00006" "GJB1_000043" "g.70443732G>T" "" "{PMID:Haites 1998:10093067}" "" "" "" "Germline" "" "" "0" "" "" "g.71223882G>T" "" "pathogenic" "" "0000436248" "0" "90" "X" "70443736" "70443736" "subst" "0" "00006" "GJB1_000044" "g.70443736G>T" "" "{PMID:Fairweather 1994:08162049}" "" "" "" "Germline" "" "" "0" "" "" "g.71223886G>T" "" "pathogenic" "" "0000436249" "0" "90" "X" "70443743" "70443743" "subst" "0" "00006" "GJB1_000045" "g.70443743C>G" "" "{PMID:Li 2010:20942588}" "" "" "" "Germline" "" "" "0" "" "" "g.71223893C>G" "" "pathogenic" "" "0000436250" "0" "90" "X" "70443744" "70443744" "subst" "0" "00006" "GJB1_000046" "g.70443744G>A" "" "{PMID:Fairweather 1994:08162049}" "" "" "" "Germline" "" "" "0" "" "" "g.71223894G>A" "" "pathogenic" "" "0000436251" "0" "90" "X" "70443744" "70443744" "subst" "0" "00006" "GJB1_000047" "g.70443744G>T" "" "{PMID:Brozková 2010:20039784}" "" "" "" "Germline" "" "" "0" "" "" "g.71223894G>T" "" "pathogenic" "" "0000436252" "0" "90" "X" "70443748" "70443748" "subst" "0" "00006" "GJB1_000048" "g.70443748G>C" "" "{PMID:Bort 1997:09187667}" "" "" "" "Germline" "" "" "0" "" "" "g.71223898G>C" "" "pathogenic" "" "0000436253" "0" "90" "X" "70443748" "70443748" "subst" "0" "00006" "GJB1_000049" "g.70443748G>T" "" "{PMID:Young 2001:11437164}" "" "" "" "Germline" "" "" "0" "" "" "g.71223898G>T" "" "pathogenic" "" "0000436254" "0" "90" "X" "70443751" "70443751" "subst" "0" "00006" "GJB1_000050" "g.70443751A>G" "" "{PMID:Bone 1995:07477983}" "" "" "" "Germline" "" "" "0" "" "" "g.71223901A>G" "" "pathogenic" "" "0000436255" "0" "90" "X" "70443753" "70443755" "del" "0" "00006" "GJB1_000051" "g.70443753_70443755del" "" "{PMID:Nelis 1999:09888385}" "" "196_198delGAC" "" "Germline" "" "" "0" "" "" "g.71223903_71223905del" "" "pathogenic" "" "0000436256" "0" "90" "X" "70443753" "70443753" "subst" "0" "00006" "GJB1_000052" "g.70443753G>A" "" "{PMID:U-King-Im 2011:21300330}" "" "" "" "Germline" "" "" "0" "" "" "g.71223903G>A" "" "pathogenic" "" "0000436257" "0" "90" "X" "70443577" "70443579" "del" "0" "00006" "GJB1_000053" "g.70443577_70443579del" "" "{PMID:Huehne 2003:12497641}" "" "20_22delACA" "" "Germline" "" "" "0" "" "" "g.71223727_71223729del" "" "pathogenic" "" "0000436258" "0" "90" "X" "70443762" "70443762" "subst" "0" "00006" "GJB1_000054" "g.70443762T>C" "" "{PMID:Yoshihara 2000:10923043}" "" "" "" "Germline" "" "" "0" "" "" "g.71223912T>C" "" "pathogenic" "" "0000436259" "0" "90" "X" "70443765" "70443766" "delins" "0" "00006" "GJB1_000055" "g.70443765_70443766delinsTT" "" "{PMID:Karadima 2006:16096811}" "" "208_209delCCinsTT" "" "Germline" "" "" "0" "" "" "g.71223915_71223916delinsTT" "" "pathogenic" "" "0000436260" "0" "90" "X" "70443765" "70443765" "subst" "0" "00006" "GJB1_000056" "g.70443765C>G" "" "{PMID:Ionasescu 1998:10873293}" "" "" "" "Germline" "" "" "0" "" "" "g.71223915C>G" "" "pathogenic" "" "0000436261" "0" "90" "X" "70443765" "70443765" "subst" "0" "00006" "GJB1_000057" "g.70443765C>T" "" "{PMID:Houlden 2009:18636082}" "" "" "" "Germline" "" "" "0" "" "" "g.71223915C>T" "" "pathogenic" "" "0000436262" "0" "90" "X" "70443577" "70443577" "subst" "0" "00006" "GJB1_000058" "g.70443577A>G" "" "{PMID:Schiavon 1996:08807343}" "" "" "" "Germline" "" "" "0" "" "" "g.71223727A>G" "" "pathogenic" "" "0000436263" "0" "90" "X" "70443767" "70443767" "dup" "0" "00006" "GJB1_000059" "g.70443767dup" "" "{PMID:Nelis 1999:09888385}" "" "210dupC" "" "Germline" "" "" "0" "" "" "g.71223917dup" "" "pathogenic" "" "0000436264" "0" "90" "X" "70443774" "70443774" "del" "0" "00006" "GJB1_000060" "g.70443774del" "" "{PMID:Fairweather 1994:08162049}" "" "217delC" "" "Germline" "" "" "0" "" "" "g.71223924del" "" "pathogenic" "" "0000436265" "0" "90" "X" "70443780" "70443780" "subst" "0" "00006" "GJB1_000061" "g.70443780C>T" "" "{PMID:Silander 1997:09272161}" "" "" "" "Germline" "" "" "0" "" "" "g.71223930C>T" "" "pathogenic" "" "0000436266" "0" "90" "X" "70443781" "70443781" "subst" "0" "00006" "GJB1_000062" "g.70443781G>A" "" "{PMID:Tan 1996:08829637}" "" "" "" "Germline" "" "" "0" "" "" "g.71223931G>A" "" "pathogenic" "" "0000436267" "0" "90" "X" "70443781" "70443781" "subst" "0" "00006" "GJB1_000063" "g.70443781G>C" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223931G>C" "" "pathogenic" "" "0000436268" "0" "90" "X" "70443782" "70443782" "del" "0" "00006" "GJB1_000064" "g.70443782del" "" "{PMID:Braathen 2007:17620124}" "" "225delG" "" "Germline" "" "" "0" "" "" "g.71223932del" "" "pathogenic" "" "0000436269" "0" "90" "X" "70443579" "70443579" "subst" "0" "00006" "GJB1_000065" "g.70443579A>C" "" "{PMID:Haites 1998:10093067}" "" "" "" "Germline" "" "" "0" "" "" "g.71223729A>C" "" "pathogenic" "" "0000436270" "0" "90" "X" "70443787" "70443787" "subst" "0" "00006" "GJB1_000066" "g.70443787G>C" "" "{PMID:Ionasescu 1996:08737658}" "" "" "" "Germline" "" "" "0" "" "" "g.71223937G>C" "" "pathogenic" "" "0000436271" "0" "90" "X" "70443795" "70443795" "subst" "0" "00006" "GJB1_000067" "g.70443795C>T" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223945C>T" "" "pathogenic" "" "0000436272" "0" "90" "X" "70443796" "70443796" "subst" "0" "00006" "GJB1_000068" "g.70443796A>G" "" "{PMID:Ionasescu 1995:07580242}" "" "" "" "Germline" "" "" "0" "" "" "g.71223946A>G" "" "pathogenic" "" "0000436273" "0" "90" "X" "70443580" "70443580" "subst" "0" "00006" "GJB1_000069" "g.70443580C>T" "" "{PMID:Di Iorio 2000:10938190}" "" "" "" "Germline" "" "" "0" "" "" "g.71223730C>T" "" "pathogenic" "" "0000436274" "0" "90" "X" "70443798" "70443798" "subst" "0" "00006" "GJB1_000070" "g.70443798C>T" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.71223948C>T" "" "pathogenic" "" "0000436275" "0" "90" "X" "70443805" "70443814" "del" "0" "00006" "GJB1_000071" "g.70443805_70443814del" "" "{PMID:Abe 2011:21326314}" "" "248_257delTAGTTTCCAC" "" "Germline" "" "" "0" "" "" "g.71223955_71223964del" "" "pathogenic" "" "0000436276" "0" "90" "X" "70443805" "70443805" "subst" "0" "00006" "GJB1_000072" "g.70443805T>C" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.71223955T>C" "" "pathogenic" "" "0000436277" "0" "90" "X" "70443807" "70443807" "subst" "0" "00006" "GJB1_000073" "g.70443807G>A" "" "{PMID:Rouger 1997:09401007}" "" "" "" "Germline" "" "" "0" "" "" "g.71223957G>A" "" "pathogenic" "" "0000436278" "0" "90" "X" "70443811" "70443811" "subst" "0" "00006" "GJB1_000074" "g.70443811C>G" "" "{PMID:Janssen 1997:09099841}" "" "" "" "Germline" "" "" "0" "" "" "g.71223961C>G" "" "pathogenic" "" "0000436279" "0" "90" "X" "70443811" "70443811" "subst" "0" "00006" "GJB1_000075" "g.70443811C>T" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223961C>T" "" "pathogenic" "" "0000436280" "0" "90" "X" "70443813" "70443813" "subst" "0" "00006" "GJB1_000076" "g.70443813A>G" "" "{PMID:Sorour 1998:09452099}" "" "" "" "Germline" "" "" "0" "" "" "g.71223963A>G" "" "pathogenic" "" "0000436281" "0" "90" "X" "70443813" "70443813" "subst" "0" "00006" "GJB1_000077" "g.70443813A>T" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223963A>T" "" "pathogenic" "" "0000436282" "0" "90" "X" "70443814" "70443814" "subst" "0" "00006" "GJB1_000078" "g.70443814C>A" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223964C>A" "" "pathogenic" "" "0000436283" "0" "90" "X" "70443814" "70443814" "subst" "0" "00006" "GJB1_000079" "g.70443814C>T" "" "{PMID:Khidiianova 2008:19062535}" "" "" "" "Germline" "" "" "0" "" "" "g.71223964C>T" "" "pathogenic" "" "0000436284" "0" "90" "X" "70443816" "70443816" "subst" "0" "00006" "GJB1_000080" "g.70443816C>G" "" "{PMID:Nelis 1997:08990008}" "" "" "" "Germline" "" "" "0" "" "" "g.71223966C>G" "" "pathogenic" "" "0000436285" "0" "90" "X" "70443816" "70443816" "subst" "0" "00006" "GJB1_000081" "g.70443816C>T" "" "{PMID:Janssen 1997:09099841}" "" "" "" "Germline" "" "" "0" "" "" "g.71223966C>T" "" "pathogenic" "" "0000436286" "0" "90" "X" "70443817" "70443817" "subst" "0" "00006" "GJB1_000082" "g.70443817C>T" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223967C>T" "" "pathogenic" "" "0000436287" "0" "90" "X" "70443823" "70443823" "subst" "0" "00006" "GJB1_000083" "g.70443823T>C" "" "{PMID:Janssen 1997:09099841}" "" "" "" "Germline" "" "" "0" "" "" "g.71223973T>C" "" "pathogenic" "" "0000436288" "0" "90" "X" "70443825" "70443825" "subst" "0" "00006" "GJB1_000084" "g.70443825C>G" "" "{PMID:Mersiyanova 2000:10737979}" "" "" "" "Germline" "" "" "0" "" "" "g.71223975C>G" "" "pathogenic" "" "0000436289" "0" "90" "X" "70443826" "70443826" "subst" "0" "00006" "GJB1_000085" "g.70443826T>A" "" "{PMID:Latour 1997:09018031}" "" "" "" "Germline" "" "" "0" "" "" "g.71223976T>A" "" "pathogenic" "" "0000436290" "0" "90" "X" "70443583" "70443583" "subst" "0" "00006" "GJB1_000086" "g.70443583T>G" "" "{PMID:Nicholson 1998:09818870}" "" "" "" "Germline" "" "" "0" "" "" "g.71223733T>G" "" "pathogenic" "" "0000436291" "0" "90" "X" "70443828" "70443828" "subst" "0" "00006" "GJB1_000087" "g.70443828G>A" "" "{PMID:Bissar-Tadmouri 2000:11140841}" "" "" "" "Germline" "" "" "0" "" "" "g.71223978G>A" "" "pathogenic" "" "0000436292" "0" "90" "X" "70443828" "70443828" "subst" "0" "00006" "GJB1_000088" "g.70443828G>C" "" "{PMID:Michell 2009:19448103}" "" "" "" "Germline" "" "" "0" "" "" "g.71223978G>C" "" "pathogenic" "" "0000436293" "0" "90" "X" "70443830" "70443831" "del" "0" "00006" "GJB1_000089" "g.70443830_70443831del" "" "{PMID:Sorour 1998:09452099}" "" "273_274delGG" "" "Germline" "" "" "0" "" "" "g.71223980_71223981del" "" "pathogenic" "" "0000436294" "0" "90" "X" "70443832" "70443833" "del" "0" "00006" "GJB1_000090" "g.70443832_70443833del" "" "{PMID:Sorour 1998:09452099}" "" "275_276delCC" "" "Germline" "" "" "0" "" "" "g.71223982_71223983del" "" "pathogenic" "" "0000436295" "0" "90" "X" "70443834" "70443835" "del" "0" "00006" "GJB1_000091" "g.70443834_70443835del" "" "{PMID:Akimoto 2010:20593665}" "" "277_278delAT" "" "Germline" "" "" "0" "" "" "g.71223984_71223985del" "" "pathogenic" "" "0000436296" "0" "90" "X" "70443834" "70443834" "subst" "0" "00006" "GJB1_000092" "g.70443834A>G" "" "{PMID:Mersiyanova 2000:10737979}" "" "" "" "Germline" "" "" "0" "" "" "g.71223984A>G" "" "pathogenic" "" "0000436297" "0" "90" "X" "70443835" "70443835" "subst" "0" "00006" "GJB1_000093" "g.70443835T>A" "" "{PMID:Miltenberger-Miltenyi 2009:19259128}" "" "" "" "Germline" "" "" "0" "" "" "g.71223985T>A" "" "pathogenic" "" "0000436298" "0" "90" "X" "70443584" "70443584" "subst" "0" "00006" "GJB1_000094" "g.70443584G>T" "" "{PMID:Brozková 2010:20039784}" "" "" "" "Germline" "" "" "0" "" "" "g.71223734G>T" "" "pathogenic" "" "0000436299" "0" "90" "X" "70443837" "70443837" "subst" "0" "00006" "GJB1_000095" "g.70443837C>G" "" "{PMID:Dubourg 2001:11571214}" "" "" "" "Germline" "" "" "0" "" "" "g.71223987C>G" "" "pathogenic" "" "0000436300" "0" "90" "X" "70443837" "70443837" "subst" "0" "00006" "GJB1_000096" "g.70443837C>T" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223987C>T" "" "pathogenic" "" "0000436301" "0" "90" "X" "70443839" "70443839" "subst" "0" "00006" "GJB1_000097" "g.70443839C>A" "" "{PMID:Fiorentino 2006:16311287}" "" "" "" "Germline" "" "" "0" "" "" "g.71223989C>A" "" "pathogenic" "" "0000436302" "0" "90" "X" "70443840" "70443840" "subst" "0" "00006" "GJB1_000098" "g.70443840G>A" "" "{PMID:Bone 1995:07477983}" "" "" "" "Germline" "" "" "0" "" "" "g.71223990G>A" "" "pathogenic" "" "0000436303" "0" "90" "X" "70443855" "70443855" "subst" "0" "00006" "GJB1_000099" "g.70443855C>T" "" "{PMID:Sorour 1998:09452099}" "" "" "" "Germline" "" "" "0" "" "" "g.71224005C>T" "" "pathogenic" "" "0000436304" "0" "90" "X" "70443559" "70443559" "subst" "0" "00006" "GJB1_000100" "g.70443559T>G" "" "{PMID:Brozková 2010:20039784}" "" "" "" "Germline" "" "" "0" "" "" "g.71223709T>G" "" "pathogenic" "" "0000436305" "0" "90" "X" "70443861" "70443863" "del" "0" "00006" "GJB1_000101" "g.70443861_70443863del" "" "{PMID:Hanemann 2003:12707076}" "" "304_306delGAG" "" "Germline" "" "" "0" "" "" "g.71224011_71224013del" "" "pathogenic" "" "0000436306" "0" "90" "X" "70443861" "70443861" "subst" "0" "00006" "GJB1_000102" "g.70443861G>T" "" "{PMID:Latour 1997:10732813}" "" "" "" "Germline" "" "" "0" "" "" "g.71224011G>T" "" "pathogenic" "" "0000436307" "1" "90" "X" "70443862" "70443862" "subst" "0" "00006" "GJB1_000103" "g.70443862A>G" "" "{PMID:Ionasescu 1994:08004109}" "" "A367G" "" "Germline" "" "" "0" "" "" "g.71224012A>G" "" "pathogenic (dominant)" "" "0000436308" "0" "90" "X" "70443864" "70443864" "subst" "0" "00006" "GJB1_000104" "g.70443864A>G" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224014A>G" "" "pathogenic" "" "0000436309" "0" "90" "X" "70443868" "70443868" "subst" "0" "00006" "GJB1_000105" "g.70443868A>C" "" "{PMID:Williams 1999:10586284}" "" "" "" "Germline" "" "" "0" "" "" "g.71224018A>C" "" "pathogenic" "" "0000436310" "0" "90" "X" "70443870" "70443870" "del" "0" "00006" "GJB1_000106" "g.70443870del" "" "{PMID:Haites 1998:10093067}" "" "313delA" "" "Germline" "" "" "0" "" "" "g.71224020del" "" "pathogenic" "" "0000436311" "0" "90" "X" "70443876" "70443876" "subst" "0" "00006" "GJB1_000107" "g.70443876C>T" "" "{PMID:Tan 1996:08829637}" "" "" "" "Germline" "" "" "0" "" "" "g.71224026C>T" "" "pathogenic" "" "0000436312" "0" "90" "X" "70443588" "70443588" "subst" "0" "00006" "GJB1_000108" "g.70443588A>G" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.71223738A>G" "" "pathogenic" "" "0000436313" "0" "90" "X" "70443880" "70443880" "subst" "0" "00006" "GJB1_000109" "g.70443880T>C" "" "{PMID:Takashima 2001:11545686}" "" "" "" "Germline" "" "" "0" "" "" "g.71224030T>C" "" "pathogenic" "" "0000436314" "0" "90" "X" "70443881" "70443881" "dup" "0" "00006" "GJB1_000110" "g.70443881dup" "" "{PMID:Lee 2002:12185164}" "" "324dupT" "" "Germline" "" "" "0" "" "" "g.71224031dup" "" "pathogenic" "" "0000436315" "0" "90" "X" "70443886" "70443886" "subst" "0" "00006" "GJB1_000111" "g.70443886G>A" "" "{PMID:Kochanski 2002:12715686}" "" "" "" "Germline" "" "" "0" "" "" "g.71224036G>A" "" "pathogenic" "" "0000436316" "0" "90" "X" "70443889" "70443906" "del" "0" "00006" "GJB1_000112" "g.70443889_70443906del" "" "{PMID:Ionasescu 1995:07580242}" "" "332_349delATGGGGACCCCCTACACC" "" "Germline" "" "" "0" "" "" "g.71224039_71224056del" "" "pathogenic" "" "0000436317" "0" "90" "X" "70443591" "70443591" "subst" "0" "00006" "GJB1_000113" "g.70443591G>A" "" "{PMID:Bergoffen 1993:08266101}" "" "" "" "Germline" "" "" "0" "" "" "g.71223741G>A" "" "pathogenic" "" "0000436318" "0" "90" "X" "70443912" "70443912" "subst" "0" "00006" "GJB1_000114" "g.70443912G>T" "" "{PMID:Shy 2007:17353473}" "" "" "" "Germline" "" "" "0" "" "" "g.71224062G>T" "" "pathogenic" "" "0000436319" "0" "90" "X" "70443915" "70443917" "del" "0" "00006" "GJB1_000115" "g.70443915_70443917del" "" "{PMID:Numakura 2002:12402337}" "" "358_360delGTG" "" "Germline" "" "" "0" "" "" "g.71224065_71224067del" "" "pathogenic" "" "0000436320" "0" "90" "X" "70443916" "70443916" "subst" "0" "00006" "GJB1_000116" "g.70443916T>A" "" "{PMID:Karadimas 1999:10220155}" "" "" "" "Germline" "" "" "0" "" "" "g.71224066T>A" "" "pathogenic" "" "0000436321" "0" "90" "X" "70443931" "70443931" "subst" "0" "00006" "GJB1_000117" "g.70443931T>A" "" "{PMID:Lee 2002:12185164}" "" "" "" "Germline" "" "" "0" "" "" "g.71224081T>A" "" "pathogenic" "" "0000436322" "0" "90" "X" "70443933" "70443933" "subst" "0" "00006" "GJB1_000118" "g.70443933C>T" "" "{PMID:Verhelst 2000:11030070}" "" "" "" "Germline" "" "" "0" "" "" "g.71224083C>T" "" "pathogenic" "" "0000436323" "0" "90" "X" "70443936" "70443936" "subst" "0" "00006" "GJB1_000119" "g.70443936A>T" "" "{PMID:Qiao 2009:20193560}" "" "" "" "Germline" "" "" "0" "" "" "g.71224086A>T" "" "pathogenic" "" "0000436324" "0" "90" "X" "70443594" "70443594" "subst" "6.17773E-5" "00006" "GJB1_000120" "g.70443594G>A" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223744G>A" "" "pathogenic" "" "0000436325" "0" "90" "X" "70443594" "70443594" "subst" "0" "00006" "GJB1_000121" "g.70443594G>T" "" "{PMID:Bone 1995:07477983}" "" "" "" "Germline" "" "" "0" "" "" "g.71223744G>T" "" "pathogenic" "" "0000436326" "0" "90" "X" "70443937" "70443937" "subst" "0" "00006" "GJB1_000122" "g.70443937T>G" "" "{PMID:Vondracek 2005:15468313}" "" "" "" "Germline" "" "" "0" "" "" "g.71224087T>G" "" "pathogenic" "" "0000436327" "0" "90" "X" "70443938" "70443938" "subst" "0" "00006" "GJB1_000123" "g.70443938C>G" "" "{PMID:Nicholson 1998:09818870}" "" "" "" "Germline" "" "" "0" "" "" "g.71224088C>G" "" "pathogenic" "" "0000436328" "0" "90" "X" "70443939" "70443939" "subst" "0" "00006" "GJB1_000124" "g.70443939T>C" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224089T>C" "" "pathogenic" "" "0000436329" "0" "90" "X" "70443940" "70443940" "subst" "0" "00006" "GJB1_000125" "g.70443940C>G" "" "{PMID:Yoshihara 2000:10923043}" "" "" "" "Germline" "" "" "0" "" "" "g.71224090C>G" "" "pathogenic" "" "0000436330" "0" "90" "X" "70443940" "70443940" "subst" "0" "00006" "GJB1_000126" "g.70443940C>T" "" "{PMID:Mazzeo 2008:18717720}" "" "" "" "Germline" "" "" "0" "" "" "g.71224090C>T" "" "pathogenic" "" "0000436331" "0" "90" "X" "70443946" "70443946" "subst" "0" "00006" "GJB1_000127" "g.70443946C>T" "" "{PMID:Dubourg 2001:11571214}" "" "" "" "Germline" "" "" "0" "" "" "g.71224096C>T" "" "pathogenic" "" "0000436332" "0" "90" "X" "70443949" "70443949" "subst" "0" "00006" "GJB1_000128" "g.70443949T>C" "" "{PMID:Nicholson 1998:09818870}" "" "" "" "Germline" "" "" "0" "" "" "g.71224099T>C" "" "pathogenic" "" "0000436333" "0" "90" "X" "70443951" "70443952" "del" "0" "00006" "GJB1_000129" "g.70443951_70443952del" "" "{PMID:Nelis 1999:09888385}" "" "394_395delTG" "" "Germline" "" "" "0" "" "" "g.71224101_71224102del" "" "pathogenic" "" "0000436334" "0" "90" "X" "70443953" "70443953" "subst" "0" "00006" "GJB1_000130" "g.70443953G>A" "" "{PMID:Lin 1999:10587015}" "" "" "" "Germline" "" "" "0" "" "" "g.71224103G>A" "" "pathogenic" "" "0000436335" "0" "90" "X" "70443954" "70443954" "del" "0" "00006" "GJB1_000131" "g.70443954del" "" "{PMID:Sakaguchi 2011:20857133}" "" "397delT" "" "Germline" "" "" "0" "" "" "g.71224104del" "" "pathogenic" "" "0000436336" "0" "90" "X" "70443954" "70443954" "subst" "0" "00006" "GJB1_000132" "g.70443954T>C" "" "{PMID:Bone 1995:07477983}" "" "" "" "Germline" "" "" "0" "" "" "g.71224104T>C" "" "pathogenic" "" "0000436337" "0" "90" "X" "70443956" "70443956" "subst" "0" "00006" "GJB1_000133" "g.70443956G>A" "" "{PMID:Ressot 1996:08698335}" "" "" "" "Germline" "" "" "0" "" "" "g.71224106G>A" "" "pathogenic" "" "0000436338" "0" "90" "X" "70443956" "70443956" "subst" "0" "00006" "GJB1_000134" "g.70443956G>T" "" "{PMID:Sorour 1998:09452099}" "" "" "" "Germline" "" "" "0" "" "" "g.71224106G>T" "" "pathogenic" "" "0000436339" "0" "90" "X" "70443961" "70443961" "subst" "0" "00006" "GJB1_000135" "g.70443961A>G" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.71224111A>G" "" "pathogenic" "" "0000436340" "0" "90" "X" "70443964" "70443964" "subst" "0" "00006" "GJB1_000136" "g.70443964T>C" "" "{PMID:Choi 2004:15241803}" "" "" "" "Germline" "" "" "0" "" "" "g.71224114T>C" "" "pathogenic" "" "0000436341" "0" "90" "X" "70443967" "70443967" "del" "0" "00006" "GJB1_000137" "g.70443967del" "" "{PMID:Bone 1995:07477983}" "" "410delT" "" "Germline" "" "" "0" "" "" "g.71224117del" "" "pathogenic" "" "0000436342" "0" "90" "X" "70443970" "70443970" "subst" "0" "00006" "GJB1_000138" "g.70443970G>A" "" "{PMID:Huehne 2003:12497641}" "" "" "" "Germline" "" "" "0" "" "" "g.71224120G>A" "" "pathogenic" "" "0000436343" "0" "90" "X" "70443972" "70443972" "subst" "0" "00006" "GJB1_000139" "g.70443972G>A" "" "{PMID:Bergoffen 1993:08266101}" "" "" "" "Germline" "" "" "0" "" "" "g.71224122G>A" "" "pathogenic" "" "0000436344" "0" "90" "X" "70443976" "70443976" "subst" "0" "00006" "GJB1_000140" "g.70443976T>A" "" "{PMID:Kleopa 2006:16476939}" "" "" "" "Germline" "" "" "0" "" "" "g.71224126T>A" "" "pathogenic" "" "0000436345" "0" "90" "X" "70443980" "70443980" "subst" "0" "00006" "GJB1_000141" "g.70443980C>G" "" "{PMID:Rouger 1997:09401007}" "" "" "" "Germline" "" "" "0" "" "" "g.71224130C>G" "" "pathogenic" "" "0000436346" "0" "90" "X" "70443981" "70443981" "subst" "0" "00006" "GJB1_000142" "g.70443981C>T" "" "{PMID:Bergoffen 1993:08266101}" "" "" "" "Germline" "" "" "0" "" "" "g.71224131C>T" "" "pathogenic" "" "0000436347" "0" "90" "X" "70443981" "70443981" "del" "0" "00006" "GJB1_000143" "g.70443981del" "" "{PMID:Takashima 2001:11545686}" "" "424delC" "" "Germline" "" "" "0" "" "" "g.71224131del" "" "pathogenic" "" "0000436348" "21" "90" "X" "70443981" "70443981" "subst" "0" "00006" "GJB1_000142" "g.70443981C>T" "" "{PMID:Ionasescu 1994:08004109}" "HpaII-" "C486T (Arg142Trp)" "" "Germline" "yes" "" "0" "" "" "g.71224131C>T" "" "pathogenic (dominant)" "" "0000436349" "0" "90" "X" "70443985" "70443985" "subst" "0" "00006" "GJB1_000145" "g.70443985T>C" "" "{PMID:Kleopa 2006:16476939}" "" "" "" "Germline" "" "" "0" "" "" "g.71224135T>C" "" "pathogenic" "" "0000436350" "0" "90" "X" "70443989" "70443991" "del" "0" "00006" "GJB1_000146" "g.70443989_70443991del" "" "{PMID:Fairweather 1994:08162049}" "" "432_434delGTT" "" "Germline" "" "" "0" "" "" "g.71224139_71224141del" "" "pathogenic" "" "0000436351" "0" "90" "X" "70443993" "70443993" "subst" "0" "00006" "GJB1_000147" "g.70443993G>A" "" "{PMID:Numakura 2002:12402337}" "" "" "" "Germline" "" "" "0" "" "" "g.71224143G>A" "" "pathogenic" "" "0000436352" "0" "90" "X" "70443994" "70443994" "subst" "0" "00006" "GJB1_000148" "g.70443994A>C" "" "{PMID:Miltenberger-Miltenyi 2009:19259128}" "" "" "" "Germline" "" "" "0" "" "" "g.71224144A>C" "" "pathogenic" "" "0000436353" "0" "90" "X" "70443996" "70443996" "del" "0" "00006" "GJB1_000149" "g.70443996del" "" "{PMID:Meggouh 1998:09541114}" "" "439delG" "" "Germline" "" "" "0" "" "" "g.71224146del" "" "pathogenic" "" "0000436354" "0" "90" "X" "70443600" "70443600" "subst" "0" "00006" "GJB1_000150" "g.70443600C>T" "" "{PMID:Janssen 1997:09099841}" "" "" "" "Germline" "" "" "0" "" "" "g.71223750C>T" "" "pathogenic" "" "0000436355" "0" "90" "X" "70443600" "70443600" "del" "0" "00006" "GJB1_000151" "g.70443600del" "" "{PMID:Takashima 2001:11545686}" "" "43delC" "" "Germline" "" "" "0" "" "" "g.71223750del" "" "pathogenic" "" "0000436356" "0" "90" "X" "70443997" "70443997" "subst" "0" "00006" "GJB1_000152" "g.70443997C>A" "" "{PMID:Numakura 2002:12402337}" "" "" "" "Germline" "" "" "0" "" "" "g.71224147C>A" "" "pathogenic" "" "0000436357" "0" "90" "X" "70444002" "70444002" "subst" "0" "00006" "GJB1_000153" "g.70444002T>A" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.71224152T>A" "" "pathogenic" "" "0000436358" "0" "90" "X" "70444002" "70444002" "subst" "0" "00006" "GJB1_000154" "g.70444002T>G" "" "{PMID:Williams 1999:10586284}" "" "" "" "Germline" "" "" "0" "" "" "g.71224152T>G" "" "pathogenic" "" "0000436359" "0" "90" "X" "70443601" "70443601" "subst" "0" "00006" "GJB1_000155" "g.70443601G>A" "" "{PMID:Fairweather 1994:08162049}" "" "" "" "Germline" "" "" "0" "" "" "g.71223751G>A" "" "pathogenic" "" "0000436360" "0" "90" "X" "70444008" "70444008" "subst" "0" "00006" "GJB1_000156" "g.70444008T>C" "" "{PMID:Park 2006:16922730}" "" "" "" "Germline" "" "" "0" "" "" "g.71224158T>C" "" "pathogenic" "" "0000436361" "0" "90" "X" "70444012" "70444012" "subst" "0" "00006" "GJB1_000157" "g.70444012T>A" "" "{PMID:Kochanski 2002:12715686}" "" "" "" "Germline" "" "" "0" "" "" "g.71224162T>A" "" "pathogenic" "" "0000436362" "0" "90" "X" "70444015" "70444015" "subst" "0" "00006" "GJB1_000158" "g.70444015T>C" "" "{PMID:Lee 2002:12185164}" "" "" "" "Germline" "" "" "0" "" "" "g.71224165T>C" "" "pathogenic" "" "0000436363" "0" "90" "X" "70444016" "70444017" "del" "0" "00006" "GJB1_000159" "g.70444016_70444017del" "" "{PMID:Casasnovas 2006:17100997}" "" "459_460delTT" "" "Germline" "" "" "0" "" "" "g.71224166_71224167del" "" "pathogenic" "" "0000436364" "0" "90" "X" "70444019" "70444019" "subst" "0" "00006" "GJB1_000160" "g.70444019T>G" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224169T>G" "" "pathogenic" "" "0000436365" "0" "90" "X" "70444023" "70444032" "del" "0" "00006" "GJB1_000161" "g.70444023_70444032del" "" "{PMID:Umehara 2006:16519791}" "" "466_475delCTCTACCCTG" "" "Germline" "" "" "0" "" "" "g.71224173_71224182del" "" "pathogenic" "" "0000436366" "0" "90" "X" "70444023" "70444023" "subst" "0" "00006" "GJB1_000162" "g.70444023C>T" "" "{PMID:Latour 1997:09018031}" "" "" "" "Germline" "" "" "0" "" "" "g.71224173C>T" "" "pathogenic" "" "0000436367" "0" "90" "X" "70444024" "70444024" "subst" "0" "00006" "GJB1_000163" "g.70444024T>G" "" "{PMID:Bergoffen 1993:08266101}" "" "" "" "Germline" "" "" "0" "" "" "g.71224174T>G" "" "pathogenic" "" "0000436368" "0" "90" "X" "70444027" "70444027" "subst" "0" "00006" "GJB1_000164" "g.70444027A>G" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224177A>G" "" "pathogenic" "" "0000436369" "0" "90" "X" "70444029" "70444029" "subst" "0" "00006" "GJB1_000165" "g.70444029C>T" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.71224179C>T" "" "pathogenic" "" "0000436370" "0" "90" "X" "70444030" "70444030" "subst" "0" "00006" "GJB1_000166" "g.70444030C>G" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224180C>G" "" "pathogenic" "" "0000436371" "0" "90" "X" "70444031" "70444031" "del" "0" "00006" "GJB1_000167" "g.70444031del" "" "{PMID:Nicholson 1998:09818870}" "" "474delT" "" "Germline" "" "" "0" "" "" "g.71224181del" "" "pathogenic" "" "0000436372" "0" "90" "X" "70444032" "70444032" "subst" "0" "00006" "GJB1_000168" "g.70444032G>A" "" "{PMID:Latour 1997:10732813}" "" "" "" "Germline" "" "" "0" "" "" "g.71224182G>A" "" "pathogenic" "" "0000436373" "0" "90" "X" "70444033" "70444033" "subst" "0" "00006" "GJB1_000169" "g.70444033G>A" "" "{PMID:Dubourg 2001:11404117}" "" "" "" "Germline" "" "" "0" "" "" "g.71224183G>A" "" "pathogenic" "" "0000436374" "0" "90" "X" "70444035" "70444035" "subst" "0" "00006" "GJB1_000170" "g.70444035T>C" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224185T>C" "" "pathogenic" "" "0000436375" "0" "90" "X" "70443604" "70443604" "subst" "0" "00006" "GJB1_000171" "g.70443604A>C" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223754A>C" "" "pathogenic" "" "0000436376" "0" "90" "X" "70443604" "70443604" "subst" "0" "00006" "GJB1_000172" "g.70443604A>T" "" "{PMID:Keckarevic-Markovic 2009:19691535}" "" "" "" "Germline" "" "" "0" "" "" "g.71223754A>T" "" "pathogenic" "" "0000436377" "0" "90" "X" "70444038" "70444038" "subst" "0" "00006" "GJB1_000173" "g.70444038G>C" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224188G>C" "" "pathogenic" "" "0000436378" "0" "90" "X" "70443605" "70443605" "subst" "0" "00006" "GJB1_000174" "g.70443605T>G" "" "{PMID:Keckarevic-Markovic 2009:19691535}" "" "" "" "Germline" "" "" "0" "" "" "g.71223755T>G" "" "pathogenic" "" "0000436379" "0" "90" "X" "70444047" "70444047" "subst" "0" "00006" "GJB1_000175" "g.70444047C>T" "" "{PMID:Ionasescu 1995:07580242}" "" "" "" "Germline" "" "" "0" "" "" "g.71224197C>T" "" "pathogenic" "" "0000436380" "0" "90" "X" "70444048" "70444048" "subst" "5.99089E-6" "00006" "GJB1_000176" "g.70444048G>A" "" "{PMID:Bort 1997:09187667}" "" "" "" "Germline" "" "" "0" "" "" "g.71224198G>A" "" "pathogenic" "" "0000436381" "0" "90" "X" "70444056" "70444056" "subst" "0" "00006" "GJB1_000177" "g.70444056A>G" "" "{PMID:Kochanski 2004:14960772}" "" "" "" "Germline" "" "" "0" "" "" "g.71224206A>G" "" "pathogenic" "" "0000436382" "0" "90" "X" "70444059" "70444059" "subst" "0" "00006" "GJB1_000178" "g.70444059T>C" "" "{PMID:Choi 2004:15241803}" "" "" "" "Germline" "" "" "0" "" "" "g.71224209T>C" "" "pathogenic" "" "0000436383" "0" "90" "X" "70444060" "70444060" "subst" "0" "00006" "GJB1_000179" "g.70444060G>A" "" "{PMID:Paulson 2002:12325071}" "" "" "" "Germline" "" "" "0" "" "" "g.71224210G>A" "" "pathogenic" "" "0000436384" "0" "90" "X" "70443607" "70443607" "subst" "0" "00006" "GJB1_000180" "g.70443607C>A" "" "{PMID:Brozková 2010:20039784}" "" "" "" "Germline" "" "" "0" "" "" "g.71223757C>A" "" "pathogenic" "" "0000436385" "0" "90" "X" "70443607" "70443607" "subst" "0" "00006" "GJB1_000181" "g.70443607C>G" "" "{PMID:Mandich 2008:18379723}" "" "" "" "Germline" "" "" "0" "" "" "g.71223757C>G" "" "pathogenic" "" "0000436386" "0" "90" "X" "70444071" "70444071" "subst" "0" "00006" "GJB1_000182" "g.70444071C>G" "" "{PMID:Huehne 2003:12497641}" "" "" "" "Germline" "" "" "0" "" "" "g.71224221C>G" "" "pathogenic" "" "0000436387" "0" "90" "X" "70444071" "70444071" "subst" "5.82476E-6" "00006" "GJB1_000183" "g.70444071C>T" "" "{PMID:Bergoffen 1993:08266101}" "" "" "" "Germline" "" "" "0" "" "" "g.71224221C>T" "" "pathogenic" "" "0000436388" "0" "90" "X" "70444072" "70444072" "subst" "0" "00006" "GJB1_000184" "g.70444072C>G" "" "{PMID:Yoshimura 1998:09469569}" "" "" "" "Germline" "" "" "0" "" "" "g.71224222C>G" "" "pathogenic" "" "0000436389" "0" "90" "X" "70444072" "70444072" "subst" "0" "00006" "GJB1_000185" "g.70444072C>T" "" "{PMID:Silander 1998:09633821}" "" "" "" "Germline" "" "" "0" "" "" "g.71224222C>T" "" "pathogenic" "" "0000436390" "0" "90" "X" "70444074" "70444074" "subst" "0" "00006" "GJB1_000186" "g.70444074T>C" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.71224224T>C" "" "pathogenic" "" "0000436391" "0" "90" "X" "70444075" "70444075" "subst" "0" "00006" "GJB1_000187" "g.70444075G>T" "" "{PMID:Shy 2007:17353473}" "" "" "" "Germline" "" "" "0" "" "" "g.71224225G>T" "" "pathogenic" "" "0000436392" "0" "90" "X" "70444080" "70444080" "subst" "0" "00006" "GJB1_000188" "g.70444080A>G" "" "{PMID:Silander 1998:09633821}" "" "" "" "Germline" "" "" "0" "" "" "g.71224230A>G" "" "pathogenic" "" "0000436393" "0" "90" "X" "70444081" "70444081" "subst" "0" "00006" "GJB1_000189" "g.70444081A>G" "" "{PMID:Karadima 2006:16096811}" "" "" "" "Germline" "" "" "0" "" "" "g.71224231A>G" "" "pathogenic" "" "0000436394" "0" "90" "X" "70444081" "70444081" "dup" "0" "00006" "GJB1_000190" "g.70444081dup" "" "{PMID:Bergoffen 1993:08266101}" "" "524dupA" "" "Germline" "" "" "0" "" "" "g.71224231dup" "" "pathogenic" "" "0000436395" "0" "90" "X" "70444087" "70444087" "subst" "0" "00006" "GJB1_000191" "g.70444087T>A" "" "{PMID:Williams 1999:10586284}" "" "" "" "Germline" "" "" "0" "" "" "g.71224237T>A" "" "pathogenic" "" "0000436396" "0" "90" "X" "70444087" "70444087" "subst" "0" "00006" "GJB1_000192" "g.70444087T>C" "" "{PMID:Ikegami 1998:09856562}" "" "" "" "Germline" "" "" "0" "" "" "g.71224237T>C" "" "pathogenic" "" "0000436397" "0" "90" "X" "70444089" "70444089" "subst" "0" "00006" "GJB1_000193" "g.70444089G>T" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224239G>T" "" "pathogenic" "" "0000436398" "0" "90" "X" "70444090" "70444090" "subst" "0" "00006" "GJB1_000194" "g.70444090A>G" "" "{PMID:Qiao 2009:20193560}" "" "" "" "Germline" "" "" "0" "" "" "g.71224240A>G" "" "pathogenic" "" "0000436399" "0" "90" "X" "70444092" "70444092" "subst" "0" "00006" "GJB1_000195" "g.70444092T>C" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224242T>C" "" "pathogenic" "" "0000436400" "0" "90" "X" "70444092" "70444092" "subst" "0" "00006" "GJB1_000196" "g.70444092T>G" "" "{PMID:Moszynka 2009:20128140}" "" "" "" "Germline" "" "" "0" "" "" "g.71224242T>G" "" "pathogenic" "" "0000436401" "0" "90" "X" "70444093" "70444093" "subst" "0" "00006" "GJB1_000197" "g.70444093G>A" "" "{PMID:Casasnovas 2006:17100997}" "" "" "" "Germline" "" "" "0" "" "" "g.71224243G>A" "" "pathogenic" "" "0000436402" "0" "90" "X" "70444096" "70444096" "subst" "0" "00006" "GJB1_000198" "g.70444096T>C" "" "{PMID:Ionasescu 1998:10873293}" "" "" "" "Germline" "" "" "0" "" "" "g.71224246T>C" "" "pathogenic" "" "0000436403" "0" "90" "X" "70444097" "70444097" "subst" "0" "00006" "GJB1_000199" "g.70444097C>G" "" "{PMID:Park 2006:16922730}" "" "" "" "Germline" "" "" "0" "" "" "g.71224247C>G" "" "pathogenic" "" "0000436404" "0" "90" "X" "70444098" "70444098" "subst" "0" "00006" "GJB1_000200" "g.70444098G>A" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224248G>A" "" "pathogenic" "" "0000436405" "0" "90" "X" "70444099" "70444099" "subst" "0" "00006" "GJB1_000201" "g.70444099T>C" "" "{PMID:Abrams 2003:14627639}" "" "" "" "Germline" "" "" "0" "" "" "g.71224249T>C" "" "pathogenic" "" "0000436406" "0" "90" "X" "70444101" "70444101" "subst" "0" "00006" "GJB1_000202" "g.70444101T>A" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224251T>A" "" "pathogenic" "" "0000436407" "0" "90" "X" "70444102" "70444102" "subst" "0" "00006" "GJB1_000203" "g.70444102C>G" "" "{PMID:Mandich 2008:18379723}" "" "" "" "Germline" "" "" "0" "" "" "g.71224252C>G" "" "pathogenic" "" "0000436408" "0" "90" "X" "70444102" "70444102" "subst" "0" "00006" "GJB1_000204" "g.70444102C>T" "" "{PMID:Mandich 2008:18379723}" "" "" "" "Germline" "" "" "0" "" "" "g.71224252C>T" "" "pathogenic" "" "0000436409" "0" "90" "X" "70444104" "70444104" "subst" "0" "00006" "GJB1_000205" "g.70444104C>A" "" "{PMID:Bort 1997:09187667}" "" "" "" "Germline" "" "" "0" "" "" "g.71224254C>A" "" "pathogenic" "" "0000436410" "0" "90" "X" "70444104" "70444104" "subst" "0" "00006" "GJB1_000206" "g.70444104C>T" "" "{PMID:Bort 1997:09187667}" "" "" "" "Germline" "" "" "0" "" "" "g.71224254C>T" "" "pathogenic" "" "0000436411" "0" "90" "X" "70444105" "70444105" "subst" "0" "00006" "GJB1_000207" "g.70444105G>A" "" "{PMID:Bort 1997:09187667}" "" "" "" "Germline" "" "" "0" "" "" "g.71224255G>A" "" "pathogenic" "" "0000436412" "0" "90" "X" "70444105" "70444105" "subst" "0" "00006" "GJB1_000208" "g.70444105G>C" "" "{PMID:Mandich 2008:18379723}" "" "" "" "Germline" "" "" "0" "" "" "g.71224255G>C" "" "pathogenic" "" "0000436413" "0" "90" "X" "70444108" "70444108" "subst" "0" "00006" "GJB1_000209" "g.70444108C>G" "" "{PMID:Latour 1997:10732813}" "" "" "" "Germline" "" "" "0" "" "" "g.71224258C>G" "" "pathogenic" "" "0000436414" "0" "90" "X" "70444110" "70444112" "del" "0" "00006" "GJB1_000210" "g.70444110_70444112del" "" "{PMID:Bone 1997:09361298}" "" "553_555delACC" "" "Germline" "" "" "0" "" "" "g.71224260_71224262del" "" "pathogenic" "" "0000436415" "0" "90" "X" "70444113" "70444113" "dup" "0" "00006" "GJB1_000211" "g.70444113dup" "" "{PMID:Ionasescu 1995:07580242}" "" "556dupG" "" "Germline" "" "" "0" "" "" "g.71224263dup" "" "pathogenic" "" "0000436416" "0" "90" "X" "70444113" "70444113" "subst" "0" "00006" "GJB1_000212" "g.70444113G>A" "" "{PMID:Bergoffen 1993:08266101}" "" "" "" "Germline" "" "" "0" "" "" "g.71224263G>A" "" "pathogenic" "" "0000436417" "11" "90" "X" "70444113" "70444113" "subst" "0" "00006" "GJB1_000213" "g.70444113G>T" "" "{PMID:Ionasescu 1994:08004109}" "" "G618T" "" "Germline" "yes" "" "0" "" "" "g.71224263G>T" "" "pathogenic (dominant)" "" "0000436418" "0" "90" "X" "70444114" "70444114" "subst" "0" "00006" "GJB1_000214" "g.70444114A>T" "" "{PMID:Shy 2007:17353473}" "" "" "" "Germline" "" "" "0" "" "" "g.71224264A>T" "" "pathogenic" "" "0000436419" "0" "90" "X" "70444116" "70444116" "subst" "0" "00006" "GJB1_000215" "g.70444116A>G" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224266A>G" "" "pathogenic" "" "0000436420" "0" "90" "X" "70444118" "70444126" "dup" "0" "00006" "GJB1_000216" "g.70444118_70444126dup" "" "{PMID:Keckarevic-Markovic 2009:19691535}" "" "561_569dupAACCGTCTT" "" "Germline" "" "" "0" "" "" "g.71224268_71224276dup" "" "pathogenic" "" "0000436421" "0" "90" "X" "70444122" "70444122" "subst" "1.13614E-5" "00006" "GJB1_000217" "g.70444122G>A" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224272G>A" "" "pathogenic" "" "0000436422" "0" "90" "X" "70444123" "70444123" "subst" "0" "00006" "GJB1_000218" "g.70444123T>G" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224273T>G" "" "pathogenic" "" "0000436423" "0" "90" "X" "70444128" "70444128" "subst" "0" "00006" "GJB1_000219" "g.70444128A>G" "" "{PMID:Kobari 2000:11257785}" "" "" "" "Germline" "" "" "0" "" "" "g.71224278A>G" "" "pathogenic" "" "0000436424" "0" "90" "X" "70444128" "70444128" "dup" "0" "00006" "GJB1_000220" "g.70444128dup" "" "{PMID:Lee 2002:12185164}" "" "571dupA" "" "Germline" "" "" "0" "" "" "g.71224278dup" "" "pathogenic" "" "0000436425" "0" "90" "X" "70444129" "70444137" "del" "0" "00006" "GJB1_000221" "g.70444129_70444137del" "" "{PMID:Bone 1997:09361298}" "" "572_580delCCGTCTTCA" "" "Germline" "" "" "0" "" "" "g.71224279_71224287del" "" "pathogenic" "" "0000436426" "0" "90" "X" "70444129" "70444137" "dup" "0" "00006" "GJB1_000222" "g.70444129_70444137dup" "" "{PMID:Vazza 2006:17052905}" "" "572_580dupCCGTCTTCA" "" "Germline" "" "" "0" "" "" "g.71224279_71224287dup" "" "pathogenic" "" "0000436427" "0" "90" "X" "70444130" "70444131" "ins" "0" "00006" "GJB1_000223" "g.70444130_70444131insTCA" "" "{PMID:Zhou 2004:15574129}" "" "" "" "Germline" "" "" "0" "" "" "g.71224280_71224281insTCA" "" "pathogenic" "" "0000436428" "0" "90" "X" "70444130" "70444138" "del" "0" "00006" "GJB1_000224" "g.70444130_70444138del" "" "{PMID:Mandich 2008:18379723}" "" "573_581delCGTCTTCAT" "" "Germline" "" "" "0" "" "" "g.71224280_71224288del" "" "pathogenic" "" "0000436429" "0" "90" "X" "70444131" "70444131" "subst" "5.66681E-6" "00006" "GJB1_000225" "g.70444131G>T" "" "{PMID:Nicholson 1998:09818870}" "" "" "" "Germline" "" "" "0" "" "" "g.71224281G>T" "" "pathogenic" "" "0000436430" "0" "90" "X" "70444135" "70444135" "subst" "0" "00006" "GJB1_000226" "g.70444135T>G" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224285T>G" "" "pathogenic" "" "0000436431" "0" "90" "X" "70444136" "70444136" "subst" "0" "00006" "GJB1_000227" "g.70444136C>G" "" "{PMID:Mersiyanova 2000:10737979}" "" "" "" "Germline" "" "" "0" "" "" "g.71224286C>G" "" "pathogenic" "" "0000436432" "0" "90" "X" "70444137" "70444137" "subst" "0" "00006" "GJB1_000228" "g.70444137A>G" "" "{PMID:Silander 1997:09272161}" "" "" "" "Germline" "" "" "0" "" "" "g.71224287A>G" "" "pathogenic" "" "0000436433" "0" "90" "X" "70443616" "70443618" "delins" "0" "00006" "GJB1_000229" "g.70443616_70443618delinsATA" "" "{PMID:Mersiyanova 2000:10737979}" "" "59_61delTTGinsATA" "" "Germline" "" "" "0" "" "" "g.71223766_71223768delinsATA" "" "pathogenic" "" "0000436434" "0" "90" "X" "70444149" "70444149" "subst" "0" "00006" "GJB1_000230" "g.70444149T>G" "" "{PMID:Miltenberger-Miltenyi 2009:19259128}" "" "" "" "Germline" "" "" "0" "" "" "g.71224299T>G" "" "pathogenic" "" "0000436435" "0" "90" "X" "70444150" "70444150" "subst" "0" "00006" "GJB1_000231" "g.70444150C>T" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224300C>T" "" "pathogenic" "" "0000436436" "0" "90" "X" "70444152" "70444152" "subst" "0" "00006" "GJB1_000232" "g.70444152G>C" "" "{PMID:Janssen 1997:09099841}" "" "" "" "Germline" "" "" "0" "" "" "g.71224302G>C" "" "pathogenic" "" "0000436437" "0" "90" "X" "70443616" "70443616" "subst" "0" "00006" "GJB1_000233" "g.70443616T>G" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223766T>G" "" "pathogenic" "" "0000436438" "0" "90" "X" "70444158" "70444158" "subst" "0" "00006" "GJB1_000234" "g.70444158T>C" "" "{PMID:Sillen 1998:09452025}" "" "" "" "Germline" "" "" "0" "" "" "g.71224308T>C" "" "pathogenic" "" "0000436439" "0" "90" "X" "70444158" "70444158" "subst" "0" "00006" "GJB1_000235" "g.70444158T>G" "" "{PMID:Shy 2007:17353473}" "" "" "" "Germline" "" "" "0" "" "" "g.71224308T>G" "" "pathogenic" "" "0000436440" "0" "90" "X" "70444159" "70444159" "subst" "0" "00006" "GJB1_000236" "g.70444159G>A" "" "{PMID:Hattori 2003:12477701}" "" "" "" "Germline" "" "" "0" "" "" "g.71224309G>A" "" "pathogenic" "" "0000436441" "0" "90" "X" "70444159" "70444159" "subst" "0" "00006" "GJB1_000237" "g.70444159G>T" "" "{PMID:Casasnovas 2006:17100997}" "" "" "" "Germline" "" "" "0" "" "" "g.71224309G>T" "" "pathogenic" "" "0000436442" "0" "90" "X" "70444165" "70444165" "subst" "0" "00006" "GJB1_000238" "g.70444165T>A" "" "{PMID:Rouger 1997:09401007}" "" "" "" "Germline" "" "" "0" "" "" "g.71224315T>A" "" "pathogenic" "" "0000436443" "0" "90" "X" "70444167" "70444167" "subst" "0" "00006" "GJB1_000239" "g.70444167C>G" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224317C>G" "" "pathogenic" "" "0000436444" "0" "90" "X" "70444167" "70444167" "subst" "0" "00006" "GJB1_000240" "g.70444167C>T" "" "{PMID:Silander 1998:09633821}" "" "" "" "Germline" "" "" "0" "" "" "g.71224317C>T" "" "pathogenic" "" "0000436445" "0" "90" "X" "70444171" "70444171" "subst" "0" "00006" "GJB1_000241" "g.70444171A>G" "" "{PMID:Sorour 1998:09452099}" "" "" "" "Germline" "" "" "0" "" "" "g.71224321A>G" "" "pathogenic" "" "0000436446" "0" "90" "X" "70444171" "70444171" "subst" "0" "00006" "GJB1_000242" "g.70444171A>T" "" "{PMID:Boerkoel 2002:11835375}" "" "" "" "Germline" "" "" "0" "" "" "g.71224321A>T" "" "pathogenic" "" "0000436447" "0" "90" "X" "70444174" "70444174" "dup" "0" "00006" "GJB1_000243" "g.70444174dup" "" "{PMID:Senderek 1999:10521546}" "" "617dupT" "" "Germline" "" "" "0" "" "" "g.71224324dup" "" "pathogenic" "" "0000436448" "0" "90" "X" "70444179" "70444179" "subst" "0" "00006" "GJB1_000244" "g.70444179G>A" "" "{PMID:Fairweather 1994:08162049}" "" "" "" "Germline" "" "" "0" "" "" "g.71224329G>A" "" "pathogenic" "" "0000436449" "0" "90" "X" "70444180" "70444180" "subst" "0" "00006" "GJB1_000245" "g.70444180A>G" "" "{PMID:Kochanski 2000:11180613}" "" "" "" "Germline" "" "" "0" "" "" "g.71224330A>G" "" "pathogenic" "" "0000436450" "0" "90" "X" "70444185" "70444187" "del" "0" "00006" "GJB1_000246" "g.70444185_70444187del" "" "{PMID:Numakura 2002:12402337}" "" "628_630delGTG" "" "Germline" "" "" "0" "" "" "g.71224335_71224337del" "" "pathogenic" "" "0000436451" "0" "90" "X" "70443619" "70443619" "subst" "0" "00006" "GJB1_000247" "g.70443619G>A" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223769G>A" "" "pathogenic" "" "0000436452" "0" "90" "X" "70444188" "70444188" "subst" "0" "00006" "GJB1_000248" "g.70444188T>C" "" "{PMID:Bissar-Tadmouri 2000:11140841}" "" "" "" "Germline" "" "" "0" "" "" "g.71224338T>C" "" "pathogenic" "" "0000436453" "0" "90" "X" "70444190" "70444190" "subst" "0" "00006" "GJB1_000249" "g.70444190C>A" "" "{PMID:Tan 1996:08829637}" "" "" "" "Germline" "" "" "0" "" "" "g.71224340C>A" "" "pathogenic" "" "0000436454" "0" "90" "X" "70444191" "70444191" "subst" "0" "00006" "GJB1_000250" "g.70444191C>T" "" "{PMID:Brozková 2010:20039784}" "" "" "" "Germline" "" "" "0" "" "" "g.71224341C>T" "" "pathogenic" "" "0000436455" "0" "90" "X" "70444191" "70444191" "del" "0" "00006" "GJB1_000251" "g.70444191del" "" "{PMID:Casasnovas 2006:17100997}" "" "634delC" "" "Germline" "" "" "0" "" "" "g.71224341del" "" "pathogenic" "" "0000436456" "0" "90" "X" "70444194" "70444197" "delins" "0" "00006" "GJB1_000252" "g.70444194_70444197delinsC" "" "{PMID:Rouger 1997:09401007}" "" "637_640delATCAinsC" "" "Germline" "" "" "0" "" "" "g.71224344_71224347delinsC" "" "pathogenic" "" "0000436457" "0" "90" "X" "70444194" "70444194" "subst" "2.27692E-5" "00006" "GJB1_000253" "g.70444194A>G" "" "{PMID:Yum 2002:12460545}" "" "" "" "Germline" "" "" "0" "" "" "g.71224344A>G" "" "pathogenic" "" "0000436458" "0" "90" "X" "70444198" "70444198" "subst" "0" "00006" "GJB1_000254" "g.70444198T>A" "" "{PMID:Casasnovas 2006:17100997}" "" "" "" "Germline" "" "" "0" "" "" "g.71224348T>A" "" "pathogenic" "" "0000436459" "0" "90" "X" "70444200" "70444200" "subst" "0" "00006" "GJB1_000255" "g.70444200C>T" "" "{PMID:Fairweather 1994:08162049}" "" "" "" "Germline" "" "" "0" "" "" "g.71224350C>T" "" "pathogenic" "" "0000436460" "0" "90" "X" "70443621" "70443621" "subst" "0" "00006" "GJB1_000256" "g.70443621C>G" "" "{PMID:Ressot 1996:08698335}" "" "" "" "Germline" "" "" "0" "" "" "g.71223771C>G" "" "pathogenic" "" "0000436461" "21" "90" "X" "70443621" "70443621" "subst" "0" "00006" "GJB1_000257" "g.70443621C>T" "" "{PMID:Ionasescu 1994:08004109}" "" "C126T" "" "Germline" "yes" "" "0" "" "" "g.71223771C>T" "" "pathogenic (dominant)" "" "0000436462" "21" "90" "X" "70444208" "70444208" "subst" "0" "00006" "GJB1_000258" "g.70444208T>A" "" "{PMID:Ionasescu 1994:08004109}" "" "T713A" "" "Germline" "yes" "" "0" "" "" "g.71224358T>A" "" "pathogenic (dominant)" "" "0000436463" "0" "90" "X" "70444212" "70444212" "subst" "0" "00006" "GJB1_000259" "g.70444212C>T" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224362C>T" "" "pathogenic" "" "0000436464" "0" "90" "X" "70444213" "70444213" "subst" "0" "00006" "GJB1_000260" "g.70444213G>A" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224363G>A" "" "pathogenic" "" "0000436465" "0" "90" "X" "70444215" "70444215" "subst" "0" "00006" "GJB1_000261" "g.70444215C>G" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224365C>G" "" "pathogenic" "" "0000436466" "0" "90" "X" "70444215" "70444215" "subst" "0" "00006" "GJB1_000262" "g.70444215C>T" "" "{PMID:Fairweather 1994:08162049}" "" "" "" "Germline" "" "" "0" "" "" "g.71224365C>T" "" "pathogenic" "" "0000436467" "0" "90" "X" "70443622" "70443622" "subst" "0" "00006" "GJB1_000263" "g.70443622G>A" "" "{PMID:Ionasescu 1995:07580242}" "" "" "" "Germline" "" "" "0" "" "" "g.71223772G>A" "" "pathogenic" "" "0000436468" "0" "90" "X" "70443622" "70443622" "subst" "0" "00006" "GJB1_000264" "g.70443622G>C" "" "{PMID:Ressot 1996:08698335}" "" "" "" "Germline" "" "" "0" "" "" "g.71223772G>C" "" "pathogenic" "" "0000436469" "0" "90" "X" "70444234" "70444234" "subst" "3.40834E-5" "00006" "GJB1_000265" "g.70444234A>G" "" "{PMID:Michell 2009:19448103}" "" "" "" "Germline" "" "" "0" "" "" "g.71224384A>G" "" "pathogenic" "" "0000436470" "0" "90" "X" "70444245" "70444245" "subst" "0.000120105" "00006" "GJB1_000266" "g.70444245C>T" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224395C>T" "" "pathogenic" "" "0000436471" "0" "90" "X" "70444246" "70444246" "subst" "1.7156E-5" "00006" "GJB1_000267" "g.70444246G>T" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224396G>T" "" "pathogenic" "" "0000436472" "0" "90" "X" "70443625" "70443625" "subst" "0" "00006" "GJB1_000268" "g.70443625T>C" "" "{PMID:Bort 1997:09187667}" "" "" "" "Germline" "" "" "0" "" "" "g.71223775T>C" "" "pathogenic" "" "0000436473" "0" "90" "X" "70443563" "70443563" "subst" "0" "00006" "GJB1_000269" "g.70443563C>G" "" "{PMID:Chen 2011:21607969}" "" "" "" "Germline" "" "" "0" "" "" "g.71223713C>G" "" "pathogenic" "" "0000436474" "0" "50" "X" "70444261" "70444261" "subst" "0.000699062" "00006" "GJB1_000270" "g.70444261T>G" "" "" "" "" "" "Germline" "" "rs104894825" "0" "" "" "g.71224411T>G" "" "VUS" "" "0000436475" "0" "90" "X" "70444261" "70444261" "subst" "0.000699062" "00006" "GJB1_000270" "g.70444261T>G" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71224411T>G" "" "pathogenic" "" "0000436476" "0" "90" "X" "70444270" "70444270" "subst" "0" "00006" "GJB1_000271" "g.70444270G>A" "" "{PMID:Nelis 1997:08990008}" "" "" "" "Germline" "" "" "0" "" "" "g.71224420G>A" "" "pathogenic" "" "0000436477" "0" "90" "X" "70444272" "70444272" "subst" "0" "00006" "GJB1_000272" "g.70444272C>A" "" "{PMID:Nicholson 1998:09818870}" "" "" "" "Germline" "" "" "0" "" "" "g.71224422C>A" "" "pathogenic" "" "0000436478" "0" "90" "X" "70443629" "70443629" "subst" "0" "00006" "GJB1_000273" "g.70443629G>T" "" "{PMID:Lee 2002:12185164}" "" "" "" "Germline" "" "" "0" "" "" "g.71223779G>T" "" "pathogenic" "" "0000436479" "0" "90" "X" "70443630" "70443630" "subst" "0" "00006" "GJB1_000274" "g.70443630C>T" "" "{PMID:Nelis 1997:08990008}" "" "" "" "Germline" "" "" "0" "" "" "g.71223780C>T" "" "pathogenic" "" "0000436480" "0" "90" "X" "70443631" "70443631" "subst" "0" "00006" "GJB1_000275" "g.70443631T>C" "" "{PMID:Mostacciuolo 2001:11438991}" "" "" "" "Germline" "" "" "0" "" "" "g.71223781T>C" "" "pathogenic" "" "0000436481" "0" "90" "X" "70444318" "70444318" "dup" "0" "00006" "GJB1_000276" "g.70444318dup" "" "{PMID:Nelis 1999:09888385}" "" "761dupA" "" "Germline" "" "" "0" "" "" "g.71224468dup" "" "pathogenic" "" "0000436482" "0" "90" "X" "70443634" "70443634" "subst" "0" "00006" "GJB1_000277" "g.70443634C>A" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.71223784C>A" "" "pathogenic" "" "0000436483" "0" "90" "X" "70443634" "70443634" "subst" "0" "00006" "GJB1_000278" "g.70443634C>G" "" "{PMID:Young 2001:11437164}" "" "" "" "Germline" "" "" "0" "" "" "g.71223784C>G" "" "pathogenic" "" "0000436484" "0" "90" "X" "70443634" "70443634" "subst" "0" "00006" "GJB1_000279" "g.70443634C>T" "" "{PMID:Yoshimura 1996:08889588}" "" "" "" "Germline" "" "" "0" "" "" "g.71223784C>T" "" "pathogenic" "" "0000436485" "0" "90" "X" "70444347" "70444347" "subst" "5.8556E-5" "00006" "GJB1_000280" "g.70444347C>T" "" "{PMID:Numakura 2002:12402337}" "" "" "" "Germline" "" "" "0" "" "" "g.71224497C>T" "" "pathogenic" "" "0000436486" "0" "90" "X" "70444348" "70444348" "subst" "0" "00006" "GJB1_000281" "g.70444348G>T" "" "{PMID:Mandich 2008:18379723}" "" "" "" "Germline" "" "" "0" "" "" "g.71224498G>T" "" "pathogenic" "" "0000436487" "0" "90" "X" "70443564" "70443564" "subst" "0" "00006" "GJB1_000282" "g.70443564T>C" "" "{PMID:Ionasescu 1996:08737658}" "" "" "" "Germline" "" "" "0" "" "" "g.71223714T>C" "" "pathogenic" "" "0000436488" "0" "90" "X" "70443564" "70443564" "subst" "0" "00006" "GJB1_000283" "g.70443564T>G" "" "{PMID:Luigetti 2011:21922480}" "" "" "" "Germline" "" "" "0" "" "" "g.71223714T>G" "" "pathogenic" "" "0000436489" "0" "90" "X" "70443637" "70443637" "subst" "0" "00006" "GJB1_000284" "g.70443637T>C" "" "{PMID:Absoud 2011:21309765}" "" "" "" "Germline" "" "" "0" "" "" "g.71223787T>C" "" "pathogenic" "" "0000436490" "0" "90" "X" "70444386" "70444399" "del" "0" "00006" "GJB1_000285" "g.70444386_70444399del" "" "{PMID:Miltenberger-Miltenyi 2009:19259128}" "" "829_842delAGCGACCGCTGCTC" "" "Germline" "" "" "0" "" "" "g.71224536_71224549del" "" "pathogenic" "" "0000436491" "0" "90" "X" "70444395" "70444395" "subst" "0" "00006" "GJB1_000286" "g.70444395T>G" "" "{PMID:Castro 1999:10234007}" "" "" "" "Germline" "" "" "0" "" "" "g.71224545T>G" "" "pathogenic" "" "0000436492" "0" "90" "X" "70443640" "70443640" "subst" "5.59888E-6" "00006" "GJB1_000287" "g.70443640T>A" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223790T>A" "" "pathogenic" "" "0000436493" "0" "90" "X" "70443640" "70443640" "subst" "0" "00006" "GJB1_000288" "g.70443640T>C" "" "{PMID:Bone 1997:09361298}" "" "" "" "Germline" "" "" "0" "" "" "g.71223790T>C" "" "pathogenic" "" "0000436494" "0" "90" "X" "70444398" "70444402" "del" "0" "00006" "GJB1_000289" "g.70444398_70444402del" "" "{PMID:Latour 1997:10732813}" "" "841_845delTCGGC" "" "Germline" "" "" "0" "" "" "g.71224548_71224552del" "" "pathogenic" "" "0000436495" "0" "90" "X" "70444399" "70444399" "subst" "0" "00006" "GJB1_000290" "g.70444399C>A" "" "{PMID:Nelis 1997:08990008}" "" "" "" "Germline" "" "" "0" "" "" "g.71224549C>A" "" "pathogenic" "" "0000436496" "0" "90" "X" "70443641" "70443641" "del" "0" "00006" "GJB1_000291" "g.70443641del" "" "{PMID:Mandich 2008:18379723}" "" "84delC" "" "Germline" "" "" "0" "" "" "g.71223791del" "" "pathogenic" "" "0000436497" "0" "90" "X" "70443646" "70443651" "dup" "0" "00006" "GJB1_000292" "g.70443646_70443651dup" "" "{PMID:Nelis 1999:09888385}" "" "89_94dupTCTTCA" "" "Germline" "" "" "0" "" "" "g.71223796_71223801dup" "" "pathogenic" "" "0000436498" "0" "90" "X" "70443646" "70443646" "subst" "0" "00006" "GJB1_000293" "g.70443646T>A" "" "{PMID:Bone 1995:07477983}" "" "" "" "Germline" "" "" "0" "" "" "g.71223796T>A" "" "pathogenic" "" "0000436499" "0" "90" "X" "70443646" "70443646" "subst" "0" "00006" "GJB1_000294" "g.70443646T>C" "" "{PMID:Nicholson 1998:09818870}" "" "" "" "Germline" "" "" "0" "" "" "g.71223796T>C" "" "pathogenic" "" "0000436500" "0" "90" "X" "70443565" "70443565" "subst" "0" "00006" "GJB1_000295" "g.70443565G>C" "" "{PMID:Ionasescu 1996:08737658}" "" "" "" "Germline" "" "" "0" "" "" "g.71223715G>C" "" "pathogenic" "" "0000436501" "0" "90" "X" "70443651" "70443651" "subst" "0" "00006" "GJB1_000296" "g.70443651A>G" "" "{PMID:Keckarevic-Markovic 2009:19691535}" "" "" "" "Germline" "" "" "0" "" "" "g.71223801A>G" "" "pathogenic" "" "0000436502" "21" "70" "X" "70443927" "70443927" "subst" "0" "01715" "GJB1_000297" "g.70443927A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224077A>G" "" "likely pathogenic" "" "0000439836" "3" "70" "X" "70444159" "70444160" "del" "0" "01164" "GJB1_001264" "g.70444159_70444160delinsCT" "" "" "" "602G>C;603C>T" "parents are heterzygous carriers; Changes p.Cys201 to Arg, Tyr, Asn and Phe are described as pathogenic" "Germline" "?" "" "0" "" "" "g.71224309_71224310delinsCT" "" "likely pathogenic" "ACMG" "0000454354" "0" "90" "X" "70443592" "70443592" "del" "0" "01807" "GJB1_001265" "g.70443592del" "" "" "" "35delG" "" "Unknown" "" "" "0" "" "" "g.71223742del" "" "pathogenic" "" "0000455071" "20" "90" "X" "70444113" "70444113" "subst" "0" "00006" "GJB1_000213" "g.70444113G>T" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "*43G>T Ionasescu 1994" "variant description unclear" "Germline" "" "" "0" "" "" "g.71224263G>T" "" "pathogenic" "" "0000455072" "1" "90" "X" "70443828" "70443828" "subst" "0" "00006" "GJB1_000088" "g.70443828G>C" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.71223978G>C" "" "pathogenic" "" "0000455073" "1" "90" "X" "70444070" "70444070" "subst" "0" "00006" "GJB1_001266" "g.70444070C>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pvs1, pm2" "Germline" "" "" "0" "" "" "g.71224220C>A" "" "likely pathogenic" "ACMG" "0000455074" "20" "90" "X" "70444113" "70444113" "subst" "0" "00006" "GJB1_000212" "g.70444113G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.71224263G>A" "" "pathogenic" "" "0000455075" "20" "90" "X" "70444113" "70444113" "subst" "0" "00006" "GJB1_000212" "g.70444113G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.71224263G>A" "" "pathogenic" "" "0000455076" "1" "90" "X" "70443614" "70443614" "dup" "0" "00006" "GJB1_001268" "g.70443614dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "57dupC" "" "Germline" "" "" "0" "ACMG pvs1, pm2" "" "g.71223764dup" "" "likely pathogenic" "ACMG" "0000455077" "20" "90" "X" "70444174" "70444174" "dup" "0" "00006" "GJB1_000243" "g.70444174dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "617dupT" "" "Germline" "" "" "0" "" "" "g.71224324dup" "" "pathogenic" "" "0000455078" "20" "90" "X" "70444179" "70444179" "subst" "0" "00006" "GJB1_000244" "g.70444179G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.71224329G>A" "" "pathogenic" "" "0000455079" "20" "90" "X" "70444245" "70444245" "subst" "0.000120105" "00006" "GJB1_000266" "g.70444245C>T" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.71224395C>T" "" "pathogenic" "" "0000455080" "20" "70" "X" "70444392" "70444392" "dup" "0" "00006" "GJB1_001267" "g.70444392dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "835dupC" "ACMG pvs1, pm2" "Germline" "" "" "0" "" "" "g.71224542dup" "" "likely pathogenic" "ACMG" "0000472278" "0" "70" "X" "70443643" "70443643" "subst" "0" "03239" "GJB1_001271" "g.70443643T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71223793T>C" "" "likely pathogenic" "" "0000472280" "0" "70" "X" "70443979" "70443979" "subst" "0" "03239" "GJB1_001272" "g.70443979T>C" "" "Merkler, ESHG2015, AbsPM10.14" "" "" "" "Germline" "" "" "0" "" "" "g.71224129T>C" "" "likely pathogenic" "" "0000472281" "0" "70" "X" "70443979" "70443979" "subst" "0" "03239" "GJB1_001272" "g.70443979T>C" "" "Merkler, ESHG2015, AbsPM10.14" "" "" "" "Germline" "" "" "0" "" "" "g.71224129T>C" "" "likely pathogenic (dominant)" "" "0000577242" "0" "30" "X" "70435214" "70435214" "subst" "0" "02330" "GJB1_001273" "g.70435214G>T" "" "" "" "GJB1(NM_001097642.3):c.-17+74G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71215364G>T" "" "likely benign" "" "0000577243" "0" "10" "X" "70439033" "70439038" "del" "0" "02330" "GJB1_001274" "g.70439033_70439038del" "" "" "" "GJB1(NM_001097642.3):c.-17+3893_-17+3898delATTATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71219183_71219188del" "" "benign" "" "0000577244" "0" "10" "X" "70439036" "70439038" "dup" "0" "02330" "GJB1_001275" "g.70439036_70439038dup" "" "" "" "GJB1(NM_001097642.3):c.-17+3894_-17+3896dupTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71219186_71219188dup" "" "benign" "" "0000577245" "0" "10" "X" "70442525" "70442525" "subst" "0" "02330" "GJB1_001276" "g.70442525G>A" "" "" "" "GJB1(NM_001097642.3):c.-16-1017G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71222675G>A" "" "benign" "" "0000577246" "0" "10" "X" "70442845" "70442845" "subst" "0" "02326" "GJB1_001025" "g.70442845G>A" "" "" "" "GJB1(NM_000166.6):c.-357G>A, GJB1(NM_001097642.2):c.-16-697G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71222995G>A" "" "benign" "" "0000577247" "0" "50" "X" "70442965" "70442965" "subst" "0" "02330" "GJB1_001277" "g.70442965G>A" "" "" "" "GJB1(NM_001097642.3):c.-16-577G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223115G>A" "" "VUS" "" "0000577248" "0" "50" "X" "70443021" "70443021" "subst" "0" "02330" "GJB1_001278" "g.70443021A>G" "" "" "" "GJB1(NM_001097642.3):c.-16-521A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223171A>G" "" "VUS" "" "0000577249" "0" "90" "X" "70443099" "70443099" "subst" "0" "02330" "GJB1_001279" "g.70443099C>T" "" "" "" "GJB1(NM_000166.6):c.-103C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223249C>T" "" "pathogenic" "" "0000577250" "0" "50" "X" "70443565" "70443565" "subst" "0" "02330" "GJB1_001280" "g.70443565G>A" "" "" "" "GJB1(NM_000166.6):c.8G>A (p.W3*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223715G>A" "" "VUS" "" "0000577251" "0" "90" "X" "70443601" "70443601" "subst" "0" "02330" "GJB1_000155" "g.70443601G>A" "" "" "" "GJB1(NM_000166.6):c.44G>A (p.R15Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223751G>A" "" "pathogenic" "" "0000577252" "0" "90" "X" "70443640" "70443640" "subst" "0" "02330" "GJB1_000288" "g.70443640T>C" "" "" "" "GJB1(NM_000166.6):c.83T>C (p.I28T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223790T>C" "" "pathogenic" "" "0000577253" "0" "90" "X" "70443646" "70443647" "ins" "0" "02330" "GJB1_001281" "g.70443646_70443647insTCTTCA" "" "" "" "GJB1(NM_000166.6):c.89_90insTCTTCA (p.I30_F31insLH)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223796_71223797insTCTTCA" "" "pathogenic" "" "0000577254" "0" "90" "X" "70443671" "70443672" "ins" "0" "02330" "GJB1_001282" "g.70443671_70443672insC" "" "" "" "GJB1(NM_000166.6):c.114_115insC (p.A39Rfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223821_71223822insC" "" "pathogenic" "" "0000577255" "0" "90" "X" "70443721" "70443722" "ins" "0" "02330" "GJB1_001283" "g.70443721_70443722insCACTCCAGCCTGGCTGCAACA" "" "" "" "GJB1(NM_000166.6):c.164_165insCACTCCAGCCTGGCTGCAACA (p.T55_L56ins7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223871_71223872insCACTCCAGCCTGGCTGCAACA" "" "pathogenic" "" "0000577256" "0" "90" "X" "70443728" "70443728" "subst" "0" "02330" "GJB1_000040" "g.70443728G>C" "" "" "" "GJB1(NM_000166.6):c.171G>C (p.Q57H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223878G>C" "" "pathogenic" "" "0000577257" "0" "90" "X" "70443744" "70443744" "subst" "0" "02327" "GJB1_000046" "g.70443744G>A" "" "" "" "GJB1(NM_000166.6):c.187G>A (p.V63I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223894G>A" "" "pathogenic" "" "0000577258" "0" "90" "X" "70443767" "70443767" "dup" "0" "02330" "GJB1_000059" "g.70443767dup" "" "" "" "GJB1(NM_000166.6):c.210dupC (p.I71Hfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223917dup" "" "pathogenic" "" "0000577259" "0" "50" "X" "70443772" "70443772" "subst" "0" "02330" "GJB1_001284" "g.70443772C>T" "" "" "" "GJB1(NM_000166.6):c.215C>T (p.S72F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223922C>T" "" "VUS" "" "0000577260" "0" "30" "X" "70443792" "70443792" "subst" "0.00235523" "02330" "GJB1_001018" "g.70443792C>T" "" "" "" "GJB1(NM_000166.5):c.235C>T (p.L79=), GJB1(NM_000166.6):c.235C>T (p.L79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223942C>T" "" "likely benign" "" "0000577261" "0" "90" "X" "70443814" "70443814" "subst" "0" "02330" "GJB1_000078" "g.70443814C>A" "" "" "" "GJB1(NM_000166.6):c.257C>A (p.T86N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223964C>A" "" "pathogenic" "" "0000577262" "0" "90" "X" "70443826" "70443826" "subst" "0" "02330" "GJB1_000085" "g.70443826T>A" "" "" "" "GJB1(NM_000166.6):c.269T>A (p.L90H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223976T>A" "" "pathogenic" "" "0000577263" "0" "90" "X" "70443839" "70443839" "subst" "0" "02330" "GJB1_001285" "g.70443839C>G" "" "" "" "GJB1(NM_000166.6):c.282C>G (p.H94Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223989C>G" "" "pathogenic" "" "0000577264" "0" "90" "X" "70443931" "70443931" "subst" "0" "02330" "GJB1_000117" "g.70443931T>A" "" "" "" "GJB1(NM_000166.6):c.374T>A (p.V125D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224081T>A" "" "pathogenic" "" "0000577265" "0" "90" "X" "70443939" "70443939" "subst" "0" "02330" "GJB1_000124" "g.70443939T>C" "" "" "" "GJB1(NM_000166.6):c.382T>C (p.S128P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224089T>C" "" "pathogenic" "" "0000577266" "0" "90" "X" "70443946" "70443946" "subst" "0" "02330" "GJB1_000127" "g.70443946C>T" "" "" "" "GJB1(NM_000166.6):c.389C>T (p.T130I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224096C>T" "" "pathogenic" "" "0000577267" "0" "90" "X" "70444099" "70444099" "subst" "0" "02330" "GJB1_000201" "g.70444099T>C" "" "" "" "GJB1(NM_000166.6):c.542T>C (p.V181A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224249T>C" "" "pathogenic" "" "0000577268" "0" "50" "X" "70444108" "70444108" "subst" "0" "02327" "GJB1_001286" "g.70444108C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224258C>A" "" "VUS" "" "0000577269" "0" "90" "X" "70444119" "70444120" "ins" "0" "02330" "GJB1_001287" "g.70444119_70444120insACCGTCTTA" "" "" "" "GJB1(NM_000166.6):c.562_563insACCGTCTTA (p.K187_T188insNRL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224269_71224270insACCGTCTTA" "" "pathogenic" "" "0000577270" "0" "90" "X" "70444128" "70444129" "ins" "0" "02330" "GJB1_001288" "g.70444128_70444129insACCGTCTTC" "" "" "" "GJB1(NM_000166.6):c.571_572insACCGTCTTC (p.T191delinsNRLP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224278_71224279insACCGTCTTC" "" "pathogenic" "" "0000577271" "0" "50" "X" "70444246" "70444246" "subst" "1.7156E-5" "02330" "GJB1_000267" "g.70444246G>T" "" "" "" "GJB1(NM_000166.5):c.689G>T (p.R230L), GJB1(NM_000166.6):c.689G>T (p.R230L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224396G>T" "" "VUS" "" "0000577272" "0" "50" "X" "70444246" "70444246" "subst" "1.7156E-5" "01943" "GJB1_000267" "g.70444246G>T" "" "" "" "GJB1(NM_000166.5):c.689G>T (p.R230L), GJB1(NM_000166.6):c.689G>T (p.R230L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224396G>T" "" "VUS" "" "0000577274" "0" "70" "X" "70444286" "70444286" "subst" "0" "02329" "GJB1_001289" "g.70444286C>A" "" "" "" "GJB1(NM_000166.6):c.729C>A (p.Y243*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224436C>A" "" "likely pathogenic" "" "0000577275" "0" "10" "X" "70444526" "70444526" "subst" "0" "02330" "GJB1_001290" "g.70444526C>T" "" "" "" "GJB1(NM_000166.6):c.*117C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224676C>T" "" "benign" "" "0000577276" "0" "10" "X" "70444572" "70444572" "subst" "0" "02330" "GJB1_001291" "g.70444572G>T" "" "" "" "GJB1(NM_000166.6):c.*163G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224722G>T" "" "benign" "" "0000595611" "0" "70" "X" "70444047" "70444047" "subst" "0" "01364" "GJB1_001020" "g.70444047C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224197C>T" "" "likely pathogenic" "" "0000595612" "0" "70" "X" "70443969" "70443969" "subst" "0" "01364" "GJB1_001160" "g.70443969A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224119A>G" "" "likely pathogenic" "" "0000595613" "0" "50" "X" "70443698" "70443700" "dup" "0" "01364" "GJB1_001270" "g.70443698_70443700dup" "" "" "" "141_143dupGAA" "" "Germline" "" "" "0" "" "" "g.71223848_71223850dup" "" "VUS" "" "0000595614" "0" "50" "X" "70443601" "70443602" "del" "0" "01364" "GJB1_001269" "g.70443601_70443602delinsTT" "" "" "" "70443601-7044360delinsTT" "variant not possible 70443601-7044360delinsTT" "Germline" "" "" "0" "" "" "g.71223751_71223752delinsTT" "" "VUS" "" "0000595615" "0" "70" "X" "70443834" "70443834" "subst" "0" "01364" "GJB1_000092" "g.70443834A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71223984A>G" "" "likely pathogenic" "" "0000595616" "0" "70" "X" "70444048" "70444048" "subst" "5.99089E-6" "01364" "GJB1_001010" "g.70444048G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224198G>A" "" "likely pathogenic" "" "0000595617" "0" "50" "X" "70444041" "70444041" "dup" "0" "01364" "GJB1_001292" "g.70444041dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224191dup" "" "VUS" "" "0000595618" "0" "70" "X" "70444097" "70444097" "subst" "0" "01364" "GJB1_000199" "g.70444097C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224247C>G" "" "likely pathogenic" "" "0000595619" "0" "70" "X" "70444086" "70444086" "subst" "0" "01364" "GJB1_001293" "g.70444086G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224236G>A" "" "likely pathogenic" "" "0000595620" "0" "70" "X" "70443844" "70443844" "subst" "0" "01364" "GJB1_001135" "g.70443844C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71223994C>T" "" "likely pathogenic" "" "0000595621" "0" "70" "X" "70443817" "70443817" "subst" "0" "01364" "GJB1_000082" "g.70443817C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71223967C>T" "" "likely pathogenic" "" "0000595622" "0" "50" "X" "70444200" "70444200" "subst" "0" "01364" "GJB1_001002" "g.70444200C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224350C>T" "" "VUS" "" "0000595623" "0" "50" "X" "70444072" "70444072" "subst" "0" "01364" "GJB1_000185" "g.70444072C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224222C>T" "" "VUS" "" "0000595624" "0" "50" "X" "70444108" "70444108" "subst" "0" "01364" "GJB1_000209" "g.70444108C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224258C>G" "" "VUS" "" "0000619842" "0" "10" "X" "70439033" "70439038" "dup" "0" "02330" "GJB1_001294" "g.70439033_70439038dup" "" "" "" "GJB1(NM_001097642.3):c.-17+3888_-17+3893dupTTATTA, GJB1(NM_001097642.3):c.-17+3891_-17+3896dupTTATTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71219183_71219188dup" "" "benign" "" "0000619843" "0" "70" "X" "70443708" "70443708" "subst" "0" "02330" "GJB1_001296" "g.70443708T>C" "" "" "" "GJB1(NM_000166.6):c.151T>C (p.F51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223858T>C" "" "likely pathogenic" "" "0000619844" "0" "70" "X" "70443708" "70443708" "subst" "0" "02326" "GJB1_001296" "g.70443708T>C" "" "" "" "GJB1(NM_000166.6):c.151T>C (p.F51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223858T>C" "" "likely pathogenic" "" "0000619845" "0" "30" "X" "70443792" "70443792" "subst" "0.00235523" "01943" "GJB1_001018" "g.70443792C>T" "" "" "" "GJB1(NM_000166.5):c.235C>T (p.L79=), GJB1(NM_000166.6):c.235C>T (p.L79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71223942C>T" "" "likely benign" "" "0000619846" "0" "30" "X" "70444061" "70444061" "subst" "0.000125831" "01943" "GJB1_001297" "g.70444061C>T" "" "" "" "GJB1(NM_000166.5):c.504C>T (p.C168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224211C>T" "" "likely benign" "" "0000619847" "0" "50" "X" "70444194" "70444194" "subst" "2.27692E-5" "01943" "GJB1_000253" "g.70444194A>G" "" "" "" "GJB1(NM_000166.5):c.637A>G (p.I213V), GJB1(NM_000166.6):c.637A>G (p.I213V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224344A>G" "" "VUS" "" "0000624702" "0" "10" "X" "70442510" "70442510" "subst" "0" "02330" "GJB1_001295" "g.70442510C>T" "" "" "" "GJB1(NM_001097642.3):c.-16-1032C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71222660C>T" "" "benign" "" "0000631943" "0" "90" "X" "70444065" "70444108" "dup" "0" "01807" "GJB1_001298" "g.70444065_70444108dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.71224215_71224258dup" "" "pathogenic" "" "0000632330" "0" "70" "X" "70443958" "70443958" "subst" "0" "01741" "GJB1_001299" "g.70443958C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71224108C>T" "" "likely pathogenic" "" "0000652948" "1" "90" "X" "70443673" "70443673" "subst" "0" "03575" "GJB1_000016" "g.70443673C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs786204095}" "Germline" "" "rs786204095" "0" "" "" "g.71223823C>T" "" "pathogenic" "" "0000652949" "1" "90" "X" "70443876" "70443876" "subst" "0" "03575" "GJB1_000107" "g.70443876C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863224973}" "Germline" "" "rs863224973" "0" "" "" "g.71224026C>T" "" "pathogenic" "" "0000659437" "0" "30" "X" "70443959" "70443959" "subst" "5.94704E-6" "02327" "GJB1_001300" "g.70443959C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224109C>G" "" "likely benign" "" "0000659438" "0" "50" "X" "70444365" "70444365" "subst" "0" "02325" "GJB1_001301" "g.70444365G>A" "" "" "" "GJB1(NM_000166.6):c.808G>A (p.G270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71224515G>A" "" "VUS" "" "0000664006" "0" "90" "X" "70443622" "70443622" "subst" "0" "00006" "GJB1_000263" "g.70443622G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.71223772G>A" "" "pathogenic (dominant)" "" "0000664007" "0" "90" "X" "70443972" "70443972" "subst" "0" "00006" "GJB1_000139" "g.70443972G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs104894812" "0" "" "" "g.71224122G>A" "" "pathogenic (dominant)" "" "0000664008" "0" "90" "X" "70444033" "70444033" "subst" "0" "00006" "GJB1_000169" "g.70444033G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.71224183G>A" "" "pathogenic (dominant)" "" "0000664009" "0" "90" "X" "70443099" "70443099" "subst" "0" "00006" "GJB1_001279" "g.70443099C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.71223249C>T" "" "pathogenic (dominant)" "" "0000664032" "0" "90" "X" "70443185" "70443185" "subst" "0" "00006" "GJB1_001304" "g.70443185G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.71223335G>A" "" "pathogenic (dominant)" "" "0000664067" "0" "70" "X" "70443681" "70443682" "del" "0" "00006" "GJB1_001015" "g.70443681_70443682del" "" "{PMID:Antoniadi 2015:26392352}" "" "c.124_125delAG" "" "Germline" "" "" "0" "" "" "g.71223831_71223832del" "" "pathogenic (dominant)" "" "0000664068" "0" "70" "X" "70444165" "70444166" "dup" "0" "00006" "GJB1_001305" "g.70444165_70444166dup" "" "{PMID:Antoniadi 2015:26392352}" "" "c.608_609dupTC" "" "Germline" "" "" "0" "" "" "g.71224315_71224316dup" "" "pathogenic (dominant)" "" "0000664069" "0" "70" "X" "70444395" "70444395" "subst" "0" "00006" "GJB1_001306" "g.70444395T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.71224545T>C" "" "pathogenic (dominant)" "" "0000664070" "0" "70" "X" "70437789" "70443153" "delins" "0" "00006" "GJB1_001302" "g.70437789_70443153delinsN[32]" "" "{PMID:Antoniadi 2015:26392352}" "" "c.-5413_-49delins32" "Segregates with disease, X-linked pedigree" "Germline" "" "" "0" "" "" "g.71217939_71223303delinsN[32]" "" "likely pathogenic (dominant)" "" "0000664071" "0" "70" "X" "70442658" "70444429" "del" "0" "00006" "GJB1_001303" "g.(?_70442658)_(70444429_?)del" "" "{PMID:Antoniadi 2015:26392352}" "" "c.(?_-544)_(*20_?)del" "Segregates with disease, X-linked pedigree" "Germline" "" "" "0" "" "" "g.(?_71222808)_(71224579_?)del" "" "likely pathogenic (dominant)" "" "0000664118" "0" "70" "X" "70437789" "70443153" "delins" "0" "00006" "GJB1_001302" "g.70437789_70443153delinsN[32]" "" "{PMID:Antoniadi 2015:26392352}" "" "c.-5413_-49delins32" "" "Germline" "" "" "0" "" "" "g.71217939_71223303delinsN[32]" "" "likely pathogenic (dominant)" "" "0000682612" "0" "30" "X" "70439030" "70439038" "dup" "0" "02330" "GJB1_001307" "g.70439030_70439038dup" "" "" "" "GJB1(NM_001097642.3):c.-17+3888_-17+3896dupTTATTATTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682613" "0" "30" "X" "70443792" "70443792" "subst" "0.00235523" "02326" "GJB1_001018" "g.70443792C>T" "" "" "" "GJB1(NM_000166.5):c.235C>T (p.L79=), GJB1(NM_000166.6):c.235C>T (p.L79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000685806" "11" "90" "X" "70444270" "70444270" "subst" "0" "00006" "GJB1_000271" "g.70444270G>A" "" "{PMID:McLaughlin 2010:20920668}" "" "Arg238His" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000693712" "0" "10" "X" "70444228" "70444228" "subst" "0.000330095" "02330" "GJB1_001308" "g.70444228G>A" "" "" "" "GJB1(NM_000166.6):c.671G>A (p.R224H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000704294" "20" "50" "X" "70444392" "70444392" "subst" "0" "01164" "GJB1_001309" "g.70444392C>T" "" "" "" "" "ACMG: PM1, PM2, PP3; class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000704295" "0" "90" "X" "70444066" "70444066" "subst" "0" "03239" "GJB1_001310" "g.70444066T>A" "" "Merkler, ESHG2015, AbsPM10.14" "" "Val170Asp" "" "Germline" "" "" "0" "" "" "g.71224216T>A" "" "pathogenic" "" "0000704296" "0" "90" "X" "70444066" "70444066" "subst" "0" "03239" "GJB1_001310" "g.70444066T>A" "" "Merkler, ESHG2015, AbsPM10.14" "" "Val170Asp" "" "Germline" "" "" "0" "" "" "g.71224216T>A" "" "pathogenic" "" "0000704297" "0" "90" "X" "70444066" "70444066" "subst" "0" "03239" "GJB1_001310" "g.70444066T>A" "" "Merkler, ESHG2015, AbsPM10.14" "" "Val170Asp" "" "Germline" "" "" "0" "" "" "g.71224216T>A" "" "pathogenic" "" "0000704298" "0" "90" "X" "70443880" "70443880" "subst" "0" "03239" "GJB1_000109" "g.70443880T>C" "" "Merkler, ESHG2015, AbsPM10.14" "" "Leu108Pro" "" "Germline" "" "" "0" "" "" "g.71224030T>C" "" "pathogenic" "" "0000704299" "0" "90" "X" "70443594" "70443594" "subst" "6.17773E-5" "03239" "GJB1_000120" "g.70443594G>A" "" "Merkler, ESHG2015, AbsPM10.14" "" "Val13Met" "" "Germline" "" "" "0" "" "" "g.71223744G>A" "" "pathogenic" "" "0000704300" "0" "90" "X" "70443702" "70443702" "subst" "0" "03239" "GJB1_000029" "g.70443702T>C" "" "Merkler, ESHG2015, AbsPM10.14" "" "Ser49Pro" "" "Germline" "" "" "0" "" "" "g.71223852T>C" "" "pathogenic" "" "0000704301" "0" "90" "X" "70444105" "70444105" "subst" "0" "03239" "GJB1_000207" "g.70444105G>A" "" "Merkler, ESHG2015, AbsPM10.14" "" "Arg183His" "" "Germline" "" "" "0" "" "" "g.71224255G>A" "" "pathogenic" "" "0000704302" "0" "90" "X" "70444086" "70444086" "subst" "0" "03239" "GJB1_001293" "g.70444086G>A" "" "Merkler, ESHG2015, AbsPM10.14" "" "Val177Met" "" "Germline" "" "" "0" "" "" "g.71224236G>A" "" "pathogenic" "" "0000729149" "0" "70" "X" "70443030" "70443030" "subst" "0" "02330" "GJB1_001311" "g.70443030T>G" "" "" "" "GJB1(NM_001097642.3):c.-16-512T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000729150" "0" "30" "X" "70443210" "70443210" "subst" "0" "02330" "GJB1_001312" "g.70443210C>T" "" "" "" "GJB1(NM_000166.6):c.-17+25C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729151" "0" "30" "X" "70443403" "70443403" "subst" "0" "02330" "GJB1_001313" "g.70443403A>G" "" "" "" "GJB1(NM_000166.6):c.-16-139A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729152" "0" "90" "X" "70443707" "70443710" "del" "0" "02330" "GJB1_001314" "g.70443707_70443710del" "" "" "" "GJB1(NM_000166.6):c.150_153delCTTC (p.F51Sfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000729153" "0" "30" "X" "70443722" "70443722" "subst" "5.6281E-6" "01943" "GJB1_001315" "g.70443722A>G" "" "" "" "GJB1(NM_000166.5):c.165A>G (p.T55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729154" "0" "70" "X" "70443838" "70443838" "subst" "0" "02329" "GJB1_001316" "g.70443838A>G" "" "" "" "GJB1(NM_000166.6):c.281A>G (p.H94R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000729155" "0" "70" "X" "70444296" "70444296" "subst" "0" "02329" "GJB1_001317" "g.70444296G>A" "" "" "" "GJB1(NM_000166.6):c.739G>A (p.E247K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000786872" "0" "90" "X" "70443600" "70443600" "subst" "0" "00006" "GJB1_000150" "g.70443600C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.71223750C>T" "" "pathogenic" "" "0000815872" "0" "70" "X" "70443721" "70443741" "dup" "0" "00006" "GJB1_001088" "g.70443721_70443741dup" "" "{PMID:Nair 2018:30293248}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.71223871_71223891dup" "" "likely pathogenic" "" "0000832375" "0" "90" "X" "70444162" "70444162" "subst" "0" "04209" "GJB1_001318" "g.70444162T>A" "" "{PMID:Liu 2020:31943912}" "" "" "ACMG PS3, PM2,PP1,PP2,PP3,PP4" "Germline" "yes" "" "0" "" "" "g.71224312T>A" "" "pathogenic (recessive)" "ACMG" "0000832482" "21" "90" "X" "70444162" "70444162" "subst" "0" "04209" "GJB1_001318" "g.70444162T>A" "" "{PMID:Liu 2020:31943912}" "" "" "ACMG PS3, PM2,PP1,PP2,PP3,PP4" "Germline" "yes" "" "0" "" "" "g.71224312T>A" "" "pathogenic (recessive)" "ACMG" "0000832483" "21" "90" "X" "70444162" "70444162" "subst" "0" "04209" "GJB1_001318" "g.70444162T>A" "" "{PMID:Liu 2020:31943912}" "" "" "ACMG PS3, PM2,PP1,PP2,PP3,PP4" "Germline" "yes" "" "0" "" "" "g.71224312T>A" "" "pathogenic (recessive)" "ACMG" "0000832484" "21" "90" "X" "70444162" "70444162" "subst" "0" "04209" "GJB1_001318" "g.70444162T>A" "" "{PMID:Liu 2020:31943912}" "" "" "ACMG PS3, PM2,PP1,PP2,PP3,PP4" "Germline" "yes" "" "0" "" "" "g.71224312T>A" "" "pathogenic (recessive)" "ACMG" "0000832485" "21" "90" "X" "70444162" "70444162" "subst" "0" "04209" "GJB1_001318" "g.70444162T>A" "" "{PMID:Liu 2020:31943912}" "" "" "ACMG PS3, PM2,PP1,PP2,PP3,PP4" "Germline" "yes" "" "0" "" "" "g.71224312T>A" "" "pathogenic (recessive)" "ACMG" "0000833031" "21" "90" "X" "70443562" "70443562" "subst" "0" "04217" "GJB1_001319" "g.70443562A>G" "" "{PMID:Lui 2017:27804109}" "" "" "" "Germline" "" "" "" "" "" "g.71223712A>G" "" "pathogenic" "" "0000833692" "21" "90" "X" "70443562" "70443562" "subst" "0" "04217" "GJB1_001319" "g.70443562A>G" "" "{PMID:Lui 2017:27804109}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71223712A>G" "" "pathogenic (dominant)" "" "0000833694" "21" "90" "X" "70443562" "70443562" "subst" "0" "04217" "GJB1_001319" "g.70443562A>G" "" "{PMID:Lui 2017:27804109}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71223712A>G" "" "pathogenic (dominant)" "" "0000833695" "21" "90" "X" "70443562" "70443562" "subst" "0" "04217" "GJB1_001319" "g.70443562A>G" "" "{PMID:Lui 2017:27804109}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71223712A>G" "" "pathogenic (dominant)" "" "0000833696" "21" "90" "X" "70443565" "70443565" "subst" "0" "04217" "GJB1_001280" "g.70443565G>A" "" "{PMID:Lui 2017:27804109}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71223715G>A" "" "pathogenic (dominant)" "ACMG" "0000833697" "11" "90" "X" "70443565" "70443565" "subst" "0" "04217" "GJB1_001280" "g.70443565G>A" "" "{PMID:Lui 2017:27804109}" "" "" "" "Germline" "" "" "0" "" "" "g.71223715G>A" "" "pathogenic (dominant)" "ACMG" "0000833825" "0" "90" "X" "70443799" "70443799" "subst" "0" "04217" "GJB1_001320" "g.70443799T>C" "" "{PMID:Lui 2017:27804109}" "" "" "" "Germline" "" "" "0" "" "" "g.71223949T>C" "" "pathogenic (dominant)" "ACMG" "0000833826" "0" "90" "X" "70443799" "70443799" "subst" "0" "04217" "GJB1_001320" "g.70443799T>C" "" "{PMID:Lui 2017:27804109}" "" "" "" "Germline" "" "" "0" "" "" "g.71223949T>C" "" "pathogenic (dominant)" "ACMG" "0000833827" "21" "90" "X" "70443826" "70443826" "subst" "0" "04217" "GJB1_001321" "g.70443826T>C" "" "{PMID:Lui 2017:27804109}" "" "" "" "Germline" "" "" "0" "" "" "g.71223976T>C" "" "pathogenic (dominant)" "ACMG" "0000833828" "0" "90" "X" "70443826" "70443826" "subst" "0" "04217" "GJB1_001321" "g.70443826T>C" "" "{PMID:Lui 2017:27804109}" "" "" "" "Germline" "" "" "0" "" "" "g.71223976T>C" "" "pathogenic (dominant)" "ACMG" "0000833829" "21" "90" "X" "70443874" "70443874" "subst" "0" "04217" "GJB1_001322" "g.70443874T>C" "" "{PMID:Lui 2017:27804109}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71224024T>C" "" "likely pathogenic" "ACMG" "0000833830" "21" "90" "X" "70443991" "70443991" "subst" "0" "04217" "GJB1_001323" "g.70443991T>G" "" "{PMID:Lui 2017:27804109}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71224141T>G" "" "likely pathogenic (dominant)" "ACMG" "0000833831" "0" "90" "X" "70443991" "70443991" "subst" "0" "04217" "GJB1_001323" "g.70443991T>G" "" "{PMID:Lui 2017:27804109}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71224141T>G" "" "likely pathogenic (dominant)" "ACMG" "0000845884" "0" "90" "X" "70443838" "70443844" "del" "0" "00636" "GJB1_001324" "g.70443838_70443844del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.71223988_71223994del" "" "pathogenic" "ACMG" "0000856761" "0" "50" "X" "70442962" "70442962" "subst" "0" "02330" "GJB1_001326" "g.70442962T>A" "" "" "" "GJB1(NM_001097642.3):c.-16-580T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856762" "0" "10" "X" "70443460" "70443460" "subst" "0" "02330" "GJB1_001327" "g.70443460G>C" "" "" "" "GJB1(NM_000166.6):c.-16-82G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856763" "0" "70" "X" "70443558" "70443558" "subst" "0" "02330" "GJB1_001328" "g.70443558A>G" "" "" "" "GJB1(NM_000166.6):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856764" "0" "30" "X" "70443948" "70443948" "subst" "0" "01943" "GJB1_001330" "g.70443948C>T" "" "" "" "GJB1(NM_000166.5):c.391C>T (p.L131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867531" "0" "10" "X" "70439030" "70439038" "del" "0" "02330" "GJB1_001325" "g.70439030_70439038del" "" "" "" "GJB1(NM_001097642.3):c.-17+3890_-17+3898delATTATTATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000867532" "0" "30" "X" "70443587" "70443587" "subst" "0.000764578" "01943" "GJB1_001329" "g.70443587C>T" "" "" "" "GJB1(NM_000166.5):c.30C>T (p.L10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867533" "0" "30" "X" "70444239" "70444239" "subst" "0" "01943" "GJB1_001331" "g.70444239C>T" "" "" "" "GJB1(NM_000166.5):c.682C>T (p.P228S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873471" "0" "70" "X" "70443565" "70443565" "subst" "0" "00000" "GJB1_001280" "g.70443565G>A" "123" "{PMID:Sun 2018:30076350}" "" "GJB1(NM_000166.5):c.8G>A(p.W3*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.71223715G>A" "" "likely pathogenic" "" "0000896342" "0" "10" "X" "70442929" "70442929" "subst" "0" "02330" "GJB1_001332" "g.70442929C>T" "" "" "" "GJB1(NM_001097642.3):c.-16-613C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896343" "0" "30" "X" "70442930" "70442930" "subst" "0" "02330" "GJB1_001333" "g.70442930G>A" "" "" "" "GJB1(NM_001097642.3):c.-16-612G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896344" "0" "50" "X" "70443580" "70443580" "subst" "0" "02327" "GJB1_000069" "g.70443580C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918178" "0" "90" "X" "70444105" "70444105" "subst" "0" "03779" "GJB1_000207" "g.70444105G>A" "" "" "" "" "" "Unknown" "" "rs1555937233" "0" "" "" "" "" "pathogenic" "" "0000931458" "0" "30" "X" "70442844" "70442844" "subst" "0" "02330" "GJB1_001334" "g.70442844C>T" "" "" "" "GJB1(NM_001097642.3):c.-16-698C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931459" "0" "30" "X" "70444718" "70444718" "subst" "0" "02330" "GJB1_001335" "g.70444718G>A" "" "" "" "GJB1(NM_000166.6):c.*309G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951792" "0" "10" "X" "70439027" "70439038" "del" "0" "02330" "GJB1_001336" "g.70439027_70439038del" "" "" "" "GJB1(NM_001097642.3):c.-17+3887_-17+3898delATTATTATTATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000971300" "0" "30" "X" "70443494" "70443494" "subst" "0" "02330" "GJB1_001337" "g.70443494T>C" "" "" "" "GJB1(NM_000166.6):c.-16-48T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971301" "0" "70" "X" "70443748" "70443748" "subst" "0" "02327" "GJB1_000049" "g.70443748G>T" "" "" "" "GJB1(NM_000166.6):c.191G>T (p.C64F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000971302" "0" "70" "X" "70443982" "70443982" "subst" "0" "02327" "GJB1_001166" "g.70443982G>A" "" "" "" "GJB1(NM_000166.6):c.425G>A (p.R142Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984843" "0" "70" "X" "70443672" "70443672" "subst" "0" "02330" "GJB1_001338" "g.70443672G>T" "" "" "" "GJB1(NM_000166.6):c.115G>T (p.A39S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984844" "0" "90" "X" "70443780" "70443780" "subst" "0" "02327" "GJB1_000061" "g.70443780C>T" "" "" "" "GJB1(NM_000166.6):c.223C>T (p.R75W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984845" "0" "50" "X" "70444083" "70444083" "subst" "0" "02330" "GJB1_001339" "g.70444083A>G" "" "" "" "GJB1(NM_000166.6):c.526A>G (p.T176A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985331" "0" "90" "X" "70443681" "70443682" "del" "0" "03779" "GJB1_001015" "g.70443681_70443682del" "" "" "" "" "" "CLASSIFICATION record" "" "rs1602348794" "0" "" "" "" "" "pathogenic" "" "0001011917" "0" "90" "X" "70443560" "70443560" "subst" "0" "00006" "GJB1_001340" "g.70443560G>A" "" "{PMID:Salinas 2020:33084218}" "" "NM_001097642:c.3G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.71223710G>A" "VCV000637622.1" "pathogenic" "" "0001016055" "0" "10" "X" "70444443" "70444443" "subst" "0.00451743" "02330" "GJB1_001341" "g.70444443C>A" "" "" "" "GJB1(NM_000166.6):c.*34C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027526" "0" "10" "X" "70444467" "70444467" "subst" "0" "02330" "GJB1_001003" "g.70444467C>T" "" "" "" "GJB1(NM_000166.6):c.*58C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001029693" "0" "70" "X" "70444099" "70444099" "subst" "0" "01164" "GJB1_000201" "g.70444099T>C" "" "PMID: 14627639, 14627639" "" "" "PM1, PM5, PP3_MOD, PS3_SUP, PS4_SUP, PM2_SUP, PP1; Other aminoacdid changes at p.Arg181 are described as pathogenic variants (p.Arg181Leu, Glu, Met)" "Germline" "yes" "" "" "" "" "g.71224249T>C" "VCV000637559" "pathogenic" "ACMG" "0001044478" "0" "30" "X" "70442836" "70442836" "subst" "0" "02330" "GJB1_001342" "g.70442836C>T" "" "" "" "GJB1(NM_001097642.3):c.-16-706C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044479" "0" "50" "X" "70443021" "70443021" "subst" "0" "02327" "GJB1_001278" "g.70443021A>G" "" "" "" "GJB1(NM_001097642.3):c.-16-521A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GJB1 ## Count = 719 "{{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}}" "0000062642" "00008536" "90" "124" "0" "125" "0" "c.124_125del" "r.(?)" "p.(Ser42Cysfs*4)" "" "0000062643" "00008536" "50" "1161" "0" "1161" "0" "c.*309G>C" "r.(=)" "p.(=)" "" "0000062644" "00008536" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" "" "0000062645" "00008536" "50" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Ala39Thr)" "" "0000062646" "00008536" "10" "-6" "0" "-6" "0" "c.-6G>A" "r.(=)" "p.(=)" "" "0000062647" "00008536" "10" "235" "0" "235" "0" "c.235C>T" "r.(=)" "p.(=)" "" "0000062648" "00008536" "10" "297" "0" "297" "0" "c.297A>G" "r.(=)" "p.(=)" "" "0000062649" "00008536" "90" "548" "0" "548" "0" "c.548G>C" "r.(?)" "p.(Arg183Pro)" "" "0000062650" "00008536" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Trp)" "" "0000062651" "00008536" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Val63Ile)" "" "0000062652" "00008536" "90" "541" "0" "541" "0" "c.541G>C" "r.(?)" "p.(Val181Leu)" "" "0000062653" "00008536" "90" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Val181Met)" "" "0000062654" "00008536" "90" "542" "0" "542" "0" "c.542T>C" "r.(?)" "p.(Val181Ala)" "" "0000062655" "00008536" "90" "559" "0" "559" "0" "c.559A>G" "r.(?)" "p.(Lys187Glu)" "" "0000062656" "00008536" "90" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Arg215Trp)" "" "0000062657" "00008536" "50" "626" "0" "626" "0" "c.626T>A" "r.(?)" "p.(Val209Glu)" "" "0000062658" "00008536" "90" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164Gln)" "" "0000062659" "00008536" "90" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Arg15Gln)" "" "0000062660" "00008536" "90" "7" "0" "7" "0" "c.7T>C" "r.(?)" "p.(Trp3Arg)" "" "0000062661" "00008536" "50" "910" "0" "910" "0" "c.*58C>T" "r.(=)" "p.(=)" "" "0000062662" "00008536" "50" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Asp178Asn)" "" "0000062663" "00008536" "90" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164Trp)" "" "0000247736" "00008536" "10" "825" "0" "825" "0" "c.825A>G" "r.(?)" "p.(Glu275=)" "" "0000247751" "00008536" "30" "345" "0" "345" "0" "c.345A>G" "r.(?)" "p.(Leu115=)" "" "0000247756" "00008536" "90" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Asp46Gly)" "" "0000247757" "00008536" "90" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(Glu102Gly)" "" "0000247758" "00008536" "90" "623" "0" "623" "0" "c.623A>G" "r.(?)" "p.(Glu208Gly)" "" "0000247760" "00008536" "90" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Glu47Gly)" "" "0000247761" "00008536" "90" "47" "0" "47" "0" "c.47A>C" "r.(?)" "p.(His16Pro)" "" "0000247762" "00008536" "90" "307" "0" "307" "0" "c.307A>G" "r.(?)" "p.(Lys103Glu)" "" "0000247763" "00008536" "90" "311" "0" "311" "0" "c.311A>C" "r.(?)" "p.(Lys104Thr)" "" "0000247764" "00008536" "90" "499" "0" "499" "0" "c.499A>G" "r.(?)" "p.(Lys167Glu)" "" "0000247765" "00008536" "90" "559" "0" "559" "0" "c.559A>G" "r.(?)" "p.(Lys187Glu)" "" "0000247766" "00008536" "90" "580" "0" "580" "0" "c.580A>G" "r.(?)" "p.(Met194Val)" "" "0000247767" "00008536" "90" "100" "0" "100" "0" "c.100A>G" "r.(?)" "p.(Met34Val)" "" "0000247768" "00008536" "70" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Met93Val)" "" "0000247769" "00008536" "90" "523" "0" "523" "0" "c.523A>G" "r.(?)" "p.(Asn175Asp)" "" "0000247770" "00008536" "90" "614" "0" "614" "0" "c.614A>T" "r.(?)" "p.(Asn205Ile)" "" "0000247771" "00008536" "90" "614" "0" "614" "0" "c.614A>G" "r.(?)" "p.(Asn205Ser)" "" "0000247772" "00008536" "90" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Gln80Arg)" "" "0000247773" "00008536" "90" "31" "0" "31" "0" "c.31A>G" "r.(?)" "p.(Ser11Gly)" "" "0000247774" "00008536" "90" "526" "0" "526" "0" "c.526A>C" "r.(?)" "p.(Thr176Pro)" "" "0000247775" "00008536" "90" "562" "0" "562" "0" "c.562A>G" "r.(?)" "p.(Thr188Ala)" "" "0000247776" "00008536" "90" "571" "0" "571" "0" "c.571A>G" "r.(?)" "p.(Thr191Ala)" "" "0000247777" "00008536" "90" "163" "0" "163" "0" "c.163A>G" "r.(?)" "p.(Thr55Ala)" "" "0000247778" "00008536" "90" "256" "0" "256" "0" "c.256A>G" "r.(?)" "p.(Thr86Ala)" "" "0000247779" "00008536" "90" "256" "0" "256" "0" "c.256A>T" "r.(?)" "p.(Thr86Ser)" "" "0000247780" "00008536" "90" "22" "0" "22" "0" "c.22A>C" "r.(?)" "p.(Thr8Pro)" "" "0000247782" "00008536" "90" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(Tyr135Cys)" "" "0000247783" "00008536" "90" "452" "0" "452" "0" "c.452A>C" "r.(?)" "p.(Tyr151Ser)" "" "0000247784" "00008536" "90" "470" "0" "470" "0" "c.470A>G" "r.(?)" "p.(Tyr157Cys)" "" "0000247785" "00008536" "90" "194" "0" "194" "0" "c.194A>G" "r.(?)" "p.(Tyr65Cys)" "" "0000247786" "00008536" "90" "20" "0" "20" "0" "c.20A>G" "r.(?)" "p.(Tyr7Cys)" "" "0000247791" "00008536" "50" "637" "0" "637" "0" "c.637A>G" "r.(?)" "p.(Ile213Val)" "" "0000247792" "00008536" "50" "88" "0" "88" "0" "c.88A>T" "r.(?)" "p.(Ile30Phe)" "" "0000247798" "00008536" "50" "412" "0" "412" "0" "c.412A>G" "r.(?)" "p.(Ser138Gly)" "" "0000277073" "00008536" "90" "-171" "0" "-171" "0" "c.-171G>C" "r.(?)" "p.(=)" "" "0000277074" "00008536" "90" "-173" "0" "-173" "0" "c.-173T>C" "r.(?)" "p.(=)" "" "0000277075" "00008536" "90" "-173" "0" "-173" "0" "c.-173T>G" "r.(?)" "p.(=)" "" "0000277076" "00008536" "10" "-357" "0" "-357" "0" "c.-357G>A" "r.(?)" "p.(=)" "" "0000277077" "00008536" "90" "-459" "0" "-459" "0" "c.-459C>T" "r.(?)" "p.(=)" "" "0000277078" "00008536" "10" "-17" "116" "-17" "116" "c.-17+116C>T" "r.(=)" "p.(=)" "" "0000277079" "00008536" "10" "-4166" "0" "-4164" "0" "c.-4166_-4164del" "r.(?)" "p.(=)" "" "0000277080" "00008536" "90" "101" "0" "101" "0" "c.101T>A" "r.(?)" "p.(Met34Lys)" "" "0000277081" "00008536" "90" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "" "0000277082" "00008536" "50" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Met34Ile)" "" "0000277083" "00008536" "90" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Val35Met)" "" "0000277084" "00008536" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Met)" "" "0000277085" "00008536" "90" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Val38Met)" "" "0000277086" "00008536" "90" "113" "0" "113" "0" "c.113T>C" "r.(?)" "p.(Val38Ala)" "" "0000277088" "00008536" "90" "115" "0" "115" "0" "c.115G>C" "r.(?)" "p.(Ala39Pro)" "" "0000277089" "00008536" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "0000277090" "00008536" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Ala40Thr)" "" "0000277091" "00008536" "90" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ala40Val)" "" "0000277092" "00008536" "90" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0000277093" "00008536" "90" "123" "0" "123" "0" "c.123G>C" "r.(?)" "p.(Glu41Asp)" "" "0000277094" "00008536" "90" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Val43Met)" "" "0000277095" "00008536" "50" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Trp44Ter)" "" "0000277096" "00008536" "90" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Trp44Leu)" "" "0000277097" "00008536" "90" "132" "0" "132" "0" "c.132G>A" "r.(?)" "p.(Trp44Ter)" "" "0000277098" "00008536" "90" "145" "0" "145" "0" "c.145T>C" "r.(?)" "p.(Ser49Pro)" "" "0000277099" "00008536" "90" "146" "0" "146" "0" "c.146C>A" "r.(?)" "p.(Ser49Tyr)" "" "0000277100" "00008536" "90" "148" "0" "148" "0" "c.148T>C" "r.(?)" "p.(Ser50Pro)" "" "0000277101" "00008536" "50" "153" "0" "153" "0" "c.153C>A" "r.(?)" "p.(Phe51Leu)" "" "0000277102" "00008536" "90" "158" "0" "158" "0" "c.158G>C" "r.(?)" "p.(Cys53Ser)" "" "0000277104" "00008536" "90" "164" "0" "164" "0" "c.164C>G" "r.(?)" "p.(Thr55Arg)" "" "0000277105" "00008536" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Thr55Ile)" "" "0000277106" "00008536" "90" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Leu56Phe)" "" "0000277107" "00008536" "90" "173" "0" "173" "0" "c.173C>G" "r.(?)" "p.(Pro58Arg)" "" "0000277108" "00008536" "90" "175" "0" "175" "0" "c.175G>C" "r.(?)" "p.(Gly59Arg)" "" "0000277109" "00008536" "90" "175" "0" "175" "0" "c.175G>T" "r.(?)" "p.(Gly59Cys)" "" "0000277110" "00008536" "50" "178" "0" "178" "0" "c.178T>A" "r.(?)" "p.(Cys60Ser)" "" "0000277111" "00008536" "50" "178" "0" "178" "0" "c.178T>C" "r.(?)" "p.(Cys60Arg)" "" "0000277112" "00008536" "90" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Cys60Phe)" "" "0000277113" "00008536" "90" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Val63Ile)" "" "0000277114" "00008536" "90" "191" "0" "191" "0" "c.191G>C" "r.(?)" "p.(Cys64Ser)" "" "0000277115" "00008536" "90" "191" "0" "191" "0" "c.191G>T" "r.(?)" "p.(Cys64Phe)" "" "0000277116" "00008536" "90" "193" "0" "193" "0" "c.193T>C" "r.(?)" "p.(Tyr65His)" "" "0000277117" "00008536" "90" "205" "0" "205" "0" "c.205T>C" "r.(?)" "p.(Phe69Leu)" "" "0000277118" "00008536" "90" "208" "0" "208" "0" "c.208C>G" "r.(?)" "p.(Pro70Ala)" "" "0000277119" "00008536" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Pro70Ser)" "" "0000277120" "00008536" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Trp)" "" "0000277121" "00008536" "90" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75Gln)" "" "0000277122" "00008536" "90" "224" "0" "224" "0" "c.224G>C" "r.(?)" "p.(Arg75Pro)" "" "0000277123" "00008536" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Trp77Ser)" "" "0000277124" "00008536" "50" "230" "0" "230" "0" "c.230G>T" "r.(?)" "p.(Trp77Leu)" "" "0000277125" "00008536" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000277126" "00008536" "90" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Gln80Ter)" "" "0000277127" "00008536" "90" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Leu81Phe)" "" "0000277128" "00008536" "50" "242" "0" "242" "0" "c.242T>A" "r.(?)" "p.(Leu81His)" "" "0000277129" "00008536" "90" "248" "0" "248" "0" "c.248T>C" "r.(?)" "p.(Leu83Pro)" "" "0000277130" "00008536" "90" "248" "0" "248" "0" "c.248T>G" "r.(?)" "p.(Leu83Arg)" "" "0000277131" "00008536" "90" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Val84Ile)" "" "0000277132" "00008536" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "" "0000277133" "00008536" "90" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Ser85Phe)" "" "0000277134" "00008536" "90" "259" "0" "259" "0" "c.259C>G" "r.(?)" "p.(Pro87Ala)" "" "0000277135" "00008536" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Pro87Ser)" "" "0000277136" "00008536" "90" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Pro87Leu)" "" "0000277137" "00008536" "30" "264" "0" "264" "0" "c.264T>A" "r.(?)" "p.(Ala88=)" "" "0000277138" "00008536" "70" "265" "0" "265" "0" "c.265C>G" "r.(?)" "p.(Leu89Val)" "" "0000277139" "00008536" "90" "266" "0" "266" "0" "c.266T>C" "r.(?)" "p.(Leu89Pro)" "" "0000277140" "00008536" "90" "268" "0" "268" "0" "c.268C>G" "r.(?)" "p.(Leu90Val)" "" "0000277141" "00008536" "90" "26" "0" "26" "0" "c.26T>G" "r.(?)" "p.(Leu9Trp)" "" "0000277142" "00008536" "90" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Val91Met)" "" "0000277143" "00008536" "50" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Val91Ala)" "" "0000277144" "00008536" "90" "27" "0" "27" "0" "c.27G>T" "r.(?)" "p.(Leu9Phe)" "" "0000277145" "00008536" "90" "280" "0" "280" "0" "c.280C>G" "r.(?)" "p.(His94Asp)" "" "0000277146" "00008536" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(His94Tyr)" "" "0000277147" "00008536" "90" "282" "0" "282" "0" "c.282C>A" "r.(?)" "p.(His94Gln)" "" "0000277148" "00008536" "90" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Val95Met)" "" "0000277149" "00008536" "50" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Ala96Val)" "" "0000277150" "00008536" "90" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(His100Tyr)" "" "0000277151" "00008536" "90" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Glu102Ter)" "" "0000277152" "00008536" "90" "308" "0" "308" "0" "c.308dup" "r.(?)" "p.(Lys104GlufsTer6)" "" "0000277153" "00008536" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107Trp)" "" "0000277154" "00008536" "90" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Leu108Pro)" "" "0000277155" "00008536" "90" "324" "0" "324" "0" "c.324dup" "r.(?)" "p.(Glu109Ter)" "" "0000277156" "00008536" "90" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Gly110Asp)" "" "0000277157" "00008536" "90" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "0000277158" "00008536" "90" "359" "0" "359" "0" "c.359T>A" "r.(?)" "p.(Val120Glu)" "" "0000277159" "00008536" "90" "372" "0" "372" "0" "c.372G>C" "r.(?)" "p.(Lys124Asn)" "" "0000277160" "00008536" "90" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Val13Met)" "" "0000277161" "00008536" "90" "37" "0" "37" "0" "c.37G>T" "r.(?)" "p.(Val13Leu)" "" "0000277162" "00008536" "90" "380" "0" "380" "0" "c.380T>G" "r.(?)" "p.(Ile127Ser)" "" "0000277163" "00008536" "90" "381" "0" "381" "0" "c.381C>G" "r.(?)" "p.(Ile127Met)" "" "0000277164" "00008536" "90" "383" "0" "383" "0" "c.383C>G" "r.(?)" "p.(Ser128Ter)" "" "0000277165" "00008536" "90" "392" "0" "392" "0" "c.392T>C" "r.(?)" "p.(Leu131Pro)" "" "0000277166" "00008536" "90" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Trp132Ter)" "" "0000277167" "00008536" "90" "397" "0" "397" "0" "c.397T>C" "r.(?)" "p.(Trp133Arg)" "" "0000277168" "00008536" "90" "399" "0" "399" "0" "c.399G>A" "r.(?)" "p.(Trp133Ter)" "" "0000277169" "00008536" "90" "399" "0" "399" "0" "c.399G>T" "r.(?)" "p.(Trp133Cys)" "" "0000277170" "00008536" "50" "401" "0" "401" "0" "c.401C>A" "r.(?)" "p.(Thr134Asn)" "" "0000277171" "00008536" "90" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Val136Ala)" "" "0000277172" "00008536" "90" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Ser138Asn)" "" "0000277173" "00008536" "90" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Val139Met)" "" "0000277174" "00008536" "90" "419" "0" "419" "0" "c.419T>A" "r.(?)" "p.(Val140Glu)" "" "0000277175" "00008536" "90" "423" "0" "423" "0" "c.423C>G" "r.(?)" "p.(Phe141Leu)" "" "0000277176" "00008536" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000277177" "00008536" "90" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142Gln)" "" "0000277178" "00008536" "90" "428" "0" "428" "0" "c.428T>C" "r.(?)" "p.(Leu143Pro)" "" "0000277179" "00008536" "90" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Glu146Lys)" "" "0000277180" "00008536" "90" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15Trp)" "" "0000277181" "00008536" "90" "440" "0" "440" "0" "c.440C>A" "r.(?)" "p.(Ala147Asp)" "" "0000277182" "00008536" "90" "445" "0" "445" "0" "c.445T>A" "r.(?)" "p.(Phe149Ile)" "" "0000277183" "00008536" "90" "445" "0" "445" "0" "c.445T>G" "r.(?)" "p.(Phe149Val)" "" "0000277184" "00008536" "90" "451" "0" "451" "0" "c.451T>C" "r.(?)" "p.(Tyr151His)" "" "0000277185" "00008536" "90" "455" "0" "455" "0" "c.455T>A" "r.(?)" "p.(Val152Asp)" "" "0000277186" "00008536" "90" "458" "0" "458" "0" "c.458T>C" "r.(?)" "p.(Phe153Ser)" "" "0000277187" "00008536" "90" "462" "0" "462" "0" "c.462T>A" "r.(?)" "p.(Tyr154Ter)" "" "0000277188" "00008536" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Leu156Phe)" "" "0000277189" "00008536" "90" "467" "0" "467" "0" "c.467T>G" "r.(?)" "p.(Leu156Arg)" "" "0000277190" "00008536" "90" "472" "0" "472" "0" "c.472C>G" "r.(?)" "p.(Pro158Ala)" "" "0000277191" "00008536" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Pro158Ser)" "" "0000277192" "00008536" "90" "473" "0" "473" "0" "c.473C>G" "r.(?)" "p.(Pro158Arg)" "" "0000277193" "00008536" "50" "473" "0" "473" "0" "c.473C>T" "r.(?)" "p.(Pro158Leu)" "" "0000277194" "00008536" "90" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Gly159Ser)" "" "0000277195" "00008536" "90" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Gly159Asp)" "" "0000277196" "00008536" "90" "478" "0" "478" "0" "c.478T>C" "r.(?)" "p.(Tyr160His)" "" "0000277197" "00008536" "90" "481" "0" "481" "0" "c.481G>C" "r.(?)" "p.(Ala161Pro)" "" "0000277198" "00008536" "90" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164Trp)" "" "0000277199" "00008536" "90" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164Gln)" "" "0000277200" "00008536" "90" "502" "0" "502" "0" "c.502T>C" "r.(?)" "p.(Cys168Arg)" "" "0000277201" "00008536" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Cys168Tyr)" "" "0000277202" "00008536" "50" "504" "0" "504" "0" "c.504C>A" "r.(?)" "p.(Cys168Ter)" "" "0000277203" "00008536" "90" "514" "0" "514" "0" "c.514C>G" "r.(?)" "p.(Pro172Ala)" "" "0000277204" "00008536" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Pro172Ser)" "" "0000277205" "00008536" "90" "515" "0" "515" "0" "c.515C>G" "r.(?)" "p.(Pro172Arg)" "" "0000277206" "00008536" "90" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Pro172Leu)" "" "0000277207" "00008536" "90" "517" "0" "517" "0" "c.517T>C" "r.(?)" "p.(Cys173Arg)" "" "0000277208" "00008536" "50" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Cys173Tyr)" "" "0000277209" "00008536" "90" "524" "0" "524" "0" "c.524dup" "r.(?)" "p.(Asn175LysfsTer68)" "" "0000277210" "00008536" "70" "530" "0" "530" "0" "c.530T>A" "r.(?)" "p.(Val177Glu)" "" "0000277211" "00008536" "70" "530" "0" "530" "0" "c.530T>C" "r.(?)" "p.(Val177Ala)" "" "0000277212" "00008536" "90" "532" "0" "532" "0" "c.532G>T" "r.(?)" "p.(Asp178Tyr)" "" "0000277213" "00008536" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Cys179Arg)" "" "0000277214" "00008536" "90" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Cys179Tyr)" "" "0000277215" "00008536" "90" "538" "0" "538" "0" "c.538T>C" "r.(?)" "p.(Phe180Leu)" "" "0000277216" "00008536" "90" "539" "0" "539" "0" "c.539T>C" "r.(?)" "p.(Phe180Ser)" "" "0000277217" "00008536" "90" "540" "0" "540" "0" "c.540C>G" "r.(?)" "p.(Phe180Leu)" "" "0000277218" "00008536" "90" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Val181Met)" "" "0000277219" "00008536" "90" "544" "0" "544" "0" "c.544T>A" "r.(?)" "p.(Ser182Thr)" "" "0000277220" "00008536" "90" "547" "0" "547" "0" "c.547C>A" "r.(?)" "p.(Arg183Ser)" "" "0000277221" "00008536" "90" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183Cys)" "" "0000277222" "00008536" "90" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183His)" "" "0000277223" "00008536" "90" "551" "0" "551" "0" "c.551C>G" "r.(?)" "p.(Pro184Arg)" "" "0000277224" "00008536" "90" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Pro184Leu)" "" "0000277225" "00008536" "90" "556" "0" "556" "0" "c.556dup" "r.(?)" "p.(Glu186GlyfsTer57)" "" "0000277226" "00008536" "90" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Glu186Lys)" "" "0000277227" "00008536" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Glu186Ter)" "" "0000277229" "00008536" "90" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Val189Ile)" "" "0000277230" "00008536" "90" "566" "0" "566" "0" "c.566T>G" "r.(?)" "p.(Val189Gly)" "" "0000277231" "00008536" "70" "574" "0" "574" "0" "c.574G>T" "r.(?)" "p.(Val192Phe)" "" "0000277232" "00008536" "90" "578" "0" "578" "0" "c.578T>G" "r.(?)" "p.(Phe193Cys)" "" "0000277233" "00008536" "90" "579" "0" "579" "0" "c.579C>G" "r.(?)" "p.(Phe193Leu)" "" "0000277234" "00008536" "90" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Ser198Phe)" "" "0000277235" "00008536" "90" "595" "0" "595" "0" "c.595G>C" "r.(?)" "p.(Gly199Arg)" "" "0000277236" "00008536" "90" "59" "0" "59" "0" "c.59T>A" "r.(?)" "p.(Ile20Asn)" "" "0000277237" "00008536" "90" "59" "0" "59" "0" "c.59T>G" "r.(?)" "p.(Ile20Ser)" "" "0000277238" "00008536" "90" "601" "0" "601" "0" "c.601T>C" "r.(?)" "p.(Cys201Arg)" "" "0000277239" "00008536" "90" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Cys201Tyr)" "" "0000277240" "00008536" "90" "602" "0" "602" "0" "c.602G>T" "r.(?)" "p.(Cys201Phe)" "" "0000277241" "00008536" "90" "608" "0" "608" "0" "c.608T>A" "r.(?)" "p.(Ile203Asn)" "" "0000277242" "00008536" "90" "610" "0" "610" "0" "c.610C>G" "r.(?)" "p.(Leu204Val)" "" "0000277243" "00008536" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Leu204Phe)" "" "0000277244" "00008536" "90" "617" "0" "617" "0" "c.617dup" "r.(?)" "p.(Ala207GlyfsTer36)" "" "0000277245" "00008536" "90" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Gly21Ser)" "" "0000277246" "00008536" "90" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Glu208Lys)" "" "0000277247" "00008536" "30" "627" "0" "627" "0" "c.627G>T" "r.(?)" "p.(Val209=)" "" "0000277248" "00008536" "90" "62" "0" "62" "0" "c.62G>A" "r.(?)" "p.(Gly21Asp)" "" "0000277249" "00008536" "90" "631" "0" "631" "0" "c.631T>C" "r.(?)" "p.(Tyr211His)" "" "0000277250" "00008536" "90" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Tyr211Ter)" "" "0000277251" "00008536" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Leu212Phe)" "" "0000277252" "00008536" "90" "641" "0" "641" "0" "c.641T>A" "r.(?)" "p.(Ile214Asn)" "" "0000277253" "00008536" "90" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Arg215Trp)" "" "0000277254" "00008536" "90" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Arg22Gly)" "" "0000277255" "00008536" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22Ter)" "" "0000277256" "00008536" "90" "651" "0" "651" "0" "c.651T>A" "r.(?)" "p.(Cys217Ter)" "" "0000277257" "00008536" "90" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219Cys)" "" "0000277258" "00008536" "90" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219His)" "" "0000277259" "00008536" "90" "658" "0" "658" "0" "c.658C>G" "r.(?)" "p.(Arg220Gly)" "" "0000277260" "00008536" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Ter)" "" "0000277261" "00008536" "90" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Arg22Gln)" "" "0000277262" "00008536" "90" "65" "0" "65" "0" "c.65G>C" "r.(?)" "p.(Arg22Pro)" "" "0000277263" "00008536" "90" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "" "0000277264" "00008536" "90" "68" "0" "68" "0" "c.68T>A" "r.(?)" "p.(Val23Glu)" "" "0000277265" "00008536" "90" "68" "0" "68" "0" "c.68T>C" "r.(?)" "p.(Val23Ala)" "" "0000277266" "00008536" "30" "704" "0" "704" "0" "c.704T>G" "r.(?)" "p.(Phe235Cys)" "" "0000277268" "00008536" "90" "715" "0" "715" "0" "c.715C>A" "r.(?)" "p.(Leu239Ile)" "" "0000277269" "00008536" "90" "72" "0" "72" "0" "c.72G>T" "r.(?)" "p.(Trp24Cys)" "" "0000277270" "00008536" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Leu25Phe)" "" "0000277271" "00008536" "90" "74" "0" "74" "0" "c.74T>C" "r.(?)" "p.(Leu25Pro)" "" "0000277272" "00008536" "90" "761" "0" "761" "0" "c.761dup" "r.(?)" "p.(Gln255AlafsTer21)" "" "0000277273" "00008536" "90" "77" "0" "77" "0" "c.77C>A" "r.(?)" "p.(Ser26Ter)" "" "0000277274" "00008536" "90" "77" "0" "77" "0" "c.77C>G" "r.(?)" "p.(Ser26Trp)" "" "0000277275" "00008536" "90" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Ser26Leu)" "" "0000277276" "00008536" "90" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" "" "0000277277" "00008536" "90" "7" "0" "7" "0" "c.7T>C" "r.(?)" "p.(Trp3Arg)" "" "0000277278" "00008536" "90" "838" "0" "838" "0" "c.838T>G" "r.(?)" "p.(Cys280Gly)" "" "0000277279" "00008536" "90" "83" "0" "83" "0" "c.83T>A" "r.(?)" "p.(Ile28Asn)" "" "0000277280" "00008536" "90" "842" "0" "842" "0" "c.842C>A" "r.(?)" "p.(Ser281Ter)" "" "0000277281" "00008536" "90" "85" "0" "85" "0" "c.85T>C" "r.(?)" "p.(Phe29Leu)" "" "0000277283" "00008536" "90" "89" "0" "89" "0" "c.89T>A" "r.(?)" "p.(Ile30Asn)" "" "0000277284" "00008536" "90" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Ile30Thr)" "" "0000277285" "00008536" "90" "8" "0" "8" "0" "c.8G>C" "r.(?)" "p.(Trp3Ser)" "" "0000277286" "00008536" "50" "90" "0" "90" "0" "c.90C>G" "r.(?)" "p.(Ile30Met)" "" "0000277287" "00008536" "90" "9" "0" "9" "0" "c.9G>A" "r.(?)" "p.(Trp3Ter)" "" "0000283369" "00008536" "70" "811" "0" "811" "0" "c.811G>T" "r.(?)" "p.(Ala271Ser)" "" "0000288348" "00008536" "30" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Val148Ile)" "" "0000436208" "00008536" "90" "100" "0" "100" "0" "c.100A>G" "r.(?)" "p.(Met34Val)" "2" "0000436209" "00008536" "90" "101" "0" "101" "0" "c.101T>A" "r.(?)" "p.(Met34Lys)" "2" "0000436210" "00008536" "90" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "2" "0000436211" "00008536" "90" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Val35Met)" "2" "0000436212" "00008536" "90" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Leu36Pro)" "2" "0000436213" "00008536" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Met)" "2" "0000436214" "00008536" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Val37Leu)" "2" "0000436215" "00008536" "90" "110" "0" "110" "0" "c.110del" "r.(?)" "p.(Val37Glyfs*47)" "2" "0000436216" "00008536" "90" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Val38Met)" "2" "0000436217" "00008536" "90" "113" "0" "113" "0" "c.113T>C" "r.(?)" "p.(Val38Ala)" "2" "0000436218" "00008536" "90" "115" "0" "115" "0" "c.115G>C" "r.(?)" "p.(Ala39Pro)" "2" "0000436219" "00008536" "90" "116" "0" "116" "0" "c.116C>G" "r.(?)" "p.(Ala39Gly)" "2" "0000436220" "00008536" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "2" "0000436221" "00008536" "90" "116" "0" "116" "0" "c.116del" "r.(?)" "p.(Ala39Valfs*45)" "2" "0000436222" "00008536" "90" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Ala40Thr)" "2" "0000436223" "00008536" "90" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ala40Val)" "2" "0000436224" "00008536" "90" "11" "0" "11" "0" "c.11C>A" "r.(?)" "p.(Thr4Lys)" "2" "0000436225" "00008536" "90" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "2" "0000436226" "00008536" "90" "123" "0" "123" "0" "c.123G>C" "r.(?)" "p.(Glu41Asp)" "2" "0000436227" "00008536" "90" "124" "0" "124" "0" "c.124A>T" "r.(?)" "p.(Ser42Cys)" "2" "0000436228" "00008536" "90" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Val43Met)" "2" "0000436229" "00008536" "90" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Trp44Leu)" "2" "0000436230" "00008536" "90" "132" "0" "132" "0" "c.132G>A" "r.(?)" "p.(Trp44*)" "2" "0000436231" "00008536" "90" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Asp46Gly)" "2" "0000436232" "00008536" "90" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Glu47Gly)" "2" "0000436233" "00008536" "90" "145" "0" "145" "0" "c.145T>C" "r.(?)" "p.(Ser49Pro)" "2" "0000436234" "00008536" "90" "146" "0" "146" "0" "c.146C>A" "r.(?)" "p.(Ser49Tyr)" "2" "0000436235" "00008536" "90" "148" "0" "148" "0" "c.148T>C" "r.(?)" "p.(Ser50Pro)" "2" "0000436236" "00008536" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Ile52Thrfs*32)" "2" "0000436237" "00008536" "90" "157" "0" "157" "0" "c.157T>A" "r.(?)" "p.(Cys53Ser)" "2" "0000436238" "00008536" "90" "158" "0" "158" "0" "c.158G>C" "r.(?)" "p.(Cys53Ser)" "2" "0000436239" "00008536" "90" "160" "0" "160" "0" "c.160A>C" "r.(?)" "p.(Asn54His)" "2" "0000436240" "00008536" "90" "163" "0" "163" "0" "c.163A>G" "r.(?)" "p.(Thr55Ala)" "2" "0000436241" "00008536" "90" "164" "0" "164" "0" "c.164C>G" "r.(?)" "p.(Thr55Arg)" "2" "0000436242" "00008536" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Thr55Ile)" "2" "0000436243" "00008536" "90" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Leu56Phe)" "2" "0000436244" "00008536" "90" "171" "0" "171" "0" "c.171G>C" "r.(?)" "p.(Gln57His)" "2" "0000436245" "00008536" "90" "173" "0" "173" "0" "c.173C>G" "r.(?)" "p.(Pro58Arg)" "2" "0000436246" "00008536" "90" "175" "0" "175" "0" "c.175G>C" "r.(?)" "p.(Gly59Arg)" "2" "0000436247" "00008536" "90" "175" "0" "175" "0" "c.175G>T" "r.(?)" "p.(Gly59Cys)" "2" "0000436248" "00008536" "90" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Cys60Phe)" "2" "0000436249" "00008536" "90" "186" "0" "186" "0" "c.186C>G" "r.(?)" "p.(Ser62Arg)" "2" "0000436250" "00008536" "90" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Val63Ile)" "2" "0000436251" "00008536" "90" "187" "0" "187" "0" "c.187G>T" "r.(?)" "p.(Val63Phe)" "2" "0000436252" "00008536" "90" "191" "0" "191" "0" "c.191G>C" "r.(?)" "p.(Cys64Ser)" "2" "0000436253" "00008536" "90" "191" "0" "191" "0" "c.191G>T" "r.(?)" "p.(Cys64Phe)" "2" "0000436254" "00008536" "90" "194" "0" "194" "0" "c.194A>G" "r.(?)" "p.(Tyr65Cys)" "2" "0000436255" "00008536" "90" "196" "0" "198" "0" "c.196_198del" "r.(?)" "p.(Asp66del)" "2" "0000436256" "00008536" "90" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Asp66Asn)" "2" "0000436257" "00008536" "90" "20" "0" "22" "0" "c.20_22del" "r.(?)" "p.(Tyr7_Thr8delinsSer)" "2" "0000436258" "00008536" "90" "205" "0" "205" "0" "c.205T>C" "r.(?)" "p.(Phe69Leu)" "2" "0000436259" "00008536" "90" "208" "0" "209" "0" "c.208_209delinsTT" "r.(?)" "p.(Pro70Phe)" "2" "0000436260" "00008536" "90" "208" "0" "208" "0" "c.208C>G" "r.(?)" "p.(Pro70Ala)" "2" "0000436261" "00008536" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Pro70Ser)" "2" "0000436262" "00008536" "90" "20" "0" "20" "0" "c.20A>G" "r.(?)" "p.(Tyr7Cys)" "2" "0000436263" "00008536" "90" "210" "0" "210" "0" "c.210dup" "r.(?)" "p.(Ile71Hisfs*39)" "2" "0000436264" "00008536" "90" "217" "0" "217" "0" "c.217del" "r.(?)" "p.(His73Metfs*11)" "2" "0000436265" "00008536" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Trp)" "2" "0000436266" "00008536" "90" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75Gln)" "2" "0000436267" "00008536" "90" "224" "0" "224" "0" "c.224G>C" "r.(?)" "p.(Arg75Pro)" "2" "0000436268" "00008536" "90" "225" "0" "225" "0" "c.225del" "r.(?)" "p.(Leu76Cysfs*8)" "2" "0000436269" "00008536" "90" "22" "0" "22" "0" "c.22A>C" "r.(?)" "p.(Thr8Pro)" "2" "0000436270" "00008536" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Trp77Ser)" "2" "0000436271" "00008536" "90" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Gln80*)" "2" "0000436272" "00008536" "90" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Gln80Arg)" "2" "0000436273" "00008536" "90" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Thr8Ile)" "2" "0000436274" "00008536" "90" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Leu81Phe)" "2" "0000436275" "00008536" "90" "248" "0" "257" "0" "c.248_257del" "r.(?)" "p.(Leu83Profs*16)" "2" "0000436276" "00008536" "90" "248" "0" "248" "0" "c.248T>C" "r.(?)" "p.(Leu83Pro)" "2" "0000436277" "00008536" "90" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Val84Ile)" "2" "0000436278" "00008536" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "2" "0000436279" "00008536" "90" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Ser85Phe)" "2" "0000436280" "00008536" "90" "256" "0" "256" "0" "c.256A>G" "r.(?)" "p.(Thr86Ala)" "2" "0000436281" "00008536" "90" "256" "0" "256" "0" "c.256A>T" "r.(?)" "p.(Thr86Ser)" "2" "0000436282" "00008536" "90" "257" "0" "257" "0" "c.257C>A" "r.(?)" "p.(Thr86Asn)" "2" "0000436283" "00008536" "90" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Thr86Ile)" "2" "0000436284" "00008536" "90" "259" "0" "259" "0" "c.259C>G" "r.(?)" "p.(Pro87Ala)" "2" "0000436285" "00008536" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Pro87Ser)" "2" "0000436286" "00008536" "90" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Pro87Leu)" "2" "0000436287" "00008536" "90" "266" "0" "266" "0" "c.266T>C" "r.(?)" "p.(Leu89Pro)" "2" "0000436288" "00008536" "90" "268" "0" "268" "0" "c.268C>G" "r.(?)" "p.(Leu90Val)" "2" "0000436289" "00008536" "90" "269" "0" "269" "0" "c.269T>A" "r.(?)" "p.(Leu90His)" "2" "0000436290" "00008536" "90" "26" "0" "26" "0" "c.26T>G" "r.(?)" "p.(Leu9Trp)" "2" "0000436291" "00008536" "90" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Val91Met)" "2" "0000436292" "00008536" "90" "271" "0" "271" "0" "c.271G>C" "r.(?)" "p.(Val91Leu)" "2" "0000436293" "00008536" "90" "273" "0" "274" "0" "c.273_274del" "r.(?)" "p.(Ala92Hisfs*17)" "2" "0000436294" "00008536" "90" "275" "0" "276" "0" "c.275_276del" "r.(?)" "p.(Ala92Aspfs*17)" "2" "0000436295" "00008536" "90" "277" "0" "278" "0" "c.277_278del" "r.(?)" 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"p.(Glu186Lys)" "2" "0000436417" "00008536" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Glu186*)" "2" "0000436418" "00008536" "90" "557" "0" "557" "0" "c.557A>T" "r.(?)" "p.(Glu186Val)" "2" "0000436419" "00008536" "90" "559" "0" "559" "0" "c.559A>G" "r.(?)" "p.(Lys187Glu)" "2" "0000436420" "00008536" "90" "561" "0" "569" "0" "c.561_569dup" "r.(?)" "p.(Val189_Phe190insLeuThrVal)" "2" "0000436421" "00008536" "90" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Val189Ile)" "2" "0000436422" "00008536" "90" "566" "0" "566" "0" "c.566T>G" "r.(?)" "p.(Val189Gly)" "2" "0000436423" "00008536" "90" "571" "0" "571" "0" "c.571A>G" "r.(?)" "p.(Thr191Ala)" "2" "0000436424" "00008536" "90" "571" "0" "571" "0" "c.571dup" "r.(?)" "p.(Thr191Asnfs*52)" "2" "0000436425" "00008536" "90" "572" "0" "580" "0" "c.572_580del" "r.(?)" "p.(Thr191_Phe193del)" "2" "0000436426" "00008536" "90" "572" "0" "580" "0" "c.572_580dup" "r.(?)" "p.(Thr191_Phe193dup)" "2" "0000436427" "00008536" "90" "573" "0" "574" "0" "c.573_574insTCA" "r.(?)" "p.(Thr191_Val192insSer)" "2" "0000436428" "00008536" "90" "573" "0" "581" "0" "c.573_581del" "r.(?)" "p.(Val192_Met194del)" "2" "0000436429" "00008536" "90" "574" "0" "574" "0" "c.574G>T" "r.(?)" "p.(Val192Phe)" "2" "0000436430" "00008536" "90" "578" "0" "578" "0" "c.578T>G" "r.(?)" "p.(Phe193Cys)" "2" "0000436431" "00008536" "90" "579" "0" "579" "0" "c.579C>G" "r.(?)" "p.(Phe193Leu)" "2" "0000436432" "00008536" "90" "580" "0" "580" "0" "c.580A>G" "r.(?)" "p.(Met194Val)" "2" "0000436433" "00008536" "90" "59" "0" "61" "0" "c.59_61delinsATA" "r.(?)" "p.(Ile20_Gly21delinsAsnSer)" "2" "0000436434" "00008536" "90" "592" "0" "592" "0" "c.592T>G" "r.(?)" "p.(Ser198Ala)" "2" "0000436435" "00008536" "90" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Ser198Phe)" "2" "0000436436" "00008536" "90" "595" "0" "595" "0" "c.595G>C" "r.(?)" "p.(Gly199Arg)" "2" "0000436437" "00008536" "90" "59" "0" "59" "0" "c.59T>G" "r.(?)" "p.(Ile20Ser)" "2" "0000436438" "00008536" "90" "601" "0" "601" "0" "c.601T>C" "r.(?)" "p.(Cys201Arg)" "2" "0000436439" "00008536" "90" "601" "0" "601" "0" "c.601T>G" "r.(?)" "p.(Cys201Gly)" "2" "0000436440" "00008536" "90" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Cys201Tyr)" "2" "0000436441" "00008536" "90" "602" "0" "602" "0" "c.602G>T" "r.(?)" "p.(Cys201Phe)" "2" "0000436442" "00008536" "90" "608" "0" "608" "0" "c.608T>A" "r.(?)" "p.(Ile203Asn)" "2" "0000436443" "00008536" "90" "610" "0" "610" "0" "c.610C>G" "r.(?)" "p.(Leu204Val)" "2" "0000436444" "00008536" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Leu204Phe)" "2" "0000436445" "00008536" "90" "614" "0" "614" "0" "c.614A>G" "r.(?)" "p.(Asn205Ser)" "2" "0000436446" "00008536" "90" "614" "0" "614" "0" "c.614A>T" "r.(?)" "p.(Asn205Ile)" "2" "0000436447" "00008536" "90" "617" "0" "617" "0" "c.617dup" "r.(?)" "p.(Ala207Glyfs*36)" "2" "0000436448" "00008536" "90" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Glu208Lys)" "2" "0000436449" "00008536" "90" "623" "0" "623" "0" "c.623A>G" "r.(?)" "p.(Glu208Gly)" "2" "0000436450" "00008536" "90" "628" "0" "630" "0" "c.628_630del" "r.(?)" "p.(Val210del)" "2" "0000436451" "00008536" "90" "62" "0" "62" "0" "c.62G>A" "r.(?)" "p.(Gly21Asp)" "2" "0000436452" "00008536" "90" "631" "0" "631" "0" "c.631T>C" "r.(?)" "p.(Tyr211His)" "2" "0000436453" "00008536" "90" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Tyr211*)" "2" "0000436454" "00008536" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Leu212Phe)" "2" "0000436455" "00008536" "90" "634" "0" "634" "0" "c.634del" "r.(?)" "p.(Leu212Serfs*41)" "2" "0000436456" "00008536" "90" "637" "0" "640" "0" "c.637_640delinsC" "r.(?)" "p.(Ile213_Ile214delinsLeu)" "2" "0000436457" "00008536" "90" "637" "0" "637" "0" "c.637A>G" "r.(?)" "p.(Ile213Val)" "2" "0000436458" "00008536" "90" "641" "0" "641" "0" "c.641T>A" "r.(?)" "p.(Ile214Asn)" "2" "0000436459" "00008536" "90" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Arg215Trp)" "2" "0000436460" "00008536" "90" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Arg22Gly)" "2" "0000436461" "00008536" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" "2" "0000436462" "00008536" "90" "651" "0" "651" "0" "c.651T>A" "r.(?)" "p.(Cys217*)" "2" "0000436463" "00008536" "90" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219Cys)" "2" "0000436464" "00008536" "90" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219His)" "2" "0000436465" "00008536" "90" "658" "0" "658" "0" "c.658C>G" "r.(?)" "p.(Arg220Gly)" "2" "0000436466" "00008536" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220*)" "2" "0000436467" "00008536" "90" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Arg22Gln)" "2" "0000436468" "00008536" "90" "65" "0" "65" "0" "c.65G>C" "r.(?)" "p.(Arg22Pro)" "2" "0000436469" "00008536" "90" "677" "0" "677" "0" "c.677A>G" "r.(?)" "p.(Asn226Ser)" "2" "0000436470" "00008536" "90" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "2" "0000436471" "00008536" "90" "689" "0" "689" "0" "c.689G>T" "r.(?)" "p.(Arg230Leu)" "2" "0000436472" "00008536" "90" "68" "0" "68" "0" "c.68T>C" "r.(?)" "p.(Val23Ala)" "2" "0000436473" "00008536" "90" "6" "0" "6" "0" "c.6C>G" "r.(?)" "p.(Asn2Lys)" "2" "0000436474" "00008536" "50" "704" "0" "704" "0" "c.704T>G" "r.(?)" "p.(Phe235Cys)" "2" "0000436475" "00008536" "90" "704" "0" "704" "0" "c.704T>G" "r.(?)" "p.(Phe235Cys)" "2" "0000436476" "00008536" "90" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Arg238His)" "2" "0000436477" "00008536" "90" "715" "0" "715" "0" "c.715C>A" "r.(?)" "p.(Leu239Ile)" "2" "0000436478" "00008536" "90" "72" "0" "72" "0" "c.72G>T" "r.(?)" "p.(Trp24Cys)" "2" "0000436479" "00008536" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Leu25Phe)" "2" "0000436480" "00008536" "90" "74" "0" "74" "0" "c.74T>C" "r.(?)" "p.(Leu25Pro)" "2" "0000436481" "00008536" "90" "761" "0" "761" "0" "c.761dup" "r.(?)" "p.(Gln255Alafs*21)" "2" "0000436482" "00008536" "90" "77" "0" "77" "0" "c.77C>A" "r.(?)" "p.(Ser26*)" "2" "0000436483" "00008536" "90" "77" "0" "77" "0" "c.77C>G" "r.(?)" "p.(Ser26Trp)" "2" "0000436484" "00008536" "90" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Ser26Leu)" "2" "0000436485" "00008536" "90" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" "2" "0000436486" "00008536" "90" "791" "0" "791" "0" "c.791G>T" "r.(?)" "p.(Arg264Leu)" "2" "0000436487" "00008536" "90" "7" "0" "7" "0" "c.7T>C" "r.(?)" "p.(Trp3Arg)" "2" "0000436488" "00008536" "90" "7" "0" "7" "0" "c.7T>G" "r.(?)" "p.(Trp3Gly)" "2" "0000436489" "00008536" "90" "80" "0" "80" "0" "c.80T>C" "r.(?)" "p.(Val27Ala)" "2" "0000436490" "00008536" "90" "829" "0" "842" "0" "c.829_842del" "r.(?)" "p.(Ser277Glyfs*129)" "2" "0000436491" "00008536" "90" "838" "0" "838" "0" "c.838T>G" "r.(?)" "p.(Cys280Gly)" "2" "0000436492" "00008536" "90" "83" "0" "83" "0" "c.83T>A" "r.(?)" "p.(Ile28Asn)" "2" "0000436493" "00008536" "90" "83" "0" "83" "0" "c.83T>C" "r.(?)" "p.(Ile28Thr)" "2" "0000436494" "00008536" "90" "841" "0" "845" "0" "c.841_845del" "r.(?)" "p.(Ser281Leufs*128)" "2" "0000436495" "00008536" "90" "842" "0" "842" "0" "c.842C>A" "r.(?)" "p.(Ser281*)" "2" "0000436496" "00008536" "90" "84" "0" "84" "0" "c.84del" "r.(?)" "p.(Phe29Serfs*55)" "2" "0000436497" "00008536" "90" "89" "0" "94" "0" "c.89_94dup" "r.(?)" "p.(Ile30_Phe31dup)" "2" "0000436498" "00008536" "90" "89" "0" "89" "0" "c.89T>A" "r.(?)" "p.(Ile30Asn)" "2" "0000436499" "00008536" "90" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Ile30Thr)" "2" "0000436500" "00008536" "90" "8" "0" "8" "0" "c.8G>C" "r.(?)" "p.(Trp3Ser)" "2" "0000436501" "00008536" "90" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Arg32Gly)" "2" "0000436502" "00008536" "70" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Lys124Glu)" "2" "0000439836" "00008536" "70" "602" "0" "603" "0" "c.602_603delinsCT" "r.(?)" "p.(Cys201Ser)" "" "0000454354" "00008536" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Alafs*2)" "" "0000455071" "00008536" "90" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Glu186*)" "" "0000455072" "00008536" "90" "271" "0" "271" "0" "c.271G>C" "r.(?)" "p.(Val91Leu)" "" "0000455073" "00008536" "90" "513" "0" "513" "0" "c.513C>A" "r.(?)" "p.(Tyr171*)" "" "0000455074" "00008536" "90" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Glu186Lys)" "" "0000455075" "00008536" "90" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Glu186Lys)" "" "0000455076" "00008536" "90" "57" "0" "57" "0" "c.57dup" "r.(?)" "p.(Ile20Hisfs*27)" "" "0000455077" "00008536" "90" "617" "0" "617" "0" "c.617dup" "r.(?)" "p.(Ala207Glyfs*36)" "" "0000455078" "00008536" "90" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Glu208Lys)" "" "0000455079" "00008536" "90" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "" "0000455080" "00008536" "70" "835" "0" "835" "0" "c.835dup" "r.(?)" "p.(Arg279Profs*132)" "" "0000472278" "00008536" "70" "86" "0" "86" "0" "c.86T>C" "r.(?)" "p.(Phe29Ser)" "2" "0000472280" "00008536" "70" "422" "0" "422" "0" "c.422T>C" "r.(?)" "p.(Phe141Ser)" "2" "0000472281" "00008536" "70" "422" "0" "422" "0" "c.422T>C" "r.(?)" "p.(Phe141Ser)" "2" "0000577242" "00008536" "30" "-7988" "0" "-7988" "0" "c.-7988G>T" "r.(?)" "p.(=)" "" "0000577243" "00008536" "10" "-4169" "0" "-4164" "0" "c.-4169_-4164del" "r.(?)" "p.(=)" "" "0000577244" "00008536" "10" "-4166" "0" "-4164" "0" "c.-4166_-4164dup" "r.(?)" "p.(=)" "" "0000577245" "00008536" "10" "-677" "0" "-677" "0" "c.-677G>A" "r.(?)" "p.(=)" "" "0000577246" "00008536" "10" "-357" "0" "-357" "0" "c.-357G>A" "r.(?)" "p.(=)" "" "0000577247" "00008536" "50" "-237" "0" "-237" "0" "c.-237G>A" "r.(?)" "p.(=)" "" "0000577248" "00008536" "50" "-181" "0" "-181" "0" "c.-181A>G" "r.(?)" "p.(=)" "" "0000577249" "00008536" "90" "-103" "0" "-103" "0" "c.-103C>T" "r.(?)" "p.(=)" "" "0000577250" "00008536" "50" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Trp3Ter)" "" "0000577251" "00008536" "90" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Arg15Gln)" "" "0000577252" "00008536" "90" "83" "0" "83" "0" "c.83T>C" "r.(?)" "p.(Ile28Thr)" "" "0000577253" "00008536" "90" "89" "0" "90" "0" "c.89_90insTCTTCA" "r.(?)" "p.(Ile30_Phe31insLeuHis)" "" "0000577254" "00008536" "90" "114" "0" "115" "0" "c.114_115insC" "r.(?)" "p.(Ala39ArgfsTer8)" "" "0000577255" "00008536" "90" "164" "0" "165" "0" "c.164_165insCACTCCAGCCTGGCTGCAACA" "r.(?)" "p.(Thr55_Leu56insThrProAlaTrpLeuGlnGln)" "" "0000577256" "00008536" "90" "171" "0" "171" "0" "c.171G>C" "r.(?)" "p.(Gln57His)" "" "0000577257" "00008536" "90" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Val63Ile)" "" "0000577258" "00008536" "90" "210" "0" "210" "0" "c.210dup" "r.(?)" "p.(Ile71HisfsTer39)" "" "0000577259" "00008536" "50" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ser72Phe)" "" "0000577260" "00008536" "30" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Leu79=)" "" "0000577261" "00008536" "90" "257" "0" "257" "0" "c.257C>A" "r.(?)" "p.(Thr86Asn)" "" "0000577262" "00008536" "90" "269" "0" "269" "0" "c.269T>A" "r.(?)" "p.(Leu90His)" "" "0000577263" "00008536" "90" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(His94Gln)" "" "0000577264" "00008536" "90" "374" "0" "374" "0" "c.374T>A" "r.(?)" "p.(Val125Asp)" "" "0000577265" "00008536" "90" "382" "0" "382" "0" "c.382T>C" "r.(?)" "p.(Ser128Pro)" "" "0000577266" "00008536" "90" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" "" "0000577267" "00008536" "90" "542" "0" "542" "0" "c.542T>C" "r.(?)" "p.(Val181Ala)" "" "0000577268" "00008536" "50" "551" "0" "551" "0" "c.551C>A" "r.(?)" "p.(Pro184His)" "" "0000577269" "00008536" "90" "562" "0" "563" "0" "c.562_563insACCGTCTTA" "r.(?)" "p.(Lys187_Thr188insAsnArgLeu)" "" "0000577270" "00008536" "90" "571" "0" "572" "0" "c.571_572insACCGTCTTC" "r.(?)" "p.(Thr191delinsAsnArgLeuPro)" "" "0000577271" "00008536" "50" "689" "0" "689" "0" "c.689G>T" "r.(?)" "p.(Arg230Leu)" "" "0000577272" "00008536" "50" "689" "0" "689" "0" "c.689G>T" "r.(?)" "p.(Arg230Leu)" "" "0000577274" "00008536" "70" "729" "0" "729" "0" "c.729C>A" "r.(?)" "p.(Tyr243Ter)" "" "0000577275" "00008536" "10" "969" "0" "969" "0" "c.*117C>T" "r.(=)" "p.(=)" "" "0000577276" "00008536" "10" "1015" "0" "1015" "0" "c.*163G>T" "r.(=)" "p.(=)" "" "0000595611" "00008536" "70" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164Trp)" "" "0000595612" "00008536" "70" "412" "0" "412" "0" "c.412A>G" "r.(?)" "p.(Ser138Gly)" "" "0000595613" "00008536" "50" "141" "0" "143" "0" "c.141_143dup" "r.(?)" "p.(Lys48dup)" "" "0000595614" "00008536" "50" "44" "0" "45" "0" "c.44_45delinsTT" "r.(?)" "p.(Arg15Leu)" "" "0000595615" "00008536" "70" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Met93Val)" "" "0000595616" "00008536" "70" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164Gln)" "" "0000595617" "00008536" "50" "484" "0" "484" "0" "c.484dup" "r.(?)" "p.(Met162Asnfs*81)" "" "0000595618" "00008536" "70" "540" "0" "540" "0" "c.540C>G" "r.(?)" "p.(Phe180Leu)" "" "0000595619" "00008536" "70" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Val177Met)" "" "0000595620" "00008536" "70" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Ala96Val)" "" "0000595621" "00008536" "70" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Pro87Leu)" "" "0000595622" "00008536" "50" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Arg215Trp)" "" "0000595623" "00008536" "50" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Pro172Leu)" "" "0000595624" "00008536" "50" "551" "0" "551" "0" "c.551C>G" "r.(?)" "p.(Pro184Arg)" "" "0000619842" "00008536" "10" "-4169" "0" "-4164" "0" "c.-4169_-4164dup" "r.(?)" "p.(=)" "" "0000619843" "00008536" "70" "151" "0" "151" "0" "c.151T>C" "r.(?)" "p.(Phe51Leu)" "" "0000619844" "00008536" "70" "151" "0" "151" "0" "c.151T>C" "r.(?)" "p.(Phe51Leu)" "" "0000619845" "00008536" "30" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Leu79=)" "" "0000619846" "00008536" "30" "504" "0" "504" "0" "c.504C>T" "r.(?)" "p.(Cys168=)" "" "0000619847" "00008536" "50" "637" "0" "637" "0" "c.637A>G" "r.(?)" "p.(Ile213Val)" "" "0000624702" "00008536" "10" "-692" "0" "-692" "0" "c.-692C>T" "r.(?)" "p.(=)" "" "0000631943" "00008536" "90" "508" "0" "551" "0" "c.508_551dup" "r.(?)" "p.(Thr185Serfs*26)" "" "0000632330" "00008536" "70" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Thr134Ile)" "" "0000652948" "00008536" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "0000652949" "00008536" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107Trp)" "" "0000659437" "00008536" "30" "402" "0" "402" "0" "c.402C>G" "r.(?)" "p.(Thr134=)" "" "0000659438" "00008536" "50" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Gly270Arg)" "" "0000664006" "00008536" "90" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Arg22Gln)" "" "0000664007" "00008536" "90" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Val139Met)" "" "0000664008" "00008536" "90" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Gly159Asp)" "" "0000664009" "00008536" "90" "-103" "0" "-103" "0" "c.-103C>T" "r.(?)" "p.(=)" "" "0000664032" "00008536" "90" "-17" "0" "-17" "0" "c.-17G>A" "r.(?)" "p.(=)" "" "0000664067" "00008536" "70" "124" "0" "125" "0" "c.124_125del" "r.(?)" "p.(Ser42Cysfs*4)" "" "0000664068" "00008536" "70" "608" "0" "609" "0" "c.608_609dup" "r.(?)" "p.(Leu204Serfs*50)" "" "0000664069" "00008536" "70" "838" "0" "838" "0" "c.838T>C" "r.(?)" "p.(Cys280Arg)" "" "0000664070" "00008536" "70" "-5413" "0" "-49" "0" "c.-5413_-49delins(32)" "r.0?" "p.?" "" "0000664071" "00008536" "70" "0" "0" "0" "0" "c.-146_(*20_?){0}" "r.0?" "p.0" "" "0000664118" "00008536" "70" "-5413" "0" "-49" "0" "c.-5413_-49delins(32)" "r.0?" "p.?" "" "0000682612" "00008536" "30" "-4172" "0" "-4164" "0" "c.-4172_-4164dup" "r.(?)" "p.(=)" "" "0000682613" "00008536" "30" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Leu79=)" "" "0000685806" "00008536" "90" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Arg238His)" "" "0000693712" "00008536" "10" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Arg224His)" "" "0000704294" "00008536" "50" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "2" "0000704295" "00008536" "90" "509" "0" "509" "0" "c.509T>A" "r.(?)" "p.(Val170Asp)" "" "0000704296" "00008536" "90" "509" "0" "509" "0" "c.509T>A" "r.(?)" "p.(Val170Asp)" "" "0000704297" "00008536" "90" "509" "0" "509" "0" "c.509T>A" "r.(?)" "p.(Val170Asp)" "" "0000704298" "00008536" "90" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Leu108Pro)" "" "0000704299" "00008536" "90" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Val13Met)" "" "0000704300" "00008536" "90" "145" "0" "145" "0" "c.145T>C" "r.(?)" "p.(Ser49Pro)" "" "0000704301" "00008536" "90" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183His)" "" "0000704302" "00008536" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Val177Met)" "" "0000729149" "00008536" "70" "-172" "0" "-172" "0" "c.-172T>G" "r.(?)" "p.(=)" "" "0000729150" "00008536" "30" "-17" "25" "-17" "25" "c.-17+25C>T" "r.(=)" "p.(=)" "" "0000729151" "00008536" "30" "-16" "-139" "-16" "-139" "c.-16-139A>G" "r.(=)" "p.(=)" "" "0000729152" "00008536" "90" "150" "0" "153" "0" "c.150_153del" "r.(?)" "p.(Phe51Serfs*32)" "" "0000729153" "00008536" "30" "165" "0" "165" "0" "c.165A>G" "r.(?)" "p.(Thr55=)" "" "0000729154" "00008536" "70" "281" "0" "281" "0" "c.281A>G" "r.(?)" "p.(His94Arg)" "" "0000729155" "00008536" "70" "739" "0" "739" "0" "c.739G>A" "r.(?)" "p.(Glu247Lys)" "" "0000786872" "00008536" "90" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15Trp)" "2" "0000815872" "00008536" "70" "164" "0" "184" "0" "c.164_184dup" "r.(?)" "p.(Thr55_Asn61dup)" "" "0000832375" "00008536" "90" "605" "0" "605" "0" "c.605T>A" "r.(?)" "p.(Ile202Asn)" "" "0000832482" "00008536" "90" "605" "0" "605" "0" "c.605T>A" "r.(?)" "p.(Ile202Asn)" "" "0000832483" "00008536" "90" "605" "0" "605" "0" "c.605T>A" "r.(?)" "p.(Ile202Asn)" "" "0000832484" "00008536" "90" "605" "0" "605" "0" "c.605T>A" "r.(?)" "p.(Ile202Asn)" "" "0000832485" "00008536" "90" "605" "0" "605" "0" "c.605T>A" "r.(?)" "p.(Ile202Asn)" "" "0000833031" "00008536" "90" "5" "0" "5" "0" "c.5A>G" "r.(?)" "p.(Asn2Ser)" "" "0000833692" "00008536" "90" "5" "0" "5" "0" "c.5A>G" "r.(?)" "p.(Asn2Ser)" "" "0000833694" "00008536" "90" "5" "0" "5" "0" "c.5A>G" "r.(?)" "p.(Asn2Ser)" "" "0000833695" "00008536" "90" "5" "0" "5" "0" "c.5A>G" "r.(?)" "p.(Asn2Ser)" "" "0000833696" "00008536" "90" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Trp3*)" "" "0000833697" "00008536" "90" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Trp3*)" "" "0000833825" "00008536" "90" "242" "0" "242" "0" "c.242T>C" "r.(?)" "p.(Leu81Pro)" "" "0000833826" "00008536" "90" "242" "0" "242" "0" "c.242T>C" "r.(?)" "p.(Leu81Pro)" "" "0000833827" "00008536" "90" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Leu90Pro)" "" "0000833828" "00008536" "90" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Leu90Pro)" "" "0000833829" "00008536" "90" "317" "0" "317" "0" "c.317T>C" "r.(?)" "p.(Leu106Pro)" "" "0000833830" "00008536" "90" "434" "0" "434" "0" "c.434T>G" "r.(?)" "p.(Phe145Cys)" "" "0000833831" "00008536" "90" "434" "0" "434" "0" "c.434T>G" "r.(?)" "p.(Phe145Cys)" "" "0000845884" "00008536" "90" "281" "0" "287" "0" "c.281_287del" "r.(?)" "p.(His94Leufs*6)" "2" "0000856761" "00008536" "50" "-240" "0" "-240" "0" "c.-240T>A" "r.(?)" "p.(=)" "" "0000856762" "00008536" "10" "-16" "-82" "-16" "-82" "c.-16-82G>C" "r.(=)" "p.(=)" "" "0000856763" "00008536" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000856764" "00008536" "30" "391" "0" "391" "0" "c.391C>T" "r.(?)" "p.(Leu131=)" "" "0000867531" "00008536" "10" "-4172" "0" "-4164" "0" "c.-4172_-4164del" "r.(?)" "p.(=)" "" "0000867532" "00008536" "30" "30" "0" "30" "0" "c.30C>T" "r.(?)" "p.(Leu10=)" "" "0000867533" "00008536" "30" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Pro228Ser)" "" "0000873471" "00008536" "70" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Trp3*)" "" "0000896342" "00008536" "10" "-273" "0" "-273" "0" "c.-273C>T" "r.(?)" "p.(=)" "" "0000896343" "00008536" "30" "-272" "0" "-272" "0" "c.-272G>A" "r.(?)" "p.(=)" "" "0000896344" "00008536" "50" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Thr8Ile)" "" "0000918178" "00008536" "90" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183His)" "" "0000931458" "00008536" "30" "-358" "0" "-358" "0" "c.-358C>T" "r.(?)" "p.(=)" "" "0000931459" "00008536" "30" "1161" "0" "1161" "0" "c.*309G>A" "r.(=)" "p.(=)" "" "0000951792" "00008536" "10" "-4175" "0" "-4164" "0" "c.-4175_-4164del" "r.(?)" "p.(=)" "" "0000971300" "00008536" "30" "-16" "-48" "-16" "-48" "c.-16-48T>C" "r.(=)" "p.(=)" "" "0000971301" "00008536" "70" "191" "0" "191" "0" "c.191G>T" "r.(?)" "p.(Cys64Phe)" "" "0000971302" "00008536" "70" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142Gln)" "" "0000984843" "00008536" "70" "115" "0" "115" "0" "c.115G>T" "r.(?)" "p.(Ala39Ser)" "" "0000984844" "00008536" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Trp)" "" "0000984845" "00008536" "50" "526" "0" "526" "0" "c.526A>G" "r.(?)" "p.(Thr176Ala)" "" "0000985331" "00008536" "90" "124" "0" "125" "0" "c.124_125del" "r.(?)" "p.(Ser42CysfsTer4)" "" "0001011917" "00008536" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0001016055" "00008536" "10" "886" "0" "886" "0" "c.*34C>A" "r.(=)" "p.(=)" "" "0001027526" "00008536" "10" "910" "0" "910" "0" "c.*58C>T" "r.(=)" "p.(=)" "" "0001029693" "00008536" "70" "542" "0" "542" "0" "c.542T>C" "r.(?)" "p.(Val181Ala)" "2" "0001044478" "00008536" "30" "-366" "0" "-366" "0" "c.-366C>T" "r.(?)" "p.(=)" "" "0001044479" "00008536" "50" "-181" "0" "-181" "0" "c.-181A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 395 "{{screeningid}}" "{{variantid}}" "0000035523" "0000062642" "0000035524" "0000062643" "0000035525" "0000062644" "0000035526" "0000062645" "0000035527" "0000062646" "0000035528" "0000062647" "0000035529" "0000062648" "0000035530" "0000062649" "0000035531" "0000062650" "0000035532" "0000062651" "0000035533" "0000062652" "0000035534" "0000062653" "0000035535" "0000062654" "0000035536" "0000062655" "0000035537" "0000062656" "0000035538" "0000062657" "0000035539" "0000062658" "0000035540" "0000062659" "0000035541" "0000062660" "0000035542" "0000062661" "0000035543" "0000062662" "0000035544" "0000062663" "0000206575" "0000436208" "0000206576" "0000436209" "0000206577" "0000436210" "0000206578" "0000436211" "0000206579" "0000436212" "0000206580" "0000436213" "0000206581" "0000436214" "0000206582" "0000436215" "0000206583" "0000436216" "0000206584" "0000436217" "0000206585" "0000436218" "0000206586" "0000436219" "0000206587" "0000436220" "0000206588" "0000436221" "0000206589" "0000436222" "0000206590" "0000436223" "0000206591" "0000436224" "0000206592" "0000436225" "0000206593" "0000436226" "0000206594" "0000436227" "0000206595" "0000436228" "0000206596" "0000436229" "0000206597" "0000436230" "0000206598" "0000436231" "0000206599" "0000436232" "0000206600" "0000436233" "0000206601" "0000436234" "0000206602" "0000436235" "0000206603" "0000436236" "0000206604" "0000436237" "0000206605" "0000436238" "0000206606" "0000436239" "0000206607" "0000436240" "0000206608" "0000436241" "0000206609" "0000436242" "0000206610" "0000436243" "0000206611" "0000436244" "0000206612" "0000436245" "0000206613" "0000436246" "0000206614" "0000436247" "0000206615" "0000436248" "0000206616" "0000436249" "0000206617" "0000436250" "0000206618" "0000436251" "0000206619" "0000436252" "0000206620" "0000436253" "0000206621" "0000436254" "0000206622" "0000436255" "0000206623" "0000436256" "0000206624" "0000436257" "0000206625" "0000436258" "0000206626" "0000436259" "0000206627" "0000436260" "0000206628" "0000436261" "0000206629" "0000436262" "0000206630" "0000436263" "0000206631" "0000436264" "0000206632" "0000436265" "0000206633" "0000436266" "0000206634" "0000436267" "0000206635" "0000436268" "0000206636" "0000436269" "0000206637" "0000436270" "0000206638" "0000436271" "0000206639" "0000436272" "0000206640" "0000436273" "0000206641" "0000436274" "0000206642" "0000436275" "0000206643" "0000436276" "0000206644" "0000436277" "0000206645" "0000436278" "0000206646" "0000436279" "0000206647" "0000436280" "0000206648" "0000436281" "0000206649" "0000436282" "0000206650" "0000436283" "0000206651" "0000436284" "0000206652" "0000436285" "0000206653" "0000436286" "0000206654" "0000436287" "0000206655" "0000436288" "0000206656" "0000436289" "0000206657" "0000436290" "0000206658" "0000436291" "0000206659" "0000436292" "0000206660" "0000436293" "0000206661" "0000436294" "0000206662" "0000436295" "0000206663" "0000436296" "0000206664" "0000436297" "0000206665" "0000436298" "0000206666" "0000436299" "0000206667" "0000436300" "0000206668" "0000436301" "0000206669" "0000436302" "0000206670" "0000436303" "0000206671" "0000436304" "0000206672" "0000436305" "0000206673" "0000436306" "0000206674" "0000436307" "0000206675" "0000436308" "0000206676" "0000436309" "0000206677" "0000436310" "0000206678" "0000436311" "0000206679" "0000436312" "0000206680" "0000436313" "0000206681" "0000436314" "0000206682" "0000436315" "0000206683" "0000436316" "0000206684" "0000436317" "0000206685" "0000436318" "0000206686" "0000436319" "0000206687" "0000436320" "0000206688" "0000436321" "0000206689" "0000436322" "0000206690" "0000436323" "0000206691" "0000436324" "0000206692" "0000436325" "0000206693" "0000436326" "0000206694" "0000436327" "0000206695" "0000436328" "0000206696" "0000436329" "0000206697" "0000436330" "0000206698" "0000436331" "0000206699" "0000436332" "0000206700" "0000436333" "0000206701" "0000436334" "0000206702" "0000436335" "0000206703" "0000436336" "0000206704" "0000436337" "0000206705" "0000436338" "0000206706" "0000436339" "0000206707" "0000436340" "0000206708" "0000436341" "0000206709" "0000436342" "0000206710" "0000436343" "0000206711" "0000436344" "0000206712" "0000436345" "0000206713" "0000436346" "0000206714" "0000436347" "0000206715" "0000436348" "0000206716" "0000436349" "0000206717" "0000436350" "0000206718" "0000436351" "0000206719" "0000436352" "0000206720" "0000436353" "0000206721" "0000436354" "0000206722" "0000436355" "0000206723" "0000436356" "0000206724" "0000436357" "0000206725" "0000436358" "0000206726" "0000436359" "0000206727" "0000436360" "0000206728" "0000436361" "0000206729" "0000436362" "0000206730" "0000436363" "0000206731" "0000436364" "0000206732" "0000436365" "0000206733" "0000436366" "0000206734" "0000436367" "0000206735" "0000436368" "0000206736" "0000436369" "0000206737" "0000436370" "0000206738" "0000436371" "0000206739" "0000436372" "0000206740" 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