### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PMP22) # 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}}" "PMP22" "peripheral myelin protein 22" "17" "p12" "unknown" "NG_007949.1" "UD_132118287901" "" "https://www.LOVD.nl/PMP22" "IPNMDB - Inherited Peripheral Neuropathies Mutation DataBase " "1" "9118" "5376" "601097" "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" "" "g" "https://databases.lovd.nl/shared/refseq/PMP22_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00002" "2010-04-29 00:00:00" "00006" "2018-12-28 12:09:15" "00006" "2025-10-07 19:08:50" ## 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}}" "00025424" "PMP22" "transcript variant 1" "004" "NM_000304.3" "" "NP_000295.1" "" "" "" "-238" "1623" "483" "15168674" "15133094" "00001" "2019-07-17 13:39:28" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "01247" "CMT1A" "Charcot-Marie-Tooth disease, type IA (CMT1A)" "AD" "118220" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-30 17:23:15" "01248" "CMT1E" "Charcot-Marie-Tooth disease, type IE (CMT-1E)" "AD" "118300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01273" "hCK" "hyperCKemia (hCK, elevated serum creatine phosphokinase)" "AD" "123320" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01356" "GBS" "Guillain-Barre syndrome, familial" "" "139393" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01387" "DejerineSottas" "Dejerine-Sottas disease (hypertrophic neuropathy)" "AD;AR" "145900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-06 13:53:03" "01467" "HNPP" "neuropathy, hereditary, with liability pressure palsies (HNPP)" "AD" "162500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01549" "Roussy-Levy syndrome" "Roussy-Levy syndrome" "AD" "180800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-18 15:54:02" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05106" "MPD" "myopathy, distal (MPD)" "" "" "" "" "" "00006" "2015-12-08 01:43:19" "" "" "05111" "HMN" "neuropathy, motor, distal, hereditary (HMN)" "" "" "" "" "" "00006" "2016-01-11 01:33:03" "00006" "2016-03-20 12:15:43" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05122" "HSN" "neuropathy, sensory, hereditary (HSN)" "" "" "" "" "" "00006" "2016-01-24 01:36:12" "00006" "2020-04-22 19:42:45" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05156" "CMT1" "Charcot-Marie-Tooth disease, type I (CMT-1)" "" "" "" "" "" "00006" "2016-04-15 10:17:45" "00006" "2021-12-11 13:56:28" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "PMP22" "01247" "PMP22" "01248" "PMP22" "01356" "PMP22" "01387" "PMP22" "01467" "PMP22" "01549" ## Individuals ## Do not remove or alter this header ## ## Count = 147 "{{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}}" "00000009" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00036499" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036500" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036501" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036502" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036503" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036504" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036505" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036506" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036507" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036508" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036509" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036510" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036511" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00150118" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00207584" "" "" "" "1" "" "02371" "" "" "F" "no" "France" "68y" "0" "" "" "" "" "00207924" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00210008" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00210563" "" "" "" "1" "" "01493" "" "" "F" "no" "Korea, South (Republic)" "" "0" "" "" "Korean" "" "00210564" "" "" "" "1" "" "01493" "" "family, 1 affected" "M" "no" "Korea, South (Republic)" "" "0" "" "" "Korean" "" "00210565" "" "" "" "1" "" "00006" "{PMID:Fabrizi 1999:10489052}" "" "" "" "" "" "0" "" "" "" "" "00210566" "" "" "" "1" "" "00006" "{PMID:Muglia 2007:17707409}" "" "" "" "" "" "0" "" "" "" "" "00210567" "" "" "" "1" "" "00006" "{PMID:Taioli 2011:21252112}" "" "" "" "" "" "0" "" "" "" "" "00210568" "" "" "" "1" "" "00006" "{PMID:Taioli 2011:21252112}" "" "" "" "" "" "0" "" "" "" "" "00210569" "" "" "" "1" "" "00006" "{PMID:Nelis 1999:9888385}" "" "" "" "" "" "0" "" "" "" "" "00210570" "" "" "" "1" "" "00006" "{PMID:Nicholson 1994:8012388}" "" "" "" "" "" "0" "" "" "" "" "00210571" "" "" "" "1" "" "00006" "{PMID:Huehne 2003:12497641}" "" "" "" "" "" "0" "" "" "" "" "00210572" "" "" "" "1" "" "00006" "{PMID:Nodera 2003:12796555}" "" "" "" "" "" "0" "" "" "" "" "00210573" "" "" "" "1" "" "00006" "{PMID:Kovach 1999:10330345}" "" "" "" "" "" "0" "" "" "" "" "00210574" "" "" "" "1" "" "00006" "{PMID:Roa 1993:8275092}" "" "" "" "" "" "0" "" "" "" "" "00210575" "" "" "" "1" "" "00006" "{PMID:Russo 2011:21194947}" "" "" "" "" "" "0" "" "" "" "" "00210576" "" "" "" "1" "" "00006" "{PMID:Boerkoel 2002:11835375}" "" "" "" "" "" "0" "" "" "" "" "00210577" "" "" "" "1" "" "00006" "{PMID:Nelis 1999:9888385}" "" "" "" "" "" "0" "" "" "" "" "00210578" "" "" "" "1" "" "00006" "{PMID:Tyson 1997:9055797}" "" "" "" "" "" "0" "" "" "" "" "00210579" "" "" "" "1" "" "00006" "{PMID:Luigetti 2008:18642376}" "" "" "" "" "" "0" "" "" "" "" "00210580" "" "" "" "1" "" "00006" "{PMID:Tyson 1997:9055797}" "" "" "" "" "" "0" "" "" "" "" "00210581" "" "" "" "1" "" "00006" "{PMID:Pisciotta 2009:19909487}" "" "" "" "" "" "0" "" "" "" "" "00210582" "" "" "" "1" "" "00006" "{PMID:Brožková 2011:22006697}" "" "" "" "" "" "0" "" "" "" "" "00210583" "" "" "" "1" "" "00006" "{PMID:Bort 1998:9452053}" "" "" "" "" "" "0" "" "" "" "" "00210584" "" "" "" "1" "" "00006" "{PMID:Roa 1993:8510709}" "" "" "" "" "" "0" "" "" "" "" "00210585" "" "" "" "1" "" "00006" "{PMID:Ikegami 1998:9544841}" "" "" "" "" "" "0" "" "" "" "" "00210586" "" "" "" "1" "" "00006" "{PMID:Tyson 1997:9055797}" "" "" "" "" "" "0" "" "" "" "" "00210587" "" "" "" "1" "" "00006" "{PMID:Gabreels-Festen 2002:12090401}" "" "" "" "" "" "0" "" "" "" "" "00210588" "" "" "" "1" "" "00006" "{PMID:Silander 1998:9633821}" "" "" "" "" "" "0" "" "" "" "" "00210589" "" "" "" "1" "" "00006" "{PMID:Numakura 2002:12402337}" "" "" "" "" "" "0" "" "" "" "" "00210590" "" "" "" "1" "" "00006" "{PMID:Ohnishi 1995:8777804}" "" "" "" "" "" "0" "" "" "" "" "00210591" "" "" "" "1" "" "00006" "{PMID:Ionasescu 1997:9324088}" "" "" "" "" "" "0" "" "" "" "" "00210592" "" "" "" "1" "" "00006" "{PMID:Young 1997:9040737}" "" "" "" "" "" "0" "" "" "" "" "00210593" "" "" "" "1" "" "00006" "{PMID:Moszynska 2009:19830275}" "" "" "" "" "" "0" "" "" "" "" "00210594" "" "" "" "1" "" "00006" "{PMID:Bort 1997:9187667}" "" "" "" "" "" "0" "" "" "" "" "00210595" "" "" "" "1" "" "00006" "{PMID:Marques 1998:9585367}" "" "" "" "" "" "0" "" "" "" "" "00210596" "" "" "" "1" "" "00006" "{PMID:Pisciotta 2009:19909487}" "" "" "" "" "" "0" "" "" "" "" "00210597" "" "" "" "1" "" "00006" "{PMID:Zhang 2009:19543269}" "" "" "" "" "" "0" "" "" "" "" "00210598" "" "" "" "1" "" "00006" "{PMID:Numakura 2002:12402337}" "" "" "" "" "" "0" "" "" "" "" "00210599" "" "" "" "1" "" "00006" "{PMID:Nelis 1999:9888385}" "" "" "" "" "" "0" "" "" "" "" "00210600" "" "" "" "1" "" "00006" "{PMID:Choi 2004:15241803}" "" "" "" "" "" "0" "" "" "" "" "00210601" "" "" "" "1" "" "00006" "{PMID:Marrosu 1997:9040744}" "" "" "" "" "" "0" "" "" "" "" "00210602" "" "" "" "1" "" "00006" "{PMID:Zubair 2008:18592125}" "" "" "" "" "" "0" "" "" "" "" "00210603" "" "" "" "1" "" "00006" "{PMID:Abe 2004:15099590}" "" "" "" "" "" "0" "" "" "" "" "00210604" "" "" "" "1" "" "00006" "{PMID:Miltenberger-Miltenyi 2009:19259128}" "" "" "" "" "" "0" "" "" "" "" "00210605" "" "" "" "1" "" "00006" "{PMID:Kabzinska 2010:20453308}" "" "" "" "" "" "0" "" "" "" "" "00210606" "" "" "" "1" "" "00006" "{PMID:Sambuughin 2003:12578939}" "" "" "" "" "" "0" "" "" "" "" "00210607" "" "" "" "1" "" "00006" "{PMID:Taioli 2011:21252112}" "" "" "" "" "" "0" "" "" "" "" "00210608" "" "" "" "1" "" "00006" "{PMID:Roa 1993:8252046}" "" "" "" "" "" "0" "" "" "" "" "00210609" "" "" "" "1" "" "00006" "{PMID:Bissar-Tadmouri 2000:11140841}" "" "" "" "" "" "0" "" "" "" "" "00210610" "" "" "" "1" "" "00006" "{PMID:Valentijn 1995:7728152}" "" "" "" "" "" "0" "" "" "" "" "00210611" "" "" "" "1" "" "00006" "{PMID:Russo 2011:21194947}" "" "" "" "" "" "0" "" "" "" "" "00210612" "" "" "" "1" "" "00006" "{PMID:Takashima 2001:11545686}" "" "" "" "" "" "0" "" "" "" "" "00210613" "" "" "" "1" "" "00006" "{PMID:Brožková 2011:22006697}" "" "" "" "" "" "0" "" "" "" "" "00210614" "" "" "" "1" "" "00006" "{PMID:Zephir 2005:15955700}" "" "" "" "" "" "0" "" "" "" "" "00210615" "" "" "" "1" "" "00006" "{PMID:Navon 1996:8655153}" "" "" "" "" "" "0" "" "" "" "" "00210616" "" "" "" "1" "" "00006" "{PMID:Taioli 2011:21252112}" "" "" "" "" "" "0" "" "" "" "" "00210617" "" "" "" "1" "" "00006" "{PMID:Ohnishi 2000:10663978}" "" "" "" "" "" "0" "" "" "" "" "00210618" "" "" "" "1" "" "00006" "{PMID:Ikegami 1998:9544841}" "" "" "" "" "" "0" "" "" "" "" "00210619" "" "" "" "1" "" "00006" "{PMID:Ionasescu 1997:8995589}" "" "" "" "" "" "0" "" "" "" "" "00210620" "" "" "" "1" "" "00006" "{PMID:Numakura 2000:10632107}" "" "" "" "" "" "0" "" "" "" "" "00210621" "" "" "" "1" "" "00006" "{PMID:Parman 1999:10211478}" "" "" "" "" "" "0" "" "" "" "" "00210622" "" "" "" "1" "" "00006" "{PMID:Gess 2011:21337347}" "" "" "" "" "" "0" "" "" "" "" "00210623" "" "" "" "1" "" "00006" "{PMID:Valentijn 1992:1303281}" "" "" "" "" "" "0" "" "" "" "" "00210624" "" "" "" "1" "" "00006" "{PMID:Nelis 1999:9888385}" "" "" "" "" "" "0" "" "" "" "" "00210625" "" "" "" "1" "" "00006" "{PMID:Kleopa 2004:15205993}" "" "" "" "" "" "0" "" "" "" "" "00210626" "" "" "" "1" "" "00006" "{PMID:Joo 2004:15099592}" "" "" "" "" "" "0" "" "" "" "" "00210627" "" "" "" "1" "" "00006" "{PMID:Mersiyanova 2000:10737979}" "" "" "" "" "" "0" "" "" "" "" "00210628" "" "" "" "1" "" "00006" "{PMID:Takashima 2001:11545686}" "" "" "" "" "" "0" "" "" "" "" "00210629" "" "" "" "1" "" "00006" "{PMID:Sahenk 1998:9748013}" "" "" "" "" "" "0" "" "" "" "" "00219025" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat35" "00219026" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat36" "00219027" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat37" "00219028" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat38" "00219029" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat39" "00219030" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat40" "00219031" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat41" "00219032" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat42" "00219033" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat43" "00219034" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat44" "00219035" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat45" "00219036" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat46" "00219037" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat47" "00219038" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat48" "00219039" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat49" "00219040" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat50" "00219041" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat51" "00219042" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat52" "00219043" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat53" "00219044" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat54" "00229601" "" "" "" "1" "" "03239" "" "" "F" "" "Croatia (Hrvatska)" "" "0" "" "" "" "03239" "00229603" "" "" "" "1" "" "03239" "" "" "M" "" "Croatia (Hrvatska)" "" "0" "" "" "" "03239" "00229604" "" "" "" "1" "" "03239" "" "" "M" "" "Croatia (Hrvatska)" "" "0" "" "" "" "03239" "00229605" "" "" "" "1" "" "03239" "" "" "F" "" "Croatia (Hrvatska)" "" "0" "" "" "" "03239" "00244426" "" "" "" "2" "" "03347" "" "" "M" "no" "France" "" "0" "" "" "" "" "00263956" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263957" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00291634" "" "" "" "109" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291635" "" "" "" "116" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291636" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296557" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}. {PMID:Forrester 2020:31985473}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GARS817G>A/Pat4" "00296561" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296864" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00300020" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2" "00300021" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1" "00300022" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300023" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat14" "00300084" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat13" "00300085" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300086" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300114" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat15" "00300141" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat3" "00300151" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat4" "00300154" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-PMP22-e" "00304564" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304565" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305561" "" "" "" "1" "" "00006" "{PMID:Xie 2019:30764848}" "" "M" "" "China" "" "0" "" "" "" "P1" "00311126" "" "" "" "1" "" "03752" "{PMID:Cerino 2020:32934002}" "" "F" "" "France" "" "0" "" "" "" "Pat13" "00374618" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3240" "00408942" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "F" "" "France" "" "0" "" "" "French" "V" "00408944" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "F" "" "France" "" "0" "" "" "French" "VII" "00408946" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "M" "" "France" "" "0" "" "" "French" "X" "00408948" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "M" "" "France" "" "0" "" "" "French" "XII" "00408949" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "F" "" "France" "" "0" "" "" "French" "XIV" "00414350" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP17" "00414365" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP32" "00414446" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP113" "00414449" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP116" "00414452" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP119" "00414482" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP149" "00460161" "" "" "" "1" "" "00006" "{PMID:Barp 2024:39638552}" "3-generation family, 2 affected (2M)" "M" "" "Italy" "" "0" "" "" "" "FamPatIII2" "00467062" "" "" "" "1" "" "04175" "" "" "" "" "" "" "" "" "" "Avar population" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 132 "{{individualid}}" "{{diseaseid}}" "00036507" "00198" "00150118" "00198" "00207584" "05113" "00210563" "05113" "00210564" "05113" "00210565" "05156" "00210566" "01467" "00210567" "01467" "00210568" "01467" "00210569" "01467" "00210570" "01467" "00210571" "05156" "00210572" "01467" "00210573" "05113" "00210574" "01387" "00210575" "05113" "00210576" "01387" "00210577" "01387" "00210578" "01387" "00210579" "01467" "00210580" "01387" "00210581" "05156" "00210582" "01387" "00210583" "01387" "00210584" "05156" "00210585" "01387" "00210586" "01387" "00210587" "01387" "00210588" "01387" "00210589" "05156" "00210590" "05156" "00210591" "05156" "00210592" "01467" "00210593" "01467" "00210594" "01387" "00210595" "01387" "00210596" "05156" "00210597" "01467" "00210598" "05156" "00210599" "05156" "00210600" "05156" "00210601" "01467" "00210602" "01549" "00210603" "05156" "00210604" "05113" "00210605" "05156" "00210606" "05113" "00210607" "01467" "00210608" "05156" "00210609" "01467" "00210610" "01387" "00210611" "05113" "00210612" "05156" "00210613" "01467" "00210614" "01467" "00210615" "05156" "00210616" "01467" "00210617" "01387" "00210618" "01387" "00210619" "01387" "00210620" "05156" "00210621" "01387" "00210622" "05384" "00210623" "05156" "00210624" "01387" "00210625" "01467" "00210626" "05156" "00210627" "05156" "00210628" "05156" "00210629" "01467" "00219025" "05113" "00219026" "05113" "00219027" "05113" "00219028" "05113" "00219029" "05113" "00219030" "01467" "00219031" "01467" "00219032" "01467" "00219033" "05113" "00219034" "05113" "00219035" "05113" "00219036" "05113" "00219037" "05113" "00219038" "05113" "00219039" "05113" "00219040" "05113" "00219041" "05113" "00219042" "05113" "00219043" "05113" "00219044" "05113" "00229601" "05113" "00229603" "05113" "00229604" "05113" "00229605" "05113" "00244426" "01467" "00263956" "00199" "00263957" "00199" "00291634" "00198" "00291635" "00198" "00291636" "00198" "00296557" "05384" "00296561" "00198" "00296864" "00198" "00300020" "00199" "00300021" "00199" "00300022" "00199" "00300023" "00199" "00300084" "05111" "00300085" "05113" "00300086" "00199" "00300114" "05384" "00300141" "05111" "00300151" "05111" "00300154" "05122" "00304564" "00198" "00304565" "00198" "00305561" "05126" "00311126" "05106" "00374618" "00198" "00408942" "04214" "00408944" "04214" "00408946" "04214" "00408948" "04214" "00408949" "04214" "00414350" "00198" "00414365" "00198" "00414446" "00198" "00414449" "00198" "00414452" "00198" "00414482" "00198" "00460161" "01273" "00467062" "01467" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00199, 01247, 01248, 01273, 01356, 01387, 01467, 01549, 04214, 05106, 05111, 05113, 05122, 05126, 05156, 05384 ## Count = 55 "{{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}}" "0000122520" "00198" "00150118" "01807" "Unknown" "" "Hyperkinetic movements (HP:0002487); Polyneuropathy (HP:0001271); Dysphagia (HP:0002015); Orofacial dyskinesia (HP:0002310)" "" "" "" "" "" "" "" "" "" "" "" "0000155395" "05113" "00207584" "02371" "Familial, autosomal dominant" "68y" "sensori-motor demyelinating neuropathy, severe auditory neuropathy, balance disorders" "30y" "" "50y" "PMP22" "" "" "" "" "cmt" "cmt" "" "0000156559" "00198" "00036507" "01164" "Unknown" "" "suspected HNPP, sensomotorische axonal-demyelinisierende PNP, PP of the N.peroneus, family history: positive , father affected" "" "" "" "" "" "" "" "" "" "HNPP?" "" "0000158603" "00198" "00210008" "01164" "Unknown" "" "HP:0002460 (Distal muscle weakness); HP:0009830 (Peripheral neuropathy)" "" "" "" "" "" "" "" "" "" "" "" "0000159128" "05113" "00210563" "01493" "Isolated (sporadic)" "" "CMT3, DSS" "1y" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000159129" "05113" "00210564" "01493" "Isolated (sporadic)" "" "CMT3, DSS" "1y" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000167582" "05113" "00219025" "00006" "Unknown" "" "CMT1A, CMT1E, HNPP, Dejerine-Sottas; no family history" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167583" "05113" "00219026" "00006" "Unknown" "" "CMT1A, CMT1E, HNPP, Dejerine-Sottas; no family history" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167584" "05113" "00219027" "00006" "Unknown" "" "CMT1A, CMT1E, HNPP, Dejerine-Sottas; no family history" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167585" "05113" "00219028" "00006" "Unknown" "" "CMT1A, CMT1E, HNPP, Dejerine-Sottas; no family history" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167586" "05113" "00219029" "00006" "Familial, autosomal dominant" "" "CMT1A, CMT1E, HNPP, Dejerine-Sottas" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167587" "01467" "00219030" "00006" "Familial, autosomal dominant" "" "HNPP" "" "" "" "" "" "" "" "" "HNPP" "hereditary neuropathy with liability pressure palsies" "" "0000167588" "01467" "00219031" "00006" "Familial, autosomal dominant" "" "HNPP" "" "" "" "" "" "" "" "" "HNPP" "hereditary neuropathy with liability pressure palsies" "" "0000167589" "01467" "00219032" "00006" "Unknown" "" "HNPP; no family history" "" "" "" "" "" "" "" "" "HNPP" "hereditary neuropathy with liability pressure palsies" "" "0000167590" "05113" "00219033" "00006" "Familial, autosomal dominant" "" "CMT1A" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167591" "05113" "00219034" "00006" "Unknown" "" "CMT1A; no family history" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167592" "05113" "00219035" "00006" "Unknown" "" "CMT1A" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167593" "05113" "00219036" "00006" "Unknown" "" "CMT1A; no family history" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167594" "05113" "00219037" "00006" "Unknown" "" "CMT1A; no family history" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167595" "05113" "00219038" "00006" "Familial, autosomal dominant" "" "CMT1A" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167596" "05113" "00219039" "00006" "Unknown" "" "CMT1A; no family history" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167597" "05113" "00219040" "00006" "Unknown" "" "CMT1A" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167598" "05113" "00219041" "00006" "Familial, autosomal dominant" "" "CMT1A" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167599" "05113" "00219042" "00006" "Familial, autosomal dominant" "" "CMT1A" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167600" "05113" "00219043" "00006" "Familial, autosomal dominant" "" "CMT1A" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000167601" "05113" "00219044" "00006" "Unknown" "" "CMT1A; no family history" "" "" "" "" "" "" "" "" "CMT-1A" "Charcot-Marie-Tooth diseae" "" "0000223963" "05384" "00296557" "00006" "Isolated (sporadic)" "16y" "no upper limb weakness; lower limb pes cavus, tight Achilles tendon; chronic denervation in legs" "" "" "" "" "" "" "" "" "CMT2D;HMN5A" "neuropathy" "" "0000223967" "00198" "00296561" "01164" "Unknown" "" "Sensory impairment (HP:0003474); Peripheral neuropathy (HP:0009830)" "" "" "" "" "" "" "" "" "" "" "" "0000224261" "00198" "00296864" "01164" "Unknown" "" "Sensorimotor neuropathy (HP:0007141); Peripheral neuropathy (HP:0009830)" "" "" "" "" "" "" "" "" "" "" "" "0000227341" "00199" "00300020" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227342" "00199" "00300021" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227343" "00199" "00300022" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227344" "00199" "00300023" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227405" "05111" "00300084" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227406" "05113" "00300085" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227407" "00199" "00300086" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227435" "05384" "00300114" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "complex inherited peripheral neuropathy" "" "0000227462" "05111" "00300141" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227472" "05111" "00300151" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227475" "05122" "00300154" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "hereditary sensory neuropathy" "" "0000231408" "05126" "00305561" "00006" "Familial, autosomal recessive" "9y11m" "hyperCKemia with intermediate muscle weakness; delayed motor milestones; elevated serum CK (18,559 IU/L); unable to run; proximal muscle weakness; calf hypertrophy; tendon contractures; no scapular winging; no muscle pain; muscle biopsy dystrophic" "2y" "" "delayed motor milestones" "IHC SGCA absent, SGCB absent, SGCG absent" "" "" "" "" "LGMD2D;CMT1A" "limb-girdle muscular dystrophy" "" "0000269828" "00198" "00374618" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000301060" "04214" "00408942" "00000" "Familial, autosomal dominant" "86y" "balance disorder, progressive hearing loss" "68y" "" "Sensori?motor Demyelinating, pes cavus" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" "0000301062" "04214" "00408944" "00000" "Familial, autosomal dominant" "60y" "balance disorder, moderate hearing loss" "" "" "Demyelinating" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" "0000301064" "04214" "00408946" "00000" "Familial, autosomal dominant" "69y" "severe form" "" "" "Sensori?motor Demyelinating" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" "0000301066" "04214" "00408948" "00000" "Familial, autosomal dominant" "33y" "tomacular neuropathy, severe auditory neuropathy hearing loss" "20y" "" "Sensori?motor Demyelinating, pes cavus" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" "0000301067" "04214" "00408949" "00000" "Familial, autosomal dominant" "68y" "balance disorders, cochlear implantation, severe to profound auditory neuropathy hearing loss" "50y" "" "Sensori?motor Demyelinating" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" "0000306185" "00198" "00414350" "00000" "Unknown" "31y" "Charcot-Marie-Tooth disease;Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss" "" "" "" "" "" "" "" "" "" "" "" "0000306200" "00198" "00414365" "00000" "Familial, autosomal dominant" "25y" "Slowed Nerve Conduction Velocity;Charcot-Marie-Tooth disease" "" "" "" "" "" "" "" "" "" "" "" "0000306281" "00198" "00414446" "00000" "Familial, autosomal dominant" "21y" "" "" "" "" "" "" "" "" "" "Hereditary Neuropathy With Liability To Pressure Palsies" "" "" "0000306284" "00198" "00414449" "00000" "Familial, autosomal dominant" "52y" "" "" "" "" "" "" "" "" "" "Hereditary Neuropathy With Liability To Pressure Palsies" "" "" "0000306287" "00198" "00414452" "00000" "Familial, autosomal dominant" "37y" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "" "0000306317" "00198" "00414482" "00000" "Familial, autosomal dominant" "45y" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "" "0000347886" "01273" "00460161" "00006" "Unknown" "58y" "see paper; ..., 14m-walk; 3y-muscle cramps, fatiguability; persistently high serum creatine kinase; 11y-slowed conduction velocity; 25y-gradually weaker, particularly legs, ankle contractures, ankle contractures; 57y-muscle atrophy scapular girdle, anterior compartment arm, forearm, hand, pelvic girdle, anterior/posterior compartment legs, could abduct arms only to 45deg, sit, not stand, not walk, proximal/distal bilateral weakness all four limbs, no deep tendon reflexes; maternal uncle severe muscle weakness, 40y-lost ambulation, 65y-deceased cardio(myopathy), no PMP22 duplication" "" "" "" "" "" "" "" "" "CMT1A;BMD" "persistent hyperCKemia" "" "0000352269" "01467" "00467062" "04175" "Familial, autosomal dominant" "" "experienced frequent episodes of numbness and tingling in hands, episode of paresis" "" "" "" "" "" "" "" "" "HNNP" "hereditary neuropathy with liability pressure palsies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 147 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000009" "00000009" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000036569" "00036499" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036570" "00036500" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036571" "00036501" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036572" "00036502" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036573" "00036503" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036574" "00036504" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036575" "00036505" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036576" "00036506" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036577" "00036507" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036578" "00036508" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036579" "00036509" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036580" "00036510" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036581" "00036511" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000150973" "00150118" "0" "01807" "01807" "2018-01-11 14:08:57" "" "" "SEQ" "DNA" "" "" "0000208621" "00207584" "1" "02371" "02371" "2018-11-25 18:26:58" "" "" "SEQ-NG" "DNA" "" "" "0000208969" "00207924" "1" "01164" "01164" "2018-12-04 16:33:09" "" "" "SEQ-NG" "DNA" "" "" "0000211065" "00210008" "1" "01164" "01164" "2018-12-25 09:53:54" "" "" "SEQ-NG" "DNA" "" "" "0000211639" "00210563" "1" "01493" "00006" "2012-05-14 17:23:34" "" "" "SEQ" "DNA" "" "" "0000211640" "00210564" "1" "01493" "00006" "2012-05-14 17:29:03" "" "" "SEQ" "DNA" "" "" "0000211641" "00210565" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211642" "00210566" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211643" "00210567" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211644" "00210568" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211645" "00210569" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211646" "00210570" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211647" "00210571" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211648" "00210572" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211649" "00210573" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211650" "00210574" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211651" "00210575" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211652" "00210576" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211653" "00210577" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211654" "00210578" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211655" "00210579" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211656" "00210580" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211657" "00210581" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211658" "00210582" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211659" "00210583" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211660" "00210584" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211661" "00210585" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211662" "00210586" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211663" "00210587" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211664" "00210588" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211665" "00210589" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211666" "00210590" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211667" "00210591" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211668" "00210592" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211669" "00210593" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211670" "00210594" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211671" "00210595" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211672" "00210596" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211673" "00210597" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211674" "00210598" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211675" "00210599" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211676" "00210600" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211677" "00210601" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211678" "00210602" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211679" "00210603" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211680" "00210604" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211681" "00210605" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211682" "00210606" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211683" "00210607" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211684" "00210608" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211685" "00210609" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211686" "00210610" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211687" "00210611" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211688" "00210612" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211689" "00210613" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211690" "00210614" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211691" "00210615" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211692" "00210616" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211693" "00210617" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211694" "00210618" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211695" "00210619" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211696" "00210620" "1" "00006" "00006" "2012-11-07 11:48:26" "" "" "SEQ" "DNA" "" "" "0000211697" "00210621" "1" "00006" "00006" "2012-11-07 11:48:27" "" "" "SEQ" "DNA" "" "" "0000211698" "00210622" "1" "00006" "00006" "2012-11-07 11:48:27" "" "" "SEQ" "DNA" "" "" "0000211699" "00210623" "1" "00006" "00006" "2012-11-07 11:48:27" "" "" "SEQ" "DNA" "" "" "0000211700" "00210624" "1" "00006" "00006" "2012-11-07 11:48:27" "" "" "SEQ" "DNA" "" "" "0000211701" "00210625" "1" "00006" "00006" "2012-11-07 11:48:27" "" "" "SEQ" "DNA" "" "" "0000211702" "00210626" "1" "00006" "00006" "2012-11-07 11:48:27" "" "" "SEQ" "DNA" "" "" "0000211703" "00210627" "1" "00006" "00006" "2012-11-07 11:48:27" "" "" "SEQ" "DNA" "" "" "0000211704" "00210628" "1" "00006" "00006" "2012-11-07 11:48:27" "" "" "SEQ" "DNA" "" "" "0000211705" "00210629" "1" "00006" "00006" "2012-11-07 11:48:27" "" "" "SEQ" "DNA" "" "" "0000220097" "00219025" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220098" "00219026" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220099" "00219027" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220100" "00219028" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220101" "00219029" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220102" "00219030" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220103" "00219031" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220104" "00219032" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220105" "00219033" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220106" "00219034" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220107" "00219035" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220108" "00219036" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220109" "00219037" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220110" "00219038" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220111" "00219039" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220112" "00219040" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220113" "00219041" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220114" "00219042" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220115" "00219043" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000220116" "00219044" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG;MLPA" "DNA" "" "targeted multigene panel" "0000230693" "00229601" "1" "03239" "03239" "2019-04-04 20:43:47" "" "" "SEQ" "DNA" "" "" "0000230695" "00229603" "1" "03239" "03239" "2019-04-04 20:51:35" "" "" "SEQ" "DNA" "" "" "0000230696" "00229604" "1" "03239" "03239" "2019-04-04 20:58:40" "" "" "SEQ" "DNA" "" "" "0000230697" "00229605" "1" "03239" "03239" "2019-04-04 21:03:41" "" "" "SEQ" "DNA" "" "" "0000245538" "00244426" "1" "03347" "03347" "2019-06-24 10:32:24" "" "" "PCR;SEQ" "DNA" "" "" "0000265066" "00263956" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265067" "00263957" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000292802" "00291634" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292803" "00291635" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292804" "00291636" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297667" "00296557" "1" "00006" "00006" "2020-04-08 10:32:01" "" "" "SEQ" "DNA" "" "WES" "0000297671" "00296561" "1" "01164" "01164" "2020-04-08 14:09:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000297974" "00296864" "1" "01164" "01164" "2020-04-14 14:26:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000301136" "00300020" "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" "0000301138" "00300022" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301139" "00300023" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301200" "00300084" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301201" "00300085" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301202" "00300086" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301230" "00300114" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301257" "00300141" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301267" "00300151" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301270" "00300154" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000305693" "00304564" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305694" "00304565" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306690" "00305561" "1" "00006" "00006" "2020-06-30 17:17:40" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000312280" "00311126" "1" "03752" "00006" "2020-09-18 15:58:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000375812" "00374618" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000410207" "00408942" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000410209" "00408944" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000410211" "00408946" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000410213" "00408948" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000410214" "00408949" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000415630" "00414350" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415645" "00414365" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415726" "00414446" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415729" "00414449" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415732" "00414452" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415762" "00414482" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000461791" "00460161" "1" "00006" "00006" "2025-01-18 16:00:46" "00006" "2025-01-18 16:05:34" "SEQ" "DNA" "" "" "0000468724" "00467062" "1" "04175" "04175" "2025-10-07 13:26:18" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 162 "{{screeningid}}" "{{geneid}}" "0000000009" "ACADM" "0000000009" "ARSB" "0000000009" "ATP7B" "0000000009" "CFTR" "0000000009" "CLN3" "0000000009" "ETFB" "0000000009" "GAN" "0000000009" "GLB1" "0000000009" "HEXB" "0000000009" "IGHMBP2" "0000000009" "MEFV" "0000000009" "NHLRC1" "0000000009" "NPHS1" "0000000009" "NTRK1" "0000000009" "PMP22" "0000000009" "SERPINA1" "0000000009" "WNT10A" "0000036569" "PMP22" "0000036570" "PMP22" "0000036571" "PMP22" "0000036572" "PMP22" "0000036573" "PMP22" "0000036574" "PMP22" "0000036575" "PMP22" "0000036576" "PMP22" "0000036577" "PMP22" "0000036578" "PMP22" "0000036579" "PMP22" "0000036580" "PMP22" "0000036581" "PMP22" "0000208621" "PMP22" "0000211639" "PMP22" "0000211640" "PMP22" "0000211641" "PMP22" "0000211642" "PMP22" "0000211643" "PMP22" "0000211644" "PMP22" "0000211645" "PMP22" "0000211646" "PMP22" "0000211647" "PMP22" "0000211648" "PMP22" "0000211649" "PMP22" "0000211650" "PMP22" "0000211651" "PMP22" "0000211652" "PMP22" "0000211653" "PMP22" "0000211654" "PMP22" "0000211655" "PMP22" "0000211656" "PMP22" "0000211657" "PMP22" "0000211658" "PMP22" "0000211659" "PMP22" "0000211660" "PMP22" "0000211661" "PMP22" "0000211662" "PMP22" "0000211663" "PMP22" "0000211664" "PMP22" "0000211665" "PMP22" "0000211666" "PMP22" "0000211667" "PMP22" "0000211668" "PMP22" "0000211669" "PMP22" "0000211670" "PMP22" "0000211671" "PMP22" "0000211672" "PMP22" "0000211673" "PMP22" "0000211674" "PMP22" "0000211675" "PMP22" "0000211676" "PMP22" "0000211677" "PMP22" "0000211678" "PMP22" "0000211679" "PMP22" "0000211680" "PMP22" "0000211681" "PMP22" "0000211682" "PMP22" "0000211683" "PMP22" "0000211684" "PMP22" "0000211685" "PMP22" "0000211686" "PMP22" "0000211687" "PMP22" "0000211688" "PMP22" "0000211689" "PMP22" "0000211690" "PMP22" "0000211691" "PMP22" "0000211692" "PMP22" "0000211693" "PMP22" "0000211694" "PMP22" "0000211695" "PMP22" "0000211696" "PMP22" "0000211697" "PMP22" "0000211698" "PMP22" "0000211699" "PMP22" "0000211700" "PMP22" "0000211701" "PMP22" "0000211702" "PMP22" "0000211703" "PMP22" "0000211704" "PMP22" "0000211705" "PMP22" "0000220097" "PMP22" "0000220098" "PMP22" "0000220099" "PMP22" "0000220100" "PMP22" "0000220101" "PMP22" "0000220102" "PMP22" "0000220103" "PMP22" "0000220104" "PMP22" "0000220105" "PMP22" "0000220106" "PMP22" "0000220107" "PMP22" "0000220108" "PMP22" "0000220109" "PMP22" "0000220110" "PMP22" "0000220111" "PMP22" "0000220112" "PMP22" "0000220113" "PMP22" "0000220114" "PMP22" "0000220115" "PMP22" "0000220116" "PMP22" "0000230693" "PMP22" "0000230695" "PMP22" "0000230696" "PMP22" "0000230697" "PMP22" "0000245538" "PMP22" "0000265066" "PMP22" "0000265067" "PMP22" "0000297667" "GARS" "0000301136" "PMP22" "0000301137" "GJB1" "0000301137" "PMP22" "0000301138" "PMP22" "0000301139" "PMP22" "0000301200" "MED25" "0000301200" "PMP22" "0000301201" "PMP22" "0000301202" "PMP22" "0000301230" "PMP22" "0000301230" "SH3TC2" "0000301257" "DYNC1H1" "0000301257" "PMP22" "0000301257" "REEP1" "0000301267" "GARS" "0000301267" "PMP22" "0000301270" "PMP22" "0000306690" "PMP22" "0000306690" "SGCA" "0000312280" "MYH7" "0000312280" "PMP22" "0000375812" "PMP22" "0000410207" "PMP22" "0000410209" "PMP22" "0000410211" "PMP22" "0000410213" "PMP22" "0000410214" "PMP22" "0000415630" "PMP22" "0000415645" "ARHGEF10" "0000415726" "PMP22" "0000415729" "PMP22" "0000415732" "PMP22" "0000415762" "PMP22" "0000461791" "DMD" "0000461791" "PMP22" "0000468724" "PMP22" ## 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 = 231 "{{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}}" "0000000668" "0" "50" "17" "15134364" "15134364" "subst" "0.00402708" "00002" "PMP22_000046" "g.15134364G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15231047G>A" "" "VUS" "" "0000063694" "1" "10" "17" "15142754" "15142754" "subst" "0.00149454" "01164" "PMP22_000067" "g.15142754C>T" "" "" "" "" "" "Germline" "" "rs78099380" "0" "" "" "g.15239437C>T" "" "benign" "" "0000063695" "1" "90" "17" "15134399" "15134399" "subst" "0" "01164" "PMP22_000098" "g.15134399T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15231082T>C" "" "pathogenic" "" "0000063696" "1" "50" "17" "15142847" "15142847" "subst" "0" "01164" "PMP22_000068" "g.15142847A>G" "" "" "" "" "PolyPhen-2 : prob.dam. (PSIC: 1,0)" "Germline" "" "" "0" "" "" "g.15239530A>G" "" "VUS" "" "0000063697" "1" "10" "17" "15162389" "15162389" "subst" "0.539367" "01164" "PMP22_000071" "g.15162389T>C" "" "" "" "" "" "Germline" "" "rs231020" "0" "" "" "g.15259072T>C" "" "benign" "" "0000063698" "1" "50" "17" "15162404" "15162404" "subst" "0.00096372" "01164" "PMP22_000072" "g.15162404G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15259087G>T" "" "VUS" "" "0000063699" "1" "10" "17" "15134321" "15134321" "subst" "0.00175946" "01164" "PMP22_000077" "g.15134321G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15231004G>A" "" "benign" "" "0000063700" "1" "90" "17" "15163966" "15163966" "subst" "0" "01164" "PMP22_000074" "g.15163966C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15260649C>A" "" "pathogenic" "" "0000063701" "1" "90" "17" "15142907" "15142907" "subst" "0" "01164" "PMP22_000070" "g.15142907G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15239590G>T" "" "pathogenic" "" "0000063702" "1" "50" "17" "15164102" "15164102" "subst" "0" "01164" "PMP22_000075" "g.15164102A>G" "" "" "" "" "c.-34-24T>C (Alamut)" "Germline" "" "" "0" "" "" "g.15260785A>G" "" "VUS" "" "0000063703" "1" "50" "17" "15133569" "15133578" "del" "0" "01164" "PMP22_000078" "g.15133569_15133578del" "" "" "" "*656_665del AGTGACAACA" "" "Germline" "" "" "0" "" "" "g.15230252_15230261del" "" "VUS" "" "0000063704" "1" "90" "17" "15134288" "15134288" "del" "0" "01164" "PMP22_000076" "g.15134288del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15230971del" "" "pathogenic" "" "0000063705" "1" "50" "17" "15162533" "15162533" "subst" "0.000289166" "01164" "PMP22_000073" "g.15162533C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15259216C>T" "" "VUS" "" "0000063706" "1" "50" "17" "15142871" "15142871" "subst" "0" "01164" "PMP22_000069" "g.15142871G>A" "" "" "" "" "p.(Ser79Cys) described as pathogenic(Roa 1993), also c.235T>C; p. Ser79Pro (Bort 1998)" "Germline" "" "" "0" "" "" "g.15239554G>A" "" "VUS" "" "0000244121" "0" "70" "17" "15163965" "15163969" "del" "0" "01807" "PMP22_000079" "g.15163965_15163969delinsG" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.15260648_15260652delinsG" "" "likely pathogenic" "" "0000247456" "0" "10" "17" "15134218" "15134218" "subst" "0" "02330" "PMP22_000081" "g.15134218A>T" "" "" "" "PMP22(NM_000304.4):c.*16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15230901A>T" "" "benign" "" "0000247471" "0" "90" "17" "15134392" "15134392" "subst" "0" "02330" "PMP22_000001" "g.15134392A>G" "" "" "" "PMP22(NM_000304.4):c.325T>C (p.C109R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15231075A>G" "" "pathogenic" "" "0000247472" "0" "90" "17" "15142793" "15142793" "subst" "0" "02330" "PMP22_000037" "g.15142793A>C" "" "" "" "PMP22(NM_000304.4):c.314T>G (p.L105R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239476A>C" "" "pathogenic" "" "0000247473" "0" "90" "17" "15134277" "15134277" "subst" "0" "02330" "PMP22_000053" "g.15134277A>C" "" "" "" "PMP22(NM_000304.4):c.440T>G (p.L147R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15230960A>C" "" "pathogenic" "" "0000247474" "0" "90" "17" "15163998" "15163998" "subst" "0" "02330" "PMP22_000061" "g.15163998A>G" "" "" "" "PMP22(NM_000304.4):c.47T>C (p.L16P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15260681A>G" "" "pathogenic" "" "0000247475" "0" "90" "17" "15163989" "15163989" "subst" "0" "02330" "PMP22_000062" "g.15163989A>G" "" "" "" "PMP22(NM_000304.4):c.56T>C (p.L19P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15260672A>G" "" "pathogenic" "" "0000247476" "0" "90" "17" "15142895" "15142895" "subst" "0" "02330" "PMP22_000014" "g.15142895A>G" "" "" "" "PMP22(NM_000304.4):c.212T>C (p.L71P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239578A>G" "" "pathogenic" "" "0000247477" "0" "90" "17" "15142868" "15142868" "subst" "0" "02330" "PMP22_000028" "g.15142868A>G" "" "" "" "PMP22(NM_000304.4):c.239T>C (p.L80P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239551A>G" "" "pathogenic" "" "0000247478" "0" "90" "17" "15142901" "15142901" "subst" "0" "02330" "PMP22_000012" "g.15142901A>T" "" "" "" "PMP22(NM_000304.4):c.206T>A (p.M69K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239584A>T" "" "pathogenic" "" "0000247479" "0" "90" "17" "15142893" "15142893" "subst" "0" "02330" "PMP22_000015" "g.15142893A>G" "" "" "" "PMP22(NM_000304.4):c.214T>C (p.S72P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239576A>G" "" "pathogenic" "" "0000247480" "0" "90" "17" "15142872" "15142872" "subst" "0" "02330" "PMP22_000028" "g.15142872A>G" "" "" "" "PMP22(NM_000304.4):c.235T>C (p.S79P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239555A>G" "" "pathogenic" "" "0000247481" "0" "90" "17" "15162507" "15162507" "subst" "0" "02330" "PMP22_000066" "g.15162507A>G" "" "" "" "PMP22(NM_000304.4):c.82T>C (p.W28R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15259190A>G" "" "pathogenic" "" "0000247484" "0" "50" "17" "15142922" "15142922" "subst" "2.84599E-5" "02330" "PMP22_000088" "g.15142922A>C" "" "" "" "PMP22(NM_000304.4):c.185T>G (p.L62R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239605A>C" "" "VUS" "" "0000293980" "0" "10" "17" "15168570" "15168570" "subst" "0" "02330" "PMP22_000096" "g.15168570C>T" "" "" "" "PMP22(NM_000304.4):c.-134G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15265253C>T" "" "benign" "" "0000293981" "0" "10" "17" "15168577" "15168577" "subst" "0" "02330" "PMP22_000097" "g.15168577G>C" "" "" "" "PMP22(NM_000304.4):c.-141C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15265260G>C" "" "benign" "" "0000293982" "0" "10" "17" "15168476" "15168476" "subst" "0" "02330" "PMP22_000095" "g.15168476C>T" "" "" "" "PMP22(NM_000304.4):c.-40G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15265159C>T" "" "benign" "" "0000293983" "0" "10" "17" "15134175" "15134175" "subst" "0.527136" "02330" "PMP22_000080" "g.15134175T>G" "" "" "" "PMP22(NM_000304.2):c.*59A>C, PMP22(NM_000304.4):c.*59A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15230858T>G" "" "benign" "" "0000293984" "0" "90" "17" "15162479" "15162479" "subst" "0" "02330" "PMP22_000003" "g.15162479T>A" "" "" "" "PMP22(NM_000304.4):c.110A>T (p.D37V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15259162T>A" "" "pathogenic" "" "0000293985" "0" "90" "17" "15162410" "15162410" "subst" "0" "02330" "PMP22_000092" "g.15162410C>G" "" "" "" "PMP22(NM_000304.4):c.178+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15259093C>G" "" "pathogenic" "" "0000293986" "0" "90" "17" "15142929" "15142929" "subst" "0" "02330" "PMP22_000089" "g.15142929C>G" "" "" "" "PMP22(NM_000304.4):c.179-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239612C>G" "" "pathogenic" "" "0000293987" "0" "90" "17" "15142930" "15142930" "subst" "0" "02330" "PMP22_000091" "g.15142930T>C" "" "" "" "PMP22(NM_000304.4):c.179-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239613T>C" "" "pathogenic" "" "0000293988" "0" "90" "17" "15142924" "15142924" "subst" "0" "02330" "PMP22_000007" "g.15142924C>T" "" "" "" "PMP22(NM_000304.4):c.183G>A (p.W61*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239607C>T" "" "pathogenic" "" "0000293989" "0" "90" "17" "15142914" "15142914" "subst" "0" "02330" "PMP22_000009" "g.15142914C>A" "" "" "" "PMP22(NM_000304.4):c.193G>T (p.V65F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239597C>A" "" "pathogenic" "" "0000293990" "0" "90" "17" "15142908" "15142908" "subst" "0" "02330" "PMP22_000010" "g.15142908C>T" "" "" "" "PMP22(NM_000304.4):c.199G>A (p.A67T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239591C>T" "" "pathogenic" "" "0000293991" "0" "90" "17" "15142908" "15142908" "subst" "0" "02330" "PMP22_000011" "g.15142908C>G" "" "" "" "PMP22(NM_000304.4):c.199G>C (p.A67P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239591C>G" "" "pathogenic" "" "0000293992" "0" "90" "17" "15142892" "15142892" "subst" "0" "02330" "PMP22_000016" "g.15142892G>C" "" "" "" "PMP22(NM_000304.4):c.215C>G (p.S72W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239575G>C" "" "pathogenic" "" "0000293993" "0" "90" "17" "15142892" "15142892" "subst" "0" "02330" "PMP22_000002" "g.15142892G>A" "" "" "" "PMP22(NM_000304.4):c.215C>T (p.S72L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239575G>A" "" "pathogenic" "" "0000293994" "0" "90" "17" "15142880" "15142880" "subst" "0" "02330" "PMP22_000018" "g.15142880C>A" "" "" "" "PMP22(NM_000304.4):c.227G>T (p.S76I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239563C>A" "" "pathogenic" "" "0000293995" "0" "90" "17" "15142871" "15142871" "subst" "0" "02330" "PMP22_000028" "g.15142871G>C" "" "" "" "PMP22(NM_000304.4):c.236C>G (p.S79C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239554G>C" "" "pathogenic" "" "0000293996" "0" "90" "17" "15142851" "15142851" "subst" "0" "02330" "PMP22_000028" "g.15142851G>A" "" "" "" "PMP22(NM_000304.4):c.256C>T (p.Q86*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239534G>A" "" "pathogenic" "" "0000293997" "0" "90" "17" "15142830" "15142830" "subst" "4.06081E-5" "02330" "PMP22_000028" "g.15142830C>G" "" "" "" "PMP22(NM_000304.4):c.277G>C (p.G93R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239513C>G" "" "pathogenic" "" "0000293998" "0" "90" "17" "15142831" "15142831" "dup" "0" "02330" "PMP22_000087" "g.15142831dup" "" "" "" "PMP22(NM_000304.4):c.281dupG (p.R95Qfs*128)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239514dup" "" "pathogenic" "" "0000293999" "0" "90" "17" "15142809" "15142809" "subst" "0" "02330" "PMP22_000032" "g.15142809C>T" "" "" "" "PMP22(NM_000304.4):c.298G>A (p.G100R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239492C>T" "" "pathogenic" "" "0000294000" "0" "90" "17" "15142808" "15142808" "subst" "0" "02330" "PMP22_000033" "g.15142808C>T" "" "" "" "PMP22(NM_000304.4):c.299G>A (p.G100E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239491C>T" "" "pathogenic" "" "0000294001" "0" "90" "17" "15142787" "15142787" "subst" "0" "02330" "PMP22_000086" "g.15142787C>T" "" "" "" "PMP22(NM_000304.4):c.319+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239470C>T" "" "pathogenic" "" "0000294002" "0" "90" "17" "15134397" "15134397" "subst" "0" "02330" "PMP22_000039" "g.15134397C>A" "" "" "" "PMP22(NM_000304.4):c.320G>T (p.G107V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15231080C>A" "" "pathogenic" "" "0000294003" "0" "90" "17" "15134390" "15134390" "subst" "0" "02330" "PMP22_000041" "g.15134390G>T" "" "" "" "PMP22(NM_000304.4):c.327C>A (p.C109*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15231073G>T" "" "pathogenic" "" "0000294004" "0" "10" "17" "15134390" "15134390" "subst" "8.15714E-6" "02330" "PMP22_000085" "g.15134390G>A" "" "" "" "PMP22(NM_000304.4):c.327C>T (p.C109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15231073G>A" "" "benign" "" "0000294005" "0" "90" "17" "15164009" "15164009" "subst" "0" "02330" "PMP22_000048" "g.15164009G>T" "" "" "" "PMP22(NM_000304.4):c.36C>A (p.H12Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15260692G>T" "" "pathogenic" "" "0000294006" "0" "90" "17" "15134345" "15134345" "subst" "0" "02330" "PMP22_000084" "g.15134345C>T" "" "" "" "PMP22(NM_000304.4):c.372G>A (p.W124*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15231028C>T" "" "pathogenic" "" "0000294007" "0" "10" "17" "15134308" "15134308" "subst" "2.43772E-5" "02330" "PMP22_000083" "g.15134308T>C" "" "" "" "PMP22(NM_000304.4):c.409A>G (p.I137V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15230991T>C" "" "benign" "" "0000294008" "0" "90" "17" "15134288" "15134288" "dup" "0" "02330" "PMP22_000052" "g.15134288dup" "" "" "" "PMP22(NM_000304.4):c.433dupC (p.L145Pfs*78)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15230971dup" "" "pathogenic" "" "0000294009" "0" "90" "17" "15134270" "15134270" "subst" "0" "02330" "PMP22_000055" "g.15134270G>T" "" "" "" "PMP22(NM_000304.4):c.447C>A (p.S149R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15230953G>T" "" "pathogenic" "" "0000294010" "0" "90" "17" "15134269" "15134269" "subst" "0" "02330" "PMP22_000056" "g.15134269C>A" "" "" "" "PMP22(NM_000304.4):c.448G>T (p.G150C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15230952C>A" "" "pathogenic" "" "0000294011" "0" "90" "17" "15134268" "15134268" "subst" "0" "02330" "PMP22_000057" "g.15134268C>T" "" "" "" "PMP22(NM_000304.4):c.449G>A (p.G150D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15230951C>T" "" "pathogenic" "" "0000294012" "0" "10" "17" "15134249" "15134249" "subst" "4.06564E-6" "02330" "PMP22_000082" "g.15134249C>T" "" "" "" "PMP22(NM_000304.4):c.468G>A (p.L156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15230932C>T" "" "benign" "" "0000294013" "0" "90" "17" "15134248" "15134248" "subst" "4.06666E-6" "02330" "PMP22_000059" "g.15134248G>A" "" "" "" "PMP22(NM_000304.4):c.469C>T (p.R157W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15230931G>A" "" "pathogenic" "" "0000294014" "0" "90" "17" "15163980" "15163980" "subst" "0" "02330" "PMP22_000063" "g.15163980G>A" "" "" "" "PMP22(NM_000304.4):c.65C>T (p.S22F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15260663G>A" "" "pathogenic" "" "0000294015" "0" "90" "17" "15163977" "15163977" "subst" "0" "02330" "PMP22_000064" "g.15163977G>C" "" "" "" "PMP22(NM_000304.4):c.68C>G (p.T23R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15260660G>C" "" "pathogenic" "" "0000294016" "0" "90" "17" "15163966" "15163966" "subst" "0" "02330" "PMP22_000074" "g.15163966C>A" "" "" "" "PMP22(NM_000304.4):c.78+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15260649C>A" "" "pathogenic" "" "0000294017" "0" "10" "17" "15162502" "15162502" "subst" "6.49862E-5" "02330" "PMP22_000093" "g.15162502G>A" "" "" "" "PMP22(NM_000304.4):c.87C>T (p.I29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15259185G>A" "" "benign" "" "0000294018" "0" "90" "17" "15162501" "15162501" "subst" "2.84308E-5" "02330" "PMP22_000028" "g.15162501C>T" "" "" "" "PMP22(NM_000304.4):c.88G>A (p.V30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15259184C>T" "" "pathogenic" "" "0000297147" "0" "10" "17" "15134175" "15134175" "subst" "0.527136" "02325" "PMP22_000080" "g.15134175T>G" "" "" "" "PMP22(NM_000304.2):c.*59A>C, PMP22(NM_000304.4):c.*59A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15230858T>G" "" "benign" "" "0000301058" "0" "90" "17" "15142929" "15142929" "subst" "0" "02326" "PMP22_000090" "g.15142929C>T" "" "" "" "PMP22(NM_000304.2):c.179-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239612C>T" "" "pathogenic" "" "0000301059" "0" "10" "17" "15162516" "15162516" "subst" "0.00131238" "02326" "PMP22_000094" "g.15162516G>A" "" "" "" "PMP22(NM_000304.2):c.79-6C>T, PMP22(NM_000304.4):c.79-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15259199G>A" "" "benign" "" "0000343514" "0" "90" "17" "15142831" "15142831" "dup" "0" "02327" "PMP22_000030" "g.15142831dup" "" "" "" "PMP22(NM_000304.4):c.281dupG (p.R95Qfs*128)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15239514dup" "" "pathogenic" "" "0000438538" "1" "90" "17" "15134283" "15134283" "del" "4.06322E-6" "02371" "PMP22_000099" "g.15134283del" "" "" "" "434delT" "" "Germline" "yes" "" "0" "" "" "g.15230966del" "" "pathogenic" "" "0000439032" "0" "50" "17" "15134364" "15134364" "subst" "0.00402708" "01164" "PMP22_000046" "g.15134364G>A" "" "" "" "" "ACMG grading: BS1,BP5,PP3,PP5; clinical suspicion of HMSN, father PNP.; reported in Bell (2011) Sci Transl Med 3: Severe recessive disease-causing mutation HNPP Shy Ann Neurol. 2006 Feb,59(2):358-6," "Germline" "" "rs104894619" "0" "" "" "g.15231047G>A" "" "VUS" "ACMG" "0000442483" "0" "50" "17" "15134364" "15134364" "subst" "0.00402708" "01164" "PMP22_000046" "g.15134364G>A" "" "" "" "" "ACMG grading: PP5,BP5,BS1,PP3; reported in Bell (2011) Sci Transl Med 3:; Shy Ann Neurol. 2006 Feb,59(2):358-6," "Germline" "" "rs104894619" "0" "" "" "g.15231047G>A" "" "VUS" "ACMG" "0000443240" "1" "90" "17" "15134392" "15134392" "subst" "0" "01493" "PMP22_000001" "g.15134392A>G" "1/25" "" "" "" "" "De novo" "" "" "0" "" "" "g.15231075A>G" "" "pathogenic" "" "0000443241" "1" "90" "17" "15142892" "15142892" "subst" "0" "01493" "PMP22_000002" "g.15142892G>A" "1/25" "" "" "" "" "De novo" "" "" "0" "" "" "g.15239575G>A" "" "pathogenic" "" "0000443242" "0" "90" "17" "15162479" "15162479" "subst" "0" "00006" "PMP22_000003" "g.15162479T>A" "" "{PMID:Fabrizi 1999:10489052}" "" "" "" "Germline" "" "" "0" "" "" "g.15259162T>A" "" "pathogenic" "" "0000443243" "0" "90" "17" "15164034" "15164034" "del" "0" "00006" "PMP22_000004" "g.15164034del" "" "{PMID:Muglia 2007:17707409}" "" "11delT" "" "Germline" "" "" "0" "" "" "g.15260717del" "" "pathogenic" "" "0000443244" "0" "90" "17" "15162459" "15162460" "del" "0" "00006" "PMP22_000005" "g.15162459_15162460del" "" "{PMID:Taioli 2011:21252112}" "" "130_131delAC" "" "Germline" "" "" "0" "" "" "g.15259142_15259143del" "" "pathogenic" "" "0000443245" "0" "90" "17" "15162405" "15162416" "del" "0" "00006" "PMP22_000006" "g.15162405_15162416del" "" "{PMID:Taioli 2011:21252112}" "" "174_178+7delAAACGGTGAGGC" "" "Germline" "" "" "0" "" "" "g.15259088_15259099del" "" "pathogenic" "" "0000443246" "0" "90" "17" "15142924" "15142924" "subst" "0" "00006" "PMP22_000007" "g.15142924C>T" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.15239607C>T" "" "pathogenic" "" "0000443247" "0" "90" "17" "15164026" "15164027" "del" "0" "00006" "PMP22_000008" "g.15164026_15164027del" "" "{PMID:Nicholson 1994:08012388}" "" "19_20delAG" "" "Germline" "" "" "0" "" "" "g.15260709_15260710del" "" "pathogenic" "" "0000443248" "0" "90" "17" "15142914" "15142914" "subst" "0" "00006" "PMP22_000009" "g.15142914C>A" "" "{PMID:Huehne 2003:12497641}" "" "" "" "Germline" "" "" "0" "" "" "g.15239597C>A" "" "pathogenic" "" "0000443249" "0" "90" "17" "15142908" "15142908" "subst" "0" "00006" "PMP22_000010" "g.15142908C>T" "" "{PMID:Nodera 2003:12796555}" "" "" "" "Germline" "" "" "0" "" "" "g.15239591C>T" "" "pathogenic" "" "0000443250" "0" "90" "17" "15142908" "15142908" "subst" "0" "00006" "PMP22_000011" "g.15142908C>G" "" "{PMID:Kovach 1999:10330345}" "" "" "" "Germline" "" "" "0" "" "" "g.15239591C>G" "" "pathogenic" "" "0000443251" "0" "90" "17" "15142901" "15142901" "subst" "0" "00006" "PMP22_000012" "g.15142901A>T" "" "{PMID:Roa 1993:08275092}" "" "" "" "Germline" "" "" "0" "" "" "g.15239584A>T" "" "pathogenic" "" "0000443252" "0" "90" "17" "15142901" "15142901" "subst" "0" "00006" "PMP22_000013" "g.15142901A>C" "" "{PMID:Russo 2011:21194947}" "" "" "" "Germline" "" "" "0" "" "" "g.15239584A>C" "" "pathogenic" "" "0000443253" "0" "90" "17" "15142895" "15142895" "subst" "0" "00006" "PMP22_000014" "g.15142895A>G" "" "{PMID:Boerkoel 2002:11835375}" "" "" "" "Germline" "" "" "0" "" "" "g.15239578A>G" "" "pathogenic" "" "0000443254" "0" "90" "17" "15142893" "15142893" "subst" "0" "00006" "PMP22_000015" "g.15142893A>G" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.15239576A>G" "" "pathogenic" "" "0000443255" "0" "90" "17" "15142892" "15142892" "subst" "0" "00006" "PMP22_000016" "g.15142892G>C" "" "{PMID:Tyson 1997:09055797}" "" "" "" "Germline" "" "" "0" "" "" "g.15239575G>C" "" "pathogenic" "" "0000443256" "0" "90" "17" "15142880" "15142880" "del" "0" "00006" "PMP22_000017" "g.15142880del" "" "{PMID:Luigetti 2008:18642376}" "" "227delG" "" "Germline" "" "" "0" "" "" "g.15239563del" "" "pathogenic" "" "0000443257" "0" "90" "17" "15142880" "15142880" "subst" "0" "00006" "PMP22_000018" "g.15142880C>A" "" "{PMID:Tyson 1997:09055797}" "" "" "" "Germline" "" "" "0" "" "" "g.15239563C>A" "" "pathogenic" "" "0000443258" "0" "90" "17" "15142874" "15142874" "subst" "0" "00006" "PMP22_000019" "g.15142874A>G" "" "{PMID:Pisciotta 2009:19909487}" "" "" "" "Germline" "" "" "0" "" "" "g.15239557A>G" "" "pathogenic" "" "0000443259" "0" "90" "17" "15142872" "15142872" "subst" "0" "00006" "PMP22_000020" "g.15142872A>T" "" "{PMID:Brožková 2011:22006697}" "" "" "" "Germline" "" "" "0" "" "" "g.15239555A>T" "" "pathogenic" "" "0000443260" "0" "90" "17" "15142872" "15142872" "subst" "0" "00006" "PMP22_000028" "g.15142872A>G" "" "{PMID:Bort 1998:09452053}" "" "" "" "Germline" "" "" "0" "" "" "g.15239555A>G" "" "pathogenic" "" "0000443261" "0" "90" "17" "15142871" "15142871" "subst" "0" "00006" "PMP22_000028" "g.15142871G>C" "" "{PMID:Roa 1993:08510709}" "" "" "" "Germline" "" "" "0" "" "" "g.15239554G>C" "" "pathogenic" "" "0000443262" "0" "90" "17" "15142871" "15142872" "del" "0" "00006" "PMP22_000023" "g.15142871_15142872del" "" "{PMID:Ikegami 1998:09544841}" "" "238_239delCT" "" "Germline" "" "" "0" "" "" "g.15239554_15239555del" "" "pathogenic" "" "0000443263" "0" "90" "17" "15142868" "15142868" "subst" "0" "00006" "PMP22_000028" "g.15142868A>G" "" "{PMID:Tyson 1997:09055797}" "" "" "" "Germline" "" "" "0" "" "" "g.15239551A>G" "" "pathogenic" "" "0000443264" "0" "90" "17" "15142868" "15142868" "subst" "0" "00006" "PMP22_000025" "g.15142868A>C" "" "{PMID:Gabreels-Festen 2002:12090401}" "" "" "" "Germline" "" "" "0" "" "" "g.15239551A>C" "" "pathogenic" "" "0000443265" "0" "90" "17" "15142858" "15142860" "del" "0" "00006" "PMP22_000026" "g.15142858_15142860del" "" "{PMID:Silander 1998:09633821}" "" "251_253delTCT" "" "Germline" "" "" "0" "" "" "g.15239541_15239543del" "" "pathogenic" "" "0000443266" "0" "90" "17" "15142851" "15142851" "subst" "0" "00006" "PMP22_000028" "g.15142851G>A" "" "{PMID:Numakura 2002:12402337}" "" "" "" "Germline" "" "" "0" "" "" "g.15239534G>A" "" "pathogenic" "" "0000443267" "0" "90" "17" "15142830" "15142830" "subst" "4.06081E-5" "00006" "PMP22_000028" "g.15142830C>G" "" "{PMID:Ohnishi 1995:08777804}" "" "" "" "Germline" "" "" "0" "" "" "g.15239513C>G" "" "pathogenic" "" "0000443268" "0" "90" "17" "15142831" "15142831" "del" "0" "00006" "PMP22_000029" "g.15142831del" "" "{PMID:Ionasescu 1997:09324088}" "" "281delG" "" "Germline" "" "" "0" "" "" "g.15239514del" "" "pathogenic" "" "0000443269" "0" "90" "17" "15142831" "15142831" "dup" "0" "00006" "PMP22_000030" "g.15142831dup" "" "{PMID:Young 1997:09040737}" "" "281dupG" "" "Germline" "" "" "0" "" "" "g.15239514dup" "" "pathogenic" "" "0000443270" "0" "90" "17" "15142810" "15142810" "del" "0" "00006" "PMP22_000031" "g.15142810del" "" "{PMID:Moszynska 2009:19830275}" "" "" "" "Germline" "" "" "0" "" "" "g.15239493del" "" "pathogenic" "" "0000443271" "0" "90" "17" "15142809" "15142809" "subst" "0" "00006" "PMP22_000032" "g.15142809C>T" "" "{PMID:Bort 1997:09187667}" "" "" "" "Germline" "" "" "0" "" "" "g.15239492C>T" "" "pathogenic" "" "0000443272" "0" "90" "17" "15142808" "15142808" "subst" "0" "00006" "PMP22_000033" "g.15142808C>T" "" "{PMID:Marques 1998:09585367}" "" "" "" "Germline" "" "" "0" "" "" "g.15239491C>T" "" "pathogenic" "" "0000443273" "0" "90" "17" "15142800" "15142800" "subst" "0" "00006" "PMP22_000034" "g.15142800G>A" "" "{PMID:Pisciotta 2009:19909487}" "" "" "" "Germline" "" "" "0" "" "" "g.15239483G>A" "" "pathogenic" "" "0000443274" "0" "90" "17" "15164010" "15164018" "del" "0" "00006" "PMP22_000035" "g.15164010_15164018del" "" "{PMID:Zhang 2009:19543269}" "" "31_39delCTCCACGTC" "" "Germline" "" "" "0" "" "" "g.15260693_15260701del" "" "pathogenic" "" "0000443275" "0" "90" "17" "15142796" "15142796" "del" "0" "00006" "PMP22_000036" "g.15142796del" "" "{PMID:Numakura 2002:12402337}" "" "312delT" "" "Germline" "" "" "0" "" "" "g.15239479del" "" "pathogenic" "" "0000443276" "0" "90" "17" "15142793" "15142793" "subst" "0" "00006" "PMP22_000037" "g.15142793A>C" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.15239476A>C" "" "pathogenic" "" "0000443277" "0" "90" "17" "15142789" "15142789" "del" "0" "00006" "PMP22_000038" "g.15142789del" "" "{PMID:Choi 2004:15241803}" "" "318delT" "" "Germline" "" "" "0" "" "" "g.15239472del" "" "pathogenic" "" "0000443278" "0" "90" "17" "15134397" "15134397" "subst" "0" "00006" "PMP22_000039" "g.15134397C>A" "" "{PMID:Marrosu 1997:09040744}" "" "" "" "Germline" "" "" "0" "" "" "g.15231080C>A" "" "pathogenic" "" "0000443279" "0" "90" "17" "15134394" "15134394" "subst" "0" "00006" "PMP22_000040" "g.15134394A>G" "" "{PMID:Zubair 2008:18592125}" "" "" "" "Germline" "" "" "0" "" "" "g.15231077A>G" "" "pathogenic" "" "0000443280" "0" "90" "17" "15134390" "15134390" "subst" "0" "00006" "PMP22_000041" "g.15134390G>T" "" "{PMID:Abe 2004:15099590}" "" "" "" "Germline" "" "" "0" "" "" "g.15231073G>T" "" "pathogenic" "" "0000443281" "0" "90" "17" "15134385" "15134385" "subst" "2.44429E-5" "00006" "PMP22_000042" "g.15134385A>G" "" "{PMID:Miltenberger-Miltenyi 2009:19259128}" "" "" "" "Germline" "" "" "0" "" "" "g.15231068A>G" "" "pathogenic" "" "0000443282" "0" "90" "17" "15134381" "15134381" "subst" "0" "00006" "PMP22_000043" "g.15134381A>C" "" "{PMID:Kabzinska 2010:20453308}" "" "" "" "Germline" "" "" "0" "" "" "g.15231064A>C" "" "pathogenic" "" "0000443283" "0" "90" "17" "15134365" "15134376" "del" "0" "00006" "PMP22_000044" "g.15134365_15134376del" "" "{PMID:Sambuughin 2003:12578939}" "" "344_355delCCATCTACACGG" "" "Germline" "" "" "0" "" "" "g.15231048_15231059del" "" "pathogenic" "" "0000443284" "0" "90" "17" "15134370" "15134371" "ins" "0" "00006" "PMP22_000045" "g.15134370_15134371insGG" "" "{PMID:Taioli 2011:21252112}" "" "" "" "Germline" "" "" "0" "" "" "g.15231053_15231054insGG" "" "pathogenic" "" "0000443285" "0" "90" "17" "15134364" "15134364" "subst" "0.00402708" "00006" "PMP22_000046" "g.15134364G>A" "" "{PMID:Roa 1993:08252046}" "" "" "" "Germline" "" "rs104894619" "0" "" "" "g.15231047G>A" "" "pathogenic" "" "0000443286" "0" "90" "17" "15134353" "15134354" "del" "0" "00006" "PMP22_000047" "g.15134353_15134354del" "" "{PMID:Bissar-Tadmouri 2000:11140841}" "" "364_365delCC" "" "Germline" "" "" "0" "" "" "g.15231036_15231037del" "" "pathogenic" "" "0000443287" "0" "90" "17" "15164009" "15164009" "subst" "0" "00006" "PMP22_000048" "g.15164009G>T" "" "{PMID:Valentijn 1995:07728152}" "" "" "" "Germline" "" "" "0" "" "" "g.15260692G>T" "" "pathogenic" "" "0000443288" "0" "90" "17" "15134325" "15134325" "subst" "0" "00006" "PMP22_000049" "g.15134325G>C" "" "{PMID:Russo 2011:21194947}" "" "" "" "Germline" "" "" "0" "" "" "g.15231008G>C" "" "pathogenic" "" "0000443289" "0" "90" "17" "15134299" "15134299" "subst" "0" "00006" "PMP22_000050" "g.15134299A>T" "" "{PMID:Takashima 2001:11545686}" "" "" "" "Germline" "" "" "0" "" "" "g.15230982A>T" "" "pathogenic" "" "0000443290" "0" "90" "17" "15134298" "15134298" "subst" "0" "00006" "PMP22_000051" "g.15134298C>T" "" "{PMID:Brožková 2011:22006697}" "" "" "" "Germline" "" "" "0" "" "" "g.15230981C>T" "" "pathogenic" "" "0000443291" "0" "90" "17" "15134288" "15134288" "dup" "0" "00006" "PMP22_000052" "g.15134288dup" "" "{PMID:Zephir 2005:15955700}" "" "433dupC" "" "Germline" "" "" "0" "" "" "g.15230971dup" "" "pathogenic" "" "0000443292" "0" "90" "17" "15134277" "15134277" "subst" "0" "00006" "PMP22_000053" "g.15134277A>C" "" "{PMID:Navon 1996:08655153}" "" "" "" "Germline" "" "" "0" "" "" "g.15230960A>C" "" "pathogenic" "" "0000443293" "0" "90" "17" "15134275" "15134276" "del" "0" "00006" "PMP22_000054" "g.15134275_15134276del" "" "{PMID:Taioli 2011:21252112}" "" "443_444delTC" "" "Germline" "" "" "0" "" "" "g.15230958_15230959del" "" "pathogenic" "" "0000443294" "0" "90" "17" "15134270" "15134270" "subst" "0" "00006" "PMP22_000055" "g.15134270G>T" "" "{PMID:Ohnishi 2000:10663978}" "" "" "" "Germline" "" "" "0" "" "" "g.15230953G>T" "" "pathogenic" "" "0000443295" "0" "90" "17" "15134269" "15134269" "subst" "0" "00006" "PMP22_000056" "g.15134269C>A" "" "{PMID:Ikegami 1998:09544841}" "" "" "" "Germline" "" "" "0" "" "" "g.15230952C>A" "" "pathogenic" "" "0000443296" "0" "90" "17" "15134268" "15134268" "subst" "0" "00006" "PMP22_000057" "g.15134268C>T" "" "{PMID:Ionasescu 1997:08995589}" "" "" "" "Germline" "" "" "0" "" "" "g.15230951C>T" "" "pathogenic" "" "0000443297" "0" "90" "17" "15134248" "15134248" "subst" "0" "00006" "PMP22_000058" "g.15134248G>C" "" "{PMID:Numakura 2000:10632107}" "" "" "" "Germline" "" "" "0" "" "" "g.15230931G>C" "" "pathogenic" "" "0000443298" "0" "90" "17" "15134248" "15134248" "subst" "4.06666E-6" "00006" "PMP22_000059" "g.15134248G>A" "" "{PMID:Parman 1999:10211478}" "" "" "" "Germline" "" "rs28936682" "0" "" "" "g.15230931G>A" "" "pathogenic" "" "0000443299" "0" "90" "17" "15134242" "15134242" "subst" "1.22027E-5" "00006" "PMP22_000060" "g.15134242G>A" "" "{PMID:Gess 2011:21337347}" "" "" "" "Germline" "" "" "0" "" "" "g.15230925G>A" "" "pathogenic" "" "0000443300" "0" "90" "17" "15163998" "15163998" "subst" "0" "00006" "PMP22_000061" "g.15163998A>G" "" "{PMID:Valentijn 1992:01303281}" "" "" "" "Germline" "" "" "0" "" "" "g.15260681A>G" "" "pathogenic" "" "0000443301" "0" "90" "17" "15163989" "15163989" "subst" "0" "00006" "PMP22_000062" "g.15163989A>G" "" "{PMID:Nelis 1999:09888385}" "" "" "" "Germline" "" "" "0" "" "" "g.15260672A>G" "" "pathogenic" "" "0000443302" "0" "90" "17" "15163980" "15163980" "subst" "0" "00006" "PMP22_000063" "g.15163980G>A" "" "{PMID:Kleopa 2004:15205993}" "" "" "" "Germline" "" "" "0" "" "" "g.15260663G>A" "" "pathogenic" "" "0000443303" "0" "90" "17" "15163977" "15163977" "subst" "0" "00006" "PMP22_000064" "g.15163977G>C" "" "{PMID:Joo 2004:15099592}" "" "" "" "Germline" "" "" "0" "" "" "g.15260660G>C" "" "pathogenic" "" "0000443304" "0" "90" "17" "15163968" "15163973" "del" "0" "00006" "PMP22_000065" "g.15163968_15163973del" "" "{PMID:Mersiyanova 2000:10737979}" "" "75_78+2delCAGCGT" "" "Germline" "" "" "0" "" "" "g.15260651_15260656del" "" "pathogenic" "" "0000443305" "0" "90" "17" "15162507" "15162507" "subst" "0" "00006" "PMP22_000066" "g.15162507A>G" "" "{PMID:Takashima 2001:11545686}" "" "" "" "Germline" "" "" "0" "" "" "g.15259190A>G" "" "pathogenic" "" "0000443306" "0" "90" "17" "15162501" "15162501" "subst" "2.84308E-5" "00006" "PMP22_000028" "g.15162501C>T" "" "{PMID:Sahenk 1998:09748013}" "" "" "" "Germline" "" "" "0" "" "" "g.15259184C>T" "" "pathogenic" "" "0000454990" "1" "90" "17" "15142892" "15142892" "subst" "0" "00006" "PMP22_000002" "g.15142892G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.15239575G>A" "" "pathogenic" "" "0000454991" "1" "90" "17" "15142831" "15142831" "del" "0" "00006" "PMP22_000029" "g.15142831del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "281delG" "" "Germline" "yes" "" "0" "" "" "g.15239514del" "" "pathogenic" "" "0000454992" "1" "90" "17" "15163962" "15163962" "subst" "0" "00006" "PMP22_000102" "g.15163962C>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.15260645C>G" "" "pathogenic" "" "0000454993" "1" "90" "17" "15163962" "15163962" "subst" "0" "00006" "PMP22_000102" "g.15163962C>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.15260645C>G" "" "pathogenic" "" "0000454994" "1" "90" "17" "15163962" "15163962" "subst" "0" "00006" "PMP22_000102" "g.15163962C>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15260645C>G" "" "pathogenic" "" "0000454995" "1" "90" "17" "15133094" "15168674" "del" "0" "00006" "PMP22_000100" "g.(?_15133094)_(15168674_?)del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "deletion entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)del" "" "pathogenic (dominant)" "" "0000454996" "1" "90" "17" "15133094" "15168674" "del" "0" "00006" "PMP22_000100" "g.(?_15133094)_(15168674_?)del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "deletion entire gene" "" "Germline" "yes" "" "0" "" "" "g.(?_15229777)_(15265357_?)del" "" "pathogenic (dominant)" "" "0000454997" "1" "90" "17" "15133094" "15168674" "del" "0" "00006" "PMP22_000100" "g.(?_15133094)_(15168674_?)del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "deletion entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)del" "" "pathogenic (dominant)" "" "0000454998" "1" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "duplication entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000454999" "1" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "duplication entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000455000" "1" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "duplication entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000455001" "1" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "duplication entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000455002" "1" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "duplication entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000455003" "1" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "duplication entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000455004" "1" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "duplication entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000455005" "1" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "duplication entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000455006" "1" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "duplication entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000455007" "1" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "duplication entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000455008" "1" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "duplication entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000455009" "1" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "duplication entire gene" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000472282" "0" "50" "17" "15164043" "15164043" "subst" "0" "03239" "PMP22_000103" "g.15164043A>G" "" "" "" "Met1Thr" "" "Germline" "" "" "0" "" "" "g.15260726A>G" "" "VUS" "" "0000472283" "0" "50" "17" "15164043" "15164043" "subst" "0" "03239" "PMP22_000103" "g.15164043A>G" "" "" "" "Met1Thr" "" "Germline" "" "" "0" "" "" "g.15260726A>G" "" "VUS" "" "0000472285" "0" "70" "17" "15163982" "15163987" "del" "0" "03239" "PMP22_000104" "g.15163982_15163987del" "" "" "" "59_64delTCGTCT" "" "Germline" "" "" "0" "" "" "g.15260665_15260670del" "" "likely pathogenic" "" "0000472286" "0" "70" "17" "15163982" "15163987" "del" "0" "03239" "PMP22_000104" "g.15163982_15163987del" "" "" "" "59_64delTCGTCT" "" "Germline" "" "" "0" "" "" "g.15260665_15260670del" "" "likely pathogenic" "" "0000497671" "10" "90" "17" "15134347" "15134347" "del" "0" "03347" "PMP22_000105" "g.15134347del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.15231030del" "" "pathogenic (dominant)" "" "0000560323" "0" "90" "17" "15134248" "15134248" "subst" "0" "02330" "PMP22_000058" "g.15134248G>C" "" "" "" "PMP22(NM_000304.4):c.469C>G (p.R157G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15230931G>C" "" "pathogenic" "" "0000560324" "0" "90" "17" "15134283" "15134283" "del" "4.06322E-6" "02330" "PMP22_000099" "g.15134283del" "" "" "" "PMP22(NM_001281456.2):c.434delT (p.L145Rfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15230966del" "" "pathogenic" "" "0000560325" "0" "10" "17" "15134314" "15134314" "subst" "0.000678575" "02330" "PMP22_000106" "g.15134314C>T" "" "" "" "PMP22(NM_001281456.2):c.403G>A (p.A135T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15230997C>T" "" "benign" "" "0000560326" "0" "50" "17" "15134364" "15134364" "subst" "0.00402708" "02330" "PMP22_000046" "g.15134364G>A" "" "" "" "PMP22(NM_001281456.2):c.353C>T (p.T118M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15231047G>A" "" "VUS" "" "0000560327" "0" "10" "17" "15142945" "15142945" "subst" "0.0059702" "02330" "PMP22_000107" "g.15142945C>T" "" "" "" "PMP22(NM_001281456.2):c.179-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15239628C>T" "" "benign" "" "0000560328" "0" "30" "17" "15151307" "15151307" "subst" "0" "02330" "PMP22_000108" "g.15151307G>A" "" "" "" "PMP22(NM_000304.4):c.179-8379C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15247990G>A" "" "likely benign" "" "0000560329" "0" "30" "17" "15151438" "15151438" "subst" "0" "02330" "PMP22_000109" "g.15151438G>A" "" "" "" "PMP22(NM_001281456.2):c.179-8510C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15248121G>A" "" "likely benign" "" "0000560330" "0" "70" "17" "15162437" "15162437" "dup" "0" "02330" "PMP22_000110" "g.15162437dup" "" "" "" "PMP22(NM_001281456.2):c.152dupA (p.H51Qfs*172)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15259120dup" "" "likely pathogenic" "" "0000560331" "0" "70" "17" "15163977" "15163977" "subst" "0" "02327" "PMP22_000064" "g.15163977G>C" "" "" "" "PMP22(NM_000304.4):c.68C>G (p.T23R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15260660G>C" "" "likely pathogenic" "" "0000595649" "0" "70" "17" "15142809" "15142809" "subst" "0" "01364" "PMP22_000111" "g.15142809C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000595650" "0" "70" "17" "15142871" "15142871" "subst" "0" "01364" "PMP22_000112" "g.15142871G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000616348" "0" "30" "17" "15134364" "15134364" "subst" "0.00402708" "02326" "PMP22_000046" "g.15134364G>A" "" "" "" "PMP22(NM_001281456.2):c.353C>T (p.T118M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15231047G>A" "" "likely benign" "" "0000616349" "0" "70" "17" "15142879" "15142879" "subst" "0" "01943" "PMP22_000113" "g.15142879G>T" "" "" "" "PMP22(NM_001281456.1):c.228C>A (p.S76R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15239562G>T" "" "likely pathogenic" "" "0000649491" "1" "30" "17" "15133114" "15133114" "subst" "0" "03575" "PMP22_000114" "g.15133114A>G" "109/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "109 heterozygous; {DB:CLININrs11654383}" "Germline" "" "rs11654383" "0" "" "" "g.15229797A>G" "" "likely benign" "" "0000649492" "1" "30" "17" "15133123" "15133123" "subst" "0" "03575" "PMP22_000115" "g.15133123C>A" "116/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "116 heterozygous; {DB:CLININrs7415}" "Germline" "" "rs7415" "0" "" "" "g.15229806C>A" "" "likely benign" "" "0000649493" "1" "50" "17" "15134364" "15134364" "subst" "0.00402708" "03575" "PMP22_000046" "g.15134364G>A" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 19 heterozygous, no homozygous; {DB:CLININrs104894619}" "Germline" "" "rs104894619" "0" "" "" "g.15231047G>A" "" "VUS" "" "0000658037" "0" "10" "17" "15162389" "15162389" "subst" "0.539367" "02330" "PMP22_000071" "g.15162389T>C" "" "" "" "PMP22(NM_000304.2):c.178+22A>G, PMP22(NM_000304.4):c.178+22A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15259072T>C" "" "benign" "" "0000660280" "0" "30" "17" "15134401" "15134401" "subst" "0.000322641" "01164" "PMP22_000116" "g.15134401G>A" "" "" "" "" "ACMG grading: BP4,BP6" "Germline" "" "rs377467465" "0" "" "" "g.15231084G>A" "" "likely benign" "ACMG" "0000660683" "0" "90" "17" "15134390" "15134390" "subst" "0" "01164" "PMP22_000041" "g.15134390G>T" "" "" "" "" "Abe et al. 2004. Neuromuscul Disord 14(5): 313" "Germline" "" "rs863225028" "0" "" "" "g.15231073G>T" "" "pathogenic" "" "0000663641" "0" "90" "17" "15134364" "15134364" "subst" "0.00402708" "00006" "PMP22_000046" "g.15134364G>A" "" "{PMID:Antoniadi 2015:26392352}, {PMID:Forrester 2020:31985473}" "" "" "" "Germline" "" "" "0" "" "" "g.15231047G>A" "" "pathogenic (dominant)" "" "0000664031" "0" "90" "17" "15142831" "15142831" "del" "0" "00006" "PMP22_000029" "g.15142831del" "" "{PMID:Antoniadi 2015:26392352}" "" "c.281delG" "" "De novo" "" "" "0" "" "" "g.15239514del" "" "pathogenic (dominant)" "" "0000664033" "0" "90" "17" "15133094" "15168674" "del" "0" "00006" "PMP22_000100" "g.(?_15133094)_(15168674_?)del" "" "{PMID:Antoniadi 2015:26392352}" "" "c.(?_-1)_(*1_?)del" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)del" "" "pathogenic (dominant)" "" "0000664034" "0" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "" "{PMID:Antoniadi 2015:26392352}" "" "c.(?_-1)_(*1_?)dup" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000664096" "0" "70" "17" "15142907" "15142907" "subst" "0" "00006" "PMP22_000070" "g.15142907G>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.15239590G>T" "" "likely pathogenic" "" "0000664097" "0" "70" "17" "15134269" "15134269" "subst" "0" "00006" "PMP22_000119" "g.15134269C>G" "" "{PMID:Antoniadi 2015:26392352}" "" "" "asymptomatic parent somatic mosaic" "Germline" "" "" "0" "" "" "g.15230952C>G" "" "likely pathogenic" "" "0000664125" "0" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "" "{PMID:Antoniadi 2015:26392352}" "" "c.(?_-1)_(*1_?)dup" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000664162" "0" "90" "17" "15134364" "15134364" "subst" "0.00402708" "00006" "PMP22_000046" "g.15134364G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "reduced penetrance" "Germline" "" "rs104894619" "0" "" "" "g.15231047G>A" "" "pathogenic (!)" "" "0000664165" "0" "90" "17" "15134364" "15134364" "subst" "0.00402708" "00006" "PMP22_000046" "g.15134364G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "reduced penetrance" "Germline" "" "rs104894619" "0" "" "" "g.15231047G>A" "" "pathogenic (!)" "" "0000664179" "0" "90" "17" "15134364" "15134364" "subst" "0.00402708" "00006" "PMP22_000046" "g.15134364G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "reduced penetrance" "Germline" "" "rs104894619" "0" "" "" "g.15231047G>A" "" "pathogenic (!)" "" "0000664180" "0" "90" "17" "15134364" "15134364" "subst" "0.00402708" "00006" "PMP22_000046" "g.15134364G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "reduced penetrance" "Germline" "" "rs104894619" "0" "" "" "g.15231047G>A" "" "pathogenic (!)" "" "0000664182" "0" "70" "17" "15142922" "15142922" "subst" "2.84599E-5" "00006" "PMP22_000088" "g.15142922A>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.15239605A>C" "" "likely pathogenic" "" "0000664188" "0" "90" "17" "15134364" "15134364" "subst" "0.00402708" "00006" "PMP22_000046" "g.15134364G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "reduced penetrance" "Germline" "" "rs104894619" "0" "" "" "g.15231047G>A" "" "pathogenic (!)" "" "0000669381" "3" "30" "17" "15133114" "15133114" "subst" "0" "03575" "PMP22_000114" "g.15133114A>G" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs11654383}" "Germline" "" "rs11654383" "0" "" "" "g.15229797A>G" "" "likely benign" "" "0000669382" "3" "30" "17" "15133123" "15133123" "subst" "0" "03575" "PMP22_000115" "g.15133123C>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs7415}" "Germline" "" "rs7415" "0" "" "" "g.15229806C>A" "" "likely benign" "" "0000670384" "0" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "" "{PMID:Xie 2019:30764848}" "" "duplication ex1-5" "" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic (dominant)" "" "0000680782" "0" "30" "17" "15134364" "15134364" "subst" "0.00402708" "02327" "PMP22_000046" "g.15134364G>A" "" "" "" "PMP22(NM_001281456.2):c.353C>T (p.T118M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680783" "0" "30" "17" "15162404" "15162404" "subst" "0.00096372" "02326" "PMP22_000072" "g.15162404G>T" "" "" "" "PMP22(NM_001281456.2):c.178+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680784" "0" "10" "17" "15162516" "15162516" "subst" "0.00131238" "02330" "PMP22_000094" "g.15162516G>A" "" "" "" "PMP22(NM_000304.2):c.79-6C>T, PMP22(NM_000304.4):c.79-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692259" "0" "50" "17" "15134239" "15134239" "subst" "0" "02330" "PMP22_000120" "g.15134239C>T" "" "" "" "PMP22(NM_000304.4):c.478G>A (p.E160K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693856" "0" "90" "17" "15133094" "15168674" "del" "0" "03752" "PMP22_000100" "g.(?_15133094)_(15168674_?)del" "" "{PMID:Cerino 2020:32934002}" "" "" "1.5 Mb deletion gene" "Germline" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)del" "" "pathogenic (dominant)" "ACMG" "0000787163" "0" "50" "17" "15142868" "15142868" "subst" "0" "00006" "PMP22_000028" "g.15142868A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.15239551A>G" "" "VUS" "" "0000847472" "0" "90" "17" "0" "0" "del" "0" "00000" "PMP22_000123" "g.?" "" "" "" "duplication of 1.5 Mb" "no second gene variant" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000847474" "0" "90" "17" "0" "0" "del" "0" "00000" "PMP22_000123" "g.?" "" "" "" "duplication of 1.5 Mb" "no second gene variant" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000847476" "0" "90" "17" "0" "0" "del" "0" "00000" "PMP22_000123" "g.?" "" "" "" "duplication of 1.5 Mb" "no second gene variant" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000847478" "0" "90" "17" "0" "0" "del" "0" "00000" "PMP22_000123" "g.?" "" "" "" "deletion of 1.4 Mb" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000847480" "0" "70" "17" "15134283" "15134283" "del" "4.06322E-6" "00000" "PMP22_000099" "g.15134283del" "" "" "" "c.434delT" "" "Germline" "yes" "rs863225029" "0" "" "" "" "" "likely pathogenic" "" "0000873463" "0" "70" "17" "15142787" "15142787" "subst" "0" "00000" "PMP22_000124" "g.15142787C>A" "117" "{PMID:Sun 2018:30076350}" "" "PMP22(NM_153322.1):c.319+1G>T; MYH14(NM_001145809.1):c.3040G>C(p.E1014Q)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.15239470C>A" "" "likely pathogenic" "" "0000873486" "0" "70" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "132" "{PMID:Sun 2018:30076350}" "" "ARHGEF10 (NM_014629.2):c.824G>A(p.R275H); PMP22(NM_153322.1):whole gene duplication" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000873603" "0" "70" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "213" "{PMID:Sun 2018:30076350}" "" "PMP22(NM_153322.1):Whole gene duplication" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000873606" "0" "70" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "216" "{PMID:Sun 2018:30076350}" "" "PMP22(NM_153322.1):Whole gene duplication" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000873611" "0" "70" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "219" "{PMID:Sun 2018:30076350}" "" "PMP22(NM_153322.1):Whole gene duplication" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000873653" "0" "70" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "249" "{PMID:Sun 2018:30076350}" "" "PMP22(NM_000304.2):CDS2-4 duplication" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000893350" "0" "50" "17" "15162464" "15162464" "subst" "0" "02330" "PMP22_000125" "g.15162464C>T" "" "" "" "PMP22(NM_000304.4):c.125G>A (p.C42Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893351" "0" "30" "17" "15162516" "15162516" "subst" "0.00131238" "02327" "PMP22_000094" "g.15162516G>A" "" "" "" "PMP22(NM_000304.2):c.79-6C>T, PMP22(NM_000304.4):c.79-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893352" "0" "30" "17" "15164083" "15164083" "subst" "0.000300022" "02326" "PMP22_000126" "g.15164083G>A" "" "" "" "PMP22(NM_000304.2):c.-34-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950799" "0" "10" "17" "15134175" "15134175" "subst" "0.527136" "02326" "PMP22_000080" "g.15134175T>G" "" "" "" "PMP22(NM_000304.2):c.*59A>C, PMP22(NM_000304.4):c.*59A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950800" "0" "10" "17" "15143011" "15143011" "subst" "0" "02326" "PMP22_000127" "g.15143011A>G" "" "" "" "PMP22(NM_000304.2):c.179-83T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950801" "0" "10" "17" "15162389" "15162389" "subst" "0.539367" "02326" "PMP22_000071" "g.15162389T>C" "" "" "" "PMP22(NM_000304.2):c.178+22A>G, PMP22(NM_000304.4):c.178+22A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950802" "0" "30" "17" "15162437" "15162437" "subst" "0.000186825" "02327" "PMP22_000128" "g.15162437T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968678" "0" "30" "17" "15134351" "15134351" "subst" "2.84588E-5" "02330" "PMP22_000129" "g.15134351C>T" "" "" "" "PMP22(NM_000304.4):c.366G>A (p.P122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982315" "0" "30" "17" "15134240" "15134240" "subst" "6.10208E-5" "02326" "PMP22_000130" "g.15134240G>A" "" "" "" "PMP22(NM_000304.2):c.477C>T (p.R159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982316" "0" "30" "17" "15134401" "15134401" "subst" "0.000322641" "02330" "PMP22_000116" "g.15134401G>A" "" "" "" "PMP22(NM_000304.4):c.320-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015472" "0" "10" "17" "15134321" "15134321" "subst" "0.00175946" "02330" "PMP22_000077" "g.15134321G>A" "" "" "" "PMP22(NM_000304.4):c.396C>T (p.Y132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001021150" "0" "90" "17" "15133094" "15168674" "dup" "0" "00006" "PMP22_000101" "g.(?_15133094)_(15168674_?)dup" "" "{PMID:Barp 2024:39638552}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_15229777)_(15265357_?)dup" "" "pathogenic" "" "0001048649" "11" "90" "17" "15145737" "15145737" "subst" "0" "04175" "PMP22_000131" "g.15145737T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.15242420T>C" "" "likely pathogenic (dominant)" "ACMG" ## 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 PMP22 ## Count = 231 "{{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}}" "0000000668" "00025424" "50" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Met)" "" "0000063694" "00025424" "10" "319" "34" "319" "34" "c.319+34G>A" "r.(=)" "p.(=)" "" "0000063695" "00025424" "90" "320" "-2" "320" "-2" "c.320-2A>G" "r.(=)" "p.(=)" "" "0000063696" "00025424" "50" "260" "0" "260" "0" "c.260T>C" "r.(=)" "p.(Leu87Pro)" "" "0000063697" "00025424" "10" "178" "22" "178" "22" "c.178+22A>G" "r.(=)" "p.(=)" "" "0000063698" "00025424" "50" "178" "7" "178" "7" "c.178+7C>A" "r.(=)" "p.(=)" "" "0000063699" "00025424" "10" "396" "0" "396" "0" "c.396C>T" "r.(=)" "p.(=)" "" "0000063700" "00025424" "90" "78" "1" "78" "1" "c.78+1G>T" "r.(=)" "p.(=)" "" "0000063701" "00025424" "90" "200" "0" "200" "0" "c.200C>A" "r.(=)" "p.(Ala67Asp)" "" "0000063702" "00025424" "50" "-34" "-24" "-34" "-24" "c.-34-24T>C" "r.(=)" "p.(=)" "" "0000063703" "00025424" "50" "1142" "0" "1151" "0" "c.*659_*668del" "r.(=)" "p.(=)" "" "0000063704" "00025424" "90" "433" "0" "433" "0" "c.433del" "r.(=)" "p.(Leu145Trpfs*10)" "" "0000063705" "00025424" "50" "79" "-23" "79" "-23" "c.79-23G>A" "r.(=)" "p.(=)" "" "0000063706" "00025424" "50" "236" "0" "236" "0" "c.236C>T" "r.(=)" "p.(Ser79Phe)" "" "0000244121" "00025424" "70" "76" "0" "78" "2" "c.76_78+2delinsC" "r.spl" "p.?" "2_2i" "0000247456" "00025424" "10" "499" "0" "499" "0" "c.*16T>A" "r.(=)" "p.(=)" "" "0000247471" "00025424" "90" "325" "0" "325" "0" "c.325T>C" "r.(?)" "p.(Cys109Arg)" "" "0000247472" "00025424" "90" "314" "0" "314" "0" "c.314T>G" "r.(?)" "p.(Leu105Arg)" "" "0000247473" "00025424" "90" "440" "0" "440" "0" "c.440T>G" "r.(?)" "p.(Leu147Arg)" "" "0000247474" "00025424" "90" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.(Leu16Pro)" "" "0000247475" "00025424" "90" "56" "0" "56" "0" "c.56T>C" "r.(?)" "p.(Leu19Pro)" "" "0000247476" "00025424" "90" "212" "0" "212" "0" "c.212T>C" "r.(?)" "p.(Leu71Pro)" "" "0000247477" "00025424" "90" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Leu80Pro)" "" "0000247478" "00025424" "90" "206" "0" "206" "0" "c.206T>A" "r.(?)" "p.(Met69Lys)" "" "0000247479" "00025424" "90" "214" "0" "214" "0" "c.214T>C" "r.(?)" "p.(Ser72Pro)" "" "0000247480" "00025424" "90" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(Ser79Pro)" "" "0000247481" "00025424" "90" "82" "0" "82" "0" "c.82T>C" "r.(?)" "p.(Trp28Arg)" "" "0000247484" "00025424" "50" "185" "0" "185" "0" "c.185T>G" "r.(?)" "p.(Leu62Arg)" "" "0000293980" "00025424" "10" "-134" "0" "-134" "0" "c.-134G>A" "r.(?)" "p.(=)" "" "0000293981" "00025424" "10" "-141" "0" "-141" "0" "c.-141C>G" "r.(?)" "p.(=)" "" "0000293982" "00025424" "10" "-40" "0" "-40" "0" "c.-40G>A" "r.(?)" "p.(=)" "" "0000293983" "00025424" "10" "542" "0" "542" "0" "c.*59A>C" "r.(=)" "p.(=)" "" "0000293984" "00025424" "90" "110" "0" "110" "0" "c.110A>T" "r.(?)" "p.(Asp37Val)" "" "0000293985" "00025424" "90" "178" "1" "178" "1" "c.178+1G>C" "r.spl?" "p.?" "" "0000293986" "00025424" "90" "179" "-1" "179" "-1" "c.179-1G>C" "r.spl?" "p.?" "" "0000293987" "00025424" "90" "179" "-2" "179" "-2" "c.179-2A>G" "r.spl?" "p.?" "" "0000293988" "00025424" "90" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Trp61Ter)" "" "0000293989" "00025424" "90" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Val65Phe)" "" "0000293990" "00025424" "90" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Ala67Thr)" "" "0000293991" "00025424" "90" "199" "0" "199" "0" "c.199G>C" "r.(?)" "p.(Ala67Pro)" "" "0000293992" "00025424" "90" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Ser72Trp)" "" "0000293993" "00025424" "90" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ser72Leu)" "" "0000293994" "00025424" "90" "227" "0" "227" "0" "c.227G>T" "r.(?)" "p.(Ser76Ile)" "" "0000293995" "00025424" "90" "236" "0" "236" "0" "c.236C>G" "r.(?)" "p.(Ser79Cys)" "" "0000293996" "00025424" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Gln86Ter)" "" "0000293997" "00025424" "90" "277" "0" "277" "0" "c.277G>C" "r.(?)" "p.(Gly93Arg)" "" "0000293998" "00025424" "90" "281" "0" "281" "0" "c.281dup" "r.(?)" "p.(Arg95GlnfsTer128)" "" "0000293999" "00025424" "90" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Arg)" "" "0000294000" "00025424" "90" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Gly100Glu)" "" "0000294001" "00025424" "90" "319" "1" "319" "1" "c.319+1G>A" "r.spl?" "p.?" "" "0000294002" "00025424" "90" "320" "0" "320" "0" "c.320G>T" "r.(?)" "p.(Gly107Val)" "" "0000294003" "00025424" "90" "327" "0" "327" "0" "c.327C>A" "r.(?)" "p.(Cys109Ter)" "" "0000294004" "00025424" "10" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(Cys109=)" "" "0000294005" "00025424" "90" "36" "0" "36" "0" "c.36C>A" "r.(?)" "p.(His12Gln)" "" "0000294006" "00025424" "90" "372" "0" "372" "0" "c.372G>A" "r.(?)" "p.(Trp124Ter)" "" "0000294007" "00025424" "10" "409" "0" "409" "0" "c.409A>G" "r.(?)" "p.(Ile137Val)" "" "0000294008" "00025424" "90" "433" "0" "433" "0" "c.433dup" "r.(?)" "p.(Leu145ProfsTer78)" "" "0000294009" "00025424" "90" "447" "0" "447" "0" "c.447C>A" "r.(?)" "p.(Ser149Arg)" "" "0000294010" "00025424" "90" "448" "0" "448" "0" "c.448G>T" "r.(?)" "p.(Gly150Cys)" "" "0000294011" "00025424" "90" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Gly150Asp)" "" "0000294012" "00025424" "10" "468" "0" "468" "0" "c.468G>A" "r.(?)" "p.(Leu156=)" "" "0000294013" "00025424" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Trp)" "" "0000294014" "00025424" "90" "65" "0" "65" "0" "c.65C>T" "r.(?)" "p.(Ser22Phe)" "" "0000294015" "00025424" "90" "68" "0" "68" "0" "c.68C>G" "r.(?)" "p.(Thr23Arg)" "" "0000294016" "00025424" "90" "78" "1" "78" "1" "c.78+1G>T" "r.spl?" "p.?" "" "0000294017" "00025424" "10" "87" "0" "87" "0" "c.87C>T" "r.(?)" "p.(Ile29=)" "" "0000294018" "00025424" "90" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "0000297147" "00025424" "10" "542" "0" "542" "0" "c.*59A>C" "r.(=)" "p.(=)" "" "0000301058" "00025424" "90" "179" "-1" "179" "-1" "c.179-1G>A" "r.spl?" "p.?" "" "0000301059" "00025424" "10" "79" "-6" "79" "-6" "c.79-6C>T" "r.(=)" "p.(=)" "" "0000343514" "00025424" "90" "281" "0" "281" "0" "c.281dup" "r.(?)" "p.(Arg95GlnfsTer128)" "" "0000438538" "00025424" "90" "434" "0" "434" "0" "c.434del" "r.(?)" "p.(Leu145Argfs*10)" "" "0000439032" "00025424" "50" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.Thr118Met" "" "0000442483" "00025424" "50" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.Thr118Met" "" "0000443240" "00025424" "90" "325" "0" "325" "0" "c.325T>C" "r.(?)" "p.(Cys109Arg)" "5" "0000443241" "00025424" "90" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ser72Leu)" "4" "0000443242" "00025424" "90" "110" "0" "110" "0" "c.110A>T" "r.(?)" "p.(Asp37Val)" "3" "0000443243" "00025424" "90" "11" "0" "11" "0" "c.11del" "r.(?)" "p.(Leu4Argfs*3)" "2i" "0000443244" "00025424" "90" "130" "0" "131" "0" "c.130_131del" "r.(?)" "p.(Thr44Leufs*178)" "2" "0000443245" "00025424" "90" "174" "0" "178" "7" "c.174_178+7del" "r.spl" "p.?" "3_3i" "0000443246" "00025424" "90" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Trp61*)" "4" "0000443247" "00025424" "90" "19" "0" "20" "0" "c.19_20del" "r.(?)" "p.(Ser7Tyrfs*30)" "2" "0000443248" "00025424" "90" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Val65Phe)" "4" "0000443249" "00025424" "90" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Ala67Thr)" "4" "0000443250" "00025424" "90" "199" "0" "199" "0" "c.199G>C" "r.(?)" "p.(Ala67Pro)" "4" "0000443251" "00025424" "90" "206" "0" "206" "0" "c.206T>A" "r.(?)" "p.(Met69Lys)" "4" "0000443252" "00025424" "90" "206" "0" "206" "0" "c.206T>G" "r.(?)" "p.(Met69Arg)" "4" "0000443253" "00025424" "90" "212" "0" "212" "0" "c.212T>C" "r.(?)" "p.(Leu71Pro)" "4" "0000443254" "00025424" "90" "214" "0" "214" "0" "c.214T>C" "r.(?)" "p.(Ser72Pro)" "4" "0000443255" "00025424" "90" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Ser72Trp)" "4" "0000443256" "00025424" "90" "227" "0" "227" "0" "c.227del" "r.(?)" "p.(Ser76Thrfs*35)" "4" "0000443257" "00025424" "90" "227" "0" "227" "0" "c.227G>T" "r.(?)" "p.(Ser76Ile)" "4" "0000443258" "00025424" "90" "233" "0" "233" "0" "c.233T>C" "r.(?)" "p.(Leu78Pro)" "4" "0000443259" "00025424" "90" "235" "0" "235" "0" "c.235T>A" "r.(?)" "p.(Ser79Thr)" "4" "0000443260" "00025424" "90" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(Ser79Pro)" "4" "0000443261" "00025424" "90" "236" "0" "236" "0" "c.236C>G" "r.(?)" "p.(Ser79Cys)" "4" "0000443262" "00025424" "90" "238" "0" "239" "0" "c.238_239del" "r.(?)" "p.(Leu80Valfs*142)" "4" "0000443263" "00025424" "90" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Leu80Pro)" "4" "0000443264" "00025424" "90" "239" "0" "239" "0" "c.239T>G" "r.(?)" "p.(Leu80Arg)" "4" "0000443265" "00025424" "90" "251" "0" "253" "0" "c.251_253del" "r.(?)" "p.(Phe84del)" "4" "0000443266" "00025424" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Gln86*)" "4" "0000443267" "00025424" "90" "277" "0" "277" "0" "c.277G>C" "r.(?)" "p.(Gly93Arg)" "4" "0000443268" "00025424" "90" "281" "0" "281" "0" "c.281del" "r.(?)" "p.(Gly94Alafs*17)" "4" "0000443269" "00025424" "90" "281" "0" "281" "0" "c.281dup" "r.(?)" "p.(Arg95Glnfs*128)" "4" "0000443270" "00025424" "90" "297" "0" "297" "0" "c.297del" "r.(?)" "p.(Gly100Glufs*11)" "4" "0000443271" "00025424" "90" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Arg)" "4" "0000443272" "00025424" "90" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Gly100Glu)" "4" "0000443273" "00025424" "90" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Gln103*)" "4" "0000443274" "00025424" "90" "31" "0" "39" "0" "c.31_39del" "r.(?)" "p.(Leu11_Val13del)" "2" "0000443275" "00025424" "90" "312" "0" "312" "0" "c.312del" "r.(?)" "p.(Ala106Leufs*5)" "4" "0000443276" "00025424" "90" "314" "0" "314" "0" "c.314T>G" "r.(?)" "p.(Leu105Arg)" "4" "0000443277" "00025424" "90" "318" "0" "318" "0" "c.318del" "r.(?)" "p.(Gly107Valfs*4)" "2" "0000443278" "00025424" "90" "320" "0" "320" "0" "c.320G>T" "r.(?)" "p.(Gly107Val)" "5" "0000443279" "00025424" "90" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Leu108Pro)" "5" "0000443280" "00025424" "90" "327" "0" "327" "0" "c.327C>A" "r.(?)" "p.(Cys109*)" "5" "0000443281" "00025424" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Met111Thr)" "5" "0000443282" "00025424" "90" "336" "0" "336" "0" "c.336T>G" "r.(?)" "p.(Ser112Arg)" "5" "0000443283" "00025424" "90" "344" "0" "355" "0" "c.344_355del" "r.(?)" "p.(Ala115_Thr118del)" "5" "0000443284" "00025424" "90" "346" "0" "347" "0" "c.346_347insCC" "r.(?)" "p.(Ile116Thrfs*5)" "5" "0000443285" "00025424" "90" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Met)" "5" "0000443286" "00025424" "90" "364" "0" "365" "0" "c.364_365del" "r.(?)" "p.(Pro122Glyfs*100)" "5" "0000443287" "00025424" "90" "36" "0" "36" "0" "c.36C>A" "r.(?)" "p.(His12Gln)" "2" "0000443288" "00025424" "90" "392" "0" "392" "0" "c.392C>G" "r.(?)" "p.(Ser131Cys)" "5" "0000443289" "00025424" "90" "418" "0" "418" "0" "c.418T>A" "r.(?)" "p.(Trp140Arg)" "5" "0000443290" "00025424" "90" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Trp140*)" "5" "0000443291" "00025424" "90" "433" "0" "433" "0" "c.433dup" "r.(?)" "p.(Leu145Profs*78)" "2" "0000443292" "00025424" "90" "440" "0" "440" "0" "c.440T>G" "r.(?)" "p.(Leu147Arg)" "5" "0000443293" "00025424" "90" "443" "0" "444" "0" "c.443_444del" "r.(?)" "p.(Leu148Glnfs*74)" "5" "0000443294" "00025424" "90" "447" "0" "447" "0" "c.447C>A" "r.(?)" "p.(Ser149Arg)" "5" "0000443295" "00025424" "90" "448" "0" "448" "0" "c.448G>T" "r.(?)" "p.(Gly150Cys)" "5" "0000443296" "00025424" "90" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Gly150Asp)" "5" "0000443297" "00025424" "90" "469" "0" "469" "0" "c.469C>G" "r.(?)" "p.(Arg157Gly)" "5" "0000443298" "00025424" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Trp)" "5" "0000443299" "00025424" "90" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159Cys)" "5" "0000443300" "00025424" "90" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.(Leu16Pro)" "2" "0000443301" "00025424" "90" "56" "0" "56" "0" "c.56T>C" "r.(?)" "p.(Leu19Pro)" "2" "0000443302" "00025424" "90" "65" "0" "65" "0" "c.65C>T" "r.(?)" "p.(Ser22Phe)" "2" "0000443303" "00025424" "90" "68" "0" "68" "0" "c.68C>G" "r.(?)" "p.(Thr23Arg)" "2" "0000443304" "00025424" "90" "75" "0" "78" "2" "c.75_78+2del" "r.spl" "p.?" "2_2i" "0000443305" "00025424" "90" "82" "0" "82" "0" "c.82T>C" "r.(?)" "p.(Trp28Arg)" "3" "0000443306" "00025424" "90" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "3" "0000454990" "00025424" "90" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ser72Leu)" "" "0000454991" "00025424" "90" "281" "0" "281" "0" "c.281del" "r.(?)" "p.(Gly94Alafs*17)" "" "0000454992" "00025424" "90" "78" "5" "78" "5" "c.78+5G>C" "r.spl" "p.?" "" "0000454993" "00025424" "90" "78" "5" "78" "5" "c.78+5G>C" "r.spl" "p.?" "" "0000454994" "00025424" "90" "78" "5" "78" "5" "c.78+5G>C" "r.spl" "p.?" "" "0000454995" "00025424" "90" "0" "0" "0" "0" "c.-238_*1140{0}" "r.0" "p.0" "_1_5_" "0000454996" "00025424" "90" "0" "0" "0" "0" "c.-238_*1140{0}" "r.0" "p.0" "_1_5_" "0000454997" "00025424" "90" "0" "0" "0" "0" "c.-238_*1140{0}" "r.0" "p.0" "_1_5_" "0000454998" "00025424" "90" "-1" "0" "1620" "0" "c.-238_*1140{2}" "r.=" "p.=" "_1_5_" "0000454999" "00025424" "90" "-1" "0" "1620" "0" "c.-238_*1140{2}" "r.=" "p.=" "_1_5_" "0000455000" "00025424" "90" "-1" "0" "1620" "0" "c.-238_*1140{2}" "r.=" "p.=" "_1_5_" "0000455001" "00025424" "90" "-1" "0" "1620" "0" "c.-238_*1140{2}" "r.=" "p.=" "_1_5_" "0000455002" "00025424" "90" "-1" "0" "1620" "0" "c.-238_*1140{2}" "r.=" "p.=" "_1_5_" "0000455003" "00025424" "90" "-1" "0" "1620" "0" "c.-238_*1140{2}" "r.=" "p.=" "_1_5_" "0000455004" "00025424" "90" "-1" "0" "1620" "0" "c.-238_*1140{2}" "r.=" "p.=" "_1_5_" "0000455005" "00025424" "90" "-1" "0" "1620" "0" "c.-238_*1140{2}" "r.=" "p.=" "_1_5_" "0000455006" "00025424" "90" "-1" "0" "1620" "0" "c.-238_*1140{2}" "r.=" "p.=" "_1_5_" "0000455007" "00025424" "90" "-1" "0" "1620" "0" "c.-238_*1140{2}" "r.=" "p.=" "_1_5_" "0000455008" "00025424" "90" "-1" "0" "1620" "0" "c.-238_*1140{2}" "r.=" "p.=" "_1_5_" "0000455009" "00025424" "90" "-1" "0" "1620" "0" "c.-238_*1140{2}" "r.=" "p.=" "_1_5_" "0000472282" "00025424" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "2" "0000472283" "00025424" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "2" "0000472285" "00025424" "70" "59" "0" "64" "0" "c.59_64del" "r.(?)" "p.(Phe20_Val21del)" "2" "0000472286" "00025424" "70" "59" "0" "64" "0" "c.59_64del" "r.(?)" "p.(Phe20_Val21del)" "2" "0000497671" "00025424" "90" "370" "0" "370" "0" "c.370del" "r.(?)" "p.(Trp124Glyfs*31)" "5" "0000560323" "00025424" "90" "469" "0" "469" "0" "c.469C>G" "r.(?)" "p.(Arg157Gly)" "" "0000560324" "00025424" "90" "434" "0" "434" "0" "c.434del" "r.(?)" "p.(Leu145ArgfsTer10)" "" "0000560325" "00025424" "10" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Ala135Thr)" "" "0000560326" "00025424" "50" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Met)" "" "0000560327" "00025424" "10" "179" "-17" "179" "-17" "c.179-17G>A" "r.(=)" "p.(=)" "" "0000560328" "00025424" "30" "179" "-8379" "179" "-8379" "c.179-8379C>T" "r.(=)" "p.(=)" "" "0000560329" "00025424" "30" "179" "-8510" "179" "-8510" "c.179-8510C>T" "r.(=)" "p.(=)" "" "0000560330" "00025424" "70" "152" "0" "152" "0" "c.152dup" "r.(?)" "p.(His51GlnfsTer172)" "" "0000560331" "00025424" "70" "68" "0" "68" "0" "c.68C>G" "r.(?)" "p.(Thr23Arg)" "" "0000595649" "00025424" "70" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Arg)" "" "0000595650" "00025424" "70" "236" "0" "236" "0" "c.236C>T" "r.(?)" "p.(Ser79Phe)" "" "0000616348" "00025424" "30" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Met)" "" "0000616349" "00025424" "70" "228" "0" "228" "0" "c.228C>A" "r.(?)" "p.(Ser76Arg)" "" "0000649491" "00025424" "30" "1603" "0" "1603" "0" "c.*1120T>C" "r.(=)" "p.(=)" "" "0000649492" "00025424" "30" "1594" "0" "1594" "0" "c.*1111G>T" "r.(=)" "p.(=)" "" "0000649493" "00025424" "50" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Met)" "" "0000658037" "00025424" "10" "178" "22" "178" "22" "c.178+22A>G" "r.(=)" "p.(=)" "" "0000660280" "00025424" "30" "320" "-4" "320" "-4" "c.320-4C>T" "r.(?)" "p.(?)" "" "0000660683" "00025424" "90" "327" "0" "327" "0" "c.327C>A" "r.(?)" "p.(Cys109*)" "" "0000663641" "00025424" "90" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Met)" "" "0000664031" "00025424" "90" "281" "0" "281" "0" "c.281del" "r.(?)" "p.(Gly94Alafs*17)" "" "0000664033" "00025424" "90" "0" "0" "0" "0" "c.-238_*1140{0}" "r.0" "p.0" "_1_5_" "0000664034" "00025424" "90" "" "0" "" "0" "c.-238_*1140{2}" "r.?" "p.?" "_1_5_" "0000664096" "00025424" "70" "200" "0" "200" "0" "c.200C>A" "r.(?)" "p.(Ala67Asp)" "" "0000664097" "00025424" "70" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Gly150Arg)" "" "0000664125" "00025424" "90" "" "0" "" "0" "c.-238_*1140{2}" "r.?" "p.?" "_1_5_" "0000664162" "00025424" "90" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Met)" "" "0000664165" "00025424" "90" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Met)" "" "0000664179" "00025424" "90" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Met)" "" "0000664180" "00025424" "90" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Met)" "" "0000664182" "00025424" "70" "185" "0" "185" "0" "c.185T>G" "r.(?)" "p.(Leu62Arg)" "" "0000664188" "00025424" "90" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Met)" "" "0000669381" "00025424" "30" "1603" "0" "1603" "0" "c.*1120T>C" "r.(=)" "p.(=)" "" "0000669382" "00025424" "30" "1594" "0" "1594" "0" "c.*1111G>T" "r.(=)" "p.(=)" "" "0000670384" "00025424" "90" "0" "0" "0" "0" "c.-238_*1140{2}" "r.?" "p.?" "_1_5_" "0000680782" "00025424" "30" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Met)" "" "0000680783" "00025424" "30" "178" "7" "178" "7" "c.178+7C>A" "r.(=)" "p.(=)" "" "0000680784" "00025424" "10" "79" "-6" "79" "-6" "c.79-6C>T" "r.(=)" "p.(=)" "" "0000692259" "00025424" "50" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Glu160Lys)" "" "0000693856" "00025424" "90" "0" "0" "0" "0" "c.-238_*1140{0}" "r.0" "p.0" "_1_5_" "0000787163" "00025424" "50" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Leu80Pro)" "4" "0000847472" "00025424" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000847474" "00025424" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000847476" "00025424" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000847478" "00025424" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000847480" "00025424" "70" "434" "0" "434" "0" "c.434del" "r.(?)" "p.(Leu145Argfs*10)" "5" "0000873463" "00025424" "70" "319" "1" "319" "1" "c.319+1G>T" "r.(?)" "p.(?)" "" "0000873486" "00025424" "70" "-238" "0" "1623" "0" "c.(?_-238)_(*1140_?)dup" "r.(?)" "p.(?)" "" "0000873603" "00025424" "70" "-238" "0" "1623" "0" "c.(?_-238)_(*1140_?)dup" "r.(?)" "p.(?)" "" "0000873606" "00025424" "70" "-238" "0" "1623" "0" "c.(?_-238)_(*1140_?)dup" "r.(?)" "p.(?)" "" "0000873611" "00025424" "70" "-238" "0" "1623" "0" "c.(?_-238)_(*1140_?)dup" "r.(?)" "p.(?)" "" "0000873653" "00025424" "70" "" "0" "" "0" "c.(-35+1_c.-34-1)_(319+1_320-1)dup" "r.(?)" "p.(?)" "" "0000893350" "00025424" "50" "125" "0" "125" "0" "c.125G>A" "r.(?)" "p.(Cys42Tyr)" "" "0000893351" "00025424" "30" "79" "-6" "79" "-6" "c.79-6C>T" "r.(=)" "p.(=)" "" "0000893352" "00025424" "30" "-34" "-5" "-34" "-5" "c.-34-5C>T" "r.spl?" "p.?" "" "0000950799" "00025424" "10" "542" "0" "542" "0" "c.*59A>C" "r.(=)" "p.(=)" "" "0000950800" "00025424" "10" "179" "-83" "179" "-83" "c.179-83T>C" "r.(=)" "p.(=)" "" "0000950801" "00025424" "10" "178" "22" "178" "22" "c.178+22A>G" "r.(=)" "p.(=)" "" "0000950802" "00025424" "30" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(His51Arg)" "" "0000968678" "00025424" "30" "366" "0" "366" "0" "c.366G>A" "r.(?)" "p.(=)" "" "0000982315" "00025424" "30" "477" "0" "477" "0" "c.477C>T" "r.(?)" "p.(=)" "" "0000982316" "00025424" "30" "320" "-4" "320" "-4" "c.320-4C>T" "r.spl?" "p.?" "" "0001015472" "00025424" "10" "396" "0" "396" "0" "c.396C>T" "r.(?)" "p.(=)" "" "0001021150" "00025424" "90" "-238" "0" "1623" "0" "c.(?_-238)_(*1140_?)dup" "r.?" "p.?" "_1_5_" "0001048649" "00025424" "90" "179" "-2809" "179" "-2809" "c.179-2809A>G" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 148 "{{screeningid}}" "{{variantid}}" "0000000009" "0000000668" "0000036569" "0000063694" "0000036570" "0000063695" "0000036571" "0000063696" "0000036572" "0000063697" "0000036573" "0000063698" "0000036574" "0000063699" "0000036575" "0000063700" "0000036576" "0000063701" "0000036577" "0000063702" "0000036578" "0000063703" "0000036579" "0000063704" "0000036580" "0000063705" "0000036581" "0000063706" "0000150973" "0000244121" "0000208621" "0000438538" "0000208969" "0000439032" "0000211065" "0000442483" "0000211639" "0000443240" "0000211640" "0000443241" "0000211641" "0000443242" "0000211642" "0000443243" "0000211643" "0000443244" "0000211644" "0000443245" "0000211645" "0000443246" "0000211646" "0000443247" "0000211647" "0000443248" "0000211648" "0000443249" "0000211649" "0000443250" "0000211650" "0000443251" "0000211651" "0000443252" "0000211652" "0000443253" "0000211653" "0000443254" "0000211654" "0000443255" "0000211655" "0000443256" "0000211656" "0000443257" "0000211657" "0000443258" "0000211658" "0000443259" "0000211659" "0000443260" "0000211660" "0000443261" "0000211661" "0000443262" "0000211662" "0000443263" "0000211663" "0000443264" "0000211664" "0000443265" "0000211665" "0000443266" "0000211666" "0000443267" "0000211667" "0000443268" "0000211668" "0000443269" "0000211669" "0000443270" "0000211670" "0000443271" "0000211671" "0000443272" "0000211672" "0000443273" "0000211673" "0000443274" "0000211674" "0000443275" "0000211675" "0000443276" "0000211676" "0000443277" "0000211677" "0000443278" "0000211678" "0000443279" "0000211679" "0000443280" "0000211680" "0000443281" "0000211681" "0000443282" "0000211682" "0000443283" "0000211683" "0000443284" "0000211684" "0000443285" "0000211685" "0000443286" "0000211686" "0000443287" "0000211687" "0000443288" "0000211688" "0000443289" "0000211689" "0000443290" "0000211690" "0000443291" "0000211691" "0000443292" "0000211692" "0000443293" "0000211693" "0000443294" "0000211694" "0000443295" "0000211695" "0000443296" "0000211696" "0000443297" "0000211697" "0000443298" "0000211698" "0000443299" "0000211699" "0000443300" "0000211700" "0000443301" "0000211701" "0000443302" "0000211702" "0000443303" "0000211703" "0000443304" "0000211704" "0000443305" "0000211705" "0000443306" "0000220097" "0000454990" "0000220098" "0000454991" "0000220099" "0000454992" "0000220100" "0000454993" "0000220101" "0000454994" "0000220102" "0000454995" "0000220103" "0000454996" "0000220104" "0000454997" "0000220105" "0000454998" "0000220106" "0000454999" "0000220107" "0000455000" "0000220108" "0000455001" "0000220109" "0000455002" "0000220110" "0000455003" "0000220111" "0000455004" "0000220112" "0000455005" "0000220113" "0000455006" "0000220114" "0000455007" "0000220115" "0000455008" "0000220116" "0000455009" "0000230693" "0000472282" "0000230695" "0000472283" "0000230696" "0000472285" "0000230697" "0000472286" "0000245538" "0000497671" "0000265066" "0000595649" "0000265067" "0000595650" "0000292802" "0000649491" "0000292803" "0000649492" "0000292804" "0000649493" "0000297667" "0000663641" "0000297671" "0000660280" "0000297974" "0000660683" "0000301136" "0000664031" "0000301136" "0000664179" "0000301137" "0000664180" "0000301138" "0000664033" "0000301139" "0000664034" "0000301200" "0000664182" "0000301201" "0000664096" "0000301202" "0000664097" "0000301230" "0000664125" "0000301257" "0000664188" "0000301267" "0000664162" "0000301270" "0000664165" "0000305693" "0000669381" "0000305694" "0000669382" "0000306690" "0000670384" "0000312280" "0000693856" "0000375812" "0000787163" "0000410207" "0000847472" "0000410209" "0000847474" "0000410211" "0000847476" "0000410213" "0000847478" "0000410214" "0000847480" "0000415630" "0000873463" "0000415645" "0000873486" "0000415726" "0000873603" "0000415729" "0000873606" "0000415732" "0000873611" "0000415762" "0000873653" "0000461791" "0001021150" "0000468724" "0001048649"