### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KRT6A) # 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}}" "KRT6A" "keratin 6A" "12" "q13.13" "unknown" "NG_008298.1" "UD_132118530460" "" "https://www.LOVD.nl/KRT6A" "" "1" "6443" "3853" "148041" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KRT6A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-11-25 14:24:14" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010763" "KRT6A" "keratin 6A" "001" "NM_005554.3" "" "NP_005545.1" "" "" "" "-209" "2241" "1695" "52887181" "52880958" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04066" "PC3" "pachyonychia congenita, type 3 (PC-3)" "AD" "615726" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05989" "PC" "pachyonychia congenita" "" "" "" "" "" "00006" "2021-11-25 13:51:09" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KRT6A" "04066" "KRT6A" "05989" ## Individuals ## Do not remove or alter this header ## ## Count = 135 "{{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}}" "00392920" "" "" "" "3" "" "00006" "{PMID:Bowden 1995:7545493}" "4-generation family, 3 affected (F, 2M)" "F;M" "" "Slovenia" "" "0" "" "" "" "FamA" "00392921" "" "" "" "1" "" "00006" "{PMID:Terrinoni 2001:11886499}" "patient" "" "" "" "" "0" "" "" "" "Pat1" "00392922" "" "" "" "1" "" "00006" "{PMID:Terrinoni 2001:11886499}" "patient" "" "" "" "" "0" "" "" "" "Pat2" "00392923" "" "" "" "1" "" "00006" "{PMID:Terrinoni 2001:11886499}" "patient" "" "" "" "" "0" "" "" "" "Pat3" "00392924" "" "" "" "1" "" "00006" "{PMID:Terrinoni 2001:11886499}" "patient" "" "" "" "" "0" "" "" "" "Pat4" "00392925" "" "" "" "1" "" "00006" "{PMID:Terrinoni 2001:11886499}" "patient" "" "" "" "" "0" "" "" "" "Pat5" "00392926" "" "" "" "1" "" "00006" "{PMID:Terrinoni 2001:11886499}" "family" "" "" "" "" "0" "" "" "" "Pat6" "00392927" "" "" "" "1" "" "00006" "{PMID:Terrinoni 2001:11886499}" "patient" "" "" "" "" "0" "" "" "" "Pat7" "00392934" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1" "00392935" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2" "00392936" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam3" "00392937" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam4" "00392938" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam5" "00392939" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam6" "00392940" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam7" "00392941" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam8" "00392945" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam12" "00392946" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam13" "00392947" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam14" "00392948" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam15" "00392949" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam16" "00392950" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam17" "00392951" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam18" "00392952" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam19" "00392953" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam20" "00392964" "" "" "" "2" "" "00006" "{PMID:Du 2012:22668561}" "2-generation family, 1 affected mother/daughter; mother" "F" "" "China" "" "0" "" "" "" "family" "00392965" "" "" "00392964" "1" "" "00006" "{PMID:Du 2012:22668561}" "daughter" "F" "" "China" "" "0" "" "" "" "family" "00392969" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1" "00392970" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2" "00392971" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam3" "00392972" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam4" "00392973" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam5" "00392974" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam6" "00392975" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam7" "00392976" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam8" "00392977" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam9" "00392978" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam10" "00392979" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam11" "00392980" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam12" "00392981" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam13" "00392982" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam14" "00392983" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam15" "00392984" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam16" "00392985" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam17" "00392986" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam18" "00392987" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam19" "00392988" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam20" "00392989" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam21" "00392990" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam22" "00392991" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam23" "00392992" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam24" "00392993" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam25" "00392994" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam26" "00392995" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam27" "00392996" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam28" "00392997" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam29" "00392998" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam30" "00392999" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam31" "00393054" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1" "00393055" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2" "00393056" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam3" "00393057" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam4" "00393058" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam5" "00393059" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam6" "00393060" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam7" "00393061" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam8" "00393062" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam9" "00393063" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam10" "00393064" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam11" "00393065" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam12" "00393066" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam13" "00393067" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam14" "00393068" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam15" "00393069" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam16" "00393070" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam17" "00393071" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam18" "00393072" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam19" "00393073" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam20" "00393074" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam21" "00393075" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam22" "00393076" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam23" "00393077" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam24" "00393078" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam25" "00393079" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam26" "00393080" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam27" "00393081" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam28" "00393082" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam29" "00393083" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam30" "00393084" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam31" "00393085" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam32" "00393086" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam33" "00393087" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam34" "00393088" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam35" "00393089" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam36" "00393090" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam37" "00393091" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam38" "00393092" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam39" "00393093" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam40" "00393094" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam41" "00393095" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam42" "00393096" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam43" "00393097" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam44" "00393098" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam45" "00393099" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam46" "00393100" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam47" "00393156" "" "" "" "3" "" "00006" "{PMID:Smith 1999:10232400}" "3-generation family, 3 affected (2F, M)" "F" "" "United States" "" "0" "" "" "" "Fam1PatIII3" "00393157" "" "" "" "1" "" "00006" "{PMID:Smith 1999:10232400}" "3-generation family, 1 affected" "F" "" "United States" "" "0" "" "" "" "Fam2PatII1" "00393158" "" "" "" "1" "" "00006" "{PMID:Kang 2004:15387942}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00393159" "" "" "" "1" "" "00006" "{PMID:Garcia-Rio 2005:15840119}" "" "F" "" "Spain" "" "0" "" "" "" "patient" "00393160" "" "" "" "1" "" "00006" "{PMID:Zhou 2007:17309457}" "2-generation family, 1 affected, unaffected parents" "F" "" "China" "" "0" "" "" "" "patient" "00393165" "" "" "" "9" "" "00006" "{PMID:Bai 2008:18489596}" "5-generation family, 9 affected (6F, 3M)" "F" "" "China" "" "0" "" "" "" "Fam1PatIII4" "00393166" "" "" "" "1" "" "00006" "{PMID:Bai 2008:18489596}" "" "F" "" "China" "" "0" "" "" "" "patient" "00393168" "" "" "" "2" "" "00006" "{PMID:Liao 2007:17719747}" "3-generation family" "" "" "" "" "0" "" "" "" "Fam1" "00393169" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "patient" "" "" "" "" "0" "" "" "" "Fam2" "00393170" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "patient" "" "" "" "" "0" "" "" "" "Fam3" "00393171" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "" "" "" "" "" "0" "" "" "" "Fam4" "00393172" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "patient" "" "" "" "" "0" "" "" "" "Fam5" "00393173" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "patient" "" "" "" "" "0" "" "" "" "Fam6" "00393174" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "patient" "" "" "" "" "0" "" "" "" "Fam7" "00393175" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "family" "" "" "" "" "0" "" "" "" "Fam8" "00393176" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "patient" "" "" "" "" "0" "" "" "" "Fam9" "00393177" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "patient" "" "" "" "" "0" "" "" "" "Fam10" "00393178" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "patient" "" "" "" "" "0" "" "" "" "Fam11" "00393179" "" "" "" "5" "" "00006" "{PMID:Liao 2007:17719747}" "3-generation family, 5 affected" "" "" "" "" "0" "" "" "" "Fam12" "00393180" "" "" "" "2" "" "00006" "{PMID:Liao 2007:17719747}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "" "Fam13" "00393181" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "patient" "" "" "" "" "0" "" "" "" "Fam14" "00393182" "" "" "" "12" "" "00006" "{PMID:Liao 2007:17719747}" "3-generation family, 12 affected" "" "" "" "" "0" "" "" "" "Fam15" "00393190" "" "" "" "1" "" "00006" "{PMID:Lv 2009:19416275}" "patient" "" "" "China" "" "0" "" "" "Hunan" "SP1" "00393191" "" "" "" "1" "" "00006" "{PMID:Lv 2009:19416275}" "patient" "" "" "China" "" "0" "" "" "Anhui" "SP2" "00393192" "" "" "" "1" "" "00006" "{PMID:Lv 2009:19416275}" "patient" "" "" "China" "" "0" "" "" "Shandong" "SP3" "00393193" "" "" "" "1" "" "00006" "{PMID:Lv 2009:19416275}" "patient" "" "" "China" "" "0" "" "" "Sichuan" "SP4" "00393194" "" "" "" "1" "" "00006" "{PMID:Lv 2009:19416275}" "family" "" "" "China" "" "0" "" "" "Shandong" "F1" "00393195" "" "" "" "2" "" "00006" "{PMID:Lv 2009:19416275}" "family" "" "" "China" "" "0" "" "" "Shandong" "F2" "00393196" "" "" "" "3" "" "00006" "{PMID:Lv 2009:19416275}" "family" "" "" "China" "" "0" "" "" "Anhui" "F3" "00393197" "" "" "" "5" "" "00006" "{PMID:Lv 2009:19416275}" "family" "" "" "China" "" "0" "" "" "Hebei" "F4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 135 "{{individualid}}" "{{diseaseid}}" "00392920" "04066" "00392921" "05989" "00392922" "05989" "00392923" "05989" "00392924" "05989" "00392925" "05989" "00392926" "05989" "00392927" "05989" "00392934" "05989" "00392935" "05989" "00392936" "05989" "00392937" "05989" "00392938" "05989" "00392939" "05989" "00392940" "05989" "00392941" "05989" "00392945" "05989" "00392946" "05989" "00392947" "05989" "00392948" "05989" "00392949" "05989" "00392950" "05989" "00392951" "05989" "00392952" "05989" "00392953" "05989" "00392964" "05989" "00392965" "05989" "00392969" "05989" "00392970" "05989" "00392971" "05989" "00392972" "05989" "00392973" "05989" "00392974" "05989" "00392975" "05989" "00392976" "05989" "00392977" "05989" "00392978" "05989" "00392979" "05989" "00392980" "05989" "00392981" "05989" "00392982" "05989" "00392983" "05989" "00392984" "05989" "00392985" "05989" "00392986" "05989" "00392987" "05989" "00392988" "05989" "00392989" "05989" "00392990" "05989" "00392991" "05989" "00392992" "05989" "00392993" "05989" "00392994" "05989" "00392995" "05989" "00392996" "05989" "00392997" "05989" "00392998" "05989" "00392999" "05989" "00393054" "05989" "00393055" "05989" "00393056" "05989" "00393057" "05989" "00393058" "05989" "00393059" "05989" "00393060" "05989" "00393061" "05989" "00393062" "05989" "00393063" "05989" "00393064" "05989" "00393065" "05989" "00393066" "05989" "00393067" "05989" "00393068" "05989" "00393069" "05989" "00393070" "05989" "00393071" "05989" "00393072" "05989" "00393073" "05989" "00393074" "05989" "00393075" "05989" "00393076" "05989" "00393077" "05989" "00393078" "05989" "00393079" "05989" "00393080" "05989" "00393081" "05989" "00393082" "05989" "00393083" "05989" "00393084" "05989" "00393085" "05989" "00393086" "05989" "00393087" "05989" "00393088" "05989" "00393089" "05989" "00393090" "05989" "00393091" "05989" "00393092" "05989" "00393093" "05989" "00393094" "05989" "00393095" "05989" "00393096" "05989" "00393097" "05989" "00393098" "05989" "00393099" "05989" "00393100" "05989" "00393156" "05989" "00393157" "05989" "00393158" "05989" "00393159" "05989" "00393160" "05989" "00393165" "05989" "00393166" "05989" "00393168" "05989" "00393169" "05989" "00393170" "05989" "00393171" "05989" "00393172" "05989" "00393173" "05989" "00393174" "05989" "00393175" "05989" "00393176" "05989" "00393177" "05989" "00393178" "05989" "00393179" "05989" "00393180" "05989" "00393181" "05989" "00393182" "05989" "00393190" "05989" "00393191" "05989" "00393192" "05989" "00393193" "05989" "00393194" "05989" "00393195" "05989" "00393196" "05989" "00393197" "05989" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04066, 05989 ## Count = 135 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000286161" "04066" "00392920" "00006" "Familial, autosomal dominant" "" "see paper; ...,pachyonychia congenita Jadassohn-Lewandowsky type, thickened nails, palmoplantar keratoderma, leukokeratosis tongue" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286162" "05989" "00392921" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; no palmoplantar keratoderma; no oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286163" "05989" "00392922" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286164" "05989" "00392923" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286165" "05989" "00392924" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; no palmoplantar keratoderma; no oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286166" "05989" "00392925" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; no palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286167" "05989" "00392926" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286168" "05989" "00392927" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286175" "05989" "00392934" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286176" "05989" "00392935" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286177" "05989" "00392936" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286178" "05989" "00392937" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286179" "05989" "00392938" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286180" "05989" "00392939" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286181" "05989" "00392940" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286182" "05989" "00392941" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286186" "05989" "00392945" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286187" "05989" "00392946" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286188" "05989" "00392947" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286189" "05989" "00392948" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286190" "05989" "00392949" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286191" "05989" "00392950" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286192" "05989" "00392951" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286193" "05989" "00392952" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286194" "05989" "00392953" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286205" "05989" "00392964" "00006" "Familial, autosomal dominant" "32y" "see paper; ..., toenail thickening, plantar hyperkeratosis with fissuring, mild focal palmar hyperkeratosis, no fingernail changes, oral leukokeratosis, chapped lips, fissured tongue, hyperhidrosis hands and feet" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286206" "05989" "00392965" "00006" "Familial, autosomal dominant" "07y" "see paper; ..., focal plantar hyperkeratosis, fissured tongue, gingivitis, no nail involvement, no hand involvement, hyperhidrosis hands and feet" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286210" "05989" "00392969" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286211" "05989" "00392970" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, very mild palmoplantar keratoderma, no plantar pain, 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286212" "05989" "00392971" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286213" "05989" "00392972" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286214" "05989" "00392973" "00006" "Isolated (sporadic)" "<2y" "pachyonychia congenita, born without teeth, 10 thickened fingernails, 2 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286215" "05989" "00392974" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286216" "05989" "00392975" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286217" "05989" "00392976" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, steatocystoma, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286218" "05989" "00392977" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, no plantar pain, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286219" "05989" "00392978" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286220" "05989" "00392979" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286221" "05989" "00392980" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286222" "05989" "00392981" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286223" "05989" "00392982" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286224" "05989" "00392983" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286225" "05989" "00392984" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain requires medication, 6 thickened fingernails, 10 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286226" "05989" "00392985" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, somewhat plantar pain, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286227" "05989" "00392986" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286228" "05989" "00392987" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286229" "05989" "00392988" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, plantar keratoderma, somewhat plantar pain, 5 thickened fingernails, 10 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286230" "05989" "00392989" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 5 thickened fingernails, 10 thickened toenails, oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286231" "05989" "00392990" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286232" "05989" "00392991" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286233" "05989" "00392992" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286234" "05989" "00392993" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286235" "05989" "00392994" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, steatocystoma, pilosebaceous cysts," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286236" "05989" "00392995" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286237" "05989" "00392996" "00006" "Isolated (sporadic)" "<3y" "pachyonychia congenita, born without teeth, plantar keratoderma, <3y-no plantar pain, 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, small red bumps and occasional spots face (could be baby acne)" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286238" "05989" "00392997" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286239" "05989" "00392998" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 10 fingernails, 7 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286240" "05989" "00392999" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 2 thickened fingernails, 10 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286295" "05989" "00393054" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 2y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286296" "05989" "00393055" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 30y-thickened toenails, 3m-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286297" "05989" "00393056" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286298" "05989" "00393057" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 1y-thickened toenails, 1y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286299" "05989" "00393058" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 6y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286300" "05989" "00393059" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 3m-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286301" "05989" "00393060" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 1m-thickened fingernails, 14y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286302" "05989" "00393061" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y6m-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286303" "05989" "00393062" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286304" "05989" "00393063" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 3m-thickened toenails, 3m-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286305" "05989" "00393064" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286306" "05989" "00393065" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 2m-thickened toenails, 2m-thickened fingernails, 6y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286307" "05989" "00393066" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286308" "05989" "00393067" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 9y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286309" "05989" "00393068" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286310" "05989" "00393069" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 1y6m-thickened toenails, 3m-thickened fingernails, 8y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286311" "05989" "00393070" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y6m-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286312" "05989" "00393071" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0d-thickened fingernails, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286313" "05989" "00393072" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 1y-thickened toenails, 0y-thickened fingernails, 4y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286314" "05989" "00393073" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286315" "05989" "00393074" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 14d-thickened toenails, 14d-thickened fingernails, 1m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286316" "05989" "00393075" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286317" "05989" "00393076" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 7y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286318" "05989" "00393077" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 6m-thickened toenails, 6m-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286319" "05989" "00393078" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 6y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286320" "05989" "00393079" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286321" "05989" "00393080" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 3y-thickened toenails, 3y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286322" "05989" "00393081" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 3y-thickened toenails, 3y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286323" "05989" "00393082" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286324" "05989" "00393083" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 6y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286325" "05989" "00393084" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 13y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286326" "05989" "00393085" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 1y-thickened toenails, 1y-thickened fingernails, 6y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286327" "05989" "00393086" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 10y-thickened toenails, 15y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286328" "05989" "00393087" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 2y-thickened toenails, 2y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286329" "05989" "00393088" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286330" "05989" "00393089" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 0y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286331" "05989" "00393090" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 0y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286332" "05989" "00393091" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286333" "05989" "00393092" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286334" "05989" "00393093" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 6m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286335" "05989" "00393094" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 1y-thickened toenails, 1y-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286336" "05989" "00393095" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286337" "05989" "00393096" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286338" "05989" "00393097" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 2m-thickened toenails, 2m-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286339" "05989" "00393098" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 0y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286340" "05989" "00393099" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 1y6m-thickened toenails, 1y6m-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286341" "05989" "00393100" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 2m-thickened toenails, 2m-thickened fingernails, 2y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286396" "05989" "00393156" "00006" "Familial, autosomal dominant" "15y" "pachyonychia congenita since birth; all fingernails thickened, all toenails thickened; focal plantar keratoderma over pressure points with blistering of feet during summer months or following prolonged walking; oral leukokeratosis affecting sides tongue and buccal mucosa; follicular keratosis on extensor aspect elbows, knees and lower legs; normal hair, normal teeth" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286397" "05989" "00393157" "00006" "Familial, autosomal dominant" "04y" "subungual hyperkeratosis all 20 nails; keratosis pilaris affecting lateral aspect upper arms and cheeks; no oral leukokeratosis, no palmoplantar keratoderma" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286398" "05989" "00393158" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286399" "05989" "00393159" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286400" "05989" "00393160" "00006" "Unknown" "12y" "see paper; ..., thick nails since birth, gradual development thick plantar keratoderma; hyperhidrosis hands and feet; typical symmetrical thickening all fingernails/toenails with yellow-greyish colour; yellowish thick plaques with fissures on both soles; follicular hyperkeratosis on buttocks and thighs; normal hair, no natal teeth, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286405" "05989" "00393165" "00006" "Familial, autosomal dominant" "65y" "see paper; ..., all nails thickened; 1d-oral leucokeratosis; focal plantar keratoderma over pressure points with blistering feet during summer months or after prolonged walking; 15y-scattered follicular keratoses elbows, knees and buttocks" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286406" "05989" "00393166" "00006" "Familial, autosomal dominant" "24y" "see paper; ..., 1d-all nails thickened (fingers, toes); follicular hyperkeratosis buttocks; no oral leucokeratosis; normal hair, no natal teeth, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286408" "05989" "00393168" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1; 3y-nail changes; 3y-18y-plantar keratosis; no oral leukokeraotsis; persistent palmo-plantar erythema" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286409" "05989" "00393169" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; 2d-nail changes; 3y-12y-plantar keratosis; oral leukokeraotsis; follicular keratoses; plantar blisters" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286410" "05989" "00393170" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; 1d-nail changes; 3y-plantar keratosis; oral leukokeraotsis; follicular keratoses; plantar blisters; atypical, inflammatory distribution of plantar keratoderma onto dorsal aspect feet" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286411" "05989" "00393171" "00006" "Unknown" "" "pachyonychia congenita type 1; 1d-nail changes; no plantar keratosis; oral leukokeraotsis; follicular keratoses; 2y-no nail dystropy" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286412" "05989" "00393172" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; 1d-nail changes; 10y-plantar keratosis; oral leukokeraotsis; follicular keratoses; plantar blisters" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286413" "05989" "00393173" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; infancy-nail changes; 3y-plantar keratosis; oral leukokeraotsis; follicular keratoses; plantar blisters" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286414" "05989" "00393174" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; 1d-nail changes; oral leukokeraotsis; no follicular keratoses" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286415" "05989" "00393175" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1; oral leukokeraotsis" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286416" "05989" "00393176" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; 1d-nail changes; 3y-plantar keratosis; oral leukokeraotsis; follicular keratoses; plantar blisters" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286417" "05989" "00393177" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; infancy-nail changes; 3y-plantar keratosis; oral leukokeraotsis; follicular keratoses; early tooth loss/decay; build up of ear wax" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286418" "05989" "00393178" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286419" "05989" "00393179" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1; 1d-nail changes; 3y-plantar keratosis; oral leukokeraotsis; follicular keratoses; plantar blisters" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286420" "05989" "00393180" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1; 1d-nail changes; 3y-plantar keratosis; oral leukokeraotsis; follicular keratoses; plantar blisters" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286421" "05989" "00393181" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; 15d-nail changes; 6m-plantar keratosis; oral leukokeraotsis; follicular keratoses; plantar blisters" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286422" "05989" "00393182" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1; infancy-nail changes; 3y-plantar keratosis; oral leukokeraotsis; follicular keratoses; plantar blisters" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286430" "05989" "00393190" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; palmoplantar keratoderma; oral leucokeratosis; follicular hyperkeratosis; hoarseness; no hyperhidrosis; no keratosis pilaris; no angular cheilitis" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286431" "05989" "00393191" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; palmoplantar keratoderma; no oral leucokeratosis; follicular hyperkeratosis; no hoarseness; no hyperhidrosis; keratosis pilaris; angular cheilitis" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286432" "05989" "00393192" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; palmoplantar keratoderma; no oral leucokeratosis; follicular hyperkeratosis; no hoarseness; no hyperhidrosis; keratosis pilaris; angular cheilitis" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286433" "05989" "00393193" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; palmoplantar keratoderma; oral leucokeratosis; follicular hyperkeratosis; hoarseness; hyperhidrosis; keratosis pilaris; angular cheilitis" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286434" "05989" "00393194" "00006" "Familial, autosomal dominant" "" "1/1 pachyonychia congenita type 1; 1/1 palmoplantar keratoderma; 1/1 oral leucokeratosis; 1/1 follicular hyperkeratosis; no hoarseness; 1/1 hyperhidrosis; no keratosis pilaris; no angular cheilitis" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286435" "05989" "00393195" "00006" "Familial, autosomal dominant" "" "2/2 pachyonychia congenita type 1; 2/2 palmoplantar keratoderma; no oral leucokeratosis; no follicular hyperkeratosis; no hoarseness; 2/2 hyperhidrosis; no keratosis pilaris; no angular cheilitis" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286436" "05989" "00393196" "00006" "Familial, autosomal dominant" "" "3/3 pachyonychia congenita type 1; 3/3 palmoplantar keratoderma; 3/3 oral leucokeratosis; no follicular hyperkeratosis; no hoarseness; 3/3 hyperhidrosis; no keratosis pilaris; no angular cheilitis" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" "0000286437" "05989" "00393197" "00006" "Familial, autosomal dominant" "" "5/5 pachyonychia congenita type 1; 5/5 palmoplantar keratoderma; 5/5 oral leucokeratosis; 5/5 follicular hyperkeratosis; no hoarseness; 5/5 hyperhidrosis; no keratosis pilaris; no angular cheilitis" "" "" "" "" "" "" "" "PC3" "pachyonychia congenita" ## Screenings ## Do not remove or alter this header ## ## Count = 135 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000394168" "00392920" "1" "00006" "00006" "2021-11-25 13:07:26" "" "" "SEQ" "DNA" "" "" "0000394169" "00392921" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394170" "00392922" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394171" "00392923" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394172" "00392924" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394173" "00392925" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394174" "00392926" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394175" "00392927" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394182" "00392934" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394183" "00392935" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394184" "00392936" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394185" "00392937" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394186" "00392938" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394187" "00392939" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394188" "00392940" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394189" "00392941" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394193" "00392945" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394194" "00392946" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394195" "00392947" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394196" "00392948" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394197" "00392949" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394198" "00392950" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394199" "00392951" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394200" "00392952" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394201" "00392953" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394212" "00392964" "1" "00006" "00006" "2021-11-25 14:35:38" "00006" "2021-11-25 14:39:39" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000394213" "00392965" "1" "00006" "00006" "2021-11-25 14:43:03" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000394217" "00392969" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394218" "00392970" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394219" "00392971" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394220" "00392972" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394221" "00392973" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394222" "00392974" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394223" "00392975" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394224" "00392976" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394225" "00392977" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394226" "00392978" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394227" "00392979" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394228" "00392980" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394229" "00392981" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394230" "00392982" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394231" "00392983" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394232" "00392984" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394233" "00392985" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394234" "00392986" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394235" "00392987" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394236" "00392988" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394237" "00392989" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394238" "00392990" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394239" "00392991" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394240" "00392992" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394241" "00392993" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394242" "00392994" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394243" "00392995" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394244" "00392996" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394245" "00392997" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394246" "00392998" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394247" "00392999" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394302" "00393054" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394303" "00393055" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394304" "00393056" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394305" "00393057" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394306" "00393058" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394307" "00393059" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394308" "00393060" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394309" "00393061" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394310" "00393062" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394311" "00393063" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394312" "00393064" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394313" "00393065" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394314" "00393066" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394315" "00393067" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394316" "00393068" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394317" "00393069" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394318" "00393070" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394319" "00393071" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394320" "00393072" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394321" "00393073" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394322" "00393074" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394323" "00393075" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394324" "00393076" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394325" "00393077" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394326" "00393078" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394327" "00393079" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394328" "00393080" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394329" "00393081" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394330" "00393082" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394331" "00393083" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394332" "00393084" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394333" "00393085" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394334" "00393086" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394335" "00393087" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394336" "00393088" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394337" "00393089" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394338" "00393090" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394339" "00393091" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394340" "00393092" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394341" "00393093" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394342" "00393094" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394343" "00393095" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394344" "00393096" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394345" "00393097" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394346" "00393098" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394347" "00393099" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394348" "00393100" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394404" "00393156" "1" "00006" "00006" "2021-11-26 14:50:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000394405" "00393157" "1" "00006" "00006" "2021-11-26 14:56:40" "00006" "2021-11-26 14:59:49" "SEQ" "DNA" "" "" "0000394406" "00393158" "1" "00006" "00006" "2021-11-26 15:03:52" "00006" "2021-11-26 15:07:27" "SEQ" "DNA" "" "" "0000394407" "00393159" "1" "00006" "00006" "2021-11-26 15:10:47" "" "" "SEQ" "DNA" "" "" "0000394408" "00393160" "1" "00006" "00006" "2021-11-26 15:16:34" "" "" "SEQ" "DNA" "" "" "0000394413" "00393165" "1" "00006" "00006" "2021-11-26 16:32:27" "" "" "SEQ" "DNA" "" "" "0000394414" "00393166" "1" "00006" "00006" "2021-11-26 16:38:21" "" "" "SEQ" "DNA" "" "" "0000394416" "00393168" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394417" "00393169" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394418" "00393170" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394419" "00393171" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394420" "00393172" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394421" "00393173" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394422" "00393174" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394423" "00393175" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394424" "00393176" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394425" "00393177" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394426" "00393178" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394427" "00393179" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394428" "00393180" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394429" "00393181" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394430" "00393182" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394438" "00393190" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394439" "00393191" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394440" "00393192" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394441" "00393193" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394442" "00393194" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394443" "00393195" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394444" "00393196" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394445" "00393197" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 135 "{{screeningid}}" "{{geneid}}" "0000394168" "KRT6A" "0000394169" "KRT6A" "0000394170" "KRT6A" "0000394171" "KRT6A" "0000394172" "KRT6A" "0000394173" "KRT6A" "0000394174" "KRT6A" "0000394175" "KRT6A" "0000394182" "KRT6A" "0000394183" "KRT6A" "0000394184" "KRT6A" "0000394185" "KRT6A" "0000394186" "KRT6A" "0000394187" "KRT6A" "0000394188" "KRT6A" "0000394189" "KRT6A" "0000394193" "KRT6A" "0000394194" "KRT6A" "0000394195" "KRT6A" "0000394196" "KRT6A" "0000394197" "KRT6A" "0000394198" "KRT6A" "0000394199" "KRT6A" "0000394200" "KRT6A" "0000394201" "KRT6A" "0000394212" "KRT6A" "0000394213" "KRT6A" "0000394217" "KRT6A" "0000394218" "KRT6A" "0000394219" "KRT6A" "0000394220" "KRT6A" "0000394221" "KRT6A" "0000394222" "KRT6A" "0000394223" "KRT6A" "0000394224" "KRT6A" "0000394225" "KRT6A" "0000394226" "KRT6A" "0000394227" "KRT6A" "0000394228" "KRT6A" "0000394229" "KRT6A" "0000394230" "KRT6A" "0000394231" "KRT6A" "0000394232" "KRT6A" "0000394233" "KRT6A" "0000394234" "KRT6A" "0000394235" "KRT6A" "0000394236" "KRT6A" "0000394237" "KRT6A" "0000394238" "KRT6A" "0000394239" "KRT6A" "0000394240" "KRT6A" "0000394241" "KRT6A" "0000394242" "KRT6A" "0000394243" "KRT6A" "0000394244" "KRT6A" "0000394245" "KRT6A" "0000394246" "KRT6A" "0000394247" "KRT6A" "0000394302" "KRT6A" "0000394303" "KRT6A" "0000394304" "KRT6A" "0000394305" "KRT6A" "0000394306" "KRT6A" "0000394307" "KRT6A" "0000394308" "KRT6A" "0000394309" "KRT6A" "0000394310" "KRT6A" "0000394311" "KRT6A" "0000394312" "KRT6A" "0000394313" "KRT6A" "0000394314" "KRT6A" "0000394315" "KRT6A" "0000394316" "KRT6A" "0000394317" "KRT6A" "0000394318" "KRT6A" "0000394319" "KRT6A" "0000394320" "KRT6A" "0000394321" "KRT6A" "0000394322" "KRT6A" "0000394323" "KRT6A" "0000394324" "KRT6A" "0000394325" "KRT6A" "0000394326" "KRT6A" "0000394327" "KRT6A" "0000394328" "KRT6A" "0000394329" "KRT6A" "0000394330" "KRT6A" "0000394331" "KRT6A" "0000394332" "KRT6A" "0000394333" "KRT6A" "0000394334" "KRT6A" "0000394335" "KRT6A" "0000394336" "KRT6A" "0000394337" "KRT6A" "0000394338" "KRT6A" "0000394339" "KRT6A" "0000394340" "KRT6A" "0000394341" "KRT6A" "0000394342" "KRT6A" "0000394343" "KRT6A" "0000394344" "KRT6A" "0000394345" "KRT6A" "0000394346" "KRT6A" "0000394347" "KRT6A" "0000394348" "KRT6A" "0000394404" "KRT6A" "0000394405" "KRT6A" "0000394406" "KRT6A" "0000394407" "KRT6A" "0000394408" "KRT6A" "0000394413" "KRT6A" "0000394414" "KRT6A" "0000394416" "KRT6A" "0000394417" "KRT6A" "0000394418" "KRT6A" "0000394419" "KRT6A" "0000394420" "KRT6A" "0000394421" "KRT6A" "0000394422" "KRT6A" "0000394423" "KRT6A" "0000394424" "KRT6A" "0000394425" "KRT6A" "0000394426" "KRT6A" "0000394427" "KRT6A" "0000394428" "KRT6A" "0000394429" "KRT6A" "0000394430" "KRT6A" "0000394438" "KRT6A" "0000394439" "KRT6A" "0000394440" "KRT6A" "0000394441" "KRT6A" "0000394442" "KRT6A" "0000394443" "KRT6A" "0000394444" "KRT6A" "0000394445" "KRT6A" ## 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 = 149 "{{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}}" "0000248661" "0" "10" "12" "52886490" "52886490" "subst" "0.545991" "02325" "KRT6A_000005" "g.52886490A>G" "" "" "" "KRT6A(NM_005554.4):c.483T>C (p.A161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52492706A>G" "" "benign" "" "0000281905" "0" "30" "12" "52881722" "52881722" "subst" "0.00016653" "02325" "KRT6A_000002" "g.52881722C>T" "" "" "" "KRT6A(NM_005554.4):c.1477G>A (p.V493I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52487938C>T" "" "likely benign" "" "0000281906" "0" "30" "12" "52881632" "52881632" "subst" "0.000743727" "02325" "KRT6A_000001" "g.52881632C>T" "" "" "" "KRT6A(NM_005554.4):c.1567G>A (p.V523I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52487848C>T" "" "likely benign" "" "0000281907" "0" "10" "12" "52886641" "52886641" "subst" "0" "02325" "KRT6A_000007" "g.52886641C>T" "" "" "" "KRT6A(NM_005554.4):c.332G>A (p.G111D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52492857C>T" "" "benign" "" "0000281908" "0" "10" "12" "52886478" "52886478" "subst" "0.359604" "02325" "KRT6A_000004" "g.52886478T>C" "" "" "" "KRT6A(NM_005554.4):c.495A>G (p.E165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52492694T>C" "" "benign" "" "0000281909" "0" "30" "12" "52885374" "52885374" "subst" "0.000596059" "02325" "KRT6A_000003" "g.52885374G>A" "" "" "" "KRT6A(NM_005554.4):c.687C>T (p.V229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52491590G>A" "" "likely benign" "" "0000290570" "0" "10" "12" "52886513" "52886513" "subst" "0.0040283" "01943" "KRT6A_000006" "g.52886513G>C" "" "" "" "KRT6A(NM_005554.4):c.460C>G (p.P154A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52492729G>C" "" "benign" "" "0000679584" "0" "50" "12" "52882292" "52882292" "subst" "0.000548228" "02325" "KRT6A_000008" "g.52882292C>T" "" "" "" "KRT6A(NM_005554.4):c.1244G>A (p.R415H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691375" "0" "50" "12" "52886711" "52886711" "subst" "0" "01943" "KRT6A_000009" "g.52886711C>T" "" "" "" "KRT6A(NM_005554.4):c.262G>A (p.G88R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000825080" "11" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Bowden 1995:7545493}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic (dominant)" "" "0000825081" "0" "90" "12" "52886453" "52886453" "subst" "0" "00006" "KRT6A_000043" "g.52886453A>C" "" "{PMID:Terrinoni 2001:11886499}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492669A>C" "" "pathogenic" "" "0000825082" "0" "90" "12" "52882122" "52882122" "subst" "0" "00006" "KRT6A_000023" "g.52882122C>T" "" "{PMID:Terrinoni 2001:11886499}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52488338C>T" "" "pathogenic" "" "0000825083" "0" "90" "12" "52882130" "52882130" "subst" "0" "00006" "KRT6A_000025" "g.52882130A>C" "" "{PMID:Terrinoni 2001:11886499}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52488346A>C" "" "pathogenic" "" "0000825084" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Terrinoni 2001:11886499}" "" "N171del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825085" "0" "90" "12" "52886452" "52886452" "subst" "0" "00006" "KRT6A_000013" "g.52886452A>G" "" "{PMID:Terrinoni 2001:11886499}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492668A>G" "" "pathogenic" "" "0000825086" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Terrinoni 2001:11886499}" "" "N171del" "" "Germline" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825087" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Terrinoni 2001:11886499}" "" "N171del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825094" "0" "90" "12" "52886473" "52886473" "subst" "0" "00006" "KRT6A_000049" "g.52886473A>T" "" "{PMID:Smith 2005:16250206}" "Sau3A-" "" "" "Germline" "" "" "0" "" "" "g.52492689A>T" "" "pathogenic" "" "0000825095" "0" "90" "12" "52886465" "52886465" "subst" "0" "00006" "KRT6A_000048" "g.52886465G>A" "" "{PMID:Smith 2005:16250206}" "" "" "" "Germline" "" "" "0" "" "" "g.52492681G>A" "" "pathogenic" "" "0000825096" "0" "90" "12" "52886461" "52886461" "subst" "0" "00006" "KRT6A_000045" "g.52886461T>C" "" "{PMID:Smith 2005:16250206}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677T>C" "" "pathogenic" "" "0000825097" "0" "90" "12" "52886447" "52886447" "subst" "0" "00006" "KRT6A_000041" "g.52886447A>G" "" "{PMID:Smith 2005:16250206}" "" "" "" "Germline" "" "" "0" "" "" "g.52492663A>G" "" "pathogenic" "" "0000825098" "0" "90" "12" "52882151" "52882151" "subst" "0" "00006" "KRT6A_000031" "g.52882151A>T" "" "{PMID:Smith 2005:16250206}" "Sau3A-" "" "" "Germline" "" "" "0" "" "" "g.52488367A>T" "" "pathogenic" "" "0000825099" "0" "90" "12" "52882133" "52882133" "subst" "0" "00006" "KRT6A_000027" "g.52882133A>G" "" "{PMID:Smith 2005:16250206}" "" "" "" "Germline" "" "" "0" "" "" "g.52488349A>G" "" "pathogenic" "" "0000825100" "0" "90" "12" "52882130" "52882130" "subst" "0" "00006" "KRT6A_000026" "g.52882130A>G" "" "{PMID:Smith 2005:16250206}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52488346A>G" "" "pathogenic" "" "0000825101" "0" "90" "12" "52882124" "52882125" "ins" "0" "00006" "KRT6A_000024" "g.52882124_52882125insN[117]" "" "{PMID:Smith 2005:16250206}" "" "1410ins117 (E470ins39)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52488340_52488341insN[117]" "" "pathogenic" "" "0000825105" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Smith 2005:16250206}" "" "511-513del (N171del)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825106" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Smith 2005:16250206}" "" "511-513del (N171del)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825107" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Smith 2005:16250206}" "" "511-513del (N171del)" "" "Germline" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825108" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Smith 2005:16250206}" "" "511-513del (N171del)" "" "Germline" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825109" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Smith 2005:16250206}" "" "511-513del (N171del)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825110" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Smith 2005:16250206}" "" "511-513del (N171del)" "" "Germline" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825111" "0" "90" "12" "52886460" "52886460" "subst" "0" "00006" "KRT6A_000012" "g.52886460G>T" "" "{PMID:Smith 2005:16250206}" "" "513C>A" "" "Germline" "" "" "0" "" "" "g.52492676G>T" "" "pathogenic" "" "0000825112" "0" "90" "12" "52886452" "52886452" "subst" "0" "00006" "KRT6A_000013" "g.52886452A>G" "" "{PMID:Smith 2005:16250206}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492668A>G" "" "pathogenic" "" "0000825113" "0" "90" "12" "52886452" "52886452" "subst" "0" "00006" "KRT6A_000013" "g.52886452A>G" "" "{PMID:Smith 2005:16250206}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492668A>G" "" "pathogenic" "" "0000825124" "0" "90" "12" "52881741" "52881741" "subst" "0" "00006" "KRT6A_000011" "g.52881741T>G" "" "{PMID:Du 2012:22668561}" "" "IVS8-2A>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000825125" "0" "90" "12" "52881741" "52881741" "subst" "0" "00006" "KRT6A_000011" "g.52881741T>G" "" "{PMID:Du 2012:22668561}" "" "IVS8-2A>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000825130" "0" "90" "12" "52886486" "52886486" "subst" "0" "00006" "KRT6A_000053" "g.52886486C>T" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.52492702C>T" "" "pathogenic" "" "0000825131" "0" "90" "12" "52886465" "52886465" "subst" "0" "00006" "KRT6A_000048" "g.52886465G>A" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492681G>A" "" "pathogenic" "" "0000825132" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Wilson 2014:24611874}" "" "c.516_518delCAA" "" "Germline" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825133" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Wilson 2014:24611874}" "" "c.516_518delCAA" "" "Germline" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825134" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Wilson 2014:24611874}" "" "c.516_518delCAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825135" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Wilson 2014:24611874}" "" "c.516_518delCAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825136" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Wilson 2014:24611874}" "" "c.516_518delCAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825137" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Wilson 2014:24611874}" "" "c.516_518delCAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825138" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Wilson 2014:24611874}" "" "c.516_518delCAA" "" "Germline" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825139" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Wilson 2014:24611874}" "" "c.516_518delCAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825140" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Wilson 2014:24611874}" "" "c.516_518delCAA" "" "Germline/De novo 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"12" "52882143" "52882143" "subst" "0" "00006" "KRT6A_000017" "g.52882143A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52488359A>G" "" "pathogenic" "" "0000825254" "0" "90" "12" "52882133" "52882133" "subst" "0" "00006" "KRT6A_000027" "g.52882133A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52488349A>G" "" "pathogenic" "" "0000825255" "0" "90" "12" "52882133" "52882133" "subst" "0" "00006" "KRT6A_000027" "g.52882133A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52488349A>G" "" "pathogenic" "" "0000825256" "0" "90" "12" "52882133" "52882133" "subst" "0" "00006" "KRT6A_000027" "g.52882133A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52488349A>G" "" "pathogenic" "" "0000825257" "0" "90" "12" "52882130" "52882130" "subst" "0" "00006" "KRT6A_000026" "g.52882130A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52488346A>G" "" "pathogenic" "" "0000825258" "0" "90" "12" "52882130" "52882130" "subst" "0" "00006" "KRT6A_000025" "g.52882130A>C" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52488346A>C" "" "pathogenic" "" "0000825259" "0" "90" "12" "52882120" "52882120" "subst" "0" "00006" "KRT6A_000022" "g.52882120C>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52488336C>G" "" "pathogenic" "" "0000825260" "0" "90" "12" "52882122" "52882122" "subst" "0" "00006" "KRT6A_000023" "g.52882122C>T" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.52488338C>T" "" "pathogenic" "" "0000825261" "0" "90" "12" "52882122" "52882122" "subst" "0" "00006" "KRT6A_000023" "g.52882122C>T" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52488338C>T" "" "pathogenic" "" "0000825262" "0" "90" "12" "52881689" "52881689" "dup" "0" "00006" "KRT6A_000019" "g.52881689dup" "" "{PMID:Wilson 2011:21326300}" "" "1511_1512insG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52487905dup" "" "pathogenic" "" "0000825319" "21" "90" "12" "52886460" "52886460" "subst" "0" "00006" "KRT6A_000012" "g.52886460G>T" "" "{PMID:Smith 1999:10232400}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000825320" "0" "90" "12" "52886452" "52886452" "subst" "0" "00006" "KRT6A_000013" "g.52886452A>G" "" "{PMID:Smith 1999:10232400}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000825321" "21" "90" "12" "52882151" "52882151" "subst" "0" "00006" "KRT6A_000014" "g.52882151A>C" "" "{PMID:Kang 2004:15387942}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000825322" "0" "90" "12" "52882146" "52882146" "subst" "0" "00006" "KRT6A_000015" "g.52882146T>G" "" "{PMID:Garcia-Rio 2005:15840119}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000825323" "0" "90" "12" "52882133" "52882133" "subst" "0" "00006" "KRT6A_000016" "g.52882133A>T" "" "{PMID:Zhou 2007:17309457}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000825328" "20" "90" "12" "52882143" "52882143" "subst" "0" "00006" "KRT6A_000017" "g.52882143A>G" "" "{PMID:Bai 2008:18489596}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000825329" "0" "90" "12" "52886462" "52886462" "subst" "0" "00006" "KRT6A_000018" "g.52886462T>C" "" "{PMID:Bai 2008:18489596}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000825331" "0" "90" "12" "52886482" "52886482" "subst" "0" "00006" "KRT6A_000052" "g.52886482C>G" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline" "" "" "0" "" "" "g.52492698C>G" "" "pathogenic" "" "0000825332" "0" "90" "12" "52886462" "52886462" "subst" "0" "00006" "KRT6A_000018" "g.52886462T>C" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492678T>C" "" "pathogenic" "" "0000825333" "0" "90" "12" "52886462" "52886462" "subst" "0" "00006" "KRT6A_000047" "g.52886462T>A" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492678T>A" "" "pathogenic" "" "0000825334" "0" "90" "12" "52886462" "52886462" "subst" "0" "00006" "KRT6A_000047" "g.52886462T>A" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492678T>A" "" "pathogenic" "" "0000825335" "0" "90" "12" "52886452" "52886452" "subst" "0" "00006" "KRT6A_000042" "g.52886452A>C" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492668A>C" "" "pathogenic" "" "0000825336" "0" "90" "12" "52886461" "52886461" "subst" "0" "00006" "KRT6A_000045" "g.52886461T>C" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677T>C" "" "pathogenic" "" "0000825337" "0" "90" "12" "52886461" "52886461" "subst" "0" "00006" "KRT6A_000045" "g.52886461T>C" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677T>C" "" "pathogenic" "" "0000825338" "0" "90" "12" "52886461" "52886461" "subst" "0" "00006" "KRT6A_000045" "g.52886461T>C" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline" "" "" "0" "" "" "g.52492677T>C" "" "pathogenic" "" "0000825339" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Liao 2007:17719747}" "" "c.514_516delAAC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825340" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Liao 2007:17719747}" "" "c.514_516delAAC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825341" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Liao 2007:17719747}" "" "c.514_516delAAC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825342" "0" "90" "12" "52882130" "52882130" "subst" "0" "00006" "KRT6A_000025" "g.52882130A>C" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline" "" "" "0" "" "" "g.52488346A>C" "" "pathogenic" "" "0000825343" "0" "90" "12" "52882130" "52882130" "subst" "0" "00006" "KRT6A_000026" "g.52882130A>G" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline" "" "" "0" "" "" "g.52488346A>G" "" "pathogenic" "" "0000825344" "0" "90" "12" "52882122" "52882122" "subst" "0" "00006" "KRT6A_000023" "g.52882122C>T" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52488338C>T" "" "pathogenic" "" "0000825345" "0" "90" "12" "52882122" "52882122" "subst" "0" "00006" "KRT6A_000023" "g.52882122C>T" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline" "" "" "0" "" "" "g.52488338C>T" "" "pathogenic" "" "0000825353" "0" "90" "12" "52886460" "52886460" "subst" "0" "00006" "KRT6A_000012" "g.52886460G>T" "" "{PMID:Lv 2009:19416275}" "" "Asn171Lys" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492676G>T" "" "pathogenic" "" "0000825354" "0" "90" "12" "52886452" "52886452" "subst" "0" "00006" "KRT6A_000013" "g.52886452A>G" "" "{PMID:Lv 2009:19416275}" "" "Phe174Ser" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492668A>G" "" "pathogenic" "" "0000825355" "0" "90" "12" "52886452" "52886452" "subst" "0" "00006" "KRT6A_000013" "g.52886452A>G" "" "{PMID:Lv 2009:19416275}" "" "Phe174Ser" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492668A>G" "" "pathogenic" "" "0000825356" "0" "90" "12" "52886461" "52886463" "del" "0" "00006" "KRT6A_000010" "g.52886461_52886463del" "" "{PMID:Lv 2009:19416275}" "" "Asn172del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52492677_52492679del" "" "pathogenic" "" "0000825357" "0" "90" "12" "52886476" "52886476" "subst" "0" "00006" "KRT6A_000051" "g.52886476T>G" "" "{PMID:Lv 2009:19416275}" "" "Gln166Pro" "" "Germline" "" "" "0" "" "" "g.52492692T>G" "" "pathogenic" "" "0000825358" "0" "90" "12" "52886440" "52886440" "subst" "0" "00006" "KRT6A_000040" "g.52886440A>T" "" "{PMID:Lv 2009:19416275}" "" "Ile178Asn" "" "Germline" "" "" "0" "" "" "g.52492656A>T" "" "pathogenic" "" "0000825359" "0" "90" "12" "52882149" "52882149" "subst" "0" "00006" "KRT6A_000030" "g.52882149C>G" "" "{PMID:Lv 2009:19416275}" "" "Ala463Pro" "" "Germline" "" "" "0" "" "" "g.52488365C>G" "" "pathogenic" "" "0000825360" "0" "90" "12" "52882143" "52882143" "subst" "0" "00006" "KRT6A_000017" "g.52882143A>G" "" "{PMID:Lv 2009:19416275}" "" "Tyr465His" "" "Germline" "" "" "0" "" "" "g.52488359A>G" "" "pathogenic" "" "0000863049" "0" "50" "12" "52883773" "52883773" "subst" "0.000203067" "02325" "KRT6A_000054" "g.52883773C>T" "" "" "" "KRT6A(NM_005554.4):c.1157G>A (p.R386H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930113" "0" "30" "12" "52885366" "52885366" "subst" "0.00028018" "02325" "KRT6A_000055" "g.52885366C>T" "" "" "" "KRT6A(NM_005554.4):c.695G>A (p.R232Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949989" "0" "90" "12" "52886461" "52886461" "subst" "0" "02325" "KRT6A_000045" "g.52886461T>C" "" "" "" "KRT6A(NM_005554.4):c.512A>G (p.N171S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026206" "0" "70" "12" "52886440" "52886440" "subst" "0" "02329" "KRT6A_000040" "g.52886440A>T" "" "" "" "KRT6A(NM_005554.4):c.533T>A (p.I178N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001039331" "0" "50" "12" "52884916" "52884916" "subst" "4.06593E-6" "02327" "KRT6A_000056" "g.52884916C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes KRT6A ## Count = 149 "{{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}}" "0000248661" "00010763" "10" "483" "0" "483" "0" "c.483T>C" "r.(?)" "p.(Ala161=)" "" "0000281905" "00010763" "30" "1477" "0" "1477" "0" "c.1477G>A" "r.(?)" "p.(Val493Ile)" "" "0000281906" "00010763" "30" "1567" "0" "1567" "0" "c.1567G>A" "r.(?)" "p.(Val523Ile)" "" "0000281907" "00010763" "10" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Gly111Asp)" "" "0000281908" "00010763" "10" "495" "0" "495" "0" "c.495A>G" "r.(?)" "p.(Glu165=)" "" "0000281909" "00010763" "30" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Val229=)" "" "0000290570" "00010763" "10" "460" "0" "460" "0" "c.460C>G" "r.(?)" "p.(Pro154Ala)" "" "0000679584" "00010763" "50" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Arg415His)" "" "0000691375" "00010763" "50" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Gly88Arg)" "" "0000825080" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825081" "00010763" "90" "520" "0" "520" "0" "c.520T>G" "r.(?)" "p.(Phe174Val)" "" "0000825082" "00010763" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825083" "00010763" "90" "1406" "0" "1406" "0" "c.1406T>G" "r.(?)" "p.(Leu469Arg)" "" "0000825084" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825085" "00010763" "90" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Phe174Ser)" "" "0000825086" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825087" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825094" "00010763" "90" "500" "0" "500" "0" "c.500T>A" "r.(?)" "p.(Ile167Asn)" "" "0000825095" "00010763" "90" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Leu170Phe)" "" "0000825096" "00010763" "90" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(Asn171Ser)" "" "0000825097" "00010763" "90" "526" "0" "526" "0" "c.526T>C" "r.(?)" "p.(Ser176Pro)" "" "0000825098" "00010763" "90" "1385" "0" "1385" "0" "c.1385T>A" "r.(?)" "p.(Ile462Asn)" "" "0000825099" "00010763" "90" "1403" "0" "1403" "0" "c.1403T>C" "r.(?)" "p.(Leu468Pro)" "" "0000825100" "00010763" "90" "1406" "0" "1406" "0" "c.1406T>C" "r.(?)" "p.(Leu469Pro)" "" "0000825101" "00010763" "90" "1411" "0" "1412" "0" "c.1411_1412ins(117)" "r.(?)" "p.(Glu470_Gly471ins39" "" "0000825105" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825106" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825107" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825108" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825109" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825110" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825111" "00010763" "90" "513" "0" "513" "0" "c.513C>A" "r.(?)" "p.(Asn171Lys)" "" "0000825112" "00010763" "90" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Phe174Ser)" "" "0000825113" "00010763" "90" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Phe174Ser)" "" "0000825124" "00010763" "90" "1460" "-2" "1460" "-2" "c.1460-2A>C" "r.1460_1470del" "p.Ser487Phefs*73" "8i" "0000825125" "00010763" "90" "1460" "-2" "1460" "-2" "c.1460-2A>C" "r.1460_1470del" "p.Ser487Phefs*73" "8i" "0000825130" "00010763" "90" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Glu163Lys)" "" "0000825131" "00010763" "90" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Leu170Phe)" "" "0000825132" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825133" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825134" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825135" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825136" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825137" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825138" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825139" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825140" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825141" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825142" "00010763" "90" "520" "0" "520" "0" "c.520T>A" "r.(?)" "p.(Phe174Ile)" "" "0000825143" "00010763" "90" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Phe174Ser)" "" "0000825144" "00010763" "90" "533" "0" "533" "0" "c.533T>A" "r.(?)" "p.(Ile178Asn)" "" "0000825145" "00010763" "90" "541" "-1" "541" "-1" "c.541-1G>C" "r.spl" "p.?" "" "0000825146" "00010763" "90" "541" "-2" "541" "-2" "c.541-2A>G" "r.spl" "p.(Val181_Gln186del)" "" "0000825147" "00010763" "90" "541" "-2" "541" "-2" "c.541-2A>G" "r.spl" "p.(Val181_Gln186del)" "" "0000825148" "00010763" "90" "541" "-2" "541" "-2" "c.541-2A>G" "r.spl" "p.(Val181_Gln186del)" "" "0000825149" "00010763" "90" "541" "-2" "541" "-2" "c.541-2A>C" "r.spl" "p.?" "" "0000825150" "00010763" "90" "1381" "0" "1381" "0" "c.1381G>T" "r.(?)" "p.(Glu461Ter)" "" "0000825151" "00010763" "90" "1385" "0" "1385" "0" "c.1385T>A" "r.(?)" "p.(Ile462Asn)" "" "0000825152" "00010763" "90" "1387" "0" "1387" "0" "c.1387G>C" "r.(?)" "p.(Ala463Pro)" "" "0000825153" "00010763" "90" "1390" "0" "1390" "0" "c.1390A>C" "r.(?)" "p.(Thr464Pro)" "" "0000825154" "00010763" "90" "1403" "0" "1403" "0" "c.1403T>C" "r.(?)" "p.(Leu468Pro)" "" "0000825155" "00010763" "90" "1406" "0" "1406" "0" "c.1406T>C" "r.(?)" "p.(Leu469Pro)" "" "0000825156" "00010763" "90" "1406" "0" "1406" "0" "c.1406T>C" "r.(?)" "p.(Leu469Pro)" "" "0000825157" "00010763" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825158" "00010763" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825159" "00010763" "90" "1417" "0" "1417" "0" "c.1417dup" "r.(?)" "p.(Glu473GlyfsTer91)" "" "0000825160" "00010763" "90" "1460" "-1" "1460" "-1" "c.1460-1G>C" "r.spl" "p.?" "" "0000825216" "00010763" "90" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Glu163Lys)" "" "0000825217" "00010763" "90" "500" "0" "500" "0" "c.500T>G" "r.(?)" "p.(Ile167Ser)" "" "0000825218" "00010763" "90" "513" "0" "513" "0" "c.513C>A" "r.(?)" "p.(Asn171Lys)" "" "0000825219" "00010763" "90" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(Asn171Ser)" "" "0000825220" "00010763" "90" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(Asn171Ser)" "" "0000825221" "00010763" "90" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(Asn171Ser)" "" "0000825222" "00010763" "90" "512" "0" "512" "0" "c.512A>C" "r.(?)" "p.(Asn171Thr)" "" "0000825223" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825224" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825225" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825226" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825227" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825228" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825229" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825230" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825231" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825232" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825233" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825234" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825235" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825236" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825237" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825238" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825239" "00010763" "90" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Phe174Ser)" "" "0000825240" "00010763" "90" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Phe174Ser)" "" "0000825241" "00010763" "90" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Phe174Ser)" "" "0000825242" "00010763" "90" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Phe174Ser)" "" "0000825243" "00010763" "90" "541" "-1" "541" "-1" "c.541-1G>C" "r.spl" "p.?" "" "0000825244" "00010763" "90" "541" "-1" "541" "-1" "c.541-1G>C" "r.spl" "p.?" "" "0000825245" "00010763" "90" "541" "-1" "541" "-1" "c.541-1G>T" "r.spl" "p.?" "" "0000825246" "00010763" "90" "541" "-2" "541" "-2" "c.541-2A>C" "r.spl" "p.?" "" "0000825247" "00010763" "90" "541" "-2" "541" "-2" "c.541-2A>G" "r.spl" "p.?" "" "0000825248" "00010763" "90" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Gln435Ter)" "" "0000825249" "00010763" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Glu461Lys)" "" "0000825250" "00010763" "90" "1381" "0" "1381" "0" "c.1381G>C" "r.(?)" "p.(Glu461Gln)" "" "0000825251" "00010763" "90" "1394" "0" "1394" "0" "c.1394A>G" "r.(?)" "p.(Tyr465Cys)" "" "0000825252" "00010763" "90" "1394" "0" "1396" "0" "c.1394_1396dup" "r.(?)" "p.(Tyr465_Arg466insHis)" "" "0000825253" "00010763" "90" "1393" "0" "1393" "0" "c.1393T>C" "r.(?)" "p.(Tyr465His)" "" "0000825254" "00010763" "90" "1403" "0" "1403" "0" "c.1403T>C" "r.(?)" "p.(Leu468Pro)" "" "0000825255" "00010763" "90" "1403" "0" "1403" "0" "c.1403T>C" "r.(?)" "p.(Leu468Pro)" "" "0000825256" "00010763" "90" "1403" "0" "1403" "0" "c.1403T>C" "r.(?)" "p.(Leu468Pro)" "" "0000825257" "00010763" "90" "1406" "0" "1406" "0" "c.1406T>C" "r.(?)" "p.(Leu469Pro)" "" "0000825258" "00010763" "90" "1406" "0" "1406" "0" "c.1406T>G" "r.(?)" "p.(Leu469Arg)" "" "0000825259" "00010763" "90" "1416" "0" "1416" "0" "c.1416G>C" "r.(?)" "p.(Glu472Asp)" "" "0000825260" "00010763" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825261" "00010763" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825262" "00010763" "90" "1511" "0" "1511" "0" "c.1511dup" "r.(?)" "p.(Ser505GlnfsTer59)" "" "0000825319" "00010763" "90" "513" "0" "513" "0" "c.513C>A" "r.513c>a" "p.Asn171Lys" "" "0000825320" "00010763" "90" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Phe174Ser)" "" "0000825321" "00010763" "90" "1385" "0" "1385" "0" "c.1385T>G" "r.(?)" "p.(Ile462Ser)" "" "0000825322" "00010763" "90" "1390" "0" "1390" "0" "c.1390A>C" "r.(?)" "p.(Thr464Pro)" "" "0000825323" "00010763" "90" "1403" "0" "1403" "0" "c.1403T>A" "r.(?)" "p.(Leu468Gln)" "" "0000825328" "00010763" "90" "1393" "0" "1393" "0" "c.1393T>C" "r.(?)" "p.(Tyr465His)" "" "0000825329" "00010763" "90" "511" "0" "511" "0" "c.511A>G" "r.(?)" "p.(Asn171Asp)" "" "0000825331" "00010763" "90" "491" "0" "491" "0" "c.491G>C" "r.(?)" "p.(Arg164Pro)" "" "0000825332" "00010763" "90" "511" "0" "511" "0" "c.511A>G" "r.(?)" "p.(Asn171Asp)" "" "0000825333" "00010763" "90" "511" "0" "511" "0" "c.511A>T" "r.(?)" "p.(Asn171Tyr)" "" "0000825334" "00010763" "90" "511" "0" "511" "0" "c.511A>T" "r.(?)" "p.(Asn171Tyr)" "" "0000825335" "00010763" "90" "521" "0" "521" "0" "c.521T>G" "r.(?)" "p.(Phe174Cys)" "" "0000825336" "00010763" "90" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(Asn171Ser)" "" "0000825337" "00010763" "90" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(Asn171Ser)" "" "0000825338" "00010763" "90" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(Asn171Ser)" "" "0000825339" "00010763" "90" "514" "0" "516" "0" "c.514_516del" "r.(?)" "p.(Asn172del)" "" "0000825340" "00010763" "90" "514" "0" "516" "0" "c.514_516del" "r.(?)" "p.(Asn172del)" "" "0000825341" "00010763" "90" "514" "0" "516" "0" "c.514_516del" "r.(?)" "p.(Asn172del)" "" "0000825342" "00010763" "90" "1406" "0" "1406" "0" "c.1406T>G" "r.(?)" "p.(Leu469Arg)" "" "0000825343" "00010763" "90" "1406" "0" "1406" "0" "c.1406T>C" "r.(?)" "p.(Leu469Pro)" "" "0000825344" "00010763" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825345" "00010763" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825353" "00010763" "90" "513" "0" "513" "0" "c.513C>A" "r.(?)" "p.(Asn171Lys)" "" "0000825354" "00010763" "90" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Phe174Ser)" "" "0000825355" "00010763" "90" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Phe174Ser)" "" "0000825356" "00010763" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825357" "00010763" "90" "497" "0" "497" "0" "c.497A>C" "r.(?)" "p.(Gln166Pro)" "" "0000825358" "00010763" "90" "533" "0" "533" "0" "c.533T>A" "r.(?)" "p.(Ile178Asn)" "" "0000825359" "00010763" "90" "1387" "0" "1387" "0" "c.1387G>C" "r.(?)" "p.(Ala463Pro)" "" "0000825360" "00010763" "90" "1393" "0" "1393" "0" "c.1393T>C" "r.(?)" "p.(Tyr465His)" "" "0000863049" "00010763" "50" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386His)" "" "0000930113" "00010763" "30" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232Gln)" "" "0000949989" "00010763" "90" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(Asn171Ser)" "" "0001026206" "00010763" "70" "533" "0" "533" "0" "c.533T>A" "r.(?)" "p.(Ile178Asn)" "" "0001039331" "00010763" "50" "796" "0" "796" "0" "c.796G>C" "r.(?)" "p.(Glu266Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 135 "{{screeningid}}" "{{variantid}}" "0000394168" "0000825080" "0000394169" "0000825081" "0000394170" "0000825082" "0000394171" "0000825083" "0000394172" "0000825084" "0000394173" "0000825085" "0000394174" "0000825086" "0000394175" "0000825087" "0000394182" "0000825094" "0000394183" "0000825095" "0000394184" "0000825096" "0000394185" "0000825097" "0000394186" "0000825098" "0000394187" "0000825099" "0000394188" "0000825100" "0000394189" "0000825101" "0000394193" "0000825105" "0000394194" "0000825106" "0000394195" "0000825107" "0000394196" "0000825108" "0000394197" "0000825109" "0000394198" "0000825110" "0000394199" "0000825111" "0000394200" "0000825112" "0000394201" "0000825113" "0000394212" "0000825124" "0000394213" "0000825125" "0000394217" "0000825130" "0000394218" "0000825131" "0000394219" "0000825132" "0000394220" "0000825133" "0000394221" "0000825134" "0000394222" "0000825135" "0000394223" "0000825136" "0000394224" "0000825137" "0000394225" "0000825138" "0000394226" "0000825139" "0000394227" "0000825140" "0000394228" "0000825141" "0000394229" "0000825142" "0000394230" "0000825143" "0000394231" "0000825144" "0000394232" "0000825145" "0000394233" "0000825146" "0000394234" "0000825147" "0000394235" "0000825148" "0000394236" "0000825149" "0000394237" "0000825150" "0000394238" "0000825151" "0000394239" "0000825152" "0000394240" "0000825153" "0000394241" "0000825154" "0000394242" "0000825155" "0000394243" "0000825156" "0000394244" "0000825157" "0000394245" "0000825158" "0000394246" "0000825159" "0000394247" "0000825160" "0000394302" "0000825216" "0000394303" "0000825217" "0000394304" "0000825218" "0000394305" "0000825219" "0000394306" "0000825220" "0000394307" "0000825221" "0000394308" "0000825222" "0000394309" "0000825223" "0000394310" "0000825224" "0000394311" "0000825225" "0000394312" "0000825226" "0000394313" "0000825227" "0000394314" "0000825228" "0000394315" "0000825229" "0000394316" "0000825230" "0000394317" "0000825231" "0000394318" "0000825232" "0000394319" "0000825233" "0000394320" "0000825234" "0000394321" "0000825235" "0000394322" "0000825236" "0000394323" "0000825237" "0000394324" "0000825238" "0000394325" "0000825239" "0000394326" "0000825240" "0000394327" "0000825241" "0000394328" "0000825242" "0000394329" "0000825243" "0000394330" "0000825244" "0000394331" "0000825245" "0000394332" "0000825246" "0000394333" "0000825247" "0000394334" "0000825248" "0000394335" "0000825249" "0000394336" "0000825250" "0000394337" "0000825251" "0000394338" "0000825252" "0000394339" "0000825253" "0000394340" "0000825254" "0000394341" "0000825255" "0000394342" "0000825256" "0000394343" "0000825257" "0000394344" "0000825258" "0000394345" "0000825259" "0000394346" "0000825260" "0000394347" "0000825261" "0000394348" "0000825262" "0000394404" "0000825319" "0000394405" "0000825320" "0000394406" "0000825321" "0000394407" "0000825322" "0000394408" "0000825323" "0000394413" "0000825328" "0000394414" "0000825329" "0000394416" "0000825331" "0000394417" "0000825332" "0000394418" "0000825333" "0000394419" "0000825334" "0000394420" "0000825335" "0000394421" "0000825336" "0000394422" "0000825337" "0000394423" "0000825338" "0000394424" "0000825339" "0000394425" "0000825340" "0000394426" "0000825341" "0000394427" "0000825342" "0000394428" "0000825343" "0000394429" "0000825344" "0000394430" "0000825345" "0000394438" "0000825353" "0000394439" "0000825354" "0000394440" "0000825355" "0000394441" "0000825356" "0000394442" "0000825357" "0000394443" "0000825358" "0000394444" "0000825359" "0000394445" "0000825360"