### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTCH1) # 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}}" "PTCH1" "patched 1" "9" "q22.1-q31" "unknown" "NG_007664.1" "UD_132085405680" "" "http://www.LOVD.nl/PTCH1" "" "1" "9585" "5727" "601309" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PTCH1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00125" "2016-12-10 11:20:20" "00000" "2025-11-01 13:22:20" ## 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}}" "00017082" "PTCH1" "transcript variant 1b" "003" "NM_000264.3" "" "NP_000255.2" "" "" "" "-188" "7755" "4344" "98270831" "98205264" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00010" "MCLMR" "microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)" "AD" "152950" "" "" "" "00006" "2012-06-29 16:51:23" "00006" "2020-02-10 09:10:25" "00103" "MRLIAF" "mental retardation, language impairment, autistic features (MRLIAF)" "AD" "613670" "" "" "" "00008" "2013-01-16 09:42:45" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "00402" "OCCO" "coloboma, ocular (OCCO)" "" "" "" "" "" "00006" "2014-06-06 10:27:02" "00006" "2015-12-07 07:11:25" "00438" "HPE" "holoprosencephaly (HPE)" "" "236100" "" "" "" "00662" "2014-06-30 10:33:45" "00006" "2015-12-04 07:41:19" "01191" "BCNS" "basal cell nevus syndrome (BCNS, Gorlin-Goltz syndrome)" "AD" "109400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01192" "AOVD1" "aortic valve disease, type 1 (AOVD-1)" "AD" "109730" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01429" "MDB" "medulloblastoma (MDB)" "AD;AR;SMu" "155255" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-10-31 14:18:45" "01901" "MGCPH" "macrocephaly/megalencephaly syndrome, autosomal recessive (MGCPH)" "AR" "248000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02280" "HDCA" "heart disease, congenital, and other congenital anomalies (HDCA)" "AD" "600001" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02551" "BCC1" "carcinoma, basal cell, susceptibility to, type 1 (BCC-1)" "" "605462" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02985" "HPE7" "holoprosencephaly, type 7 (HPE-7)" "AD" "610828" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05150" "KCOT" "tumor, keratocystic odontogenic (KCOT)" "" "" "" "" "" "00006" "2016-04-14 15:31:54" "" "" "05154" "cancer, skin" "cancer, skin" "" "" "" "" "" "00006" "2016-04-14 15:55:23" "" "" "05155" "OPLL" "ossification, posterior longitudinal ligament spine (OPLL)" "" "" "" "" "" "00006" "2016-04-14 16:02:41" "" "" "05209" "ODA" "Ocular developmental anomalies" "" "" "eyes" "Anophthalmia/microphthalmia, anterior segment mesenchymal dysgenesis" "" "00125" "2016-12-10 11:18:31" "" "" "05333" "RMSE" "rhabdomyosarcoma, embryonal (RMSE)" "" "" "" "" "" "00006" "2017-10-07 23:40:08" "" "" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "07009" "HYC" "hydrocephalus" "" "" "" "" "" "00006" "2023-04-07 10:57:22" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "PTCH1" "01191" "PTCH1" "02551" "PTCH1" "02985" "PTCH1" "05150" "PTCH1" "05209" ## Individuals ## Do not remove or alter this header ## ## Count = 520 "{{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}}" "00036599" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036603" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036607" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036608" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036613" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036614" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036615" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036616" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00056272" "" "" "" "2" "" "00006" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}" "affected girl and clincally unaffected carrier father" "F" "" "United States" "" "0" "" "" "" "" "00056273" "" "" "00056275" "1" "" "00006" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}" "clinically unaffected father Pat83" "M" "" "United States" "" "0" "" "" "" "" "00056274" "" "" "00056275" "1" "" "00006" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}" "brother Pat83" "M" "" "United States" "" "0" "" "" "" "" "00056275" "" "" "" "3" "" "00006" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}" "2-generation family, 2 affected bothers, clinically unaffected carrier father, healthy non-carreir mother/sister" "M" "" "United States" "" "0" "" "" "" "" "00056276" "" "" "00056272" "1" "" "00006" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}" "clinically healthy carrier father Pat180" "M" "" "United States" "" "0" "" "" "" "" "00056311" "" "" "" "2" "" "00006" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}" "2-generation family, affected sister and brother (mother not carrier, father untested)" "F" "" "United States" "" "0" "" "" "" "" "00056312" "" "" "00056311" "1" "" "00006" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}" "bother Pat1335" "M" "" "United States" "" "0" "" "" "" "" "00056313" "" "" "" "1" "" "00006" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}" "2-generation family, affected girl, normal mother (no carrier), father untested" "F" "" "United States" "" "0" "" "" "" "" "00056314" "" "" "00056315" "1" "" "00006" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}" "clincally unaffected carrier mother 775" "F" "" "United States" "" "0" "" "" "" "" "00056315" "" "" "" "2" "" "00006" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}" "2-generation family, affected girl and clincally unaffected carrier mother" "F" "" "United States" "" "0" "" "" "" "" "00063298" "" "" "" "1" "" "00125" "{PMID:Guo 2013:24204797}" "" "" "" "" "" "0" "" "" "" "" "00063299" "" "" "" "1" "" "00125" "{PMID:Savino 2004:15459969}" "" "" "" "" "" "0" "" "" "" "" "00063300" "" "" "" "1" "" "00125" "{PMID:Minami 2001:11457640}" "case 2" "F" "" "Japan" "" "0" "" "" "" "" "00063301" "" "" "" "1" "" "00125" "{PMID:Savino 2004:15459969}" "" "" "" "" "" "0" "" "" "" "" "00063302" "" "" "" "1" "" "00125" "{PMID:Li 2008:18302678}" "" "" "" "" "" "0" "" "" "" "" "00063303" "" "" "" "1" "" "00125" "{PMID:Tanioka 2005:15565302}" "" "" "" "" "" "0" "" "" "" "" "00063304" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063305" "" "" "" "1" "" "00125" "{PMID:Soufir 2006:16909134}" "" "" "" "" "" "0" "" "" "" "" "00063306" "" "" "" "1" "" "00125" "{PMID:Suzuki 2012:22572734}" "" "" "" "" "" "0" "" "" "" "" "00063307" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943},{PMID:Wicking 1997:9415689}" "Sporadic patient JHG547" "" "" "" "" "0" "" "" "" "" "00063308" "" "" "" "1" "" "00125" "{PMID:Marsh 2005:16088933}" "" "" "" "" "" "0" "" "" "" "" "00063309" "" "" "" "1" "" "00125" "{PMID:Endo 2009:19618880}" "" "" "" "" "" "0" "" "" "" "" "00063310" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063311" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063312" "" "" "" "1" "" "00125" "{PMID:Savino 2004:15459969}" "" "" "" "" "" "0" "" "" "" "" "00063313" "" "" "" "1" "" "00125" "{PMID:Zhang 2011:21514272}" "" "" "" "" "" "0" "" "" "" "" "00063314" "" "" "" "1" "" "00125" "{PMID:Shevchenko 2000:10649784}" "" "" "" "" "" "0" "" "" "" "" "00063315" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063316" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063317" "" "" "" "1" "" "00125" "{PMID:Matsuzawa 2006:17021131}" "" "" "" "" "" "0" "" "" "" "" "00063318" "" "" "" "1" "" "00125" "{PMID:Sun 2008:18502968}" "" "" "" "" "" "0" "" "" "" "" "00063319" "" "" "" "1" "" "00125" "{PMID:Guo 2013:24204797}" "" "" "" "" "" "0" "" "" "" "" "00063320" "" "" "" "1" "" "00125" "{PMID:Mansilla 2006:16405370}" "" "" "" "" "" "0" "" "" "" "" "00063321" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063322" "" "" "" "1" "" "00125" "{PMID:Kool 2014:24651015}" "" "" "" "" "" "0" "" "" "" "" "00063323" "" "" "" "1" "" "00125" "{PMID:Romano 2011:21188685}" "" "" "" "" "" "0" "" "" "" "" "00063324" "" "" "" "5" "" "00125" "{PMID:Hahn 1996:8681379}" "Pedigree 2587, 7 family members, 5 affected" "" "" "" "" "0" "" "" "" "" "00063325" "" "" "" "3" "" "00125" "{PMID:Alonso-Gonzalez 2012:22007994}" "" "M" "" "Spain" "" "0" "" "" "" "" "00063326" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063327" "" "" "" "1" "" "00125" "{PMID:Pastorino 2005:15712338}" "" "" "" "" "" "0" "" "" "" "" "00063328" "" "" "" "1" "" "00125" "{PMID:Skodric-Trifunovic 2015:25727044}" "" "" "" "" "" "0" "" "" "" "" "00063329" "" "" "" "1" "" "00125" "{PMID:Scott 2007:17258529}" "" "" "" "" "" "0" "" "" "" "" "00063330" "" "" "" "1" "" "00125" "{PMID:Hahn 1996:8681379}" "" "" "" "" "" "0" "" "" "" "" "00063331" "" "" "" "1" "" "00125" "{PMID:Ogata 2001:11531849}" "" "" "" "" "" "0" "" "" "" "" "00063332" "" "" "" "1" "" "00125" "{PMID:Ming 2002:11941477}" "" "" "" "" "" "0" "" "" "" "" "00063333" "" "" "" "1" "" "00125" "{PMID:Takahashi 2009:19557015}" "" "" "" "" "" "0" "" "" "" "" "00063334" "" "" "" "1" "" "00125" "{PMID:Pruvost-Balland 2006:16508594}" "" "" "" "" "" "0" "" "" "" "" "00063335" "" "" "" "1" "" "00125" "{PMID:Pastorino 2012:15712338}" "" "" "" "" "" "0" "" "" "" "" "00063336" "" "" "" "1" "" "00125" "{PMID:Wei 2014:24668667}" "" "" "" "" "" "0" "" "" "" "" "00063337" "" "" "" "1" "" "00125" "{PMID:Nakamura 2009:19213655}" "" "" "" "" "" "0" "" "" "" "" "00063338" "" "" "" "1" "" "00125" "{PMID:Ribeiro 2006:17001668}" "" "" "" "" "" "0" "" "" "" "" "00063339" "" "" "" "1" "" "00125" "Kitano 2013 J Oral Maxillofac Surg Med Pathol" "" "" "" "" "" "0" "" "" "" "" "00063340" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Sporadic patient TM" "" "" "" "" "0" "" "" "" "" "00063341" "" "" "" "1" "" "00125" "{PMID:Matsuzawa 2006:17021131}" "" "" "" "" "" "0" "" "" "" "" "00063342" "" "" "" "1" "" "00125" "{PMID:Pastorino 2005:15712338}" "" "" "" "" "" "0" "" "" "" "" "00063343" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063344" "" "" "" "1" "" "00125" "{PMID:Matsuzawa 2006:17021131}" "" "" "" "" "" "0" "" "" "" "" "00063345" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063346" "" "" "" "2" "" "00125" "{PMID:Chidambaram 1996:8840969}" "NBCCS5" "M" "" "" "" "0" "" "" "African-American" "" "00063347" "" "" "" "1" "" "00125" "{PMID:Fujii 2003:12655573}" "" "" "" "" "" "0" "" "" "" "" "00063348" "" "" "" "3" "" "00125" "{PMID:Chidambaram 1996:8840969}" "NBCCS6" "" "" "" "" "0" "" "" "white" "" "00063349" "" "" "" "1" "" "00125" "{PMID:Guo 2013:24204797}" "" "" "" "" "" "0" "" "" "" "" "00063350" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Sporadic patient PP" "" "" "" "" "0" "" "" "" "" "00063351" "" "" "" "3" "" "00125" "{PMID:Hasenpusch-Theil 1997:10200051}" "Patient C2" "F" "" "" "" "0" "" "" "" "" "00063352" "" "" "" "1" "" "00125" "{PMID:Tanioka 2005:15565302}" "" "" "" "" "" "0" "" "" "" "" "00063353" "" "" "" "1" "" "00125" "{PMID:Gururangan 2015:25940061}" "" "" "" "" "" "0" "" "" "" "" "00063354" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063355" "" "" "" "1" "" "00125" "{PMID:Crawford 2009:19414732}" "" "" "" "" "" "0" "" "" "" "" "00063356" "" "" "" "1" "" "00125" "{PMID:Wilson 2006:16906569}" "" "" "" "" "" "0" "" "" "" "" "00063357" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063358" "" "" "" "1" "" "00125" "{PMID:Li 2008:18302678}" "" "" "" "" "" "0" "" "" "" "" "00063359" "" "" "" "1" "" "00125" "{PMID:Hasenpusch-Theil 1997:10200051}" "Patient T1" "M" "" "" "" "0" "" "" "" "" "00063360" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943},{PMID:Wicking 1997:9415689}" "Sporadic patient DD25" "" "" "" "" "0" "" "" "" "" "00063361" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Sporadic patient BH" "" "" "" "" "0" "" "" "" "" "00063362" "" "" "" "1" "" "00125" "{PMID:Marsh 2005:16088933}" "" "" "" "" "" "0" "" "" "" "" "00063363" "" "" "" "1" "" "00125" "{PMID:Ming 2002:11941477}" "" "" "" "" "" "0" "" "" "" "" "00063364" "" "" "" "1" "" "00125" "{PMID:Ponti 2012:22559979}" "" "" "" "" "" "0" "" "" "" "" "00063365" "" "" "" "1" "" "00125" "{PMID:Ribeiro 2006:17001668}" "" "" "" "" "" "0" "" "" "" "" "00063366" "" "" "" "1" "" "00125" "{PMID:Soufir 2006:16909134}" "" "" "" "" "" "0" "" "" "" "" "00063367" "" "" "" "1" "" "00125" "{PMID:Kansal 2007:17349603}" "" "" "" "" "" "0" "" "" "" "" "00063368" "" "" "" "1" "" "00125" "{PMID:Roudgari 2012:21651513}" "" "" "" "" "" "0" "" "" "" "" "00063369" "" "" "" "1" "" "00125" "{PMID:Endo 2009:19618880}" "" "" "" "" "" "0" "" "" "" "" "00063370" "" "" "" "1" "" "00125" "{PMID:Soufir 2006:16909134}" "" "" "" "" "" "0" "" "" "" "" "00063371" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063372" "" "" "" "1" "" "00125" "{PMID:Ming 2002:11941477}" "" "" "" "" "" "0" "" "" "" "" "00063373" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063374" "" "" "" "1" "" "00125" "{PMID:Soufir 2006:16909134}" "" "" "" "" "" "0" "" "" "" "" "00063375" "" "" "" "1" "" "00125" "{PMID:Ribeiro 2006:17001668}" "" "" "" "" "" "0" "" "" "" "" "00063376" "" "" "" "1" "" "00125" "{PMID:Barreto 2000:10890722}" "" "M" "" "" "" "0" "" "" "" "" "00063377" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063378" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063379" "" "" "" "1" "" "00125" "{PMID:Hasenpusch-Theil 1997:10200051}" "Patient L2" "" "" "" "" "0" "" "" "" "" "00063380" "" "" "" "1" "" "00125" "{PMID:Santos 2011:21699520}" "" "" "" "" "" "0" "" "" "" "" "00063381" "" "" "" "1" "" "00125" "{PMID:Tanioka 2005:15565302}" "" "" "" "" "" "0" "" "" "" "" "00063382" "" "" "" "1" "" "00125" "{PMID:Zaidi 2013:23665959}" "" "" "" "" "" "0" "" "" "" "" "00063383" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Family PB" "" "" "" "" "0" "" "" "" "" "00063384" "" "" "" "1" "" "00125" "{PMID:Soufir 2006:16909134}" "" "" "" "" "" "0" "" "" "" "" "00063385" "" "" "" "1" "" "00125" "{PMID:Fujii 2011:12655573}" "" "" "" "" "" "0" "" "" "" "" "00063386" "" "" "" "1" "" "00125" "{PMID:Torrelo 2013:23746055}" "" "" "" "" "" "0" "" "" "" "" "00063387" "" "" "" "1" "" "00125" "{PMID:Wang 2009:19008023}" "" "" "" "" "" "0" "" "" "" "" "00063388" "" "" "" "1" "" "00125" "{PMID:Ming 2002:11941477}" "" "" "" "" "" "0" "" "" "" "" "00063389" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063390" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Sporadic patient RS" "" "" "" "" "0" "" "" "" "" "00063391" "" "" "" "1" "" "00125" "{PMID:Smucker 2006:17328283}" "" "" "" "" "" "0" "" "" "" "" "00063392" "" "" "" "1" "" "00125" "{PMID:Song 2006:16675912}" "" "" "" "" "" "0" "" "" "" "" "00063393" "" "" "" "1" "" "00125" "{PMID:Ponti 2013:22559979}" "" "" "" "" "" "0" "" "" "" "" "00063394" "" "" "" "1" "" "00125" "{PMID:Pruvost-Balland 2006:16508594}" "" "" "" "" "" "0" "" "" "" "" "00063395" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063396" "" "" "" "1" "" "00125" "{PMID:Goetze 2015:25600101}" "" "" "" "" "" "0" "" "" "" "" "00063397" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063398" "" "" "" "1" "" "00125" "{PMID:Reifenberger 2001:11231326}" "" "F" "" "" "" "0" "" "" "" "" "00063399" "" "" "" "8" "" "00125" "{PMID:Chidambaram 1996:8840969}" "Pedigree NBCCS11" "" "" "" "" "0" "" "" "white" "" "00063400" "" "" "" "1" "" "00125" "{PMID:Pruvost-Balland 2006:16508594}" "" "" "" "" "" "0" "" "" "" "" "00063401" "" "" "" "1" "" "00125" "{PMID:Sun 2008:18502968}" "" "" "" "" "" "0" "" "" "" "" "00063402" "" "" "" "1" "" "00125" "{PMID:Bonachea 2014:25260786}" "" "" "" "" "" "0" "" "" "" "" "00063403" "" "" "" "1" "" "00125" "{PMID:Barreto 2000:10890722}" "" "M" "" "" "" "0" "" "" "" "" "00063404" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063405" "" "" "" "1" "" "00125" "{PMID:Pruvost-Balland 2006:16508594}" "" "" "" "" "" "0" "" "" "" "" "00063406" "" "" "" "1" "" "00125" "{PMID:Asplund 2005:15888139}" "" "" "" "" "" "0" "" "" "" "" "00063407" "" "" "" "1" "" "00125" "{PMID:Matsuzawa 2006:17021131}" "" "" "" "" "" "0" "" "" "" "" "00063408" "" "" "" "1" "" "00125" "{PMID:Wei 2014:24668667}" "" "" "" "" "" "0" "" "" "" "" "00063409" "" "" "" "1" "" "00125" "{PMID:Lench 1997:9341860}" "30-year-old NBCCS female" "F" "" "" "" "0" "" "" "" "" "00063410" "" "" "" "1" "" "00125" "{PMID:Pastorino 2012:15712338}" "" "" "" "" "" "0" "" "" "" "" "00063411" "" "" "" "1" "" "00125" "{PMID:Nagao 2005:16203740}" "" "" "" "" "" "0" "" "" "" "" "00063412" "" "" "" "1" "" "00125" "{PMID:Guo 2013:24204797}" "" "" "" "" "" "0" "" "" "" "" "00063413" "" "" "" "1" "" "00125" "{PMID:Fujii 2011:12655573}" "" "" "" "" "" "0" "" "" "" "" "00063414" "" "" "" "1" "" "00125" "{PMID:Pastorino 2005:15712338}" "" "" "" "" "" "0" "" "" "" "" "00063415" "" "" "" "1" "" "00125" "{PMID:Pastorino 2012:15712338}" "" "" "" "" "" "0" "" "" "" "" "00063416" "" "" "" "1" "" "00125" "{PMID:Shevchenko 2000:10649784}" "" "" "" "" "" "0" "" "" "" "" "00063417" "" "" "" "1" "" "00125" "{PMID:Savino 2004:15459969}" "" "" "" "" "" "0" "" "" "" "" "00063418" "" "" "" "1" "" "00125" "{PMID:Fujii 2003:12655573}" "" "" "" "" "" "0" "" "" "" "" "00063419" "" "" "" "1" "" "00125" "{PMID:Bholah 2014:24659465}" "" "" "" "" "" "0" "" "" "" "" "00063420" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943},{PMID:Smyth 1998:9654212}" "Family AE, patient DE89" "" "" "" "" "0" "" "" "" "" "00063421" "" "" "" "1" "" "00125" "{PMID:Sasaki 2009:19521425}" "" "" "" "" "" "0" "" "" "" "" "00063422" "" "" "" "1" "" "00125" "{PMID:Pastorino 2012:15712338}" "" "" "" "" "" "0" "" "" "" "" "00063423" "" "" "" "1" "" "00125" "{PMID:Sun 2008:18502968}" "" "" "" "" "" "0" "" "" "" "" "00063424" "" "" "" "1" "" "00125" "{PMID:Sun 2008:18502968}" "" "" "" "" "" "0" "" "" "" "" "00063425" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063426" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063427" "" "" "" "1" "" "00125" "{PMID:Larsen 2014:24814739}" "" "" "" "" "" "0" "" "" "" "" "00063428" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063429" "" "" "" "1" "" "00125" "{PMID:Bholah 2014:24659465}" "" "" "" "" "" "0" "" "" "" "" "00063430" "" "" "" "1" "" "00125" "{PMID:Bholah 2014:24659465}" "" "" "" "" "" "0" "" "" "" "" "00063431" "" "" "" "1" "" "00125" "{PMID:Sun 2008:18502968}" "" "" "" "" "" "0" "" "" "" "" "00063432" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063433" "" "" "" "1" "" "00125" "{PMID:Abe 2008:19002359}" "" "" "" "" "" "0" "" "" "" "" "00063434" "" "" "" "1" "" "00125" "{PMID:Larsen 2014:24814739}" "" "" "" "" "" "0" "" "" "" "" "00063435" "" "" "" "1" "" "00125" "{PMID:Chidambaram 1996:8840969}" "NBCCS10" "" "" "" "" "0" "" "" "white" "" "00063436" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:9415689},{PMID:Smyth 1998:9654212}" "Patient NB88" "" "" "" "" "0" "" "" "" "" "00063437" "" "" "" "1" "" "00125" "{PMID:Savino 2004:15459969}" "" "" "" "" "" "0" "" "" "" "" "00063438" "" "" "" "1" "" "00125" "{PMID:Marsh 2005:16088933}" "" "" "" "" "" "0" "" "" "" "" "00063440" "" "" "" "1" "" "00125" "{PMID:Savino 2004:15459969}" "" "" "" "" "" "0" "" "" "" "" "00063441" "" "" "" "1" "" "00125" "{PMID:Takahashi 2009:19557015}" "" "" "" "" "" "0" "" "" "" "" "00063442" "" "" "" "1" "" "00125" "{PMID:Marsh 2005:16088933}" "" "" "" "" "" "0" "" "" "" "" "00063443" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "patient HC" "" "" "" "" "0" "" "" "" "" "00063444" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063445" "" "" "" "1" "" "00125" "{PMID:Wilson 2006:16906569}" "" "" "" "" "" "0" "" "" "" "" "00063446" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063447" "" "" "" "1" "" "00125" "{PMID:Nagao 2005:16203740}" "" "" "" "" "" "0" "" "" "" "" "00063448" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063449" "" "" "" "1" "" "00125" "{PMID:Guo 2013:24204797}" "" "" "" "" "" "0" "" "" "" "" "00063450" "" "" "" "1" "" "00125" "{PMID:Lam 2002:12175781}" "Family 3" "M" "" "China" "" "0" "" "" "" "" "00063451" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063452" "" "" "" "1" "" "00125" "{PMID:Guo 2013:24204797}" "" "" "" "" "" "0" "" "" "" "" "00063454" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063455" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063456" "" "" "" "1" "" "00125" "{PMID:Song 2006:16675912}" "" "" "" "" "" "0" "" "" "" "" "00063457" "" "" "" "1" "" "00125" "{PMID:Hasenpusche-Theil 1997:10200051}" "Patient L1" "M" "" "" "" "0" "" "" "" "" "00063458" "" "" "" "1" "" "00125" "{PMID:Tanioka 2005:15565302}" "" "" "" "" "" "0" "" "" "" "" "00063459" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063460" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063461" "" "" "" "1" "" "00125" "{PMID:Skodric-Trifunovic 2015:25727044}" "" "" "" "" "" "0" "" "" "" "" "00063462" "" "" "" "1" "" "00125" "{PMID:Fujii 2003:12655573}" "" "" "" "" "" "0" "" "" "" "" "00063463" "" "" "" "1" "" "00125" "{PMID:Soufir 2006:16909134}" "" "" "" "" "" "0" "" "" "" "" "00063464" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943},{PMID:Wicking 1997:9415689}" "Sporadic patient JRN" "" "" "" "" "0" "" "" "" "" "00063465" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063466" "" "" "" "1" "" "00125" "{PMID:Fujii 2003:12655573}" "" "" "" "" "" "0" "" "" "" "" "00063467" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063468" "" "" "" "1" "" "00125" "{PMID:Pruvost-Balland 2006:16508594}" "" "" "" "" "" "0" "" "" "" "" "00063469" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063470" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063471" "" "" "" "1" "" "00125" "{PMID:Hellani 2009:19203369}" "" "" "" "" "" "0" "" "" "" "" "00063472" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063473" "" "" "" "1" "" "00125" "{PMID:Guo 2013:24204797}" "" "" "" "" "" "0" "" "" "" "" "00063474" "" "" "" "1" "" "00125" "{PMID:Pruvost-Balland 2006:16508594}" "" "" "" "" "" "0" "" "" "" "" "00063475" "" "" "" "1" "" "00125" "{PMID:Ragge 2005:16024850}" "" "" "" "" "" "0" "" "" "" "" "00063476" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063477" "" "" "" "1" "" "00125" "{PMID:Sasaki 2010:19521425}" "" "" "" "" "" "0" "" "" "" "" "00063478" "" "" "" "1" "" "00125" "{PMID:Marsh 2005:16088933}" "" "" "" "" "" "0" "" "" "" "" "00063479" "" "" "" "1" "" "00125" "{PMID:Savino 2004:15459969}" "" "" "" "" "" "0" "" "" "" "" "00063480" "" "" "" "1" "" "00125" "{PMID:Lu 2008:18272036}" "" "" "" "" "" "0" "" "" "" "" "00063481" "" "" "" "1" "" "00125" "{PMID:Savino 2004:15459969}" "" "" "" "" "" "0" "" "" "" "" "00063482" "" "" "" "1" "" "00125" "{PMID:Takahashi 2009:19557015}" "" "" "" "" "" "0" "" "" "" "" "00063483" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063484" "" "" "" "1" "" "00125" "{PMID:Marsh 2005:16088933}" "" "" "" "" "" "0" "" "" "" "" "00063485" "" "" "" "1" "" "00125" "{PMID:Fujii 2003:12655573}" "" "" "" "" "" "0" "" "" "" "" "00063486" "" "" "" "1" "" "00125" "{PMID:Takahashi 2009:19557015}" "" "" "" "" "" "0" "" "" "" "" "00063487" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063488" "" "" "" "1" "" "00125" "{PMID:Pan 2009:20690502}" "" "" "" "" "" "0" "" "" "" "" "00063489" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943},{PMID:Wicking 1997:9415689}" "Sporadic patient MP264" "" "" "" "" "0" "" "" "" "" "00063490" "" "" "" "1" "" "00125" "{PMID:Savino 2004:15459969}" "" "" "" "" "" "0" "" "" "" "" "00063491" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063492" "" "" "" "1" "" "00125" "{PMID:Valdivielso-Ramos 2014:24635088}" "" "" "" "" "" "0" "" "" "" "" "00063493" "" "" "" "3" "" "00125" "{PMID:Minami 2001:11457640}" "case 1, brother and father affected" "M" "" "Japan" "" "0" "" "" "" "" "00063494" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Sporadic patient LK" "" "" "" "" "0" "" "" "" "" "00063495" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063496" "" "" "" "1" "" "00125" "{PMID:Johnson 1996:8658145}" "case 2" "F" "" "" "" "0" "" "" "" "" "00063497" "" "" "" "1" "" "00125" "{PMID:Soufir 2006:16909134}" "" "" "" "" "" "0" "" "" "" "" "00063498" "" "" "" "8" "" "00125" "{PMID:Chidambaram 1996:8840969}" "NBCCS9" "" "" "" "" "0" "" "" "white" "" "00063499" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063500" "" "" "" "1" "" "00125" "{PMID:Savino 2004:15459969}" "" "" "" "" "" "0" "" "" "" "" "00063501" "" "" "" "1" "" "00125" "{PMID:Seracchioli 2001:11387302}" "" "F" "" "Italy" "" "0" "" "" "" "" "00063502" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Sporadic patient DC" "" "" "" "" "0" "" "" "" "" "00063503" "" "" "" "1" "" "00125" "{PMID:Hahn 1996:8681379}" "" "" "" "" "" "0" "" "" "" "" "00063504" "" "" "" "1" "" "00125" "{PMID:Marsh 2005:16088933}" "" "" "" "" "" "0" "" "" "" "" "00063505" "" "" "" "1" "" "00125" "{PMID:Tate 2003:12604725}" "" "" "" "" "" "0" "" "" "" "" "00063506" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Patient CW424" "" "" "" "" "0" "" "" "" "" "00063507" "" "" "" "1" "" "00125" "PTCH1 LSDB, 2008 unpublished" "" "" "" "" "" "0" "" "" "" "" "00063508" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063509" "" "" "" "1" "" "00125" "{PMID:Pan 2009:20690502}" "" "" "" "" "" "0" "" "" "" "" "00063510" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063511" "" "" "" "1" "" "00125" "{PMID:Pruvost-Balland 2006:16508594}" "" "" "" "" "" "0" "" "" "" "" "00063512" "" "" "" "1" "" "00125" "{PMID:Pastorino 2005:15712338}" "" "" "" "" "" "0" "" "" "" "" "00063513" "" "" "" "1" "" "00125" "{PMID:Lench 1997:9341860}" "12-year-old NBCCS male" "M" "" "" "" "0" "" "" "" "" "00063514" "" "" "" "1" "" "00125" "{PMID:Tanioka 2005:15565302}" "" "" "" "" "" "0" "" "" "" "" "00063515" "" "" "" "1" "" "00125" "{PMID:Kool 2014:24651015}" "" "" "" "" "" "0" "" "" "" "" "00063516" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063517" "" "" "" "1" "" "00125" "{PMID:Pastorino 2005:15712338}" "" "" "" "" "" "0" "" "" "" "" "00063518" "" "" "" "1" "" "00125" "{PMID:Jimbo 2014:24257914}" "" "" "" "" "" "0" "" "" "" "" "00063519" "" "" "" "1" "" "00125" "{PMID:Guo 2013:24204797}" "" "" "" "" "" "0" "" "" "" "" "00063520" "" "" "" "2" "" "00125" "{PMID:Unden 1996:8840960}" "NBCCS2" "F" "" "Sweden" "" "0" "" "" "" "" "00063521" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063522" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Sporadic patient JW" "" "" "" "" "0" "" "" "" "" "00063523" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063524" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063525" "" "" "" "1" "" "00125" "{PMID:Savino 2004:15459969}" "" "" "" "" "" "0" "" "" "" "" "00063526" "" "" "" "1" "" "00125" "{PMID:Kitsiou-Tzeli 2011:21950490}" "" "" "" "" "" "0" "" "" "" "" "00063527" "" "" "" "1" "" "00125" "{PMID:Marsh 2005:16088933}" "" "" "" "" "" "0" "" "" "" "" "00063528" "" "" "" "1" "" "00125" "{PMID:Lench 1997:9341860}" "38-year-old NBCCS female" "F" "" "" "" "0" "" "" "" "" "00063529" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063530" "" "" "" "1" "" "00125" "{PMID:Chidambaram 1996:8840969}" "NBCCS1" "" "" "" "" "0" "" "" "white" "" "00063531" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943},{PMID:Wicking 1997:9415689}" "Sporadic patient JHK" "" "" "" "" "0" "" "" "" "" "00063532" "" "" "" "1" "" "00125" "{PMID:Pastorino 2005:15712338}" "" "" "" "" "" "0" "" "" "" "" "00063533" "" "" "" "1" "" "00125" "Okamoto 2014 Hum Genome Var 1" "" "" "" "" "" "0" "" "" "" "" "00063534" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Sporadic patient GS" "" "" "" "" "0" "" "" "" "" "00063535" "" "" "" "1" "" "00125" "{PMID:Lench 1997:9341860}" "42-year-old NBCCS male" "M" "" "" "" "0" "" "" "" "" "00063536" "" "" "" "1" "" "00125" "{PMID:Lee 2007:16780502}" "" "" "" "" "" "0" "" "" "" "" "00063537" "" "" "" "1" "" "00125" "{PMID:Chidambaram 1996:8840969}" "NBCCS3" "" "" "" "" "0" "" "" "white" "" "00063538" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063539" "" "" "" "1" "" "00125" "{PMID:Pastorino 2012:15712338}" "" "" "" "" "" "0" "" "" "" "" "00063540" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063541" "" "" "" "1" "" "00125" "{PMID:Savino 2004:15459969}" "" "" "" "" "" "0" "" "" "" "" "00063542" "" "" "" "1" "" "00125" "{PMID:Musani 2006:16596257}" "" "" "" "" "" "0" "" "" "" "" "00063543" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063544" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063545" "" "" "" "1" "" "00125" "Miyata 2015 Hum Genome Var 2" "" "" "" "" "" "0" "" "" "" "" "00063546" "" "" "" "1" "" "00125" "{PMID:Fujii 2003:12655573}" "" "" "" "" "" "0" "" "" "" "" "00063547" "" "" "" "1" "" "00125" "{PMID:Gu 2006:16931872}" "" "" "" "" "" "0" "" "" "" "" "00063548" "" "" "" "1" "" "00125" "{PMID:Genevieve 2005:16231297}" "" "" "" "" "" "0" "" "" "" "" "00063549" "" "" "" "1" "" "00125" "{PMID:Tostar 2006:16294371}" "" "" "" "" "" "0" "" "" "" "" "00063550" "" "" "" "1" "" "00125" "{PMID:Nagao 2005:16203740}" "" "" "" "" "" "0" "" "" "" "" "00063551" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063552" "" "" "" "1" "" "00125" "{PMID:Lam 2002:12175781}" "Family 2" "F" "" "China" "" "0" "" "" "" "" "00063553" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Sporadic patient CM" "" "" "" "" "0" "" "" "" "" "00063554" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:9415689}" "Patient MB229" "" "" "" "" "0" "" "" "" "" "00063555" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:9415689}" "Patient JK211" "" "" "" "" "0" "" "" "" "" "00063556" "" "" "" "1" "" "00125" "{PMID:Marsh 2005:16088933}" "" "" "" "" "" "0" "" "" "" "" "00063557" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063558" "" "" "" "1" "" "00125" "{PMID:Pruvost-balland 2006:16508594}" "" "" "" "" "" "0" "" "" "" "" "00063559" "" "" "" "1" "" "00125" "{PMID:Hahn 1996:8681379}" "" "" "" "" "" "0" "" "" "" "" "00063560" "" "" "" "1" "" "00125" "{PMID:Pastorino 2005:15712338}" "" "" "" "" "" "0" "" "" "" "" "00063561" "" "" "" "1" "" "00125" "{PMID:Hahn 1996:8681379}" "" "" "" "" "" "0" "" "" "" "" "00063562" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063563" "" "" "" "1" "" "00125" "{PMID:Muramatsu 2005:15840128}" "" "" "" "" "" "0" "" "" "" "" "00063564" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063565" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Family TH" "" "" "" "" "0" "" "" "" "" "00063566" "" "" "" "2" "" "00125" "{PMID:Lam 2002:12175781}" "Family 1, also affected father" "M" "" "China" "" "0" "" "" "" "" "00063567" "" "" "" "3" "" "00125" "{PMID:Johnson 1996:8658145}" "Affected patient with affected sister and daughter" "M" "" "" "" "0" "" "" "" "" "00063568" "" "" "" "1" "" "00125" "{PMID:Tanioka 2005:15565302}" "" "" "" "" "" "0" "" "" "" "" "00063569" "" "" "" "1" "" "00125" "{PMID:Guo 2013:24204797}" "" "" "" "" "" "0" "" "" "" "" "00063570" "" "" "" "1" "" "00125" "{PMID:Pastorino 2005:15712338}" "" "" "" "" "" "0" "" "" "" "" "00063571" "" "" "" "1" "" "00125" "{PMID:Fujii 2011:12655573}" "" "" "" "" "" "0" "" "" "" "" "00063572" "" "" "" "1" "" "00125" "{PMID:Nagao 2005:16203740}" "" "" "" "" "" "0" "" "" "" "" "00063573" "" "" "" "1" "" "00125" "{PMID:Soufir 2006:16909134}" "" "" "" "" "" "0" "" "" "" "" "00063574" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Family DE" "" "" "" "" "0" "" "" "" "" "00063575" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Family JRD" "" "" "" "" "0" "" "" "" "" "00063576" "" "" "" "2" "" "00125" "{PMID:Unden 1996:8840960}" "NBCCS3" "M" "" "Sweden" "" "0" "" "" "" "" "00063577" "" "" "" "1" "" "00125" "{PMID:Matsuzawa 2006:17021131}" "" "" "" "" "" "0" "" "" "" "" "00063578" "" "" "" "1" "" "00125" "{PMID:Soufir 2006:16909134}" "" "" "" "" "" "0" "" "" "" "" "00063579" "" "" "" "1" "" "00125" "{PMID:Garcia-Oguiza 2006:16883514}" "" "" "" "" "" "0" "" "" "" "" "00063580" "" "" "" "1" "" "00125" "{PMID:Lench 1997:9341860}" "18-year-old NBCCS female" "F" "" "" "" "0" "" "" "" "" "00063581" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063582" "" "" "" "1" "" "00125" "{PMID:Nagao 2005:16203740}" "" "" "" "" "" "0" "" "" "" "" "00063583" "" "" "" "1" "" "00125" "{PMID:Sun 2008:18502968}" "" "" "" "" "" "0" "" "" "" "" "00063584" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00063585" "" "" "" "1" "" "00125" "{PMID:Kool 2014:24651015}" "" "" "" "" "" "0" "" "" "" "" "00063586" "" "" "" "1" "" "00125" "{PMID:Sasaki 2009:19521425}" "" "" "" "" "" "0" "" "" "" "" "00063587" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063588" "" "" "" "1" "" "00125" "{PMID:Chidambaram 1996:8840969}" "NBCCS2" "" "" "" "" "0" "" "" "white" "" "00063589" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063590" "" "" "" "1" "" "00125" "{PMID:Prodinger 2010:20609239}" "" "" "" "" "" "0" "" "" "" "" "00063591" "" "" "" "1" "" "00125" "{PMID:Boutet 2003:12925203}" "" "" "" "" "" "0" "" "" "" "" "00063592" "" "" "" "1" "" "00125" "{PMID:Marsh 2005:16088933}" "" "" "" "" "" "0" "" "" "" "" "00063593" "" "" "" "1" "" "00125" "{PMID:Savino 2004:15459969}" "" "" "" "" "" "0" "" "" "" "" "00063594" "" "" "" "1" "" "00125" "{PMID:Marsh 2005:16088933}" "" "" "" "" "" "0" "" "" "" "" "00063595" "" "" "" "1" "" "00125" "{PMID:Marsh 2005:16088933}" "" "" "" "" "" "0" "" "" "" "" "00063596" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063597" "" "" "" "1" "" "00125" "{PMID:Aradhya 2012:22382802}" "" "?" "?" "" "" "0" "" "" "" "" "00063598" "" "" "" "2" "" "00125" "{PMID:Aradhya 2012:22382802}" "" "-" "?" "" "" "0" "" "" "" "" "00063599" "" "" "" "1" "" "00125" "{PMID:Aradhya 2012:22382802}" "" "" "" "" "" "0" "" "" "" "" "00063600" "" "" "" "1" "" "00125" "{PMID:Aradhya 2012:22382802}" "no individual data available." "?" "" "" "" "0" "" "" "" "" "00063601" "" "" "" "1" "" "00125" "{PMID:Aradhya 2012:22382802}" "" "" "" "" "" "0" "" "" "" "" "00063602" "" "" "" "1" "" "00125" "{PMID:Fujii 2007:12655573}" "" "" "" "" "" "0" "" "" "" "" "00063603" "" "" "" "1" "" "00125" "{PMID:Ibn-Salem 2014:25315429}" "" "" "" "" "" "0" "" "" "" "" "00063604" "" "" "" "1" "" "00125" "{PMID:Nagao 2011:16203740}" "" "" "" "" "" "0" "" "" "" "" "00063605" "" "" "" "1" "" "00125" "{PMID:Takahashi 2009:19557015}" "" "" "" "" "" "0" "" "" "" "" "00063606" "" "" "" "1" "" "00125" "{PMID:Garavelli 2013:24124115}" "" "F" "no" "" "39y" "0" "" "" "" "" "00063607" "" "" "" "1" "" "00125" "{PMID:Fujii 2007:12655573}" "" "" "" "" "" "0" "" "" "" "" "00063608" "" "" "" "1" "" "00125" "{PMID:Boonen 2005:15690381}" "" "" "" "" "" "0" "" "" "" "" "00063609" "" "" "" "1" "" "00125" "{PMID:Nagao 2011:16203740}" "" "" "" "" "" "0" "" "" "" "" "00063610" "" "" "" "1" "" "00125" "{PMID:Klein 2005:16301862}" "" "" "" "" "" "0" "" "" "" "" "00063611" "" "" "" "1" "" "00125" "{PMID:Delbroek 2011:21190878}" "" "" "" "" "" "0" "" "" "" "" "00063612" "" "" "" "4" "" "00125" "{PMID:Unden 1996:8840960}" "NBCCS1" "M" "" "Sweden" "" "0" "" "" "" "" "00063613" "" "" "" "1" "" "00125" "{PMID:Hahn 1996:8681379}" "" "" "" "" "" "0" "" "" "" "" "00063614" "" "" "" "1" "" "00125" "{PMID:Musani 2009:16596257}" "" "" "" "" "" "0" "" "" "" "" "00063615" "" "" "" "1" "" "00125" "{PMID:Fujii 2007:12655573}" "" "" "" "" "" "0" "" "" "" "" "00063616" "" "" "" "1" "" "00125" "{PMID:Nowakowska 2007:17632781}" "" "" "" "" "" "0" "" "" "" "" "00063617" "" "" "" "2" "" "00125" "{PMID:Wicking 1997:8981943}" "Dizygotic twin patients DS" "" "" "" "" "0" "" "" "" "" "00063618" "" "" "" "1" "" "00125" "{PMID:Soufir 2006:16909134}" "" "" "" "" "" "0" "" "" "" "" "00063619" "" "" "" "1" "" "00125" "{PMID:Endo 2009:19618880}" "" "" "" "" "" "0" "" "" "" "" "00063620" "" "" "" "1" "" "00125" "{PMID:Kosaki 2012:22711650}" "" "" "" "" "" "0" "" "" "" "" "00063621" "" "" "" "1" "" "00125" "{PMID:Izumi 2011:21567912}" "" "" "" "" "" "0" "" "" "" "" "00063622" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943},{PMID:Smyth 1998:9654212}" "Sporadic patient IMc or IM555" "" "" "" "" "0" "" "" "" "" "00063623" "" "" "" "1" "" "00125" "{PMID:Mazzuoccolo 2014:25188659}" "" "" "" "" "" "0" "" "" "" "" "00063624" "" "" "" "1" "" "00125" "{PMID:Derwinska 2009:18830227}" "" "" "" "" "" "0" "" "" "" "" "00063625" "" "" "" "1" "" "00125" "{PMID:Takahashi 2009:19557015}" "" "" "" "" "" "0" "" "" "" "" "00063626" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "" "" "" "" "" "0" "" "" "" "" "00063627" "" "" "" "1" "" "00125" "{PMID:Tanioka 2005:15565302}" "" "" "" "" "" "0" "" "" "" "" "00063628" "" "" "" "1" "" "00125" "{PMID:Endo 2009:19618880}" "" "" "" "" "" "0" "" "" "" "" "00063629" "" "" "" "1" "" "00125" "{PMID:Tietze 2013:24131384}" "" "" "" "" "" "0" "" "" "" "" "00080795" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00081549" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00086968" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086969" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086970" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086971" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086972" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086973" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086974" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086975" "" "" "" "1" "" "00125" "{PMID:Gielen 2018:29930296}" "" "M" "" "Finland" "" "0" "" "" "" "" "00086976" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086977" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086978" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086979" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086980" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086981" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086982" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086983" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086984" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086985" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086986" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086987" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086988" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086989" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086990" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086991" "" "" "" "3" "" "00125" "van Geel/Gille 2016, submitted" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00086992" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086993" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086994" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086995" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086996" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086997" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086998" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00086999" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087000" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087001" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087002" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087003" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087004" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087005" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087006" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087007" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087008" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087009" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087010" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087011" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087012" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087013" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087014" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087015" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087016" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087017" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087018" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087019" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087020" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087021" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087022" "" "" "" "4" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087023" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087024" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087025" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087026" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00087027" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087028" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087029" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087030" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087031" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087032" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087033" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087034" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087035" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087036" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087037" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087038" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087039" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087040" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087041" "" "" "" "3" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087042" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087043" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087044" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087045" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087046" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087047" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087048" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "M" "" "Sweden" "" "0" "" "" "" "" "00087049" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087050" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087051" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087052" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087053" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087054" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087055" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087056" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087057" "" "" "" "3" "" "00125" "van Geel/Gille 2016, submitted" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00087058" "" "" "" "2" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087059" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087060" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087061" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087062" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087063" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087064" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087065" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087066" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087067" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087068" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087069" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087070" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087071" "" "" "" "4" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087072" "" "" "" "3" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087073" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00087074" "" "" "" "1" "" "00125" "van Geel/Gille 2016, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "" "00090112" "" "" "" "7" "" "00125" "{PMID:Chidambaram 1996:8840969}" "NBCCS4" "" "" "" "" "0" "" "" "African-American" "" "00090117" "" "" "" "1" "" "00125" "{PMID:Chidambaram 1996:8840969}" "NBCCS7" "F" "" "" "" "0" "" "" "white" "" "00090118" "" "" "" "1" "" "00125" "{PMID:Chidambaram 1996:8840969}" "NBCCS8" "" "" "" "" "0" "" "" "white" "" "00090150" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Family JM" "" "" "" "" "0" "" "" "" "" "00090156" "" "" "" "5" "" "00125" "{PMID:Wicking 1997:8981943}" "Family CB" "" "" "" "" "0" "" "" "" "" "00090160" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943},{PMID:Wicking 1997:9415689}" "Sporadic patient BK273" "" "" "" "" "0" "" "" "" "" "00090164" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Family MC" "" "" "" "" "0" "" "" "" "" "00090260" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943},{PMID:Wicking 1997:9415689}" "Sporadic patient KS356" "" "" "" "" "0" "" "" "" "" "00090261" "" "" "" "1" "" "00125" "{PMID:Wicking 1997:8981943}" "Family WS" "" "" "" "" "0" "" "" "" "" "00090264" "" "" "" "1" "" "00125" "{PMID:Chassaing 2016:26893459}" "Patient P5" "" "" "" "" "0" "" "" "" "" "00090967" "" "" "" "1" "" "00125" "{PMID:Chassaing 2016:26893459}" "Family P8" "" "" "" "" "0" "" "" "" "" "00090968" "" "" "" "1" "" "00125" "{PMID:Chassaing 2016:26893459}" "Family P15" "" "" "" "" "0" "" "" "" "" "00091296" "" "" "" "1" "" "00125" "{PMID:Chassaing 2016:26893459}" "Family P17" "" "" "" "" "0" "" "" "" "" "00091297" "" "" "" "2" "" "00125" "{PMID:Chassaing 2016:26893459}" "Family P20" "" "" "" "" "0" "" "" "" "" "00091298" "" "" "" "1" "" "00125" "{PMID:Chassaing 2016:26893459}" "Patient CC-44" "" "" "" "" "0" "" "" "" "" "00091299" "" "" "" "1" "" "00125" "{PMID:Chassaing 2016:26893459}" "Patient CC-10" "" "" "" "" "0" "" "" "" "" "00095412" "" "" "" "1" "" "00125" "{PMID:Aszterbaum 1998:9620294}" "" "" "" "" "" "0" "" "" "" "" "00100266" "" "" "" "1" "" "00125" "" "" "M" "" "Sweden" "" "0" "" "" "" "" "00100267" "" "" "" "1" "" "00125" "Gille/ van Geel submitted" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00100268" "" "" "" "1" "" "00125" "van Geel/Gille, submitted" "" "F" "" "Belgium" "" "0" "" "" "" "" "00100269" "" "" "" "1" "" "00125" "van Geel/Gille, submitted" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00100333" "" "" "" "1" "" "00125" "van Geel/Gille, submitted" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00100334" "" "" "" "2" "" "00125" "van Geel/Gille, submitted" "" "M" "" "Belgium" "" "0" "" "" "" "" "00100335" "" "" "" "1" "" "00125" "van Geel/Gille, submitted" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00100336" "" "" "" "1" "" "00125" "van Geel/Gille, submitted" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00100337" "" "" "" "1" "" "00125" "van Geel/Gille, submitted" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00100338" "" "" "" "1" "" "00125" "van Geel/Gille, submitted" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00100658" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101227" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00131885" "" "" "" "1" "" "02232" "" "" "M" "" "" "" "0" "" "" "" "" "00163992" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00271474" "" "" "" "1" "" "02061" "" "" "" "" "Saudi Arabia" "" "0" "" "" "Arab" "" "00275585" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00276037" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00294900" "" "" "" "45" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294901" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294903" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294904" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294905" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294906" "" "" "" "200" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294907" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294908" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294909" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294910" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299452" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00305258" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305259" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307069" "" "" "" "1" "" "03744" "{PMID:Vulin 2018:30191873}" "From Coriell Institute Camden, NJ, USA" "F" "-" "United States" "" "0" "" "" "" "GMO-1725" "00307071" "" "" "" "1" "" "03744" "{PMID:Vulin 2018:30191873}" "from Coriell Institute, Camden, NJ, USA" "F" "?" "United States" "" "0" "" "" "" "GMO-1725" "00307072" "" "" "" "1" "" "03744" "{PMID:Vulin 2018:30191873}" "from Coriell Institute, Camden, NJ, USA" "M" "" "United States" "" "0" "" "" "" "GMO-1657" "00307074" "" "" "" "1" "" "03744" "Charazac et al. Frontiers in oncology, vol10, 2020" "from Coriell Institute, Camden, NJ, USA" "F" "" "United States" "" "0" "" "" "" "GMO-3300" "00308726" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00406738" "" "" "" "2" "" "00006" "{PMID:Drissi 2022:33820834}" "4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2Pat1" "00406740" "" "" "00406738" "1" "" "00006" "{PMID:Drissi 2022:33820834}" "sister" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2Pat2" "00406985" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00406986" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00416028" "" "" "" "1" "" "00006" "{PMID:Igaz 2022:34916233}" "2 generation family, affected mother/son" "M" "" "Hungary" "" "0" "" "" "" "patient" "00419643" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "8111" "00434799" "" "" "" "3" "" "00006" "{PMID:Furey 2018:29983323}" "2-generation family, affected mother/2 sons" "F;M" "" "" "" "0" "" "" "" "HydroFam100" "00434800" "" "" "" "1" "" "00006" "{PMID:Furey 2018:29983323}" "2-generation family, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Hydro104" "00434801" "" "" "" "1" "" "00006" "{PMID:Furey 2018:29983323}" "2-generation family, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Hydro103" "00443352" "" "" "" "1" "" "04600" "" "" "" "" "" "" "" "" "" "" "" "00444371" "" "" "" "2" "" "00006" "{PMID:Aubert-Mucca 2021:32737437}" "2-generation family, 1 affected" "F" "" "France" "" "0" "" "" "" "SG080744" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 520 "{{individualid}}" "{{diseaseid}}" "00036599" "01191" "00036603" "00198" "00036608" "00198" "00036613" "00198" "00036614" "00198" "00036615" "00198" "00036616" "00198" "00056272" "00438" "00056273" "00000" "00056274" "00198" "00056275" "00438" "00056276" "00000" "00056311" "00438" "00056312" "00438" "00056313" "00438" "00056314" "00000" "00056315" "00438" "00063298" "05150" "00063299" "01191" "00063300" "01191" "00063301" "01191" "00063302" "01191" "00063303" "01191" "00063304" "01191" "00063305" "01191" "00063306" "01191" "00063307" "01191" "00063308" "01191" "00063309" "01191" "00063310" "01191" "00063311" "01191" "00063312" "01191" "00063313" "01191" "00063314" "01191" "00063315" "01191" "00063316" "01191" "00063317" "01191" "00063318" "05150" "00063319" "05150" "00063320" "01191" "00063321" "01191" "00063322" "01429" "00063323" "01191" "00063324" "01191" "00063325" "01191" "00063326" "01191" "00063327" "01191" "00063328" "01191" "00063329" "01191" "00063330" "01191" "00063331" "01191" "00063332" "02985" "00063333" "01191" "00063334" "01191" "00063335" "01191" "00063336" "05155" "00063337" "01191" "00063338" "02985" "00063339" "01191" "00063340" "01191" "00063341" "01191" "00063342" "01191" "00063343" "01191" "00063344" "01191" "00063345" "01191" "00063346" "01191" "00063347" "01191" "00063348" "01191" "00063349" "05150" "00063350" "01191" "00063351" "01191" "00063352" "01191" "00063353" "01191" "00063354" "01191" "00063355" "01191" "00063356" "01191" "00063357" "01191" "00063358" "01191" "00063359" "01191" "00063360" "01191" "00063361" "01191" "00063362" "01191" "00063363" "02985" "00063364" "01191" "00063365" "02985" "00063366" "02551" "00063367" "01191" "00063368" "01191" "00063369" "01191" "00063370" "01191" "00063371" "01191" "00063372" "02985" "00063373" "01191" "00063374" "01191" "00063375" "02985" "00063376" "01191" "00063377" "01191" "00063378" "01191" "00063379" "01191" "00063380" "01191" "00063381" "01191" "00063382" "02280" "00063383" "01191" "00063384" "01191" "00063385" "01191" "00063386" "01191" "00063387" "01191" "00063388" "02985" "00063389" "01191" "00063390" "01191" "00063391" "01191" "00063392" "05150" "00063393" "01191" "00063394" "01191" "00063395" "01191" "00063396" "01191" "00063397" "02551" "00063398" "01191" "00063399" "01191" "00063400" "01191" "00063401" "05150" "00063402" "01192" "00063403" "01191" "00063404" "01191" "00063405" "01191" "00063406" "05154" "00063407" "01191" "00063408" "05155" "00063409" "01191" "00063410" "01191" "00063411" "01191" "00063412" "05150" "00063413" "01191" "00063414" "01191" "00063415" "01191" "00063416" "01191" "00063417" "01191" "00063418" "01191" "00063419" "01191" "00063420" "01191" "00063421" "01191" "00063422" "01191" "00063423" "05150" "00063424" "05150" "00063425" "01191" "00063426" "01191" "00063427" "01191" "00063428" "01191" "00063429" "01191" "00063430" "01191" "00063431" "05150" "00063432" "01191" "00063433" "01191" "00063434" "01191" "00063435" "01191" "00063436" "01191" "00063437" "01191" "00063438" "01191" "00063440" "01191" "00063441" "01191" "00063442" "01191" "00063443" "01191" "00063444" "01191" "00063445" "01191" "00063446" "01191" "00063447" "01191" "00063448" "01191" "00063449" "05150" "00063450" "01191" "00063451" "01191" "00063452" "05150" "00063454" "01191" "00063455" "01191" "00063456" "01191" "00063457" "01191" "00063458" "01191" "00063459" "01191" "00063460" "01191" "00063461" "01191" "00063462" "01191" "00063463" "01191" "00063464" "01191" "00063465" "01191" "00063466" "01191" "00063467" "01191" "00063468" "01191" "00063469" "01191" "00063470" "01191" "00063471" "01191" "00063472" "01191" "00063473" "05150" "00063474" "01191" "00063475" "01191" "00063476" "01191" "00063477" "01191" "00063478" "01191" "00063479" "01191" "00063480" "01191" "00063481" "01191" "00063482" "01191" "00063483" "01191" "00063484" "01191" "00063485" "01191" "00063486" "01191" "00063487" "01191" "00063488" "01191" "00063489" "01191" "00063490" "01191" "00063491" "01191" "00063492" "01191" "00063493" "01191" "00063494" "01191" "00063495" "01191" "00063496" "01191" "00063497" "01191" "00063498" "01191" "00063499" "01191" "00063500" "01191" "00063501" "01191" "00063502" "01191" "00063503" "01191" "00063504" "01191" "00063505" "01191" "00063506" "01191" "00063507" "01191" "00063508" "01191" "00063509" "01191" "00063510" "01191" "00063511" "01191" "00063512" "01191" "00063513" "01191" "00063514" "01191" "00063515" "01191" "00063516" "01191" "00063517" "01191" "00063518" "01191" "00063519" "05150" "00063520" "01191" "00063521" "01191" "00063522" "01191" "00063523" "01191" "00063524" "01191" "00063525" "01191" "00063526" "01191" "00063527" "01191" "00063528" "01191" "00063529" "01191" "00063530" "01191" "00063531" "01191" "00063532" "01191" "00063533" "01191" "00063534" "01191" "00063535" "01191" "00063536" "01191" "00063537" "01191" "00063538" "01191" "00063539" "01191" "00063540" "01191" "00063541" "01191" "00063542" "01191" "00063543" "01191" "00063544" "01191" "00063545" "01191" "00063546" "01191" "00063547" "05150" "00063548" "01191" "00063549" "01191" "00063550" "01191" "00063551" "01191" "00063552" "01191" "00063553" "01191" "00063554" "01191" "00063555" "01191" "00063556" "01191" "00063557" "01191" "00063558" "01191" "00063559" "01191" "00063560" "01191" "00063561" "01191" "00063562" "01191" "00063563" "01191" "00063564" "01191" "00063565" "01191" "00063566" "01191" "00063567" "01191" "00063568" "01191" "00063569" "05150" "00063570" "01191" "00063571" "01191" "00063572" "01191" "00063573" "01191" "00063574" "01191" "00063575" "01191" "00063576" "01191" "00063577" "01191" "00063578" "01191" "00063579" "01191" "00063580" "01191" "00063581" "01191" "00063582" "01191" "00063583" "05150" "00063584" "01191" "00063585" "01429" "00063586" "01191" "00063587" "01191" "00063588" "01191" "00063589" "01191" "00063590" "01191" "00063591" "01191" "00063592" "01191" "00063593" "01191" "00063594" "01191" "00063595" "01191" "00063596" "01191" "00063597" "01191" "00063598" "01191" "00063599" "01191" "00063600" "01191" "00063601" "01191" "00063602" "01191" "00063603" "00010" "00063604" "01191" "00063605" "01191" "00063606" "01191" "00063607" "01191" "00063608" "01191" "00063609" "01191" "00063610" "01191" "00063611" "01191" "00063612" "01191" "00063613" "01191" "00063614" "01191" "00063615" "01191" "00063616" "01191" "00063617" "01191" "00063618" "01191" "00063619" "01191" "00063620" "01191" "00063621" "00198" "00063622" "01191" "00063623" "01191" "00063624" "00010" "00063625" "01191" "00063626" "01191" "00063627" "01191" "00063628" "01191" "00063629" "01191" "00080795" "00103" "00080795" "01191" "00081549" "01191" "00086968" "02551" "00086969" "01191" "00086970" "01191" "00086971" "00198" "00086972" "01191" "00086973" "01191" "00086974" "01191" "00086975" "01191" "00086976" "01191" "00086977" "01901" "00086978" "01191" "00086979" "01191" "00086980" "01191" "00086981" "01191" "00086982" "01191" "00086983" "01191" "00086984" "01191" "00086985" "00198" "00086986" "01191" "00086987" "01191" "00086988" "01191" "00086989" "02551" "00086990" "01191" "00086991" "01191" "00086992" "01191" "00086993" "01191" "00086994" "01191" "00086995" "02551" "00086996" "01191" "00086997" "01191" "00086998" "01191" "00086999" "02551" "00087000" "01191" "00087001" "01191" "00087002" "01191" "00087003" "01191" "00087004" "01191" "00087005" "01191" "00087006" "01191" "00087007" "01191" "00087008" "01191" "00087009" "02551" "00087010" "00198" "00087011" "01901" "00087012" "01191" "00087013" "01191" "00087014" "01191" "00087015" "01191" "00087016" "01191" "00087017" "01191" "00087018" "01191" "00087019" "01191" "00087020" "01191" "00087021" "01191" "00087022" "01191" "00087023" "01191" "00087024" "01191" "00087025" "01191" "00087026" "01191" "00087027" "01191" "00087028" "01191" "00087029" "01191" "00087030" "01191" "00087031" "01191" "00087032" "01191" "00087033" "01191" "00087034" "01191" "00087035" "01191" "00087036" "01191" "00087037" "01191" "00087038" "01191" "00087039" "01191" "00087040" "01191" "00087041" "01191" "00087042" "01191" "00087043" "01191" "00087044" "01191" "00087045" "02551" "00087046" "01191" "00087047" "01191" "00087048" "01191" "00087049" "01191" "00087050" "00198" "00087051" "01191" "00087052" "01901" "00087053" "01191" "00087054" "01191" "00087055" "01191" "00087056" "01191" "00087057" "01191" "00087058" "01191" "00087059" "00198" "00087060" "01191" "00087061" "01191" "00087062" "01191" "00087063" "01191" "00087064" "01191" "00087065" "01191" "00087066" "01191" "00087067" "01191" "00087068" "01191" "00087069" "01191" "00087070" "01191" "00087071" "01191" "00087072" "01191" "00087073" "01191" "00087074" "01191" "00090112" "01191" "00090117" "01191" "00090118" "01191" "00090150" "01191" "00090156" "01191" "00090160" "01191" "00090164" "01191" "00090260" "01191" "00090261" "01191" "00090264" "05209" "00090967" "05209" "00090968" "05209" "00091296" "05209" "00091297" "05209" "00091298" "05209" "00091299" "05209" "00095412" "01191" "00100266" "01191" "00100267" "01191" "00100268" "01191" "00100269" "01191" "00100333" "01191" "00100334" "01191" "00100335" "01191" "00100336" "01191" "00100337" "02551" "00100338" "02551" "00100658" "01191" "00101227" "01191" "00131885" "05333" "00163992" "01191" "00271474" "00291" "00275585" "00198" "00276037" "00198" "00294900" "00198" "00294901" "00198" "00294903" "00198" "00294904" "00198" "00294905" "00198" "00294906" "00198" "00294907" "00198" "00294908" "00198" "00294909" "00198" "00294910" "00198" "00299452" "00198" "00305258" "00198" "00305259" "00198" "00307069" "01191" "00307071" "01191" "00307072" "01191" "00307074" "01191" "00308726" "00000" "00406738" "00438" "00406740" "00438" "00406985" "05489" "00406986" "05489" "00416028" "01191" "00419643" "00198" "00434799" "07009" "00434800" "07009" "00434801" "07009" "00443352" "01191" "00444371" "00402" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00010, 00103, 00198, 00291, 00402, 00438, 01191, 01192, 01429, 01901, 02280, 02551, 02985, 05150, 05154, 05155, 05209, 05333, 05489, 07009 ## Count = 489 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000042910" "00438" "00056272" "00006" "Isolated (sporadic)" "" "bilateral cleft lip/palate (HP:0002744), semilobar holoprosencephaly (HP:0002507), hypopituitarism (HP:0040075), absent anterior and partly absent posterior interhemispheric fissure, continuity frontal lobe, continuous gyri across midline, midline ventricle with single frontal horn but partial separation posterior horns, partial separation parietal/occipital lobes" "" "" "" "" "" "" "" "" "" "" "" "0000042929" "00438" "00056311" "00006" "Familial" "" "semilobar holoprosencephaly (HP:0002507), absent corpus callosum (HP:0001274), fused thalami (HP:0010664)" "" "" "" "" "" "" "" "" "" "" "" "0000042930" "00438" "00056312" "00006" "Familial" "" "single central maxillary incisor, bilateral cleft lip/palate (HP:0002744), developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000042931" "00438" "00056313" "00006" "Isolated (sporadic)" "" "holoprosencephaly (HP:0002507), partial agenesis corpus callosum (HP:0001338), panhypopituitarism (HP:0000871), midline cleft lip/palate (HP:0008501), small omphalocele (HP:0001539), mild/moderate developmental delay (HP:0011342)" "" "" "" "" "" "" "" "" "" "" "" "0000042932" "00438" "00056315" "00006" "Isolated (sporadic)" "" "holoprosencephaly (HP:0002507), seizures (HP:0001250), bilateral cleft lip (HP:0100336)" "" "" "" "" "" "" "" "" "" "" "" "0000042993" "00438" "00056275" "00006" "Familial" "" "alobar holoprosencephaly (HP:0006988), hypotelorism (HP:0000601), upward slanting palpebral fissures (HP:0000582)" "" "" "" "" "" "" "" "" "" "" "" "0000042994" "00198" "00056274" "00006" "Unknown" "" "hypotelorism (HP:0000601), developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000049869" "05150" "00063298" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049870" "01191" "00063299" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049871" "01191" "00063300" "00125" "Unknown" "16y" "multiple jaw cysts and BCCs, broad nasal root, hypertelorism, frontal bossing, palmoplantar pits, bifid rib, calcification\r\nof the falx cerebri and enlargement of the\r\ncerebral ventricles." "" "" "" "" "" "" "" "" "" "" "" "0000049872" "01191" "00063301" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049873" "01191" "00063302" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049874" "01191" "00063303" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049875" "01191" "00063304" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049876" "01191" "00063305" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049877" "01191" "00063306" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049878" "01191" "00063307" "00125" "Isolated (sporadic)" "" "Multiple BCC, dense calcification of falx, palmar pitting, keratocysts, high arched palate." "" "" "" "" "" "" "" "" "" "" "" "0000049879" "01191" "00063308" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049880" "01191" "00063309" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049881" "01191" "00063310" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049882" "01191" "00063311" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049883" "01191" "00063312" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049884" "01191" "00063313" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049885" "01191" "00063314" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049886" "01191" "00063315" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049887" "01191" "00063316" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049888" "01191" "00063317" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049889" "05150" "00063318" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049890" "05150" "00063319" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049891" "01191" "00063320" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049892" "01191" "00063321" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049893" "01429" "00063322" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049894" "01191" "00063323" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049895" "01191" "00063324" "00125" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049896" "01191" "00063325" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049897" "01191" "00063326" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049898" "01191" "00063327" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049899" "01191" "00063328" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049900" "01191" "00063329" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049901" "01191" "00063330" "00125" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049902" "01191" "00063331" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049903" "02985" "00063332" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049904" "01191" "00063333" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049905" "01191" "00063334" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049906" "01191" "00063335" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049907" "05155" "00063336" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049908" "01191" "00063337" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049909" "02985" "00063338" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049910" "01191" "00063339" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049911" "01191" "00063340" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049912" "01191" "00063341" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049913" "01191" "00063342" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049914" "01191" "00063343" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049915" "01191" "00063344" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049916" "01191" "00063345" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049917" "01191" "00063346" "00125" "Familial, autosomal dominant" "" "BCCs in 1 patient, odontogenic keratocysts in 2 patients, palmar and/or plantar pits in 1 patient, medulloblastoma in 1 patient." "" "" "" "" "" "" "" "" "" "" "" "0000049918" "01191" "00063347" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049919" "01191" "00063348" "00125" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049920" "05150" "00063349" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049921" "01191" "00063350" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049922" "01191" "00063351" "00125" "Familial, autosomal dominant" "" "multiple jaw cysts, hypertelorism, many BCCs, spina bifida occulta of the upper and lower thoracic dorsal arches." "" "" "" "" "" "" "" "" "" "" "" "0000049923" "01191" "00063352" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049924" "01191" "00063353" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049925" "01191" "00063354" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049926" "01191" "00063355" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049927" "01191" "00063356" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049928" "01191" "00063357" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049929" "01191" "00063358" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049930" "01191" "00063359" "00125" "Isolated (sporadic)" "" "jaw cysts, palmar pits, calcified falx cerebri, bridging of the sella turcica, large naevi on his back and spina bifida occulta of the cervical and thoracic region." "" "" "" "" "" "" "" "" "" "" "" "0000049931" "01191" "00063360" "00125" "Isolated (sporadic)" "" "Keratocysts, dense calcification of falx, macrocephaly, congenital anomaly of thoracic vertebrae." "" "" "" "" "" "" "" "" "" "" "" "0000049932" "01191" "00063361" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049933" "01191" "00063362" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049934" "02985" "00063363" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049935" "01191" "00063364" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049936" "02985" "00063365" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049937" "02551" "00063366" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049938" "01191" "00063367" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049939" "01191" "00063368" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049940" "01191" "00063369" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049941" "01191" "00063370" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049942" "01191" "00063371" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049943" "02985" "00063372" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049944" "01191" "00063373" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049945" "01191" "00063374" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049946" "02985" "00063375" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049947" "01191" "00063376" "00125" "Unknown" "27y" "frontal bossing, marfanoid build, bifid rib, and hypertelorism." "" "" "" "" "" "" "" "" "" "" "" "0000049948" "01191" "00063377" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049949" "01191" "00063378" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049950" "01191" "00063379" "00125" "Isolated (sporadic)" "" "jaw cysts, bifid ribs, scoliosis, kyphosis, hypertelorism and numerous BCCs on face, scalp and trunk." "" "" "" "" "" "" "" "" "" "" "" "0000049951" "01191" "00063380" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049952" "01191" "00063381" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049953" "02280" "00063382" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049954" "01191" "00063383" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049955" "01191" "00063384" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049956" "01191" "00063385" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049957" "01191" "00063386" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049958" "01191" "00063387" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049959" "02985" "00063388" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049960" "01191" "00063389" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049961" "01191" "00063390" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049962" "01191" "00063391" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049963" "05150" "00063392" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049964" "01191" "00063393" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049965" "01191" "00063394" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049966" "01191" "00063395" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049967" "01191" "00063396" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049968" "02551" "00063397" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049969" "01191" "00063398" "00125" "Familial, autosomal dominant" "78y" "more than 300 BCCs and multiple keratocysts" "" "" "" "" "" "" "" "" "" "" "" "0000049970" "01191" "00063399" "00125" "Familial, autosomal dominant" "" "BCC in 7 patients, odontogenic keratocysts in 3 patients, palmar and/or plantar pits in 4 patients" "" "" "" "" "" "" "" "" "" "" "" "0000049971" "01191" "00063400" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049972" "05150" "00063401" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049973" "01192" "00063402" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049974" "01191" "00063403" "00125" "Unknown" "24y" "multiple keratocysts, and basal cell carcinomas." "" "" "" "" "" "" "" "" "" "" "" "0000049975" "01191" "00063404" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049976" "01191" "00063405" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049977" "05154" "00063406" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049978" "01191" "00063407" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049979" "05155" "00063408" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049980" "01191" "00063409" "00125" "Isolated (sporadic)" "" "eleven BCCs" "" "30y" "" "" "" "" "" "" "" "" "" "0000049981" "01191" "00063410" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049982" "01191" "00063411" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049983" "05150" "00063412" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049984" "01191" "00063413" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049985" "01191" "00063414" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049986" "01191" "00063415" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049987" "01191" "00063416" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049988" "01191" "00063417" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049989" "01191" "00063418" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049990" "01191" "00063419" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049991" "01191" "00063420" "00125" "Unknown" "" "multiple basal cell carcinomas, palmar and plantar pitting, jaw keratocysts and cleft lip." "" "" "" "" "" "" "" "" "" "" "" "0000049992" "01191" "00063421" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049993" "01191" "00063422" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049994" "05150" "00063423" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049995" "05150" "00063424" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049996" "01191" "00063425" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049997" "01191" "00063426" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049998" "01191" "00063427" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000049999" "01191" "00063428" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050000" "01191" "00063429" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050001" "01191" "00063430" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050002" "05150" "00063431" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050003" "01191" "00063432" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050004" "01191" "00063433" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050005" "01191" "00063434" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050006" "01191" "00063435" "00125" "Isolated (sporadic)" "" "BCCs, odontogenic keratocysts, palmar and/or plantar pits." "" "" "" "" "" "" "" "" "" "" "" "0000050007" "01191" "00063436" "00125" "Unknown" "" "Dense calcification of falx, multiple BCC, keratocysts, palmar pits, bifid rib." "" "" "" "" "" "" "" "" "" "" "" "0000050008" "01191" "00063437" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050009" "01191" "00063438" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050011" "01191" "00063440" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050012" "01191" "00063441" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050013" "01191" "00063442" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050014" "01191" "00063443" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050015" "01191" "00063444" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050016" "01191" "00063445" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050017" "01191" "00063446" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050018" "01191" "00063447" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050019" "01191" "00063448" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050020" "05150" "00063449" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050021" "01191" "00063450" "00125" "Unknown" "07y" "Medulloblastoma, BCCs, frontal bossing, broad nasal bridge, hypertelorism and palmoplantar pitting." "" "00y09m" "" "" "" "" "" "" "" "" "" "0000050022" "01191" "00063451" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050023" "05150" "00063452" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050025" "01191" "00063454" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050026" "01191" "00063455" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050027" "01191" "00063456" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050028" "01191" "00063457" "00125" "Isolated (sporadic)" "" "multiple jaw cysts, facial dysmorphism, scoliosis, hypertelorism, palmar and plantar pits, as well as multiple BCCs." "" "" "" "" "" "" "" "" "" "" "" "0000050029" "01191" "00063458" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050030" "01191" "00063459" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050031" "01191" "00063460" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050032" "01191" "00063461" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050033" "01191" "00063462" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050034" "01191" "00063463" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050035" "01191" "00063464" "00125" "Isolated (sporadic)" "" "Dense calcification of falx, multiple BCC, keratocysts, palmar and plantar pits, macrocephaly." "" "" "" "" "" "" "" "" "" "" "" "0000050036" "01191" "00063465" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050037" "01191" "00063466" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050038" "01191" "00063467" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050039" "01191" "00063468" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050040" "01191" "00063469" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050041" "01191" "00063470" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050042" "01191" "00063471" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050043" "01191" "00063472" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050044" "05150" "00063473" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050045" "01191" "00063474" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050046" "01191" "00063475" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050047" "01191" "00063476" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050048" "01191" "00063477" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050049" "01191" "00063478" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050050" "01191" "00063479" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050051" "01191" "00063480" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050052" "01191" "00063481" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050053" "01191" "00063482" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050054" "01191" "00063483" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050055" "01191" "00063484" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050056" "01191" "00063485" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050057" "01191" "00063486" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050058" "01191" "00063487" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050059" "01191" "00063488" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050060" "01191" "00063489" "00125" "Isolated (sporadic)" "" "Dense calcification of falx, multiple BCC, keratocysts, palmar and plantar pits, macrocephaly, polydactyly, epidermal cyst." "" "" "" "" "" "" "" "" "" "" "" "0000050061" "01191" "00063490" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050062" "01191" "00063491" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050063" "01191" "00063492" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050064" "01191" "00063493" "00125" "Familial, autosomal dominant" "29y" "BCCs, palmar pits, hypertelorism, frontal bossing, calcification of the falx cerebri and tentorium cerebelli, jaw cysts." "20y" "" "" "" "" "" "" "" "" "" "" "0000050065" "01191" "00063494" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050066" "01191" "00063495" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050067" "01191" "00063496" "00125" "Isolated (sporadic)" "18y" "BCCs at age 6 and jaw cysts at age 8, palmar and plantar pits, pectus carinatum (chest displacement), and rib abnormalities" "06y" "" "" "" "" "" "" "" "" "" "" "0000050068" "01191" "00063497" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050069" "01191" "00063498" "00125" "Familial, autosomal dominant" "" "BCC in 7 patients, odontogenic keratocysts in 7 patients, palmar and/or plantar pits in 8 patients." "" "" "" "" "" "" "" "" "" "" "" "0000050070" "01191" "00063499" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050071" "01191" "00063500" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050072" "01191" "00063501" "00125" "Unknown" "22y" "Nistagmo, keratocysts, basal cell carcinomas, frontal bossing, scoliosis, palmar and plantar pits and ovarian fibromas." "09y" "" "" "" "" "" "" "" "" "" "" "0000050073" "01191" "00063502" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050074" "01191" "00063503" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050075" "01191" "00063504" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050076" "01191" "00063505" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050077" "01191" "00063506" "00125" "Unknown" "" "Multiple BCC, keratocysts, palmar pitting, epidermal cysts, high arched palate, macrocephaly (no radiological examination)." "" "" "" "" "" "" "" "" "" "" "" "0000050078" "01191" "00063507" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050079" "01191" "00063508" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050080" "01191" "00063509" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050081" "01191" "00063510" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050082" "01191" "00063511" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050083" "01191" "00063512" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050084" "01191" "00063513" "00125" "Unknown" "" "macrocephaly, hypertelorism, supra-orbital ridges, prognathism, plantar but not palmar pitting and an accessory nipple, three maxillary and mandibular odontogenic keratocysts." "" "12y" "" "" "" "" "" "" "" "" "" "0000050085" "01191" "00063514" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050086" "01191" "00063515" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050087" "01191" "00063516" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050088" "01191" "00063517" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050089" "01191" "00063518" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050090" "05150" "00063519" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050091" "01191" "00063520" "00125" "Familial, autosomal dominant" "" "10 BCCs, 2 jaw cysts" "" "" "" "" "" "" "" "" "" "" "" "0000050092" "01191" "00063521" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050093" "01191" "00063522" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050094" "01191" "00063523" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050095" "01191" "00063524" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050096" "01191" "00063525" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050097" "01191" "00063526" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050098" "01191" "00063527" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050099" "01191" "00063528" "00125" "Familial, autosomal dominant" "" "" "" "38y" "" "" "" "" "" "" "" "" "" "0000050100" "01191" "00063529" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050101" "01191" "00063530" "00125" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050102" "01191" "00063531" "00125" "Isolated (sporadic)" "" "Multiple BCC, keratocysts, palmar and plantar pits, macrocephaly, epidermal cysts." "" "" "" "" "" "" "" "" "" "" "" "0000050103" "01191" "00063532" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050104" "01191" "00063533" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050105" "01191" "00063534" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050106" "01191" "00063535" "00125" "Unknown" "" "" "" "42y" "" "" "" "" "" "" "" "" "" "0000050107" "01191" "00063536" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050108" "01191" "00063537" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050109" "01191" "00063538" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050110" "01191" "00063539" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050111" "01191" "00063540" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050112" "01191" "00063541" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050113" "01191" "00063542" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050114" "01191" "00063543" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050115" "01191" "00063544" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050116" "01191" "00063545" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050117" "01191" "00063546" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050118" "05150" "00063547" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050119" "01191" "00063548" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050120" "01191" "00063549" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050121" "01191" "00063550" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050122" "01191" "00063551" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050123" "01191" "00063552" "00125" "Unknown" "31y" "odontogenic keratocyst, BCCs, frontal bossing, broad nasal bridge, hypertelorism, and palmar pits." "30y" "" "" "" "" "" "" "" "" "" "" "0000050124" "01191" "00063553" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050125" "01191" "00063554" "00125" "Unknown" "" "Dense calcification of falx, multiple BCC, keratocysts, palmar pits, macrocephaly, epidermal cysts." "" "" "" "" "" "" "" "" "" "" "" "0000050126" "01191" "00063555" "00125" "Unknown" "" "Dense calcification of falx, multiple BCC, keratocysts, palmar and plantar pits, polydactyly, high arched palate, epidermal cysts." "" "" "" "" "" "" "" "" "" "" "" "0000050127" "01191" "00063556" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050128" "01191" "00063557" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050129" "01191" "00063558" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050130" "01191" "00063559" "00125" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050131" "01191" "00063560" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050132" "01191" "00063561" "00125" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050133" "01191" "00063562" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050134" "01191" "00063563" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050135" "01191" "00063564" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050136" "01191" "00063565" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050137" "01191" "00063566" "00125" "Familial, autosomal dominant" "09y" "Keratocysts, several pigmented nevi, macrocephaly, frontal bossing, hypertelorism, divergent strabismus, mild pectus excavatum, palmoplantar pits." "08y" "" "" "" "" "" "" "" "" "" "" "0000050138" "01191" "00063567" "00125" "Familial, autosomal dominant" "49y" "" "" "49y" "" "" "" "" "" "" "" "" "" "0000050139" "01191" "00063568" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050140" "05150" "00063569" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050141" "01191" "00063570" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050142" "01191" "00063571" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050143" "01191" "00063572" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050144" "01191" "00063573" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050145" "01191" "00063574" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050146" "01191" "00063575" "00125" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050147" "01191" "00063576" "00125" "Familial, autosomal dominant" "" "several BCCs and keratocysts" "" "" "" "" "" "" "" "" "" "" "" "0000050148" "01191" "00063577" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050149" "01191" "00063578" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050150" "01191" "00063579" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050151" "01191" "00063580" "00125" "Unknown" "" "frontal bossing, hypertelorism, falcine calcification and bifid 3rd, 4th, 5th and\r\n6th ribs and five maxillary and mandibular odontogenic keratocysts." "" "18y" "" "" "" "" "" "" "" "" "" "0000050152" "01191" "00063581" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050153" "01191" "00063582" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050154" "05150" "00063583" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050155" "01191" "00063584" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050156" "01429" "00063585" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050157" "01191" "00063586" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050158" "01191" "00063587" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050159" "01191" "00063588" "00125" "Familial, autosomal dominant" "" "BCCs" "" "" "" "" "" "" "" "" "" "" "" "0000050160" "01191" "00063589" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050161" "01191" "00063590" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050162" "01191" "00063591" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050163" "01191" "00063592" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050164" "01191" "00063593" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050165" "01191" "00063594" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050166" "01191" "00063595" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050167" "01191" "00063596" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050168" "01191" "00063597" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050169" "01191" "00063598" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050170" "01191" "00063599" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050171" "01191" "00063600" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050172" "01191" "00063601" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050173" "01191" "00063602" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050174" "00010" "00063603" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050175" "01191" "00063604" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050176" "01191" "00063605" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050177" "01191" "00063606" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050178" "01191" "00063607" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050179" "01191" "00063608" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050180" "01191" "00063609" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050181" "01191" "00063610" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050182" "01191" "00063611" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050183" "01191" "00063612" "00125" "Familial, autosomal dominant" "33y" "100 BCCs, 10 keratocysts, palmar and plantar pits, calcification falx cerebri, hypertelorism, enlarged head circumference with prominent frontal bossing, scoliosis, pectus excavatus and bifid ribs." "" "" "" "" "" "" "" "" "" "" "" "0000050184" "01191" "00063613" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050185" "01191" "00063614" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050186" "01191" "00063615" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050187" "01191" "00063616" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050188" "01191" "00063617" "00125" "Isolated (sporadic)" "" "probably germinal mosaicism in one of the parents" "" "" "" "" "" "" "" "" "" "" "" "0000050189" "01191" "00063618" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050190" "01191" "00063619" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050191" "01191" "00063620" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050192" "00198" "00063621" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050193" "01191" "00063622" "00125" "Isolated (sporadic)" "" "multiple basal cell carcinomas, palmar and plantar pitting, jaw keratocysts, dense falcine calcification, macrocephaly and bifid ribs." "" "" "" "" "" "" "" "" "" "" "" "0000050194" "01191" "00063623" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050195" "00010" "00063624" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050196" "01191" "00063625" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050197" "01191" "00063626" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050198" "01191" "00063627" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050199" "01191" "00063628" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050200" "01191" "00063629" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053224" "01191" "00036599" "01164" "Unknown" "" "suspected Goltz-Gorlin-Syndrom" "" "" "" "" "" "" "" "" "" "" "" "0000060364" "00103" "00080795" "01758" "Isolated (sporadic)" "" "Mental retardation with language impairment and with or without autistic features (OMIM: 613670)" "" "" "" "" "" "" "" "" "" "" "" "0000060673" "01191" "00080795" "01758" "Isolated (sporadic)" "" "Basal cell nevus syndrome (OMIM: 109400)" "" "" "" "" "" "" "" "" "" "" "" "0000061316" "01191" "00081549" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000066569" "02551" "00086968" "00125" "Unknown" "" "multiple BBCs" "" "36.6y" "" "" "" "" "" "" "" "" "" "0000066570" "01191" "00086969" "00125" "Unknown" "" "basal cell nevus syndrome" "" "38.0y" "" "" "" "" "" "" "" "" "" "0000066571" "01191" "00086970" "00125" "Unknown" "" "basal cell nevus syndrome" "" "11.4y" "" "" "" "" "" "" "" "" "" "0000066572" "00198" "00086971" "00125" "Familial, autosomal dominant" "" "?" "" "56.6y" "" "" "" "" "" "" "" "" "" "0000066573" "01191" "00086972" "00125" "Unknown" "" "basal cell nevus syndrome" "" "36.7y" "" "" "" "" "" "" "" "" "" "0000066574" "01191" "00086973" "00125" "Unknown" "" "basal cell nevus syndrome" "" "35.1y" "" "" "" "" "" "" "" "" "" "0000066575" "01191" "00086974" "00125" "Unknown" "" "basal cell nevus syndrome" "" "8.4y" "" "" "" "" "" "" "" "" "" "0000066576" "01191" "00086975" "00125" "Unknown" "" "basal cell nevus syndrome" "" "5.4y" "" "" "" "" "" "" "" "" "" "0000066577" "01191" "00086976" "00125" "Unknown" "" "basal cell nevus syndrome" "" "1.1y" "" "" "" "" "" "" "" "" "" "0000066578" "01901" "00086977" "00125" "Familial, autosomal dominant" "" "macrocephaly" "" "22.3y" "" "" "" "" "" "" "" "" "" "0000066579" "01191" "00086978" "00125" "Unknown" "" "basal cell nevus syndrome" "" "23.9y" "" "" "" "" "" "" "" "" "" "0000066580" "01191" "00086979" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "33.1y" "" "" "" "" "" "" "" "" "" "0000066581" "01191" "00086980" "00125" "Unknown" "" "basal cell nevus syndrome" "" "35.1y" "" "" "" "" "" "" "" "" "" "0000066582" "01191" "00086981" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "32.3y" "" "" "" "" "" "" "" "" "" "0000066583" "01191" "00086982" "00125" "Unknown" "" "basal cell nevus syndrome" "" "55.5y" "" "" "" "" "" "" "" "" "" "0000066584" "01191" "00086983" "00125" "Unknown" "" "basal cell nevus syndrome" "" "8.3y" "" "" "" "" "" "" "" "" "" "0000066585" "01191" "00086984" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "31.0y" "" "" "" "" "" "" "" "" "" "0000066586" "00198" "00086985" "00125" "Familial, autosomal dominant" "" "keratocysts" "" "13.3y" "" "" "" "" "" "" "" "" "" "0000066587" "01191" "00086986" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "7.4y" "" "" "" "" "" "" "" "" "" "0000066588" "01191" "00086987" "00125" "Unknown" "" "basal cell nevus syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000066589" "01191" "00086988" "00125" "Unknown" "" "basal cell nevus syndrome" "" "24.0y" "" "" "" "" "" "" "" "" "" "0000066590" "02551" "00086989" "00125" "Unknown" "" "multiple BBCs" "" "59.7y" "" "" "" "" "" "" "" "" "" "0000066591" "01191" "00086990" "00125" "Unknown" "" "basal cell nevus syndrome" "" "47.9y" "" "" "" "" "" "" "" "" "" "0000066593" "01191" "00086992" "00125" "Unknown" "" "basal cell nevus syndrome" "" "40.3y" "" "" "" "" "" "" "" "" "" "0000066594" "01191" "00086993" "00125" "Unknown" "" "basal cell nevus syndrome" "" "27.3y" "" "" "" "" "" "" "" "" "" "0000066595" "01191" "00086994" "00125" "Unknown" "" "basal cell nevus syndrome" "" "0y" "" "" "" "" "" "" "" "" "" "0000066596" "02551" "00086995" "00125" "Unknown" "" "multipele BCCs, familiar BCCs" "" "39.2y" "" "" "" "" "" "" "" "" "" "0000066597" "01191" "00086996" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "27.1y" "" "" "" "" "" "" "" "" "" "0000066598" "01191" "00086997" "00125" "Unknown" "" "basal cell nevus syndrome" "" "2.7y" "" "" "" "" "" "" "" "" "" "0000066599" "01191" "00086998" "00125" "Unknown" "" "basal cell nevus syndrome" "" "51.2y" "" "" "" "" "" "" "" "" "" "0000066600" "02551" "00086999" "00125" "Unknown" "" "multiple BCCs (>100), calcification falx cerebri" "" "31.1y" "" "" "" "" "" "" "" "" "" "0000066601" "01191" "00087000" "00125" "Unknown" "" "basal cell nevus syndrome" "" "23.0y" "" "" "" "" "" "" "" "" "" "0000066602" "01191" "00087001" "00125" "Unknown" "" "basal cell nevus syndrome" "" "8.3y" "" "" "" "" "" "" "" "" "" "0000066603" "01191" "00087002" "00125" "Unknown" "" "basal cell nevus syndrome" "" "43.0y" "" "" "" "" "" "" "" "" "" "0000066604" "01191" "00087003" "00125" "Unknown" "" "basal cell nevus syndrome" "" "33.0y" "" "" "" "" "" "" "" "" "" "0000066605" "01191" "00087004" "00125" "Unknown" "" "basal cell nevus syndrome" "" "16.4y" "" "" "" "" "" "" "" "" "" "0000066606" "01191" "00087005" "00125" "Unknown" "" "basal cell nevus syndrome" "" "17.1y" "" "" "" "" "" "" "" "" "" "0000066607" "01191" "00087006" "00125" "Unknown" "" "basal cell nevus syndrome" "" "67.7y" "" "" "" "" "" "" "" "" "" "0000066608" "01191" "00087007" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "24.4y" "" "" "" "" "" "" "" "" "" "0000066609" "01191" "00087008" "00125" "Unknown" "" "basal cell nevus syndrome" "" "25.1y" "" "" "" "" "" "" "" "" "" "0000066610" "02551" "00087009" "00125" "Unknown" "" "multiple BBCs" "" "70.3y" "" "" "" "" "" "" "" "" "" "0000066611" "00198" "00087010" "00125" "Unknown" "" "keratocysts" "" "15.5y" "" "" "" "" "" "" "" "" "" "0000066612" "01901" "00087011" "00125" "Unknown" "" "macrocephaly, keratocyst" "" "14.9y" "" "" "" "" "" "" "" "" "" "0000066613" "01191" "00087012" "00125" "Unknown" "" "basal cell nevus syndrome" "" "69.4y" "" "" "" "" "" "" "" "" "" "0000066614" "01191" "00087013" "00125" "Unknown" "" "basal cell nevus syndrome" "" "38.9y" "" "" "" "" "" "" "" "" "" "0000066615" "01191" "00087014" "00125" "Unknown" "" "basal cell nevus syndrome" "" "28.2y" "" "" "" "" "" "" "" "" "" "0000066616" "01191" "00087015" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "56.7y" "" "" "" "" "" "" "" "" "" "0000066617" "01191" "00087016" "00125" "Unknown" "" "basal cell nevus syndrome" "" "42.4y" "" "" "" "" "" "" "" "" "" "0000066618" "01191" "00087017" "00125" "Unknown" "" "basal cell nevus syndrome" "" "46.7y" "" "" "" "" "" "" "" "" "" "0000066619" "01191" "00087018" "00125" "Unknown" "" "basal cell nevus syndrome" "" "11.5y" "" "" "" "" "" "" "" "" "" "0000066620" "01191" "00087019" "00125" "Unknown" "" "basal cell nevus syndrome" "" "22.6y" "" "" "" "" "" "" "" "" "" "0000066621" "01191" "00087020" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "31.0y" "" "" "" "" "" "" "" "" "" "0000066622" "01191" "00087021" "00125" "Unknown" "" "basal cell nevus syndrome" "" "19.7y" "" "" "" "" "" "" "" "" "" "0000066623" "01191" "00087022" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "35.0y" "" "" "" "" "" "" "" "" "" "0000066624" "01191" "00087023" "00125" "Unknown" "" "basal cell nevus syndrome" "" "7.1y" "" "" "" "" "" "" "" "" "" "0000066625" "01191" "00087024" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "28.5y" "" "" "" "" "" "" "" "" "" "0000066626" "01191" "00087025" "00125" "Unknown" "" "basal cell nevus syndrome" "" "42.2y" "" "" "" "" "" "" "" "" "" "0000066627" "01191" "00087026" "00125" "Unknown" "" "basal cell nevus syndrome" "" "26y" "" "" "" "" "" "" "" "" "" "0000066628" "01191" "00087027" "00125" "Unknown" "" "basal cell nevus syndrome" "" "14.1y" "" "" "" "" "" "" "" "" "" "0000066629" "01191" "00087028" "00125" "Unknown" "" "basal cell nevus syndrome" "" "52.0y" "" "" "" "" "" "" "" "" "" "0000066630" "01191" "00087029" "00125" "Unknown" "" "basal cell nevus syndrome" "" "9.7y" "" "" "" "" "" "" "" "" "" "0000066631" "01191" "00087030" "00125" "Unknown" "" "basal cell nevus syndrome" "" "1.2y" "" "" "" "" "" "" "" "" "" "0000066632" "01191" "00087031" "00125" "Unknown" "" "basal cell nevus syndrome" "" "24.4y" "" "" "" "" "" "" "" "" "" "0000066633" "01191" "00087032" "00125" "Unknown" "" "basal cell nevus syndrome" "" "14.5y" "" "" "" "" "" "" "" "" "" "0000066634" "01191" "00087033" "00125" "Unknown" "" "basal cell nevus syndrome" "" "52.1y" "" "" "" "" "" "" "" "" "" "0000066635" "01191" "00087034" "00125" "Unknown" "" "basal cell nevus syndrome" "" "27.9y" "" "" "" "" "" "" "" "" "" "0000066636" "01191" "00087035" "00125" "Unknown" "" "basal cell nevus syndrome" "" "6.2y" "" "" "" "" "" "" "" "" "" "0000066637" "01191" "00087036" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "47.9y" "" "" "" "" "" "" "" "" "" "0000066638" "01191" "00087037" "00125" "Unknown" "" "basal cell nevus syndrome" "" "52.4y" "" "" "" "" "" "" "" "" "" "0000066639" "01191" "00087038" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "40.3y" "" "" "" "" "" "" "" "" "" "0000066640" "01191" "00087039" "00125" "Unknown" "" "basal cell nevus syndrome" "" "14.1y" "" "" "" "" "" "" "" "" "" "0000066641" "01191" "00087040" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "21.0y" "" "" "" "" "" "" "" "" "" "0000066642" "01191" "00087041" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "0.6y" "" "" "" "" "" "" "" "" "" "0000066643" "01191" "00087042" "00125" "Unknown" "" "basal cell nevus syndrome" "" "15.8y" "" "" "" "" "" "" "" "" "" "0000066644" "01191" "00087043" "00125" "Unknown" "" "basal cell nevus syndrome" "" "13.8y" "" "" "" "" "" "" "" "" "" "0000066645" "01191" "00087044" "00125" "Unknown" "" "basal cell nevus syndrome" "" "23.1y" "" "" "" "" "" "" "" "" "" "0000066646" "02551" "00087045" "00125" "Familial, autosomal dominant" "" "multiple BBCs" "" "43.3y" "" "" "" "" "" "" "" "" "" "0000066647" "01191" "00087046" "00125" "Unknown" "" "basal cell nevus syndrome" "" "33.2y" "" "" "" "" "" "" "" "" "" "0000066648" "01191" "00087047" "00125" "Unknown" "" "basal cell nevus syndrome" "" "9.3y" "" "" "" "" "" "" "" "" "" "0000066649" "01191" "00087048" "00125" "Unknown" "" "basal cell nevus syndrome" "" "11y" "" "" "" "" "" "" "" "" "" "0000066650" "01191" "00087049" "00125" "Unknown" "" "basal cell nevus syndrome" "" "54.4y" "" "" "" "" "" "" "" "" "" "0000066651" "00198" "00087050" "00125" "Familial, autosomal dominant" "" "keratocysts" "" "29.9y" "" "" "" "" "" "" "" "" "" "0000066652" "01191" "00087051" "00125" "Unknown" "" "basal cell nevus syndrome" "" "41.8y" "" "" "" "" "" "" "" "" "" "0000066653" "01901" "00087052" "00125" "Unknown" "" "keratocysts, macrocrany, mental retardation" "" "6.7y" "" "" "" "" "" "" "" "" "" "0000066654" "01191" "00087053" "00125" "Unknown" "" "basal cell nevus syndrome" "" "30.9y" "" "" "" "" "" "" "" "" "" "0000066655" "01191" "00087054" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "23.5y" "" "" "" "" "" "" "" "" "" "0000066656" "01191" "00087055" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "17.7y" "" "" "" "" "" "" "" "" "" "0000066657" "01191" "00087056" "00125" "Unknown" "" "basal cell nevus syndrome" "" "14.9y" "" "" "" "" "" "" "" "" "" "0000066658" "01191" "00087057" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "26.1y" "" "" "" "" "" "" "" "" "" "0000066659" "01191" "00087058" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "22.9y" "" "" "" "" "" "" "" "" "" "0000066660" "00198" "00087059" "00125" "Unknown" "" "?" "" "14.7y" "" "" "" "" "" "" "" "" "" "0000066661" "01191" "00087060" "00125" "Unknown" "" "basal cell nevus syndrome" "" "13.6y" "" "" "" "" "" "" "" "" "" "0000066662" "01191" "00087061" "00125" "Unknown" "" "basal cell nevus syndrome" "" "10.7y" "" "" "" "" "" "" "" "" "" "0000066663" "01191" "00087062" "00125" "Unknown" "" "basal cell nevus syndrome" "" "28.8y" "" "" "" "" "" "" "" "" "" "0000066664" "01191" "00087063" "00125" "Unknown" "" "basal cell nevus syndrome" "" "12.3y" "" "" "" "" "" "" "" "" "" "0000066665" "01191" "00087064" "00125" "Unknown" "" "basal cell nevus syndrome" "" "11.7y" "" "" "" "" "" "" "" "" "" "0000066666" "01191" "00087065" "00125" "Unknown" "" "basal cell nevus syndrome" "" "14.1y" "" "" "" "" "" "" "" "" "" "0000066667" "01191" "00087066" "00125" "Unknown" "" "basal cell nevus syndrome" "" "63.8y" "" "" "" "" "" "" "" "" "" "0000066668" "01191" "00087067" "00125" "Unknown" "" "basal cell nevus syndrome" "" "21.5y" "" "" "" "" "" "" "" "" "" "0000066669" "01191" "00087068" "00125" "Unknown" "" "basal cell nevus syndrome" "" "25.8y" "" "" "" "" "" "" "" "" "" "0000066670" "01191" "00087069" "00125" "Unknown" "" "basal cell nevus syndrome" "" "43.8y" "" "" "" "" "" "" "" "" "" "0000066671" "01191" "00087070" "00125" "Unknown" "" "basal cell nevus syndrome" "" "31.1y" "" "" "" "" "" "" "" "" "" "0000066672" "01191" "00087071" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "2.6y" "" "" "" "" "" "" "" "" "" "0000066673" "01191" "00087072" "00125" "Familial, autosomal dominant" "" "basal cell nevus syndrome" "" "14.2y" "" "" "" "" "" "" "" "" "" "0000066674" "01191" "00087073" "00125" "Unknown" "" "basal cell nevus syndrome" "" "19.9y" "" "" "" "" "" "" "" "" "" "0000066675" "01191" "00087074" "00125" "Unknown" "" "basal cell nevus syndrome" "" "37.1y" "" "" "" "" "" "" "" "" "" "0000069485" "01191" "00090112" "00125" "Familial, autosomal dominant" "" "BCCs in 3 patients, odontogenic keratocysts in 7 patients, palmar and/or plantar pits in 7 patients, rib anomalies in 2 patients." "" "" "" "" "" "" "" "" "" "" "" "0000069490" "01191" "00090117" "00125" "Isolated (sporadic)" "08y" "Multiple BCCs, hypertelorism, bifid ribs, medulloblastoma, palmar and plantar pits, mild mental retardation." "05y" "" "" "" "" "" "" "" "" "" "" "0000069491" "01191" "00090118" "00125" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069508" "01191" "00090150" "00125" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069509" "01191" "00090156" "00125" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069510" "01191" "00090160" "00125" "Isolated (sporadic)" "" "Calcification of falx, keratocysts, plantar pit, macrocephaly, high arched palate." "" "" "" "" "" "" "" "" "" "" "" "0000069511" "01191" "00090164" "00125" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069598" "01191" "00090260" "00125" "Isolated (sporadic)" "" "Dense calcification of falx, multiple BCC, keratocysts, palmar and plantar pits, macrocephaly, high arched palate, epidermal cyst." "" "" "" "" "" "" "" "" "" "" "" "0000069599" "01191" "00090261" "00125" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000069602" "05209" "00090264" "00125" "Unknown" "" "Microphthalmia, cataract, sclerocornea" "" "" "" "" "" "" "" "" "" "" "" "0000069677" "05209" "00090967" "00125" "Familial, autosomal dominant" "" "colobomatous microphthalmia, corpus callosum abnormality and atrial septel defects." "" "" "" "" "" "" "" "" "" "" "" "0000069678" "05209" "00090968" "00125" "Familial, autosomal dominant" "" "colobomatous microphthalmia, corpus callosum abnormality and atrial septel defects." "" "" "" "" "" "" "" "" "" "" "" "0000069743" "05209" "00091296" "00125" "Familial, autosomal dominant" "" "bilateral Axenfeld-Rieger malformation" "" "" "" "" "" "" "" "" "" "" "" "0000069744" "05209" "00091297" "00125" "Familial, autosomal dominant" "" "bilateral Peters anomaly" "" "" "" "" "" "" "" "" "" "" "" "0000069745" "05209" "00091298" "00125" "Familial, autosomal dominant" "" "autosomal dominant AM-ASD" "" "" "" "" "" "" "" "" "" "" "" "0000069746" "05209" "00091299" "00125" "Familial, autosomal dominant" "" "bilateral Peters anomaly" "" "" "" "" "" "" "" "" "" "" "" "0000073812" "01191" "00095412" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078556" "01191" "00100334" "00125" "Familial, autosomal dominant" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "0000078557" "01191" "00100335" "00125" "Unknown" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "0000078558" "01191" "00100336" "00125" "Unknown" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "0000078559" "02551" "00100337" "00125" "Unknown" "14y" "BBC at young age" "" "" "" "" "" "" "" "" "" "" "" "0000078560" "02551" "00100338" "00125" "Unknown" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "0000079476" "01191" "00101227" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104228" "05333" "00131885" "02232" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156592" "00198" "00036603" "01164" "Unknown" "" "Clinically Gorlin-Goltz syndrome, Hypertelorism, Strabism, facial Dysmorphy, Ptosis, short stature" "" "" "" "" "" "" "" "" "" "Gorlin-Goltz syndrome" "" "0000156594" "00198" "00036608" "01164" "Unknown" "" "suspected Goltz-Gorlin syndrome" "" "" "" "" "" "" "" "" "" "suspected Goltz-Gorlin syndrome?" "" "0000156596" "00198" "00036613" "01164" "Unknown" "" "suspected Goltz-Gorlin syndrome, basalioma" "" "" "" "" "" "" "" "" "" "suspected Goltz-Gorlin syndrome?" "" "0000156597" "00198" "00036614" "01164" "Unknown" "" "suspected Goltz-Gorlin syndrome" "" "" "" "" "" "" "" "" "" "suspected Goltz-Gorlin syndrome?" "" "0000156598" "00198" "00036615" "01164" "Unknown" "" "BCNS, brain tumour; other patient: suspected Gorlin syndrome" "" "" "" "" "" "" "" "" "" "brain tumor" "" "0000156599" "00198" "00036616" "01164" "Unknown" "" "suspected Goltz-Gorlin syndrome" "" "" "" "" "" "" "" "" "" "suspected Goltz-Gorlin syndrome?" "" "0000210205" "00198" "00275585" "01807" "Unknown" "" "Macrocephaly (HP:0000256); Abnormal location of ears (HP:0000357); Low-set ears (HP:0000369)" "" "" "" "" "" "" "" "" "" "" "" "0000210593" "00198" "00276037" "01807" "Unknown" "" "Macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "" "0000226762" "00198" "00299452" "01164" "Unknown" "" "Hydrocephalus (HP:0000238); Preaxial hand polydactyly (HP:0001177); Abnormality of nervous system physiology (HP:0012638); Abnormality of the skeletal system (HP:0000924)" "" "" "" "" "" "" "" "" "" "" "" "0000299188" "00438" "00406738" "00006" "Familial, autosomal recessive" "" "see paper; ..., no hydrocephalus, severe holoprosencephaly, cyclopia, proboscis, cleft lip, congenital heart disease" "" "" "" "" "" "" "" "" "" "holoprosencephaly" "" "0000299190" "00438" "00406740" "00006" "Familial, autosomal recessive" "" "see paper; ..., hydrocephalus, severe holoprosencephaly, cyclopia, proboscis, cleft lip, congenital heart disease" "" "" "" "" "" "" "" "" "" "holoprosencephaly" "" "0000307794" "01191" "00416028" "00006" "Familial, autosomal dominant" "" "see paper; ..., Gorlin-Goltz syndrome, basal cell carcinoma skin, palmar or plantar pitting, history of multiple cystic tumours removed from the maxilla (most probably keratogenic odontogenic tumours); MRI brain calcifications falx cerebri; macrocephaly, hypertelorism; bilateral giant tumours adjacent to both adrenals" "" "" "" "" "" "" "" "" "23y" "Gorlin-Goltz syndrome" "" "0000310924" "00198" "00419643" "02300" "Isolated (sporadic)" "16y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" "" "0000325043" "07009" "00434799" "00006" "Familial, autosomal dominant" "" "congenital hydrocephalus, aqueductal stenosis; mother Gorlin syndrome" "" "" "" "" "" "" "" "" "" "hydrocephalus" "" "0000325044" "07009" "00434800" "00006" "Isolated (sporadic)" "" "congenital hydrocephalus, aqueductal stenosis" "" "" "" "" "" "" "" "" "" "hydrocephalus" "" "0000325045" "07009" "00434801" "00006" "Isolated (sporadic)" "" "congenital hydrocephalus, aqueductal stenosis" "" "" "" "" "" "" "" "" "" "hydrocephalus" "" "0000333043" "01191" "00443352" "04600" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333624" "00402" "00444371" "00006" "Unknown" "15y" "see paper; ..., no microphthalmia; R iris coloboma; L macular and optic disc coloboma" "" "" "" "" "" "" "" "" "" "coloboma" "" ## Screenings ## Do not remove or alter this header ## ## Count = 520 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036669" "00036599" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036673" "00036603" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036677" "00036607" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036678" "00036608" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036683" "00036613" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036684" "00036614" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036685" "00036615" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036686" "00036616" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000056228" "00056272" "1" "00006" "00006" "2015-12-09 07:13:25" "" "" "SEQ;SSCA" "DNA" "" "" "0000056229" "00056276" "1" "00006" "00006" "2015-12-09 07:39:14" "" "" "SEQ" "DNA" "" "" "0000056262" "00056311" "1" "00006" "00006" "2015-12-10 07:25:47" "" "" "SEQ;SSCA" "DNA" "" "" "0000056263" "00056312" "1" "00006" "00006" "2015-12-10 07:42:55" "" "" "SEQ;SSCA" "DNA" "" "" "0000056264" "00056313" "1" "00006" "00006" "2015-12-10 07:55:31" "" "" "SEQ;SSCA" "DNA" "" "" "0000056265" "00056315" "1" "00006" "00006" "2015-12-10 12:33:49" "" "" "SEQ;SSCA" "DNA" "" "" "0000056331" "00056314" "1" "00006" "00006" "2015-12-13 01:12:52" "" "" "SEQ;SSCA" "DNA" "" "" "0000056332" "00056275" "1" "00006" "00006" "2015-12-13 01:19:44" "" "" "SEQ;SSCA" "DNA" "" "" "0000056333" "00056274" "1" "00006" "00006" "2015-12-13 01:30:50" "" "" "SEQ;SSCA" "DNA" "" "" "0000056334" "00056273" "1" "00006" "00006" "2015-12-13 01:39:14" "" "" "SEQ;SSCA" "DNA" "" "" "0000063429" "00063298" "1" "00125" "00006" "2016-03-08 13:18:23" "" "" "SEQ" "DNA" "" "" "0000063430" "00063299" "1" "00125" "00006" "2016-03-08 13:18:23" "" "" "SEQ" "DNA" "" "" "0000063431" "00063300" "1" "00125" "00006" "2016-03-08 13:18:23" "" "" "SEQ" "DNA" "" "" "0000063432" "00063301" "1" "00125" "00006" "2016-03-08 13:18:23" "" "" "SEQ" "DNA" "" "" "0000063433" "00063302" "1" "00125" "00006" "2016-03-08 13:18:23" "" "" "SEQ" "DNA" "" "" "0000063434" "00063303" "1" "00125" "00006" "2016-03-08 13:18:23" "" "" "SEQ" "DNA" "" "" "0000063435" "00063304" "1" "00125" "00006" 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"00100267" "1" "00125" "00125" "2017-02-10 10:31:41" "" "" "SEQ" "DNA" "" "" "0000100671" "00100268" "1" "00125" "00125" "2017-02-10 11:42:45" "" "" "SEQ" "DNA" "" "" "0000100672" "00100269" "1" "00125" "00125" "2017-02-10 11:47:51" "" "" "MLPA" "DNA" "" "" "0000100737" "00100333" "1" "00125" "00125" "2017-02-11 13:06:51" "" "" "MLPA" "DNA" "" "" "0000100738" "00100334" "1" "00125" "00125" "2017-02-11 13:16:44" "" "" "SEQ" "DNA" "" "" "0000100739" "00100335" "1" "00125" "00125" "2017-02-11 13:24:14" "" "" "SEQ" "DNA" "" "" "0000100740" "00100336" "1" "00125" "00125" "2017-02-11 13:33:12" "" "" "SEQ" "DNA" "" "" "0000100741" "00100337" "1" "00125" "00125" "2017-02-11 14:50:55" "" "" "SEQ" "DNA" "" "" "0000100742" "00100338" "1" "00125" "00125" "2017-02-11 14:54:38" "" "" "SEQ" "DNA" "" "" "0000101080" "00100658" "1" "01741" "01741" "2017-03-09 11:12:46" "" "" "SEQ" "DNA" "" "" "0000101652" "00101227" "1" "01741" "01741" "2017-03-21 15:02:57" "" "" "SEQ" "DNA" "" "" "0000132721" "00131885" "1" "02232" "02232" "2017-09-25 10:35:06" "" "" "SEQ;SEQ-NG" "DNA" "PBMC" "" "0000164858" "00163992" "1" "01741" "01741" "2018-05-04 11:00:23" "" "" "MLPA" "DNA" "" "" "0000272628" "00271474" "1" "02061" "02061" "2019-12-19 17:31:04" "" "" "SEQ-NG-IT" "DNA" "" "WES" "0000276743" "00275585" "1" "01807" "01807" "2020-01-09 21:03:45" "" "" "SEQ" "DNA" "" "" "0000277184" "00276037" "1" "01807" "01807" "2020-01-24 11:02:35" "" "" "SEQ" "DNA" "" "" "0000296068" "00294900" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296069" "00294901" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296071" "00294903" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296072" "00294904" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296073" "00294905" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296074" "00294906" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296075" "00294907" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296076" "00294908" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296077" "00294909" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296078" "00294910" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300562" "00299452" "1" "01164" "01164" "2020-04-17 09:49:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000306387" "00305258" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306388" "00305259" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308211" "00307069" "1" "03744" "03744" "2020-07-29 08:57:43" "" "" "SEQ-NG-I" "DNA" "Skin" "WGS" "0000308213" "00307071" "1" "03744" "03744" "2020-07-29 13:31:38" "" "" "SEQ-NG-I" "DNA" "Skin" "WGS" "0000308214" "00307072" "1" "03744" "03744" "2020-07-29 14:18:54" "" "" "SEQ-NG-I" "DNA" "Skin" "WGS" "0000308216" "00307074" "1" "03744" "03744" "2020-07-29 15:18:04" "" "" "SEQ-NG-I" "DNA" "Skin" "WGS" "0000309871" "00308726" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000407985" "00406738" "1" "00006" "00006" "2022-04-04 17:47:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000407987" "00406740" "1" "00006" "00006" "2022-04-04 17:50:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408231" "00406985" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000408232" "00406986" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000417308" "00416028" "1" "00006" "00006" "2022-08-22 11:58:14" "00006" "2022-08-22 12:25:40" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420947" "00419643" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436271" "00434799" "1" "00006" "00006" "2023-04-07 13:45:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436272" "00434800" "1" "00006" "00006" "2023-04-07 13:45:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436273" "00434801" "1" "00006" "00006" "2023-04-07 13:45:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444840" "00443352" "1" "04600" "04600" "2023-11-25 17:37:39" "" "" "SEQ" "DNA" "" "" "0000445939" "00444371" "1" "00006" "00006" "2023-12-23 16:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 490 "{{screeningid}}" "{{geneid}}" "0000036669" "PTCH1" "0000036673" "PTCH1" "0000036677" "PTCH1" "0000036678" "PTCH1" "0000036683" "PTCH1" "0000036684" "PTCH1" "0000036685" "PTCH1" "0000036686" "PTCH1" "0000056228" "PTCH1" "0000056229" "PTCH1" "0000056262" "PTCH1" "0000056263" "PTCH1" "0000056264" "PTCH1" "0000056265" "PTCH1" "0000056331" "PTCH1" "0000056332" "PTCH1" "0000056333" "PTCH1" "0000056334" "PTCH1" "0000063429" "PTCH1" "0000063430" "PTCH1" "0000063431" "PTCH1" "0000063432" "PTCH1" "0000063433" "PTCH1" "0000063434" "PTCH1" "0000063435" "PTCH1" "0000063436" "PTCH1" "0000063437" "PTCH1" "0000063438" "PTCH1" "0000063439" "PTCH1" "0000063440" "PTCH1" "0000063441" "PTCH1" "0000063442" "PTCH1" "0000063443" "PTCH1" "0000063444" "PTCH1" "0000063445" "PTCH1" "0000063446" "PTCH1" "0000063447" "PTCH1" "0000063448" "PTCH1" "0000063449" "PTCH1" "0000063450" "PTCH1" "0000063451" "PTCH1" "0000063452" "PTCH1" "0000063453" "PTCH1" "0000063454" "PTCH1" "0000063455" "PTCH1" "0000063456" "PTCH1" "0000063457" "PTCH1" "0000063458" "PTCH1" "0000063459" "PTCH1" "0000063460" "PTCH1" "0000063461" "PTCH1" "0000063462" "PTCH1" "0000063463" "PTCH1" "0000063464" "PTCH1" "0000063465" "PTCH1" "0000063466" "PTCH1" "0000063467" "PTCH1" "0000063468" "PTCH1" "0000063469" "PTCH1" "0000063470" "PTCH1" "0000063471" "PTCH1" "0000063472" "PTCH1" "0000063473" "PTCH1" "0000063474" "PTCH1" "0000063475" "PTCH1" "0000063476" "PTCH1" "0000063477" "PTCH1" "0000063478" "PTCH1" "0000063479" "PTCH1" "0000063480" "PTCH1" "0000063481" "PTCH1" "0000063482" "PTCH1" "0000063483" "PTCH1" "0000063484" "PTCH1" "0000063485" "PTCH1" "0000063486" "PTCH1" "0000063487" "PTCH1" "0000063488" "PTCH1" "0000063489" "PTCH1" "0000063490" "PTCH1" "0000063491" "PTCH1" "0000063492" "PTCH1" "0000063493" "PTCH1" "0000063494" "PTCH1" "0000063495" "PTCH1" "0000063496" "PTCH1" "0000063497" "PTCH1" "0000063498" "PTCH1" "0000063499" "PTCH1" "0000063500" "PTCH1" "0000063501" "PTCH1" "0000063502" "PTCH1" "0000063503" "PTCH1" "0000063504" "PTCH1" "0000063505" "PTCH1" "0000063506" "PTCH1" "0000063507" "PTCH1" "0000063508" "PTCH1" "0000063509" "PTCH1" "0000063510" "PTCH1" "0000063511" "PTCH1" "0000063512" "PTCH1" "0000063513" "PTCH1" "0000063514" "PTCH1" "0000063515" "PTCH1" "0000063516" "PTCH1" "0000063517" "PTCH1" "0000063518" "PTCH1" "0000063519" "PTCH1" "0000063520" "PTCH1" "0000063521" "PTCH1" "0000063522" "PTCH1" "0000063523" "PTCH1" "0000063524" "PTCH1" "0000063525" "PTCH1" "0000063526" "PTCH1" "0000063527" "PTCH1" "0000063528" "PTCH1" "0000063529" "PTCH1" "0000063530" "PTCH1" "0000063531" "PTCH1" "0000063532" "PTCH1" "0000063533" "PTCH1" "0000063534" "PTCH1" "0000063535" "PTCH1" "0000063536" "PTCH1" "0000063537" "PTCH1" "0000063538" "PTCH1" "0000063539" "PTCH1" "0000063540" "PTCH1" "0000063541" "PTCH1" "0000063542" "PTCH1" "0000063543" "PTCH1" "0000063544" "PTCH1" "0000063545" "PTCH1" "0000063546" "PTCH1" "0000063547" "PTCH1" "0000063548" "PTCH1" "0000063549" "PTCH1" "0000063550" "PTCH1" "0000063551" "PTCH1" "0000063552" "PTCH1" "0000063553" "PTCH1" "0000063554" "PTCH1" "0000063555" "PTCH1" "0000063556" "PTCH1" "0000063557" "PTCH1" "0000063558" "PTCH1" "0000063559" "PTCH1" "0000063560" "PTCH1" "0000063561" "PTCH1" "0000063562" "PTCH1" "0000063563" "PTCH1" "0000063564" "PTCH1" "0000063565" "PTCH1" "0000063566" "PTCH1" "0000063567" "PTCH1" "0000063568" "PTCH1" "0000063569" "PTCH1" "0000063571" "PTCH1" "0000063572" "PTCH1" "0000063573" "PTCH1" "0000063574" "PTCH1" "0000063575" "PTCH1" "0000063576" "PTCH1" "0000063577" "PTCH1" "0000063578" "PTCH1" "0000063579" "PTCH1" "0000063580" "PTCH1" "0000063581" "PTCH1" "0000063582" "PTCH1" "0000063583" "PTCH1" "0000063585" "PTCH1" "0000063586" "PTCH1" "0000063587" "PTCH1" "0000063588" "PTCH1" "0000063589" "PTCH1" "0000063590" "PTCH1" "0000063591" "PTCH1" "0000063592" "PTCH1" "0000063593" "PTCH1" "0000063594" "PTCH1" "0000063595" "PTCH1" "0000063596" "PTCH1" "0000063597" "PTCH1" "0000063598" "PTCH1" "0000063599" "PTCH1" "0000063600" "PTCH1" "0000063601" "PTCH1" "0000063602" "PTCH1" "0000063603" "PTCH1" "0000063604" "PTCH1" "0000063605" "PTCH1" "0000063606" "PTCH1" "0000063607" "PTCH1" "0000063608" "PTCH1" "0000063609" "PTCH1" "0000063610" "PTCH1" "0000063611" "PTCH1" "0000063612" "PTCH1" "0000063613" "PTCH1" "0000063614" "PTCH1" "0000063615" "PTCH1" "0000063616" "PTCH1" "0000063617" "PTCH1" "0000063618" "PTCH1" "0000063619" "PTCH1" "0000063620" "PTCH1" "0000063621" "PTCH1" "0000063622" "PTCH1" "0000063623" "PTCH1" "0000063624" "PTCH1" "0000063625" "PTCH1" "0000063626" "PTCH1" "0000063627" "PTCH1" "0000063628" "PTCH1" "0000063629" "PTCH1" "0000063630" "PTCH1" "0000063631" "PTCH1" "0000063632" "PTCH1" "0000063633" "PTCH1" "0000063634" "PTCH1" "0000063635" "PTCH1" "0000063636" "PTCH1" "0000063637" "PTCH1" "0000063638" "PTCH1" "0000063639" "PTCH1" "0000063640" "PTCH1" "0000063641" "PTCH1" "0000063642" "PTCH1" "0000063643" "PTCH1" "0000063644" "PTCH1" "0000063645" "PTCH1" "0000063646" "PTCH1" "0000063647" "PTCH1" "0000063648" "PTCH1" "0000063649" "PTCH1" "0000063650" "PTCH1" "0000063651" "PTCH1" "0000063652" "PTCH1" "0000063653" "PTCH1" "0000063654" "PTCH1" "0000063655" "PTCH1" "0000063656" "PTCH1" "0000063657" "PTCH1" "0000063658" "PTCH1" "0000063659" "PTCH1" "0000063660" "PTCH1" "0000063661" "PTCH1" "0000063662" "PTCH1" "0000063663" "PTCH1" "0000063664" "PTCH1" "0000063665" "PTCH1" "0000063666" "PTCH1" "0000063667" "PTCH1" "0000063668" "PTCH1" "0000063669" "PTCH1" "0000063670" "PTCH1" "0000063671" "PTCH1" "0000063672" "PTCH1" "0000063673" "PTCH1" "0000063674" "PTCH1" "0000063675" "PTCH1" "0000063676" "PTCH1" "0000063677" "PTCH1" "0000063678" "PTCH1" "0000063679" "PTCH1" "0000063680" "PTCH1" "0000063681" "PTCH1" "0000063682" "PTCH1" "0000063683" "PTCH1" "0000063684" "PTCH1" "0000063685" "PTCH1" "0000063686" "PTCH1" "0000063687" "PTCH1" "0000063688" "PTCH1" "0000063689" "PTCH1" "0000063690" "PTCH1" "0000063691" "PTCH1" "0000063692" "PTCH1" "0000063693" "PTCH1" "0000063694" "PTCH1" "0000063695" "PTCH1" "0000063696" "PTCH1" "0000063697" "PTCH1" "0000063698" "PTCH1" "0000063699" "PTCH1" "0000063700" "PTCH1" "0000063701" "PTCH1" "0000063702" "PTCH1" "0000063703" "PTCH1" "0000063704" "PTCH1" "0000063705" "PTCH1" "0000063706" "PTCH1" "0000063707" "PTCH1" "0000063708" "PTCH1" "0000063709" "PTCH1" "0000063710" "PTCH1" "0000063711" "PTCH1" "0000063712" "PTCH1" "0000063713" "PTCH1" "0000063714" "PTCH1" "0000063715" "PTCH1" "0000063716" "PTCH1" "0000063717" "PTCH1" "0000063718" "PTCH1" "0000063719" "PTCH1" "0000063720" "PTCH1" "0000063721" "PTCH1" "0000063722" "PTCH1" "0000063723" "PTCH1" "0000063724" "PTCH1" "0000063725" "PTCH1" "0000063726" "PTCH1" "0000063727" "PTCH1" "0000063728" "PTCH1" "0000063729" "PTCH1" "0000063730" "PTCH1" "0000063731" "PTCH1" "0000063732" "PTCH1" "0000063733" "PTCH1" "0000063734" "PTCH1" "0000063735" "PTCH1" "0000063736" "PTCH1" "0000063737" "PTCH1" "0000063738" "PTCH1" "0000063739" "PTCH1" "0000063740" "PTCH1" "0000063741" "PTCH1" "0000063742" "PTCH1" "0000063743" "PTCH1" "0000063744" "PTCH1" "0000063745" "PTCH1" "0000063746" "PTCH1" "0000063747" "PTCH1" "0000063748" "PTCH1" "0000063749" "PTCH1" "0000063750" "PTCH1" "0000063751" "PTCH1" "0000063752" "PTCH1" "0000063753" "PTCH1" "0000063754" "PTCH1" "0000063755" "PTCH1" "0000063756" "PTCH1" "0000063757" "PTCH1" "0000063758" "PTCH1" "0000063759" "PTCH1" "0000063760" "PTCH1" "0000080907" "FOXP1" "0000080907" "PTCH1" "0000081679" "PTCH1" "0000087105" "PTCH1" "0000087106" "PTCH1" "0000087107" "PTCH1" "0000087108" "PTCH1" "0000087109" "PTCH1" "0000087110" "PTCH1" "0000087111" "PTCH1" "0000087112" "PTCH1" "0000087113" "PTCH1" "0000087114" "PTCH1" "0000087115" "PTCH1" "0000087116" "PTCH1" "0000087117" "PTCH1" "0000087118" "PTCH1" "0000087119" "PTCH1" "0000087120" "PTCH1" "0000087121" "PTCH1" "0000087122" "PTCH1" "0000087123" "PTCH1" "0000087124" "PTCH1" "0000087125" "PTCH1" "0000087126" "PTCH1" "0000087127" "PTCH1" "0000087128" "PTCH1" "0000087129" "PTCH1" "0000087130" "PTCH1" "0000087131" "PTCH1" "0000087132" "PTCH1" "0000087133" "PTCH1" "0000087134" "PTCH1" "0000087135" "PTCH1" "0000087136" "PTCH1" "0000087137" "PTCH1" "0000087138" "PTCH1" "0000087139" "PTCH1" "0000087140" "PTCH1" "0000087141" "PTCH1" "0000087142" "PTCH1" "0000087143" "PTCH1" "0000087144" "PTCH1" "0000087145" "PTCH1" "0000087146" "PTCH1" "0000087147" "PTCH1" "0000087148" "PTCH1" "0000087149" "PTCH1" "0000087150" "PTCH1" "0000087151" "PTCH1" "0000087152" "PTCH1" "0000087153" "PTCH1" "0000087154" "PTCH1" "0000087155" "PTCH1" "0000087156" "PTCH1" "0000087157" "PTCH1" "0000087158" "PTCH1" "0000087159" "PTCH1" "0000087160" "PTCH1" "0000087161" "PTCH1" "0000087162" "PTCH1" "0000087163" "PTCH1" "0000087164" "PTCH1" "0000087165" "PTCH1" "0000087166" "PTCH1" "0000087167" "PTCH1" "0000087168" "PTCH1" "0000087169" "PTCH1" "0000087170" "PTCH1" "0000087171" "PTCH1" "0000087172" "PTCH1" "0000087173" "PTCH1" "0000087174" "PTCH1" "0000087175" "PTCH1" "0000087176" "PTCH1" "0000087177" "PTCH1" "0000087178" "PTCH1" "0000087179" "PTCH1" "0000087180" "PTCH1" "0000087181" "PTCH1" "0000087182" "PTCH1" "0000087183" "PTCH1" "0000087184" "PTCH1" "0000087185" "PTCH1" "0000087186" "PTCH1" "0000087187" "PTCH1" "0000087188" "PTCH1" "0000087189" "PTCH1" "0000087190" "PTCH1" "0000087191" "PTCH1" "0000087192" "PTCH1" "0000087193" "PTCH1" "0000087194" "PTCH1" "0000087195" "PTCH1" "0000087196" "PTCH1" "0000087197" "PTCH1" "0000087198" "PTCH1" "0000087199" "PTCH1" "0000087200" "PTCH1" "0000087201" "PTCH1" "0000087202" "PTCH1" "0000087203" "PTCH1" "0000087204" "PTCH1" "0000087205" "PTCH1" "0000087206" "PTCH1" "0000087207" "PTCH1" "0000087208" "PTCH1" "0000087209" "PTCH1" "0000087210" "PTCH1" "0000087211" "PTCH1" "0000090257" "PTCH1" "0000090262" "PTCH1" "0000090263" "PTCH1" "0000090294" "PTCH1" "0000090300" "PTCH1" "0000090305" "PTCH1" "0000090308" "PTCH1" "0000090405" "PTCH1" "0000090406" "PTCH1" "0000090409" "PTCH1" "0000091112" "PTCH1" "0000091113" "PTCH1" "0000091441" "PTCH1" "0000091442" "PTCH1" "0000091443" "PTCH1" "0000091444" "PTCH1" "0000095811" "PTCH1" "0000100669" "PTCH1" "0000100670" "PTCH1" "0000100671" "PTCH1" "0000100672" "PTCH1" "0000100737" "PTCH1" "0000100738" "PTCH1" "0000100739" "PTCH1" "0000100740" "PTCH1" "0000100741" "PTCH1" "0000100742" "PTCH1" "0000101080" "PTCH1" "0000101652" "PTCH1" "0000164858" "PTCH1" "0000309871" "PTCH1" "0000444840" "PTCH1" ## 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 = 832 "{{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}}" "0000063794" "1" "90" "9" "98240435" "98240435" "subst" "0" "01164" "PTCH1_000441" "g.98240435G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95478153G>A" "" "pathogenic" "" "0000063798" "1" "90" "9" "98220454" "98220454" "del" "0" "01164" "PTCH1_000435" "g.98220454del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95458172del" "" "pathogenic" "" "0000063802" "1" "10" "9" "98209594" "98209594" "subst" "0.38885" "01164" "PTCH1_000030" "g.98209594G>A" "" "" "" "" "" "Germline" "" "rs357564" "0" "" "" "g.95447312G>A" "" "benign" "" "0000063803" "1" "90" "9" "98244471" "98244471" "del" "0" "01164" "PTCH1_000444" "g.98244471del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95482189del" "" "pathogenic" "" "0000063808" "1" "50" "9" "98239118" "98239118" "subst" "0" "01164" "PTCH1_000091" "g.98239118C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95476836C>G" "" "VUS" "" "0000063809" "1" "90" "9" "98244288" "98244288" "subst" "0" "01164" "PTCH1_000443" "g.98244288G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95482006G>A" "" "pathogenic" "" "0000063810" "1" "10" "9" "98270667" "98270669" "dup" "0" "01164" "PTCH1_000291" "g.98270667_98270669dup" "" "" "" "" "" "Germline" "" "rs71366293" "0" "" "" "g.95508385_95508387dup" "" "benign" "" "0000063811" "1" "90" "9" "98221906" "98221906" "dup" "0" "01164" "PTCH1_000437" "g.98221906dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95459624dup" "" "pathogenic" "" "0000086458" "11" "70" "9" "98241320" "98241320" "subst" "0.000434493" "00006" "PTCH1_000308" "g.98241320C>T" "1/100 cases" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}, {OMIM601309:0011}" "" "1165G>A" "" "Germline" "" "rs199476091" "0" "" "" "g.95479038C>T" "" "likely pathogenic" "" "0000086459" "0" "70" "9" "98241320" "98241320" "subst" "0.000434493" "00006" "PTCH1_000308" "g.98241320C>T" "" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}, {OMIM601309:0011}" "" "1165G>A" "" "Unknown" "" "rs199476091" "0" "" "" "g.95479038C>T" "" "likely pathogenic" "" "0000086495" "0" "90" "9" "98231100" "98231100" "subst" "0.001608" "00006" "PTCH1_000351" "g.98231100G>A" "" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}, {OMIM601309:0012}" "" "2171C>T" "" "Germline" "" "rs115556836" "0" "" "" "g.95468818G>A" "" "pathogenic" "" "0000086496" "0" "90" "9" "98231100" "98231100" "subst" "0.001608" "00006" "PTCH1_000351" "g.98231100G>A" "" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}, {OMIM601309:0011}" "" "2171C>T" "" "Germline" "" "rs115556836" "0" "" "" "g.95468818G>A" "" "pathogenic" "" "0000086497" "0" "90" "9" "98231100" "98231100" "subst" "0.001608" "00006" "PTCH1_000351" "g.98231100G>A" "" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}, {OMIM601309:0012}" "" "2171C>T" "" "Unknown" "" "rs115556836" "0" "" "" "g.95468818G>A" "" "pathogenic" "" "0000086498" "0" "90" "9" "98231100" "98231100" "subst" "0.001608" "00006" "PTCH1_000351" "g.98231100G>A" "" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}, {OMIM601309:0012}" "" "2171C>T" "" "Unknown" "" "rs115556836" "0" "" "" "g.95468818G>A" "" "pathogenic" "" "0000086499" "21" "70" "9" "98229479" "98229479" "subst" "0.000909615" "00006" "PTCH1_000183" "g.98229479T>C" "" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}, {OMIM601309:0013}" "" "2471A>G" "" "Germline" "" "rs199476092" "0" "" "" "g.95467197T>C" "" "likely pathogenic" "" "0000086570" "0" "70" "9" "98229479" "98229479" "subst" "0.000909615" "00006" "PTCH1_000183" "g.98229479T>C" "" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}, {OMIM601309:0013}" "" "2471A>G" "" "Unknown" "" "rs199476092" "0" "" "" "g.95467197T>C" "" "likely pathogenic" "" "0000086571" "11" "70" "9" "98220308" "98220308" "subst" "0.000606056" "00006" "PTCH1_000388" "g.98220308G>A" "1/40 cases HPE" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}, {OMIM601309:0014}" "" "3143C>T" "" "Germline" "" "rs138911275" "0" "" "" "g.95458026G>A" "" "likely pathogenic" "" "0000086572" "11" "70" "9" "98220308" "98220308" "subst" "0.000606056" "00006" "PTCH1_000388" "g.98220308G>A" "" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}, {OMIM601309:0014}" "" "3143C>T" "" "Germline" "" "rs138911275" "0" "" "" "g.95458026G>A" "" "likely pathogenic" "" "0000086573" "0" "70" "9" "98220308" "98220308" "subst" "0.000606056" "00006" "PTCH1_000388" "g.98220308G>A" "" "{PMID:Ming 2002:11941477}, {DOI:Ming 2002:10.1007/s00439-002-0695-5}, {OMIM601309:0014}" "" "" "" "Unknown" "" "rs138911275" "0" "" "" "g.95458026G>A" "" "likely pathogenic" "" "0000094380" "1" "90" "9" "98268850" "98268850" "subst" "0" "00125" "PTCH1_000356" "g.98268850C>T" "" "{PMID:Guo 2013:24204797}" "" "" "" "Unknown" "" "" "0" "" "" "g.95506568C>T" "" "pathogenic" "" "0000094381" "1" "90" "9" "98268833" "98268833" "subst" "0" "00125" "PTCH1_000065" "g.98268833G>A" "" "{PMID:Savino 2004:15459969}" "" "" "" "Unknown" "" "" "0" "" "" "g.95506551G>A" "" "pathogenic" "" "0000094382" "0" "90" "9" "98268804" "98268804" "subst" "0" "00125" "PTCH1_000375" "g.98268804G>T" "" "{PMID:Minami 2001:11457640}" "" "C279A" "" "De novo" "" "" "0" "" "" "g.95506522G>T" "" "pathogenic" "" "0000094383" "1" "90" "9" "98268778" "98268778" "subst" "0" "00125" "PTCH1_000066" "g.98268778A>T" "" "{PMID:Savino 2004:15459969}" "" "" "" "Unknown" "" "" "0" "" "" "g.95506496A>T" "" "pathogenic" "" "0000094384" "1" "90" "9" "98268766" "98268766" "subst" "0" "00125" "PTCH1_000110" "g.98268766A>C" "" "{PMID:Li 2008:18302678}" "" "" "" "Unknown" "" "" "0" "" "" "g.95506484A>C" "" "pathogenic" "" "0000094385" "1" "90" "9" "98268755" "98268755" "subst" "0" "00125" "PTCH1_000396" "g.98268755C>G" "" "{PMID:Tanioka 2005:15565302}" "" "" "" "Unknown" "" "" "0" "" "" "g.95506473C>G" "" "pathogenic" "" "0000094386" "1" "90" "9" "98268704" "98268704" "subst" "0" "00125" "PTCH1_000125" "g.98268704C>A" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95506422C>A" "" "pathogenic" "" "0000094387" "1" "90" "9" "98268697" "98268697" "subst" "0" "00125" "PTCH1_000407" "g.98268697C>T" "" "{PMID:Soufir 2006:16909134}" "" "" "" "Unknown" "" "" "0" "" "" "g.95506415C>T" "" "pathogenic" "" "0000094388" "1" "90" "9" "98268696" "98268696" "subst" "0" "00125" "PTCH1_000188" "g.98268696C>T" "" "{PMID:Suzuki 2012:22572734}" "" "" "" "Unknown" "" "" "0" "" "" "g.95506414C>T" "" "pathogenic" "" "0000094389" "0" "90" "9" "98248148" "98248148" "subst" "0" "00125" "PTCH1_000447" "g.98248148G>A" "" "{PMID:Wicking 1997:08981943},{PMID:Wicking 1997:9415689}" "" "C391T" "Father has had >10 BCC from 6th decade of life but radiologically negative; mother clinically and radiologically negative." "De novo" "" "" "0" "" "" "g.95485866G>A" "" "pathogenic" "" "0000094390" "1" "90" "9" "98248073" "98248073" "subst" "0" "00125" "PTCH1_000080" "g.98248073G>A" "" "{PMID:Marsh 2005:16088933}" "" "" "" "Unknown" "" "" "0" "" "" "g.95485791G>A" "" "pathogenic" "" "0000094391" "1" "90" "9" "98248001" "98248001" "subst" "0" "00125" "PTCH1_000415" "g.98248001G>A" "" "{PMID:Endo 2009:19618880}" "" "" "" "Unknown" "" "" "0" "" "" "g.95485719G>A" "" "pathogenic" "" "0000094392" "1" "90" "9" "98244316" "98244316" "subst" "0" "00125" "PTCH1_000126" "g.98244316C>A" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95482034C>A" "" "pathogenic" "" "0000094393" "1" "90" "9" "98244305" "98244305" "subst" "0" "00125" "PTCH1_000050" "g.98244305G>T" "" "{PMID:Boutet 2003:12925203}" "" "" "" "Unknown" "" "" "0" "" "" "g.95482023G>T" "" "pathogenic" "" "0000094394" "1" "90" "9" "98244289" "98244289" "subst" "0" "00125" "PTCH1_000067" "g.98244289T>G" "" "{PMID:Savino 2004:15459969}" "" "" "" "Unknown" "" "" "0" "" "" "g.95482007T>G" "" "pathogenic" "" "0000094395" "1" "90" "9" "98244268" "98244268" "subst" "0" "00125" "PTCH1_000420" "g.98244268C>T" "" "{PMID:Zhang 2011:21514272}" "" "" "" "Unknown" "" "" "0" "" "" "g.95481986C>T" "" "pathogenic" "" "0000094396" "1" "90" "9" "98244255" "98244255" "subst" "0" "00125" "PTCH1_000127" "g.98244255A>C" "" "{PMID:Shevchenko 2000:10649784}" "" "" "" "Unknown" "" "" "0" "" "" "g.95481973A>C" "" "pathogenic" "" "0000094397" "1" "90" "9" "98242850" "98242850" "subst" "0" "00125" "PTCH1_000423" "g.98242850C>T" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480568C>T" "" "pathogenic" "" "0000094398" "1" "90" "9" "98242797" "98242797" "subst" "0" "00125" "PTCH1_000128" "g.98242797G>A" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480515G>A" "" "pathogenic" "" "0000094399" "1" "90" "9" "98242784" "98242784" "subst" "0" "00125" "PTCH1_000033" "g.98242784C>T" "" "{PMID:Matsuzawa 2006:17021131}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480502C>T" "" "pathogenic" "" "0000094400" "1" "90" "9" "98242754" "98242754" "subst" "0" "00125" "PTCH1_000426" "g.98242754C>T" "" "{PMID:Sun 2008:18502968}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480472C>T" "" "pathogenic" "" "0000094401" "1" "90" "9" "98242744" "98242744" "subst" "0" "00125" "PTCH1_000427" "g.98242744G>C" "" "{PMID:Guo 2013:24204797}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480462G>C" "" "pathogenic" "" "0000094402" "1" "90" "9" "98242734" "98242734" "subst" "0" "00125" "PTCH1_000182" "g.98242734G>A" "" "{PMID:Mansilla 2006:16405370}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480452G>A" "" "pathogenic" "" "0000094403" "1" "90" "9" "98242679" "98242679" "subst" "0" "00125" "PTCH1_000129" "g.98242679G>C" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480397G>C" "" "pathogenic" "" "0000094404" "1" "90" "9" "98242302" "98242302" "subst" "0" "00125" "PTCH1_000298" "g.98242302T>C" "" "{PMID:Kool 2014:24651015}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480020T>C" "" "pathogenic" "" "0000094405" "1" "90" "9" "98242300" "98242300" "subst" "0" "00125" "PTCH1_000299" "g.98242300C>A" "" "{PMID:Romano 2011:21188685}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480018C>A" "" "pathogenic" "" "0000094406" "10" "90" "9" "98241404" "98241404" "subst" "0" "00125" "PTCH1_000449" "g.98241404G>A" "" "{PMID:Hahn 1996:08681379}" "" "C1081T (Q210X)" "" "Germline" "yes" "" "0" "" "" "g.95479122G>A" "" "pathogenic" "" "0000094407" "1" "90" "9" "98241382" "98241382" "subst" "0" "00125" "PTCH1_000303" "g.98241382A>C" "" "{PMID:Alonso-Gonzalez 2012:22007994}" "" "" "" "Germline" "" "" "0" "" "" "g.95479100A>C" "" "pathogenic" "" "0000094408" "0" "90" "9" "98241370" "98241370" "subst" "0" "00125" "PTCH1_000019" "g.98241370A>G" "" "{PMID:Aszterbaum 1998:09620294}" "" "T1127C" "" "Unknown" "" "" "0" "" "" "g.95479088A>G" "" "pathogenic" "" "0000094409" "1" "90" "9" "98241359" "98241359" "subst" "0" "00125" "PTCH1_000031" "g.98241359C>A" "" "{PMID:Pastorino 2005:15712338}" "" "" "" "Unknown" "" "" "0" "" "" "g.95479077C>A" "" "pathogenic" "" "0000094410" "1" "90" "9" "98241349" "98241349" "subst" "0" "00125" "PTCH1_000306" "g.98241349G>T" "" "{PMID:Skodric-Trifunovic 2015:25727044}" "" "" "" "Unknown" "" "" "0" "" "" "g.95479067G>T" "" "pathogenic" "" "0000094411" "1" "90" "9" "98241349" "98241349" "subst" "0" "00125" "PTCH1_000307" "g.98241349G>C" "" "{PMID:Scott 2007:17258529}" "" "" "" "Unknown" "" "" "0" "" "" "g.95479067G>C" "" "pathogenic" "" "0000094412" "1" "90" "9" "98241337" "98241337" "subst" "0" "00125" "PTCH1_000130" "g.98241337C>T" "" "{PMID:Hahn 1996:08681379}" "" "G1148A" "" "Germline" "" "" "0" "" "" "g.95479055C>T" "" "pathogenic" "" "0000094413" "1" "90" "9" "98241335" "98241335" "subst" "0" "00125" "PTCH1_000096" "g.98241335T>A" "" "{PMID:Ogata 2001:11531849}" "" "" "" "Unknown" "" "" "0" "" "" "g.95479053T>A" "" "pathogenic" "" "0000094414" "1" "90" "9" "98241320" "98241320" "subst" "0.000434493" "00125" "PTCH1_000308" "g.98241320C>T" "" "{PMID:Ming 2002:11941477}" "" "" "" "Unknown" "" "" "0" "" "" "g.95479038C>T" "" "pathogenic" "" "0000094415" "1" "90" "9" "98241301" "98241301" "subst" "0" "00125" "PTCH1_000309" "g.98241301C>T" "" "{PMID:Takahashi 2009:19557015}" "" "" "" "Unknown" "" "" "0" "" "" "g.95479019C>T" "" "pathogenic" "" "0000094416" "1" "90" "9" "98240450" "98240450" "subst" "4.46682E-5" "00125" "PTCH1_000311" "g.98240450C>A" "" "{PMID:Pruvost-Balland 2006:16508594}" "" "" "" "Unknown" "" "" "0" "" "" "g.95478168C>A" "" "pathogenic" "" "0000094417" "1" "90" "9" "98240447" "98240447" "subst" "0" "00125" "PTCH1_000312" "g.98240447G>A" "" "{PMID:Pastorino 2012:15712338}" "" "" "" "Unknown" "" "" "0" "" "" "g.95478165G>A" "" "pathogenic" "" "0000094418" "1" "90" "9" "98240437" "98240437" "subst" "0.00018679" "00125" "PTCH1_000313" "g.98240437G>C" "" "{PMID:Wei 2014:24668667}" "" "" "" "Unknown" "" "" "0" "" "" "g.95478155G>C" "" "pathogenic" "" "0000094419" "1" "90" "9" "98240359" "98240359" "subst" "0" "00125" "PTCH1_000316" "g.98240359A>T" "" "{PMID:Nakamura 2009:19213655}" "" "" "" "Unknown" "" "" "0" "" "" "g.95478077A>T" "" "pathogenic" "" "0000094420" "1" "90" "9" "98240356" "98240356" "subst" "0" "00125" "PTCH1_000016" "g.98240356G>C" "" "{PMID:Ribeiro 2006:17001668}" "" "" "" "Unknown" "" "" "0" "" "" "g.95478074G>C" "" "pathogenic" "" "0000094421" "1" "90" "9" "98240338" "98240338" "subst" "0" "00125" "PTCH1_000318" "g.98240338A>T" "" "Kitano 2013 J Oral Maxillofac Surg Med Pathol" "" "c.1346T>A" "" "Unknown" "?" "" "0" "" "" "g.95478056A>T" "" "pathogenic" "" "0000094422" "0" "90" "9" "98239952" "98239952" "subst" "0" "00125" "PTCH1_000074" "g.98239952C>T" "" "{PMID:Wicking 1997:08981943}" "" "G1368A" "" "Unknown" "" "" "0" "" "" "g.95477670C>T" "" "pathogenic" "" "0000094423" "1" "90" "9" "98239917" "98239917" "subst" "0" "00125" "PTCH1_000038" "g.98239917G>T" "" "{PMID:Matsuzawa 2006:17021131}" "" "" "" "Unknown" "" "" "0" "" "" "g.95477635G>T" "" "pathogenic" "" "0000094424" "1" "90" "9" "98239896" "98239896" "subst" "0" "00125" "PTCH1_000032" "g.98239896A>C" "" "{PMID:Pastorino 2005:15712338}" "" "" "" "Unknown" "" "" "0" "" "" "g.95477614A>C" "" "pathogenic" "" "0000094425" "1" "90" "9" "98239882" "98239882" "subst" "0" "00125" "PTCH1_000052" "g.98239882C>T" "" "{PMID:Boutet 2003:12925203}" "" "" "" "Unknown" "" "" "0" "" "" "g.95477600C>T" "" "pathogenic" "" "0000094426" "1" "90" "9" "98239881" "98239881" "subst" "0" "00125" "PTCH1_000039" "g.98239881C>A" "" "{PMID:Matsuzawa 2006:17021131}" "" "" "" "Unknown" "" "" "0" "" "" "g.95477599C>A" "" "pathogenic" "" "0000094427" "1" "90" "9" "98239132" "98239132" "subst" "0" "00125" "PTCH1_000053" "g.98239132G>A" "" "{PMID:Boutet 2003:12925203}" "" "" "" "Unknown" "" "" "0" "" "" "g.95476850G>A" "" "pathogenic" "" "0000094428" "11" "90" "9" "98239118" "98239118" "subst" "0" "00125" "PTCH1_000091" "g.98239118C>G" "" "{PMID:Chidambaram 1996:08840969}" "" "G1513C" "" "Germline" "" "" "0" "" "" "g.95476836C>G" "" "pathogenic" "" "0000094429" "1" "90" "9" "98239117" "98239117" "subst" "0" "00125" "PTCH1_000334" "g.98239117C>T" "" "{PMID:Fujii 2003:12655573}" "" "" "" "Unknown" "" "" "0" "" "" "g.95476835C>T" "" "pathogenic" "" "0000094430" "1" "90" "9" "98239117" "98239117" "subst" "0" "00125" "PTCH1_000335" "g.98239117C>A" "" "{PMID:Chidambaram 1996:08840969}" "" "G1514T" "" "Germline" "yes" "" "0" "" "" "g.95476835C>A" "" "pathogenic" "" "0000094431" "1" "90" "9" "98239112" "98239112" "subst" "0" "00125" "PTCH1_000336" "g.98239112C>G" "" "{PMID:Guo 2013:24204797}" "" "" "" "Unknown" "" "" "0" "" "" "g.95476830C>G" "" "pathogenic" "" "0000094432" "1" "90" "9" "98239106" "98239106" "subst" "0" "00125" "PTCH1_000035" "g.98239106C>A" "" "{PMID:Wicking 1997:08981943}" "" "" "" "Unknown" "" "" "0" "" "" "g.95476824C>A" "" "pathogenic" "" "0000094433" "21" "90" "9" "98239058" "98239058" "subst" "0" "00125" "PTCH1_000337" "g.98239058T>A" "" "{PMID:Hasenpusch-Theil 1997:10200051}" "" "A1573T" "" "Germline" "" "" "0" "" "" "g.95476776T>A" "" "pathogenic" "" "0000094434" "1" "90" "9" "98238384" "98238384" "subst" "0" "00125" "PTCH1_000012" "g.98238384T>G" "" "{PMID:Tanioka 2005:15565302}" "" "" "" "Unknown" "" "" "0" "" "" "g.95476102T>G" "" "pathogenic" "" "0000094435" "1" "90" "9" "98238374" "98238374" "subst" "0" "00125" "PTCH1_000341" "g.98238374G>C" "" "{PMID:Gururangan 2015:25940061}" "" "" "" "Unknown" "" "" "0" "" "" "g.95476092G>C" "" "pathogenic" "" "0000094436" "1" "90" "9" "98232164" "98232164" "subst" "0" "00125" "PTCH1_000166" "g.98232164G>C" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95469882G>C" "" "pathogenic" "" "0000094437" "1" "90" "9" "98232139" "98232139" "subst" "0" "00125" "PTCH1_000343" "g.98232139A>C" "" "{PMID:Crawford 2009:19414732}" "" "" "" "Unknown" "" "" "0" "" "" "g.95469857A>C" "" "pathogenic" "" "0000094438" "1" "90" "9" "98232138" "98232138" "subst" "0" "00125" "PTCH1_000187" "g.98232138G>A" "" "{PMID:Wilson 2006:16906569}" "" "" "" "Unknown" "" "" "0" "" "" "g.95469856G>A" "" "pathogenic" "" "0000094439" "1" "90" "9" "98231342" "98231342" "subst" "0" "00125" "PTCH1_000054" "g.98231342G>T" "" "{PMID:Boutet 2003:12925203}" "" "" "" "Unknown" "" "" "0" "" "" "g.95469060G>T" "" "pathogenic" "" "0000094440" "1" "90" "9" "98231344" "98231344" "subst" "0" "00125" "PTCH1_000109" "g.98231344T>A" "" "{PMID:Li 2008:18302678}" "" "" "" "Unknown" "" "" "0" "" "" "g.95469062T>A" "" "pathogenic" "" "0000094441" "0" "90" "9" "98231296" "98231296" "subst" "0" "00125" "PTCH1_000346" "g.98231296G>A" "" "{PMID:Hasenpusch-Theil 1997:10200051}" "" "C1975T" "" "Unknown" "" "" "0" "" "" "g.95469014G>A" "" "pathogenic" "" "0000094442" "0" "90" "9" "98231221" "98231221" "subst" "0" "00125" "PTCH1_000075" "g.98231221G>A" "" "{PMID:Wicking 1997:08981943},{PMID:Wicking 1997:9415689}" "" "C2050T" "Parents both clinically and radiologically negative but history of multiple BCC in a grandmother." "De novo" "" "" "0" "" "" "g.95468939G>A" "" "pathogenic" "" "0000094443" "0" "90" "9" "98231203" "98231203" "subst" "0" "00125" "PTCH1_000076" "g.98231203G>A" "" "{PMID:Wicking 1997:08981943}" "" "C2068T" "" "Unknown" "" "" "0" "" "" "g.95468921G>A" "" "pathogenic" "" "0000094444" "1" "90" "9" "98231143" "98231143" "subst" "0" "00125" "PTCH1_000349" "g.98231143G>A" "" "{PMID:Marsh 2005:16088933}" "" "" "" "Unknown" "" "" "0" "" "" "g.95468861G>A" "" "pathogenic" "" "0000094445" "1" "90" "9" "98231100" "98231100" "subst" "0.001608" "00125" "PTCH1_000351" "g.98231100G>A" "" "{PMID:Ming 2002:11941477}" "" "" "" "Unknown" "" "" "0" "" "" "g.95468818G>A" "" "pathogenic" "" "0000094446" "1" "90" "9" "98231097" "98231097" "subst" "0" "00125" "PTCH1_000352" "g.98231097T>A" "" "{PMID:Ponti 2012:22559979}" "" "" "" "Unknown" "" "" "0" "" "" "g.95468815T>A" "" "pathogenic" "" "0000094447" "1" "90" "9" "98229706" "98229706" "subst" "0" "00125" "PTCH1_000353" "g.98229706A>C" "" "{PMID:Ribeiro 2006:17001668}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467424A>C" "" "pathogenic" "" "0000094448" "1" "90" "9" "98229638" "98229638" "subst" "0" "00125" "PTCH1_000197" "g.98229638C>T" "" "{PMID:Soufir 2006:16909134}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467356C>T" "" "pathogenic" "" "0000094449" "1" "90" "9" "98229567" "98229567" "subst" "0" "00125" "PTCH1_000357" "g.98229567G>T" "" "{PMID:Kansal 2007:17349603}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467285G>T" "" "pathogenic" "" "0000094450" "1" "90" "9" "98229546" "98229546" "subst" "0" "00125" "PTCH1_000361" "g.98229546A>C" "" "{PMID:Roudgari 2012:21651513}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467264A>C" "" "pathogenic" "" "0000094451" "1" "90" "9" "98229512" "98229512" "subst" "0" "00125" "PTCH1_000363" "g.98229512G>A" "" "{PMID:Endo 2009:19618880}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467230G>A" "" "pathogenic" "" "0000094452" "1" "90" "9" "98229505" "98229505" "subst" "0" "00125" "PTCH1_000190" "g.98229505A>T" "" "{PMID:Soufir 2006:16909134}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467223A>T" "" "pathogenic" "" "0000094453" "1" "90" "9" "98229493" "98229493" "subst" "0" "00125" "PTCH1_000057" "g.98229493A>G" "" "{PMID:Boutet 2003:12925203}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467211A>G" "" "pathogenic" "" "0000094454" "1" "90" "9" "98229479" "98229479" "subst" "0.000909615" "00125" "PTCH1_000183" "g.98229479T>C" "" "{PMID:Ming 2002:11941477}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467197T>C" "" "pathogenic" "" "0000094455" "1" "90" "9" "98224222" "98224222" "subst" "0" "00125" "PTCH1_000058" "g.98224222G>T" "" "{PMID:Boutet 2003:12925203}" "" "" "" "Unknown" "" "" "0" "" "" "g.95461940G>T" "" "pathogenic" "" "0000094456" "1" "90" "9" "98222056" "98222056" "subst" "0" "00125" "PTCH1_000191" "g.98222056G>A" "" "{PMID:Soufir 2006:16909134}" "" "" "" "Unknown" "" "" "0" "" "" "g.95459774G>A" "" "pathogenic" "" "0000094457" "1" "90" "9" "98222046" "98222046" "subst" "0" "00125" "PTCH1_000020" "g.98222046A>C" "" "{PMID:Ribeiro 2006:17001668}" "" "" "" "Unknown" "" "" "0" "" "" "g.95459764A>C" "" "pathogenic" "" "0000094458" "0" "90" "9" "98222009" "98222009" "subst" "0" "00125" "PTCH1_000046" "g.98222009G>T" "" "{PMID:Barreto 2000:10890722}" "" "C2760A" "" "Unknown" "" "" "0" "" "" "g.95459727G>T" "" "pathogenic" "" "0000094459" "1" "90" "9" "98221993" "98221993" "subst" "0" "00125" "PTCH1_000060" "g.98221993A>G" "" "{PMID:Boutet 2003:12925203}" "" "" "" "Unknown" "" "" "0" "" "" "g.95459711A>G" "" "pathogenic" "" "0000094460" "0" "90" "9" "98221991" "98221991" "subst" "0" "00125" "PTCH1_000024" "g.98221991C>T" "" "{PMID:Aszterbaum 1998:09620294}" "" "G2778A" "" "Unknown" "" "" "0" "" "" "g.95459709C>T" "" "pathogenic" "" "0000094461" "0" "90" "9" "98221936" "98221936" "subst" "0" "00125" "PTCH1_000377" "g.98221936G>A" "" "{PMID:Hasenpusch-Theil 1997:10200051}" "" "C2821T" "" "Unknown" "" "" "0" "" "" "g.95459654G>A" "" "pathogenic" "" "0000094462" "1" "90" "9" "98221930" "98221930" "subst" "0" "00125" "PTCH1_000378" "g.98221930C>A" "" "{PMID:Santos 2011:21699520}" "" "" "" "Unknown" "" "" "0" "" "" "g.95459648C>A" "" "pathogenic" "" "0000094463" "1" "90" "9" "98220555" "98220555" "subst" "0" "00125" "PTCH1_000010" "g.98220555C>A" "" "{PMID:Tanioka 2005:15565302}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458273C>A" "" "pathogenic" "" "0000094464" "1" "90" "9" "98220518" "98220518" "subst" "2.85637E-5" "00125" "PTCH1_000380" "g.98220518C>T" "" "{PMID:Zaidi 2013:23665959}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458236C>T" "" "pathogenic" "" "0000094465" "1" "90" "9" "98220436" "98220436" "subst" "0" "00125" "PTCH1_000077" "g.98220436G>T" "" "{PMID:Wicking 1997:08981943}" "" "C3015A" "" "Germline" "" "" "0" "" "" "g.95458154G>T" "" "pathogenic" "" "0000094466" "1" "90" "9" "98220410" "98220410" "subst" "0" "00125" "PTCH1_000194" "g.98220410C>T" "" "{PMID:Soufir 2006:16909134}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458128C>T" "" "pathogenic" "" "0000094467" "1" "90" "9" "98220405" "98220405" "subst" "0" "00125" "PTCH1_000179" "g.98220405G>A" "" "{PMID:Fujii 2011:12655573}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458123G>A" "" "pathogenic" "" "0000094468" "1" "90" "9" "98220401" "98220401" "subst" "0" "00125" "PTCH1_000385" "g.98220401T>C" "" "{PMID:Torrelo 2013:23746055}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458119T>C" "" "pathogenic" "" "0000094469" "1" "90" "9" "98220317" "98220317" "subst" "0" "00125" "PTCH1_000387" "g.98220317T>A" "" "{PMID:Wang 2009:19008023}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458035T>A" "" "pathogenic" "" "0000094470" "1" "90" "9" "98220308" "98220308" "subst" "0.000606056" "00125" "PTCH1_000388" "g.98220308G>A" "" "{PMID:Ming 2002:11941477}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458026G>A" "" "pathogenic" "" "0000094471" "1" "90" "9" "98218668" "98218668" "subst" "0" "00125" "PTCH1_000026" "g.98218668C>A" "" "{PMID:Aszterbaum 1998:09620294}" "" "" "" "Unknown" "" "" "0" "" "" "g.95456386C>A" "" "pathogenic" "" "0000094472" "0" "90" "9" "98218659" "98218659" "subst" "0" "00125" "PTCH1_000390" "g.98218659C>G" "" "{PMID:Wicking 1997:08981943}" "" "G3193C" "" "Unknown" "" "" "0" "" "" "g.95456377C>G" "" "pathogenic" "" "0000094473" "1" "90" "9" "98218658" "98218658" "subst" "0" "00125" "PTCH1_000089" "g.98218658C>T" "" "{PMID:Smucker 2006:17328283}" "" "" "" "Unknown" "" "" "0" "" "" "g.95456376C>T" "" "pathogenic" "" "0000094474" "1" "90" "9" "98218599" "98218599" "subst" "0" "00125" "PTCH1_000078" "g.98218599A>G" "" "{PMID:Song 2006:16675912}" "" "" "" "Unknown" "" "" "0" "" "" "g.95456317A>G" "" "pathogenic" "" "0000094475" "1" "90" "9" "98218587" "98218587" "subst" "0" "00125" "PTCH1_000394" "g.98218587C>T" "" "{PMID:Ponti 2013:22559979}" "" "" "" "Unknown" "" "" "0" "" "" "g.95456305C>T" "" "pathogenic" "" "0000094476" "1" "90" "9" "98218587" "98218587" "subst" "0" "00125" "PTCH1_000395" "g.98218587C>G" "" "{PMID:Pruvost-Balland 2006:16508594}" "" "" "" "Unknown" "" "" "0" "" "" "g.95456305C>G" "" "pathogenic" "" "0000094477" "1" "90" "9" "98218587" "98218587" "subst" "0" "00125" "PTCH1_000131" "g.98218587C>A" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95456305C>A" "" "pathogenic" "" "0000094478" "1" "90" "9" "98218568" "98218568" "subst" "0" "00125" "PTCH1_000397" "g.98218568T>C" "" "{PMID:Goetze 2015:25600101}" "" "" "" "Unknown" "" "" "0" "" "" "g.95456286T>C" "" "pathogenic" "" "0000094479" "1" "90" "9" "98215869" "98215869" "subst" "0" "00125" "PTCH1_000028" "g.98215869T>A" "" "{PMID:Aszterbaum 1998:09620294}" "" "" "" "Unknown" "" "" "0" "" "" "g.95453587T>A" "" "pathogenic" "" "0000094480" "1" "90" "9" "98215815" "98215815" "subst" "0" "00125" "PTCH1_000400" "g.98215815A>G" "" "{PMID:Reifenberger 2001:11231326}" "" "" "Also heterozygous for a BRCA1 mutation." "Unknown" "" "" "0" "" "" "g.95453533A>G" "" "pathogenic" "" "0000094481" "1" "90" "9" "98215814" "98215814" "subst" "0" "00125" "PTCH1_000116" "g.98215814G>T" "" "{PMID:Chidambaram 1996:08840969}" "" "C3383A" "" "Germline" "yes" "" "0" "" "" "g.95453532G>T" "" "pathogenic" "" "0000094482" "1" "90" "9" "98215787" "98215787" "subst" "3.6572E-5" "00125" "PTCH1_000401" "g.98215787G>A" "" "{PMID:Pruvost-Balland 2006:16508594}" "" "" "" "Unknown" "" "" "0" "" "" "g.95453505G>A" "" "pathogenic" "" "0000094483" "1" "90" "9" "98215769" "98215769" "subst" "0" "00125" "PTCH1_000402" "g.98215769A>C" "" "{PMID:Sun 2008:18502968}" "" "" "" "Unknown" "" "" "0" "" "" "g.95453487A>C" "" "pathogenic" "" "0000094484" "1" "30" "9" "98212185" "98212185" "subst" "0.000531988" "00125" "PTCH1_000404" "g.98212185C>T" "" "{PMID:Bonachea 2014:25260786}" "" "" "" "Unknown" "" "" "0" "" "" "g.95449903C>T" "" "likely benign" "" "0000094485" "1" "90" "9" "98212173" "98212173" "subst" "0" "00125" "PTCH1_000041" "g.98212173C>T" "" "{PMID:Barreto 2000:10890722}" "" "G3499A" "" "Unknown" "" "" "0" "" "" "g.95449891C>T" "" "pathogenic" "" "0000094486" "1" "90" "9" "98211572" "98211572" "subst" "0.0335774" "00125" "PTCH1_000061" "g.98211572T>A" "" "{PMID:Boutet 2003:12925203}" "" "" "" "Unknown" "" "" "0" "" "" "g.95449290T>A" "" "pathogenic" "" "0000094487" "1" "90" "9" "98211431" "98211431" "subst" "0" "00125" "PTCH1_000406" "g.98211431C>G" "" "{PMID:Pruvost-Balland 2006:16508594}" "" "" "" "Unknown" "" "" "0" "" "" "g.95449149C>G" "" "pathogenic" "" "0000094488" "1" "90" "9" "98209594" "98209594" "subst" "0.38885" "00125" "PTCH1_000030" "g.98209594G>A" "" "{PMID:Asplund 2005:15888139}" "" "" "" "Unknown" "" "" "0" "" "" "g.95447312G>A" "" "pathogenic" "" "0000094489" "1" "90" "9" "98209582" "98209582" "subst" "2.06839E-5" "00125" "PTCH1_000408" "g.98209582C>T" "" "{PMID:Matsuzawa 2006:17021131}" "" "3944C>T" "" "Unknown" "" "" "0" "" "" "g.95447300C>T" "" "pathogenic" "" "0000094490" "1" "90" "9" "98209390" "98209390" "subst" "3.69261E-5" "00125" "PTCH1_000409" "g.98209390G>A" "" "{PMID:Wei 2014:24668667}" "" "" "" "Unknown" "" "" "0" "" "" "g.95447108G>A" "" "pathogenic" "" "0000094491" "0" "90" "9" "98209224" "98209224" "subst" "0" "00125" "PTCH1_000120" "g.98209224C>A" "" "{PMID:Lench 1997:09341860}" "" "G4302T" "" "Unknown" "" "" "0" "" "" "g.95446942C>A" "" "pathogenic" "" "0000094492" "1" "90" "9" "98244486" "98244486" "subst" "0" "00125" "PTCH1_000418" "g.98244486C>T" "" "{PMID:Pastorino 2012:15712338}" "" "" "" "Unknown" "" "" "0" "" "" "g.95482204C>T" "" "pathogenic" "" "0000094493" "1" "90" "9" "98247967" "98247967" "subst" "0" "00125" "PTCH1_000417" "g.98247967C>T" "" "{PMID:Nagao 2005:16203740}" "" "" "" "Unknown" "" "" "0" "" "" "g.95485685C>T" "" "pathogenic" "" "0000094494" "1" "90" "9" "98247966" "98247966" "subst" "0" "00125" "PTCH1_000416" "g.98247966C>T" "" "{PMID:Guo 2013:24204797}" "" "" "" "Unknown" "" "" "0" "" "" "g.95485684C>T" "" "pathogenic" "" "0000094495" "1" "90" "9" "98247965" "98247965" "subst" "0" "00125" "PTCH1_000176" "g.98247965A>C" "" "{PMID:Fujii 2011:12655573}" "" "" "" "Unknown" "" "" "0" "" "" "g.95485683A>C" "" "pathogenic" "" "0000094496" "1" "90" "9" "98244324" "98244324" "subst" "0" "00125" "PTCH1_000042" "g.98244324T>A" "" "{PMID:Pastorino 2005:15712338}" "" "" "" "Unknown" "" "" "0" "" "" "g.95482042T>A" "" "pathogenic" "" "0000094497" "1" "90" "9" "98244414" "98244414" "subst" "0" "00125" "PTCH1_000419" "g.98244414A>T" "" "{PMID:Pastorino 2012:15712338}" "" "" "" "Unknown" "" "" "0" "" "" "g.95482132A>T" "" "pathogenic" "" "0000094498" "1" "90" "9" "98244230" "98244230" "subst" "0" "00125" "PTCH1_000421" "g.98244230C>A" "" "{PMID:Shevchenko 2000:10649784}" "" "" "" "Unknown" "" "" "0" "" "" "g.95481948C>A" "" "pathogenic" "" "0000094499" "1" "90" "9" "98242671" "98242671" "subst" "0" "00125" "PTCH1_000068" "g.98242671C>G" "" "{PMID:Savino 2004:15459969}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480389C>G" "" "pathogenic" "" "0000094500" "1" "90" "9" "98242667" "98242667" "subst" "0" "00125" "PTCH1_000115" "g.98242667C>A" "" "{PMID:Fujii 2003:12655573}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480385C>A" "" "pathogenic" "" "0000094501" "1" "90" "9" "98241439" "98241439" "subst" "0" "00125" "PTCH1_000302" "g.98241439A>T" "" "{PMID:Bholah 2014:24659465}" "" "" "" "Unknown" "" "" "0" "" "" "g.95479157A>T" "" "pathogenic" "" "0000094502" "1" "90" "9" "98241431" "98241431" "subst" "0" "00125" "PTCH1_000242" "g.98241431T>G" "" "{PMID:Wicking 1997:08981943},{PMID:Smyth 1998:9654212}" "" "A1055-2C" "" "Germline" "" "" "0" "" "" "g.95479149T>G" "" "pathogenic" "" "0000094503" "1" "90" "9" "98242250" "98242250" "subst" "0" "00125" "PTCH1_000301" "g.98242250C>G" "" "{PMID:Sasaki 2009:19521425}" "" "" "" "Unknown" "" "" "0" "" "" "g.95479968C>G" "" "pathogenic" "" "0000094504" "1" "90" "9" "98239986" "98239986" "subst" "0" "00125" "PTCH1_000320" "g.98239986T>C" "" "{PMID:Pastorino 2012:15712338}" "" "" "" "Unknown" "" "" "0" "" "" "g.95477704T>C" "" "pathogenic" "" "0000094505" "1" "90" "9" "98240331" "98240331" "subst" "4.06131E-6" "00125" "PTCH1_000319" "g.98240331C>T" "" "{PMID:Sun 2008:18502968}" "" "" "" "Unknown" "" "" "0" "" "" "g.95478049C>T" "" "pathogenic" "" "0000094506" "1" "90" "9" "98239140" "98239140" "subst" "0" "00125" "PTCH1_000330" "g.98239140C>T" "" "{PMID:Sun 2008:18502968}" "" "" "" "Unknown" "" "" "0" "" "" "g.95476858C>T" "" "pathogenic" "" "0000094507" "1" "90" "9" "98239829" "98239829" "subst" "0" "00125" "PTCH1_000229" "g.98239829C>T" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95477547C>T" "" "pathogenic" "" "0000094508" "1" "90" "9" "98239828" "98239828" "subst" "0" "00125" "PTCH1_000157" "g.98239828C>G" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95477546C>G" "" "pathogenic" "" "0000094509" "1" "90" "9" "98238443" "98238443" "subst" "0" "00125" "PTCH1_000339" "g.98238443T>G" "" "{PMID:Larsen 2014:24814739}" "" "" "" "Unknown" "" "" "0" "" "" "g.95476161T>G" "" "pathogenic" "" "0000094510" "1" "90" "9" "98239040" "98239040" "subst" "0" "00125" "PTCH1_000338" "g.98239040C>T" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95476758C>T" "" "pathogenic" "" "0000094511" "1" "90" "9" "98226337" "98226337" "subst" "0" "00125" "PTCH1_000367" "g.98226337T>C" "" "{PMID:Bholah 2014:24659465}" "" "" "" "Unknown" "" "" "0" "" "" "g.95464055T>C" "" "pathogenic" "" "0000094512" "1" "90" "9" "98226337" "98226337" "subst" "0" "00125" "PTCH1_000368" "g.98226337T>C" "" "{PMID:Bholah 2014:24659465}" "" "" "" "Unknown" "" "" "0" "" "" "g.95464055T>C" "" "pathogenic" "" "0000094513" "1" "90" "9" "98229397" "98229397" "subst" "0" "00125" "PTCH1_000366" "g.98229397C>A" "" "{PMID:Sun 2008:18502968}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467115C>A" "" "pathogenic" "" "0000094514" "1" "90" "9" "98229396" "98229396" "subst" "0" "00125" "PTCH1_000230" "g.98229396A>G" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467114A>G" "" "pathogenic" "" "0000094515" "1" "90" "9" "98248071" "98248074" "del" "0" "00125" "PTCH1_000413" "g.98248071_98248074del" "" "{PMID:Abe 2008:19002359}" "" "667delAGAC" "" "Unknown" "" "" "0" "" "" "g.95485789_95485792del" "" "pathogenic" "" "0000094517" "1" "90" "9" "98224137" "98224137" "subst" "0" "00125" "PTCH1_000370" "g.98224137C>A" "" "{PMID:Larsen 2014:24814739}" "" "" "" "Unknown" "" "" "0" "" "" "g.95461855C>A" "" "pathogenic" "" "0000094518" "0" "90" "9" "98221881" "98221881" "subst" "0" "00125" "PTCH1_000210" "g.98221881C>G" "" "{PMID:Chidambaram 1996:08840969}" "" "" "" "Unknown" "" "" "0" "" "" "g.95459599C>G" "" "pathogenic" "" "0000094519" "0" "90" "9" "98218697" "98218697" "subst" "0" "00125" "PTCH1_000221" "g.98218697T>c" "" "{PMID:Wicking 1997:9415689},{PMID:Smyth 1998:9654212}" "" "3157-2A>G" "skipping exon 18\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.95456415T>C" "" "pathogenic" "" "0000094520" "1" "90" "9" "98220290" "98220290" "subst" "0" "00125" "PTCH1_000043" "g.98220290C>T" "" "{PMID:Savino 2004:15459969}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458008C>T" "" "pathogenic" "" "0000094521" "1" "90" "9" "98212224" "98212224" "subst" "0" "00125" "PTCH1_000112" "g.98212224T>C" "" "{PMID:Marsh 2005:16088933}" "" "" "" "Unknown" "" "" "0" "" "" "g.95449942T>C" "" "pathogenic" "" "0000094523" "1" "90" "9" "98268863" "98268863" "del" "0" "00125" "PTCH1_000222" "g.98268863del" "" "{PMID:Savino 2004:15459969}" "" "" "" "Unknown" "" "" "0" "" "" "g.95506581del" "" "pathogenic" "" "0000094524" "1" "90" "9" "98268845" "98268846" "del" "0" "00125" "PTCH1_000360" "g.98268845_98268846del" "" "{PMID:Takahashi 2009:19557015}" "" "240_241delAG" "" "Unknown" "" "" "0" "" "" "g.95506563_95506564del" "" "pathogenic" "" "0000094525" "1" "90" "9" "98268831" "98268832" "del" "0" "00125" "PTCH1_000104" "g.98268831_98268832del" "" "{PMID:Marsh 2005:16088933}" "" "254_255delGA" "" "Unknown" "" "" "0" "" "" "g.95506549_95506550del" "" "pathogenic" "" "0000094526" "0" "90" "9" "98268826" "98268827" "del" "0" "00125" "PTCH1_000202" "g.98268826_98268827del" "" "{PMID:Wicking 1997:08981943}" "" "244delCT" "" "Unknown" "" "" "0" "" "" "g.95506544_95506545del" "" "pathogenic" "" "0000094527" "1" "90" "9" "98268821" "98268824" "del" "0" "00125" "PTCH1_000135" "g.98268821_98268824del" "" "{PMID:Klein 2005:16301862}" "" "262_265delTTTA" "" "Unknown" "" "" "0" "" "" "g.95506539_95506542del" "" "pathogenic" "" "0000094528" "1" "90" "9" "98268799" "98268799" "del" "0" "00125" "PTCH1_000379" "g.98268799del" "" "{PMID:Wilson 2006:16906569}" "" "" "" "Unknown" "" "" "0" "" "" "g.95506517del" "" "pathogenic" "" "0000094529" "1" "90" "9" "98268755" "98268755" "del" "0" "00125" "PTCH1_000108" "g.98268755del" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95506473del" "" "pathogenic" "" "0000094530" "1" "90" "9" "98248094" "98248094" "del" "0" "00125" "PTCH1_000411" "g.98248094del" "" "{PMID:Nagao 2005:16203740}" "" "" "" "Unknown" "" "" "0" "" "" "g.95485812del" "" "pathogenic" "" "0000094531" "1" "90" "9" "98248021" "98248023" "del" "0" "00125" "PTCH1_000049" "g.98248021_98248023del" "" "{PMID:Boutet 2003:12925203}" "" "531_533delACA" "" "Unknown" "" "" "0" "" "" "g.95485739_95485741del" "" "pathogenic" "" "0000094532" "1" "90" "9" "98248006" "98248017" "del" "0" "00125" "PTCH1_000414" "g.98248006_98248017del" "" "{PMID:Guo 2013:24204797}" "" "534_545del12" "" "Unknown" "" "" "0" "" "" "g.95485724_95485735del" "" "pathogenic" "" "0000094533" "0" "90" "9" "98244224" "98244231" "del" "0" "00125" "PTCH1_000422" "g.98244224_98244231del" "" "{PMID:Lam 2002:12175781}" "" "IVS5+1delGTAAGTGT" "" "Unknown" "" "" "0" "" "" "g.95481942_95481949del" "" "pathogenic" "" "0000094534" "1" "90" "9" "98244227" "98244228" "del" "0" "00125" "PTCH1_000272" "g.98244227_98244228del" "" "{PMID:Boutet 2003:12925203}" "" "746+3_746+4delAA" "" "Unknown" "" "" "0" "" "" "g.95481945_95481946del" "" "pathogenic" "" "0000094535" "1" "90" "9" "98248006" "98248017" "del" "0" "00125" "PTCH1_000414" "g.98248006_98248017del" "" "{PMID:Guo 2013:24204797}" "" "534_545del12" "" "Unknown" "" "" "0" "" "" "g.95485724_95485735del" "" "pathogenic" "" "0000094537" "1" "90" "9" "98244227" "98244228" "del" "0" "00125" "PTCH1_000272" "g.98244227_98244228del" "" "{PMID:Boutet 2003:12925203}" "" "746+3_746+4delAA" "" "Unknown" "" "" "0" "" "" "g.95481945_95481946del" "" "pathogenic" "" "0000094538" "0" "90" "9" "98242858" "98242870" "del" "0" "00125" "PTCH1_000015" "g.98242858_98242870del" "" "{PMID:Aszterbaum 1998:09620294}" "" "747–759 del" "" "Unknown" "" "" "0" "" "" "g.95480576_95480588del" "" "pathogenic" "" "0000094539" "1" "90" "9" "98242840" "98242849" "del" "0" "00125" "PTCH1_000283" "g.98242840_98242849del" "" "{PMID:Song 2006:16675912}" "" "771_780del10" "" "Unknown" "" "" "0" "" "" "g.95480558_95480567del" "" "pathogenic" "" "0000094540" "0" "90" "9" "98242809" "98242809" "del" "0" "00125" "PTCH1_000425" "g.98242809del" "" "{PMID:Hasenpusche-Theil 1997:10200051}" "" "796delA" "" "Unknown" "" "" "0" "" "" "g.95480527del" "" "pathogenic" "" "0000094541" "1" "90" "9" "98242752" "98242752" "del" "0" "00125" "PTCH1_000013" "g.98242752del" "" "{PMID:Tanioka 2005:15565302}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480470del" "" "pathogenic" "" "0000094542" "1" "90" "9" "98242743" "98242743" "del" "0" "00125" "PTCH1_000226" "g.98242743del" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480461del" "" "pathogenic" "" "0000094543" "0" "90" "9" "98242731" "98242731" "del" "0" "00125" "PTCH1_000428" "g.98242731del" "" "{PMID:Aszterbaum 1998:09620294}" "" "T886del" "" "Unknown" "" "" "0" "" "" "g.95480449del" "" "pathogenic" "" "0000094544" "1" "90" "9" "98242714" "98242714" "del" "0" "00125" "PTCH1_000429" "g.98242714del" "" "{PMID:Skodric-Trifunovic 2015:25727044}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480432del" "" "pathogenic" "" "0000094545" "1" "90" "9" "98242705" "98242705" "del" "0" "00125" "PTCH1_000263" "g.98242705del" "" "{PMID:Fujii 2003:12655573}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480423del" "" "pathogenic" "" "0000094546" "1" "90" "9" "98242695" "98242695" "del" "0" "00125" "PTCH1_000192" "g.98242695del" "" "{PMID:Soufir 2006:16909134}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480413del" "" "pathogenic" "" "0000094547" "0" "90" "9" "98242676" "98242676" "del" "0" "00125" "PTCH1_000216" "g.98242676del" "" "{PMID:Wicking 1997:08981943},{PMID:Wicking 1997:9415689}" "" "929delC" "Both parents clinically and radiologically negative." "De novo" "" "" "0" "" "" "g.95480394del" "" "pathogenic" "" "0000094548" "0" "90" "9" "98242368" "98242368" "del" "0" "00125" "PTCH1_000017" "g.98242368del" "" "{PMID:Aszterbaum 1998:09620294}" "" "T950 del" "" "Unknown" "" "" "0" "" "" "g.95480086del" "" "pathogenic" "" "0000094549" "1" "90" "9" "98242338" "98242338" "del" "0" "00125" "PTCH1_000177" "g.98242338del" "" "{PMID:Fujii 2003:12655573}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480056del" "" "pathogenic" "" "0000094550" "1" "90" "9" "98242293" "98242293" "del" "0" "00125" "PTCH1_000227" "g.98242293del" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480011del" "" "pathogenic" "" "0000094551" "1" "90" "9" "98242275" "98242276" "del" "0" "00125" "PTCH1_000300" "g.98242275_98242276del" "" "{PMID:Pruvost-Balland 2006:16508594}" "" "1042_1043delAA" "" "Unknown" "" "" "0" "" "" "g.95479993_95479994del" "" "pathogenic" "" "0000094552" "1" "90" "9" "98241290" "98241291" "del" "0" "00125" "PTCH1_000051" "g.98241290_98241291del" "" "{PMID:Boutet 2003:12925203}" "" "1208_1209delAT" "" "Unknown" "" "" "0" "" "" "g.95479008_95479009del" "" "pathogenic" "" "0000094553" "0" "90" "9" "98241285" "98241289" "del" "0" "00125" "PTCH1_000548" "g.98241285_98241289del" "" "{PMID:Aszterbaum 1998:09620294}" "" "1208delATGTG" "" "Unknown" "" "" "0" "" "" "g.95479003_95479007del" "" "pathogenic" "" "0000094554" "1" "90" "9" "98240394" "98240394" "del" "0" "00125" "PTCH1_000314" "g.98240394del" "" "{PMID:Hellani 2009:19203369}" "" "" "" "Unknown" "" "" "0" "" "" "g.95478112del" "" "pathogenic" "" "0000094555" "1" "90" "9" "98240345" "98240348" "del" "0" "00125" "PTCH1_000228" "g.98240345_98240348del" "" "{PMID:Klein 2005:16301862}" "" "1340_1343delTACT" "" "Unknown" "" "" "0" "" "" "g.95478063_95478066del" "" "pathogenic" "" "0000094556" "1" "90" "9" "98240340" "98240343" "del" "0" "00125" "PTCH1_000317" "g.98240340_98240343del" "" "{PMID:Guo 2013:24204797}" "" "1342_1345delCTCA" "" "Unknown" "" "" "0" "" "" "g.95478058_95478061del" "" "pathogenic" "" "0000094557" "1" "90" "9" "98239967" "98239967" "del" "0" "00125" "PTCH1_000322" "g.98239967del" "" "{PMID:Pruvost-Balland 2006:16508594}" "" "" "" "Unknown" "" "" "0" "" "" "g.95477685del" "" "pathogenic" "" "0000094558" "1" "90" "9" "98239919" "98239919" "del" "0" "00125" "PTCH1_000282" "g.98239919del" "" "{PMID:Ragge 2005:16024850}" "" "" "" "Unknown" "" "" "0" "" "" "g.95477637del" "" "pathogenic" "" "0000094559" "1" "90" "9" "98239920" "98239923" "del" "0" "00125" "PTCH1_000114" "g.98239920_98239923del" "" "{PMID:Klein 2005:16301862}" "" "1416_1419delTGGC" "" "Unknown" "" "" "0" "" "" "g.95477638_95477641del" "" "pathogenic" "" "0000094560" "1" "90" "9" "98239860" "98239860" "del" "0" "00125" "PTCH1_000328" "g.98239860del" "" "{PMID:Sasaki 2010:19521425}" "" "" "" "Unknown" "" "" "0" "" "" "g.95477578del" "" "pathogenic" "" "0000094561" "1" "90" "9" "98239827" "98239834" "del" "0" "00125" "PTCH1_000101" "g.98239827_98239834del" "" "{PMID:Marsh 2005:16088933}" "" "1501_1503+5delCAGGTACT" "" "Unknown" "" "" "0" "" "" "g.95477545_95477552del" "" "pathogenic" "" "0000094562" "1" "90" "9" "98239141" "98239152" "del" "0" "00125" "PTCH1_000329" "g.98239141_98239152del" "" "{PMID:Savino 2004:15459969}" "" "1504-12_1504-1del12" "" "Unknown" "" "" "0" "" "" "g.95476859_95476870del" "" "pathogenic" "" "0000094563" "1" "90" "9" "98239104" "98239106" "del" "0" "00125" "PTCH1_000035" "g.98239104_98239106del" "" "{PMID:Lu 2008:18272036}" "" "1541_1543delATG" "" "Unknown" "" "" "0" "" "" "g.95476822_95476824del" "" "pathogenic" "" "0000094564" "1" "90" "9" "98238432" "98238432" "del" "0" "00125" "PTCH1_000446" "g.98238432del" "" "{PMID:Savino 2004:15459969}" "" "" "" "Unknown" "" "" "0" "" "" "g.95476150del" "" "pathogenic" "" "0000094565" "1" "90" "9" "98238375" "98238376" "del" "0" "00125" "PTCH1_000340" "g.98238375_98238376del" "" "{PMID:Takahashi 2009:19557015}" "" "1670_1671delCA" "" "Unknown" "" "" "0" "" "" "g.95476093_95476094del" "" "pathogenic" "" "0000094566" "1" "90" "9" "98238342" "98238342" "del" "0" "00125" "PTCH1_000141" "g.98238342del" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95476060del" "" "pathogenic" "" "0000094567" "1" "90" "9" "98231363" "98231363" "del" "0" "00125" "PTCH1_000344" "g.98231363del" "" "{PMID:Marsh 2005:16088933}" "" "" "" "Unknown" "" "" "0" "" "" "g.95469081del" "" "pathogenic" "" "0000094568" "1" "90" "9" "98231276" "98231276" "del" "0" "00125" "PTCH1_000264" "g.98231276del" "" "{PMID:Fujii 2003:12655573}" "" "" "" "Unknown" "" "" "0" "" "" "g.95468994del" "" "pathogenic" "" "0000094569" "1" "90" "9" "98231254" "98231254" "del" "0" "00125" "PTCH1_000348" "g.98231254del" "" "{PMID:Takahashi 2009:19557015}" "" "" "" "Unknown" "" "" "0" "" "" "g.95468972del" "" "pathogenic" "" "0000094570" "0" "90" "9" "98231151" "98231151" "del" "0" "00125" "PTCH1_000021" "g.98231151del" "" "{PMID:Aszterbaum 1998:09620294}" "" "T2132 del" "" "Unknown" "" "" "0" "" "" "g.95468869del" "" "pathogenic" "" "0000094571" "1" "90" "9" "98231104" "98231104" "del" "0" "00125" "PTCH1_000350" "g.98231104del" "" "{PMID:Pan 2009:20690502}" "" "" "" "Unknown" "" "" "0" "" "" "g.95468822del" "" "pathogenic" "" "0000094572" "0" "90" "9" "98231088" "98231089" "del" "0" "00125" "PTCH1_000245" "g.98231088_98231089del" "" "{PMID:Wicking 1997:08981943},{PMID:Wicking 1997:9415689}" "" "2183delTC" "Father has high arched palate, macrocephaly, and three ‘‘pits’’ on soles but radiologically negative; mother clinically and radiologically negative." "De novo" "" "" "0" "" "" "g.95468806_95468807del" "" "pathogenic" "" "0000094573" "1" "90" "9" "98229675" "98229675" "del" "0" "00125" "PTCH1_000354" "g.98229675del" "" "{PMID:Savino 2004:15459969}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467393del" "" "pathogenic" "" "0000094574" "1" "90" "9" "98229652" "98229652" "del" "0" "00125" "PTCH1_000142" "g.98229652del" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467370del" "" "pathogenic" "" "0000094575" "1" "90" "9" "98229639" "98229642" "del" "0" "00125" "PTCH1_000355" "g.98229639_98229642del" "" "{PMID:Valdivielso-Ramos 2014:24635088}" "" "2316_2319delAGAC" "" "Unknown" "" "" "0" "" "" "g.95467357_95467360del" "" "pathogenic" "" "0000094576" "11" "90" "9" "98229566" "98229566" "del" "0" "00125" "PTCH1_000359" "g.98229566del" "" "{PMID:Minami 2001:11457640}" "" "2395delT" "" "Germline" "yes" "" "0" "" "" "g.95467284del" "" "pathogenic" "" "0000094577" "0" "90" "9" "98229554" "98229554" "del" "0" "00125" "PTCH1_000246" "g.98229554del" "" "{PMID:Wicking 1997:08981943}" "" "2392delA" "" "Unknown" "" "" "0" "" "" "g.95467272del" "" "pathogenic" "" "0000094578" "1" "90" "9" "98229522" "98229522" "del" "0" "00125" "PTCH1_000143" "g.98229522del" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467240del" "" "pathogenic" "" "0000094579" "0" "90" "9" "98229506" "98229516" "del" "0" "00125" "PTCH1_000258" "g.98229506_98229516del" "" "{PMID:Johnson 1996:08658145}" "" "2442_2452del11" "" "De novo" "" "" "0" "" "" "g.95467224_95467234del" "" "pathogenic" "" "0000094580" "1" "90" "9" "98229497" "98229514" "del" "0" "00125" "PTCH1_000362" "g.98229497_98229514del" "" "{PMID:Soufir 2006:16909134}" "" "2444_2461del18" "" "Unknown" "" "" "0" "" "" "g.95467215_95467232del" "" "pathogenic" "" "0000094581" "1" "90" "9" "98229510" "98229512" "del" "0" "00125" "PTCH1_000276" "g.98229510_98229512del" "" "{PMID:Chidambaram 1996:08840969}" "" "2434del3 (delQ815)" "" "Germline" "yes" "" "0" "" "" "g.95467228_95467230del" "" "pathogenic" "" "0000094582" "1" "90" "9" "98224268" "98224268" "del" "0" "00125" "PTCH1_000144" "g.98224268del" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95461986del" "" "pathogenic" "" "0000094583" "1" "90" "9" "98224259" "98224265" "del" "0" "00125" "PTCH1_000286" "g.98224259_98224265del" "" "{PMID:Savino 2004:15459969}" "" "2577_2583delTGACAGT" "" "Unknown" "" "" "0" "" "" "g.95461977_95461983del" "" "pathogenic" "" "0000094584" "0" "90" "9" "98224259" "98224259" "del" "0" "00125" "PTCH1_000145" "g.98224259del" "" "{PMID:Seracchioli 2001:11387302}" "" "" "" "Unknown" "" "" "0" "" "" "g.95461977del" "" "pathogenic" "" "0000094585" "0" "90" "9" "98224252" "98224255" "del" "0" "00125" "PTCH1_000247" "g.98224252_98224255del" "" "{PMID:Wicking 1997:08981943}" "" "2574del4" "" "Unknown" "" "" "0" "" "" "g.95461970_95461973del" "" "pathogenic" "" "0000094586" "0" "90" "9" "98224247" "98224247" "del" "0" "00125" "PTCH1_000219" "g.98224247del" "" "{PMID:Hahn 1996:08681379}" "" "2583delC" "deletion inferred from other published mutations in this paper." "Unknown" "" "" "0" "" "" "g.95461965del" "" "pathogenic" "" "0000094587" "1" "90" "9" "98224229" "98224232" "del" "0" "00125" "PTCH1_000106" "g.98224229_98224232del" "" "{PMID:Marsh 2005:16088933}" "" "2612_2615delACAA" "" "Unknown" "" "" "0" "" "" "g.95461947_95461950del" "" "pathogenic" "" "0000094588" "1" "90" "9" "98224228" "98224228" "del" "0" "00125" "PTCH1_000369" "g.98224228del" "" "{PMID:Tate 2003:12604725}" "" "" "" "Unknown" "" "" "0" "" "" "g.95461946del" "" "pathogenic" "" "0000094589" "0" "90" "9" "98222050" "98222050" "del" "0" "00125" "PTCH1_000220" "g.98222050del" "" "{PMID:Wicking 1997:9415689}" "" "2707delC" "" "Unknown" "" "" "0" "" "" "g.95459768del" "" "pathogenic" "" "0000094590" "1" "90" "9" "98221987" "98221987" "del" "0" "00125" "PTCH1_000374" "g.98221987del" "" "PTCH1 LSDB, 2008 unpublished" "" "" "" "Unknown" "" "" "0" "" "" "g.95459705del" "" "pathogenic" "" "0000094591" "1" "90" "9" "98221971" "98221971" "del" "0" "00125" "PTCH1_000023" "g.98221971del" "" "{PMID:Aszterbaum 1998:09620294}" "" "C2798 del" "" "Unknown" "" "" "0" "" "" "g.95459689del" "" "pathogenic" "" "0000094592" "1" "90" "9" "98221946" "98221946" "del" "0" "00125" "PTCH1_000376" "g.98221946del" "" "{PMID:Pan 2009:20690502}" "" "" "" "Unknown" "" "" "0" "" "" "g.95459664del" "" "pathogenic" "" "0000094593" "1" "90" "9" "98220541" "98220541" "del" "0" "00125" "PTCH1_000146" "g.98220541del" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458259del" "" "pathogenic" "" "0000094594" "1" "90" "9" "98220470" "98220470" "del" "0" "00125" "PTCH1_000381" "g.98220470del" "" "{PMID:Pruvost-Balland 2006:16508594}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458188del" "" "pathogenic" "" "0000094595" "1" "90" "9" "98220458" "98220463" "del" "0" "00125" "PTCH1_000288" "g.98220458_98220463del" "" "{PMID:Pastorino 2005:15712338}" "" "3000_3005delCTATAC" "" "Unknown" "" "" "0" "" "" "g.95458176_95458181del" "" "pathogenic" "" "0000094596" "1" "90" "9" "98220457" "98220464" "del" "0" "00125" "PTCH1_000118" "g.98220457_98220464del" "" "{PMID:Lench 1997:09341860}" "" "2988del8" "" "Unknown" "" "" "0" "" "" "g.95458175_95458182del" "" "pathogenic" "" "0000094597" "1" "90" "9" "98220447" "98220447" "del" "0" "00125" "PTCH1_000008" "g.98220447del" "" "{PMID:Tanioka 2005:15565302}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458165del" "" "pathogenic" "" "0000094598" "1" "90" "9" "98220436" "98220436" "del" "0" "00125" "PTCH1_000383" "g.98220436del" "" "{PMID:Kool 2014:24651015}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458154del" "" "pathogenic" "" "0000094599" "1" "90" "9" "98220424" "98220424" "del" "0" "00125" "PTCH1_000059" "g.98220424del" "" "{PMID:Boutet 2003:12925203}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458142del" "" "pathogenic" "" "0000094600" "1" "90" "9" "98220412" "98220413" "del" "0" "00125" "PTCH1_000040" "g.98220412_98220413del" "" "{PMID:Pastorino 2005:15712338}" "" "3051_3052delCT" "" "Unknown" "" "" "0" "" "" "g.95458130_95458131del" "" "pathogenic" "" "0000094601" "1" "90" "9" "98220410" "98220410" "del" "0" "00125" "PTCH1_000384" "g.98220410del" "" "{PMID:Jimbo 2014:24257914}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458128del" "" "pathogenic" "" "0000094602" "1" "90" "9" "98218681" "98218686" "del" "0" "00125" "PTCH1_000389" "g.98218681_98218686del" "" "{PMID:Guo 2013:24204797}" "" "3181_3186delGCGCTG" "" "Unknown" "" "" "0" "" "" "g.95456399_95456404del" "" "pathogenic" "" "0000094603" "0" "90" "9" "98218620" "98218625" "del" "0" "00125" "PTCH1_000393" "g.98218620_98218625del" "" "{PMID:Unden 1996:08840960}" "" "3232del6" "" "Unknown" "yes" "" "0" "" "" "g.95456338_95456343del" "" "pathogenic" "" "0000094604" "1" "90" "9" "98218584" "98218584" "del" "0" "00125" "PTCH1_000147" "g.98218584del" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95456302del" "" "pathogenic" "" "0000094605" "0" "90" "9" "98215844" "98215845" "del" "0" "00125" "PTCH1_000148" "g.98215844_98215845del" "" "{PMID:Wicking 1997:08981943}" "" "3352delAT" "" "Unknown" "" "" "0" "" "" "g.95453562_95453563del" "" "pathogenic" "" "0000094606" "0" "90" "9" "98215840" "98215849" "del" "0" "00125" "PTCH1_000029" "g.98215840_98215849del" "" "{PMID:Aszterbaum 1998:09620294}" "" "3364del10" "" "Unknown" "" "" "0" "" "" "g.95453558_95453567del" "" "pathogenic" "" "0000094607" "1" "90" "9" "98215838" "98215838" "del" "0" "00125" "PTCH1_000149" "g.98215838del" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95453556del" "" "pathogenic" "" "0000094608" "1" "90" "9" "98215836" "98215836" "del" "0" "00125" "PTCH1_000073" "g.98215836del" "" "{PMID:Savino 2004:15459969}" "" "" "" "Unknown" "" "" "0" "" "" "g.95453554del" "" "pathogenic" "" "0000094609" "1" "90" "9" "98212198" "98212198" "del" "0" "00125" "PTCH1_000403" "g.98212198del" "" "{PMID:Kitsiou-Tzeli 2011:21950490}" "" "" "" "Unknown" "" "" "0" "" "" "g.95449916del" "" "pathogenic" "" "0000094610" "1" "90" "9" "98212143" "98212146" "del" "0" "00125" "PTCH1_000405" "g.98212143_98212146del" "" "{PMID:Marsh 2005:16088933}" "" "3531_3534delCTTT" "" "Unknown" "" "" "0" "" "" "g.95449861_95449864del" "" "pathogenic" "" "0000094611" "11" "90" "9" "98211606" "98211606" "del" "0" "00125" "PTCH1_000215" "g.98211606del" "" "{PMID:Lench 1997:09341860}" "" "3538delG" "" "Germline" "" "" "0" "" "" "g.95449324del" "" "pathogenic" "" "0000094612" "1" "90" "9" "98268803" "98268803" "dup" "0" "00125" "PTCH1_000048" "g.98268803dup" "" "{PMID:Boutet 2003:12925203}" "" "" "" "Unknown" "" "" "0" "" "" "g.95506521dup" "" "pathogenic" "" "0000094613" "0" "90" "9" "98268802" "98268802" "dup" "0" "00125" "PTCH1_000213" "g.98268802dup" "" "{PMID:Chidambaram 1996:08840969}" "" "269insT" "" "Germline" "" "" "0" "" "" "g.95506520dup" "" "pathogenic" "" "0000094614" "0" "90" "9" "98268799" "98268799" "dup" "0" "00125" "PTCH1_000224" "g.98268799dup" "" "{PMID:Wicking 1997:08981943},{PMID:Wicking 1997:9415689}" "" "271insA" "Negative family history but neither parent examined." "De novo" "" "" "0" "" "" "g.95506517dup" "" "pathogenic" "" "0000094615" "1" "90" "9" "98268759" "98268760" "ins" "0" "00125" "PTCH1_000391" "g.98268759_98268760insTC" "" "{PMID:Pastorino 2005:15712338}" "" "323_324insGA" "" "Unknown" "" "" "0" "" "" "g.95506477_95506478insTC" "" "pathogenic" "" "0000094616" "1" "90" "9" "98248125" "98248125" "dup" "0" "00125" "PTCH1_000410" "g.98248125dup" "" "Okamoto 2014 Hum Genome Var 1" "" "426dupT" "" "Unknown" "" "" "0" "" "" "g.95485843dup" "" "pathogenic" "" "0000094617" "0" "90" "9" "98248073" "98248074" "dup" "0" "00125" "PTCH1_000412" "g.98248073_98248074dup" "" "{PMID:Wicking 1997:08981943}" "" "464insAC" "" "Unknown" "" "" "0" "" "" "g.95485791_95485792dup" "" "pathogenic" "" "0000094618" "0" "90" "9" "98244272" "98244272" "dup" "0" "00125" "PTCH1_000214" "g.98244272dup" "" "{PMID:Lench 1997:09341860}" "" "693insC" "" "Unknown" "" "" "0" "" "" "g.95481990dup" "" "pathogenic" "" "0000094619" "1" "90" "9" "98242800" "98242800" "dup" "0" "00125" "PTCH1_000273" "g.98242800dup" "" "{PMID:Lee 2007:16780502}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480518dup" "" "pathogenic" "" "0000094620" "0" "90" "9" "98242752" "98242752" "dup" "0" "00125" "PTCH1_000212" "g.98242752dup" "" "{PMID:Chidambaram 1996:08840969}" "" "853insC" "" "Unknown" "" "" "0" "" "" "g.95480470dup" "" "pathogenic" "" "0000094621" "1" "90" "9" "98242698" "98242698" "dup" "0" "00125" "PTCH1_000430" "g.98242698dup" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480416dup" "" "pathogenic" "" "0000094622" "1" "90" "9" "98242686" "98242686" "dup" "0" "00125" "PTCH1_000431" "g.98242686dup" "" "{PMID:Pastorino 2012:15712338}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480404dup" "" "pathogenic" "" "0000094623" "1" "90" "9" "98242363" "98242363" "dup" "0" "00125" "PTCH1_000432" "g.98242363dup" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95480081dup" "" "pathogenic" "" "0000094624" "1" "90" "9" "98242291" "98242292" "dup" "0" "00125" "PTCH1_000223" "g.98242291_98242292dup" "" "{PMID:Savino 2004:15459969}" "" "1028_1029dupTG" "" "Unknown" "" "" "0" "" "" "g.95480009_95480010dup" "" "pathogenic" "" "0000094625" "1" "90" "9" "98242273" "98242276" "dup" "0" "00125" "PTCH1_000279" "g.98242273_98242276dup" "" "{PMID:Musani 2006:16596257}" "" "1043_1046dupAGAA" "" "Unknown" "" "" "0" "" "" "g.95479991_95479994dup" "" "pathogenic" "" "0000094626" "1" "90" "9" "98241390" "98241398" "dup" "0" "00125" "PTCH1_000205" "g.98241390_98241398dup" "" "{PMID:Klein 2005:16301862}" "" "1100_1108dupTGACTCCCA" "" "Unknown" "" "" "0" "" "" "g.95479108_95479116dup" "" "pathogenic" "" "0000094627" "0" "90" "9" "98241353" "98241353" "dup" "0" "00125" "PTCH1_000018" "g.98241353dup" "" "{PMID:Aszterbaum 1998:09620294}" "" "G1144 ins" "" "Unknown" "" "" "0" "" "" "g.95479071dup" "" "pathogenic" "" "0000094628" "1" "90" "9" "98241290" "98241290" "dup" "0" "00125" "PTCH1_000310" "g.98241290dup" "" "Miyata 2015 Hum Genome Var 2" "" "c.1207dupT" "" "De novo" "" "" "0" "" "" "g.95479008dup" "" "pathogenic" "" "0000094629" "1" "90" "9" "98240425" "98240425" "dup" "0" "00125" "PTCH1_000022" "g.98240425dup" "" "{PMID:Fujii 2003:12655573}" "" "" "" "Unknown" "" "" "0" "" "" "g.95478143dup" "" "pathogenic" "" "0000094630" "1" "90" "9" "98240345" "98240346" "ins" "0" "00125" "PTCH1_000107" "g.98240345_98240346insCGC" "" "{PMID:Gu 2006:16931872}" "" "1338_1339insGCG" "" "Unknown" "" "" "0" "" "" "g.95478063_95478064insCGC" "" "pathogenic" "" "0000094631" "1" "90" "9" "98239983" "98239983" "dup" "0" "00125" "PTCH1_000280" "g.98239983dup" "" "{PMID:Genevieve 2005:16231297}" "" "" "" "Unknown" "" "" "0" "" "" "g.95477701dup" "" "pathogenic" "" "0000094632" "1" "90" "9" "98239962" "98239962" "dup" "0" "00125" "PTCH1_000124" "g.98239962dup" "" "{PMID:Tostar 2006:16294371}" "" "" "" "Unknown" "" "" "0" "" "" "g.95477680dup" "" "pathogenic" "" "0000094633" "1" "90" "9" "98239920" "98239923" "dup" "0" "00125" "PTCH1_000324" "g.98239920_98239923dup" "" "{PMID:Nagao 2005:16203740}" "" "1416_1419dupTGGC" "" "Unknown" "" "" "0" "" "" "g.95477638_95477641dup" "" "pathogenic" "" "0000094634" "1" "90" "9" "98239871" "98239872" "dup" "0" "00125" "PTCH1_000326" "g.98239871_98239872dup" "" "{PMID:Klein 2005:16301862}" "" "1462_1463dupTG" "" "Unknown" "" "" "0" "" "" "g.95477589_95477590dup" "" "pathogenic" "" "0000094635" "20" "90" "9" "98239865" "98239865" "dup" "0" "00125" "PTCH1_000327" "g.98239865dup" "" "{PMID:Lam 2002:12175781}" "" "1468insA" "" "Unknown" "" "" "0" "" "" "g.95477583dup" "" "pathogenic" "" "0000094636" "0" "90" "9" "98239127" "98239134" "dup" "0" "00125" "PTCH1_000331" "g.98239127_98239134dup" "" "{PMID:Wicking 1997:08981943}" "" "1497dup8" "duplication inferred from other published mutations in this paper" "Unknown" "" "" "0" "" "" "g.95476845_95476852dup" "" "pathogenic" "" "0000094637" "0" "90" "9" "98238393" "98238393" "dup" "0" "00125" "PTCH1_000217" "g.98238393dup" "" "{PMID:Wicking 1997:9415689}" "" "1639insA" "" "Unknown" "" "" "0" "" "" "g.95476111dup" "" "pathogenic" "" "0000094638" "0" "90" "9" "98238323" "98238323" "dup" "0" "00125" "PTCH1_000218" "g.98238323dup" "" "{PMID:Wicking 1997:9415689}" "" "1711insC" "Father has high arched palate and has had about 20 BCC (from age 70) but also multiple solar keratoses, keratoacanthoma, and squamous cell carcinomas; he is radiologically negative; mother clinically and radiologically negative." "De novo" "" "" "0" "" "" "g.95476041dup" "" "pathogenic" "" "0000094639" "1" "90" "9" "98232203" "98232211" "dup" "0" "00125" "PTCH1_000100" "g.98232203_98232211dup" "" "{PMID:Marsh 2005:16088933}" "" "1733_1741dupCGGTAGTAG" "" "Unknown" "" "" "0" "" "" "g.95469921_95469929dup" "" "pathogenic" "" "0000094640" "1" "90" "9" "98232170" "98232170" "dup" "0" "00125" "PTCH1_000342" "g.98232170dup" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95469888dup" "" "pathogenic" "" "0000094641" "1" "90" "9" "98231363" "98231363" "dup" "0" "00125" "PTCH1_000345" "g.98231363dup" "" "{PMID:Pruvost-balland 2006:16508594}" "" "" "" "Unknown" "" "" "0" "" "" "g.95469081dup" "" "pathogenic" "" "0000094642" "0" "90" "9" "98231276" "98231276" "dup" "0" "00125" "PTCH1_000268" "g.98231276dup" "" "{PMID:Hahn 1996:08681379}" "" "2000insC" "" "De novo" "" "" "0" "" "" "g.95468994dup" "" "pathogenic" "" "0000094643" "1" "90" "9" "98231271" "98231272" "dup" "0" "00125" "PTCH1_000204" "g.98231271_98231272dup" "" "{PMID:Pastorino 2005:15712338}" "" "2014_2015dupAC" "" "Unknown" "" "" "0" "" "" "g.95468989_95468990dup" "" "pathogenic" "" "0000094644" "1" "90" "9" "98231228" "98231229" "dup" "0" "00125" "PTCH1_000269" "g.98231228_98231229dup" "" "{PMID:Hahn 1996:08681379}" "" "2047insCT" "insertion inferred from other published mutations in this paper" "Germline" "" "" "0" "" "" "g.95468946_95468947dup" "" "pathogenic" "" "0000094645" "1" "90" "9" "98231110" "98231110" "dup" "0" "00125" "PTCH1_000056" "g.98231110dup" "" "{PMID:Boutet 2003:12925203}" "" "" "" "Unknown" "" "" "0" "" "" "g.95468828dup" "" "pathogenic" "" "0000094646" "1" "90" "9" "98229696" "98229702" "dup" "0" "00125" "PTCH1_000079" "g.98229696_98229702dup" "" "{PMID:Muramatsu 2005:15840128}" "" "2256_2262dupGGTGATC" "" "Unknown" "" "" "0" "" "" "g.95467414_95467420dup" "" "pathogenic" "" "0000094647" "1" "90" "9" "98229680" "98229680" "dup" "0" "00125" "PTCH1_000156" "g.98229680dup" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467398dup" "" "pathogenic" "" "0000094648" "1" "90" "9" "98229626" "98229626" "dup" "0" "00125" "PTCH1_000084" "g.98229626dup" "" "{PMID:Wicking 1997:08981943}" "" "2320insA" "" "Germline" "" "" "0" "" "" "g.95467344dup" "" "pathogenic" "" "0000094649" "11" "90" "9" "98229567" "98229567" "dup" "0" "00125" "PTCH1_000358" "g.98229567dup" "" "{PMID:Lam 2002:12175781}" "" "2392insC" "" "Germline" "yes" "" "0" "" "" "g.95467285dup" "" "pathogenic" "" "0000094650" "1" "90" "9" "98229514" "98229522" "dup" "0" "00125" "PTCH1_000257" "g.98229514_98229522dup" "" "{PMID:Johnson 1996:08658145}" "" "2445insCCGAATATC" "" "Germline" "yes" "" "0" "" "" "g.95467232_95467240dup" "" "pathogenic" "" "0000094651" "1" "90" "9" "98229504" "98229504" "dup" "0" "00125" "PTCH1_000009" "g.98229504dup" "" "{PMID:Tanioka 2005:15565302}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467222dup" "" "pathogenic" "" "0000094652" "1" "90" "9" "98229495" "98229495" "dup" "0" "00125" "PTCH1_000364" "g.98229495dup" "" "{PMID:Guo 2013:24204797}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467213dup" "" "pathogenic" "" "0000094653" "1" "90" "9" "98229422" "98229423" "dup" "0" "00125" "PTCH1_000365" "g.98229422_98229423dup" "" "{PMID:Pastorino 2005:15712338}" "" "2535_2536dupGC" "" "Unknown" "" "" "0" "" "" "g.95467140_95467141dup" "" "pathogenic" "" "0000094654" "1" "90" "9" "98222059" "98222059" "dup" "0" "00125" "PTCH1_000178" "g.98222059dup" "" "{PMID:Fujii 2011:12655573}" "" "" "" "Unknown" "" "" "0" "" "" "g.95459777dup" "" "pathogenic" "" "0000094655" "1" "90" "9" "98222044" "98222045" "ins" "0" "00125" "PTCH1_000372" "g.98222044_98222045insA" "" "{PMID:Nagao 2005:16203740}" "" "2724_2725insT" "" "Unknown" "" "" "0" "" "" "g.95459762_95459763insA" "" "pathogenic" "" "0000094656" "1" "90" "9" "98222027" "98222033" "dup" "0" "00125" "PTCH1_000195" "g.98222027_98222033dup" "" "{PMID:Soufir 2006:16909134}" "" "2736_2742dupCATCATT" "" "Unknown" "" "" "0" "" "" "g.95459745_95459751dup" "" "pathogenic" "" "0000094657" "1" "90" "9" "98222009" "98222009" "dup" "0" "00125" "PTCH1_000086" "g.98222009dup" "" "{PMID:Wicking 1997:08981943}" "" "2748insC" "" "Germline" "" "" "0" "" "" "g.95459727dup" "" "pathogenic" "" "0000094658" "1" "90" "9" "98222003" "98222009" "dup" "0" "00125" "PTCH1_000373" "g.98222003_98222009dup" "" "{PMID:Wicking 1997:08981943}" "" "2749dup7" "duplication inferred from other published mutations in this paper" "Germline" "" "" "0" "" "" "g.95459721_95459727dup" "" "pathogenic" "" "0000094659" "0" "90" "9" "98221972" "98221976" "dup" "0" "00125" "PTCH1_000236" "g.98221972_98221976dup" "" "{PMID:Unden 1996:08840960}" "" "2788ins5" "" "Unknown" "yes" "" "0" "" "" "g.95459690_95459694dup" "" "pathogenic" "" "0000094660" "1" "90" "9" "98220538" "98220545" "dup" "0" "00125" "PTCH1_000044" "g.98220538_98220545dup" "" "{PMID:Matsuzawa 2006:17021131}" "" "2918_2925dupAGTTCCCT" "" "Unknown" "" "" "0" "" "" "g.95458256_95458263dup" "" "pathogenic" "" "0000094661" "1" "90" "9" "98220503" "98220504" "dup" "0" "00125" "PTCH1_000193" "g.98220503_98220504dup" "" "{PMID:Soufir 2006:16909134}" "" "2960_2961dupTT" "" "Unknown" "" "" "0" "" "" "g.95458221_95458222dup" "" "pathogenic" "" "0000094662" "1" "90" "9" "98220439" "98220439" "dup" "0" "00125" "PTCH1_000382" "g.98220439dup" "" "{PMID:Garcia-Oguiza 2006:16883514}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458157dup" "" "pathogenic" "" "0000094663" "1" "90" "9" "98220437" "98220437" "dup" "0" "00125" "PTCH1_000119" "g.98220437dup" "" "{PMID:Lench 1997:09341860}" "" "3014insA" "" "Unknown" "" "" "0" "" "" "g.95458155dup" "" "pathogenic" "" "0000094664" "0" "90" "9" "98220359" "98220359" "dup" "0" "00125" "PTCH1_000025" "g.98220359dup" "" "{PMID:Aszterbaum 1998:09620294}" "" "3104T ins" "" "Unknown" "" "" "0" "" "" "g.95458077dup" "" "pathogenic" "" "0000094665" "1" "90" "9" "98220334" "98220335" "dup" "0" "00125" "PTCH1_000386" "g.98220334_98220335dup" "" "{PMID:Nagao 2005:16203740}" "" "3130_3131dupGC" "" "Unknown" "" "" "0" "" "" "g.95458052_95458053dup" "" "pathogenic" "" "0000094666" "1" "90" "9" "98218618" "98218620" "dup" "0" "00125" "PTCH1_000392" "g.98218618_98218620dup" "" "{PMID:Sun 2008:18502968}" "" "3244_3246dupCCC" "" "Unknown" "" "" "0" "" "" "g.95456336_95456338dup" "" "pathogenic" "" "0000094667" "0" "90" "9" "98218615" "98218617" "dup" "0" "00125" "PTCH1_000260" "g.98218615_98218617dup" "" "{PMID:Aszterbaum 1998:09620294}" "" "GTG 3246 ins" "" "Unknown" "" "" "0" "" "" "g.95456333_95456335dup" "" "pathogenic" "" "0000094668" "1" "90" "9" "98215884" "98215884" "dup" "0" "00125" "PTCH1_000399" "g.98215884dup" "" "{PMID:Kool 2014:24651015}" "" "" "" "Unknown" "" "" "0" "" "" "g.95453602dup" "" "pathogenic" "" "0000094669" "1" "90" "9" "98215881" "98215884" "dup" "0" "00125" "PTCH1_000398" "g.98215881_98215884dup" "" "{PMID:Sasaki 2009:19521425}" "" "3325_3328dupGGCG" "" "Unknown" "" "" "0" "" "" "g.95453599_95453602dup" "" "pathogenic" "" "0000094670" "1" "90" "9" "98268819" "98268823" "delins" "0" "00125" "PTCH1_000270" "g.98268819_98268823delinsTT" "" "{PMID:Boutet 2003:12925203}" "" "260_264delTATTTinsAA" "" "Unknown" "" "" "0" "" "" "g.95506537_95506541delinsTT" "" "pathogenic" "" "0000094671" "1" "90" "9" "98268793" "98268794" "delins" "0" "00125" "PTCH1_000211" "g.98268793_98268794delinsG" "" "{PMID:Chidambaram 1996:08840969}" "" "277AA>C" "" "Germline" "" "" "0" "" "" "g.95506511_95506512delinsG" "" "pathogenic" "" "0000094672" "1" "90" "9" "98244234" "98244235" "delins" "0" "00125" "PTCH1_000271" "g.98244234_98244235delinsCTCC" "" "{PMID:Boutet 2003:12925203}" "" "742_743delCTinsGGAG" "" "Unknown" "" "" "0" "" "" "g.95481952_95481953delinsCTCC" "" "pathogenic" "" "0000094673" "1" "90" "9" "98241360" "98241361" "delins" "0" "00125" "PTCH1_000304" "g.98241360_98241361delinsTC" "" "{PMID:Prodinger 2010:20609239}" "" "1136_1137delACinsGA" "" "Unknown" "" "" "0" "" "" "g.95479078_95479079delinsTC" "" "pathogenic" "" "0000094674" "1" "90" "9" "98241303" "98241303" "delins" "0" "00125" "PTCH1_000055" "g.98241303delinsCATAT" "" "{PMID:Boutet 2003:12925203}" "" "1194delCinsATATG" "" "Unknown" "" "" "0" "" "" "g.95479021delinsCATAT" "" "pathogenic" "" "0000094675" "1" "90" "9" "98239861" "98239862" "delins" "0" "00125" "PTCH1_000098" "g.98239861_98239862delinsAA" "" "{PMID:Marsh 2005:16088933}" "" "1470_1471delGAinsTT" "" "Unknown" "" "" "0" "" "" "g.95477579_95477580delinsAA" "" "pathogenic" "" "0000094676" "1" "90" "9" "98239125" "98239128" "inv" "0" "00125" "PTCH1_000333" "g.98239125_98239128inv" "" "{PMID:Savino 2004:15459969}" "" "1515_1518delTCTCinsGAGA" "" "Unknown" "" "" "0" "" "" "g.95476843_95476846inv" "" "pathogenic" "" "0000094677" "1" "90" "9" "98238380" "98238380" "delins" "0" "00125" "PTCH1_000099" "g.98238380delinsCTGCTGC" "" "{PMID:Marsh 2005:16088933}" "" "1664delAinsGCAGCAG" "" "Unknown" "" "" "0" "" "" "g.95476098delinsCTGCTGC" "" "pathogenic" "" "0000094678" "1" "90" "9" "98238324" "98238324" "delins" "0" "00125" "PTCH1_000105" "g.98238324delinsGG" "" "{PMID:Marsh 2005:16088933}" "" "1720delTinsCC" "" "Unknown" "" "" "0" "" "" "g.95476042delinsGG" "" "pathogenic" "" "0000094679" "1" "90" "9" "98212129" "98212132" "delins" "0" "00125" "PTCH1_000097" "g.98212129_98212132delinsGGA" "" "{PMID:Klein 2005:16301862}" "" "3540_3543delATATinsTCC" "" "Unknown" "" "" "0" "" "" "g.95449847_95449850delinsGGA" "" "pathogenic" "" "0000094680" "1" "90" "9" "98205264" "98224281" "del" "0" "00125" "PTCH1_000294" "g.98205264_98224281del" "" "{PMID:Aradhya 2012:22382802}" "" "16-24 deletion" "" "Unknown" "" "" "0" "" "" "g.95442982_95461999del" "" "pathogenic" "" "0000094681" "1" "90" "9" "98205264" "98270831" "del" "0" "00125" "PTCH1_000292" "g.98205264_98270831del" "" "{PMID:Aradhya 2012:22382802}" "" "whole PTCH1 gene deletion" "" "Unknown" "" "" "0" "" "" "g.95442982_95508549del" "" "pathogenic" "" "0000094682" "1" "90" "9" "98229397" "98232214" "del" "0" "00125" "PTCH1_000293" "g.98229397_98232214del" "" "{PMID:Aradhya 2012:22382802}" "" "" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000094683" "1" "90" "9" "98212122" "98218696" "del" "0" "00125" "PTCH1_000295" "g.98212122_98218696del" "" "{PMID:Aradhya 2012:22382802}" "" "exon 19-22 deletion" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000094684" "1" "90" "9" "98205264" "98211606" "del" "0" "00125" "PTCH1_000296" "g.98205264_98211606del" "" "{PMID:Aradhya 2012:22382802}" "" "" "" "Unknown" "" "" "0" "" "" "g.95442982_95449324del" "" "pathogenic" "" "0000094685" "1" "90" "9" "98205264" "98270831" "del" "0" "00125" "PTCH1_000292" "g.98205264_98270831del" "" "{PMID:Fujii 2007:12655573}" "" "" "" "Unknown" "" "" "0" "" "" "g.95442982_95508549del" "" "pathogenic" "" "0000094686" "1" "90" "9" "98696759" "105723255" "del" "0" "00125" "PTCH1_000000" "g.98696759_105723255del" "" "{PMID:Ibn-Salem 2014:25315429}" "" "5\' adjecent to gene" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000094687" "1" "90" "9" "98205264" "98270831" "del" "0" "00125" "PTCH1_000292" "g.98205264_98270831del" "" "{PMID:Nagao 2011:16203740}" "" "" "" "Unknown" "" "" "0" "" "" "g.95442982_95508549del" "" "pathogenic" "" "0000094688" "1" "90" "9" "98205264" "98270831" "" "0" "00125" "PTCH1_000292" "g.(?_98205264)_(98270831_?)del" "" "{PMID:Takahashi 2009:19557015}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000094689" "1" "90" "9" "98205264" "98270831" "del" "0" "00125" "PTCH1_000292" "g.98205264_98270831del" "" "{PMID:Garavelli 2013:24124115}" "" "whole PTCH1 gene deletion" "" "Unknown" "" "" "0" "" "" "g.95442982_95508549del" "" "pathogenic" "" "0000094690" "1" "90" "9" "98205264" "98270831" "del" "0" "00125" "PTCH1_000292" "g.98205264_98270831del" "" "{PMID:Fujii 2007:12655573}" "" "" "" "Unknown" "" "" "0" "" "" "g.95442982_95508549del" "" "pathogenic" "" "0000094691" "1" "90" "9" "98205264" "98270831" "del" "0" "00125" "PTCH1_000292" "g.98205264_98270831del" "" "{PMID:Boonen 2005:15690381}" "" "" "" "Unknown" "" "" "0" "" "" "g.95442982_95508549del" "" "pathogenic" "" "0000094692" "1" "90" "9" "98205264" "98270831" "del" "0" "00125" "PTCH1_000292" "g.98205264_98270831del" "" "{PMID:Nagao 2011:16203740}" "" "" "" "Unknown" "" "" "0" "" "" "g.95442982_95508549del" "" "pathogenic" "" "0000094693" "1" "90" "9" "98240356" "98240376" "del" "0" "00125" "PTCH1_000315" "g.98240356_98240376del" "" "{PMID:Klein 2005:16301862}" "" "" "" "Unknown" "" "" "0" "" "" "g.95478074_95478094del" "" "pathogenic" "" "0000094694" "1" "90" "9" "98218595" "98218616" "del" "0" "00125" "PTCH1_000002" "g.98218595_98218616del" "" "{PMID:Delbroek 2011:21190878}" "" "" "" "Unknown" "" "" "0" "" "" "g.95456313_95456334del" "" "pathogenic" "" "0000094695" "21" "90" "9" "98268796" "98268818" "del" "0" "00125" "PTCH1_000234" "g.98268796_98268818del" "" "{PMID:Unden 1996:08840960}" "" "253del23" "" "Germline" "yes" "" "0" "" "" "g.95506514_95506536del" "" "pathogenic" "" "0000094696" "1" "90" "9" "98242765" "98242801" "del" "0" "00125" "PTCH1_000424" "g.98242765_98242801del" "" "{PMID:Hahn 1996:08681379}" "" "del 804-840" "deletion inferred from other published mutations in this paper" "Germline" "" "" "0" "" "" "g.95480483_95480519del" "" "pathogenic" "" "0000094697" "1" "90" "9" "98205264" "98270831" "del" "0" "00125" "PTCH1_000292" "g.98205264_98270831del" "" "{PMID:Musani 2009:16596257}" "" "" "" "Unknown" "" "" "0" "" "" "g.95442982_95508549del" "" "pathogenic" "" "0000094698" "1" "90" "9" "98205264" "98270831" "del" "0" "00125" "PTCH1_000292" "g.98205264_98270831del" "" "{PMID:Fujii 2007:12655573}" "" "" "" "Unknown" "" "" "0" "" "" "g.95442982_95508549del" "" "pathogenic" "" "0000094699" "1" "90" "9" "98205264" "98270831" "del" "0" "00125" "PTCH1_000292" "g.98205264_98270831del" "" "{PMID:Nowakowska 2007:17632781}" "" "" "" "Unknown" "" "" "0" "" "" "g.95442982_95508549del" "" "pathogenic" "" "0000094700" "0" "90" "9" "98239880" "98239955" "del" "0" "00125" "PTCH1_000323" "g.98239880_98239955del" "" "{PMID:Wicking 1997:08981943}" "" "1370del76" "deletion inferred from other published mutations in this paper" "Unknown" "" "" "0" "" "" "g.95477598_95477673del" "" "pathogenic" "" "0000094701" "1" "90" "9" "98205264" "98244486" "del" "0" "00125" "PTCH1_000297" "g.98205264_98244486del" "" "{PMID:Soufir 2006:16909134}" "" "" "" "Unknown" "" "" "0" "" "" "g.95442982_95482204del" "" "pathogenic" "" "0000094702" "1" "90" "9" "98205264" "98270831" "del" "0" "00125" "PTCH1_000292" "g.98205264_98270831del" "" "{PMID:Endo 2009:19618880}" "" "" "" "Unknown" "" "" "0" "" "" "g.95442982_95508549del" "" "pathogenic" "" "0000094703" "1" "90" "9" "98221073" "98239886" "dup" "0" "00125" "PTCH1_000325" "g.98221073_98239886dup" "" "{PMID:Kosaki 2012:22711650}" "" "" "" "Unknown" "" "" "0" "" "" "g.95458791_95477604dup" "" "pathogenic" "" "0000094704" "1" "90" "9" "95907016" "98610835" "dup" "0" "00125" "PTCH1_000000" "g.(?_95907016)_(98610835_?)dup" "" "{PMID:Izumi 2011:21567912}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000094705" "0" "90" "9" "98239145" "98239146" "ins" "0" "00125" "PTCH1_000332" "g.98239145_98239146insAGGCAAAACCTGCGAATGGCA" "" "{PMID:Wicking 1997:08981943}" "" "1493-8ins21 and 1493–6ins21" "" "Unknown" "" "" "0" "" "" "g.95476863_95476864insAGGCAAAACCTGCGAATGGCA" "" "pathogenic" "" "0000094706" "1" "90" "9" "98239958" "98239982" "dup" "0" "00125" "PTCH1_000321" "g.98239958_98239982dup" "" "{PMID:Mazzuoccolo 2014:25188659}" "" "" "" "Unknown" "" "" "0" "" "" "g.95477676_95477700dup" "" "pathogenic" "" "0000094707" "1" "90" "9" "98018568" "98377958" "dup" "0" "00125" "PTCH1_000448" "g.98018568_98377958dup" "" "{PMID:Derwinska 2009:18830227}" "" "" "" "Unknown" "" "" "0" "" "" "g.95256286_95615676dup" "" "pathogenic" "" "0000094708" "1" "90" "9" "98241302" "98241359" "dup" "0" "00125" "PTCH1_000305" "g.98241302_98241359dup" "" "{PMID:Takahashi 2009:19557015}" "" "" "" "Unknown" "" "" "0" "" "" "g.95479020_95479077dup" "" "pathogenic" "" "0000094709" "1" "90" "9" "98224233" "4294967295" "" "0" "00125" "PTCH1_000000" "g.98224233_?delins?" "" "{PMID:Wicking 1997:08981943}" "" "2596complex (del and ins)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000094710" "1" "90" "9" "98221963" "98221984" "delins" "0" "00125" "PTCH1_000011" "g.98221963_98221984delinsAATTTCACA" "" "{PMID:Tanioka 2005:15565302}" "" "" "" "Unknown" "" "" "0" "" "" "g.95459681_95459702delinsAATTTCACA" "" "pathogenic" "" "0000094711" "1" "90" "9" "0" "0" "" "0" "00125" "PTCH1_000000" "g.?" "" "{PMID:Endo 2009:19618880}" "" "Inv (9)(q21.2q33.1) untraceable in publication" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000094712" "1" "50" "9" "98270667" "98270669" "dup" "0" "00125" "PTCH1_000291" "g.98270667_98270669dup" "" "{PMID:Tietze 2013:24131384}" "" "CGG 8x" "" "Unknown" "" "" "0" "" "" "g.95508385_95508387dup" "" "VUS" "" "0000094713" "1" "30" "9" "98222068" "98222068" "subst" "8.12638E-6" "00126" "PTCH1_000371" "g.98222068A>G" "" "{PMID:Abe 2008:19002359}" "" "IVS16-3T>C" "" "Unknown" "" "" "0" "" "" "g.95459786A>G" "" "likely benign" "" "0000129983" "0" "70" "9" "98221935" "98221935" "delins" "0" "01758" "PTCH1_000450" "g.98221935delinsGATGTTGTGGACCCG" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.95459653delinsGATGTTGTGGACCCG" "" "likely pathogenic" "" "0000132353" "0" "90" "9" "98229578" "98229578" "subst" "0" "01741" "PTCH1_000451" "g.98229578G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95467296G>A" "" "pathogenic" "" "0000139878" "0" "99" "9" "98268688" "98270831" "del" "0" "00125" "PTCH1_000516" "g.(98248157_98268688)_(98270831_?)del" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000139879" "0" "77" "9" "0" "0" "" "0" "00125" "PTCH1_000452" "g.(98224281_98229397)_(98248157_98268688)(2)" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000139880" "0" "99" "9" "98242273" "98242282" "del" "0" "00125" "PTCH1_000502" "g.98242273_98242282del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95479991_95480000del" "" "pathogenic" "" "0000139881" "1" "99" "9" "98241416" "98241416" "subst" "0" "00125" "PTCH1_000501" "g.98241416G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95479134G>A" "" "pathogenic" "" "0000139882" "0" "99" "9" "98241404" "98241404" "subst" "0" "00125" "PTCH1_000449" "g.98241404G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95479122G>A" "" "pathogenic" "" "0000139883" "0" "99" "9" "98241385" "98241385" "del" "0" "00125" "PTCH1_000500" "g.98241385del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "c.1114del variant found together with c.2183C>T (c.[1112delA;2183C>T]), resp. class 5 and 3" "Unknown" "" "" "0" "" "" "g.95479103del" "" "pathogenic" "" "0000139884" "0" "99" "9" "98241378" "98241378" "subst" "0" "00125" "PTCH1_000499" "g.98241378G>C" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95479096G>C" "" "pathogenic" "" "0000139885" "0" "99" "9" "98270536" "98270536" "del" "0" "00125" "PTCH1_000526" "g.98270536del" "" "{PMID:Reinders 2018:29575684} {PMID:Gielen 2018:29930296}" "" "" "" "De novo" "" "" "0" "" "" "g.95508254del" "" "pathogenic" "" "0000139886" "0" "99" "9" "98241299" "98241299" "subst" "0" "00125" "PTCH1_000498" "g.98241299G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95479017G>A" "" "pathogenic" "" "0000139887" "1" "77" "9" "98240470" "98240470" "subst" "0" "00125" "PTCH1_000497" "g.98240470T>C" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95478188T>C" "" "likely pathogenic" "" "0000139888" "0" "99" "9" "98240407" "98240407" "del" "0" "00125" "PTCH1_000496" "g.98240407del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95478125del" "" "pathogenic" "" "0000139889" "1" "77" "9" "98240336" "98240336" "subst" "0" "00125" "PTCH1_000495" "g.98240336C>T" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95478054C>T" "" "likely pathogenic" "" "0000139890" "0" "77" "9" "98239982" "98239984" "del" "0" "00125" "PTCH1_000493" "g.98239982_98239984del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95477700_95477702del" "" "likely pathogenic" "" "0000139891" "1" "77" "9" "98239985" "98239985" "subst" "0" "00125" "PTCH1_000494" "g.98239985C>G" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95477703C>G" "" "likely pathogenic" "" "0000139892" "0" "99" "9" "98239967" "98239967" "dup" "0" "00125" "PTCH1_000492" "g.98239967dup" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95477685dup" "" "pathogenic" "" "0000139893" "0" "99" "9" "98239953" "98239953" "subst" "0" "00125" "PTCH1_000491" "g.98239953C>T" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95477671C>T" "" "pathogenic" "" "0000139894" "1" "99" "9" "98239952" "98239952" "subst" "0" "00125" "PTCH1_000074" "g.98239952C>T" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95477670C>T" "" "pathogenic" "" "0000139895" "1" "77" "9" "98239908" "98239922" "del" "0" "00125" "PTCH1_000490" "g.98239908_98239922del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95477626_95477640del" "" "likely pathogenic" "" "0000139896" "1" "77" "9" "98239893" "98239893" "subst" "0" "00125" "PTCH1_000489" "g.98239893G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95477611G>A" "" "likely pathogenic" "" "0000139897" "0" "77" "9" "98239882" "98239882" "subst" "0" "00125" "PTCH1_000052" "g.98239882C>T" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95477600C>T" "" "likely pathogenic" "" "0000139898" "0" "77" "9" "98239140" "98239140" "subst" "0" "00125" "PTCH1_000487" "g.98239140C>G" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95476858C>G" "" "likely pathogenic" "" "0000139899" "0" "77" "9" "98239141" "98239141" "subst" "0" "00125" "PTCH1_000488" "g.98239141T>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95476859T>A" "" "likely pathogenic" "" "0000139900" "0" "99" "9" "98239138" "98239138" "dup" "0" "00125" "PTCH1_000486" "g.98239138dup" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95476856dup" "" "pathogenic" "" "0000139901" "1" "99" "9" "98239117" "98239117" "subst" "0" "00125" "PTCH1_000334" "g.98239117C>T" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95476835C>T" "" "pathogenic" "" "0000139902" "0" "77" "9" "98239088" "98239088" "subst" "0" "00125" "PTCH1_000485" "g.98239088C>G" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95476806C>G" "" "likely pathogenic" "" "0000139903" "0" "33" "9" "98242246" "98242246" "subst" "6.9031E-5" "00125" "PTCH1_000484" "g.98242246C>G" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "RNA studies revealed no splicing aberrations\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.95476150C>G" "" "likely benign" "" "0000139904" "0" "90" "9" "98238353" "98238353" "subst" "0" "00125" "PTCH1_000483" "g.98238353A>C" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95476071A>C" "" "pathogenic" "" "0000139905" "0" "77" "9" "98238332" "98238332" "subst" "0" "00125" "PTCH1_000482" "g.98238332C>G" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95476050C>G" "" "likely pathogenic" "" "0000139906" "1" "99" "9" "98232214" "98232214" "subst" "0" "00125" "PTCH1_000481" "g.98232214C>G" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95469932C>G" "" "pathogenic" "" "0000139907" "0" "77" "9" "98232175" "98232177" "del" "0" "00125" "PTCH1_000480" "g.98232175_98232177del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95469893_95469895del" "" "likely pathogenic" "" "0000139908" "0" "33" "9" "98232150" "98232150" "subst" "0" "00125" "PTCH1_000479" "g.98232150T>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95469868T>A" "" "likely benign" "" "0000139909" "0" "99" "9" "98232138" "98232138" "subst" "0" "00125" "PTCH1_000187" "g.98232138G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95469856G>A" "" "pathogenic" "" "0000139910" "0" "99" "9" "98232132" "98232132" "subst" "0" "00125" "PTCH1_000478" "g.98232132C>A" "" "{PMID:Reinders 2017:27658957}" "" "" "mosaicism in the patient" "Somatic" "" "" "0" "" "" "g.95469850C>A" "" "pathogenic" "" "0000139911" "0" "99" "9" "98231431" "98231431" "del" "0" "00125" "PTCH1_000477" "g.98231431del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95469149del" "" "pathogenic" "" "0000139912" "0" "99" "9" "98231363" "98231363" "dup" "0" "00125" "PTCH1_000345" "g.98231363dup" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95469081dup" "" "pathogenic" "" "0000139913" "0" "99" "9" "98231308" "98231308" "subst" "0" "00125" "PTCH1_000476" "g.98231308G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95469026G>A" "" "pathogenic" "" "0000139914" "0" "99" "9" "98231276" "98231276" "dup" "0" "00125" "PTCH1_000268" "g.98231276dup" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95468994dup" "" "pathogenic" "" "0000139915" "0" "77" "9" "98268883" "98268883" "subst" "0" "00125" "PTCH1_000525" "g.98268883T>C" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95506601T>C" "" "likely pathogenic" "" "0000139916" "0" "99" "9" "98268878" "98268878" "subst" "0" "00125" "PTCH1_000524" "g.98268878T>A" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95506596T>A" "" "pathogenic" "" "0000139917" "1" "99" "9" "98231185" "98231185" "subst" "0" "00125" "PTCH1_000475" "g.98231185G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95468903G>A" "" "pathogenic" "" "0000139918" "0" "99" "9" "98231113" "98231113" "subst" "0" "00125" "PTCH1_000474" "g.98231113C>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95468831C>A" "" "pathogenic" "" "0000139919" "0" "33" "9" "98231110" "98231110" "subst" "0.000901486" "00125" "PTCH1_000473" "g.98231110G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95468828G>A" "" "likely benign" "" "0000139920" "0" "99" "9" "98231104" "98231105" "ins" "0" "00125" "PTCH1_000472" "g.98231104_98231105insT" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95468822_95468823insT" "" "pathogenic" "" "0000139921" "0" "99" "9" "98231104" "98231104" "del" "0" "00125" "PTCH1_000471" "g.98231104del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95468822del" "" "pathogenic" "" "0000139922" "0" "77" "9" "98231032" "98231032" "subst" "0" "00125" "PTCH1_000469" "g.98231032C>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95468750C>A" "" "likely pathogenic" "" "0000139923" "0" "77" "9" "98231033" "98231033" "subst" "0" "00125" "PTCH1_000470" "g.98231033C>G" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "probably affects splicing" "Unknown" "" "" "0" "" "" "g.95468751C>G" "" "likely pathogenic" "" "0000139924" "0" "77" "9" "98229709" "98229709" "subst" "0" "00125" "PTCH1_000468" "g.98229709T>C" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95467427T>C" "" "likely pathogenic" "" "0000139925" "1" "99" "9" "98229650" "98229650" "subst" "0" "00125" "PTCH1_000467" "g.98229650G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95467368G>A" "" "pathogenic" "" "0000139926" "0" "99" "9" "98229599" "98229599" "subst" "0" "00125" "PTCH1_000466" "g.98229599C>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95467317C>A" "" "pathogenic" "" "0000139927" "0" "77" "9" "98229544" "98229544" "subst" "0" "00125" "PTCH1_000465" "g.98229544A>C" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95467262A>C" "" "likely pathogenic" "" "0000139928" "0" "99" "9" "98229512" "98229512" "subst" "0" "00125" "PTCH1_000363" "g.98229512G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95467230G>A" "" "pathogenic" "" "0000139929" "0" "77" "9" "98229511" "98229511" "subst" "0" "00125" "PTCH1_000464" "g.98229511T>C" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95467229T>C" "" "likely pathogenic" "" "0000139930" "1" "99" "9" "98268831" "98268832" "del" "0" "00125" "PTCH1_000523" "g.98268831_98268832del" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "yes" "" "0" "" "" "g.95506549_95506550del" "" "pathogenic" "" "0000139931" "0" "99" "9" "98229401" "98229401" "subst" "0" "00125" "PTCH1_000533" "g.98229401G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95467119G>A" "" "pathogenic" "" "0000139932" "1" "99" "9" "98218557" "98222066" "" "0" "00125" "PTCH1_000453" "g.(98215903_98218557)_(98222066_98224137)del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000139933" "0" "77" "9" "98224282" "98224282" "subst" "0" "00125" "PTCH1_000532" "g.98224282T>C" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95462000T>C" "" "likely pathogenic" "" "0000139934" "0" "99" "9" "98268826" "98268827" "del" "0" "00125" "PTCH1_000202" "g.98268826_98268827del" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95506544_95506545del" "" "pathogenic" "" "0000139935" "0" "99" "9" "98224229" "98224232" "del" "0" "00125" "PTCH1_000106" "g.98224229_98224232del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95461947_95461950del" "" "pathogenic" "" "0000139936" "0" "99" "9" "98224222" "98224222" "subst" "0" "00125" "PTCH1_000058" "g.98224222G>T" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95461940G>T" "" "pathogenic" "" "0000139937" "0" "99" "9" "98224222" "98224222" "subst" "0" "00125" "PTCH1_000531" "g.98224222G>C" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95461940G>C" "" "pathogenic" "" "0000139938" "0" "99" "9" "98268818" "98268822" "del" "0" "00125" "PTCH1_000522" "g.98268818_98268822del" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95506536_95506540del" "" "pathogenic" "" "0000139939" "0" "99" "9" "98222023" "98222023" "del" "0" "00125" "PTCH1_000529" "g.98222023del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95459741del" "" "pathogenic" "" "0000139940" "0" "99" "9" "98221979" "98221979" "del" "0" "00125" "PTCH1_000528" "g.98221979del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95459697del" "" "pathogenic" "" "0000139941" "0" "99" "9" "98268804" "98268804" "subst" "0" "00125" "PTCH1_000521" "g.98268804G>C" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95506522G>C" "" "pathogenic" "" "0000139942" "0" "99" "9" "98221926" "98221936" "del" "0" "00125" "PTCH1_000527" "g.98221926_98221936del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95459644_95459654del" "" "pathogenic" "" "0000139943" "0" "77" "9" "98220546" "98220546" "subst" "0" "00125" "PTCH1_000536" "g.98220546G>T" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95458264G>T" "" "likely pathogenic" "" "0000139944" "0" "99" "9" "98268789" "98268789" "subst" "0" "00125" "PTCH1_000520" "g.98268789G>T" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95506507G>T" "" "pathogenic" "" "0000139945" "1" "99" "9" "98220436" "98220436" "subst" "0" "00125" "PTCH1_000077" "g.98220436G>T" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95458154G>T" "" "pathogenic" "" "0000139946" "1" "99" "9" "98220436" "98220436" "subst" "0" "00125" "PTCH1_000535" "g.98220436G>C" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95458154G>C" "" "pathogenic" "" "0000139947" "0" "99" "9" "98220414" "98220414" "del" "0" "00125" "PTCH1_000534" "g.98220414del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95458132del" "" "pathogenic" "" "0000139948" "1" "99" "9" "98220404" "98220407" "del" "0" "00125" "PTCH1_000537" "g.98220404_98220407del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95458122_95458125del" "" "pathogenic" "" "0000139949" "0" "99" "9" "98220405" "98220405" "subst" "0" "00125" "PTCH1_000179" "g.98220405G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "de novo" "De novo" "" "" "0" "" "" "g.95458123G>A" "" "pathogenic" "" "0000139950" "1" "99" "9" "98220355" "98220356" "del" "0" "00125" "PTCH1_000541" "g.98220355_98220356del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95458073_95458074del" "" "pathogenic" "" "0000139951" "1" "99" "9" "98220328" "98220328" "del" "0" "00125" "PTCH1_000540" "g.98220328del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "c.3135delC mutation found together with c.4048C>T (c.[3135delC;4048C>T]), class resp. 5,3" "Germline" "" "" "0" "" "" "g.95458046del" "" "pathogenic" "" "0000139952" "0" "99" "9" "98220325" "98220328" "del" "0" "00125" "PTCH1_000538" "g.98220325_98220328del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95458043_95458046del" "" "pathogenic" "" "0000139953" "0" "99" "9" "98220325" "98220325" "del" "0" "00125" "PTCH1_000539" "g.98220325del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95458043del" "" "pathogenic" "" "0000139954" "0" "99" "9" "98220316" "98220316" "del" "0" "00125" "PTCH1_000547" "g.98220316del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95458034del" "" "pathogenic" "" "0000139955" "1" "33" "9" "98220308" "98220308" "subst" "0.000606056" "00125" "PTCH1_000388" "g.98220308G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95458026G>A" "" "likely benign" "" "0000139956" "0" "99" "9" "98218627" "98218633" "del" "0" "00125" "PTCH1_000546" "g.98218627_98218633del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95456345_95456351del" "" "pathogenic" "" "0000139957" "0" "99" "9" "98218595" "98218616" "del" "0" "00125" "PTCH1_000002" "g.98218595_98218616del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95456313_95456334del" "" "pathogenic" "" "0000139958" "0" "99" "9" "98215844" "98215845" "del" "0" "00125" "PTCH1_000148" "g.98215844_98215845del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95453562_95453563del" "" "pathogenic" "" "0000139959" "0" "99" "9" "98215836" "98215836" "del" "0" "00125" "PTCH1_000545" "g.98215836del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95453554del" "" "pathogenic" "" "0000139960" "20" "33" "9" "98212185" "98212185" "subst" "0.000531988" "00125" "PTCH1_000404" "g.98212185C>T" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "mother is asymptomatic" "Germline" "" "" "0" "" "" "g.95449903C>T" "" "likely benign" "" "0000139961" "0" "99" "9" "98212176" "98212176" "dup" "0" "00125" "PTCH1_000544" "g.98212176dup" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95449894dup" "" "pathogenic" "" "0000139962" "0" "99" "9" "98212147" "98212148" "del" "0" "00125" "PTCH1_000543" "g.98212147_98212148del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "3525_3526delGT" "" "Unknown" "" "" "0" "" "" "g.95449865_95449866del" "" "pathogenic" "" "0000139963" "0" "99" "9" "98268699" "98268700" "dup" "0" "00125" "PTCH1_000519" "g.98268699_98268700dup" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95506417_95506418dup" "" "pathogenic" "" "0000139964" "1" "77" "9" "98268688" "98268688" "subst" "0" "00125" "PTCH1_000517" "g.98268688C>T" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95506406C>T" "" "likely pathogenic" "" "0000139965" "1" "77" "9" "98268688" "98268688" "subst" "0" "00125" "PTCH1_000518" "g.98268688C>G" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95506406C>G" "" "likely pathogenic" "" "0000139966" "0" "77" "9" "0" "0" "" "0" "00125" "PTCH1_000454" "g.(98222066_98224137)_(98248157_98268688)(2)" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "de novo" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000139967" "1" "99" "9" "98248148" "98248148" "subst" "0" "00125" "PTCH1_000447" "g.98248148G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95485866G>A" "" "pathogenic" "" "0000139968" "1" "99" "9" "98248085" "98248085" "subst" "0" "00125" "PTCH1_000515" "g.98248085G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95485803G>A" "" "pathogenic" "" "0000139969" "0" "99" "9" "98248071" "98248074" "del" "0" "00125" "PTCH1_000413" "g.98248071_98248074del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95485789_95485792del" "" "pathogenic" "" "0000139970" "0" "77" "9" "98247961" "98247987" "del" "0" "00125" "PTCH1_000513" "g.98247961_98247987del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95485679_95485705del" "" "likely pathogenic" "" "0000139971" "0" "99" "9" "98247978" "98247981" "dup" "0" "00125" "PTCH1_000514" "g.98247978_98247981dup" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95485696_95485699dup" "" "pathogenic" "" "0000139972" "0" "99" "9" "98244479" "98244479" "subst" "0" "00125" "PTCH1_000512" "g.98244479C>G" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "De novo" "" "" "0" "" "" "g.95482197C>G" "" "pathogenic" "" "0000139973" "0" "77" "9" "98244323" "98244323" "subst" "0" "00125" "PTCH1_000511" "g.98244323C>T" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95482041C>T" "" "likely pathogenic" "" "0000139974" "0" "77" "9" "98244288" "98244288" "subst" "0" "00125" "PTCH1_000510" "g.98244288G>C" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95482006G>C" "" "likely pathogenic" "" "0000139975" "0" "99" "9" "98244270" "98244270" "subst" "0" "00125" "PTCH1_000509" "g.98244270C>T" "" "vaReinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95481988C>T" "" "pathogenic" "" "0000139976" "0" "99" "9" "98244253" "98244253" "del" "0" "00125" "PTCH1_000508" "g.98244253del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95481971del" "" "pathogenic" "" "0000139977" "0" "77" "9" "98242872" "98242872" "subst" "0" "00125" "PTCH1_000507" "g.98242872T>C" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95480590T>C" "" "likely pathogenic" "" "0000139978" "0" "99" "9" "98242846" "98242847" "delins" "0" "00125" "PTCH1_000506" "g.98242846_98242847delinsCCAAACC" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95480564_95480565delinsCCAAACC" "" "pathogenic" "" "0000139979" "0" "99" "9" "98242775" "98242775" "del" "0" "00125" "PTCH1_000505" "g.98242775del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95480493del" "" "pathogenic" "" "0000139980" "0" "77" "9" "98242727" "98242727" "subst" "0" "00125" "PTCH1_000504" "g.98242727A>G" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95480445A>G" "" "likely pathogenic" "" "0000139981" "1" "77" "9" "98242373" "98242373" "subst" "0" "00125" "PTCH1_000503" "g.98242373C>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95480091C>A" "" "likely pathogenic" "" "0000139982" "0" "99" "9" "98205264" "98270831" "del" "0" "00125" "PTCH1_000292" "g.(?_98205264)_(98270831_?)del" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "deletion entire PTCH gene" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000139983" "0" "99" "9" "98224137" "98229397" "del" "0" "00125" "PTCH1_000530" "g.(98218696_98224137)_(98229708_98229397)del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000139984" "0" "99" "9" "98205264" "98248157" "" "0" "00125" "PTCH1_000455" "g.(?_98205264)_(98248157_98268688)del" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000148344" "1" "90" "9" "98241404" "98241404" "subst" "0" "00125" "PTCH1_000449" "g.98241404G>A" "" "{PMID:Chidambaram 1996:8840969}" "" "C1081T (Q365X)" "" "Germline" "yes" "" "0" "" "" "g.95479122G>A" "" "pathogenic" "" "0000148350" "0" "90" "9" "98231276" "98231276" "dup" "0" "00125" "PTCH1_000268" "g.98231276dup" "" "{PMID:Chidambaram 1996:08840969}" "" "2000insC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.95468994dup" "" "pathogenic" "" "0000148351" "1" "90" "9" "98231228" "98231229" "dup" "0" "00125" "PTCH1_000269" "g.98231228_98231229dup" "" "{PMID:Chidambaram 1996:08840969}" "" "2047insCT" "" "Germline" "" "" "0" "" "" "g.95468946_95468947dup" "" "pathogenic" "" "0000148407" "1" "90" "9" "98241337" "98241337" "subst" "0" "00125" "PTCH1_000130" "g.98241337C>T" "" "{PMID:Wicking 1997:8981943}" "" "G1148A" "" "Germline" "" "" "0" "" "" "g.95479055C>T" "" "pathogenic" "" "0000148416" "1" "90" "9" "98268826" "98268827" "del" "0" "00125" "PTCH1_000202" "g.98268826_98268827del" "" "{PMID:Wicking 1997:8981943}" "" "244delCT" "" "Germline" "" "" "0" "" "" "g.95506544_95506545del" "" "pathogenic" "" "0000148421" "0" "90" "9" "98268826" "98268827" "del" "0" "00125" "PTCH1_000202" "g.98268826_98268827del" "" "{PMID:Wicking 1997:8981943},{PMID:Wicking 1997:9415689}" "" "244delCT" "Father has high arched palate, macrocephaly, and\r\ndense falcine calcification (age 53) but below the maximum biparietal diameter; mother clinically and radiologically negative." "De novo" "" "" "0" "" "" "g.95506544_95506545del" "" "pathogenic" "" "0000148425" "1" "90" "9" "98242765" "98242801" "del" "0" "00125" "PTCH1_000424" "g.98242765_98242801del" "" "{PMID:Wicking 1997:8981943}" "" "804del37" "" "Germline" "" "" "0" "" "" "g.95480483_95480519del" "" "pathogenic" "" "0000148534" "0" "90" "9" "98224247" "98224247" "del" "0" "00125" "PTCH1_000219" "g.98224247del" "" "{PMID:Wicking 1997:8981943},{PMID:Wicking 1997:9415689}" "" "2583delC" "Father has had 3 unconfirmed BCC (age 65) but radiologically negative; mother negative clinically but no radiological examinations." "De novo" "" "" "0" "" "" "g.95461965del" "" "pathogenic" "" "0000148535" "1" "90" "9" "98224233" "98224233" "" "0" "00125" "PTCH1_000456" "g.98224233delins?" "" "{PMID:Wicking 1997:8981943}" "" "2596complex" "inferred from others" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000148538" "0" "70" "9" "98279100" "98279100" "del" "0" "00125" "PTCH1_000457" "g.98279100del" "" "{PMID:Chassaing 2016:26893459}" "" "NM_001083603.1:c.4delG p.(Glu2Asnfs*9)" "" "Germline" "" "" "0" "" "" "g.95516818del" "" "likely pathogenic" "" "0000149240" "11" "90" "9" "98218673" "98218673" "subst" "0.000117975" "00125" "PTCH1_000458" "g.98218673G>A" "" "{PMID:Chassaing 2016:26893459}" "" "" "A-symptomatic father" "Germline" "" "" "0" "" "" "g.95456391G>A" "" "pathogenic" "" "0000149241" "21" "70" "9" "98218623" "98218623" "subst" "9.34503E-5" "00125" "PTCH1_000459" "g.98218623C>T" "" "{PMID:Chassaing 2016:26893459}" "" "" "A-symptomatic mother" "Germline" "" "" "0" "" "" "g.95456341C>T" "" "likely pathogenic" "" "0000149569" "11" "70" "9" "98209649" "98209649" "subst" "3.69449E-5" "00125" "PTCH1_000460" "g.98209649G>A" "" "{PMID:Chassaing 2016:26893459}" "" "" "A-symptomatic father" "Germline" "" "" "0" "" "" "g.95447367G>A" "" "likely pathogenic" "" "0000149570" "21" "70" "9" "98209591" "98209591" "subst" "0.000553971" "00125" "PTCH1_000461" "g.98209591T>C" "" "{PMID:Chassaing 2016:26893459}" "" "" "" "Germline" "" "" "0" "" "" "g.95447309T>C" "" "likely pathogenic" "" "0000149571" "0" "70" "9" "98229626" "98229626" "subst" "0" "00125" "PTCH1_000462" "g.98229626T>G" "" "{PMID:Chassaing 2016:26893459}" "" "" "" "Unknown" "" "" "0" "" "" "g.95467344T>G" "" "likely pathogenic" "" "0000149572" "11" "70" "9" "98224146" "98224146" "subst" "1.21845E-5" "00125" "PTCH1_000463" "g.98224146T>C" "" "{PMID:Chassaing 2016:26893459}" "" "" "A-symptomatic father" "Germline" "" "" "0" "" "" "g.95461864T>C" "" "likely pathogenic" "" "0000154419" "0" "90" "9" "98239985" "98239985" "subst" "0" "00125" "PTCH1_000494" "g.98239985C>G" "" "{PMID:Aszterbaum 1998:9620294}" "" "G>C Intron/exon border" "" "Unknown" "" "" "0" "" "" "g.95477703C>G" "" "pathogenic" "" "0000163019" "0" "99" "9" "98239117" "98239117" "subst" "0" "00125" "PTCH1_000334" "g.98239117C>T" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95476835C>T" "" "pathogenic" "" "0000163020" "0" "99" "9" "98239117" "98239117" "subst" "0" "00125" "PTCH1_000334" "g.98239117C>T" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95476835C>T" "" "pathogenic" "" "0000163021" "0" "99" "9" "98268826" "98268827" "del" "0" "00125" "PTCH1_000202" "g.98268826_98268827del" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95506544_95506545del" "" "pathogenic" "" "0000163022" "0" "99" "9" "98205264" "98270831" "" "0" "00125" "PTCH1_000292" "g.(?_98205264)_(98270831_?)del" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000163104" "0" "99" "9" "98205264" "98270831" "" "0" "00125" "PTCH1_000292" "g.(?_98205264)_(98270831_?)del" "" "Reinders et al, accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000163105" "1" "99" "9" "98248148" "98248148" "subst" "0" "00125" "PTCH1_000447" "g.98248148G>A" "" "vReinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Germline" "" "" "0" "" "" "g.95485866G>A" "" "pathogenic" "" "0000163106" "0" "99" "9" "98215844" "98215845" "del" "0" "00125" "PTCH1_000148" "g.98215844_98215845del" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95453562_95453563del" "" "pathogenic" "" "0000163107" "0" "99" "9" "98224222" "98224222" "subst" "0" "00125" "PTCH1_000058" "g.98224222G>T" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95461940G>T" "" "pathogenic" "" "0000163108" "0" "33" "9" "98220308" "98220308" "subst" "0.000606056" "00125" "PTCH1_000388" "g.98220308G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95458026G>A" "" "likely benign" "" "0000163109" "0" "33" "9" "98220308" "98220308" "subst" "0.000606056" "00125" "PTCH1_000388" "g.98220308G>A" "" "Reinders et al accepted in Molecular Genetics & Genomic Medicine" "" "" "" "Unknown" "" "" "0" "" "" "g.95458026G>A" "" "likely benign" "" "0000163586" "0" "50" "9" "98218589" "98218589" "subst" "0" "01741" "PTCH1_000549" "g.98218589A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.95456307A>T" "" "VUS" "" "0000164276" "0" "57" "9" "98218589" "98218589" "subst" "0" "01741" "PTCH1_000549" "g.98218589A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95456307A>T" "" "VUS" "" "0000221907" "21" "50" "9" "98270531" "98270531" "subst" "8.39045E-5" "02232" "PTCH1_000550" "g.98270531C>T" "" "" "" "g.13717G>A" "" "Germline" "" "" "0" "" "" "g.95508249C>T" "" "VUS" "" "0000249550" "0" "30" "9" "98232231" "98232231" "del" "0" "02325" "PTCH1_000595" "g.98232231del" "" "" "" "PTCH1(NM_001083602.3):c.1531-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95469949del" "" "likely benign" "" "0000249905" "0" "10" "9" "98220550" "98220550" "subst" "0.00202305" "02329" "PTCH1_000582" "g.98220550A>G" "" "" "" "PTCH1(NM_000264.5):c.2913T>C (p.Y971=), PTCH1(NM_001083602.1):c.2715T>C (p.Y905=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95458268A>G" "" "benign" "" "0000251027" "0" "10" "9" "98238379" "98238379" "subst" "0.0990489" "02326" "PTCH1_000597" "g.98238379A>G" "" "" "" "PTCH1(NM_000264.3):c.1665T>C (p.N555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95476097A>G" "" "benign" "" "0000253129" "0" "10" "9" "98220550" "98220550" "subst" "0.00202305" "01943" "PTCH1_000582" "g.98220550A>G" "" "" "" "PTCH1(NM_000264.5):c.2913T>C (p.Y971=), PTCH1(NM_001083602.1):c.2715T>C (p.Y905=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95458268A>G" "" "benign" "" "0000297460" "0" "30" "9" "98240474" "98240474" "subst" "0.000373583" "02325" "PTCH1_000602" "g.98240474G>T" "" "" "" "PTCH1(NM_000264.3):c.1216-6C>A (p.?), PTCH1(NM_001083602.3):c.1018-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95478192G>T" "" "likely benign" "" "0000297461" "0" "30" "9" "98239025" "98239027" "del" "0" "02325" "PTCH1_000600" "g.98239025_98239027del" "" "" "" "PTCH1(NM_000264.5):c.1602+15_1602+17delAAA, PTCH1(NM_001083602.3):c.1404+15_1404+17delAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95476743_95476745del" "" "likely benign" "" "0000297462" "0" "10" "9" "98238358" "98238358" "subst" "0.172484" "02325" "PTCH1_000596" "g.98238358G>A" "" "" "" "PTCH1(NM_001083602.3):c.1488C>T (p.A496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95476076G>A" "" "benign" "" "0000297463" "0" "30" "9" "98231279" "98231279" "subst" "0.000593105" "02325" "PTCH1_000593" "g.98231279G>A" "" "" "" "PTCH1(NM_001083602.3):c.1806C>T (p.Y602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95468997G>A" "" "likely benign" "" "0000297464" "0" "10" "9" "98229389" "98229389" "subst" "0.34644" "02325" "PTCH1_000588" "g.98229389C>G" "" "" "" "LOC100507346(NR_038982.1):n.368C>G, PTCH1(NM_001083602.3):c.2362+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95467107C>G" "" "benign" "" "0000297465" "0" "30" "9" "98220308" "98220308" "subst" "0.000606056" "02325" "PTCH1_000388" "g.98220308G>A" "" "" "" "PTCH1(NM_000264.3):c.3155C>T (p.(Thr1052Met), p.T1052M), PTCH1(NM_000264.5):c.3155C>T (p.T1052M), PTCH1(NM_001083602.3):c.2957C>T (p.T986M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95458026G>A" "" "likely benign" "" "0000297466" "0" "50" "9" "98211599" "98211599" "subst" "0" "02325" "PTCH1_000574" "g.98211599G>C" "" "" "" "PTCH1(NM_001083602.3):c.3358C>G (p.P1120A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95449317G>C" "" "VUS" "" "0000297467" "0" "70" "9" "98209735" "98209735" "subst" "0" "02325" "PTCH1_000567" "g.98209735T>C" "" "" "" "PTCH1(NM_001083602.3):c.3607-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447453T>C" "" "likely pathogenic" "" "0000297468" "0" "30" "9" "98209619" "98209619" "subst" "0.000243153" "02325" "PTCH1_000563" "g.98209619G>A" "" "" "" "PTCH1(NM_001083602.3):c.3721C>T (p.P1241S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447337G>A" "" "likely benign" "" "0000297469" "0" "10" "9" "98209594" "98209594" "subst" "0.38885" "02325" "PTCH1_000030" "g.98209594G>A" "" "" "" "PTCH1(NM_001083602.3):c.3746C>T (p.P1249L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447312G>A" "" "benign" "" "0000297470" "0" "30" "9" "98209584" "98209584" "subst" "0.000388838" "02325" "PTCH1_000562" "g.98209584C>T" "" "" "" "PTCH1(NM_000264.3):c.3954G>A (p.P1318=), PTCH1(NM_001083602.3):c.3756G>A (p.P1252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447302C>T" "" "likely benign" "" "0000297471" "0" "30" "9" "98209410" "98209410" "subst" "0.0014192" "02325" "PTCH1_000558" "g.98209410G>A" "" "" "" "PTCH1(NM_000264.5):c.4128C>T (p.S1376=), PTCH1(NM_001083602.1):c.3930C>T (p.S1310=), PTCH1(NM_001083602.3):c.3930C>T (p.S1310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447128G>A" "" "likely benign" "" "0000297472" "0" "50" "9" "98209357" "98209357" "subst" "1.22281E-5" "02325" "PTCH1_000556" "g.98209357C>T" "" "" "" "PTCH1(NM_001083602.3):c.3983G>A (p.R1328Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447075C>T" "" "VUS" "" "0000297473" "0" "30" "9" "98209353" "98209353" "subst" "6.91895E-5" "02325" "PTCH1_000555" "g.98209353C>T" "" "" "" "PTCH1(NM_001083602.3):c.3987G>A (p.G1329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447071C>T" "" "likely benign" "" "0000297474" "0" "90" "9" "98268838" "98268839" "del" "0" "02325" "PTCH1_000611" "g.98268838_98268839del" "" "" "" "PTCH1(NM_001083602.3):c.46_47delAA (p.K16Vfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95506556_95506557del" "" "pathogenic" "" "0000297475" "0" "30" "9" "98242720" "98242720" "subst" "4.87642E-5" "02325" "PTCH1_000606" "g.98242720C>T" "" "" "" "PTCH1(NM_001083602.3):c.699G>A (p.P233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95480438C>T" "" "likely benign" "" "0000297476" "0" "30" "9" "98242652" "98242652" "subst" "0.000374054" "02325" "PTCH1_000603" "g.98242652C>T" "" "" "" "PTCH1(NM_001083602.3):c.747+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95480370C>T" "" "likely benign" "" "0000299168" "0" "10" "9" "98270535" "98270535" "subst" "0.00140644" "02329" "PTCH1_000613" "g.98270535C>G" "" "" "" "PTCH1(NM_000264.3):c.109G>C (p.(Gly37Arg)), PTCH1(NM_000264.5):c.109G>C (p.G37R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95508253C>G" "" "benign" "" "0000299169" "0" "30" "9" "98240437" "98240437" "subst" "0.00018679" "02329" "PTCH1_000313" "g.98240437G>C" "" "" "" "PTCH1(NM_000264.5):c.1247C>G (p.T416S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95478155G>C" "" "likely benign" "" "0000299170" "0" "30" "9" "98240376" "98240376" "subst" "5.68528E-5" "02329" "PTCH1_000601" "g.98240376G>A" "" "" "" "PTCH1(NM_000264.5):c.1308C>T (p.D436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95478094G>A" "" "likely benign" "" "0000299171" "0" "30" "9" "98239025" "98239027" "del" "0" "02329" "PTCH1_000599" "g.98239025_98239027del" "" "" "" "PTCH1(NM_000264.5):c.1602+15_1602+17delAAA, PTCH1(NM_001083602.3):c.1404+15_1404+17delAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95476743_95476745del" "" "likely benign" "" "0000299172" "0" "10" "9" "98238403" "98238403" "subst" "0.00788548" "02329" "PTCH1_000598" "g.98238403G>A" "" "" "" "PTCH1(NM_000264.3):c.1641C>T (p.(Ser547=)), PTCH1(NM_000264.5):c.1641C>T (p.S547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95476121G>A" "" "benign" "" "0000299173" "0" "10" "9" "98231429" "98231429" "subst" "0.00214285" "02329" "PTCH1_000594" "g.98231429G>A" "" "" "" "PTCH1(NM_000264.5):c.1854C>T (p.C618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95469147G>A" "" "benign" "" "0000299174" "0" "30" "9" "98231157" "98231157" "subst" "0" "02329" "PTCH1_000592" "g.98231157C>T" "" "" "" "PTCH1(NM_000264.5):c.2126G>A (p.R709K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95468875C>T" "" "likely benign" "" "0000299175" "0" "30" "9" "98231110" "98231110" "subst" "0.000901486" "02329" "PTCH1_000473" "g.98231110G>A" "" "" "" "LOC100507346(NR_038982.1):n.766G>A (-), PTCH1(NM_000264.5):c.2173C>T (p.P725S), PTCH1(NM_001083602.1):c.1975C>T (p.P659S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95468828G>A" "" "likely benign" "" "0000299176" "0" "10" "9" "98231084" "98231084" "subst" "0.0145085" "02329" "PTCH1_000591" "g.98231084T>C" "" "" "" "LOC100507346(NR_038982.1):n.740T>C (-), PTCH1(NM_000264.5):c.2199A>G (p.S733=), PTCH1(NM_001354918.2):c.2043A>G (p.S681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95468802T>C" "" "benign" "" "0000299177" "0" "30" "9" "98231061" "98231061" "subst" "0.000690305" "02329" "PTCH1_000590" "g.98231061G>A" "" "" "" "PTCH1(NM_000264.5):c.2222C>T (p.A741V), PTCH1(NM_001083602.3):c.2024C>T (p.A675V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95468779G>A" "" "likely benign" "" "0000299178" "0" "50" "9" "98229473" "98229473" "subst" "0.00038579" "02329" "PTCH1_000589" "g.98229473C>T" "" "" "" "PTCH1(NM_000264.5):c.2485G>A (p.V829M), PTCH1(NM_001083602.1):c.2287G>A (p.V763M), PTCH1(NM_001083602.3):c.2287G>A (p.V763M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95467191C>T" "" "VUS" "" "0000299179" "0" "30" "9" "98221982" "98221982" "subst" "0.000592855" "02329" "PTCH1_000585" "g.98221982G>A" "" "" "" "PTCH1(NM_000264.3):c.2787C>T (p.N929=), PTCH1(NM_000264.5):c.2787C>T (p.N929=), PTCH1(NM_001083602.1):c.2589C>T (p.Asn863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95459700G>A" "" "likely benign" "" "0000299180" "0" "30" "9" "98221919" "98221919" "subst" "2.03029E-5" "02329" "PTCH1_000584" "g.98221919G>A" "" "" "" "PTCH1(NM_000264.5):c.2850C>T (p.H950=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95459637G>A" "" "likely benign" "" "0000299181" "0" "30" "9" "98220583" "98220583" "subst" "0.000161875" "02329" "PTCH1_000583" "g.98220583G>A" "" "" "" "PTCH1(NM_000264.5):c.2888-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95458301G>A" "" "likely benign" "" "0000299182" "0" "30" "9" "98220308" "98220308" "subst" "0.000606056" "02329" "PTCH1_000388" "g.98220308G>A" "" "" "" "PTCH1(NM_000264.3):c.3155C>T (p.(Thr1052Met), p.T1052M), PTCH1(NM_000264.5):c.3155C>T (p.T1052M), PTCH1(NM_001083602.3):c.2957C>T (p.T986M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95458026G>A" "" "likely benign" "" "0000299183" "0" "30" "9" "98220313" "98220313" "subst" "0.000268362" "02329" "PTCH1_000579" "g.98220313G>A" "" "" "" "PTCH1(NM_000264.5):c.3150C>T (p.P1050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95458031G>A" "" "likely benign" "" "0000299184" "0" "10" "9" "98268765" "98268765" "subst" "0.0142905" "02329" "PTCH1_000610" "g.98268765G>A" "" "" "" "PTCH1(NM_000264.3):c.318C>T (p.(Leu106=)), PTCH1(NM_000264.5):c.318C>T (p.L106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95506483G>A" "" "benign" "" "0000299185" "0" "30" "9" "98218573" "98218573" "subst" "6.91214E-5" "02329" "PTCH1_000577" "g.98218573G>A" "" "" "" "PTCH1(NM_000264.5):c.3291C>T (p.T1097=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95456291G>A" "" "likely benign" "" "0000299186" "0" "10" "9" "98215822" "98215822" "subst" "0.00171507" "02329" "PTCH1_000576" "g.98215822G>A" "" "" "" "PTCH1(NM_000264.3):c.3387C>T (p.(Gly1129=)), PTCH1(NM_000264.5):c.3387C>T (p.G1129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95453540G>A" "" "benign" "" "0000299187" "0" "30" "9" "98211591" "98211591" "subst" "0" "02329" "PTCH1_000573" "g.98211591G>A" "" "" "" "PTCH1(NM_000264.5):c.3564C>T (p.N1188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95449309G>A" "" "likely benign" "" "0000299188" "0" "10" "9" "98209410" "98209410" "subst" "0.0014192" "02329" "PTCH1_000558" "g.98209410G>A" "" "" "" "PTCH1(NM_000264.5):c.4128C>T (p.S1376=), PTCH1(NM_001083602.1):c.3930C>T (p.S1310=), PTCH1(NM_001083602.3):c.3930C>T (p.S1310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447128G>A" "" "benign" "" "0000299189" "0" "10" "9" "98209458" "98209458" "subst" "0.00397934" "02329" "PTCH1_000559" "g.98209458G>A" "" "" "" "PTCH1(NM_000264.3):c.4080C>T (p.(Ser1360=)), PTCH1(NM_000264.5):c.4080C>T (p.S1360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447176G>A" "" "benign" "" "0000299190" "0" "30" "9" "98209213" "98209213" "subst" "0.000435239" "02329" "PTCH1_000552" "g.98209213C>T" "" "" "" "PTCH1(NM_000264.3):c.4325G>A (p.(Arg1442Gln)), PTCH1(NM_000264.5):c.4325G>A (p.R1442Q), PTCH1(NM_001354918.2):c.4169G>A (p.R1390Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95446931C>T" "" "likely benign" "" "0000299191" "0" "10" "9" "98244242" "98244242" "subst" "0.0224337" "02329" "PTCH1_000607" "g.98244242T>C" "" "" "" "PTCH1(NM_000264.3):c.735A>G (p.(=)), PTCH1(NM_000264.5):c.735A>G (p.T245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95481960T>C" "" "benign" "" "0000301293" "0" "30" "9" "98224149" "98224149" "subst" "0.000199025" "02326" "PTCH1_000586" "g.98224149C>T" "" "" "" "PTCH1(NM_000264.3):c.2692G>A (p.D898N), PTCH1(NM_000264.5):c.2692G>A (p.(Asp898Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95461867C>T" "" "likely benign" "" "0000301294" "0" "30" "9" "98220308" "98220308" "subst" "0.000606056" "02326" "PTCH1_000388" "g.98220308G>A" "" "" "" "PTCH1(NM_000264.3):c.3155C>T (p.(Thr1052Met), p.T1052M), PTCH1(NM_000264.5):c.3155C>T (p.T1052M), PTCH1(NM_001083602.3):c.2957C>T (p.T986M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95458026G>A" "" "likely benign" "" "0000301295" "0" "10" "9" "98211572" "98211572" "subst" "0.0335774" "02326" "PTCH1_000061" "g.98211572T>A" "" "" "" "PTCH1(NM_000264.3):c.3583A>T (p.(Thr1195Ser), p.T1195S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95449290T>A" "" "benign" "" "0000301296" "0" "30" "9" "98209397" "98209397" "subst" "4.11485E-5" "02326" "PTCH1_000557" "g.98209397C>T" "" "" "" "PTCH1(NM_000264.3):c.4141G>A (p.V1381M), PTCH1(NM_001083602.1):c.3943G>A (p.V1315M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447115C>T" "" "likely benign" "" "0000306569" "0" "30" "9" "98240450" "98240450" "subst" "4.46682E-5" "01943" "PTCH1_000311" "g.98240450C>A" "" "" "" "PTCH1(NM_000264.5):c.1234G>T (p.A412S), PTCH1(NM_001083602.1):c.1036G>T (p.A346S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95478168C>A" "" "likely benign" "" "0000306570" "0" "30" "9" "98270531" "98270531" "subst" "0.000313538" "01943" "PTCH1_000612" "g.98270531C>A" "" "" "" "PTCH1(NM_000264.3):c.113G>T (p.G38V), PTCH1(NM_000264.5):c.113G>T (p.G38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95508249C>A" "" "likely benign" "" "0000306572" "0" "30" "9" "98231110" "98231110" "subst" "0.000901486" "01943" "PTCH1_000473" "g.98231110G>A" "" "" "" "LOC100507346(NR_038982.1):n.766G>A (-), PTCH1(NM_000264.5):c.2173C>T (p.P725S), PTCH1(NM_001083602.1):c.1975C>T (p.P659S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95468828G>A" "" "likely benign" "" "0000306573" "0" "10" "9" "98220526" "98220526" "subst" "0.0010317" "01943" "PTCH1_000581" "g.98220526G>A" "" "" "" "PTCH1(NM_001083602.1):c.2739C>T (p.N913=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95458244G>A" "" "benign" "" "0000306574" "0" "30" "9" "98221982" "98221982" "subst" "0.000592855" "01943" "PTCH1_000585" "g.98221982G>A" "" "" "" "PTCH1(NM_000264.3):c.2787C>T (p.N929=), PTCH1(NM_000264.5):c.2787C>T (p.N929=), PTCH1(NM_001083602.1):c.2589C>T (p.Asn863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95459700G>A" "" "likely benign" "" "0000306575" "0" "50" "9" "98220458" "98220458" "subst" "2.03084E-5" "01943" "PTCH1_000580" "g.98220458G>A" "" "" "" "PTCH1(NM_001083602.1):c.2807C>T (p.T936M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95458176G>A" "" "VUS" "" "0000306576" "0" "10" "9" "98209693" "98209693" "subst" "0.00223722" "01943" "PTCH1_000565" "g.98209693G>A" "" "" "" "PTCH1(NM_000264.3):c.3845C>T (p.(Pro1282Leu)), PTCH1(NM_001083602.1):c.3647C>T (p.P1216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447411G>A" "" "benign" "" "0000306577" "0" "30" "9" "98209513" "98209513" "subst" "9.53249E-5" "01943" "PTCH1_000561" "g.98209513C>T" "" "" "" "PTCH1(NM_001083602.1):c.3827G>A (p.R1276H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447231C>T" "" "likely benign" "" "0000306578" "0" "50" "9" "98209505" "98209505" "subst" "0.00010771" "01943" "PTCH1_000560" "g.98209505G>A" "" "" "" "PTCH1(NM_001083602.1):c.3835C>T (p.R1279C, p.Arg1279Cys)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447223G>A" "" "VUS" "" "0000332687" "0" "30" "9" "98209591" "98209591" "subst" "0.000553971" "01804" "PTCH1_000461" "g.98209591T>C" "" "" "" "PTCH1(NM_000264.3):c.3947A>G (p.(Tyr1316Cys)), PTCH1(NM_000264.5):c.3947A>G (p.Y1316C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447309T>C" "" "likely benign" "" "0000332688" "0" "30" "9" "98209631" "98209631" "subst" "0.0010034" "01804" "PTCH1_000564" "g.98209631G>A" "" "" "" "PTCH1(NM_000264.3):c.3907C>T (p.(Arg1303Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447349G>A" "" "likely benign" "" "0000332689" "0" "30" "9" "98209699" "98209699" "subst" "0.0002203" "01804" "PTCH1_000566" "g.98209699G>A" "" "" "" "PTCH1(NM_000264.3):c.3839C>T (p.(Ser1280Leu)), PTCH1(NM_000264.5):c.3839C>T (p.S1280L), PTCH1(NM_001083602.1):c.3641C>T (p.S1214L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447417G>A" "" "likely benign" "" "0000332690" "0" "50" "9" "98211521" "98211521" "subst" "0.000225331" "01804" "PTCH1_000568" "g.98211521C>T" "" "" "" "PTCH1(NM_000264.3):c.3634G>A (p.(Gly1212Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95449239C>T" "" "VUS" "" "0000332691" "0" "50" "9" "98211524" "98211524" "subst" "4.86108E-5" "01804" "PTCH1_000569" "g.98211524G>A" "" "" "" "PTCH1(NM_000264.3):c.3631C>T (p.(Pro1211Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95449242G>A" "" "VUS" "" "0000332693" "0" "50" "9" "98211538" "98211538" "subst" "0.000123745" "01804" "PTCH1_000570" "g.98211538C>T" "" "" "" "PTCH1(NM_000264.3):c.3617G>A (p.(Arg1206His)), PTCH1(NM_001083602.1):c.3419G>A (p.R1140H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95449256C>T" "" "VUS" "" "0000332694" "0" "50" "9" "98211580" "98211580" "subst" "0" "01804" "PTCH1_000571" "g.98211580C>A" "" "" "" "PTCH1(NM_000264.3):c.3575G>T (p.(Arg1192Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95449298C>A" "" "VUS" "" "0000332695" "0" "50" "9" "98211590" "98211590" "subst" "0" "01804" "PTCH1_000572" "g.98211590C>T" "" "" "" "PTCH1(NM_000264.3):c.3565G>A (p.(Gly1189Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95449308C>T" "" "VUS" "" "0000332700" "0" "50" "9" "98224163" "98224163" "subst" "0.000576687" "01804" "PTCH1_000587" "g.98224163C>T" "" "" "" "PTCH1(NM_000264.3):c.2678G>A (p.(Arg893His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95461881C>T" "" "VUS" "" "0000332704" "0" "50" "9" "98242710" "98242710" "subst" "0" "01804" "PTCH1_000605" "g.98242710C>G" "" "" "" "PTCH1(NM_000264.5):c.907G>C (p.(Asp303His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95480428C>G" "" "VUS" "" "0000332707" "0" "50" "9" "98270607" "98270607" "subst" "0.000783524" "01804" "PTCH1_000614" "g.98270607G>C" "" "" "" "PTCH1(NM_000264.3):c.37C>G (p.R13G, p.(Arg13Gly)), PTCH1(NM_000264.5):c.37C>G (p.R13G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95508325G>C" "" "VUS" "" "0000332708" "0" "30" "9" "98278972" "98278972" "subst" "0.00275496" "01804" "PTCH1_000664" "g.98278972T>C" "" "" "" "PTCH1(NM_001083602.1):c.-219A>G (p.(=)), PTCH1(NM_001083603.2):c.131A>G (p.E44G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95516690T>C" "" "likely benign" "" "0000341897" "0" "70" "9" "98209358" "98209358" "subst" "0" "02327" "PTCH1_000616" "g.98209358G>A" "" "" "" "PTCH1(NM_000264.3):c.4180C>T (p.(Arg1394*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95447076G>A" "" "likely pathogenic" "" "0000346951" "0" "70" "9" "98248027" "98248027" "subst" "0" "02327" "PTCH1_000620" "g.98248027A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95485745A>G" "" "likely pathogenic" "" "0000347637" "0" "90" "9" "98231047" "98231047" "subst" "0" "02327" "PTCH1_000618" "g.98231047T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95468765T>A" "" "pathogenic" "" "0000349185" "0" "30" "9" "98229479" "98229479" "subst" "0.000909615" "02327" "PTCH1_000183" "g.98229479T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95467197T>C" "" "likely benign" "" "0000350201" "0" "90" "9" "98229502" "98229502" "dup" "0" "02327" "PTCH1_000617" "g.98229502dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95467220dup" "" "pathogenic" "" "0000368470" "0" "77" "9" "98229398" "98229707" "del" "0" "01741" "PTCH1_000621" "g.(98224280_98229398)_(98229707_98231032)del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000538718" "0" "30" "9" "98209213" "98209213" "subst" "0.000435239" "01804" "PTCH1_000552" "g.98209213C>T" "" "" "" "PTCH1(NM_000264.3):c.4325G>A (p.(Arg1442Gln)), PTCH1(NM_000264.5):c.4325G>A (p.R1442Q), PTCH1(NM_001354918.2):c.4169G>A (p.R1390Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95446931C>T" "" "likely benign" "" "0000538719" "0" "30" "9" "98209214" "98209214" "subst" "0.00129352" "01943" "PTCH1_000553" "g.98209214G>A" "" "" "" "PTCH1(NM_000264.3):c.4324C>T (p.(Arg1442Trp)), PTCH1(NM_000264.5):c.4324C>T (p.R1442W), PTCH1(NM_001083602.1):c.4126C>T (p.R1376W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95446932G>A" "" "likely benign" "" "0000538720" "0" "30" "9" "98209214" "98209214" "subst" "0.00129352" "01804" "PTCH1_000553" "g.98209214G>A" "" "" "" "PTCH1(NM_000264.3):c.4324C>T (p.(Arg1442Trp)), PTCH1(NM_000264.5):c.4324C>T (p.R1442W), PTCH1(NM_001083602.1):c.4126C>T (p.R1376W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95446932G>A" "" "likely benign" "" "0000538721" "0" "30" "9" "98209214" "98209214" "subst" "0.00129352" "02329" "PTCH1_000553" "g.98209214G>A" "" "" "" "PTCH1(NM_000264.3):c.4324C>T (p.(Arg1442Trp)), PTCH1(NM_000264.5):c.4324C>T (p.R1442W), PTCH1(NM_001083602.1):c.4126C>T (p.R1376W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95446932G>A" "" "likely benign" "" "0000538722" "0" "50" "9" "98209264" "98209264" "subst" "4.06171E-5" "02327" "PTCH1_000622" "g.98209264G>A" "" "" "" "PTCH1(NM_000264.3):c.4274C>T (p.(Ser1425Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95446982G>A" "" "VUS" "" "0000538723" "0" "30" "9" "98209410" "98209410" "subst" "0.0014192" "01943" "PTCH1_000558" "g.98209410G>A" "" "" "" "PTCH1(NM_000264.5):c.4128C>T (p.S1376=), PTCH1(NM_001083602.1):c.3930C>T (p.S1310=), PTCH1(NM_001083602.3):c.3930C>T (p.S1310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95447128G>A" "" "likely benign" "" "0000538724" "0" "30" "9" "98209490" "98209490" "subst" "0.000865038" "01804" "PTCH1_000623" "g.98209490G>A" "" "" "" "PTCH1(NM_000264.3):c.4048C>T (p.(Arg1350Trp)), PTCH1(NM_000264.5):c.4048C>T (p.R1350W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95447208G>A" "" "likely benign" "" "0000538725" "0" "10" "9" "98209594" "98209594" "subst" "0.38885" "02327" "PTCH1_000030" "g.98209594G>A" "" "" "" "PTCH1(NM_001083602.3):c.3746C>T (p.P1249L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95447312G>A" "" "benign" "" "0000538727" "0" "30" "9" "98209693" "98209693" "subst" "0.00223722" "01804" "PTCH1_000565" "g.98209693G>A" "" "" "" "PTCH1(NM_000264.3):c.3845C>T (p.(Pro1282Leu)), PTCH1(NM_001083602.1):c.3647C>T (p.P1216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95447411G>A" "" "likely benign" "" "0000538728" "0" "10" "9" "98211319" "98211319" "subst" "0.00301455" "02327" "PTCH1_000625" "g.98211319A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95449037A>G" "" "benign" "" "0000538729" "0" "50" "9" "98211421" "98211421" "subst" "4.48394E-5" "02327" "PTCH1_000626" "g.98211421T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95449139T>C" "" "VUS" "" "0000538730" "0" "30" "9" "98211538" "98211538" "subst" "0.000123745" "01943" "PTCH1_000570" "g.98211538C>T" "" "" "" "PTCH1(NM_000264.3):c.3617G>A (p.(Arg1206His)), PTCH1(NM_001083602.1):c.3419G>A (p.R1140H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95449256C>T" "" "likely benign" "" "0000538731" "0" "10" "9" "98211549" "98211549" "subst" "0.00239264" "02329" "PTCH1_000627" "g.98211549G>A" "" "" "" "PTCH1(NM_000264.5):c.3606C>T (p.P1202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95449267G>A" "" "benign" "" "0000538732" "0" "10" "9" "98211572" "98211572" "subst" "0.0335774" "01804" "PTCH1_000061" "g.98211572T>A" "" "" "" "PTCH1(NM_000264.3):c.3583A>T (p.(Thr1195Ser), p.T1195S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95449290T>A" "" "benign" "" "0000538733" "0" "10" "9" "98211588" "98211588" "subst" "0.00141799" "01943" "PTCH1_000628" "g.98211588G>A" "" "" "" "PTCH1(NM_000264.5):c.3567C>T (p.G1189=), PTCH1(NM_001083602.1):c.3369C>T (p.G1123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95449306G>A" "" "benign" "" "0000538734" "0" "10" "9" "98211588" "98211588" "subst" "0.00141799" "02329" "PTCH1_000628" "g.98211588G>A" "" "" "" "PTCH1(NM_000264.5):c.3567C>T (p.G1189=), PTCH1(NM_001083602.1):c.3369C>T (p.G1123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95449306G>A" "" "benign" "" "0000538735" "0" "70" "9" "98212224" "98212224" "subst" "0" "02327" "PTCH1_000112" "g.98212224T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95449942T>C" "" "likely pathogenic" "" "0000538736" "0" "90" "9" "98215815" "98215815" "subst" "0" "02327" "PTCH1_000400" "g.98215815A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95453533A>G" "" "pathogenic" "" "0000538737" "0" "50" "9" "98218530" "98218531" "del" "0" "02327" "PTCH1_000629" "g.98218530_98218531del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95456248_95456249del" "" "VUS" "" "0000538738" "0" "30" "9" "98220308" "98220308" "subst" "0.000606056" "01804" "PTCH1_000388" "g.98220308G>A" "" "" "" "PTCH1(NM_000264.3):c.3155C>T (p.(Thr1052Met), p.T1052M), PTCH1(NM_000264.5):c.3155C>T (p.T1052M), PTCH1(NM_001083602.3):c.2957C>T (p.T986M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95458026G>A" "" "likely benign" "" "0000538739" "0" "70" "9" "98220355" "98220356" "del" "0" "02327" "PTCH1_000541" "g.98220355_98220356del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95458073_95458074del" "" "likely pathogenic" "" "0000538740" "0" "30" "9" "98220360" "98220360" "subst" "0" "01943" "PTCH1_000630" "g.98220360C>G" "" "" "" "PTCH1(NM_001083602.1):c.2905G>C (p.V969L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95458078C>G" "" "likely benign" "" "0000538741" "0" "90" "9" "98220414" "98220414" "del" "0" "02327" "PTCH1_000534" "g.98220414del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95458132del" "" "pathogenic" "" "0000538742" "0" "70" "9" "98220510" "98220511" "del" "0" "02327" "PTCH1_000631" "g.98220510_98220511del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95458228_95458229del" "" "likely pathogenic" "" "0000538743" "0" "30" "9" "98221872" "98221872" "subst" "0.000186838" "01943" "PTCH1_000632" "g.98221872C>T" "" "" "" "PTCH1(NM_001083602.1):c.2689+10G>A, PTCH1(NM_001083602.3):c.2689+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95459590C>T" "" "likely benign" "" "0000538744" "0" "30" "9" "98221872" "98221872" "subst" "0.000186838" "02325" "PTCH1_000632" "g.98221872C>T" "" "" "" "PTCH1(NM_001083602.1):c.2689+10G>A, PTCH1(NM_001083602.3):c.2689+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95459590C>T" "" "likely benign" "" "0000538745" "0" "70" "9" "98222046" "98222046" "del" "0" "02327" "PTCH1_000633" "g.98222046del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95459764del" "" "likely pathogenic" "" "0000538746" "0" "70" "9" "98224190" "98224197" "del" "0" "02327" "PTCH1_000634" "g.98224190_98224197del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95461908_95461915del" "" "likely pathogenic" "" "0000538747" "0" "30" "9" "98229390" "98229390" "subst" "0.000748186" "01943" "PTCH1_000635" "g.98229390C>T" "" "" "" "PTCH1(NM_000264.3):c.2560+8G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95467108C>T" "" "likely benign" "" "0000538748" "0" "30" "9" "98229390" "98229390" "subst" "0.000748186" "01804" "PTCH1_000635" "g.98229390C>T" "" "" "" "PTCH1(NM_000264.3):c.2560+8G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95467108C>T" "" "likely benign" "" "0000538749" "0" "50" "9" "98229473" "98229473" "subst" "0.00038579" "01943" "PTCH1_000589" "g.98229473C>T" "" "" "" "PTCH1(NM_000264.5):c.2485G>A (p.V829M), PTCH1(NM_001083602.1):c.2287G>A (p.V763M), PTCH1(NM_001083602.3):c.2287G>A (p.V763M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95467191C>T" "" "VUS" "" "0000538750" "0" "30" "9" "98229473" "98229473" "subst" "0.00038579" "02325" "PTCH1_000589" "g.98229473C>T" "" "" "" "PTCH1(NM_000264.5):c.2485G>A (p.V829M), PTCH1(NM_001083602.1):c.2287G>A (p.V763M), PTCH1(NM_001083602.3):c.2287G>A (p.V763M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95467191C>T" "" "likely benign" "" "0000538751" "0" "90" "9" "98229498" "98229498" "subst" "0" "02327" "PTCH1_000636" "g.98229498G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95467216G>C" "" "pathogenic" "" "0000538752" "0" "30" "9" "98229624" "98229624" "subst" "8.12183E-6" "02327" "PTCH1_000637" "g.98229624C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95467342C>T" "" "likely benign" "" "0000538753" "0" "70" "9" "98229650" "98229650" "subst" "0" "02327" "PTCH1_000467" "g.98229650G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95467368G>A" "" "likely pathogenic" "" "0000538754" "0" "30" "9" "98231061" "98231061" "subst" "0.000690305" "02325" "PTCH1_000590" "g.98231061G>A" "" "" "" "PTCH1(NM_000264.5):c.2222C>T (p.A741V), PTCH1(NM_001083602.3):c.2024C>T (p.A675V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95468779G>A" "" "likely benign" "" "0000538755" "0" "90" "9" "98231088" "98231089" "del" "0" "02327" "PTCH1_000245" "g.98231088_98231089del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95468806_95468807del" "" "pathogenic" "" "0000538756" "0" "30" "9" "98231106" "98231106" "subst" "0.000154307" "01943" "PTCH1_000638" "g.98231106G>C" "" "" "" "PTCH1(NM_000264.3):c.2177C>G (p.P726R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95468824G>C" "" "likely benign" "" "0000538757" "0" "50" "9" "98231110" "98231110" "subst" "0.000901486" "01804" "PTCH1_000473" "g.98231110G>A" "" "" "" "LOC100507346(NR_038982.1):n.766G>A (-), PTCH1(NM_000264.5):c.2173C>T (p.P725S), PTCH1(NM_001083602.1):c.1975C>T (p.P659S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95468828G>A" "" "VUS" "" "0000538758" "0" "30" "9" "98231113" "98231113" "subst" "1.21825E-5" "02329" "PTCH1_000639" "g.98231113C>T" "" "" "" "PTCH1(NM_000264.5):c.2170G>A (p.E724K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95468831C>T" "" "likely benign" "" "0000538759" "0" "30" "9" "98231135" "98231135" "subst" "4.46726E-5" "01943" "PTCH1_000640" "g.98231135G>A" "" "" "" "PTCH1(NM_001083602.1):c.1950C>T (p.S650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95468853G>A" "" "likely benign" "" "0000538760" "0" "30" "9" "98231210" "98231210" "subst" "2.43692E-5" "01943" "PTCH1_000641" "g.98231210G>A" "" "" "" "PTCH1(NM_001083602.1):c.1875C>T (p.T625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95468928G>A" "" "likely benign" "" "0000538762" "0" "30" "9" "98231239" "98231239" "subst" "7.31149E-5" "01804" "PTCH1_000643" "g.98231239G>A" "" "" "" "PTCH1(NM_000264.3):c.2044C>T (p.(Arg682Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95468957G>A" "" "likely benign" "" "0000538763" "0" "30" "9" "98231389" "98231389" "subst" "1.62596E-5" "01943" "PTCH1_000644" "g.98231389C>T" "" "" "" "PTCH1(NM_000264.5):c.1894G>A (p.(Asp632Asn), p.D632N), PTCH1(NM_001083602.1):c.1696G>A (p.D566N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95469107C>T" "" "likely benign" "" "0000538764" "0" "90" "9" "98232132" "98232132" "subst" "0" "02327" "PTCH1_000478" "g.98232132C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95469850C>A" "" "pathogenic" "" "0000538765" "0" "70" "9" "98232175" "98232177" "del" "0" "02327" "PTCH1_000480" "g.98232175_98232177del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95469893_95469895del" "" "likely pathogenic" "" "0000538766" "0" "50" "9" "98238341" "98238341" "subst" "0" "02327" "PTCH1_000645" "g.98238341G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95476059G>A" "" "VUS" "" "0000538767" "0" "10" "9" "98238379" "98238379" "subst" "0.0990489" "02327" "PTCH1_000597" "g.98238379A>G" "" "" "" "PTCH1(NM_000264.3):c.1665T>C (p.N555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95476097A>G" "" "benign" "" "0000538768" "0" "10" "9" "98239025" "98239027" "del" "0" "02327" "PTCH1_000600" "g.98239025_98239027del" "" "" "" "PTCH1(NM_000264.5):c.1602+15_1602+17delAAA, PTCH1(NM_001083602.3):c.1404+15_1404+17delAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95476743_95476745del" "" "benign" "" "0000538769" "0" "30" "9" "98239083" "98239083" "subst" "1.21914E-5" "01943" "PTCH1_000646" "g.98239083G>A" "" "" "" "PTCH1(NM_001083602.1):c.1362C>T (p.H454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95476801G>A" "" "likely benign" "" "0000538770" "0" "90" "9" "98239106" "98239106" "subst" "0" "02327" "PTCH1_000035" "g.98239106C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95476824C>A" "" "pathogenic" "" "0000538771" "0" "70" "9" "98239115" "98239120" "del" "0" "02327" "PTCH1_000647" "g.98239115_98239120del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95476833_95476838del" "" "likely pathogenic" "" "0000538772" "0" "90" "9" "98239117" "98239117" "subst" "0" "02327" "PTCH1_000334" "g.98239117C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95476835C>T" "" "pathogenic" "" "0000538773" "0" "30" "9" "98239147" "98239147" "subst" "0.0399248" "01804" "PTCH1_000648" "g.98239147A>G" "" "" "" "PTCH1(NM_000264.3):c.1504-8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95476865A>G" "" "likely benign" "" "0000538774" "0" "30" "9" "98239823" "98239823" "subst" "0" "01943" "PTCH1_000649" "g.98239823T>C" "" "" "" "PTCH1(NM_001083602.1):c.1305+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95477541T>C" "" "likely benign" "" "0000538775" "0" "90" "9" "98239882" "98239882" "subst" "0" "02327" "PTCH1_000052" "g.98239882C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95477600C>T" "" "pathogenic" "" "0000538776" "0" "50" "9" "98240360" "98240360" "subst" "1.21822E-5" "01804" "PTCH1_000650" "g.98240360C>T" "" "" "" "PTCH1(NM_000264.3):c.1324G>A (p.(Val442Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95478078C>T" "" "VUS" "" "0000538777" "0" "30" "9" "98240378" "98240378" "subst" "0.000726898" "01804" "PTCH1_000651" "g.98240378C>T" "" "" "" "PTCH1(NM_000264.3):c.1306G>A (p.(Asp436Asn)), PTCH1(NM_000264.5):c.1306G>A (p.D436N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95478096C>T" "" "likely benign" "" "0000538778" "0" "90" "9" "98240459" "98240459" "subst" "0" "02325" "PTCH1_000652" "g.98240459G>A" "" "" "" "PTCH1(NM_001083602.3):c.1027C>T (p.Q343*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95478177G>A" "" "pathogenic" "" "0000538780" "0" "30" "9" "98242652" "98242652" "subst" "0.000374054" "02327" "PTCH1_000603" "g.98242652C>T" "" "" "" "PTCH1(NM_001083602.3):c.747+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95480370C>T" "" "likely benign" "" "0000538781" "0" "70" "9" "98242872" "98242872" "subst" "0" "02327" "PTCH1_000507" "g.98242872T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95480590T>C" "" "likely pathogenic" "" "0000538782" "0" "10" "9" "98244242" "98244242" "subst" "0.0224337" "02327" "PTCH1_000607" "g.98244242T>C" "" "" "" "PTCH1(NM_000264.3):c.735A>G (p.(=)), PTCH1(NM_000264.5):c.735A>G (p.T245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95481960T>C" "" "benign" "" "0000538784" "0" "50" "9" "98248132" "98248132" "subst" "0" "01804" "PTCH1_000654" "g.98248132A>G" "" "" "" "PTCH1(NM_000264.3):c.419T>C (p.(Leu140Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95485850A>G" "" "VUS" "" "0000538785" "0" "90" "9" "98268826" "98268827" "del" "0" "02327" "PTCH1_000202" "g.98268826_98268827del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95506544_95506545del" "" "pathogenic" "" "0000538786" "0" "70" "9" "98268883" "98268883" "subst" "0" "02327" "PTCH1_000655" "g.98268883T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95506601T>G" "" "likely pathogenic" "" "0000538787" "0" "50" "9" "98270470" "98270470" "subst" "3.69859E-5" "02327" "PTCH1_000656" "g.98270470G>A" "" "" "" "PTCH1(NM_000264.3):c.174C>T (p.A58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508188G>A" "" "VUS" "" "0000538788" "0" "30" "9" "98270517" "98270517" "subst" "2.13276E-5" "02329" "PTCH1_000657" "g.98270517C>T" "" "" "" "PTCH1(NM_000264.5):c.127G>A (p.A43T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508235C>T" "" "likely benign" "" "0000538790" "0" "30" "9" "98270531" "98270531" "subst" "0.000313538" "02329" "PTCH1_000612" "g.98270531C>A" "" "" "" "PTCH1(NM_000264.3):c.113G>T (p.G38V), PTCH1(NM_000264.5):c.113G>T (p.G38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508249C>A" "" "likely benign" "" "0000538791" "0" "30" "9" "98270531" "98270531" "subst" "8.39045E-5" "01943" "PTCH1_000550" "g.98270531C>T" "" "" "" "PTCH1(NM_000264.3):c.113G>A (p.G38E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508249C>T" "" "likely benign" "" "0000538792" "0" "30" "9" "98270531" "98270531" "subst" "8.39045E-5" "02327" "PTCH1_000550" "g.98270531C>T" "" "" "" "PTCH1(NM_000264.3):c.113G>A (p.G38E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508249C>T" "" "likely benign" "" "0000538793" "0" "30" "9" "98270535" "98270535" "subst" "0.00140644" "01804" "PTCH1_000613" "g.98270535C>G" "" "" "" "PTCH1(NM_000264.3):c.109G>C (p.(Gly37Arg)), PTCH1(NM_000264.5):c.109G>C (p.G37R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508253C>G" "" "likely benign" "" "0000538794" "0" "90" "9" "98270536" "98270536" "del" "0" "02327" "PTCH1_000526" "g.98270536del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508254del" "" "pathogenic" "" "0000538795" "0" "30" "9" "98270607" "98270607" "subst" "0.000783524" "01943" "PTCH1_000614" "g.98270607G>C" "" "" "" "PTCH1(NM_000264.3):c.37C>G (p.R13G, p.(Arg13Gly)), PTCH1(NM_000264.5):c.37C>G (p.R13G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508325G>C" "" "likely benign" "" "0000538798" "0" "30" "9" "98270664" "98270669" "del" "0" "02327" "PTCH1_000660" "g.98270664_98270669del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508382_95508387del" "" "likely benign" "" "0000538799" "0" "30" "9" "98270667" "98270669" "dup" "0" "02325" "PTCH1_000291" "g.98270667_98270669dup" "" "" "" "PTCH1(NM_000264.5):c.-6_-4dupGGC, PTCH1(NM_001083602.1):c.4-1768_4-1766dupGGC, PTCH1(NR_149061.2):n.899_900insGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508385_95508387dup" "" "likely benign" "" "0000538800" "0" "30" "9" "98278940" "98278940" "subst" "0.00664769" "01804" "PTCH1_000661" "g.98278940C>G" "" "" "" "PTCH1(NM_001083602.1):c.-187G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95516658C>G" "" "likely benign" "" "0000538803" "0" "30" "9" "98278972" "98278972" "subst" "0.00275496" "01943" "PTCH1_000664" "g.98278972T>C" "" "" "" "PTCH1(NM_001083602.1):c.-219A>G (p.(=)), PTCH1(NM_001083603.2):c.131A>G (p.E44G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95516690T>C" "" "likely benign" "" "0000538804" "0" "10" "9" "98278972" "98278974" "dup" "0" "01943" "PTCH1_000665" "g.98278972_98278974dup" "" "" "" "PTCH1(NM_001083603.2):c.142_144dupGAA (p.E48dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95516690_95516692dup" "" "benign" "" "0000538805" "0" "30" "9" "98279018" "98279018" "subst" "0" "01943" "PTCH1_000666" "g.98279018C>G" "" "" "" "PTCH1(NM_001083603.2):c.85G>C (p.G29R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95516736C>G" "" "likely benign" "" "0000612201" "0" "30" "9" "98209458" "98209458" "subst" "0.00397934" "01804" "PTCH1_000559" "g.98209458G>A" "" "" "" "PTCH1(NM_000264.3):c.4080C>T (p.(Ser1360=)), PTCH1(NM_000264.5):c.4080C>T (p.S1360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95447176G>A" "" "likely benign" "" "0000612202" "0" "30" "9" "98218672" "98218672" "subst" "8.13491E-5" "01943" "PTCH1_000667" "g.98218672C>T" "" "" "" "PTCH1(NM_001083602.1):c.2994G>A (p.T998=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95456390C>T" "" "likely benign" "" "0000612203" "0" "50" "9" "98224244" "98224244" "subst" "4.06055E-6" "02327" "PTCH1_000668" "g.98224244C>T" "" "" "" "PTCH1(NM_001083602.3):c.2399G>A (p.G800E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95461962C>T" "" "VUS" "" "0000612204" "0" "50" "9" "98224244" "98224244" "subst" "4.06055E-6" "02325" "PTCH1_000668" "g.98224244C>T" "" "" "" "PTCH1(NM_001083602.3):c.2399G>A (p.G800E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95461962C>T" "" "VUS" "" "0000612207" "0" "70" "9" "98247978" "98247981" "dup" "0" "02327" "PTCH1_000514" "g.98247978_98247981dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95485696_95485699dup" "" "likely pathogenic" "" "0000612208" "0" "50" "9" "98268812" "98268812" "subst" "0" "01804" "PTCH1_000671" "g.98268812C>A" "" "" "" "PTCH1(NM_000264.3):c.271G>T (p.(Gly91Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95506530C>A" "" "VUS" "" "0000612209" "0" "30" "9" "98270463" "98270463" "subst" "6.97905E-5" "01804" "PTCH1_000672" "g.98270463C>T" "" "" "" "PTCH1(NM_000264.3):c.181G>A (p.(Ala61Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508181C>T" "" "likely benign" "" "0000612210" "0" "30" "9" "98270470" "98270470" "subst" "3.69859E-5" "01943" "PTCH1_000656" "g.98270470G>A" "" "" "" "PTCH1(NM_000264.3):c.174C>T (p.A58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508188G>A" "" "likely benign" "" "0000612211" "0" "30" "9" "98270664" "98270669" "dup" "0" "02327" "PTCH1_000673" "g.98270664_98270669dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508382_95508387dup" "" "likely benign" "" "0000612212" "0" "30" "9" "98270667" "98270669" "dup" "0" "02327" "PTCH1_000291" "g.98270667_98270669dup" "" "" "" "PTCH1(NM_000264.5):c.-6_-4dupGGC, PTCH1(NM_001083602.1):c.4-1768_4-1766dupGGC, PTCH1(NR_149061.2):n.899_900insGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95508385_95508387dup" "" "likely benign" "" "0000626566" "21" "50" "9" "98209598" "98209598" "subst" "0.000413155" "02061" "PTCH1_000674" "g.98209598G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95447316G>A" "" "VUS" "" "0000630876" "0" "90" "9" "98220368" "98220369" "del" "0" "01807" "PTCH1_000675" "g.98220368_98220369del" "" "" "" "3094_3095delAT" "" "Unknown" "" "" "0" "" "" "g.95458086_95458087del" "" "pathogenic" "" "0000631928" "0" "90" "9" "98229452" "98229452" "subst" "0" "01807" "PTCH1_000676" "g.98229452C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.95467170C>A" "" "pathogenic" "" "0000652757" "1" "30" "9" "98208444" "98208444" "subst" "0" "03575" "PTCH1_000677" "g.98208444A>G" "45/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "45 heterozygous, no homozygous; {DB:CLININrs28401363}" "Germline" "" "rs28401363" "0" "" "" "g.95446162A>G" "" "likely benign" "" "0000652758" "1" "50" "9" "98209298" "98209298" "subst" "0.000142167" "03575" "PTCH1_000678" "g.98209298C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs149667902}" "Germline" "" "rs149667902" "0" "" "" "g.95447016C>T" "" "VUS" "" "0000652760" "1" "30" "9" "98224163" "98224163" "subst" "0.000576687" "03575" "PTCH1_000587" "g.98224163C>T" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous; {DB:CLININrs138154222}" "Germline" "" "rs138154222" "0" "" "" "g.95461881C>T" "" "likely benign" "" "0000652761" "1" "50" "9" "98229473" "98229473" "subst" "0.00038579" "03575" "PTCH1_000589" "g.98229473C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs201125580}" "Germline" "" "rs201125580" "0" "" "" "g.95467191C>T" "" "VUS" "" "0000652762" "1" "10" "9" "98229479" "98229479" "subst" "0.000909615" "03575" "PTCH1_000183" "g.98229479T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199476092}" "Germline" "" "rs199476092" "0" "" "" "g.95467197T>C" "" "benign" "" "0000652763" "1" "10" "9" "98231008" "98231008" "subst" "0.0841454" "03575" "PTCH1_000679" "g.98231008A>G" "200/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "200 heterozygous; {DB:CLININrs16909898}" "Germline" "" "rs16909898" "0" "" "" "g.95468726A>G" "" "benign" "" "0000652764" "1" "30" "9" "98231100" "98231100" "subst" "0.001608" "03575" "PTCH1_000351" "g.98231100G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs115556836}" "Germline" "" "rs115556836" "0" "" "" "g.95468818G>A" "" "likely benign" "" "0000652765" "1" "90" "9" "98244311" "98244311" "subst" "0" "03575" "PTCH1_000680" "g.98244311A>T" "1/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863224487}" "Germline" "" "rs863224487" "0" "" "" "g.95482029A>T" "" "pathogenic" "" "0000652766" "1" "90" "9" "98268740" "98268740" "subst" "0" "03575" "PTCH1_000681" "g.98268740C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794727242}" "Germline" "" "rs794727242" "0" "" "" "g.95506458C>A" "" "pathogenic" "" "0000652767" "1" "30" "9" "98268765" "98268765" "subst" "0.0142905" "03575" "PTCH1_000610" "g.98268765G>A" "14/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs1805153}" "Germline" "" "rs1805153" "0" "" "" "g.95506483G>A" "" "likely benign" "" "0000656391" "0" "50" "9" "98209397" "98209397" "subst" "4.11485E-5" "01943" "PTCH1_000557" "g.98209397C>T" "" "" "" "PTCH1(NM_000264.3):c.4141G>A (p.V1381M), PTCH1(NM_001083602.1):c.3943G>A (p.V1315M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95447115C>T" "" "VUS" "" "0000656392" "0" "50" "9" "98215814" "98215814" "subst" "0" "02325" "PTCH1_000682" "g.98215814G>A" "" "" "" "PTCH1(NM_001083602.3):c.3197C>T (p.S1066F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95453532G>A" "" "VUS" "" "0000656393" "0" "70" "9" "98221957" "98221957" "subst" "0" "01943" "PTCH1_000683" "g.98221957G>A" "" "" "" "PTCH1(NM_001083602.1):c.2614C>T (p.Q872*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95459675G>A" "" "likely pathogenic" "" "0000656394" "0" "30" "9" "98224207" "98224207" "subst" "5.27872E-5" "01943" "PTCH1_000684" "g.98224207G>A" "" "" "" "PTCH1(NM_001083602.1):c.2436C>T (p.D812=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95461925G>A" "" "likely benign" "" "0000656395" "0" "50" "9" "98224278" "98224278" "subst" "0" "02327" "PTCH1_000685" "g.98224278G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95461996G>A" "" "VUS" "" "0000656396" "0" "30" "9" "98244242" "98244242" "subst" "0.0224337" "01804" "PTCH1_000607" "g.98244242T>C" "" "" "" "PTCH1(NM_000264.3):c.735A>G (p.(=)), PTCH1(NM_000264.5):c.735A>G (p.T245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95481960T>C" "" "likely benign" "" "0000656397" "0" "30" "9" "98248029" "98248029" "subst" "0" "01943" "PTCH1_000686" "g.98248029C>T" "" "" "" "PTCH1(NM_001083602.1):c.324G>A (p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95485747C>T" "" "likely benign" "" "0000663282" "0" "33" "9" "98209217" "98209217" "subst" "1.62658E-5" "01164" "PTCH1_000687" "g.98209217G>A" "" "" "" "" "ACMG grading: BP2,BP4" "Germline" "" "rs746800536" "0" "" "" "g.95446935G>A" "" "likely benign" "ACMG" "0000663283" "0" "77" "9" "98240335" "98240335" "subst" "0" "01164" "PTCH1_000688" "g.98240335A>G" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.95478053A>G" "" "likely pathogenic" "ACMG" "0000670075" "3" "30" "9" "98224163" "98224163" "subst" "0.000576687" "03575" "PTCH1_000587" "g.98224163C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs138154222}" "Germline" "" "rs138154222" "0" "" "" "g.95461881C>T" "" "likely benign" "" "0000670076" "3" "10" "9" "98231008" "98231008" "subst" "0.0841454" "03575" "PTCH1_000679" "g.98231008A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs16909898}" "Germline" "" "rs16909898" "0" "" "" "g.95468726A>G" "" "benign" "" "0000675068" "0" "70" "9" "98268700" "98268700" "subst" "0" "03744" "PTCH1_000693" "g.98268700A>G" "" "" "" "383C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000675069" "0" "70" "9" "98218697" "98218697" "subst" "0" "03744" "PTCH1_000690" "g.98218697T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000675070" "0" "50" "9" "98209213" "98209213" "subst" "0.000435239" "03744" "PTCH1_000552" "g.98209213C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000675072" "0" "70" "9" "98241329" "98241329" "subst" "0" "03744" "PTCH1_000692" "g.98241329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000675073" "0" "70" "9" "98241327" "98241327" "del" "0" "03744" "PTCH1_000691" "g.98241327del" "" "" "" "1170delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000678738" "0" "30" "9" "98209584" "98209584" "subst" "0.000388838" "01943" "PTCH1_000562" "g.98209584C>T" "" "" "" "PTCH1(NM_000264.3):c.3954G>A (p.P1318=), PTCH1(NM_001083602.3):c.3756G>A (p.P1252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678739" "0" "50" "9" "98231290" "98231290" "subst" "0" "02327" "PTCH1_000694" "g.98231290G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678740" "0" "30" "9" "98240451" "98240451" "subst" "1.2182E-5" "01943" "PTCH1_000695" "g.98240451G>A" "" "" "" "PTCH1(NM_001083602.1):c.1035C>T (p.V345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678741" "0" "50" "9" "98270496" "98270497" "del" "0" "02327" "PTCH1_000696" "g.98270496_98270497del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684773" "0" "10" "9" "98229479" "98229479" "" "0.000909615" "00004" "PTCH1_000183" "g.98229479T>C" "frequency 0.022" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.95467197T>C" "" "benign" "" "0000690612" "0" "30" "9" "98209490" "98209490" "subst" "0.000865038" "02325" "PTCH1_000623" "g.98209490G>A" "" "" "" "PTCH1(NM_000264.3):c.4048C>T (p.(Arg1350Trp)), PTCH1(NM_000264.5):c.4048C>T (p.R1350W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690613" "0" "30" "9" "98209699" "98209699" "subst" "0.0002203" "02329" "PTCH1_000566" "g.98209699G>A" "" "" "" "PTCH1(NM_000264.3):c.3839C>T (p.(Ser1280Leu)), PTCH1(NM_000264.5):c.3839C>T (p.S1280L), PTCH1(NM_001083602.1):c.3641C>T (p.S1214L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690614" "0" "90" "9" "98224275" "98224275" "subst" "0" "02325" "PTCH1_000697" "g.98224275G>A" "" "" "" "PTCH1(NM_000264.5):c.2566C>T (p.Q856*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690615" "0" "90" "9" "98229447" "98229450" "del" "0" "02325" "PTCH1_000698" "g.98229447_98229450del" "" "" "" "PTCH1(NM_000264.5):c.2513_2516delAACA (p.K838Sfs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690616" "0" "90" "9" "98229569" "98229572" "del" "0" "02325" "PTCH1_000699" "g.98229569_98229572del" "" "" "" "PTCH1(NM_000264.5):c.2387_2390delAATA (p.K796Tfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690617" "0" "50" "9" "98240474" "98240474" "subst" "0.000373583" "02327" "PTCH1_000602" "g.98240474G>T" "" "" "" "PTCH1(NM_000264.3):c.1216-6C>A (p.?), PTCH1(NM_001083602.3):c.1018-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690618" "0" "50" "9" "98241403" "98241403" "subst" "0" "02325" "PTCH1_000700" "g.98241403T>C" "" "" "" "PTCH1(NM_000264.5):c.1094A>G (p.Q365R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690619" "0" "50" "9" "98242667" "98242667" "subst" "0" "02325" "PTCH1_000701" "g.98242667C>T" "" "" "" "PTCH1(NM_000264.5):c.945+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690620" "0" "50" "9" "98268766" "98268768" "del" "0" "01943" "PTCH1_000702" "g.98268766_98268768del" "" "" "" "PTCH1(NM_001083602.1):c.121_123delCTC (p.L41del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722605" "0" "90" "9" "98209355" "98209355" "del" "0" "02325" "PTCH1_000703" "g.98209355del" "" "" "" "PTCH1(NM_000264.5):c.4187delG (p.G1396Dfs*56)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722606" "0" "50" "9" "98209648" "98209648" "subst" "5.74991E-5" "02329" "PTCH1_000624" "g.98209648C>T" "" "" "" "PTCH1(NM_001083602.1):c.3692G>A (p.R1231Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722607" "0" "90" "9" "98220383" "98220383" "del" "0" "02325" "PTCH1_000704" "g.98220383del" "" "" "" "PTCH1(NM_000264.5):c.3081delG (p.W1027Cfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722608" "0" "70" "9" "98231322" "98231322" "subst" "4.06279E-6" "02325" "PTCH1_000705" "g.98231322G>A" "" "" "" "PTCH1(NM_000264.5):c.1961C>T (p.T654M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722609" "0" "90" "9" "98231429" "98231429" "subst" "0" "02327" "PTCH1_000706" "g.98231429G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722610" "0" "90" "9" "98241404" "98241404" "subst" "0" "02325" "PTCH1_000449" "g.98241404G>A" "" "" "" "PTCH1(NM_000264.5):c.1093C>T (p.Q365*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722611" "0" "90" "9" "98244467" "98244467" "del" "0" "02325" "PTCH1_000707" "g.98244467del" "" "" "" "PTCH1(NM_000264.5):c.605delT (p.L202Cfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722612" "0" "90" "9" "98268818" "98268822" "del" "0" "02325" "PTCH1_000522" "g.98268818_98268822del" "" "" "" "PTCH1(NM_000264.5):c.262_266delTTTAA (p.F88Tfs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722613" "0" "90" "9" "98270522" "98270522" "del" "0" "02327" "PTCH1_000708" "g.98270522del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804229" "0" "30" "9" "98209505" "98209505" "subst" "0.00010771" "02369" "PTCH1_000560" "g.98209505G>A" "" "" "" "PTCH1(NM_001083602.1):c.3835C>T (p.R1279C, p.Arg1279Cys)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804230" "0" "30" "9" "98209699" "98209699" "subst" "0.0002203" "01943" "PTCH1_000566" "g.98209699G>A" "" "" "" "PTCH1(NM_000264.3):c.3839C>T (p.(Ser1280Leu)), PTCH1(NM_000264.5):c.3839C>T (p.S1280L), PTCH1(NM_001083602.1):c.3641C>T (p.S1214L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804231" "0" "30" "9" "98240450" "98240450" "subst" "4.46682E-5" "02325" "PTCH1_000311" "g.98240450C>A" "" "" "" "PTCH1(NM_000264.5):c.1234G>T (p.A412S), PTCH1(NM_001083602.1):c.1036G>T (p.A346S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804232" "0" "50" "9" "98248051" "98248051" "subst" "8.12137E-6" "01943" "PTCH1_000709" "g.98248051G>T" "" "" "" "PTCH1(NM_001083602.1):c.302C>A (p.A101D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804233" "0" "30" "9" "98270667" "98270669" "dup" "0" "02369" "PTCH1_000291" "g.98270667_98270669dup" "" "" "" "PTCH1(NM_000264.5):c.-6_-4dupGGC, PTCH1(NM_001083602.1):c.4-1768_4-1766dupGGC, PTCH1(NR_149061.2):n.899_900insGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000844854" "3" "30" "9" "98209594" "98209594" "subst" "0.38885" "00006" "PTCH1_000030" "g.98209594G>A" "" "{PMID:Drissi 2022:33820834}" "" "Pro1315Leu" "" "Germline" "" "rs357564" "0" "" "" "g.95447312G>A" "" "likely benign" "" "0000844861" "1" "30" "9" "98209594" "98209594" "subst" "0.38885" "00006" "PTCH1_000030" "g.98209594G>A" "" "{PMID:Drissi 2022:33820834}" "" "Pro1315Leu" "" "Germline" "" "rs357564" "0" "" "" "g.95447312G>A" "" "likely benign" "" "0000845108" "0" "50" "9" "98240437" "98240437" "subst" "0.00018679" "00006" "PTCH1_000313" "g.98240437G>C" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.95478155G>C" "" "VUS" "" "0000845109" "0" "50" "9" "98229479" "98229479" "subst" "0.000909615" "00006" "PTCH1_000183" "g.98229479T>C" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.95467197T>C" "" "VUS" "" "0000852341" "0" "30" "9" "98209490" "98209490" "subst" "0.000865038" "02329" "PTCH1_000623" "g.98209490G>A" "" "" "" "PTCH1(NM_000264.3):c.4048C>T (p.(Arg1350Trp)), PTCH1(NM_000264.5):c.4048C>T (p.R1350W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852342" "0" "30" "9" "98221982" "98221982" "subst" "0.000592855" "02369" "PTCH1_000585" "g.98221982G>A" "" "" "" "PTCH1(NM_000264.3):c.2787C>T (p.N929=), PTCH1(NM_000264.5):c.2787C>T (p.N929=), PTCH1(NM_001083602.1):c.2589C>T (p.Asn863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852343" "0" "50" "9" "98231130" "98231130" "subst" "0" "02325" "PTCH1_000711" "g.98231130G>C" "" "" "" "PTCH1(NM_000264.5):c.2153C>G (p.S718C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852344" "0" "90" "9" "98244230" "98244230" "subst" "0" "02327" "PTCH1_000713" "g.98244230C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861766" "0" "10" "9" "98209213" "98209213" "subst" "0.000435239" "02326" "PTCH1_000552" "g.98209213C>T" "" "" "" "PTCH1(NM_000264.3):c.4325G>A (p.(Arg1442Gln)), PTCH1(NM_000264.5):c.4325G>A (p.R1442Q), PTCH1(NM_001354918.2):c.4169G>A (p.R1390Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861767" "0" "10" "9" "98215822" "98215822" "subst" "0.00171507" "01804" "PTCH1_000576" "g.98215822G>A" "" "" "" "PTCH1(NM_000264.3):c.3387C>T (p.(Gly1129=)), PTCH1(NM_000264.5):c.3387C>T (p.G1129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861768" "0" "50" "9" "98218567" "98218581" "del" "0" "01804" "PTCH1_000710" "g.98218567_98218581del" "" "" "" "PTCH1(NM_000264.3):c.3284_3298del (p.(Glu1095_His1099del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861769" "0" "90" "9" "98229626" "98229626" "dup" "0" "02327" "PTCH1_000084" "g.98229626dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861770" "0" "30" "9" "98231084" "98231084" "subst" "0.0145085" "01804" "PTCH1_000591" "g.98231084T>C" "" "" "" "LOC100507346(NR_038982.1):n.740T>C (-), PTCH1(NM_000264.5):c.2199A>G (p.S733=), PTCH1(NM_001354918.2):c.2043A>G (p.S681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861771" "0" "30" "9" "98231084" "98231084" "subst" "0.0145085" "02326" "PTCH1_000591" "g.98231084T>C" "" "" "" "LOC100507346(NR_038982.1):n.740T>C (-), PTCH1(NM_000264.5):c.2199A>G (p.S733=), PTCH1(NM_001354918.2):c.2043A>G (p.S681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861772" "0" "30" "9" "98231267" "98231267" "subst" "2.03094E-5" "02325" "PTCH1_000712" "g.98231267C>T" "" "" "" "PTCH1(NM_000264.5):c.2016G>A (p.T672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861773" "0" "10" "9" "98238403" "98238403" "subst" "0.00788548" "01804" "PTCH1_000598" "g.98238403G>A" "" "" "" "PTCH1(NM_000264.3):c.1641C>T (p.(Ser547=)), PTCH1(NM_000264.5):c.1641C>T (p.S547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000876945" "21" "90" "9" "98239961" "98239961" "del" "0" "00006" "PTCH1_000714" "g.98239961del" "" "{PMID:Igaz 2022:34916233}" "" "1371delG" "" "Germline" "yes" "" "0" "" "" "g.95477679del" "" "pathogenic (dominant)" "" "0000876946" "0" "90" "9" "98221972" "98221976" "del" "0" "00006" "PTCH1_000715" "g.98221972_98221976del" "" "{PMID:Igaz 2022:34916233}" "" "2796_2800delCGCGT" "variant 0.20 in 0.50 tumour tissue" "Somatic" "" "" "0" "" "" "g.95459690_95459694del" "" "pathogenic" "" "0000881306" "0" "90" "9" "98241301" "98241301" "del" "0" "02300" "PTCH1_000716" "g.98241301del" "" "{PMID:Marinakis 2021:34008892}" "" "c.1196delG" "ACMG PVS1, PM2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.95479019del" "" "pathogenic (dominant)" "ACMG" "0000888938" "0" "50" "9" "98209541" "98209541" "subst" "0" "02325" "PTCH1_000717" "g.98209541G>C" "" "" "" "PTCH1(NM_000264.5):c.3997C>G (p.P1333A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888939" "0" "30" "9" "98209585" "98209585" "subst" "0.000198523" "02325" "PTCH1_000718" "g.98209585G>A" "" "" "" "PTCH1(NM_000264.3):c.3953C>T (p.(Pro1318Leu)), PTCH1(NM_000264.5):c.3953C>T (p.P1318L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888940" "0" "30" "9" "98211525" "98211525" "subst" "0" "02329" "PTCH1_000719" "g.98211525C>T" "" "" "" "PTCH1(NM_000264.5):c.3630G>A (p.P1210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888941" "0" "50" "9" "98215833" "98215833" "subst" "0.000312965" "02325" "PTCH1_000720" "g.98215833C>T" "" "" "" "PTCH1(NM_000264.5):c.3376G>A (p.V1126I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888942" "0" "90" "9" "98232118" "98232119" "del" "0" "02327" "PTCH1_000721" "g.98232118_98232119del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888943" "0" "30" "9" "98240378" "98240378" "subst" "0.000726898" "02325" "PTCH1_000651" "g.98240378C>T" "" "" "" "PTCH1(NM_000264.3):c.1306G>A (p.(Asp436Asn)), PTCH1(NM_000264.5):c.1306G>A (p.D436N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888944" "0" "50" "9" "98270661" "98270669" "del" "0" "02325" "PTCH1_000722" "g.98270661_98270669del" "" "" "" "PTCH1(NM_000264.5):c.-12_-4delGGCGGCGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888945" "0" "30" "9" "98270667" "98270669" "dup" "0" "02326" "PTCH1_000291" "g.98270667_98270669dup" "" "" "" "PTCH1(NM_000264.5):c.-6_-4dupGGC, PTCH1(NM_001083602.1):c.4-1768_4-1766dupGGC, PTCH1(NR_149061.2):n.899_900insGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920416" "0" "50" "9" "98268872" "98268872" "subst" "0" "03779" "PTCH1_000726" "g.98268872T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000922631" "21" "70" "9" "98231287" "98231293" "del" "0" "00006" "PTCH1_000723" "g.98231287_98231293del" "" "{PMID:Furey 2018:29983323}" "" "delTCCGCAC" "candidate disease gene" "Germline" "yes" "" "0" "" "" "g.95469005_95469011del" "" "likely pathogenic (!)" "" "0000922632" "0" "70" "9" "98239826" "98239826" "subst" "0" "00006" "PTCH1_000724" "g.98239826T>C" "" "{PMID:Furey 2018:29983323}" "" "1503+3T>C" "candidate disease gene" "De novo" "" "" "0" "" "" "g.95477544T>C" "" "likely pathogenic (!)" "" "0000922633" "0" "70" "9" "98248095" "98248096" "del" "0" "00006" "PTCH1_000725" "g.98248095_98248096del" "" "{PMID:Furey 2018:29983323}" "" "delGT" "candidate disease gene" "De novo" "" "" "0" "" "" "g.95485813_95485814del" "" "likely pathogenic (!)" "" "0000925081" "0" "70" "9" "98239964" "98239965" "ins" "0" "02327" "PTCH1_000727" "g.98239964_98239965insTA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925082" "0" "90" "9" "98240431" "98240434" "del" "0" "02327" "PTCH1_000728" "g.98240431_98240434del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925083" "0" "30" "9" "98241314" "98241314" "subst" "8.93343E-5" "02325" "PTCH1_000729" "g.98241314T>C" "" "" "" "PTCH1(NM_000264.5):c.1183A>G (p.I395V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925084" "0" "70" "9" "98244415" "98244415" "subst" "0" "02327" "PTCH1_000730" "g.98244415C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925085" "0" "30" "9" "98244446" "98244446" "subst" "2.84338E-5" "02329" "PTCH1_000731" "g.98244446C>T" "" "" "" "PTCH1(NM_000264.5):c.624G>A (p.E208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925086" "0" "30" "9" "98268765" "98268765" "subst" "0.0142905" "01804" "PTCH1_000610" "g.98268765G>A" "" "" "" "PTCH1(NM_000264.3):c.318C>T (p.(Leu106=)), PTCH1(NM_000264.5):c.318C>T (p.L106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925087" "0" "50" "9" "98279102" "98279102" "subst" "8.52471E-6" "02326" "PTCH1_000732" "g.98279102T>C" "" "" "" "PTCH1(NM_001083603.2):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927590" "0" "70" "9" "98220294" "98220294" "subst" "0" "03779" "PTCH1_000733" "g.98220294C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000929629" "0" "70" "9" "98244230" "98244230" "subst" "0" "02327" "PTCH1_000734" "g.98244230C>T" "" "" "" "PTCH1(NM_001354919.1):c.549G>A (p.L183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929630" "0" "90" "9" "98244230" "98244230" "subst" "0" "02326" "PTCH1_000734" "g.98244230C>T" "" "" "" "PTCH1(NM_001354919.1):c.549G>A (p.L183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929631" "0" "90" "9" "98268799" "98268799" "del" "0" "02329" "PTCH1_000379" "g.98268799del" "" "" "" "PTCH1(NM_000264.5):c.290delA (p.N97Tfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931917" "0" "70" "9" "98242667" "98242667" "subst" "0" "03779" "PTCH1_000701" "g.98242667C>T" "" "" "" "" "" "Unknown" "" "rs1588609575" "0" "" "" "" "" "likely pathogenic" "" "0000931925" "0" "90" "9" "98231297" "98231297" "del" "0" "03779" "PTCH1_000735" "g.98231297del" "" "" "" "" "" "Unknown" "" "rs2118048177" "0" "" "" "" "" "pathogenic" "" "0000946770" "21" "90" "9" "98240372" "98240372" "dup" "0" "04600" "PTCH1_000736" "g.98240372dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95478090dup" "" "pathogenic (dominant)" "" "0000949328" "0" "90" "9" "98241282" "98241287" "del" "0" "02329" "PTCH1_000737" "g.98241282_98241287del" "" "" "" "PTCH1(NM_000264.5):c.1212_1215+2delGGAGGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949329" "0" "90" "9" "98242800" "98242806" "del" "0" "02327" "PTCH1_000738" "g.98242800_98242806del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000954148" "0" "70" "9" "98229458" "98229458" "subst" "0" "00006" "PTCH1_000739" "g.98229458A>C" "" "{PMID:Aubert-Mucca 2021:32737437}" "" "" "ACMG PM1, PM2, PP3" "Germline" "" "" "0" "" "" "g.95467176A>C" "SCV001364584" "likely pathogenic (dominant)" "ACMG" "0000965544" "0" "30" "9" "98209585" "98209585" "subst" "0.000198523" "01804" "PTCH1_000718" "g.98209585G>A" "" "" "" "PTCH1(NM_000264.3):c.3953C>T (p.(Pro1318Leu)), PTCH1(NM_000264.5):c.3953C>T (p.P1318L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965545" "0" "50" "9" "98209591" "98209591" "subst" "0.000553971" "02325" "PTCH1_000461" "g.98209591T>C" "" "" "" "PTCH1(NM_000264.3):c.3947A>G (p.(Tyr1316Cys)), PTCH1(NM_000264.5):c.3947A>G (p.Y1316C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965548" "0" "70" "9" "98239105" "98239105" "subst" "0" "02327" "PTCH1_000740" "g.98239105T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000965550" "0" "30" "9" "98270607" "98270607" "subst" "0.000783524" "02329" "PTCH1_000614" "g.98270607G>C" "" "" "" "PTCH1(NM_000264.3):c.37C>G (p.R13G, p.(Arg13Gly)), PTCH1(NM_000264.5):c.37C>G (p.R13G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978826" "0" "50" "9" "98209583" "98209583" "subst" "3.72322E-5" "01804" "PTCH1_000741" "g.98209583G>A" "" "" "" "PTCH1(NM_000264.3):c.3955C>T (p.(Arg1319Cys)), PTCH1(NM_000264.5):c.3955C>T (p.R1319C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978827" "0" "30" "9" "98212185" "98212185" "subst" "0.000531988" "01804" "PTCH1_000404" "g.98212185C>T" "" "" "" "PTCH1(NM_000264.5):c.3487G>A (p.(Gly1163Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978828" "0" "30" "9" "98220583" "98220583" "subst" "0.000161875" "01804" "PTCH1_000583" "g.98220583G>A" "" "" "" "PTCH1(NM_000264.5):c.2888-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978829" "0" "70" "9" "98239040" "98239040" "subst" "0" "02327" "PTCH1_000338" "g.98239040C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978830" "0" "90" "9" "98241301" "98241301" "subst" "0" "02329" "PTCH1_000309" "g.98241301C>T" "" "" "" "PTCH1(NM_000264.5):c.1196G>A (p.W399*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978831" "0" "50" "9" "98242697" "98242697" "subst" "4.06755E-6" "01804" "PTCH1_000742" "g.98242697G>A" "" "" "" "PTCH1(NM_000264.3):c.920C>T (p.(Thr307Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978832" "0" "50" "9" "98242748" "98242748" "subst" "0" "01804" "PTCH1_000743" "g.98242748C>T" "" "" "" "PTCH1(NM_000264.5):c.869G>A (p.(Gly290Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978833" "0" "30" "9" "98242840" "98242840" "subst" "1.62479E-5" "01804" "PTCH1_000744" "g.98242840G>A" "" "" "" "PTCH1(NM_000264.5):c.777C>T (p.(Phe259=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978834" "0" "30" "9" "98247991" "98247991" "subst" "2.43698E-5" "01804" "PTCH1_000745" "g.98247991C>T" "" "" "" "PTCH1(NM_000264.5):c.560G>A (p.(Arg187His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978835" "0" "90" "9" "98248148" "98248148" "subst" "0" "02325" "PTCH1_000447" "g.98248148G>A" "" "" "" "PTCH1(NM_000264.5):c.403C>T (p.R135*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978836" "0" "50" "9" "98268854" "98268854" "subst" "0" "01804" "PTCH1_000746" "g.98268854G>C" "" "" "" "PTCH1(NM_000264.3):c.229C>G (p.(Leu77Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978837" "0" "50" "9" "98279090" "98279090" "del" "0" "01804" "PTCH1_000747" "g.98279090del" "" "" "" "PTCH1(NM_001083603.3):c.14del (p.(Asn5Ilefs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987791" "0" "50" "9" "98248218" "98248218" "subst" "0" "03779" "PTCH1_000748" "g.98248218G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1841935827" "0" "" "" "" "" "VUS" "" "0000987844" "0" "50" "9" "98211309" "98211309" "subst" "1.65176E-5" "03779" "PTCH1_000749" "g.98211309C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs778808208" "0" "" "" "" "" "VUS" "" "0000987939" "0" "50" "9" "98224226" "98224226" "subst" "0" "03779" "PTCH1_000750" "g.98224226T>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs769029578" "0" "" "" "" "" "VUS" "" "0000998012" "0" "30" "9" "98209264" "98209264" "subst" "4.06171E-5" "01804" "PTCH1_000622" "g.98209264G>A" "" "" "" "PTCH1(NM_000264.3):c.4274C>T (p.(Ser1425Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998013" "0" "50" "9" "98209298" "98209298" "subst" "0.000142167" "01804" "PTCH1_000678" "g.98209298C>T" "" "" "" "PTCH1(NM_000264.3):c.4240G>A (p.(Val1414Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998014" "0" "70" "9" "98209358" "98209358" "subst" "0" "01804" "PTCH1_000616" "g.98209358G>A" "" "" "" "PTCH1(NM_000264.3):c.4180C>T (p.(Arg1394*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998015" "0" "30" "9" "98209591" "98209591" "subst" "0.000553971" "02329" "PTCH1_000461" "g.98209591T>C" "" "" "" "PTCH1(NM_000264.3):c.3947A>G (p.(Tyr1316Cys)), PTCH1(NM_000264.5):c.3947A>G (p.Y1316C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998016" "0" "50" "9" "98209625" "98209625" "subst" "8.23845E-6" "01804" "PTCH1_000751" "g.98209625C>T" "" "" "" "PTCH1(NM_000264.3):c.3913G>A (p.(Asp1305Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998017" "0" "30" "9" "98209722" "98209722" "subst" "0.000103697" "02329" "PTCH1_000752" "g.98209722G>A" "" "" "" "PTCH1(NM_000264.5):c.3816C>T (p.P1272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998018" "0" "30" "9" "98211397" "98211397" "subst" "1.22091E-5" "01804" "PTCH1_000753" "g.98211397T>C" "" "" "" "PTCH1(NM_000264.3):c.3758A>G (p.(Gln1253Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998019" "0" "50" "9" "98211449" "98211449" "subst" "1.24017E-5" "01804" "PTCH1_000754" "g.98211449C>T" "" "" "" "PTCH1(NM_000264.3):c.3706G>A (p.(Glu1236Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998020" "0" "30" "9" "98211512" "98211512" "subst" "0" "01804" "PTCH1_000755" "g.98211512G>A" "" "" "" "PTCH1(NM_000264.3):c.3643C>T (p.(His1215Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998021" "0" "30" "9" "98211514" "98211514" "subst" "0.000363475" "01804" "PTCH1_000756" "g.98211514G>A" "" "" "" "PTCH1(NM_000264.3):c.3641C>T (p.(Thr1214Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998022" "0" "30" "9" "98212200" "98212200" "subst" "8.1217E-6" "01804" "PTCH1_000757" "g.98212200T>G" "" "" "" "PTCH1(NM_000264.3):c.3472A>C (p.(Ile1158Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998023" "0" "30" "9" "98220527" "98220527" "subst" "1.63091E-5" "01804" "PTCH1_000758" "g.98220527T>C" "" "" "" "PTCH1(NM_000264.3):c.2936A>G (p.(Asn979Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998024" "0" "30" "9" "98221950" "98221950" "subst" "4.06062E-6" "01804" "PTCH1_000759" "g.98221950T>C" "" "" "" "PTCH1(NM_000264.3):c.2819A>G (p.(Asn940Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998025" "0" "50" "9" "98221972" "98221972" "subst" "1.62422E-5" "01804" "PTCH1_000760" "g.98221972C>T" "" "" "" "PTCH1(NM_000264.3):c.2797G>A (p.(Ala933Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998026" "0" "50" "9" "98222052" "98222052" "subst" "0" "01804" "PTCH1_000761" "g.98222052C>A" "" "" "" "PTCH1(NM_000264.3):c.2717G>T (p.(Arg906Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998027" "0" "30" "9" "98229488" "98229488" "subst" "0" "01804" "PTCH1_000762" "g.98229488T>C" "" "" "" "PTCH1(NM_000264.3):c.2470A>G (p.(Arg824Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998028" "0" "30" "9" "98229610" "98229610" "subst" "1.62434E-5" "01804" "PTCH1_000763" "g.98229610C>T" "" "" "" "PTCH1(NM_000264.3):c.2348G>A (p.(Arg783Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998029" "0" "30" "9" "98231178" "98231178" "subst" "1.21849E-5" "01804" "PTCH1_000764" "g.98231178G>C" "" "" "" "PTCH1(NM_000264.3):c.2105C>G (p.(Pro702Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998030" "0" "50" "9" "98231263" "98231263" "subst" "4.0622E-6" "02325" "PTCH1_000765" "g.98231263C>T" "" "" "" "PTCH1(NM_000264.5):c.2020G>A (p.V674M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998031" "0" "50" "9" "98231371" "98231371" "subst" "4.06441E-6" "01804" "PTCH1_000766" "g.98231371G>A" "" "" "" "PTCH1(NM_000264.3):c.1912C>T (p.(Arg638Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998032" "0" "50" "9" "98231409" "98231409" "subst" "4.06405E-6" "01804" "PTCH1_000767" "g.98231409A>T" "" "" "" "PTCH1(NM_000264.3):c.1874T>A (p.(Val625Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998033" "0" "30" "9" "98240474" "98240474" "subst" "0.000373583" "01804" "PTCH1_000602" "g.98240474G>T" "" "" "" "PTCH1(NM_000264.3):c.1216-6C>A (p.?), PTCH1(NM_001083602.3):c.1018-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998034" "0" "50" "9" "98268797" "98268797" "subst" "0" "01804" "PTCH1_000768" "g.98268797T>G" "" "" "" "PTCH1(NM_000264.3):c.286A>C (p.(Lys96Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998035" "0" "50" "9" "98270553" "98270559" "dup" "0" "01804" "PTCH1_000769" "g.98270553_98270559dup" "" "" "" "PTCH1(NM_000264.3):c.92_98dupGGAGGCG (p.(Arg34fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008496" "0" "50" "9" "98247964" "98247964" "subst" "0" "03779" "PTCH1_000771" "g.98247964T>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001008520" "0" "90" "9" "98239915" "98239915" "del" "0" "03779" "PTCH1_000770" "g.98239915del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001008523" "0" "70" "9" "98239117" "98239117" "subst" "0" "03779" "PTCH1_000334" "g.98239117C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1060502268" "0" "" "" "" "" "likely pathogenic" "" "0001011570" "0" "50" "9" "98270588" "98270588" "subst" "0" "03779" "PTCH1_000772" "g.98270588C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs587780708" "0" "" "" "" "" "VUS" "" "0001014574" "0" "30" "9" "98224161" "98224161" "subst" "0.00025586" "02325" "PTCH1_000773" "g.98224161C>T" "" "" "" "PTCH1(NM_000264.5):c.2680G>A (p.D894N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014575" "0" "30" "9" "98241259" "98241259" "subst" "0.00189716" "02329" "PTCH1_000774" "g.98241259C>T" "" "" "" "PTCH1(NM_000264.5):c.1215+23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014576" "0" "50" "9" "98270443" "98270443" "subst" "0" "02329" "PTCH1_000775" "g.98270443C>T" "" "" "" "PTCH1(NM_000264.5):c.201G>A (p.K67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025690" "0" "30" "9" "98209213" "98209213" "subst" "0.000435239" "02327" "PTCH1_000552" "g.98209213C>T" "" "" "" "PTCH1(NM_000264.3):c.4325G>A (p.(Arg1442Gln)), PTCH1(NM_000264.5):c.4325G>A (p.R1442Q), PTCH1(NM_001354918.2):c.4169G>A (p.R1390Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025691" "0" "50" "9" "98209583" "98209583" "subst" "3.72322E-5" "02325" "PTCH1_000741" "g.98209583G>A" "" "" "" "PTCH1(NM_000264.3):c.3955C>T (p.(Arg1319Cys)), PTCH1(NM_000264.5):c.3955C>T (p.R1319C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025692" "0" "30" "9" "98211522" "98211522" "subst" "0.000170055" "02329" "PTCH1_000776" "g.98211522G>C" "" "" "" "PTCH1(NM_000264.5):c.3633C>G (p.P1211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025693" "0" "70" "9" "98229554" "98229556" "del" "0" "02325" "PTCH1_000777" "g.98229554_98229556del" "" "" "" "PTCH1(NM_000264.5):c.2405_2407delACA (p.N802del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025694" "0" "10" "9" "98231100" "98231100" "subst" "0.001608" "02329" "PTCH1_000351" "g.98231100G>A" "" "" "" "PTCH1(NM_000264.5):c.2183C>T (p.T728M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025695" "0" "50" "9" "98231389" "98231389" "subst" "1.62596E-5" "02329" "PTCH1_000644" "g.98231389C>T" "" "" "" "PTCH1(NM_000264.5):c.1894G>A (p.(Asp632Asn), p.D632N), PTCH1(NM_001083602.1):c.1696G>A (p.D566N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025696" "0" "30" "9" "98270607" "98270607" "subst" "0.000783524" "02325" "PTCH1_000614" "g.98270607G>C" "" "" "" "PTCH1(NM_000264.3):c.37C>G (p.R13G, p.(Arg13Gly)), PTCH1(NM_000264.5):c.37C>G (p.R13G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037639" "0" "30" "9" "98209217" "98209217" "subst" "1.62658E-5" "01804" "PTCH1_000687" "g.98209217G>A" "" "" "" "PTCH1(NM_000264.5):c.4321C>T (p.(Pro1441Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037640" "0" "50" "9" "98218563" "98218563" "subst" "0" "01804" "PTCH1_000778" "g.98218563C>T" "" "" "" "PTCH1(NM_000264.5):c.3301G>A (p.(Ala1101Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037641" "0" "30" "9" "98218623" "98218623" "subst" "9.34503E-5" "01804" "PTCH1_000459" "g.98218623C>T" "" "" "" "PTCH1(NM_000264.5):c.3241G>A (p.(Val1081Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037642" "0" "30" "9" "98229430" "98229430" "subst" "1.62472E-5" "01804" "PTCH1_000779" "g.98229430A>G" "" "" "" "PTCH1(NM_000264.5):c.2528T>C (p.(Met843Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037643" "0" "70" "9" "98229554" "98229556" "del" "0" "02327" "PTCH1_000777" "g.98229554_98229556del" "" "" "" "PTCH1(NM_000264.5):c.2405_2407delACA (p.N802del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037644" "0" "70" "9" "98231241" "98231241" "subst" "0" "02327" "PTCH1_000780" "g.98231241G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037645" "0" "30" "9" "98231389" "98231389" "subst" "1.62596E-5" "01804" "PTCH1_000644" "g.98231389C>T" "" "" "" "PTCH1(NM_000264.5):c.1894G>A (p.(Asp632Asn), p.D632N), PTCH1(NM_001083602.1):c.1696G>A (p.D566N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037646" "0" "50" "9" "98232132" "98232132" "subst" "1.62429E-5" "01804" "PTCH1_000781" "g.98232132C>T" "" "" "" "PTCH1(NM_000264.5):c.1810G>A (p.(Glu604Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037647" "0" "50" "9" "98242354" "98242354" "subst" "0" "01804" "PTCH1_000782" "g.98242354C>T" "" "" "" "PTCH1(NM_000264.5):c.964G>A (p.(Val322Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037648" "0" "30" "9" "98247984" "98247984" "subst" "0.000288379" "02329" "PTCH1_000783" "g.98247984A>G" "" "" "" "PTCH1(NM_000264.5):c.567T>C (p.H189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037649" "0" "30" "9" "98270667" "98270669" "del" "0" "02325" "PTCH1_000784" "g.98270667_98270669del" "" "" "" "PTCH1(NM_000264.5):c.-6_-4delGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046217" "0" "90" "9" "98224253" "98224253" "subst" "0" "02327" "PTCH1_000785" "g.98224253C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001053289" "0" "30" "9" "98211342" "98211342" "subst" "0" "01804" "PTCH1_000786" "g.98211342G>A" "" "" "" "PTCH1(NM_000264.5):c.3804+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053290" "0" "30" "9" "98224149" "98224149" "subst" "0.000199025" "01804" "PTCH1_000586" "g.98224149C>T" "" "" "" "PTCH1(NM_000264.3):c.2692G>A (p.D898N), PTCH1(NM_000264.5):c.2692G>A (p.(Asp898Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053291" "0" "30" "9" "98229465" "98229465" "subst" "0" "01804" "PTCH1_000787" "g.98229465A>G" "" "" "" "PTCH1(NM_000264.5):c.2493T>C (p.(Tyr831=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053292" "0" "50" "9" "98279068" "98279068" "dup" "0" "01804" "PTCH1_000788" "g.98279068dup" "" "" "" "PTCH1(NM_001083603.3):c.35dup (p.(Ser13Glufs*26))" "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 PTCH1 ## Count = 832 "{{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}}" "0000063794" "00017082" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Gln417*)" "9" "0000063798" "00017082" "90" "3010" "0" "3010" "0" "c.3010del" "r.(?)" "p.(Leu1004Trpfs*45)" "18" "0000063802" "00017082" "10" "3944" "0" "3944" "0" "c.3944C>T" "r.(?)" "p.(Pro1315Leu)" "23" "0000063803" "00017082" "90" "600" "0" "600" "0" "c.600del" "r.(?)" "p.(Glu200Aspfs*20)" "4" "0000063808" "00017082" "50" "1525" "0" "1525" "0" "c.1525G>C" "r.(?)" "p.(Gly509Arg)" "11" "0000063809" "00017082" "90" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Thr230Ile)" "5" "0000063810" "00017082" "10" "-6" "0" "-4" "0" "c.-6_-4dup" "r.(=)" "p.(=)" "1" "0000063811" "00017082" "90" "2863" "0" "2863" "0" "c.2863dup" "r.(?)" "p.(Tyr955Leufs*4)" "17i" "0000086458" "00017082" "70" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Ala393Thr)" "8" "0000086459" "00017082" "70" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Ala393Thr)" "8" "0000086495" "00017082" "90" "2183" "0" "2183" "0" "c.2183C>T" "r.(?)" "p.(Thr728Met)" "14" "0000086496" "00017082" "90" "2183" "0" "2183" "0" "c.2183C>T" "r.(?)" "p.(Thr728Met)" "14" "0000086497" "00017082" "90" "2183" "0" "2183" "0" "c.2183C>T" "r.(?)" "p.(Thr728Met)" "14" "0000086498" "00017082" "90" "2183" "0" "2183" "0" "c.2183C>T" "r.(?)" "p.(Thr728Met)" "14" "0000086499" "00017082" "70" "2479" "0" "2479" "0" "c.2479A>G" "r.(?)" "p.(Ser827Gly)" "15" "0000086570" "00017082" "70" "2479" "0" "2479" "0" "c.2479A>G" "r.(?)" "p.(Ser827Gly)" "15" "0000086571" "00017082" "70" "3155" "0" "3155" "0" "c.3155C>T" "r.(?)" "p.(Thr1052Met)" "18" "0000086572" "00017082" "70" "3155" "0" "3155" "0" "c.3155C>T" "r.(?)" "p.(Thr1052Met)" "18" "0000086573" "00017082" "70" "3155" "0" "3155" "0" "c.3155C>T" "r.(?)" "p.(Thr1052Met)" "18" "0000094380" "00017082" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Trp78*)" "2" "0000094381" "00017082" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Gln84*)" "2" "0000094382" "00017082" "90" "279" "0" "279" "0" "c.279C>A" "r.(?)" "p.(Tyr93*)" "2" "0000094383" "00017082" "90" "305" "0" "305" "0" "c.305T>A" "r.(?)" "p.(Leu102*)" "2" "0000094384" "00017082" "90" "317" "0" "317" "0" "c.317T>G" "r.(?)" "p.(Leu106Arg)" "2" "0000094385" "00017082" "90" "328" "0" "328" "0" "c.328G>C" "r.(?)" "p.(Gly110Arg)" "2" "0000094386" "00017082" "90" "379" "0" "379" "0" "c.379G>T" "r.(?)" "p.(Glu127*)" "3" "0000094387" "00017082" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Trp129*)" "3" "0000094388" "00017082" "90" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Trp129*)" "3" "0000094389" "00017082" "90" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135*)" "3" "0000094390" "00017082" "90" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Gln160*)" "3" "0000094391" "00017082" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Gln184*)" "3" "0000094392" "00017082" "90" "661" "0" "661" "0" "c.661G>T" "r.(?)" "p.(Glu221*)" "5" "0000094393" "00017082" "90" "672" "0" "672" "0" "c.672C>A" "r.(?)" "p.(Tyr224*)" "5" "0000094394" "00017082" "90" "688" "0" "688" "0" "c.688A>C" "r.(?)" "p.(Thr230Pro)" "5" "0000094395" "00017082" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "5" "0000094396" "00017082" "90" "722" "0" "722" "0" "c.722T>G" "r.(?)" "p.(Leu241*)" "5" "0000094397" "00017082" "90" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Trp256*)" "6" "0000094398" "00017082" "90" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Gln274*)" "6" "0000094399" "00017082" "90" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Trp278*)" "6" "0000094400" "00017082" "90" "863" "0" "863" "0" "c.863G>A" "r.(?)" "p.(Gly288Asp)" "6" "0000094401" "00017082" "90" "873" "0" "873" "0" "c.873C>G" "r.(?)" "p.(Tyr291*)" "6" "0000094402" "00017082" "90" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Pro295Ser)" "6" "0000094403" "00017082" "90" "938" "0" "938" "0" "c.938C>G" "r.(?)" "p.(Ser313*)" "6" "0000094404" "00017082" "90" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(Glu339Gly)" "7" "0000094405" "00017082" "90" "1018" "0" "1018" "0" "c.1018G>T" "r.(?)" "p.(Glu340*)" "7" "0000094406" "00017082" "90" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Gln365*)" "8" "0000094407" "00017082" "90" "1115" "0" "1115" "0" "c.1115T>G" "r.(?)" "p.(Met372Arg)" "8" "0000094408" "00017082" "90" "1127" "0" "1127" "0" "c.1127T>C" "r.(?)" "p.(Phe376Ser)" "8" "0000094409" "00017082" "90" "1138" "0" "1138" "0" "c.1138G>T" "r.(?)" "p.(Glu380*)" "8" "0000094410" "00017082" "90" "1148" "0" "1148" "0" "c.1148C>A" "r.(?)" "p.(Ser383*)" "8" "0000094411" "00017082" "90" "1148" "0" "1148" "0" "c.1148C>G" "r.(?)" "p.(Ser383*)" "8" "0000094412" "00017082" "90" "1160" "0" "1160" "0" "c.1160G>A" "r.(?)" "p.(Trp387*)" "8" "0000094413" "00017082" "90" "1162" "0" "1162" "0" "c.1162A>T" "r.(?)" "p.(Asn388Tyr)" "8" "0000094414" "00017082" "90" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Ala393Thr)" "8" "0000094415" "00017082" "90" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Trp399*)" "8" "0000094416" "00017082" "90" "1234" "0" "1234" "0" "c.1234G>T" "r.(?)" "p.(Ala412Ser)" "9" "0000094417" "00017082" "90" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Gln413*)" "9" "0000094418" "00017082" "90" "1247" "0" "1247" "0" "c.1247C>G" "r.(?)" "p.(Thr416Ser)" "9" "0000094419" "00017082" "90" "1325" "0" "1325" "0" "c.1325T>A" "r.(?)" "p.(Val442Glu)" "9" "0000094420" "00017082" "90" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(Ala443Gly)" "9" "0000094421" "00017082" "90" "1346" "0" "1346" "0" "c.1346T>A" "r.(?)" "p.(Met449Lys)" "9" "0000094422" "00017082" "90" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(Trp460*)" "10" "0000094423" "00017082" "90" "1415" "0" "1415" "0" "c.1415C>A" "r.(?)" "p.(Ala472Asp)" "10" "0000094424" "00017082" "90" "1436" "0" "1436" "0" "c.1436T>G" "r.(?)" "p.(Leu479Arg)" "10" "0000094425" "00017082" "90" "1450" "0" "1450" "0" "c.1450G>A" "r.(?)" "p.(Gly484Arg)" "10" "0000094426" "00017082" "90" "1451" "0" "1451" "0" "c.1451G>T" "r.(?)" "p.(Gly484Val)" "10" "0000094427" "00017082" "90" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Pro504Leu)" "11" "0000094428" "00017082" "90" "1525" "0" "1525" "0" "c.1525G>C" "r.(?)" "p.(Gly509Arg)" "11" "0000094429" "00017082" "90" "1526" "0" "1526" "0" "c.1526G>A" "r.(?)" "p.(Gly509Asp)" "11" "0000094430" "00017082" "90" "1526" "0" "1526" "0" "c.1526G>T" "r.(?)" "p.(Gly509Val)" "11" "0000094431" "00017082" "90" "1531" "0" "1531" "0" "c.1531G>C" "r.(?)" "p.(Gly511Arg)" "11" "0000094432" "00017082" "90" "1537" "0" "1537" "0" "c.1537G>T" "r.(?)" "p.(Asp513Tyr)" "11" "0000094433" "00017082" "90" "1585" "0" "1585" "0" "c.1585A>T" "r.(?)" "p.(Lys529*)" "11" "0000094434" "00017082" "90" "1660" "0" "1660" "0" "c.1660A>C" "r.(?)" "p.(Ser554Arg)" "12" "0000094435" "00017082" "90" "1670" "0" "1670" "0" "c.1670C>G" "r.(?)" "p.(Thr557Arg)" "12" "0000094436" "00017082" "90" "1778" "0" "1778" "0" "c.1778C>G" "r.(?)" "p.(Pro593Arg)" "13" "0000094437" "00017082" "90" "1803" "0" "1803" "0" "c.1803T>G" "r.(?)" "p.(Tyr601*)" "13" "0000094438" "00017082" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602*)" "13" "0000094439" "00017082" "90" "1941" "0" "1941" "0" "c.1941C>A" "r.(?)" "p.(Ser647Arg)" "14" "0000094440" "00017082" "90" "1939" "0" "1939" "0" "c.1939A>T" "r.(?)" "p.(Ser647Cys)" "14" "0000094441" "00017082" "90" "1987" "0" "1987" "0" "c.1987C>T" "r.(?)" "p.(Gln663*)" "14" "0000094442" "00017082" "90" "2062" "0" "2062" "0" "c.2062C>T" "r.(?)" "p.(Gln688*)" "14" "0000094443" "00017082" "90" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Gln694*)" "14" "0000094444" "00017082" "90" "2140" "0" "2140" "0" "c.2140C>T" "r.(?)" "p.(Gln714*)" "14" "0000094445" "00017082" "90" "2183" "0" "2183" "0" "c.2183C>T" "r.(?)" "p.(Thr728Met)" "14" "0000094446" "00017082" "90" "2186" "0" "2186" "0" "c.2186A>T" "r.(?)" "p.(Lys729Met)" "14" "0000094447" "00017082" "90" "2252" "0" "2252" "0" "c.2252T>G" "r.(?)" "p.(Val751Gly)" "15" "0000094448" "00017082" "90" "2320" "0" "2320" "0" "c.2320G>A" "r.(?)" "p.(Gly774Arg)" "15" "0000094449" "00017082" "90" "2391" "0" "2391" "0" "c.2391C>A" "r.(?)" "p.(Tyr797*)" "15" "0000094450" "00017082" "90" "2412" "0" "2412" "0" "c.2412T>G" "r.(?)" "p.(Tyr804*)" "15" "0000094451" "00017082" "90" "2446" "0" "2446" "0" "c.2446C>T" "r.(?)" "p.(Gln816*)" "15" "0000094452" "00017082" "90" "2453" "0" "2453" "0" "c.2453T>A" "r.(?)" "p.(Leu818*)" "15" "0000094453" "00017082" "90" "2465" "0" "2465" "0" "c.2465T>C" "r.(?)" "p.(Leu822Pro)" "15" "0000094454" "00017082" "90" "2479" "0" "2479" "0" "c.2479A>G" "r.(?)" "p.(Ser827Gly)" "15" "0000094455" "00017082" "90" "2619" "0" "2619" "0" "c.2619C>A" "r.(?)" "p.(Tyr873*)" "16" "0000094456" "00017082" "90" "2713" "0" "2713" "0" "c.2713C>T" "r.(?)" "p.(Gln905*)" "17" "0000094457" "00017082" "90" "2723" "0" "2723" "0" "c.2723T>G" "r.(?)" "p.(Val908Gly)" "17" "0000094458" "00017082" "90" "2760" "0" "2760" "0" "c.2760C>A" "r.(?)" "p.(Tyr920*)" "17" "0000094459" "00017082" "90" "2776" "0" "2776" "0" "c.2776T>C" "r.(?)" "p.(Trp926Arg)" "17" "0000094460" "00017082" "90" "2778" "0" "2778" "0" "c.2778G>A" "r.(?)" "p.(Trp926*)" "17" "0000094461" "00017082" "90" "2833" "0" "2833" "0" "c.2833C>T" "r.(?)" "p.(Arg945*)" "17" "0000094462" "00017082" "90" "2839" "0" "2839" "0" "c.2839G>T" "r.(?)" "p.(Glu947*)" "17" "0000094463" "00017082" "90" "2908" "0" "2908" "0" "c.2908G>T" "r.(?)" "p.(Glu970*)" "18" "0000094464" "00017082" "90" "2945" "0" "2945" "0" "c.2945G>A" "r.(?)" "p.(Arg982Gln)" "18" "0000094465" "00017082" "90" "3027" "0" "3027" "0" "c.3027C>A" "r.(?)" "p.(Tyr1009*)" "18" "0000094466" "00017082" "90" "3053" "0" "3053" "0" "c.3053G>A" "r.(?)" "p.(Trp1018*)" "18" "0000094467" "00017082" "90" "3058" "0" "3058" "0" "c.3058C>T" "r.(?)" "p.(Gln1020*)" "18" "0000094468" "00017082" "90" "3062" "0" "3062" "0" "c.3062A>G" "r.(?)" "p.(Tyr1021Cys)" "18" "0000094469" "00017082" "90" "3146" "0" "3146" "0" "c.3146A>T" "r.(?)" "p.(Asn1049Ile)" "18" "0000094470" "00017082" "90" "3155" "0" "3155" "0" "c.3155C>T" "r.(?)" "p.(Thr1052Met)" "18" "0000094471" "00017082" "90" "3196" "0" "3196" "0" "c.3196G>T" "r.(?)" "p.(Glu1066*)" "19" "0000094472" "00017082" "90" "3205" "0" "3205" "0" "c.3205G>C" "r.(?)" "p.(Gly1069Arg)" "19" "0000094473" "00017082" "90" "3206" "0" "3206" "0" "c.3206G>A" "r.(?)" "p.(Gly1069Asp)" "19" "0000094474" "00017082" "90" "3265" "0" "3265" "0" "c.3265T>C" "r.(?)" "p.(Ser1089Pro)" "19" "0000094475" "00017082" "90" "3277" "0" "3277" "0" "c.3277G>A" "r.(?)" "p.(Gly1093Arg)" "19" "0000094476" "00017082" "90" "3277" "0" "3277" "0" "c.3277G>C" "r.(?)" "p.(Gly1093Arg)" "19" "0000094477" "00017082" "90" "3277" "0" "3277" "0" "c.3277G>T" "r.(?)" "p.(Gly1093*)" "19" "0000094478" "00017082" "90" "3296" "0" "3296" "0" "c.3296A>G" "r.(?)" "p.(His1099Arg)" "19" "0000094479" "00017082" "90" "3340" "0" "3340" "0" "c.3340A>T" "r.(?)" "p.(Arg1114Trp)" "20" "0000094480" "00017082" "90" "3394" "0" "3394" "0" "c.3394T>C" "r.(?)" "p.(Ser1132Pro)" "20" "0000094481" "00017082" "90" "3395" "0" "3395" "0" "c.3395C>A" "r.(?)" "p.(Ser1132Tyr)" "20" "0000094482" "00017082" "90" "3422" "0" "3422" "0" "c.3422C>T" "r.(?)" "p.(Ala1141Val)" "20" "0000094483" "00017082" "90" "3440" "0" "3440" "0" "c.3440T>G" "r.(?)" "p.(Phe1147Cys)" "20" "0000094484" "00017082" "30" "3487" "0" "3487" "0" "c.3487G>A" "r.(?)" "p.(Gly1163Ser)" "21" "0000094485" "00017082" "90" "3499" "0" "3499" "0" "c.3499G>A" "r.(?)" "p.(Gly1167Arg)" "21" "0000094486" "00017082" "90" "3583" "0" "3583" "0" "c.3583A>T" "r.(?)" "p.(Thr1195Ser)" "22" "0000094487" "00017082" "90" "3724" "0" "3724" "0" "c.3724G>C" "r.(?)" "p.(Glu1242Gln)" "22" "0000094488" "00017082" "90" "3944" "0" "3944" "0" "c.3944C>T" "r.(?)" "p.(Pro1315Leu)" "23" "0000094489" "00017082" "90" "3956" "0" "3956" "0" "c.3956G>A" "r.(?)" "p.(Arg1319His)" "23" "0000094490" "00017082" "90" "4148" "0" "4148" "0" "c.4148C>T" "r.(?)" "p.(Pro1383Leu)" "23" "0000094491" "00017082" "90" "4314" "0" "4314" "0" "c.4314G>T" "r.(?)" "p.(Glu1438Asp)" "23" "0000094492" "00017082" "90" "585" "-1" "585" "-1" "c.585-1G>A" "r.spl?" "p.?" "3i" "0000094493" "00017082" "90" "584" "0" "584" "0" "c.584G>A" "r.584_585ins584+1_584+37" "p.(Arg195Lys)" "3" "0000094494" "00017082" "90" "584" "1" "584" "1" "c.584+1G>A" "r.spl?" "p.?" "3i" "0000094495" "00017082" "90" "584" "2" "584" "2" "c.584+2T>G" "r.spl?" "p.?" "3i" "0000094496" "00017082" "90" "655" "-2" "655" "-2" "c.655-2A>T" "r.spl?" "p.?" "4i" "0000094497" "00017082" "90" "654" "2" "654" "2" "c.654+2T>A" "r.spl?" "p.?" "4i" "0000094498" "00017082" "90" "746" "1" "746" "1" "c.746+1G>T" "r.spl?" "p.?" "5i" "0000094499" "00017082" "90" "945" "1" "945" "1" "c.945+1G>C" "r.spl?" "p.?" "6i" "0000094500" "00017082" "90" "945" "5" "945" "5" "c.945+5G>T" "r.945_946ins945+1_946-1" "p.?" "6i" "0000094501" "00017082" "90" "1068" "-10" "1068" "-10" "c.1068-10T>A" "r.1067_1068ins1068-8_1068-1" "p.His357Alafs*12" "7i" "0000094502" "00017082" "90" "1068" "-2" "1068" "-2" "c.1068-2A>C" "r.1068_1083del" "p.(Ser356Argfs*6)" "7i" "0000094503" "00017082" "90" "1067" "1" "1067" "1" "c.1067+1G>C" "r.spl?" "p.?" "7i" "0000094504" "00017082" "90" "1348" "-2" "1348" "-2" "c.1348-2A>G" "r.spl?" "p.?" "9i" "0000094505" "00017082" "90" "1347" "6" "1347" "6" "c.1347+6G>A" "r.1216_1347del" "p.Val406_Met449del" "9i" "0000094506" "00017082" "90" "1504" "-1" "1504" "-1" "c.1504-1G>A" "r.1504_1602del" "p.Val402_Glu534del" "10i" "0000094507" "00017082" "90" "1503" "0" "1503" "0" "c.1503G>A" "r.spl?" "p.(Gln501=)" "10" "0000094508" "00017082" "90" "1503" "1" "1503" "1" "c.1503+1G>C" "r.spl?" "p.?" "10i" "0000094509" "00017082" "90" "1603" "-2" "1603" "-2" "c.1603-2A>C" "r.spl?" "p.?" "11i" "0000094510" "00017082" "90" "1602" "1" "1602" "1" "c.1602+1G>A" "r.spl?" "p.?" "11i" "0000094511" "00017082" "90" "2561" "-2057" "2561" "-2057" "c.2561-2057A>G" "r.2560_2561ins2561-2135_2561-2058" "p.Gly853Valfs*3" "15i" "0000094512" "00017082" "90" "2561" "-2057" "2561" "-2057" "c.2561-2057A>G" "r.2560_2561ins2561-2135_2561-2058" "p.Gly853Valfs*3" "15i" "0000094513" "00017082" "90" "2560" "1" "2560" "1" "c.2560+1G>T" "r.2251_2560del" "p. Val751Aspfs*49" "15i" "0000094514" "00017082" "90" "2560" "2" "2560" "2" "c.2560+2T>C" "r.spl?" "p.?" "15i" "0000094515" "00017082" "90" "479" "0" "482" "0" "c.479_482del" "r.spl?" "p.(Gln160Profs*10)" "3" "0000094517" "00017082" "90" "2703" "1" "2703" "1" "c.2703+1G>T" "r.spl?" "p.?" "16i" "0000094518" "00017082" "90" "2887" "1" "2887" "1" "c.2887+1G>C" "r.spl?" "p.?" "17i" "0000094519" "00017082" "90" "3169" "-2" "3169" "-2" "c.3169-2A>G" "r.3168_3307del" "p.(Val1057_Leu1102del)" "18i" "0000094520" "00017082" "90" "3168" "5" "3168" "5" "c.3168+5G>A" "r.spl?" "p.?" "18i" "0000094521" "00017082" "90" "3450" "-2" "3450" "-2" "c.3450-2A>G" "r.spl?" "p.?" "20i" "0000094523" "00017082" "90" "222" "0" "222" "0" "c.222del" "r.(?)" "p.(Ala75Argfs*5)" "2" "0000094524" "00017082" "90" "240" "0" "241" "0" "c.240_241del" "r.(?)" "p.(Arg80Serfs*9)" "2" "0000094525" "00017082" "90" "254" "0" "255" "0" "c.254_255del" "r.(?)" "p.(Arg85Thrfs*4)" "2" "0000094526" "00017082" "90" "258" "0" "259" "0" "c.258_259del" "r.(?)" "p.(Leu87Ilefs*2)" "2" "0000094527" "00017082" "90" "262" "0" "265" "0" "c.262_265del" "r.(?)" "p.(Phe88Asnfs*28)" "2" "0000094528" "00017082" "90" "290" "0" "290" "0" "c.290del" "r.(?)" "p.(Asn97Thrfs*20)" "2" "0000094529" "00017082" "90" "331" "0" "331" "0" "c.331del" "r.(?)" "p.(Ala111Profs*6)" "2" "0000094530" "00017082" "90" "459" "0" "459" "0" "c.459del" "r.(?)" "p.(Phe153Leufs*6)" "3" "0000094531" "00017082" "90" "531" "0" "533" "0" "c.531_533del" "r.(?)" "p.(Gln177del)" "3" "0000094532" "00017082" "90" "534" "0" "545" "0" "c.534_545del" "r.(?)" "p.(His178_Ala182delinsGln)" "3" "0000094533" "00017082" "90" "746" "3" "746" "10" "c.746+3_746+10del" "r.spl?" "p.?" "5i" "0000094534" "00017082" "90" "746" "3" "746" "4" "c.746+3_746+4del" "r.spl?" "p.?" "5i" "0000094535" "00017082" "90" "534" "0" "545" "0" "c.534_545del" "r.(?)" "p.(His178_Ala182delinsGln)" "3" "0000094537" "00017082" "90" "746" "3" "746" "4" "c.746+3_746+4del" "r.spl?" "p.?" "5i" "0000094538" "00017082" "90" "747" "0" "759" "0" "c.747_759del" "r.(?)" "p.(Gly250Cysfs*15)" "6" "0000094539" "00017082" "90" "771" "0" "780" "0" "c.771_780del" "r.(?)" "p.(Asn258Leufs*8)" "6" "0000094540" "00017082" "90" "811" "0" "811" "0" "c.811del" "r.(?)" "p.(Ile271*)" "6" "0000094541" "00017082" "90" "865" "0" "865" "0" "c.865del" "r.(?)" "p.(His289Metfs*35)" "6" "0000094542" "00017082" "90" "874" "0" "874" "0" "c.874del" "r.(?)" "p.(Met292Trpfs*32)" "6" "0000094543" "00017082" "90" "886" "0" "886" "0" "c.886del" "r.(?)" "p.(Cys296Alafs*28)" "6" "0000094544" "00017082" "90" "903" "0" "903" "0" "c.903del" "r.(?)" "p.(Pro302Glnfs*22)" "6" "0000094545" "00017082" "90" "915" "0" "915" "0" "c.915del" "r.(?)" "p.(Ala306Profs*18)" "6" "0000094546" "00017082" "90" "922" "0" "922" "0" "c.922del" "r.(?)" "p.(Ala308Profs*16)" "6" "0000094547" "00017082" "90" "942" "0" "942" "0" "c.942del" "r.(?)" "p.(Lys315Asnfs*9)" "6" "0000094548" "00017082" "90" "951" "0" "951" "0" "c.951del" "r.(?)" "p.(Asp318Ilefs*6)" "7" "0000094549" "00017082" "90" "980" "0" "980" "0" "c.980del" "r.(?)" "p.(Cys327Phefs*15)" "7" "0000094550" "00017082" "90" "1026" "0" "1026" "0" "c.1026del" "r.(?)" "p.(Ile342Metfs*25)" "7" "0000094551" "00017082" "90" "1042" "0" "1043" "0" "c.1042_1043del" "r.(?)" "p.(Lys348Glufs*88)" "7" "0000094552" "00017082" "90" "1208" "0" "1209" "0" "c.1208_1209del" "r.(?)" "p.(Tyr403Cysfs*33)" "8" "0000094553" "00017082" "90" "1208" "0" "1212" "0" "c.1208_1212del" "r.(?)" "p.(Tyr403*)" "8" "0000094554" "00017082" "90" "1291" "0" "1291" "0" "c.1291del" "r.(?)" "p.(Leu431*)" "9" "0000094555" "00017082" "90" "1340" "0" "1343" "0" "c.1340_1343del" "r.(?)" "p.(Leu447Serfs*8)" "9" "0000094556" "00017082" "90" "1342" "0" "1345" "0" "c.1342_1345del" "r.(?)" "p.(Leu448Cysfs*7)" "9" "0000094557" "00017082" "90" "1366" "0" "1366" "0" "c.1366del" "r.(?)" "p.(Thr456Profs*35)" "10" "0000094558" "00017082" "90" "1414" "0" "1414" "0" "c.1414del" "r.(?)" "p.(Ala472Leufs*19)" "10" "0000094559" "00017082" "90" "1416" "0" "1419" "0" "c.1416_1419del" "r.(?)" "p.(Gly473Serfs*17)" "10" "0000094560" "00017082" "90" "1472" "0" "1472" "0" "c.1472del" "r.(?)" "p.(Ile491Thrfs*51)" "10" "0000094561" "00017082" "90" "1501" "0" "1503" "5" "c.1501_1503+5del" "r.spl?" "p.?" "10_10i" "0000094562" "00017082" "90" "1504" "-12" "1504" "-1" "c.1504-12_1504-1del" "r.spl?" "p.?" "10i" "0000094563" "00017082" "90" "1541" "0" "1543" "0" "c.1541_1543del" "r.(?)" "p.(Asp514del)" "11" "0000094564" "00017082" "90" "1615" "0" "1615" "0" "c.1615del" "r.(?)" "p.(Glu539Serfs*3)" "12" "0000094565" "00017082" "90" "1670" "0" "1671" "0" "c.1670_1671del" "r.(?)" "p.(Thr557Serfs*69)" "12" "0000094566" "00017082" "90" "1704" "0" "1704" "0" "c.1704del" "r.(?)" "p.(Ala569Leufs*11)" "12" "0000094567" "00017082" "90" "1925" "0" "1925" "0" "c.1925del" "r.(?)" "p.(Pro642Hisfs*51)" "14" "0000094568" "00017082" "90" "2011" "0" "2011" "0" "c.2011del" "r.(?)" "p.(His671Thrfs*22)" "14" "0000094569" "00017082" "90" "2029" "0" "2029" "0" "c.2029del" "r.(?)" "p.(Thr677Profs*16)" "14" "0000094570" "00017082" "90" "2132" "0" "2132" "0" "c.2132del" "r.(?)" "p.(Leu711Argfs*35)" "14" "0000094571" "00017082" "90" "2179" "0" "2179" "0" "c.2179del" "r.(?)" "p.(Cys727Valfs*19)" "14" "0000094572" "00017082" "90" "2197" "0" "2198" "0" "c.2197_2198del" "r.(?)" "p.(Ser733Ilefs*4)" "14" "0000094573" "00017082" "90" "2287" "0" "2287" "0" "c.2287del" "r.(?)" "p.(Val763Serfs*9)" "15" "0000094574" "00017082" "90" "2308" "0" "2308" "0" "c.2308del" "r.(?)" "p.(Arg770Glufs*2)" "15" "0000094575" "00017082" "90" "2316" "0" "2319" "0" "c.2316_2319del" "r.(?)" "p.(Asp773Glyfs*32)" "15" "0000094576" "00017082" "90" "2395" "0" "2395" "0" "c.2395del" "r.(?)" "p.(Ser799Leufs*7)" "15" "0000094577" "00017082" "90" "2405" "0" "2405" "0" "c.2405del" "r.(?)" "p.(Asn802Thrfs*4)" "15" "0000094578" "00017082" "90" "2438" "0" "2438" "0" "c.2438del" "r.(?)" "p.(Pro813Argfs*17)" "15" "0000094579" "00017082" "90" "2444" "0" "2454" "0" "c.2444_2454del" "r.(?)" "p.(Ile815Thrfs*10)" "15" "0000094580" "00017082" "90" "2444" "0" "2461" "0" "c.2444_2461del" "r.(?)" "p.(Ile815_Asp821delinsAsn)" "15" "0000094581" "00017082" "90" "2448" "0" "2450" "0" "c.2448_2450del" "r.(?)" "p.(Gln816del)" "15" "0000094582" "00017082" "90" "2573" "0" "2573" "0" "c.2573del" "r.(?)" "p.(Ala858Aspfs*45)" "16" "0000094583" "00017082" "90" "2577" "0" "2583" "0" "c.2577_2583del" "r.(?)" "p.(Phe859Leufs*42)" "16" "0000094584" "00017082" "90" "2582" "0" "2582" "0" "c.2582del" "r.(?)" "p.(Ser861Metfs*42)" "16" "0000094585" "00017082" "90" "2586" "0" "2589" "0" "c.2586_2589del" "r.(?)" "p.(Asp862Glufs*40)" "16" "0000094586" "00017082" "90" "2595" "0" "2595" "0" "c.2595del" "r.(?)" "p.(Ile868Serfs*35)" "16" "0000094587" "00017082" "90" "2612" "0" "2615" "0" "c.2612_2615del" "r.(?)" "p.(Asn871Ilefs*31)" "16" "0000094588" "00017082" "90" "2613" "0" "2613" "0" "c.2613del" "r.(?)" "p.(Asn871Lysfs*32)" "16" "0000094589" "00017082" "90" "2719" "0" "2719" "0" "c.2719del" "r.(?)" "p.(Leu907Trpfs*17)" "17" "0000094590" "00017082" "90" "2782" "0" "2782" "0" "c.2782del" "r.(?)" "p.(Ser928Alafs*34)" "17" "0000094591" "00017082" "90" "2798" "0" "2798" "0" "c.2798del" "r.(?)" "p.(Ala933Glyfs*29)" "17" "0000094592" "00017082" "90" "2824" "0" "2824" "0" "c.2824del" "r.(?)" "p.(Arg942Glyfs*20)" "17" "0000094593" "00017082" "90" "2924" "0" "2924" "0" "c.2924del" "r.(?)" "p.(Pro975Leufs*20)" "18" "0000094594" "00017082" "90" "2993" "0" "2993" "0" "c.2993del" "r.(?)" "p.(Cys998Serfs*51)" "18" "0000094595" "00017082" "90" "3000" "0" "3005" "0" "c.3000_3005del" "r.(?)" "p.(Asn1000_Thr1002delinsLys)" "18" "0000094596" "00017082" "90" "3000" "0" "3007" "0" "c.3000_3007del" "r.(?)" "p.(Asn1000Lysfs*142)" "18" "0000094597" "00017082" "90" "3016" "0" "3016" "0" "c.3016del" "r.(?)" "p.(Leu1006Cysfs*43)" "18" "0000094598" "00017082" "90" "3030" "0" "3030" "0" "c.3030del" "r.(?)" "p.(Asn1011Thrfs*38)" "18" "0000094599" "00017082" "90" "3042" "0" "3042" "0" "c.3042del" "r.(?)" "p.(Phe1015Serfs*34)" "18" "0000094600" "00017082" "90" "3051" "0" "3052" "0" "c.3051_3052del" "r.(?)" "p.(Phe1017Leufs*127)" "18" "0000094601" "00017082" "90" "3055" "0" "3055" "0" "c.3055del" "r.(?)" "p.(Glu1019Serfs*30)" "18" "0000094602" "00017082" "90" "3181" "0" "3186" "0" "c.3181_3186del" "r.(?)" "p.(Ala1061_Leu1062del)" "19" "0000094603" "00017082" "90" "3244" "0" "3249" "0" "c.3244_3249del" "r.(?)" "p.(Pro1082_Val1083del)" "19" "0000094604" "00017082" "90" "3280" "0" "3280" "0" "c.3280del" "r.(?)" "p.(Val1094Trpfs*12)" "19" "0000094605" "00017082" "90" "3364" "0" "3365" "0" "c.3364_3365del" "r.(?)" "p.(Met1122Valfs*22)" "20" "0000094606" "00017082" "90" "3364" "0" "3373" "0" "c.3364_3373del" "r.(?)" "p.(Met1122Profs*14)" "20" "0000094607" "00017082" "90" "3371" "0" "3371" "0" "c.3371del" "r.(?)" "p.(Ala1124Aspfs*15)" "20" "0000094608" "00017082" "90" "3375" "0" "3375" "0" "c.3375del" "r.(?)" "p.(Val1126Serfs*13)" "20" "0000094609" "00017082" "90" "3475" "0" "3475" "0" "c.3475del" "r.(?)" "p.(Leu1159Serfs*32)" "21" "0000094610" "00017082" "90" "3531" "0" "3534" "0" "c.3531_3534del" "r.(?)" "p.(Phe1177Leufs*13)" "21" "0000094611" "00017082" "90" "3550" "0" "3550" "0" "c.3550del" "r.(?)" "p.(Val1184Cysfs*7)" "22" "0000094612" "00017082" "90" "280" "0" "280" "0" "c.280dup" "r.(?)" "p.(Ile94Asnfs*46)" "2" "0000094613" "00017082" "90" "282" "0" "282" "0" "c.282dup" "r.(?)" "p.(Gln95Serfs*45)" "2" "0000094614" "00017082" "90" "290" "0" "290" "0" "c.290dup" "r.(?)" "p.(Asn97Lysfs*43)" "2" "0000094615" "00017082" "90" "323" "0" "324" "0" "c.323_324insGA" "r.(?)" "p.(Ile108Metfs*10)" "2" "0000094616" "00017082" "90" "426" "0" "426" "0" "c.426dup" "r.(?)" "p.(Thr143Tyrfs*12)" "3" "0000094617" "00017082" "90" "478" "0" "479" "0" "c.478_479dup" "r.(?)" "p.(Gln160Hisfs*12)" "3" "0000094618" "00017082" "90" "705" "0" "705" "0" "c.705dup" "r.(?)" "p.(Trp236Leufs*16)" "5" "0000094619" "00017082" "90" "817" "0" "817" "0" "c.817dup" "r.(?)" "p.(Tyr273Leufs*12)" "6" "0000094620" "00017082" "90" "865" "0" "865" "0" "c.865dup" "r.(?)" "p.(His289Profs*30)" "6" "0000094621" "00017082" "90" "919" "0" "919" "0" "c.919dup" "r.(?)" "p.(Thr307Asnfs*12)" "6" "0000094622" "00017082" "90" "935" "0" "935" "0" "c.935dup" "r.(?)" "p.(Asn312Lysfs*7)" "6" "0000094623" "00017082" "90" "955" "0" "955" "0" "c.955dup" "r.(?)" "p.(Met319Asnfs*118)" "7" "0000094624" "00017082" "90" "1028" "0" "1029" "0" "c.1028_1029dup" "r.(?)" "p.(Gly344Trpfs*24)" "7" "0000094625" "00017082" "90" "1043" "0" "1046" "0" "c.1043_1046dup" "r.(?)" "p.(Asn349Lysfs*89)" "7" "0000094626" "00017082" "90" "1100" "0" "1108" "0" "c.1100_1108dup" "r.(?)" "p.(Met367_Pro369dup)" "8" "0000094627" "00017082" "90" "1144" "0" "1144" "0" "c.1144dup" "r.(?)" "p.(Val382Glyfs*55)" "8" "0000094628" "00017082" "90" "1207" "0" "1207" "0" "c.1207dup" "r.(?)" "p.(Tyr403Leufs*34)" "8" "0000094629" "00017082" "90" "1261" "0" "1261" "0" "c.1261dup" "r.(?)" "p.(Ser421Phefs*16)" "9" "0000094630" "00017082" "90" "1338" "0" "1339" "0" "c.1338_1339insGCG" "r.(?)" "p.(Tyr446_Leu447insAla)" "9" "0000094631" "00017082" "90" "1349" "0" "1349" "0" "c.1349dup" "r.(?)" "p.(Ala451Argfs*46)" "10" "0000094632" "00017082" "90" "1370" "0" "1370" "0" "c.1370dup" "r.(?)" "p.(Met457Ilefs*40)" "10" "0000094633" "00017082" "90" "1416" "0" "1419" "0" "c.1416_1419dup" "r.(?)" "p.(Val474Trpfs*24)" "10" "0000094634" "00017082" "90" "1462" "0" "1463" "0" "c.1462_1463dup" "r.(?)" "p.(Ser489Alafs*3)" "10" "0000094635" "00017082" "90" "1467" "0" "1467" "0" "c.1467dup" "r.(?)" "p.(Leu490Ilefs*7)" "10" "0000094636" "00017082" "90" "1509" "0" "1516" "0" "c.1509_1516dup" "r.(?)" "p.(Leu506Argfs*39)" "11" "0000094637" "00017082" "90" "1651" "0" "1651" "0" "c.1651dup" "r.(?)" "p.(Thr551Asnfs*76)" "12" "0000094638" "00017082" "90" "1723" "0" "1723" "0" "c.1723dup" "r.(?)" "p.(Leu575Profs*52)" "12" "0000094639" "00017082" "90" "1733" "0" "1741" "0" "c.1733_1741dup" "r.(?)" "p.(Ala578_Val580dup)" "13" "0000094640" "00017082" "90" "1776" "0" "1776" "0" "c.1776dup" "r.(?)" "p.(Pro593Serfs*34)" "13" "0000094641" "00017082" "90" "1925" "0" "1925" "0" "c.1925dup" "r.(?)" "p.(Pro643Thrfs*11)" "14" "0000094642" "00017082" "90" "2011" "0" "2011" "0" "c.2011dup" "r.(?)" "p.(His671Profs*10)" "14" "0000094643" "00017082" "90" "2014" "0" "2015" "0" "c.2014_2015dup" "r.(?)" "p.(His673Argfs*21)" "14" "0000094644" "00017082" "90" "2057" "0" "2058" "0" "c.2057_2058dup" "r.(?)" "p.(Val687Leufs*7)" "14" "0000094645" "00017082" "90" "2178" "0" "2178" "0" "c.2178dup" "r.(?)" "p.(Cys727Leufs*11)" "14" "0000094646" "00017082" "90" "2256" "0" "2262" "0" "c.2256_2262dup" "r.(?)" "p.(Phe755Glyfs*37)" "15" "0000094647" "00017082" "90" "2279" "0" "2279" "0" "c.2279dup" "r.(?)" "p.(Leu760Phefs*30)" "15" "0000094648" "00017082" "90" "2332" "0" "2332" "0" "c.2332dup" "r.(?)" "p.(Thr778Asnfs*12)" "15" "0000094649" "00017082" "90" "2391" "0" "2391" "0" "c.2391dup" "r.(?)" "p.(Phe798Leufs*31)" "15" "0000094650" "00017082" "90" "2438" "0" "2446" "0" "c.2438_2446dup" "r.(?)" "p.(Pro813_Ile815dup)" "15" "0000094651" "00017082" "90" "2454" "0" "2454" "0" "c.2454dup" "r.(?)" "p.(Leu819Thrfs*10)" "15" "0000094652" "00017082" "90" "2464" "0" "2464" "0" "c.2464dup" "r.(?)" "p.(Leu822Profs*7)" "15" "0000094653" "00017082" "90" "2535" "0" "2536" "0" "c.2535_2536dup" "r.(?)" "p.(His846Argfs*58)" "15" "0000094654" "00017082" "90" "2712" "0" "2712" "0" "c.2712dup" "r.(?)" "p.(Gln905Thrfs*11)" "17" "0000094655" "00017082" "90" "2724" "0" "2725" "0" "c.2724_2725insT" "r.(?)" "p.(Asp909*)" "17" "0000094656" "00017082" "90" "2736" "0" "2742" "0" "c.2736_2742dup" "r.(?)" "p.(Asn915Hisfs*3)" "17" "0000094657" "00017082" "90" "2760" "0" "2760" "0" "c.2760dup" "r.(?)" "p.(Ile921Hisfs*38)" "17" "0000094658" "00017082" "90" "2761" "0" "2767" "0" "c.2761_2767dup" "r.(?)" "p.(Leu923Hisfs*38)" "17" "0000094659" "00017082" "90" "2796" "0" "2800" "0" "c.2796_2800dup" "r.(?)" "p.(Tyr934Serfs*30)" "17" "0000094660" "00017082" "90" "2918" "0" "2925" "0" "c.2918_2925dup" "r.(?)" "p.(Phe976Serfs*22)" "18" "0000094661" "00017082" "90" "2960" "0" "2961" "0" "c.2960_2961dup" "r.(?)" "p.(Val988Leufs*8)" "18" "0000094662" "00017082" "90" "3025" "0" "3025" "0" "c.3025dup" "r.(?)" "p.(Tyr1009Leufs*136)" "18" "0000094663" "00017082" "90" "3026" "0" "3026" "0" "c.3026dup" "r.(?)" "p.(Tyr1009*)" "18" "0000094664" "00017082" "90" "3104" "0" "3104" "0" "c.3104dup" "r.(?)" "p.(Leu1036Valfs*109)" "18" "0000094665" "00017082" "90" "3130" "0" "3131" "0" "c.3130_3131dup" "r.(?)" "p.(Val1045Leufs*5)" "18" "0000094666" "00017082" "90" "3244" "0" "3246" "0" "c.3244_3246dup" "r.(?)" "p.(Pro1082dup)" "19" "0000094667" "00017082" "90" "3249" "0" "3251" "0" "c.3249_3251dup" "r.(?)" "p.(Val1084dup)" "19" "0000094668" "00017082" "90" "3326" "0" "3326" "0" "c.3326dup" "r.(?)" "p.(Asp1110Argfs*35)" "20" "0000094669" "00017082" "90" "3325" "0" "3328" "0" "c.3325_3328dup" "r.(?)" "p.(Asp1110Glyfs*36)" "20" "0000094670" "00017082" "90" "260" "0" "264" "0" "c.260_264delinsAA" "r.(?)" 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"p.(Tyr1181Profs*10)" "21" "0000094680" "00017082" "90" "2561" "-1" "7755" "0" "c.(2560+1_2561-1)_(*3411_?)del" "r.?" "p.(?)" "15i_24_" "0000094681" "00017082" "90" "-188" "0" "7755" "0" "c.(?_-188)_(*3411_?)del" "r.0?" "p.0?" "_1_24_" "0000094682" "00017082" "90" "1729" "-1" "2560" "1" "c.(1728+1_1729-1)_(2560+1_2561-1)del" "r.?" "p.(?)" "12i_16i" "0000094683" "00017082" "90" "3169" "-1" "3804" "1" "c.(3168+1_3169-1)_(3804+1_3805-1)del" "r.?" "p.(?)" "18i_22i" "0000094684" "00017082" "90" "3440" "-1" "7755" "0" "c.(3439+1_3440-1)_(*3411_?)del" "r.?" "p.(?)" "20i_24_" "0000094685" "00017082" "90" "-188" "0" "7755" "0" "c.(?_-188)_(*3411_?)del" "r.0?" "p.0?" "_1_24_" "0000094686" "00017082" "90" "0" "0" "0" "0" "c.?" "r.?" "p.(?)" "_1" "0000094687" "00017082" "90" "-188" "0" "7755" "0" "c.(?_-188)_(*3411_?)del" "r.0?" "p.0?" "_1_24_" "0000094688" "00017082" "90" "-188" "0" "7755" "0" "c.(?_-188)_(*3411_?)del" "r.0?" "p.0?" 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"_1_24_" "0000094708" "00017082" "90" "1139" "0" "1196" "0" "c.1139_1196dup" "r.(?)" "p.(Trp399*)" "8" "0000094709" "00017082" "90" "2608" "0" "8388607" "0" "c.2608_?delins?" "r.?" "p.?" "16" "0000094710" "00017082" "90" "2785" "0" "2806" "0" "c.2785_2806delinsTGTGAAATT" "r.(?)" "p.(Asn929Cysfs*29)" "17" "0000094711" "00017082" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000094712" "00017082" "50" "-6" "0" "-4" "0" "c.-6_-4dup" "r.(?)" "p.(=)" "1" "0000094713" "00017082" "30" "2704" "-3" "2704" "-3" "c.2704-3T>C" "r.(?)" "p.(=)" "16i" "0000129983" "00017082" "70" "2834" "0" "2834" "0" "c.2834delinsCGGGTCCACAACATC" "r.(?)" "p.(Arg945Profs*22)" "17" "0000132353" "00017082" "90" "2380" "0" "2380" "0" "c.2380C>T" "r.(?)" "p.(Gln794*)" "15" "0000139878" "00017082" "99" "-188" "0" "394" "1" "c.(?_-188)_(394+1_395-1)del" "r.(?)" "p.?" "_1_2i" "0000139879" "00017082" "77" "0" "0" "0" "0" "c.(394+1_395-1)_(1728+1_1729-1)(2)" "r.(?)" "p.?" "2i_12i" "0000139880" "00017082" "99" "1040" "0" "1049" "0" "c.1040_1049del" "r.(?)" "p.(Val347Alafs*17)" "7" "0000139881" "00017082" "99" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Gln361*)" "8" "0000139882" "00017082" "99" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Gln365*)" "8" "0000139883" "00017082" "99" "1114" "0" "1114" "0" "c.1114del" "r.(?)" "p.(Met372Cysfs*60)" "8" "0000139884" "00017082" "99" "1119" "0" "1119" "0" "c.1119C>G" "r.(?)" "p.(Tyr373*)" "8" "0000139885" "00017082" "99" "114" "0" "114" "0" "c.114del" "r.(?)" "p.(Leu39Cysfs*41)" "1" "0000139886" "00017082" "99" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Gln400*)" "8" "0000139887" "00017082" "77" "1216" "-2" "1216" "-2" "c.1216-2A>G" "r.spl" "p.?" "8i" "0000139888" "00017082" "99" "1279" "0" "1279" "0" "c.1279del" "r.(?)" "p.(Leu427Trpfs*5)" "9" "0000139889" "00017082" "77" "1347" "1" "1347" "1" "c.1347+1G>A" "r.spl" "p.?" "9i" "0000139890" "00017082" "77" "1348" "0" "1350" "0" "c.1348_1350del" "r.(?)" "p.(Leu450del)" "10" "0000139891" "00017082" "77" "1348" "-1" "1348" "-1" "c.1348-1G>C" "r.spl?" "p.?" "9i" "0000139892" "00017082" "99" "1366" "0" "1366" "0" "c.1366dup" "r.(?)" "p.(Thr456Asnfs*41)" "10" "0000139893" "00017082" "99" "1379" "0" "1379" "0" "c.1379G>A" "r.(?)" "p.(Trp460*)" "10" "0000139894" "00017082" "99" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(Trp460*)" "10" "0000139895" "00017082" "77" "1415" "0" "1429" "0" "c.1415_1429del" "r.(?)" "p.(Ala472_Leu476del)" "10" "0000139896" "00017082" "77" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Ser480Leu)" "10" "0000139897" "00017082" "77" "1450" "0" "1450" "0" "c.1450G>A" "r.(?)" "p.(Gly484Arg)" "10" "0000139898" "00017082" "77" "1504" "-1" "1504" "-1" "c.1504-1G>C" "r.spl?" "p.?" "10i" "0000139899" "00017082" "77" "1504" "-2" "1504" "-2" "c.1504-2A>T" "r.spl" "p.?" "10i" "0000139900" "00017082" "99" "1508" "0" "1508" "0" "c.1508dup" "r.(?)" "p.(Leu503Phefs*12)" "11" "0000139901" "00017082" "99" "1526" "0" "1526" "0" "c.1526G>A" "r.(?)" "p.(Gly509Asp)" "11" "0000139902" "00017082" "77" "1555" "0" "1555" "0" "c.1555G>C" "r.(?)" "p.(Ala519Pro)" "11" "0000139903" "00017082" "33" "1067" "5" "1067" "5" "c.1067+5G>C" "r.spl?" "p.?" "7i" "0000139904" "00017082" "99" "1691" "0" "1691" "0" "c.1691T>G" "r.(?)" "p.(Leu564*)" "12" "0000139905" "00017082" "77" "1712" "0" "1712" "0" "c.1712G>C" "r.(?)" "p.(Arg571Pro)" "12" "0000139906" "00017082" "99" "1729" "-1" "1729" "-1" "c.1729-1G>C" "r.spl?" "p.?" "12i" "0000139907" "00017082" "77" "1767" "0" "1769" "0" "c.1767_1769del" "r.(?)" "p.(Leu590del)" "13" "0000139908" "00017082" "33" "1792" "0" "1792" "0" "c.1792A>T" "r.(?)" "p.(Met598Leu)" "14" "0000139909" "00017082" "99" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602*)" "13" "0000139910" "00017082" "99" "1810" "0" "1810" "0" "c.1810G>T" "r.(?)" "p.(Glu604*)" "13" "0000139911" "00017082" "99" "1852" "0" "1852" "0" "c.1852del" "r.(?)" "p.(Cys618Alafs*5)" "14" "0000139912" "00017082" "99" "1925" "0" "1925" "0" "c.1925dup" "r.(?)" "p.(Pro643Thrfs*11)" "14" "0000139913" "00017082" "99" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(Gln659*)" "14" "0000139914" "00017082" "99" "2011" "0" "2011" "0" "c.2011dup" "r.(?)" "p.(His671Profs*10)" "14" "0000139915" "00017082" "77" "202" "-2" "202" "-2" "c.202-2A>G" "r.spl?" "p.?" "1i" "0000139916" "00017082" "99" "205" "0" "205" "0" "c.205A>T" "r.(?)" "p.(Lys69*)" "2" "0000139917" "00017082" "99" "2098" "0" "2098" "0" "c.2098C>T" "r.(?)" "p.(Gln700*)" "14" "0000139918" "00017082" "99" "2170" "0" "2170" "0" "c.2170G>T" "r.(?)" "p.(Glu724*)" "14" "0000139919" "00017082" "33" "2173" "0" "2173" "0" "c.2173C>T" "r.(?)" "p.(Pro725Ser)" "14" "0000139920" "00017082" "99" "2178" "0" "2179" "0" "c.2178_2179insA" "r.(?)" "p.(Cys727Metfs*11)" "14" "0000139921" "00017082" "99" "2179" "0" "2179" "0" "c.2179del" "r.(?)" "p.(Cys727Valfs*19)" "14" "0000139922" "00017082" "77" "2250" "1" "2250" "1" "c.2250+1G>T" "r.spl" "p.?" "14i" "0000139923" "00017082" "77" "2250" "0" "2250" "0" "c.2250G>C" "r.spl?" "p.(Lys750Asn)" "14" "0000139924" "00017082" "77" "2251" "-2" "2251" "-2" "c.2251-2A>G" "r.spl" "p.?" "14i" "0000139925" "00017082" "99" "2308" "0" "2308" "0" "c.2308C>T" "r.(?)" "p.(Arg770*)" "15" "0000139926" "00017082" "99" "2359" "0" "2359" "0" "c.2359G>T" "r.(?)" "p.(Glu787*)" "15" "0000139927" "00017082" "77" "2414" "0" "2414" "0" "c.2414T>G" "r.(?)" "p.(Ile805Arg)" "15" "0000139928" "00017082" "99" "2446" "0" "2446" "0" "c.2446C>T" "r.(?)" "p.(Gln816*)" "15" "0000139929" "00017082" "77" "2447" "0" "2447" "0" "c.2447A>G" "r.(?)" "p.(Gln816Arg)" "15" "0000139930" "00017082" "99" "254" "0" "255" "0" "c.254_255del" "r.(?)" "p.(Arg85Thrfs*4)" "2" "0000139931" "00017082" "99" "2557" "0" "2557" "0" "c.2557C>T" "r.(?)" "p.(Gln853*)" "15" "0000139932" "00017082" "99" "2704" "-1" "3306" "1" "c.(2703+1_2704-1)_(3306+1_3307-1)del" "r.(?)" "p.?" "16i_19i" "0000139933" "00017082" "77" "2561" "-2" "2561" "-2" "c.2561-2A>G" "r.spl" "p.?" "15i" "0000139934" "00017082" "99" "258" "0" "259" "0" "c.258_259del" "r.(?)" "p.(Leu87Ilefs*2)" "2" "0000139935" "00017082" "99" "2612" "0" "2615" "0" "c.2612_2615del" "r.(?)" "p.(Asn871Ilefs*31)" "16" "0000139936" "00017082" "99" "2619" "0" "2619" "0" "c.2619C>A" "r.(?)" "p.(Tyr873*)" "16" "0000139937" "00017082" "99" "2619" "0" "2619" "0" "c.2619C>G" "r.(?)" "p.(Tyr873*)" "16" "0000139938" "00017082" "99" "262" "0" "266" "0" "c.262_266del" "r.(?)" "p.(Phe88Thrfs*50)" "2" "0000139939" "00017082" "99" "2748" "0" "2748" "0" "c.2748del" "r.(?)" "p.(Ser917Alafs*7)" "17" "0000139940" "00017082" "99" "2793" "0" "2793" "0" "c.2793del" "r.(?)" "p.(Val932Serfs*30)" "17" "0000139941" "00017082" "99" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Tyr93*)" "2" "0000139942" "00017082" "99" "2833" "0" "2843" "0" "c.2833_2843del" "r.(?)" "p.(Arg945Glyfs*10)" "17" "0000139943" "00017082" "77" "2917" "0" "2917" "0" "c.2917C>A" "r.(?)" "p.(Gln973Lys)" "18" "0000139944" "00017082" "99" "294" "0" "294" "0" "c.294C>A" "r.(?)" "p.(Cys98*)" "2" "0000139945" "00017082" "99" "3027" "0" "3027" "0" "c.3027C>A" "r.(?)" "p.(Tyr1009*)" "18" "0000139946" "00017082" "99" "3027" "0" "3027" "0" "c.3027C>G" "r.(?)" "p.(Tyr1009*)" "18" "0000139947" "00017082" "99" "3050" "0" "3050" "0" "c.3050del" "r.(?)" "p.(Phe1017Serfs*32)" "18" "0000139948" "00017082" "99" "3056" "0" "3059" "0" "c.3056_3059del" "r.(?)" "p.(Glu1019Glyfs*29)" "18" "0000139949" "00017082" "99" "3058" "0" "3058" "0" "c.3058C>T" "r.(?)" "p.(Gln1020*)" "18" "0000139950" "00017082" "99" "3107" "0" "3108" "0" "c.3107_3108del" "r.(?)" "p.(Leu1036Cysfs*108)" "18" "0000139951" "00017082" "99" "3135" "0" "3135" "0" "c.3135del" "r.(?)" "p.(Phe1046Serfs*3)" "18" "0000139952" "00017082" "99" "3139" "0" "3142" "0" "c.3139_3142del" "r.(?)" "p.(Leu1047*)" "18" "0000139953" "00017082" "99" "3139" "0" "3139" "0" "c.3139del" "r.(?)" "p.(Leu1047Phefs*2)" "18" "0000139954" "00017082" "99" "3150" "0" "3150" "0" "c.3150del" "r.(?)" "p.(Trp1051Glyfs*7)" "18" "0000139955" "00017082" "33" "3155" "0" "3155" "0" "c.3155C>T" "r.(?)" "p.(Thr1052Met)" "18" "0000139956" "00017082" "99" "3233" "0" "3239" "0" "c.3233_3239del" "r.(?)" "p.(Leu1078Profs*7)" "19" "0000139957" "00017082" "99" "3251" "0" "3272" "0" "c.3251_3272del" "r.(?)" "p.(Val1084Alafs*2)" "19" "0000139958" "00017082" "99" "3364" "0" "3365" "0" "c.3364_3365del" "r.(?)" "p.(Met1122Valfs*22)" "20" "0000139959" "00017082" "99" "3375" "0" "3375" "0" "c.3375del" "r.(?)" "p.(Val1126Serfs*13)" "20" "0000139960" "00017082" "33" "3487" "0" "3487" "0" "c.3487G>A" "r.(?)" "p.(Gly1163Ser)" "21" "0000139961" "00017082" "99" "3497" "0" "3497" "0" "c.3497dup" "r.(?)" "p.(Asn1166Lysfs*18)" "21" "0000139962" "00017082" "99" "3525" "0" "3526" "0" "c.3525_3526del" "r.(?)" "p.(Leu1175Phefs*8)" "21" "0000139963" "00017082" "99" "385" "0" "386" "0" "c.385_386dup" "r.(?)" "p.(Trp129Cysfs*9)" "2" "0000139964" "00017082" "77" "394" "1" "394" "1" "c.394+1G>A" "r.spl" "p.?" "2i" "0000139965" "00017082" "77" "394" "1" "394" "1" "c.394+1G>C" "r.spl?" "p.?" "2i" "0000139966" "00017082" "77" "0" "0" "0" "0" "c.(394+1_395-1)_(2703+1_2704-1)(2)" "r.(?)" "p.(?)" "2i_16i" "0000139967" "00017082" "99" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135*)" "3" "0000139968" "00017082" "99" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Gln156*)" "3" "0000139969" "00017082" "99" "479" "0" "482" "0" "c.479_482del" "r.(?)" "p.(Gln160Profs*10)" "3" "0000139970" "00017082" "77" "566" "0" "584" "8" "c.566_584+8del" "r.spl" "p.?" "4i" "0000139971" "00017082" "99" "572" "0" "575" "0" "c.572_575dup" "r.(?)" "p.(Met192Ilefs*61)" "3" "0000139972" "00017082" "99" "591" "0" "591" "0" "c.591G>C" "r.(?)" "p.(Trp197Cys)" "4" "0000139973" "00017082" "77" "655" "-1" "655" "-1" "c.655-1G>A" "r.spl" "p.?" "4i" "0000139974" "00017082" "77" "689" "0" "689" "0" "c.689C>G" "r.(?)" "p.(Thr230Arg)" "5" "0000139975" "00017082" "99" "707" "0" "707" "0" "c.707G>A" "r.(?)" "p.(Trp236*)" "5" "0000139976" "00017082" "99" "724" "0" "724" "0" "c.724del" "r.(?)" "p.(Gln242Serfs*8)" "5" "0000139977" "00017082" "77" "747" "-2" "747" "-2" "c.747-2A>G" "r.spl" "p.?" "5i" "0000139978" "00017082" "99" "770" "0" "771" "0" "c.770_771delinsGGTTTGG" "r.(?)" "p.(Thr257Argfs*14)" "6" "0000139979" "00017082" "99" "842" "0" "842" "0" "c.842del" "r.(?)" "p.(Met281Serfs*2)" "6" "0000139980" "00017082" "77" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Leu297Pro)" "6" "0000139981" "00017082" "77" "946" "-1" "946" "-1" "c.946-1G>T" "r.spl" "p.?" "6i" "0000139982" "00017082" "99" "-188" "0" "7755" "0" "c.(?_-188)_(*3411_?)del" "r.0?" "p.0?" "_1_24_" "0000139983" "00017082" "99" "2251" "-1" "2703" "1" "c.(2250+1_2251-1)_(2703+1_2704-1)del" "r.(?)" "p.(Val751_Gln901del)" "14i_16i" "0000139984" "00017082" "99" "394" "-1" "7755" "0" "c.(393+1_394-1)_(*3411_?)del" "r.(?)" "p.?" "2i_24_" "0000148344" "00017082" "90" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Gln365*)" "8" "0000148350" "00017082" "90" "2011" "0" "2011" "0" "c.2011dup" "r.(?)" "p.(His671Profs*10)" "14" "0000148351" "00017082" "90" "2057" "0" "2058" "0" "c.2057_2058dup" "r.(?)" "p.(Val687Leufs*7)" "14" "0000148407" "00017082" "90" "1160" "0" "1160" "0" "c.1160G>A" "r.(?)" "p.(Trp387*)" "8" "0000148416" "00017082" "90" "258" "0" "259" "0" "c.258_259del" "r.(?)" "p.(Leu87Ilefs*2)" "2" "0000148421" "00017082" "90" "258" "0" "259" "0" "c.258_259del" "r.(?)" "p.(Leu87Ilefs*2)" "2" "0000148425" "00017082" "90" "816" "0" "852" "0" "c.816_852del" "r.(?)" "p.(Asn272Lysfs*40)" "6" "0000148534" "00017082" "90" "2595" "0" "2595" "0" "c.2595del" "r.(?)" "p.(Ile868Serfs*35)" "16" "0000148535" "00017082" "90" "2608" "0" "2608" "0" "c.2608delins?" "r.(?)" "p.(?)" "16" "0000148538" "00017082" "70" "-8456" "0" "-8456" "0" "c.-8456delG" "-" "-" "_1" "0000149240" "00017082" "00" "3191" "0" "3191" "0" "c.3191C>T" "r.(?)" "p.(Thr1064Met)" "19" "0000149241" "00017082" "70" "3241" "0" "3241" "0" "c.3241G>A" "r.(?)" "p.(Val1081Met)" "19" "0000149569" "00017082" "70" "3889" "0" "3889" "0" "c.3889C>T" "r.(?)" "p.(Arg1297Trp)" "23" "0000149570" "00017082" "70" "3947" "0" "3947" "0" "c.3947A>G" "r.(?)" "p.(Tyr1316Cys)" "23" "0000149571" "00017082" "70" "2332" "0" "2332" "0" "c.2332A>C" "r.(?)" "p.(Thr778Pro)" "15" "0000149572" "00017082" "70" "2695" "0" "2695" "0" "c.2695A>G" "r.(?)" "p.(Ile899Val)" "16" "0000154419" "00017082" "90" "1348" "-1" "1348" "-1" "c.1348-1G>C" "r.spl?" "p.?" "9i" "0000163019" "00017082" "99" "1526" "0" "1526" "0" "c.1526G>A" "r.(?)" "p.(Gly509Asp)" "11" "0000163020" "00017082" "99" "1526" "0" "1526" "0" "c.1526G>A" "r.(?)" "p.(Gly509Asp)" "11" "0000163021" "00017082" "99" "258" "0" "259" "0" "c.258_259del" "r.(?)" "p.(Leu87Ilefs*2)" "2" "0000163022" "00017082" "99" "-188" "0" "7755" "0" "c.(?_-188)_(*3411_?)del" "r.0?" "p.0?" "_1_24_" "0000163104" "00017082" "99" "-188" "0" "7755" "0" "c.(?_-188)_(*3411_?)del" "r.0?" "p.0?" "_1_24_" "0000163105" "00017082" "99" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135*)" "3" "0000163106" "00017082" "99" "3364" "0" "3365" "0" "c.3364_3365del" "r.(?)" "p.(Met1122Valfs*22)" "20" "0000163107" "00017082" "99" "2619" "0" "2619" "0" "c.2619C>A" "r.(?)" "p.(Tyr873*)" "16" "0000163108" "00017082" "33" "3155" "0" "3155" "0" "c.3155C>T" "r.(?)" "p.(Thr1052Met)" "18" "0000163109" "00017082" "33" "3155" "0" "3155" "0" "c.3155C>T" "r.(?)" "p.(Thr1052Met)" "18" "0000163586" "00017082" "50" "3275" "0" "3275" "0" "c.3275T>A" "r.(?)" "p.(Ile1092Lys)" "19" "0000164276" "00017082" "57" "3275" "0" "3275" "0" "c.3275T>A" "r.(?)" "p.(Ile1092Lys)" "19" "0000221907" "00017082" "50" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Glu)" "1" "0000249550" "00017082" "30" "1729" "-11" "1729" "-11" "c.1729-11del" "r.(=)" "p.(=)" "" "0000249905" "00017082" "10" "2913" "0" "2913" "0" "c.2913T>C" "r.(?)" "p.(Tyr971=)" "" "0000251027" "00017082" "10" "1665" "0" "1665" "0" "c.1665T>C" "r.(?)" "p.(Asn555=)" "" "0000253129" "00017082" "10" "2913" "0" "2913" "0" "c.2913T>C" "r.(?)" "p.(Tyr971=)" "" "0000297460" "00017082" "30" "1216" "-6" "1216" "-6" "c.1216-6C>A" "r.(=)" "p.(=)" "" "0000297461" "00017082" "30" "1602" "15" "1602" "17" "c.1602+15_1602+17del" "r.(=)" "p.(=)" "" "0000297462" "00017082" "10" "1686" "0" "1686" "0" "c.1686C>T" "r.(?)" "p.(Ala562=)" "" "0000297463" "00017082" "30" "2004" "0" "2004" "0" "c.2004C>T" "r.(?)" "p.(Tyr668=)" "" "0000297464" "00017082" "10" "2560" "9" "2560" "9" "c.2560+9G>C" "r.(=)" "p.(=)" "" "0000297465" "00017082" "30" "3155" "0" "3155" "0" "c.3155C>T" "r.(?)" "p.(Thr1052Met)" "" "0000297466" "00017082" "50" "3556" "0" "3556" "0" "c.3556C>G" "r.(?)" "p.(Pro1186Ala)" "" "0000297467" "00017082" "70" "3805" "-2" "3805" "-2" "c.3805-2A>G" "r.spl?" "p.?" "" "0000297468" "00017082" "30" "3919" "0" "3919" "0" "c.3919C>T" "r.(?)" "p.(Pro1307Ser)" "" "0000297469" "00017082" "10" "3944" "0" "3944" "0" "c.3944C>T" "r.(?)" "p.(Pro1315Leu)" "" "0000297470" "00017082" "30" "3954" "0" "3954" "0" "c.3954G>A" "r.(?)" "p.(Pro1318=)" "" "0000297471" "00017082" "30" "4128" "0" "4128" "0" "c.4128C>T" "r.(?)" "p.(Ser1376=)" "" "0000297472" "00017082" "50" "4181" "0" "4181" "0" "c.4181G>A" "r.(?)" "p.(Arg1394Gln)" "" "0000297473" "00017082" "30" "4185" "0" "4185" "0" "c.4185G>A" "r.(?)" "p.(Gly1395=)" "" "0000297474" "00017082" "90" "244" "0" "245" "0" "c.244_245del" "r.(?)" "p.(Lys82ValfsTer7)" "" "0000297475" "00017082" "30" "897" "0" "897" "0" "c.897G>A" "r.(?)" "p.(Pro299=)" "" "0000297476" "00017082" "30" "945" "20" "945" "20" "c.945+20G>A" "r.(=)" "p.(=)" "" "0000299168" "00017082" "10" "109" "0" "109" "0" "c.109G>C" "r.(?)" "p.(Gly37Arg)" "" "0000299169" "00017082" "30" "1247" "0" "1247" "0" "c.1247C>G" "r.(?)" "p.(Thr416Ser)" "" "0000299170" "00017082" "30" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.(Asp436=)" "" "0000299171" "00017082" "30" "1602" "15" "1602" "17" "c.1602+15_1602+17del" "r.(=)" "p.(=)" "" "0000299172" "00017082" "10" "1641" "0" "1641" "0" "c.1641C>T" "r.(?)" "p.(Ser547=)" "" "0000299173" "00017082" "10" "1854" "0" "1854" "0" "c.1854C>T" "r.(?)" "p.(Cys618=)" "" "0000299174" "00017082" "30" "2126" "0" "2126" "0" "c.2126G>A" "r.(?)" "p.(Arg709Lys)" "" "0000299175" "00017082" "30" "2173" "0" "2173" "0" "c.2173C>T" "r.(?)" "p.(Pro725Ser)" "" "0000299176" "00017082" "10" "2199" "0" "2199" "0" "c.2199A>G" "r.(?)" "p.(Ser733=)" "" "0000299177" "00017082" "30" "2222" "0" "2222" "0" "c.2222C>T" "r.(?)" "p.(Ala741Val)" "" "0000299178" "00017082" "50" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Val829Met)" "" "0000299179" "00017082" "30" "2787" "0" "2787" "0" "c.2787C>T" "r.(?)" "p.(Asn929=)" "" "0000299180" "00017082" "30" "2850" "0" "2850" "0" "c.2850C>T" "r.(?)" "p.(His950=)" "" "0000299181" "00017082" "30" "2888" "-8" "2888" "-8" "c.2888-8C>T" "r.(=)" "p.(=)" "" "0000299182" "00017082" "30" "3155" "0" "3155" "0" "c.3155C>T" "r.(?)" "p.(Thr1052Met)" "" "0000299183" "00017082" "30" "3150" "0" "3150" "0" "c.3150C>T" "r.(?)" "p.(Pro1050=)" "" "0000299184" "00017082" "10" "318" "0" "318" "0" "c.318C>T" "r.(?)" "p.(Leu106=)" "" "0000299185" "00017082" "30" "3291" "0" "3291" "0" "c.3291C>T" "r.(?)" "p.(Thr1097=)" "" "0000299186" "00017082" "10" "3387" "0" "3387" "0" "c.3387C>T" "r.(?)" "p.(Gly1129=)" "" "0000299187" "00017082" "30" "3564" "0" "3564" "0" "c.3564C>T" "r.(?)" "p.(Asn1188=)" "" "0000299188" "00017082" "10" "4128" "0" "4128" "0" "c.4128C>T" "r.(?)" "p.(Ser1376=)" "" "0000299189" "00017082" "10" "4080" "0" "4080" "0" "c.4080C>T" "r.(?)" "p.(Ser1360=)" "" "0000299190" "00017082" "30" "4325" "0" "4325" "0" "c.4325G>A" "r.(?)" "p.(Arg1442Gln)" "" "0000299191" "00017082" "10" "735" "0" "735" "0" "c.735A>G" "r.(?)" "p.(Thr245=)" "" "0000301293" "00017082" "30" "2692" "0" "2692" "0" "c.2692G>A" "r.(?)" "p.(Asp898Asn)" "" "0000301294" "00017082" "30" "3155" "0" "3155" "0" "c.3155C>T" "r.(?)" "p.(Thr1052Met)" "" "0000301295" "00017082" "10" "3583" "0" "3583" "0" "c.3583A>T" "r.(?)" "p.(Thr1195Ser)" "" "0000301296" "00017082" "30" "4141" "0" "4141" "0" "c.4141G>A" "r.(?)" "p.(Val1381Met)" "" "0000306569" "00017082" "30" "1234" "0" "1234" "0" "c.1234G>T" "r.(?)" "p.(Ala412Ser)" "" "0000306570" "00017082" "30" "113" "0" "113" "0" "c.113G>T" "r.(?)" "p.(Gly38Val)" "" "0000306572" "00017082" "30" "2173" "0" "2173" "0" "c.2173C>T" "r.(?)" "p.(Pro725Ser)" "" "0000306573" "00017082" "10" "2937" "0" "2937" "0" "c.2937C>T" "r.(?)" "p.(Asn979=)" "" "0000306574" "00017082" "30" "2787" "0" "2787" "0" "c.2787C>T" "r.(?)" "p.(Asn929=)" "" "0000306575" "00017082" "50" "3005" "0" "3005" "0" "c.3005C>T" "r.(?)" "p.(Thr1002Met)" "" "0000306576" "00017082" "10" "3845" "0" "3845" "0" "c.3845C>T" "r.(?)" "p.(Pro1282Leu)" "" "0000306577" "00017082" "30" "4025" "0" "4025" "0" "c.4025G>A" "r.(?)" "p.(Arg1342His)" "" "0000306578" "00017082" "50" "4033" "0" "4033" "0" "c.4033C>T" "r.(?)" "p.(Arg1345Cys)" "" "0000332687" "00017082" "30" "3947" "0" "3947" "0" "c.3947A>G" "r.(?)" "p.(Tyr1316Cys)" "" "0000332688" "00017082" "30" "3907" "0" "3907" "0" "c.3907C>T" "r.(?)" "p.(Arg1303Cys)" "" "0000332689" "00017082" "30" "3839" "0" "3839" "0" "c.3839C>T" "r.(?)" "p.(Ser1280Leu)" "" "0000332690" "00017082" "50" "3634" "0" "3634" "0" "c.3634G>A" "r.(?)" "p.(Gly1212Ser)" "" "0000332691" "00017082" "50" "3631" "0" "3631" "0" "c.3631C>T" "r.(?)" "p.(Pro1211Ser)" "" "0000332693" "00017082" "50" "3617" "0" "3617" "0" "c.3617G>A" "r.(?)" "p.(Arg1206His)" "" "0000332694" "00017082" "50" "3575" "0" "3575" "0" "c.3575G>T" "r.(?)" "p.(Arg1192Leu)" "" "0000332695" "00017082" "50" "3565" "0" "3565" "0" "c.3565G>A" "r.(?)" "p.(Gly1189Ser)" "" "0000332700" "00017082" "50" "2678" "0" "2678" "0" "c.2678G>A" "r.(?)" "p.(Arg893His)" "" "0000332704" "00017082" "50" "907" "0" "907" "0" "c.907G>C" "r.(?)" "p.(Asp303His)" "" "0000332707" "00017082" "50" "37" "0" "37" "0" "c.37C>G" "r.(?)" "p.(Arg13Gly)" "" "0000332708" "00017082" "30" "-8329" "0" "-8329" "0" "c.-8329A>G" "r.(?)" "p.(=)" "" "0000341897" "00017082" "70" "4180" "0" "4180" "0" "c.4180C>T" "r.(?)" "p.(Arg1394Ter)" "" "0000346951" "00017082" "70" "524" "0" "524" "0" "c.524T>C" "r.(?)" "p.(Leu175Pro)" "" "0000347637" "00017082" "90" "2236" "0" "2236" "0" "c.2236A>T" "r.(?)" "p.(Lys746Ter)" "" "0000349185" "00017082" "30" "2479" "0" "2479" "0" "c.2479A>G" "r.(?)" "p.(Ser827Gly)" "" "0000350201" "00017082" "90" "2458" "0" "2458" "0" "c.2458dup" "r.(?)" "p.(Tyr820LeufsTer9)" "" "0000368470" "00017082" "77" "2251" "-1" "2560" "1" "c.(2250+1_2251-1)_(2560+1_2561-1)del" "r.?" "p.?" "14i_15i" "0000538718" "00017082" "30" "4325" "0" "4325" "0" "c.4325G>A" "r.(?)" "p.(Arg1442Gln)" "" "0000538719" "00017082" "30" "4324" "0" "4324" "0" "c.4324C>T" "r.(?)" "p.(Arg1442Trp)" "" "0000538720" "00017082" "30" "4324" "0" "4324" "0" "c.4324C>T" "r.(?)" "p.(Arg1442Trp)" "" "0000538721" "00017082" "30" "4324" "0" "4324" "0" "c.4324C>T" "r.(?)" "p.(Arg1442Trp)" "" "0000538722" "00017082" "50" "4274" "0" "4274" "0" "c.4274C>T" "r.(?)" "p.(Ser1425Leu)" "" "0000538723" "00017082" "30" "4128" "0" "4128" "0" "c.4128C>T" "r.(?)" "p.(Ser1376=)" "" "0000538724" "00017082" "30" "4048" "0" "4048" "0" "c.4048C>T" "r.(?)" "p.(Arg1350Trp)" "" "0000538725" "00017082" "10" "3944" "0" "3944" "0" "c.3944C>T" "r.(?)" "p.(Pro1315Leu)" "" "0000538727" "00017082" "30" "3845" "0" "3845" "0" "c.3845C>T" "r.(?)" "p.(Pro1282Leu)" "" "0000538728" "00017082" "10" "3804" "32" "3804" "32" "c.3804+32T>C" "r.(=)" "p.(=)" "" "0000538729" "00017082" "50" "3734" "0" "3734" "0" "c.3734A>G" "r.(?)" "p.(Gln1245Arg)" "" "0000538730" "00017082" "30" "3617" "0" "3617" "0" "c.3617G>A" "r.(?)" "p.(Arg1206His)" "" "0000538731" "00017082" "10" "3606" "0" "3606" "0" "c.3606C>T" "r.(?)" "p.(Pro1202=)" "" "0000538732" "00017082" "10" "3583" "0" "3583" "0" "c.3583A>T" "r.(?)" "p.(Thr1195Ser)" "" "0000538733" "00017082" "10" "3567" "0" "3567" "0" "c.3567C>T" "r.(?)" "p.(Gly1189=)" "" "0000538734" "00017082" "10" "3567" "0" "3567" "0" "c.3567C>T" "r.(?)" "p.(Gly1189=)" "" "0000538735" "00017082" "70" "3450" "-2" "3450" "-2" "c.3450-2A>G" "r.spl?" "p.?" "" "0000538736" "00017082" "90" "3394" "0" "3394" "0" "c.3394T>C" "r.(?)" "p.(Ser1132Pro)" "" "0000538737" "00017082" "50" "3306" "28" "3306" "29" "c.3306+28_3306+29del" "r.(=)" "p.(=)" "" "0000538738" "00017082" "30" "3155" "0" "3155" "0" "c.3155C>T" "r.(?)" "p.(Thr1052Met)" "" "0000538739" "00017082" "70" "3107" "0" "3108" "0" "c.3107_3108del" "r.(?)" "p.(Leu1036CysfsTer108)" "" "0000538740" "00017082" "30" "3103" "0" "3103" "0" "c.3103G>C" "r.(?)" "p.(Val1035Leu)" "" "0000538741" "00017082" "90" "3050" "0" "3050" "0" "c.3050del" "r.(?)" "p.(Phe1017SerfsTer32)" "" "0000538742" "00017082" "70" "2953" "0" "2954" "0" "c.2953_2954del" "r.(?)" "p.(Ser985ArgfsTer7)" "" "0000538743" "00017082" "30" "2887" "10" "2887" "10" "c.2887+10G>A" "r.(=)" "p.(=)" "" "0000538744" "00017082" "30" "2887" "10" "2887" "10" "c.2887+10G>A" "r.(=)" "p.(=)" "" "0000538745" "00017082" "70" "2723" "0" "2723" "0" "c.2723del" "r.(?)" "p.(Val908GlyfsTer16)" "" "0000538746" "00017082" "70" "2645" "0" "2652" "0" "c.2645_2652del" "r.(?)" "p.(Leu882GlnfsTer11)" "" "0000538747" "00017082" "30" "2560" "8" "2560" "8" "c.2560+8G>A" "r.(=)" "p.(=)" "" "0000538748" "00017082" "30" "2560" "8" "2560" "8" "c.2560+8G>A" "r.(=)" "p.(=)" "" "0000538749" "00017082" "50" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Val829Met)" "" "0000538750" "00017082" "30" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Val829Met)" "" "0000538751" "00017082" "90" "2460" "0" "2460" "0" "c.2460C>G" "r.(?)" "p.(Tyr820Ter)" "" "0000538752" "00017082" "30" "2334" "0" "2334" "0" "c.2334G>A" "r.(?)" "p.(Thr778=)" "" "0000538753" "00017082" "70" "2308" "0" "2308" "0" "c.2308C>T" "r.(?)" "p.(Arg770Ter)" "" "0000538754" "00017082" "30" "2222" "0" "2222" "0" "c.2222C>T" "r.(?)" "p.(Ala741Val)" "" "0000538755" "00017082" "90" "2197" "0" "2198" "0" "c.2197_2198del" "r.(?)" "p.(Ser733IlefsTer4)" "" "0000538756" "00017082" "30" "2177" "0" "2177" "0" "c.2177C>G" "r.(?)" "p.(Pro726Arg)" "" "0000538757" "00017082" "50" "2173" "0" "2173" "0" "c.2173C>T" "r.(?)" "p.(Pro725Ser)" "" "0000538758" "00017082" "30" "2170" "0" "2170" "0" "c.2170G>A" "r.(?)" "p.(Glu724Lys)" "" "0000538759" "00017082" "30" "2148" "0" "2148" "0" "c.2148C>T" "r.(?)" "p.(Ser716=)" "" "0000538760" "00017082" "30" "2073" "0" "2073" "0" "c.2073C>T" "r.(?)" "p.(Thr691=)" "" "0000538762" "00017082" "30" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Arg682Cys)" "" "0000538763" "00017082" "30" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Asp632Asn)" "" "0000538764" "00017082" "90" "1810" "0" "1810" "0" "c.1810G>T" "r.(?)" "p.(Glu604Ter)" "" "0000538765" "00017082" "70" "1767" "0" "1769" "0" "c.1767_1769del" "r.(?)" "p.(Leu590del)" "" "0000538766" "00017082" "50" "1703" "0" "1703" "0" "c.1703C>T" "r.(?)" "p.(Pro568Leu)" "" "0000538767" "00017082" "10" "1665" "0" "1665" "0" "c.1665T>C" "r.(?)" "p.(Asn555=)" "" "0000538768" "00017082" "10" "1602" "15" "1602" "17" "c.1602+15_1602+17del" "r.(=)" "p.(=)" "" "0000538769" "00017082" "30" "1560" "0" "1560" "0" "c.1560C>T" "r.(?)" "p.(His520=)" "" "0000538770" "00017082" "90" "1537" "0" "1537" "0" "c.1537G>T" "r.(?)" "p.(Asp513Tyr)" "" "0000538771" "00017082" "70" "1530" "0" "1535" "0" "c.1530_1535del" "r.(?)" "p.(Gly511_Val512del)" "" "0000538772" "00017082" "90" "1526" "0" "1526" "0" "c.1526G>A" "r.(?)" "p.(Gly509Asp)" "" "0000538773" "00017082" "30" "1504" "-8" "1504" "-8" "c.1504-8T>C" "r.(=)" "p.(=)" "" "0000538774" "00017082" "30" "1503" "6" "1503" "6" "c.1503+6A>G" "r.(=)" "p.(=)" "" "0000538775" "00017082" "90" "1450" "0" "1450" "0" "c.1450G>A" "r.(?)" "p.(Gly484Arg)" "" "0000538776" "00017082" "50" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Val442Met)" "" "0000538777" "00017082" "30" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Asp436Asn)" "" "0000538778" "00017082" "90" "1225" "0" "1225" "0" "c.1225C>T" "r.(?)" "p.(Gln409Ter)" "" "0000538780" "00017082" "30" "945" "20" "945" "20" "c.945+20G>A" "r.(=)" "p.(=)" "" "0000538781" "00017082" "70" "747" "-2" "747" "-2" "c.747-2A>G" "r.spl?" "p.?" "" "0000538782" "00017082" "10" "735" "0" "735" "0" "c.735A>G" "r.(?)" "p.(Thr245=)" "" "0000538784" "00017082" "50" "419" "0" "419" "0" "c.419T>C" "r.(?)" "p.(Leu140Ser)" "" "0000538785" "00017082" "90" "258" "0" "259" "0" "c.258_259del" "r.(?)" "p.(Leu87IlefsTer2)" "" "0000538786" "00017082" "70" "202" "-2" "202" "-2" "c.202-2A>C" "r.spl?" "p.?" "" "0000538787" "00017082" "50" "174" "0" "174" "0" "c.174C>T" "r.(?)" "p.(Ala58=)" "" "0000538788" "00017082" "30" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Ala43Thr)" "" "0000538790" "00017082" "30" "113" "0" "113" "0" "c.113G>T" "r.(?)" "p.(Gly38Val)" "" "0000538791" "00017082" "30" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Glu)" "" "0000538792" "00017082" "30" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Glu)" "" "0000538793" "00017082" "30" "109" "0" "109" "0" "c.109G>C" "r.(?)" "p.(Gly37Arg)" "" "0000538794" "00017082" "90" "114" "0" "114" "0" "c.114del" "r.(?)" "p.(Leu39CysfsTer41)" "" "0000538795" "00017082" "30" "37" "0" "37" "0" "c.37C>G" "r.(?)" "p.(Arg13Gly)" "" "0000538798" "00017082" "30" "-9" "0" "-4" "0" "c.-9_-4del" "r.(?)" "p.(=)" "" "0000538799" "00017082" "30" "-6" "0" "-4" "0" "c.-6_-4dup" "r.(?)" "p.(=)" "" "0000538800" "00017082" "30" "-8297" "0" "-8297" "0" "c.-8297G>C" "r.(?)" "p.(=)" "" "0000538803" "00017082" "30" "-8329" "0" "-8329" "0" "c.-8329A>G" "r.(?)" "p.(=)" "" "0000538804" "00017082" "10" "-8318" "0" "-8316" "0" "c.-8318_-8316dup" "r.(?)" "p.(=)" "" "0000538805" "00017082" "30" "-8375" "0" "-8375" "0" "c.-8375G>C" "r.(?)" "p.(=)" "" "0000612201" "00017082" "30" "4080" "0" "4080" "0" "c.4080C>T" "r.(?)" "p.(Ser1360=)" "" "0000612202" "00017082" "30" "3192" "0" "3192" "0" "c.3192G>A" "r.(?)" "p.(Thr1064=)" "" "0000612203" "00017082" "50" "2597" "0" "2597" "0" "c.2597G>A" "r.(?)" "p.(Gly866Glu)" "" "0000612204" "00017082" "50" "2597" "0" "2597" "0" "c.2597G>A" "r.(?)" "p.(Gly866Glu)" "" "0000612207" "00017082" "70" "572" "0" "575" "0" "c.572_575dup" "r.(?)" "p.(Met192IlefsTer61)" "" "0000612208" "00017082" "50" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Cys)" "" "0000612209" "00017082" "30" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Ala61Thr)" "" "0000612210" "00017082" "30" "174" "0" "174" "0" "c.174C>T" "r.(?)" "p.(Ala58=)" "" "0000612211" "00017082" "30" "-9" "0" "-4" "0" "c.-9_-4dup" "r.(?)" "p.(=)" "" "0000612212" "00017082" "30" "-6" "0" "-4" "0" "c.-6_-4dup" "r.(?)" "p.(=)" "" "0000626566" "00017082" "50" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Pro1314Ser)" "" "0000630876" "00017082" "90" "3094" "0" "3095" "0" "c.3094_3095del" "r.(?)" "p.(Ile1032fs)" "" "0000631928" "00017082" "90" "2506" "0" "2506" "0" "c.2506G>T" "r.(?)" "p.(Glu836*)" "" "0000652757" "00017082" "30" "4575" "0" "4575" "0" "c.*231T>C" "r.(=)" "p.(=)" "" "0000652758" "00017082" "50" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Val1414Met)" "" "0000652760" "00017082" "30" "2678" "0" "2678" "0" "c.2678G>A" "r.(?)" "p.(Arg893His)" "" "0000652761" "00017082" "50" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Val829Met)" "" "0000652762" "00017082" "10" "2479" "0" "2479" "0" "c.2479A>G" "r.(?)" "p.(Ser827Gly)" "" "0000652763" "00017082" "10" "2250" "25" "2250" "25" "c.2250+25T>C" "r.(=)" "p.(=)" "" "0000652764" "00017082" "30" "2183" "0" "2183" "0" "c.2183C>T" "r.(?)" "p.(Thr728Met)" "" "0000652765" "00017082" "90" "666" "0" "666" "0" "c.666T>A" "r.(?)" "p.(Tyr222*)" "" "0000652766" "00017082" "90" "343" "0" "343" "0" "c.343G>T" "r.(?)" "p.(Gly115*)" "" "0000652767" "00017082" "30" "318" "0" "318" "0" "c.318C>T" "r.(=)" "p.(=)" "" "0000656391" "00017082" "50" "4141" "0" "4141" "0" "c.4141G>A" "r.(?)" "p.(Val1381Met)" "" "0000656392" "00017082" "50" "3395" "0" "3395" "0" "c.3395C>T" "r.(?)" "p.(Ser1132Phe)" "" "0000656393" "00017082" "70" "2812" "0" "2812" "0" "c.2812C>T" "r.(?)" "p.(Gln938Ter)" "" "0000656394" "00017082" "30" "2634" "0" "2634" "0" "c.2634C>T" "r.(?)" "p.(Asp878=)" "" "0000656395" "00017082" "50" "2563" "0" "2563" "0" "c.2563C>T" "r.(?)" "p.(Leu855Phe)" "" "0000656396" "00017082" "30" "735" "0" "735" "0" "c.735A>G" "r.(?)" "p.(Thr245=)" "" "0000656397" "00017082" "30" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(Ala174=)" "" "0000663282" "00017082" "33" "4321" "0" "4321" "0" "c.4321C>T" "r.(?)" "p.(Pro1441Ser)" "23" "0000663283" "00017082" "77" "1347" "2" "1347" "2" "c.1347+2T>C" "r.(?)" "p.(?)" "9i" "0000670075" "00017082" "30" "2678" "0" "2678" "0" "c.2678G>A" "r.(?)" "p.(Arg893His)" "" "0000670076" "00017082" "10" "2250" "25" "2250" "25" "c.2250+25T>C" "r.(=)" "p.(=)" "" "0000675068" "00017082" "70" "383" "0" "383" "0" "c.383T>C" "r.(?)" "p.(Leu128Pro)" "2" "0000675069" "00017082" "70" "3169" "-2" "3169" "-2" "c.3169-2A>C" "r.spl" "p.?" "18i" "0000675070" "00017082" "50" "4325" "0" "4325" "0" "c.4325G>A" "r.(?)" "p.(Arg1442Gln)" "23" "0000675072" "00017082" "70" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Asp390Asn)" "8" "0000675073" "00017082" "70" "1170" "0" "1170" "0" "c.1170del" "r.(?)" "p.(Asp390Glufs*42)" "8" "0000678738" "00017082" "30" "3954" "0" "3954" "0" "c.3954G>A" "r.(?)" "p.(Pro1318=)" "" "0000678739" "00017082" "50" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Arg665Cys)" "" "0000678740" "00017082" "30" "1233" "0" "1233" "0" "c.1233C>T" "r.(?)" "p.(Val411=)" "" "0000678741" "00017082" "50" "148" "0" "149" "0" "c.148_149del" "r.(?)" "p.(Leu50AlafsTer39)" "" "0000684773" "00017082" "10" "2479" "0" "2479" "0" "c.2479A>G" "r.(?)" "p.(Ser827Gly)" "" "0000690612" "00017082" "30" "4048" "0" "4048" "0" "c.4048C>T" "r.(?)" "p.(Arg1350Trp)" "" "0000690613" "00017082" "30" "3839" "0" "3839" "0" "c.3839C>T" "r.(?)" "p.(Ser1280Leu)" "" "0000690614" "00017082" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Gln856Ter)" "" "0000690615" "00017082" "90" "2513" "0" "2516" "0" "c.2513_2516del" "r.(?)" "p.(Lys838SerfsTer64)" "" "0000690616" "00017082" "90" "2387" "0" "2390" "0" "c.2387_2390del" "r.(?)" "p.(Lys796ThrfsTer9)" "" "0000690617" "00017082" "50" "1216" "-6" "1216" "-6" "c.1216-6C>A" "r.(=)" "p.(=)" "" "0000690618" "00017082" "50" "1094" "0" "1094" "0" "c.1094A>G" "r.(?)" "p.(Gln365Arg)" "" "0000690619" "00017082" "50" "945" "5" "945" "5" "c.945+5G>A" "r.spl?" "p.?" "" "0000690620" "00017082" "50" "319" "0" "321" "0" "c.319_321del" "r.(?)" "p.(Leu107del)" "" "0000722605" "00017082" "90" "4187" "0" "4187" "0" "c.4187del" "r.(?)" "p.(Gly1396Aspfs*56)" "" "0000722606" "00017082" "50" "3890" "0" "3890" "0" "c.3890G>A" "r.(?)" "p.(Arg1297Gln)" "" "0000722607" "00017082" "90" "3081" "0" "3081" "0" "c.3081del" "r.(?)" "p.(Trp1027Cysfs*22)" "" "0000722608" "00017082" "70" "1961" "0" "1961" "0" "c.1961C>T" "r.(?)" "p.(Thr654Met)" "" "0000722609" "00017082" "90" "1854" "0" "1854" "0" "c.1854C>A" "r.(?)" "p.(Cys618*)" "" "0000722610" "00017082" "90" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Gln365*)" "" "0000722611" "00017082" "90" "605" "0" "605" "0" "c.605del" "r.(?)" "p.(Leu202Cysfs*18)" "" "0000722612" "00017082" "90" "262" "0" "266" "0" "c.262_266del" "r.(?)" "p.(Phe88Thrfs*50)" "" "0000722613" "00017082" "90" "122" "0" "122" "0" "c.122del" "r.(?)" "p.(Arg41Leufs*39)" "" "0000804229" "00017082" "30" "4033" "0" "4033" "0" "c.4033C>T" "r.(?)" "p.(Arg1345Cys)" "" "0000804230" "00017082" "30" "3839" "0" "3839" "0" "c.3839C>T" "r.(?)" "p.(Ser1280Leu)" "" "0000804231" "00017082" "30" "1234" "0" "1234" "0" "c.1234G>T" "r.(?)" "p.(Ala412Ser)" "" "0000804232" "00017082" "50" "500" "0" "500" "0" "c.500C>A" "r.(?)" "p.(Ala167Asp)" "" "0000804233" "00017082" "30" "-6" "0" "-4" "0" "c.-6_-4dup" "r.(?)" "p.(=)" "" "0000844854" "00017082" "30" "3944" "0" "3944" "0" "c.3944C>T" "r.(?)" "p.(Pro1315Leu)" "" "0000844861" "00017082" "30" "3944" "0" "3944" "0" "c.3944C>T" "r.(?)" "p.(Pro1315Leu)" "" "0000845108" "00017082" "90" "1247" "0" "1247" "0" "c.1247C>G" "r.(?)" "p.(Thr416Ser)" "" "0000845109" "00017082" "90" "2479" "0" "2479" "0" "c.2479A>G" "r.(?)" "p.(Ser827Gly)" "" "0000852341" "00017082" "30" "4048" "0" "4048" "0" "c.4048C>T" "r.(?)" "p.(Arg1350Trp)" "" "0000852342" "00017082" "30" "2787" "0" "2787" "0" "c.2787C>T" "r.(?)" "p.(Asn929=)" "" "0000852343" "00017082" "50" "2153" "0" "2153" "0" "c.2153C>G" "r.(?)" "p.(Ser718Cys)" "" "0000852344" "00017082" "90" "746" "1" "746" "1" "c.746+1G>C" "r.spl?" "p.?" "" "0000861766" "00017082" "10" "4325" "0" "4325" "0" "c.4325G>A" "r.(?)" "p.(Arg1442Gln)" "" "0000861767" "00017082" "10" "3387" "0" "3387" "0" "c.3387C>T" "r.(?)" "p.(Gly1129=)" "" "0000861768" "00017082" "50" "3284" "0" "3298" "0" "c.3284_3298del" "r.(?)" "p.(Glu1095_His1099del)" "" "0000861769" "00017082" "90" "2332" "0" "2332" "0" "c.2332dup" "r.(?)" "p.(Thr778Asnfs*12)" "" "0000861770" "00017082" "30" "2199" "0" "2199" "0" "c.2199A>G" "r.(?)" "p.(Ser733=)" "" "0000861771" "00017082" "30" "2199" "0" "2199" "0" "c.2199A>G" "r.(?)" "p.(Ser733=)" "" "0000861772" "00017082" "30" "2016" "0" "2016" "0" "c.2016G>A" "r.(?)" "p.(Thr672=)" "" "0000861773" "00017082" "10" "1641" "0" "1641" "0" "c.1641C>T" "r.(?)" "p.(Ser547=)" "" "0000876945" "00017082" "90" "1371" "0" "1371" "0" "c.1371del" "r.(?)" "p.(Met457Ilefs*34)" "" "0000876946" "00017082" "90" "2796" "0" "2800" "0" "c.2796_2800del" "r.(?)" "p.(Ala933Cysfs*24)" "" "0000881306" "00017082" "90" "1197" "0" "1197" "0" "c.1197del" "r.(?)" "p.(Trp399CysfsTer33)" "" "0000888938" "00017082" "50" "3997" "0" "3997" "0" "c.3997C>G" "r.(?)" "p.(Pro1333Ala)" "" "0000888939" "00017082" "30" "3953" "0" "3953" "0" "c.3953C>T" "r.(?)" "p.(Pro1318Leu)" "" "0000888940" "00017082" "30" "3630" "0" "3630" "0" "c.3630G>A" "r.(?)" "p.(Pro1210=)" "" "0000888941" "00017082" "50" "3376" "0" "3376" "0" "c.3376G>A" "r.(?)" "p.(Val1126Ile)" "" "0000888942" "00017082" "90" "1823" "0" "1824" "0" "c.1823_1824del" "r.(?)" "p.(Leu608Argfs*18)" "" "0000888943" "00017082" "30" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Asp436Asn)" "" "0000888944" "00017082" "50" "-12" "0" "-4" "0" "c.-12_-4del" "r.(?)" "p.(=)" "" "0000888945" "00017082" "30" "-6" "0" "-4" "0" "c.-6_-4dup" "r.(?)" "p.(=)" "" "0000920416" "00017082" "50" "211" "0" "211" "0" "c.211A>G" "r.(?)" "p.(Thr71Ala)" "" "0000922631" "00017082" "70" "1991" "0" "1997" "0" "c.1991_1997del" "r.(?)" "p.(Leu664Argfs*27)" "" "0000922632" "00017082" "70" "1503" "3" "1503" "3" "c.1503+3A>G" "r.spl?" "p.?" "" "0000922633" "00017082" "70" "456" "0" "457" "0" "c.456_457del" "r.(?)" "p.(Met152Ilefs*2)" "" "0000925081" "00017082" "70" "1367" "0" "1368" "0" "c.1367_1368insTA" "r.(?)" "p.(Met457Thrfs*35)" "" "0000925082" "00017082" "90" "1250" "0" "1253" "0" "c.1250_1253del" "r.(?)" "p.(Gln417Argfs*14)" "" "0000925083" "00017082" "30" "1183" "0" "1183" "0" "c.1183A>G" "r.(?)" "p.(Ile395Val)" "" "0000925084" "00017082" "70" "654" "1" "654" "1" "c.654+1G>T" "r.spl?" "p.?" "" "0000925085" "00017082" "30" "624" "0" "624" "0" "c.624G>A" "r.(?)" "p.(Glu208=)" "" "0000925086" "00017082" "30" "318" "0" "318" "0" "c.318C>T" "r.(?)" "p.(Leu106=)" "" "0000925087" "00017082" "50" "-8459" "0" "-8459" "0" "c.-8459A>G" "r.(?)" "p.(=)" "" "0000927590" "00017082" "70" "3168" "1" "3168" "1" "c.3168+1G>A" "r.(?)" "p.(?)" "" "0000929629" "00017082" "70" "746" "1" "746" "1" "c.746+1G>A" "r.spl?" "p.?" "" "0000929630" "00017082" "90" "746" "1" "746" "1" "c.746+1G>A" "r.spl?" "p.?" "" "0000929631" "00017082" "90" "290" "0" "290" "0" "c.290del" "r.(?)" "p.(Asn97Thrfs*20)" "" "0000931917" "00017082" "70" "945" "5" "945" "5" "c.945+5G>A" "r.(?)" "p.(?)" "" "0000931925" "00017082" "90" "1987" "0" "1987" "0" "c.1987del" "r.(?)" "p.(Gln663SerfsTer30)" "" "0000946770" "00017082" "90" "1312" "0" "1312" "0" "c.1312dup" "r.(?)" "p.(Ser438Lysfs*59)" "9" "0000949328" "00017082" "90" "1212" "0" "1215" "2" "c.1212_1215+2del" "r.(?)" "p.(Glu405_Val406del)" "" "0000949329" "00017082" "90" "813" "0" "819" "0" "c.813_819del" "r.(?)" "p.(Asn272Lysfs*9)" "" "0000954148" "00017082" "70" "2500" "0" "2500" "0" "c.2500T>G" "r.(?)" "p.(Leu834Val)" "" "0000965544" "00017082" "30" "3953" "0" "3953" "0" "c.3953C>T" "r.(?)" "p.(Pro1318Leu)" "" "0000965545" "00017082" "50" "3947" "0" "3947" "0" "c.3947A>G" "r.(?)" "p.(Tyr1316Cys)" "" "0000965548" "00017082" "70" "1538" "0" "1538" "0" "c.1538A>T" "r.(?)" "p.(Asp513Val)" "" "0000965550" "00017082" "30" "37" "0" "37" "0" "c.37C>G" "r.(?)" "p.(Arg13Gly)" "" "0000978826" "00017082" "50" "3955" "0" "3955" "0" "c.3955C>T" "r.(?)" "p.(Arg1319Cys)" "" "0000978827" "00017082" "30" "3487" "0" "3487" "0" "c.3487G>A" "r.(?)" "p.(Gly1163Ser)" "" "0000978828" "00017082" "30" "2888" "-8" "2888" "-8" "c.2888-8C>T" "r.(=)" "p.(=)" "" "0000978829" "00017082" "70" "1602" "1" "1602" "1" "c.1602+1G>A" "r.spl?" "p.?" "" "0000978830" "00017082" "90" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Trp399*)" "" "0000978831" "00017082" "50" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Thr307Ile)" "" "0000978832" "00017082" "50" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Gly290Asp)" "" "0000978833" "00017082" "30" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(=)" "" "0000978834" "00017082" "30" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" "" "0000978835" "00017082" "90" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135*)" "" "0000978836" "00017082" "50" "229" "0" "229" "0" "c.229C>G" "r.(?)" "p.(Leu77Val)" "" "0000978837" "00017082" "50" "-8446" "0" "-8446" "0" "c.-8446del" "r.(?)" "p.(=)" "" "0000987791" "00017082" "50" "395" "-62" "395" "-62" "c.395-62C>T" "r.(?)" "p.(?)" "" "0000987844" "00017082" "50" "3804" "42" "3804" "42" "c.3804+42G>A" "r.(?)" "p.(?)" "" "0000987939" "00017082" "50" "2615" "0" "2615" "0" "c.2615A>C" "r.(?)" "p.(Asn872Thr)" "" "0000998012" "00017082" "30" "4274" "0" "4274" "0" "c.4274C>T" "r.(?)" "p.(Ser1425Leu)" "" "0000998013" "00017082" "50" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Val1414Met)" "" "0000998014" "00017082" "70" "4180" "0" "4180" "0" "c.4180C>T" "r.(?)" "p.(Arg1394Ter)" "" "0000998015" "00017082" "30" "3947" "0" "3947" "0" "c.3947A>G" "r.(?)" "p.(Tyr1316Cys)" "" "0000998016" "00017082" "50" "3913" "0" "3913" "0" "c.3913G>A" "r.(?)" "p.(Asp1305Asn)" "" "0000998017" "00017082" "30" "3816" "0" "3816" "0" "c.3816C>T" "r.(?)" "p.(=)" "" "0000998018" "00017082" "30" "3758" "0" "3758" "0" "c.3758A>G" "r.(?)" "p.(Gln1253Arg)" "" "0000998019" "00017082" "50" "3706" "0" "3706" "0" "c.3706G>A" "r.(?)" "p.(Glu1236Lys)" "" "0000998020" "00017082" "30" "3643" "0" "3643" "0" "c.3643C>T" "r.(?)" "p.(His1215Tyr)" "" "0000998021" "00017082" "30" "3641" "0" "3641" "0" "c.3641C>T" "r.(?)" "p.(Thr1214Met)" "" "0000998022" "00017082" "30" "3472" "0" "3472" "0" "c.3472A>C" "r.(?)" "p.(Ile1158Leu)" "" "0000998023" "00017082" "30" "2936" "0" "2936" "0" "c.2936A>G" "r.(?)" "p.(Asn979Ser)" "" "0000998024" "00017082" "30" "2819" "0" "2819" "0" "c.2819A>G" "r.(?)" "p.(Asn940Ser)" "" "0000998025" "00017082" "50" "2797" "0" "2797" "0" "c.2797G>A" "r.(?)" "p.(Ala933Thr)" "" "0000998026" "00017082" "50" "2717" "0" "2717" "0" "c.2717G>T" "r.(?)" "p.(Arg906Leu)" "" "0000998027" "00017082" "30" "2470" "0" "2470" "0" "c.2470A>G" "r.(?)" "p.(Arg824Gly)" "" "0000998028" "00017082" "30" "2348" "0" "2348" "0" "c.2348G>A" "r.(?)" "p.(Arg783Gln)" "" "0000998029" "00017082" "30" "2105" "0" "2105" "0" "c.2105C>G" "r.(?)" "p.(Pro702Arg)" "" "0000998030" "00017082" "50" "2020" "0" "2020" "0" "c.2020G>A" "r.(?)" "p.(Val674Met)" "" "0000998031" "00017082" "50" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Arg638Cys)" "" "0000998032" "00017082" "50" "1874" "0" "1874" "0" "c.1874T>A" "r.(?)" "p.(Val625Asp)" "" "0000998033" "00017082" "30" "1216" "-6" "1216" "-6" "c.1216-6C>A" "r.(=)" "p.(=)" "" "0000998034" "00017082" "50" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Lys96Gln)" "" "0000998035" "00017082" "50" "92" "0" "98" "0" "c.92_98dup" "r.(?)" "p.(Arg34Glufs*58)" "" "0001008496" "00017082" "50" "584" "3" "584" "3" "c.584+3A>T" "r.(?)" "p.(?)" "" "0001008520" "00017082" "90" "1418" "0" "1418" "0" "c.1418del" "r.(?)" "p.(Gly473AlafsTer18)" "" "0001008523" "00017082" "70" "1526" "0" "1526" "0" "c.1526G>A" "r.(?)" "p.(Gly509Asp)" "" "0001011570" "00017082" "50" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Gly19Asp)" "" "0001014574" "00017082" "30" "2680" "0" "2680" "0" "c.2680G>A" "r.(?)" "p.(Asp894Asn)" "" "0001014575" "00017082" "30" "1215" "23" "1215" "23" "c.1215+23G>A" "r.(=)" "p.(=)" "" "0001014576" "00017082" "50" "201" "0" "201" "0" "c.201G>A" "r.(?)" "p.(=)" "" "0001025690" "00017082" "30" "4325" "0" "4325" "0" "c.4325G>A" "r.(?)" "p.(Arg1442Gln)" "" "0001025691" "00017082" "50" "3955" "0" "3955" "0" "c.3955C>T" "r.(?)" "p.(Arg1319Cys)" "" "0001025692" "00017082" "30" "3633" "0" "3633" "0" "c.3633C>G" "r.(?)" "p.(=)" "" "0001025693" "00017082" "70" "2405" "0" "2407" "0" "c.2405_2407del" "r.(?)" "p.(Asn802del)" "" "0001025694" "00017082" "10" "2183" "0" "2183" "0" "c.2183C>T" "r.(?)" "p.(Thr728Met)" "" "0001025695" "00017082" "50" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Asp632Asn)" "" "0001025696" "00017082" "30" "37" "0" "37" "0" "c.37C>G" "r.(?)" "p.(Arg13Gly)" "" "0001037639" "00017082" "30" "4321" "0" "4321" "0" "c.4321C>T" "r.(?)" "p.(Pro1441Ser)" "" "0001037640" "00017082" "50" "3301" "0" "3301" "0" "c.3301G>A" "r.(?)" 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