### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FGFR1) # 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}}" "FGFR1" "fibroblast growth factor receptor 1" "8" "p12" "unknown" "NG_007729.1" "UD_132119123474" "" "http://www.LOVD.nl/FGFR1" "" "1" "3688" "2260" "136350" "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/FGFR1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-05-24 10:48:48" "00000" "2025-09-23 16:05:03" ## 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}}" "00024177" "FGFR1" "transcript variant 1" "005" "NM_023110.2" "" "NP_075598.2" "" "" "" "-942" "4959" "2469" "38326352" "38268656" "00006" "2016-10-11 13:14:38" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00438" "HPE" "holoprosencephaly (HPE)" "" "236100" "" "" "" "00662" "2014-06-30 10:33:45" "00006" "2015-12-04 07:41:19" "00526" "Pfeiffer" "Pfeiffer syndrome" "AD" "101600" "" "" "" "00006" "2014-09-16 21:40:49" "00006" "2021-12-10 21:51:32" "00632" "ABS1" "Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS-1)" "AR" "201750" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00650" "JWS" "Jackson-Weiss syndrome" "AD" "123150" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00651" "HH2;KAL2" "hypogonadism, hypogonadotropic, type 2 with/without anosmia (HH2)" "AD" "147950" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-11-26 11:52:08" "00652" "OGD" "dysplasia, osteoglophonic (OGD)" "AD" "166250" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00653" "TRIGNO1" "trigonocephaly, type 1 (TRIGNO-1)" "AD" "190440" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01388" "HH7" "hypogonadism, hypogonadotropic, type 7 (HH7)" "AR" "146110" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03839" "RDCCAS" "dystrophy, retinal, iris coloboma, and comedogenic acne syndrome" "AR" "615147" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-12-22 18:05:51" "04473" "HRTFDS" "Hartsfield syndrome (HRTFDS)" "AD" "615465" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05192" "ECCL" "lipomatosis, encephalocraniocutaneous (ECCL)" "" "613001" "" "" "" "00006" "2016-10-11 10:00:03" "" "" "05198" "KAL" "Kallmann syndrome (KAL)" "" "" "" "" "" "00006" "2016-10-21 14:34:27" "" "" "05284" "ANI" "anosmia, isolated (ANI)" "" "" "" "" "" "00006" "2017-06-16 19:42:14" "" "" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05420" "KS" "Kallmann syndrome" "" "" "" "" "" "01796" "2018-04-12 03:54:33" "" "" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{geneid}}" "{{diseaseid}}" "FGFR1" "00139" "FGFR1" "00526" "FGFR1" "00650" "FGFR1" "00651" "FGFR1" "00652" "FGFR1" "00653" "FGFR1" "01388" "FGFR1" "04473" "FGFR1" "05192" ## Individuals ## Do not remove or alter this header ## ## Count = 220 "{{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}}" "00037765" "" "" "" "1" "" "01284" "" "" "M" "-" "Belgium" "" "0" "" "" "European" "" "00065246" "" "" "" "1" "" "01606" "{PMID:Bennett JT 2016:26942290}, {DOI:Bennett JT 2016:10.1016/j.ajhg.2016.02.006}" "" "M" "" "" ">07y" "" "" "" "" "26942290 LR12-068" "00065248" "" "" "" "1" "" "01606" "{PMID:Bennett JT 2016:26942290}, {DOI:Bennett JT 2016:10.1016/j.ajhg.2016.02.006}" "" "M" "" "" ">15y" "" "" "" "" "26942290 LR13-278" "00065250" "" "" "" "1" "" "01606" "{PMID:Bennett JT 2016:26942290}, {DOI:Bennett JT 2016:10.1016/j.ajhg.2016.02.006}" "" "M" "" "" ">00y17m" "" "" "" "" "26942290 IN_0039" "00065253" "" "" "" "1" "" "01606" "{PMID:Bennett JT 2016:26942290}, {DOI:Bennett JT 2016:10.1016/j.ajhg.2016.02.006}" "" "M" "" "" ">02y08m" "" "" "" "" "26942290 NIH_183" "00065254" "" "" "" "1" "" "01606" "{PMID:Bennett JT 2016:26942290}, {DOI:Bennett JT 2016:10.1016/j.ajhg.2016.02.006}" "" "F" "" "" ">05y" "" "" "" "" "26942290 LR14-261" "00081732" "" "" "" "1" "" "00006" "{PMID:Hanchate 2012:22927827}, {DOI:Hanchate 2012:10.1371/journal.pgen.1002896}" "targeted sequencing in 386 Kallmann syndrome patients, 1 affected" "M" "" "France" "" "0" "" "" "" "" "00091783" "" "" "" "1" "" "00006" "{PMID:Huang 2005:15793702}" "" "" "no" "Ireland" "" "0" "" "" "" "" "00094957" "" "" "" "1" "" "01861" "" "" "M" "" "Japan" "" "0" "" "" "" "" "00095072" "" "" "" "1" "" "01861" "" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00095073" "" "" "" "1" "" "01861" "" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00095074" "" "" "" "1" "" "01861" "" "" "M" "?" "Japan" "" "0" "" "" "Japanese" "" "00104944" "" "" "" "3" "" "02034" "" "" "M" "no" "Israel" "" "0" "" "" "Jewish" "" "00174403" "" "" "" "1" "" "02544" "" "" "M" "no" "(Italy)" "" "0" "" "" "" "" "00226336" "" "" "" "1" "" "03224" "" "" "?" "?" "" "" "0" "" "" "" "patient6" "00226338" "" "" "" "1" "" "03224" "" "" "M" "?" "" "" "0" "" "" "" "patient7" "00231467" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat97" "00283914" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283915" "" "" "" "1" "" "00004" "{PMID:Sarfati 2013:24031091}" "" "" "" "" "" "0" "" "" "" "" "00283916" "" "" "" "1" "" "00004" "{PMID:Trarbach 2006:16882753}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283917" "" "" "" "1" "" "00004" "{PMID:Sykiotis 2010:20696889}" "" "" "" "" "" "0" "" "" "" "" "00283918" "" "" "" "1" "" "00004" "{PMID:Sykiotis 2010:20696889}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00283919" "" "" "" "1" "" "00004" "{PMID:Costa-Barbosa 2013:23533228}" "" "" "" "" "" "0" "" "" "" "" "00283920" "" "" "" "1" "" "00004" "{PMID:Sykiotis 2010:20696889}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283921" "" "" "" "1" "" "00004" "{PMID:Balasubramanian 1993:20301509}, {PMID:Laitinen 2011:21682876}, {PMID:Falardeau 2008:18596921}" "" "" "" "" "" "0" "" "" "" "" "00283922" "" "" "" "1" "" "00004" "{PMID:Caronia 2011:21247312}" "" "" "" "" "" "0" "" "" "" "" "00283923" "" "" "" "1" "" "00004" "{PMID:Shaw 2011:21209029}" "" "" "" "" "" "0" "" "" "" "" "00283924" "" "" "" "1" "" "00004" "{PMID:Sato 2004:15001591}, {PMID:Rajith 2013:23329143}, {PMID:Sykiotis 2010:20696889}" "" "" "" "" "" "0" "" "" "" "" "00283925" "" "" "" "1" "" "00004" "{PMID:Zhu 2015:25636053}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "" "" "0" "" "" "" "" "00283926" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}" "" "" "" "" "" "0" "" "" "" "" "00283927" "" "" "" "1" "" "00004" "{PMID:Albuisson 2005:15605412}" "" "" "" "" "" "0" "" "" "" "" "00283928" "" "" "" "1" "" "00004" "{PMID:Sykiotis 2010:20696889}, {PMID:Shaw 2011:21209029}" "" "" "" "" "" "0" "" "" "" "" "00283929" "" "" "" "1" "" "00004" "{PMID:Simonis 2013:23812909}, {PMID:Solomon 1993:20301702}, {PMID:Vilain 2009:19504604}" "" "" "" "" "" "0" "" "" "" "" "00283930" "" "" "" "1" "" "00004" "{PMID:Laitinen 2011:21682876}, {PMID:Pitteloud 2006:16606836}, {PMID:Balasubramanian 1993:20301509}" "" "" "" "" "" "0" "" "" "" "" "00283931" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2006:16606836}" "" "" "" "" "" "0" "" "" "" "" "00283932" "" "" "" "1" "" "00004" "{PMID:Trarbach 2006:16882753}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283933" "" "" "" "1" "" "00004" "{PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283934" "" "" "" "1" "" "00004" "{PMID:Costa-Barbosa 2013:23533228}" "" "" "" "" "" "0" "" "" "" "" "00283935" "" "" "" "1" "" "00004" "{PMID:Costa-Barbosa 2013:23533228}" "" "" "" "" "" "0" "" "" "" "" "00283936" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00283937" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283938" "" "" "" "1" "" "00004" "{PMID:Sykiotis 2010:20696889}" "" "" "" "" "" "0" "" "" "" "" "00283939" "" "" "" "1" "" "00004" "{PMID:Balasubramanian 1993:20301509}, {PMID:Laitinen 2011:21682876}, {PMID:Vizeneux 2013:24204987}" "" "" "" "" "" "0" "" "" "" "" "00283940" "" "" "" "1" "" "00004" "{PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283941" "" "" "" "1" "" "00004" "{PMID:Cadman 2007:17191030}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00283942" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00283943" "" "" "" "1" "" "00004" "{PMID:Zhu 2015:25636053}, {PMID:Sato 2005:15845591}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00283944" "" "" "" "1" "" "00004" "{PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283945" "" "" "" "1" "" "00004" "{PMID:Laitinen 2010:20079901}" "" "" "" "" "" "0" "" "" "" "" "00283946" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00283947" "" "" "" "1" "" "00004" "{PMID:Dodé 2003:12627230}" "" "" "" "" "" "0" "" "" "" "" "00283948" "" "" "" "1" "" "00004" "{PMID:Zhu 2015:25636053}, {PMID:Laitinen 2011:21682876}, {PMID:Pitteloud 2006:16606836}, {PMID:Balasubramanian 1993:20301509}, {PMID:Miraoui 2013:23643382}, {PMID:Raivio 2009:19820032}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283949" "" "" "" "1" "" "00004" "{PMID:Raivio 2009:19820032}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00283950" "" "" "" "1" "" "00004" "{PMID:Laitinen 2011:21682876}" "" "" "" "" "" "0" "" "" "" "" "00283951" "" "" "" "1" "" "00004" "{PMID:Costa-Barbosa 2013:23533228}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00283952" "" "" "" "1" "" "00004" "{PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283953" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00283954" "" "" "" "1" "" "00004" "{PMID:Dodé 2007:17154279}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283955" "" "" "" "1" "" "00004" "{PMID:Dodé 2007:17154279}" "" "" "" "" "" "0" "" "" "" "" "00283956" "" "" "" "1" "" "00004" "{PMID:Dodé 2003:12627230}" "" "" "" "" "" "0" "" "" "" "" "00283957" "" "" "" "1" "" "00004" "{PMID:Tommiska 2014:24732674}" "" "" "" "" "" "0" "" "" "" "" "00283958" "" "" "" "1" "" "00004" "{PMID:Zhu 2015:25636053}, {PMID:Shaw 2011:21209029}" "" "" "" "" "" "0" "" "" "" "" "00283959" "" "" "" "1" "" "00004" "{PMID:Sarfati 2013:24031091}" "" "" "" "" "" "0" "" "" "" "" "00283960" "" "" "" "1" "" "00004" "{PMID:Shaw 2011:21209029}" "" "" "" "" "" "0" "" "" "" "" "00283961" "" "" "" "1" "" "00004" "{PMID:Simonis 2013:23812909}" "" "" "" "" "" "0" "" "" "" "" "00283962" "" "" "" "1" "" "00004" "{PMID:Dhamija 2014:24888332}" "" "" "" "" "" "0" "" "" "" "" "00283963" "" "" "" "1" "" "00004" "{PMID:Simonis 2013:23812909}, {PMID:Solomon 1993:20301702}" "" "" "" "" "" "0" "" "" "" "" "00283964" "" "" "" "1" "" "00004" "{PMID:Bailleul-Forestier 2010:20536592}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283965" "" "" "" "1" "" "00004" "{PMID:Xu 2007:17200176}, {PMID:Balasubramanian 1993:20301509}, {PMID:Zhu 2015:25636053}, {PMID:Laitinen 2011:21682876}, {PMID:Dodé 2003:12627230}, {PMID:Miraoui 2013:23643382}, {PMID:Sykiotis 2010:20696889}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283966" "" "" "" "1" "" "00004" "{PMID:Zenaty 2006:16757108}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283967" "" "" "" "1" "" "00004" "{PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283968" "" "" "" "1" "" "00004" "{PMID:Raivio 2009:19820032}, {PMID:Miraoui 2013:23643382}, {PMID:Sykiotis 2010:20696889}" "" "" "" "" "" "0" "" "" "" "" "00283969" "" "" "" "1" "" "00004" "{PMID:Trarbach 2006:16882753}" "" "" "" "" "" "0" "" "" "" "" "00283970" "" "" "" "1" "" "00004" "{PMID:Albuisson 2005:15605412}" "" "" "" "" "" "0" "" "" "" "" "00283971" "" "" "" "1" "" "00004" "{PMID:Costa-Barbosa 2013:23533228}" "" "" "" "" "" "0" "" "" "" "" "00283972" "" "" "" "1" "" "00004" "{PMID:Riley 2007:17360555}, {PMID:Marcos 2014:25077900}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283973" "" "" "" "1" "" "00004" "{PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283974" "" "" "" "1" "" "00004" "{PMID:Sarfati 2010:20022991}" "" "" "" "" "" "0" "" "" "" "" "00283975" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2006:16764984}, {PMID:Miraoui 2013:23643382}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283976" "" "" "" "1" "" "00004" "{PMID:Izumi 2014:25064402}" "" "" "" "" "" "0" "" "" "" "" "00283977" "" "" "" "1" "" "00004" "{PMID:Sarfati 2013:24031091}" "" "" "" "" "" "0" "" "" "" "" "00283978" "" "" "" "1" "" "00004" "{PMID:Tommiska 2014:24732674}" "" "" "" "" "" "0" "" "" "" "" "00283979" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283980" "" "" "" "1" "" "00004" "{PMID:Albuisson 2005:15605412}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00283981" "" "" "" "1" "" "00004" "{PMID:Sykiotis 2010:20696889}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00283982" "" "" "" "1" "" "00004" "{PMID:Tommiska 2014:24732674}" "" "" "" "" "" "0" "" "" "" "" "00283983" "" "" "" "1" "" "00004" "{PMID:Costa-Barbosa 2013:23533228}" "" "" "" "" "" "0" "" "" "" "" "00283984" "" "" "" "1" "" "00004" "{PMID:Simonis 2013:23812909}" "" "" "" "" "" "0" "" "" "" "" "00283985" "" "" "" "1" "" "00004" "{PMID:Balasubramanian 1993:20301509}, {PMID:Laitinen 2011:21682876}, {PMID:Vizeneux 2013:24204987}" "" "" "" "" "" "0" "" "" "" "" "00283986" "" "" "" "1" "" "00004" "{PMID:Raivio 2012:22319038}" "" "" "" "" "" "0" "" "" "" "" "00283987" "" "" "" "1" "" "00004" "{PMID:Costa-Barbosa 2013:23533228}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00283988" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00283989" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2007:17235395}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}, {PMID:Sykiotis 2010:20696889}" "" "" "" "" "" "0" "" "" "" "" "00283990" "" "" "" "1" "" "00004" "{PMID:Riley 2007:17360555}" "" "" "" "" "" "0" "" "" "" "" "00283991" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}" "" "" "" "" "" "0" "" "" "" "" "00283992" "" "" "" "1" "" "00004" "{PMID:Novo 2012:22751423}" "" "" "" "" "" "0" "" "" "" "" "00283993" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00283994" "" "" "" "1" "" "00004" "{PMID:Raivio 2012:22319038}" "" "" "" "" "" "0" "" "" "" "" "00283995" "" "" "" "1" "" "00004" "{PMID:Shaw 2011:21209029}" "" "" "" "" "" "0" "" "" "" "" "00283996" "" "" "" "1" "" "00004" "{PMID:Sato 2006:16418210}" "" "" "" "" "" "0" "" "" "" "" "00283997" "" "" "" "1" "" "00004" "{PMID:Laitinen 2011:21682876}" "" "" "" "" "" "0" "" "" "" "" "00283998" "" "" "" "1" "" "00004" "{PMID:Sykiotis 2010:20696889}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00283999" "" "" "" "1" "" "00004" "{PMID:Costa-Barbosa 2013:23533228}" "" "" "" "" "" "0" "" "" "" "" "00284000" "" "" "" "1" "" "00004" "{PMID:Sykiotis 2010:20696889}, {PMID:Miraoui 2013:23643382}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00284001" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}" "" "" "" "" "" "0" "" "" "" "" "00284002" "" "" "" "1" "" "00004" "{PMID:Farrow 2006:16470795}, {PMID:Beighton 1980:7422392}, {PMID:White 2005:15625620}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284003" "" "" "" "1" "" "00004" "{PMID:White 2005:15625620}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284004" "" "" "" "1" "" "00004" "{PMID:Riley 2007:17360555}" "" "" "" "" "" "0" "" "" "" "" "00284005" "" "" "" "1" "" "00004" "{PMID:Zhu 2015:25636053}, {PMID:Trarbach 2006:16882753}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284006" "" "" "" "1" "" "00004" "{PMID:Albuisson 2005:15605412}" "" "" "" "" "" "0" "" "" "" "" "00284007" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284008" "" "" "" "1" "" "00004" "{PMID:Dodé 2007:17154279}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00284009" "" "" "" "1" "" "00004" "{PMID:Costa-Barbosa 2013:23533228}" "" "" "" "" "" "0" "" "" "" "" "00284010" "" "" "" "1" "" "00004" "{PMID:Costa-Barbosa 2013:23533228}" "" "" "" "" "" "0" "" "" "" "" "00284011" "" "" "" "1" "" "00004" "{PMID:Bailleul-Forestier 2010:20536592}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00284012" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284013" "" "" "" "1" "" "00004" "{PMID:Sykiotis 2010:20696889}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00284014" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00284015" "" "" "" "1" "" "00004" "{PMID:Zhu 2015:25636053}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "" "" "0" "" "" "" "" "00284016" "" "" "" "1" "" "00004" "{PMID:Trarbach 2006:16882753}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284017" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2007:17235395}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00284018" "" "" "" "1" "" "00004" "{PMID:Bailleul-Forestier 2010:20536592}" "" "" "" "" "" "0" "" "" "" "" "00284019" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}" "" "" "" "" "" "0" "" "" "" "" "00284020" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284021" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00284022" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284023" "" "" "" "1" "" "00004" "{PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284024" "" "" "" "1" "" "00004" "{PMID:White 2005:15625620}, {PMID:Farrow 2006:16470795}, {PMID:Riminucci 2003:12952917}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284025" "" "" "" "1" "" "00004" "{PMID:Shaw 2011:21209029}" "" "" "" "" "" "0" "" "" "" "" "00284026" "" "" "" "1" "" "00004" "{PMID:Dodé 2007:17154279}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00284027" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}" "" "" "" "" "" "0" "" "" "" "" "00284028" "" "" "" "1" "" "00004" "{PMID:Laitinen 2011:21682876}" "" "" "" "" "" "0" "" "" "" "" "00284029" "" "" "" "1" "" "00004" "{PMID:Dodé 2003:12627230}" "" "" "" "" "" "0" "" "" "" "" "00284030" "" "" "" "1" "" "00004" "{PMID:Costa-Barbosa 2013:23533228}" "" "" "" "" "" "0" "" "" "" "" "00284031" "" "" "" "1" "" "00004" "{PMID:Hurley 2004:14513299}, {PMID:Kress 2000:11173846}, {PMID:Huang 2005:15793702}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284032" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284033" "" "" "" "1" "" "00004" "{PMID:Shaw 2011:21209029}" "" "" "" "" "" "0" "" "" "" "" "00284034" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284035" "" "" "" "1" "" "00004" "{PMID:Sykiotis 2010:20696889}" "" "" "" "" "" "0" "" "" "" "" "00284036" "" "" "" "1" "" "00004" "{PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284037" "" "" "" "1" "" "00004" "{PMID:Bailleul-Forestier 2010:20536592}" "" "" "" "" "" "0" "" "" "" "" "00284038" "" "" "" "1" "" "00004" "{PMID:Costa-Barbosa 2013:23533228}" "" "" "" "" "" "0" "" "" "" "" "00284039" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284040" "" "" "" "1" "" "00004" "{PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284041" "" "" "" "1" "" "00004" "{PMID:Zhu 2015:25636053}, {PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00284042" "" "" "" "1" "" "00004" "{PMID:Albuisson 2005:15605412}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00284043" "" "" "" "1" "" "00004" "{PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284044" "" "" "" "1" "" "00004" "{PMID:Balasubramanian 1993:20301509}, {PMID:Laitinen 2011:21682876}, {PMID:Vizeneux 2013:24204987}" "" "" "" "" "" "0" "" "" "" "" "00284045" "" "" "" "1" "" "00004" "{PMID:Caronia 2011:21247312}" "" "" "" "" "" "0" "" "" "" "" "00284046" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2006:16764984}, {PMID:Miraoui 2013:23643382}, {PMID:Koika 2013:23276709}" "" "" "" "" "" "0" "" "" "" "" "00284047" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}, {PMID:Koika 2013:23276709}" "" "" "" "" "" "0" "" "" "" "" "00284048" "" "" "" "1" "" "00004" "{PMID:Robin 1993:20301628}, {PMID:Roscioli 2000:10861678}, {PMID:Muenke 1994:7874169}, {PMID:Ibrahimi 2004:14613973}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284049" "" "" "" "1" "" "00004" "{PMID:Iglesias 2014:24901346}" "" "" "" "" "" "0" "" "" "" "" "00284050" "" "" "" "1" "" "00004" "{PMID:Raivio 2009:19820032}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}, {PMID:Falardeau 2008:18596921}, {PMID:Sykiotis 2010:20696889}" "" "" "" "" "" "0" "" "" "" "" "00284051" "" "" "" "1" "" "00004" "{PMID:Trarbach 2006:16882753}" "" "" "" "" "" "0" "" "" "" "" "00284052" "" "" "" "1" "" "00004" "{PMID:Trarbach 2006:16882753}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284053" "" "" "" "1" "" "00004" "{PMID:Raivio 2009:19820032}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00284054" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00284055" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2006:16606836}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00284056" "" "" "" "1" "" "00004" "{PMID:Raivio 2009:19820032}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00284057" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284058" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284059" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284060" "" "" "" "1" "" "00004" "{PMID:Laitinen 2011:21682876}" "" "" "" "" "" "0" "" "" "" "" "00284061" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}" "" "" "" "" "" "0" "" "" "" "" "00284062" "" "" "" "1" "" "00004" "{PMID:Sykiotis 2010:20696889}" "" "" "" "" "" "0" "" "" "" "" "00284063" "" "" "" "1" "" "00004" "{PMID:Simonis 2013:23812909}" "" "" "" "" "" "0" "" "" "" "" "00284064" "" "" "" "1" "" "00004" "{PMID:Doknic 2012:22801565}" "" "" "" "" "" "0" "" "" "" "" "00284065" "" "" "" "1" "" "00004" "{PMID:Balasubramanian 1993:20301509}, {PMID:Laitinen 2011:21682876}" "" "" "" "" "" "0" "" "" "" "" "00284066" "" "" "" "1" "" "00004" "{PMID:Zenaty 2006:16757108}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284067" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284068" "" "" "" "1" "" "00004" "{PMID:Shaw 2011:21209029}" "" "" "" "" "" "0" "" "" "" "" "00284069" "" "" "" "1" "" "00004" "{PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}, {PMID:Thurman 2012:22842457}" "" "" "" "" "" "0" "" "" "" "" "00284070" "" "" "" "1" "" "00004" "{PMID:Simonis 2013:23812909}, {PMID:Solomon 1993:20301702}, {PMID:Vilain 2009:19504604}" "" "" "" "" "" "0" "" "" "" "" "00284071" "" "" "" "1" "" "00004" "{PMID:Jarzabek 2012:23154428}" "" "" "" "" "" "0" "" "" "" "" "00284072" "" "" "" "1" "" "00004" "{PMID:Balasubramanian 1993:20301509}, {PMID:Laitinen 2011:21682876}, {PMID:Vizeneux 2013:24204987}" "" "" "" "" "" "0" "" "" "" "" "00284073" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}" "" "" "" "" "" "0" "" "" "" "" "00284074" "" "" "" "1" "" "00004" "{PMID:Costa-Barbosa 2013:23533228}" "" "" "" "" "" "0" "" "" "" "" "00284075" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284076" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284077" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284078" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284079" "" "" "" "1" "" "00004" "{PMID:Albuisson 2005:15605412}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284080" "" "" "" "1" "" "00004" "{PMID:Raivio 2009:19820032}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00284081" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}" "" "" "" "" "" "0" "" "" "" "" "00284082" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284083" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}" "" "" "" "" "" "0" "" "" "" "" "00284084" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}" "" "" "" "" "" "0" "" "" "" "" "00284085" "" "" "" "1" "" "00004" "{PMID:Sato 2004:15001591}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00284086" "" "" "" "1" "" "00004" "{PMID:Izumi 2014:25064402}" "" "" "" "" "" "0" "" "" "" "" "00284087" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284088" "" "" "" "1" "" "00004" "{PMID:Dodé 2003:12627230}" "" "" "" "" "" "0" "" "" "" "" "00284089" "" "" "" "1" "" "00004" "{PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284090" "" "" "" "1" "" "00004" "{PMID:Quaynor 2011:22035731}" "" "" "" "" "" "0" "" "" "" "" "00284091" "" "" "" "1" "" "00004" "{PMID:Zhu 2015:25636053}, {PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}, {PMID:Raivio 2009:19820032}, {PMID:Sykiotis 2010:20696889}" "" "" "" "" "" "0" "" "" "" "" "00284092" "" "" "" "1" "" "00004" "{PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284093" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}" "" "" "" "" "" "0" "" "" "" "" "00284094" "" "" "" "1" "" "00004" "{PMID:Vizeneux 2013:24204987}" "" "" "" "" "" "0" "" "" "" "" "00284095" "" "" "" "1" "" "00004" "{PMID:Shaw 2011:21209029}, {PMID:Entrala-Bernal 2014:24776628}, {PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284096" "" "" "" "1" "" "00004" "{PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "" "" "0" "" "" "" "" "00284097" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}, {PMID:Rajith 2013:23329143}" "" "" "" "" "" "0" "" "" "" "" "00284098" "" "" "" "1" "" "00004" "{PMID:Shaw 2011:21209029}" "" "" "" "" "" "0" "" "" "" "" "00284099" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00284100" "" "" "" "1" "" "00004" "{PMID:Shaw 2011:21209029}" "" "" "" "" "" "0" "" "" "" "" "00284101" "" "" "" "1" "" "00004" "{PMID:Laitinen 2011:21682876}, {PMID:Balasubramanian 1993:20301509}, {PMID:Trarbach 2006:16882753}, {PMID:Rajith 2013:23329143}, {PMID:Hero 2015:24841555}" "" "" "" "" "" "0" "" "" "" "" "00284102" "" "" "" "1" "" "00004" "{PMID:Laitinen 2012:22724017}" "" "" "" "" "" "0" "" "" "" "" "00284103" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}" "" "" "" "" "" "0" "" "" "" "" "00284104" "" "" "" "1" "" "00004" "{PMID:Qin 2014:25619354}" "" "" "" "" "" "0" "" "" "" "" "00284105" "" "" "" "1" "" "00004" "{PMID:Dodé 2009:18985070}" "" "" "" "" "" "0" "" "" "" "" "00284106" "" "" "" "1" "" "00004" "{PMID:Laitinen 2011:21682876}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00284107" "" "" "" "1" "" "00004" "{PMID:Marcos 2014:25077900}" "" "" "" "" "" "0" "" "" "" "" "00294630" "" "" "" "38" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294631" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316114" "" "" "" "3" "" "00006" "{PMID:Heidet 2017:28566479}" "affected patient, 1st degree relative and uncle/aunt/cousin" "" "" "France" "" "0" "" "" "" "K162" "00319923" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Pakistan" "" "0" "" "" "Punjabi" "PKMR61b" "00324285" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00379762" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0109" "00443409" "" "" "" "2" "" "00006" "{PMID:Yao 2023:37833774}" "2-generation family, affected mother/son" "F;M" "" "China" "" "0" "" "" "" "Fam1" "00443410" "" "" "" "2" "" "00006" "{PMID:Yao 2023:37833774}" "3-generation family, affected father/son" "M" "" "Germany" "" "0" "" "" "" "Fam2" "00458113" "" "" "" "2" "" "04663" "{PMID:Graziani 2024:38679587}" "2-generation family, 2 affected (2M), unaffected heterozygous carrier parent" "M" "no" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 220 "{{individualid}}" "{{diseaseid}}" "00037765" "00651" "00065246" "00198" "00065248" "00198" "00065250" "00198" "00065253" "00198" "00065254" "00198" "00081732" "05198" "00091783" "00632" "00094957" "00651" "00095072" "00651" "00095073" "00651" "00095074" "00651" "00104944" "05284" "00174403" "04473" "00226336" "05093" "00226338" "05093" "00231467" "05597" "00283914" "05420" "00283915" "05420" "00283916" "05420" "00283917" "00198" "00283918" "05420" "00283919" "05420" "00283920" "05420" "00283921" "05420" "00283922" "00198" "00283923" "00198" "00283924" "05420" "00283925" "05420" "00283926" "05420" "00283927" "05420" "00283928" "00198" "00283929" "00198" "00283930" "05420" "00283931" "00198" "00283932" "05420" "00283933" "05420" "00283934" "05420" "00283935" "05420" "00283936" "05420" "00283937" "05420" "00283938" "00198" "00283939" "05420" "00283940" "05420" "00283941" "05420" "00283942" "05420" "00283943" "05420" "00283944" "05420" "00283945" "00198" "00283946" "05420" "00283947" "05420" "00283948" "00198" "00283949" "00198" "00283950" "05420" "00283951" "05420" "00283952" "05420" "00283953" "05420" "00283954" "05420" "00283955" "05420" "00283956" "05420" "00283957" "00198" "00283958" "00198" "00283959" "05420" "00283960" "00198" "00283961" "00198" "00283962" "00198" "00283963" "00198" "00283964" "05420" "00283965" "05420" "00283966" "05420" "00283967" "05420" "00283968" "00198" "00283969" "05420" "00283970" "05420" "00283971" "05420" "00283972" "00198" "00283973" "05420" "00283974" "05420" "00283975" "05420" "00283976" "05420" "00283977" "05420" "00283978" "00198" "00283979" "05420" "00283980" "05420" "00283981" "00198" "00283982" "00198" "00283983" "05420" "00283984" "00198" "00283985" "05420" "00283986" "00198" "00283987" "05420" "00283988" "05420" "00283989" "00198" "00283990" "00198" "00283991" "05420" "00283992" "05420" "00283993" "05420" "00283994" "00198" "00283995" "00198" "00283996" "05420" "00283997" "05420" "00283998" "05420" "00283999" "05420" "00284000" "00198" "00284001" "05420" "00284002" "00198" "00284003" "00198" "00284004" "00198" "00284005" "05420" "00284006" "05420" "00284007" "05420" "00284008" "05420" "00284009" "05420" "00284010" "05420" "00284011" "05420" "00284012" "05420" "00284013" "05420" "00284014" "05420" "00284015" "05420" "00284016" "05420" "00284017" "05420" "00284018" "05420" "00284019" "05420" "00284020" "05420" "00284021" "05420" "00284022" "05420" "00284023" "05420" "00284024" "00198" "00284025" "00198" "00284026" "05420" "00284027" "05420" "00284028" "05420" "00284029" "05420" "00284030" "05420" "00284031" "00198" "00284032" "05420" "00284033" "00198" "00284034" "05420" "00284035" "05420" "00284036" "05420" "00284037" "05420" "00284038" "05420" "00284039" "05420" "00284040" "05420" "00284041" "05420" "00284042" "05420" "00284043" "05420" "00284044" "05420" "00284045" "00198" "00284046" "05420" "00284047" "05420" "00284048" "00526" "00284049" "05420" "00284050" "00198" "00284051" "05420" "00284052" "05420" "00284053" "00198" "00284054" "05420" "00284055" "00198" "00284056" "00198" "00284057" "05420" "00284058" "05420" "00284059" "05420" "00284060" "05420" "00284061" "05420" "00284062" "05420" "00284063" "00198" "00284064" "05420" "00284065" "05420" "00284066" "05420" "00284067" "05420" "00284068" "00198" "00284069" "05420" "00284070" "00198" "00284071" "05420" "00284072" "05420" "00284073" "05420" "00284074" "05420" "00284075" "05420" "00284076" "05420" "00284077" "05420" "00284078" "05420" "00284079" "05420" "00284080" "00198" "00284081" "05420" "00284082" "05420" "00284083" "05420" "00284084" "05420" "00284085" "05420" "00284086" "00198" "00284087" "05420" "00284088" "05420" "00284089" "05420" "00284090" "00198" "00284091" "05420" "00284092" "05420" "00284093" "05420" "00284094" "05420" "00284095" "00198" "00284096" "05420" "00284097" "05420" "00284098" "00198" "00284099" "05420" "00284100" "00198" "00284101" "05420" "00284102" "05420" "00284103" "05420" "00284104" "00198" "00284105" "05420" "00284106" "05420" "00284107" "05420" "00294630" "00198" "00294631" "00198" "00316114" "05342" "00319923" "00139" "00324285" "00651" "00379762" "03839" "00443409" "00198" "00443410" "00198" "00458113" "00438" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00438, 00526, 00632, 00650, 00651, 00652, 00653, 01388, 03839, 04473, 05093, 05192, 05198, 05284, 05342, 05420, 05597 ## Count = 217 "{{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/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000051353" "00198" "00065246" "01606" "Isolated (sporadic)" "07y" "no cognitive impairment (-HP:0100543), no seizures (HP:0001250), Intracranial lipomas (HP:0100251), no spinal lipomas (-HP:0100251), Astrocytoma (HP:0009592), Nevus psiloliparus, Alopecia (HP:0001596), Subcutaneous lipoma (HP:0001031), Aplasia cutis congenita of scalp (HP:0007385), Skin tags (HP:0010609), Choristoma, no coloboma (-HP:0000589)," "" "" "" "" "" "" "" "" "" "" "Encephalocraniocutaneous lipomatosis (ECCL)" "" "0000051355" "00198" "00065248" "01606" "Isolated (sporadic)" "15y" "Neurocognitive function delay (HP:0001263), seizures (HP:0001250), Intracranial lipomas (HP:0100251), Tectal tumor (HP:0010796), Left temporal cortical dysplasia (HP:0002539), Nevus psiloliparus, Alopecia (HP:0001596), Subcutaneous lipoma (HP:0001031), Aplasia cutis congenita of scalp (HP:0007385), Skin tags (HP:0010609), Choristoma, Coloboma (HP:0000589)" "" "" "" "" "" "" "" "" "" "" "encephalocraniocutaneous lipomatosis (ECCL)" "" "0000051357" "00198" "00065250" "01606" "Isolated (sporadic)" "00y17m" "no cognitive impairment (-HP:0100543), no seizures (-HP:0001250), Intracranial lipomas (HP:0100251), spinal lipomas (HP:0100251), Nevus psiloliparus, Alopecia (HP:0001596), Subcutaneous lipoma (HP:0001031), Aplasia cutis congenita of scalp (HP:0007385), Skin tags (HP:0010609), Choristoma, Coloboma (HP:0000589)" "" "" "" "" "" "" "" "" "" "" "Encephalocraniocutaneous lipomatosis (ECCL)" "" "0000051359" "00198" "00065253" "01606" "Isolated (sporadic)" "02y08m" "no cognitive impairment (-HP:0100543), no seizures (HP:0001250), no intracranial lipomas (-HP:0100251), no spinal lipomas (-HP:0100251), Astrocytoma (HP:0009592), Nevus psiloliparus, Alopecia (HP:0001596), Subcutaneous lipoma (HP:0001031), Aplasia cutis congenita of scalp (HP:0007385), Skin tags (HP:0010609), no choristoma, no coloboma (-HP:0000589)" "" "" "" "" "" "" "" "" "" "" "Encephalocraniocutaneous lipomatosis (ECCL)" "" "0000051360" "00198" "00065254" "01606" "Isolated (sporadic)" "05y" "no cognitive impairment (-HP:0100543), no seizures (-HP:0001250), Intracranial lipomas (HP:0100251), no spinal lipomas (-HP:0100251), Nevus psiloliparus, Alopecia (HP:0001596), Subcutaneous lipoma (HP:0001031), no aplasia cutis congenita of scalp (-HP:0007385), Skin tags (HP:0010609), Choristoma, no coloboma (-HP:0000589)" "" "" "" "" "" "" "" "" "" "" "Encephalocraniocutaneous lipomatosis (ECCL)" "" "0000061013" "00651" "00037765" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061375" "05198" "00081732" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070613" "00632" "00091783" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000073457" "00651" "00095072" "01861" "Isolated (sporadic)" "17y" "Split hand foot malformation\r\nHypogonadotripic hypogonadism" "" "" "" "" "" "" "" "" "" "" "" "" "0000073458" "00651" "00095073" "01861" "Unknown" "34y" "Split hand hoot malformation\r\nHypogonadtropic hypogonadism" "" "" "" "" "" "" "" "" "" "" "" "" "0000073459" "00651" "00095074" "01861" "Familial, autosomal dominant" "00y" "Split hand foot malformation\r\nHypogonadotropic hypogonadism" "" "" "" "" "" "" "" "" "" "" "" "" "0000073473" "00651" "00094957" "01861" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082943" "05284" "00104944" "02034" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139241" "04473" "00174403" "02544" "Isolated (sporadic)" "12y" "Holoprosencephaly (HPE) spectrum disorderslobar HPE (Lobar), HP:0001360, HP:0006870; corpus callosum (parzial Agenesia), HP:0001273; ectrodactyly spectrum disorders (Foot/ Right/Left), HP:0100257, HP:0001839; abnormal genitalia (Micropenis, Cryptorchidism), HP:0000811, HP:0000054, HP:0000028; central diabetes insipidus, HP:0000863; developmental delay/intellectual disability (mild), HP:0012758, HP:0001249" "" "" "" "" "" "" "" "" "" "" "" "" "0000171470" "05093" "00226336" "03224" "Unknown" "" "dysembryoplastic neuroepithelial tumour" "" "" "" "" "" "" "" "" "" "" "dysembryoplastic neuroepithelial tumour" "" "0000171471" "05093" "00226338" "03224" "Unknown" "" "dysembryoplastic neuroepithelial tumour" "" "" "" "" "" "" "" "" "" "" "dysembryoplastic neuroepithelial tumour" "" "0000173858" "05597" "00231467" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000216903" "00198" "00283917" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216904" "00198" "00283922" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypothalamic amenorrhea" "" "0000216905" "00198" "00283923" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "GnRH deficiency" "" "0000216906" "00198" "00283928" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "GnRH deficiency" "" "0000216907" "00198" "00283929" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hartsfield syndrome" "" "0000216908" "00198" "00283931" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216909" "00198" "00283938" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216910" "00198" "00283945" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216911" "00198" "00283948" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216912" "00198" "00283949" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216913" "00198" "00283957" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism" "" "0000216914" "00198" "00283958" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "GnRH deficiency" "" "0000216915" "00198" "00283960" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "GnRH deficiency" "" "0000216916" "00198" "00283961" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hartsfield syndrome" "" "0000216917" "00198" "00283962" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hartsfield syndrome" "" "0000216918" "00198" "00283963" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hartsfield syndrome" "" "0000216919" "00198" "00283968" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216920" "00198" "00283972" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Cleft lip and palate" "" "0000216921" "00198" "00283978" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism" "" "0000216922" "00198" "00283981" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216923" "00198" "00283982" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism" "" "0000216924" "00198" "00283984" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hartsfield syndrome" "" "0000216925" "00198" "00283986" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Septic-optic dysplasia" "" "0000216926" "00198" "00283989" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216927" "00198" "00283990" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Cleft lip and palate" "" "0000216928" "00198" "00283994" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Septic-optic dysplasia" "" "0000216929" "00198" "00283995" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "GnRH deficiency" "" "0000216930" "00198" "00284000" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216931" "00198" "00284002" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Osteoglophonic dysplasia" "" "0000216932" "00198" "00284003" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Osteoglophonic dysplasia" "" "0000216933" "00198" "00284004" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Cleft lip and palate" "" "0000216934" "00198" "00284024" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Osteoglophonic dysplasia" "" "0000216935" "00198" "00284025" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "GnRH deficiency" "" "0000216936" "00198" "00284031" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Non-syndromic trigonocephaly" "" "0000216937" "00198" "00284033" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "GnRH deficiency" "" "0000216938" "00198" "00284045" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypothalamic amenorrhea" "" "0000216939" "00198" "00284050" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216940" "00198" "00284053" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216941" "00198" "00284055" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216942" "00198" "00284056" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216943" "00198" "00284063" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hartsfield syndrome" "" "0000216944" "00198" "00284068" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "GnRH deficiency" "" "0000216945" "00198" "00284070" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hartsfield syndrome" "" "0000216946" "00198" "00284080" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216947" "00198" "00284086" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216948" "00198" "00284090" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000216949" "00198" "00284095" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "GnRH deficiency" "" "0000216950" "00198" "00284098" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "GnRH deficiency" "" "0000216951" "00198" "00284100" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "GnRH deficiency" "" "0000216952" "00198" "00284104" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism, idiopathic" "" "0000217796" "00526" "00284048" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Pfeiffer syndrome" "" "0000218746" "05420" "00283914" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218747" "05420" "00283915" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218748" "05420" "00283916" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218749" "05420" "00283918" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218750" "05420" "00283919" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218751" "05420" "00283920" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218752" "05420" "00283921" "00008" "Unknown" "" "hypogonadotropic hypogonadism 2 without anosmia" "" "" "" "" "" "" "" "" "" "type 2" "Kallmann syndrome" "" "0000218753" "05420" "00283924" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218754" "05420" "00283925" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218755" "05420" "00283926" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218756" "05420" "00283927" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218757" "05420" "00283930" "00008" "Unknown" "" "hypogonadotropic hypogonadism 2 without anosmia, suceptibility to" "" "" "" "" "" "" "" "" "" "type 2" "Kallmann syndrome" "" "0000218758" "05420" "00283932" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218759" "05420" "00283933" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218760" "05420" "00283934" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218761" "05420" "00283935" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218762" "05420" "00283936" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218763" "05420" "00283937" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218764" "05420" "00283939" "00008" "Unknown" "" "hyposmia ; isolated hypogonadotropic hypogonadism" "" "" "" "" "" "" "" "" "" "type 2" "Kallmann syndrome" "" "0000218765" "05420" "00283940" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218766" "05420" "00283941" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218767" "05420" "00283942" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218768" "05420" "00283943" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218769" "05420" "00283944" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218770" "05420" "00283946" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218771" "05420" "00283947" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218772" "05420" "00283950" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218773" "05420" "00283951" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218774" "05420" "00283952" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218775" "05420" "00283953" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218776" "05420" "00283954" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218777" "05420" "00283955" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218778" "05420" "00283956" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218779" "05420" "00283959" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218780" "05420" "00283964" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218781" "05420" "00283965" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218782" "05420" "00283966" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218783" "05420" "00283967" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218784" "05420" "00283969" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218785" "05420" "00283970" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218786" "05420" "00283971" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218787" "05420" "00283973" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218788" "05420" "00283974" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218789" "05420" "00283975" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218790" "05420" "00283976" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218791" "05420" "00283977" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218792" "05420" "00283979" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218793" "05420" "00283980" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218794" "05420" "00283983" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218795" "05420" "00283985" "00008" "Unknown" "" "hyposmia ; isolated hypogonadotropic hypogonadism" "" "" "" "" "" "" "" "" "" "type 2" "Kallmann syndrome" "" "0000218796" "05420" "00283987" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218797" "05420" "00283988" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218798" "05420" "00283991" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218799" "05420" "00283992" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218800" "05420" "00283993" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218801" "05420" "00283996" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218802" "05420" "00283997" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218803" "05420" "00283998" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218804" "05420" "00283999" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218805" "05420" "00284001" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218806" "05420" "00284005" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218807" "05420" "00284006" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218808" "05420" "00284007" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218809" "05420" "00284008" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218810" "05420" "00284009" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218811" "05420" "00284010" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218812" "05420" "00284011" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218813" "05420" "00284012" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218814" "05420" "00284013" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218815" "05420" "00284014" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218816" "05420" "00284015" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218817" "05420" "00284016" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218818" "05420" "00284017" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218819" "05420" "00284018" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218820" "05420" "00284019" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218821" "05420" "00284020" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218822" "05420" "00284021" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218823" "05420" "00284022" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218824" "05420" "00284023" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218825" "05420" "00284026" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218826" "05420" "00284027" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218827" "05420" "00284028" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218828" "05420" "00284029" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218829" "05420" "00284030" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218830" "05420" "00284032" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218831" "05420" "00284034" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218832" "05420" "00284035" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218833" "05420" "00284036" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218834" "05420" "00284037" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218835" "05420" "00284038" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218836" "05420" "00284039" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218837" "05420" "00284040" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218838" "05420" "00284041" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218839" "05420" "00284042" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218840" "05420" "00284043" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218841" "05420" "00284044" "00008" "Unknown" "" "normosmia ; isolated hypogonadotropic hypogonadism" "" "" "" "" "" "" "" "" "" "type 2" "Kallmann syndrome" "" "0000218842" "05420" "00284046" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218843" "05420" "00284047" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218844" "05420" "00284049" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218845" "05420" "00284051" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218846" "05420" "00284052" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218847" "05420" "00284054" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218848" "05420" "00284057" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218849" "05420" "00284058" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218850" "05420" "00284059" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218851" "05420" "00284060" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218852" "05420" "00284061" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218853" "05420" "00284062" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218854" "05420" "00284064" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218855" "05420" "00284065" "00008" "Unknown" "" "normosmia" "" "" "" "" "" "" "" "" "" "type 2" "Kallmann syndrome" "" "0000218856" "05420" "00284066" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218857" "05420" "00284067" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218858" "05420" "00284069" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218859" "05420" "00284071" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218860" "05420" "00284072" "00008" "Unknown" "" "hyposmia ; isolated hypogonadotropic hypogonadism" "" "" "" "" "" "" "" "" "" "type 2" "Kallmann syndrome" "" "0000218861" "05420" "00284073" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218862" "05420" "00284074" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218863" "05420" "00284075" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218864" "05420" "00284076" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218865" "05420" "00284077" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218866" "05420" "00284078" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218867" "05420" "00284079" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218868" "05420" "00284081" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218869" "05420" "00284082" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218870" "05420" "00284083" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218871" "05420" "00284084" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218872" "05420" "00284085" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218873" "05420" "00284087" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218874" "05420" "00284088" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218875" "05420" "00284089" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218876" "05420" "00284091" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218877" "05420" "00284092" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218878" "05420" "00284093" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218879" "05420" "00284094" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218880" "05420" "00284096" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218881" "05420" "00284097" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218882" "05420" "00284099" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218883" "05420" "00284101" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218884" "05420" "00284102" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218885" "05420" "00284103" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218886" "05420" "00284105" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218887" "05420" "00284106" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000218888" "05420" "00284107" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kallmann syndrome" "" "0000239861" "05342" "00316114" "00006" "Unknown" "" "renal hypoplasia; vesico-ureteral reflux; palate clee , preauticular pit" "" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000242025" "00139" "00319923" "00006" "Familial, autosomal recessive" "" "intellectual disability, physically weak, deafness and speech problem" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000273616" "03839" "00379762" "03508" "Familial, autosomal dominant" "" "HP:0001123,\tHP:0000639,\tHP:0030515,\tHP:0000480" "" "" "" "" "" "" "" "" "" "" "Phenotype information related to dystrophy, retinal, iris coloboma, and comedogenic acne syndrome (RDCCAS)" "" "0000332750" "00198" "00443409" "00006" "Familial, autosomal recessive" "" "see paper; ..., non-syndromic tooth agenesis, absence 12 permanent teeth (two maxillary lateral incisors, four canines, two mandibular central incisors, four second premolars; mother milder phenotype with congenital absence two permanent teeth (maxillary canines)" "" "" "" "" "" "" "" "" "" "" "tooth agenesis" "" "0000332751" "00198" "00443410" "00006" "Familial, autosomal dominant" "" "see paper; ..., non-syndromic tooth agenensis; son congenitally missing eight permanent teeth; father congenitally missing six congenitally permanent teeth; son mild hypertelorism, relatively large mouth, auricular dysplasia, hearing impairment, learning disabilities, while his father vision loss" "" "" "" "" "" "" "" "" "" "" "tooth agenesis" "" "0000346558" "00438" "00458113" "04663" "Familial, autosomal dominant" "" "Holoprosencephaly" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 220 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037998" "00037765" "1" "01284" "01284" "2015-05-04 10:51:20" "" "" "SEQ" "DNA" "Blood" "" "0000065398" "00065246" "1" "01606" "01606" "2016-05-24 11:24:16" "00006" "2016-10-11 13:36:28" "SEQ;SEQ-NG" "DNA" "brain tumor, scalp nevus" "" "0000065400" "00065248" "1" "01606" "01606" "2016-05-24 11:53:57" "00006" "2016-10-11 13:18:24" "SEQ;SEQ-NG" "DNA" "scalp nevus, unaffected tissue" "" "0000065402" "00065250" "1" "01606" "01606" "2016-05-24 12:02:59" "00006" "2016-10-11 13:30:21" "SEQ;SEQ-NG" "DNA" "scalp nevus, skin" "" "0000065404" "00065253" "1" "01606" "01606" "2016-05-24 12:10:36" "00006" "2016-10-11 13:38:42" "SEQ;SEQ-NG" "DNA" "scalp nevus, blood" "" "0000065405" "00065254" "1" "01606" "01606" "2016-05-24 12:18:19" "00006" "2016-10-11 13:32:38" "SEQ" "DNA" "scalp nevus, saliva" "" "0000081861" "00081732" "1" "00006" "00006" "2016-10-21 15:10:40" "" "" "SEQ" "DNA" "" "" "0000091925" "00091783" "1" "00008" "00008" "2016-12-15 19:35:13" "00006" "2016-12-17 14:01:04" "SEQ" "DNA" "" "" "0000095358" "00094957" "1" "01861" "01861" "2017-01-05 03:09:24" "" "" "PCR" "DNA" "Peripheral Blood Leukocyte" "" "0000095471" "00095072" "1" "01861" "01861" "2017-01-06 03:48:20" "" "" "PCR" "DNA" "Blood" "" "0000095472" "00095073" "1" "01861" "01861" "2017-01-06 03:59:52" "00006" "2017-01-06 10:24:01" "PCR;RT-PCR;SEQ" "DNA;RNA" "Blood" "" "0000095473" "00095074" "1" "01861" "01861" "2017-01-06 04:25:20" "" "" "arrayCGH" "DNA" "Blood" "" "0000105419" "00104944" "1" "02034" "02034" "2017-06-13 05:00:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000175294" "00174403" "1" "02544" "02544" "2018-08-08 13:21:55" "02544" "2019-01-07 15:58:55" "SEQ" "DNA" "Peripheral blood" "WES" "0000227412" "00226336" "1" "03224" "03224" "2019-03-08 13:09:46" "" "" "SEQ-NG" "DNA" "Brain tissue" "gene panel" "0000227413" "00226338" "1" "03224" "03224" "2019-03-08 13:13:42" "" "" "SEQ-NG" "DNA" "Brain tissue" "gene panel" "0000232566" "00231467" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000285064" "00283914" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285065" "00283915" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285066" "00283916" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285067" "00283917" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285068" "00283918" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285069" "00283919" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285070" "00283920" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285071" "00283921" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285072" "00283922" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285073" "00283923" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285074" "00283924" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285075" "00283925" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285076" "00283926" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285077" "00283927" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285078" "00283928" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285079" "00283929" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285080" "00283930" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285081" "00283931" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285082" "00283932" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285083" "00283933" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285084" "00283934" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285085" "00283935" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285086" "00283936" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285087" "00283937" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285088" "00283938" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285089" "00283939" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285090" "00283940" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285091" "00283941" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285092" "00283942" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285093" "00283943" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285094" "00283944" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285095" "00283945" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285096" "00283946" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285097" "00283947" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285098" "00283948" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285099" "00283949" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285100" "00283950" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285101" "00283951" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285102" "00283952" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285103" "00283953" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285104" "00283954" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285105" "00283955" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285106" "00283956" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285107" "00283957" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285108" "00283958" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285109" "00283959" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285110" "00283960" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285111" "00283961" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285112" "00283962" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285113" "00283963" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285114" "00283964" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285115" "00283965" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285116" "00283966" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285117" "00283967" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285118" "00283968" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285119" "00283969" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285120" "00283970" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285121" "00283971" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285122" "00283972" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285123" "00283973" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285124" "00283974" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285125" "00283975" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285126" "00283976" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285127" "00283977" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285128" "00283978" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285129" "00283979" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285130" "00283980" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285131" "00283981" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285132" "00283982" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285133" "00283983" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285134" "00283984" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285135" "00283985" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285136" "00283986" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285137" "00283987" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285138" "00283988" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285139" "00283989" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285140" "00283990" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285141" "00283991" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285142" "00283992" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285143" "00283993" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285144" "00283994" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285145" "00283995" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285146" "00283996" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285147" "00283997" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285148" "00283998" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285149" "00283999" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285150" "00284000" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285151" "00284001" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285152" "00284002" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285153" "00284003" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285154" "00284004" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285155" "00284005" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285156" "00284006" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285157" "00284007" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285158" "00284008" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285159" "00284009" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285160" "00284010" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285161" "00284011" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285162" "00284012" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285163" "00284013" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285164" "00284014" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285165" "00284015" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285166" "00284016" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285167" "00284017" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285168" "00284018" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285169" "00284019" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285170" "00284020" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285171" "00284021" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285172" "00284022" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285173" "00284023" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285174" "00284024" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285175" "00284025" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285176" "00284026" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285177" "00284027" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285178" "00284028" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285179" "00284029" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285180" "00284030" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285181" "00284031" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285182" "00284032" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285183" "00284033" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285184" "00284034" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285185" "00284035" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285186" "00284036" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285187" "00284037" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285188" "00284038" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285189" "00284039" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285190" "00284040" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285191" "00284041" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285192" "00284042" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285193" "00284043" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285194" "00284044" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285195" "00284045" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285196" "00284046" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285197" "00284047" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285198" "00284048" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285199" "00284049" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285200" "00284050" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285201" "00284051" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285202" "00284052" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285203" "00284053" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285204" "00284054" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285205" "00284055" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285206" "00284056" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285207" "00284057" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285208" "00284058" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285209" "00284059" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285210" "00284060" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285211" "00284061" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285212" "00284062" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285213" "00284063" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285214" "00284064" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285215" "00284065" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285216" "00284066" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285217" "00284067" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285218" "00284068" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285219" "00284069" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285220" "00284070" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285221" "00284071" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285222" "00284072" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285223" "00284073" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285224" "00284074" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285225" "00284075" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285226" "00284076" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285227" "00284077" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285228" "00284078" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285229" "00284079" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285230" "00284080" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285231" "00284081" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285232" "00284082" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285233" "00284083" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285234" "00284084" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285235" "00284085" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285236" "00284086" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285237" "00284087" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285238" "00284088" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285239" "00284089" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285240" "00284090" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285241" "00284091" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285242" "00284092" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285243" "00284093" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285244" "00284094" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285245" "00284095" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285246" "00284096" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285247" "00284097" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285248" "00284098" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285249" "00284099" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285250" "00284100" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285251" "00284101" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285252" "00284102" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285253" "00284103" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285254" "00284104" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285255" "00284105" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285256" "00284106" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285257" "00284107" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000295798" "00294630" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295799" "00294631" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317296" "00316114" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000321104" "00319923" "1" "00006" "00006" "2020-11-10 17:13:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325475" "00324285" "1" "01741" "01741" "2020-12-04 12:45:26" "" "" "SEQ-NG" "DNA" "" "" "0000380963" "00379762" "1" "03508" "03508" "2021-08-09 06:29:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000444898" "00443409" "1" "00006" "00006" "2023-11-26 11:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444899" "00443410" "1" "00006" "00006" "2023-11-26 11:45:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459732" "00458113" "1" "04663" "04663" "2024-12-02 14:56:43" "" "" "SEQ-NG-I" "DNA" "fetal sample" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 217 "{{screeningid}}" "{{geneid}}" "0000037998" "FGFR1" "0000065398" "FGFR1" "0000065400" "FGFR1" "0000065402" "FGFR1" "0000065404" "FGFR1" "0000065405" "FGFR1" "0000081861" "FGFR1" "0000081861" "SEMA3A" "0000091925" "FGFR1" "0000091925" "FGFR2" "0000091925" "POR" "0000095358" "FGFR1" "0000095471" "FGFR1" "0000095472" "FGFR1" "0000175294" "FGFR1" "0000227412" "FGFR1" "0000227413" "FGFR1" "0000232566" "FGFR1" "0000285064" "FGFR1" "0000285065" "FGFR1" "0000285066" "FGFR1" "0000285067" "FGFR1" "0000285068" "FGFR1" "0000285069" "FGFR1" "0000285070" "FGFR1" "0000285071" "FGFR1" "0000285072" "FGFR1" "0000285073" "FGFR1" "0000285074" "FGFR1" "0000285075" "FGFR1" "0000285076" "FGFR1" "0000285077" "FGFR1" "0000285078" "FGFR1" "0000285079" "FGFR1" "0000285080" "FGFR1" "0000285081" "FGFR1" "0000285082" "FGFR1" "0000285083" "FGFR1" "0000285084" "FGFR1" "0000285085" "FGFR1" "0000285086" "FGFR1" "0000285087" "FGFR1" "0000285088" "FGFR1" "0000285089" "FGFR1" "0000285090" "FGFR1" "0000285091" "FGFR1" "0000285092" "FGFR1" "0000285093" "FGFR1" "0000285094" "FGFR1" "0000285095" "FGFR1" "0000285096" "FGFR1" "0000285097" "FGFR1" "0000285098" "FGFR1" "0000285099" "FGFR1" "0000285100" "FGFR1" "0000285101" "FGFR1" "0000285102" "FGFR1" "0000285103" "FGFR1" "0000285104" "FGFR1" "0000285105" "FGFR1" "0000285106" "FGFR1" "0000285107" "FGFR1" "0000285108" "FGFR1" "0000285109" "FGFR1" "0000285110" "FGFR1" "0000285111" "FGFR1" "0000285112" "FGFR1" "0000285113" "FGFR1" "0000285114" "FGFR1" "0000285115" "FGFR1" "0000285116" "FGFR1" "0000285117" "FGFR1" "0000285118" "FGFR1" "0000285119" "FGFR1" "0000285120" "FGFR1" "0000285121" "FGFR1" "0000285122" "FGFR1" "0000285123" "FGFR1" "0000285124" "FGFR1" "0000285125" "FGFR1" "0000285126" "FGFR1" "0000285127" "FGFR1" "0000285128" "FGFR1" "0000285129" "FGFR1" "0000285130" "FGFR1" "0000285131" "FGFR1" "0000285132" "FGFR1" "0000285133" "FGFR1" "0000285134" "FGFR1" "0000285135" "FGFR1" "0000285136" "FGFR1" "0000285137" "FGFR1" "0000285138" "FGFR1" "0000285139" "FGFR1" "0000285140" "FGFR1" "0000285141" "FGFR1" "0000285142" "FGFR1" "0000285143" "FGFR1" "0000285144" "FGFR1" "0000285145" "FGFR1" "0000285146" "FGFR1" "0000285147" "FGFR1" "0000285148" "FGFR1" "0000285149" "FGFR1" "0000285150" "FGFR1" "0000285151" "FGFR1" "0000285152" "FGFR1" "0000285153" "FGFR1" "0000285154" "FGFR1" "0000285155" "FGFR1" "0000285156" "FGFR1" "0000285157" "FGFR1" "0000285158" "FGFR1" "0000285159" "FGFR1" "0000285160" "FGFR1" "0000285161" "FGFR1" "0000285162" "FGFR1" "0000285163" "FGFR1" "0000285164" "FGFR1" "0000285165" "FGFR1" "0000285166" "FGFR1" "0000285167" "FGFR1" "0000285168" "FGFR1" "0000285169" "FGFR1" "0000285170" "FGFR1" "0000285171" "FGFR1" "0000285172" "FGFR1" "0000285173" "FGFR1" "0000285174" "FGFR1" "0000285175" "FGFR1" "0000285176" "FGFR1" "0000285177" "FGFR1" "0000285178" "FGFR1" "0000285179" "FGFR1" "0000285180" "FGFR1" "0000285181" "FGFR1" "0000285182" "FGFR1" "0000285183" "FGFR1" "0000285184" "FGFR1" "0000285185" "FGFR1" "0000285186" "FGFR1" "0000285187" "FGFR1" "0000285188" "FGFR1" "0000285189" "FGFR1" "0000285190" "FGFR1" "0000285191" "FGFR1" "0000285192" "FGFR1" "0000285193" "FGFR1" "0000285194" "FGFR1" "0000285195" "FGFR1" "0000285196" "FGFR1" "0000285197" "FGFR1" "0000285198" "FGFR1" "0000285199" "FGFR1" "0000285200" "FGFR1" "0000285201" "FGFR1" "0000285202" "FGFR1" "0000285203" "FGFR1" "0000285204" "FGFR1" "0000285205" "FGFR1" "0000285206" "FGFR1" "0000285207" "FGFR1" "0000285208" "FGFR1" "0000285209" "FGFR1" "0000285210" "FGFR1" "0000285211" "FGFR1" "0000285212" "FGFR1" "0000285213" "FGFR1" "0000285214" "FGFR1" "0000285215" "FGFR1" "0000285216" "FGFR1" "0000285217" "FGFR1" "0000285218" "FGFR1" "0000285219" "FGFR1" "0000285220" "FGFR1" "0000285221" "FGFR1" "0000285222" "FGFR1" "0000285223" "FGFR1" "0000285224" "FGFR1" "0000285225" "FGFR1" "0000285226" "FGFR1" "0000285227" "FGFR1" "0000285228" "FGFR1" "0000285229" "FGFR1" "0000285230" "FGFR1" "0000285231" "FGFR1" "0000285232" "FGFR1" "0000285233" "FGFR1" "0000285234" "FGFR1" "0000285235" "FGFR1" "0000285236" "FGFR1" "0000285237" "FGFR1" "0000285238" "FGFR1" "0000285239" "FGFR1" "0000285240" "FGFR1" "0000285241" "FGFR1" "0000285242" "FGFR1" "0000285243" "FGFR1" "0000285244" "FGFR1" "0000285245" "FGFR1" "0000285246" "FGFR1" "0000285247" "FGFR1" "0000285248" "FGFR1" "0000285249" "FGFR1" "0000285250" "FGFR1" "0000285251" "FGFR1" "0000285252" "FGFR1" "0000285253" "FGFR1" "0000285254" "FGFR1" "0000285255" "FGFR1" "0000285256" "FGFR1" "0000285257" "FGFR1" "0000317296" "CDC5L" "0000317296" "FGFR1" "0000321104" "FGFR1" "0000321104" "TMEM67" "0000325475" "FGFR1" ## 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 = 395 "{{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}}" "0000065308" "1" "70" "8" "38273580" "38273580" "subst" "0" "01284" "FGFR1_000001" "g.38273580T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.38416062T>A" "" "likely pathogenic" "" "0000097071" "0" "90" "8" "38272308" "38272308" "subst" "0" "01606" "FGFR1_000003" "g.38272308T>C" "" "{PMID:Bennett JT 2016:26942290}, {DOI:Bennett JT 2016:10.1016/j.ajhg.2016.02.006}" "" "" "somatic mosaicism, 0.32 in brain tumor, 0.47 in scalp nevus" "Somatic" "-" "" "0" "" "" "g.38414790T>C" "" "pathogenic" "" "0000097073" "0" "90" "8" "38274849" "38274849" "subst" "0" "01606" "FGFR1_000002" "g.38274849G>T" "" "{PMID:Bennett 2016:26942290}, {DOI:Bennett 2016:10.1016/j.ajhg.2016.02.006}" "" "" "somatic variant 0.42 in scalp nevus / 0.35 in unaffected skin / 0.54 eyelid dermoid" "Somatic" "-" "" "0" "" "" "g.38417331G>T" "" "pathogenic" "" "0000097075" "0" "90" "8" "38274849" "38274849" "subst" "0" "01606" "FGFR1_000002" "g.38274849G>T" "" "{PMID:Bennett 2016:26942290}, {DOI:Bennett 2016:10.1016/j.ajhg.2016.02.006}" "" "" "somatic mosaicism, 0.33 in scalp nevus, 0.23 in unaffected skin" "Somatic" "-" "" "0" "" "" "g.38417331G>T" "" "pathogenic" "" "0000097077" "0" "90" "8" "38272308" "38272308" "subst" "0" "01606" "FGFR1_000003" "g.38272308T>C" "" "{PMID:Bennett 2016:26942290}, {DOI:Bennett 2016:10.1016/j.ajhg.2016.02.006}" "" "" "somatic mosaicism, 0.45 in scalp nevus, 0 blood" "Somatic" "" "" "0" "" "" "g.38414790T>C" "" "pathogenic" "" "0000097078" "0" "90" "8" "38274849" "38274849" "subst" "0" "01606" "FGFR1_000002" "g.38274849G>T" "" "{PMID:Bennett 2016:26942290}, {DOI:Bennett 2016:10.1016/j.ajhg.2016.02.006}" "" "" "somatic mosaicism, 0.55 in scalp nevus, 0 in saliva (0/36 reads)" "Somatic" "-" "" "0" "" "" "g.38417331G>T" "" "pathogenic" "" "0000132555" "0" "90" "8" "38271797" "38271797" "subst" "0" "00006" "FGFR1_000004" "g.38271797C>K" "" "{PMID:Hanchate 2012:22927827}, {DOI:Hanchate 2012:10.1371/journal.pgen.1002896}" "" "G687R" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38414279C>K" "" "pathogenic" "" "0000150740" "1" "50" "8" "38282064" "38282064" "subst" "0.000296439" "00006" "FGFR1_000005" "g.38282064A>G" "" "{PMID:Huang 2005:15793702}" "" "I300T" "" "Germline" "" "" "0" "" "" "g.38424546A>G" "" "VUS" "" "0000154030" "0" "90" "8" "38287269" "38287269" "subst" "0" "01861" "FGFR1_000006" "g.38287269C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.38429751C>T" "" "pathogenic" "" "0000154031" "0" "90" "8" "38271497" "38271497" "subst" "0" "01861" "FGFR1_000007" "g.38271497C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38413979C>G" "" "pathogenic" "" "0000154032" "0" "90" "8" "38274853" "38274853" "subst" "0" "01861" "FGFR1_000008" "g.38274853C>A" "" "" "" "" "mRNA extracted from peripheral leukocytes was analyzed\r\nVariant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "?" "" "0" "" "" "g.38417335C>A" "" "pathogenic" "" "0000154046" "21" "90" "8" "38320713" "38329024" "" "0" "01861" "FGFR1_000009" "g.(?_38320713)_(38329024_?)del" "" "" "" "" "deleted region contains critical promoter elements for FGFR1 expression" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000170838" "11" "50" "8" "38282215" "38282215" "subst" "0" "02034" "FGFR1_000010" "g.38282215G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.38424697G>A" "" "VUS" "" "0000283923" "0" "10" "8" "38271301" "38271301" "subst" "0.00309503" "02326" "FGFR1_000011" "g.38271301G>A" "" "" "" "FGFR1(NM_001174064.2):c.2284C>T (p.P762S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38413783G>A" "" "benign" "" "0000283924" "0" "10" "8" "38287213" "38287213" "subst" "0.00561281" "02326" "FGFR1_000025" "g.38287213G>A" "" "" "" "FGFR1(NM_001174064.2):c.321C>T (p.S107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38429695G>A" "" "benign" "" "0000283925" "0" "10" "8" "38285460" "38285460" "subst" "0.00807002" "02326" "FGFR1_000023" "g.38285460G>A" "" "" "" "FGFR1(NM_001174064.2):c.576C>T (p.D192=), FGFR1(NM_023110.3):c.600C>T (p.D200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38427942G>A" "" "benign" "" "0000287388" "0" "50" "8" "38279390" "38279390" "subst" "0" "01943" "FGFR1_000019" "g.38279390C>T" "" "" "" "FGFR1(NM_023110.2):c.1006G>A (p.A336T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38421872C>T" "" "VUS" "" "0000287389" "0" "50" "8" "38273534" "38273534" "subst" "0" "01943" "FGFR1_000015" "g.38273534G>A" "" "" "" "FGFR1(NM_001174064.1):c.1678C>T (p.R560W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38416016G>A" "" "VUS" "" "0000287390" "0" "50" "8" "38271456" "38271456" "subst" "1.22036E-5" "01943" "FGFR1_000012" "g.38271456C>T" "" "" "" "FGFR1(NM_001174064.1):c.2242G>A (p.V748M), FGFR1(NM_023110.3):c.2272G>A (p.(Val758Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38413938C>T" "" "VUS" "" "0000287391" "0" "10" "8" "38282220" "38282220" "subst" "0" "01943" "FGFR1_000022" "g.38282220G>A" "" "" "" "FGFR1(NM_023110.2):c.746-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38424702G>A" "" "benign" "" "0000287392" "0" "90" "8" "38282208" "38282208" "subst" "4.07631E-6" "01943" "FGFR1_000021" "g.38282208G>C" "" "" "" "FGFR1(NM_001174067.1):c.848C>G (p.(Pro283Arg)), FGFR1(NM_023110.2):c.755C>G (p.P252R), FGFR1(NM_023110.3):c.755C>G (p.P252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38424690G>C" "" "pathogenic" "" "0000287393" "0" "10" "8" "38282005" "38282005" "subst" "0.000771643" "01943" "FGFR1_000020" "g.38282005C>T" "" "" "" "FGFR1(NM_023110.2):c.936+22G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38424487C>T" "" "benign" "" "0000332104" "0" "50" "8" "38271749" "38271749" "subst" "2.43742E-5" "01804" "FGFR1_000014" "g.38271749C>T" "" "" "" "FGFR1(NM_001174063.1):c.2101G>A (p.(Gly701Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38414231C>T" "" "VUS" "" "0000332105" "0" "50" "8" "38274835" "38274835" "subst" "4.071E-6" "01804" "FGFR1_000016" "g.38274835C>G" "" "" "" "FGFR1(NM_001174063.1):c.1646G>C (p.(Cys549Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38417317C>G" "" "VUS" "" "0000332106" "0" "50" "8" "38275783" "38275783" "subst" "0" "01804" "FGFR1_000018" "g.38275783G>A" "" "" "" "FGFR1(NM_001174063.1):c.1387C>T (p.(Leu463Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38418265G>A" "" "VUS" "" "0000332107" "0" "50" "8" "38285926" "38285926" "subst" "0.000139558" "01804" "FGFR1_000024" "g.38285926T>G" "" "" "" "FGFR1(NM_001174063.1):c.386A>C (p.(Asp129Ala)), FGFR1(NM_023110.2):c.386A>C (p.D129A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38428408T>G" "" "VUS" "" "0000337932" "0" "10" "8" "38271547" "38271547" "subst" "0.0156534" "02327" "FGFR1_000028" "g.38271547G>A" "" "" "" "FGFR1(NM_001174063.1):c.2181-6C>T (p.(=)), FGFR1(NM_001174064.2):c.2157-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38414029G>A" "" "benign" "" "0000337933" "0" "90" "8" "38272420" "38272420" "subst" "0" "02327" "FGFR1_000037" "g.38272420C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38414902C>T" "" "pathogenic" "" "0000337934" "0" "30" "8" "38273584" "38273584" "subst" "0" "02327" "FGFR1_000041" "g.38273584G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38416066G>C" "" "likely benign" "" "0000337935" "0" "70" "8" "38282024" "38282024" "subst" "0" "02327" "FGFR1_000046" "g.38282024T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38424506T>A" "" "likely pathogenic" "" "0000337936" "0" "10" "8" "38285620" "38285620" "subst" "0.000874425" "02327" "FGFR1_000050" "g.38285620G>C" "" "" "" "FGFR1(NM_001174064.1):c.425-9C>G, FGFR1(NM_001174064.2):c.425-9C>G, FGFR1(NM_023110.2):c.449-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38428102G>C" "" "benign" "" "0000337937" "0" "10" "8" "38325326" "38325326" "subst" "0" "02327" "FGFR1_000053" "g.38325326G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38467808G>A" "" "benign" "" "0000337938" "0" "10" "8" "38325795" "38325795" "subst" "0" "02327" "FGFR1_000055" "g.38325795C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38468277C>T" "" "benign" "" "0000337939" "0" "10" "8" "38326046" "38326046" "subst" "0" "02327" "FGFR1_000056" "g.38326046G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38468528G>A" "" "benign" "" "0000337940" "0" "10" "8" "38326109" "38326109" "subst" "0" "02327" "FGFR1_000057" "g.38326109G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38468591G>A" "" "benign" "" "0000339188" "0" "70" "8" "38271148" "38271148" "subst" "0" "02327" "FGFR1_000026" "g.38271148A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38413630A>T" "" "likely pathogenic" "" "0000339937" "0" "10" "8" "38285460" "38285460" "subst" "0.00807002" "02327" "FGFR1_000023" "g.38285460G>A" "" "" "" "FGFR1(NM_001174064.2):c.576C>T (p.D192=), FGFR1(NM_023110.3):c.600C>T (p.D200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38427942G>A" "" "benign" "" "0000341538" "0" "50" "8" "38272340" "38272340" "subst" "0" "02327" "FGFR1_000036" "g.38272340G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38414822G>A" "" "VUS" "" "0000342419" "0" "90" "8" "38282215" "38282215" "subst" "0" "02327" "FGFR1_000010" "g.38282215G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38424697G>A" "" "pathogenic" "" "0000343168" "0" "90" "8" "38273417" "38273417" "subst" "0" "02327" "FGFR1_000039" "g.38273417G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38415899G>A" "" "pathogenic" "" "0000343250" "0" "70" "8" "38272338" "38272338" "subst" "0" "02327" "FGFR1_000035" "g.38272338G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38414820G>A" "" "likely pathogenic" "" "0000343275" "0" "90" "8" "38272144" "38272144" "subst" "0" "02327" "FGFR1_000031" "g.38272144G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38414626G>A" "" "pathogenic" "" "0000343365" "0" "90" "8" "38287326" "38287326" "subst" "0" "02327" "FGFR1_000051" "g.38287326G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38429808G>A" "" "pathogenic" "" "0000344163" "0" "90" "8" "38272337" "38272337" "del" "0" "02327" "FGFR1_000034" "g.38272337del" "" "" "" "FGFR1(NM_023110.2):c.1939del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38414819del" "" "pathogenic" "" "0000345215" "0" "90" "8" "38285474" "38285474" "subst" "0" "02327" "FGFR1_000049" "g.38285474C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38427956C>A" "" "pathogenic" "" "0000345900" "0" "90" "8" "38283676" "38283676" "subst" "0" "02327" "FGFR1_000048" "g.38283676C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38426158C>T" "" "pathogenic" "" "0000346016" "0" "70" "8" "38279354" "38279354" "subst" "0" "02327" "FGFR1_000043" "g.38279354C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38421836C>T" "" "likely pathogenic" "" "0000346017" "0" "90" "8" "38279354" "38279354" "subst" "0" "02327" "FGFR1_000044" "g.38279354C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38421836C>G" "" "pathogenic" "" "0000347100" "0" "50" "8" "38282031" "38282031" "subst" "0" "02327" "FGFR1_000047" "g.38282031A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38424513A>G" "" "VUS" "" "0000347266" "0" "70" "8" "38273402" "38273402" "subst" "0" "02327" "FGFR1_000038" "g.38273402G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38415884G>C" "" "likely pathogenic" "" "0000347523" "0" "90" "8" "38279434" "38279435" "del" "0" "02327" "FGFR1_000045" "g.38279434_38279435del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38421916_38421917del" "" "pathogenic" "" "0000347602" "0" "30" "8" "38273448" "38273448" "subst" "0" "02327" "FGFR1_000040" "g.38273448C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38415930C>G" "" "likely benign" "" "0000347840" "0" "30" "8" "38275808" "38275808" "subst" "0.000410202" "02327" "FGFR1_000042" "g.38275808C>A" "" "" "" "FGFR1(NM_001174063.1):c.1362G>T (p.(Met454Ile)), FGFR1(NM_001174064.1):c.1338G>T (p.M446I), FGFR1(NM_001174064.2):c.1338G>T (p.M446I), FGFR1(NM_02...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38418290C>A" "" "likely benign" "" "0000349840" "0" "90" "8" "38271805" "38271805" "subst" "0" "02327" "FGFR1_000030" "g.38271805C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38414287C>T" "" "pathogenic" "" "0000350176" "0" "90" "8" "38271753" "38271753" "subst" "0" "02327" "FGFR1_000029" "g.38271753G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38414235G>T" "" "pathogenic" "" "0000351151" "0" "90" "8" "38272296" "38272296" "subst" "0" "02327" "FGFR1_000032" "g.38272296C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38414778C>T" "" "pathogenic" "" "0000351153" "0" "90" "8" "38314873" "38314873" "subst" "0" "02327" "FGFR1_000052" "g.38314873C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38457355C>T" "" "pathogenic" "" "0000351154" "0" "30" "8" "38325768" "38325768" "subst" "0" "02327" "FGFR1_000054" "g.38325768G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38468250G>A" "" "likely benign" "" "0000395165" "0" "90" "8" "38272340" "38272340" "subst" "0" "02544" "FGFR1_000036" "g.38272340G>A" "" "" "" "" "De novo in patient" "De novo" "" "" "0" "" "" "g.38414822G>A" "" "pathogenic" "" "0000446116" "0" "90" "8" "38272340" "38272340" "subst" "0" "02544" "FGFR1_000036" "g.38272340G>A" "" "submitted" "" "" "In order to evaluate whether the variant, changing a highly conserved residue of the kinase domain, affects FGFR1 function biochemical studies were employed by using plasmids encoding FGFR1 wild-type and Ala645Val variant. We measured the FGFR1 receptor activity in FGF2 treated-cell lines exogenously expressing wild type or Ala645Val FGFR1 by monitoring the activation status of FGF2/FGFR1 downstream pathways. Our analysis highlighted that RAS/ERK1/2 signaling was significantly perturbed in cells expressing mutated FGFR1, in comparison with control cells." "In vitro (cloned)" "" "" "0" "" "" "g.38414822G>A" "" "NA" "" "0000465653" "0" "70" "8" "38272308" "38272308" "subst" "0" "03224" "FGFR1_000003" "g.38272308T>C" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.38414790T>C" "" "likely pathogenic" "" "0000465655" "0" "70" "8" "38272306" "38272308" "del" "0" "03224" "FGFR1_000058" "g.38272306_38272308delinsGTC" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.38414788_38414790delinsGTC" "" "likely pathogenic" "" "0000474984" "1" "50" "8" "38275752" "38275752" "subst" "2.437E-5" "00006" "FGFR1_000059" "g.38275752C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.38418234C>T" "" "VUS" "" "0000534728" "0" "50" "8" "38271187" "38271187" "subst" "2.4708E-5" "01804" "LETM2_000002" "g.38271187G>A" "" "" "" "FGFR1(NM_023110.2):c.2428C>T (p.(His810Tyr), p.H810Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38413669G>A" "" "VUS" "" "0000534729" "0" "30" "8" "38271264" "38271264" "subst" "2.84752E-5" "01804" "LETM2_000003" "g.38271264C>T" "" "" "" "FGFR1(NM_001174063.1):c.2345G>A (p.(Arg782Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38413746C>T" "" "likely benign" "" "0000534730" "0" "10" "8" "38271301" "38271301" "subst" "0.00309503" "02330" "FGFR1_000011" "g.38271301G>A" "" "" "" "FGFR1(NM_001174064.2):c.2284C>T (p.P762S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38413783G>A" "" "benign" "" "0000534731" "0" "70" "8" "38271461" "38271461" "subst" "2.03426E-5" "01943" "LETM2_000004" "g.38271461C>T" "" "" "" "FGFR1(NM_001174063.1):c.2261G>A (p.(Arg754His)), FGFR1(NM_001174064.1):c.2237G>A (p.R746H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38413943C>T" "" "likely pathogenic" "" "0000534732" "0" "10" "8" "38271466" "38271466" "subst" "0.00666385" "02330" "LETM2_000005" "g.38271466C>T" "" "" "" "FGFR1(NM_001174064.2):c.2232G>A (p.L744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38413948C>T" "" "benign" "" "0000534733" "0" "70" "8" "38271539" "38271539" "dup" "0" "02329" "LETM2_000006" "g.38271539dup" "" "" "" "FGFR1(NM_001174064.2):c.2159dupA (p.Y720*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38414021dup" "" "likely pathogenic" "" "0000534734" "0" "10" "8" "38271547" "38271547" "subst" "0.0156534" "02330" "FGFR1_000028" "g.38271547G>A" "" "" "" "FGFR1(NM_001174063.1):c.2181-6C>T (p.(=)), FGFR1(NM_001174064.2):c.2157-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38414029G>A" "" "benign" "" "0000534735" "0" "30" "8" "38271547" "38271547" "subst" "0.0156534" "01804" "FGFR1_000028" "g.38271547G>A" "" "" "" "FGFR1(NM_001174063.1):c.2181-6C>T (p.(=)), FGFR1(NM_001174064.2):c.2157-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38414029G>A" "" "likely benign" "" "0000534736" "0" "70" "8" "38272407" "38272407" "subst" "0" "02327" "FGFR1_000060" "g.38272407C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38414889C>A" "" "likely pathogenic" "" "0000534737" "0" "50" "8" "38274892" "38274892" "subst" "3.24926E-5" "02327" "FGFR1_000061" "g.38274892A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38417374A>G" "" "VUS" "" "0000534738" "0" "10" "8" "38274930" "38274930" "subst" "8.12836E-6" "02330" "FGFR1_000062" "g.38274930G>A" "" "" "" "FGFR1(NM_001174064.2):c.1527C>T (p.D509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38417412G>A" "" "benign" "" "0000534739" "0" "30" "8" "38275514" "38275514" "subst" "0.00014218" "01943" "FGFR1_000063" "g.38275514C>T" "" "" "" "FGFR1(NM_001174064.1):c.1401-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38417996C>T" "" "likely benign" "" "0000534740" "0" "50" "8" "38275788" "38275788" "subst" "1.62451E-5" "02330" "FGFR1_000064" "g.38275788T>C" "" "" "" "FGFR1(NM_001174063.1):c.1382A>G (p.(Tyr461Cys)), FGFR1(NM_001174064.2):c.1358A>G (p.Y453C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38418270T>C" "" "VUS" "" "0000534741" "0" "50" "8" "38275788" "38275788" "subst" "1.62451E-5" "01804" "FGFR1_000064" "g.38275788T>C" "" "" "" "FGFR1(NM_001174063.1):c.1382A>G (p.(Tyr461Cys)), FGFR1(NM_001174064.2):c.1358A>G (p.Y453C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38418270T>C" "" "VUS" "" "0000534742" "0" "30" "8" "38275808" "38275808" "subst" "0.000410202" "02325" "FGFR1_000042" "g.38275808C>A" "" "" "" "FGFR1(NM_001174063.1):c.1362G>T (p.(Met454Ile)), FGFR1(NM_001174064.1):c.1338G>T (p.M446I), FGFR1(NM_001174064.2):c.1338G>T (p.M446I), FGFR1(NM_02...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38418290C>A" "" "likely benign" "" "0000534743" "0" "30" "8" "38275827" "38275827" "subst" "0" "02327" "FGFR1_000065" "g.38275827G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38418309G>A" "" "likely benign" "" "0000534744" "0" "70" "8" "38279339" "38279339" "subst" "0" "02327" "FGFR1_000066" "g.38279339A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38421821A>G" "" "likely pathogenic" "" "0000534745" "0" "30" "8" "38282064" "38282064" "subst" "0.000296439" "01943" "FGFR1_000005" "g.38282064A>G" "" "" "" "FGFR1(NM_001174064.1):c.875T>C (p.I292T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38424546A>G" "" "likely benign" "" "0000534746" "0" "30" "8" "38282064" "38282064" "subst" "0.000296439" "02327" "FGFR1_000005" "g.38282064A>G" "" "" "" "FGFR1(NM_001174064.1):c.875T>C (p.I292T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38424546A>G" "" "likely benign" "" "0000534747" "0" "90" "8" "38282171" "38282171" "subst" "0" "02327" "FGFR1_000067" "g.38282171G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38424653G>T" "" "pathogenic" "" "0000534748" "0" "90" "8" "38282203" "38282203" "subst" "0" "02327" "FGFR1_000068" "g.38282203G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38424685G>A" "" "pathogenic" "" "0000534749" "0" "90" "8" "38282208" "38282208" "subst" "4.07631E-6" "01804" "FGFR1_000021" "g.38282208G>C" "" "" "" "FGFR1(NM_001174067.1):c.848C>G (p.(Pro283Arg)), FGFR1(NM_023110.2):c.755C>G (p.P252R), FGFR1(NM_023110.3):c.755C>G (p.P252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38424690G>C" "" "pathogenic" "" "0000534751" "0" "10" "8" "38285620" "38285620" "subst" "0.000874425" "02330" "FGFR1_000050" "g.38285620G>C" "" "" "" "FGFR1(NM_001174064.1):c.425-9C>G, FGFR1(NM_001174064.2):c.425-9C>G, FGFR1(NM_023110.2):c.449-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38428102G>C" "" "benign" "" "0000534752" "0" "30" "8" "38285620" "38285620" "subst" "0.000874425" "01943" "FGFR1_000050" "g.38285620G>C" "" "" "" "FGFR1(NM_001174064.1):c.425-9C>G, FGFR1(NM_001174064.2):c.425-9C>G, FGFR1(NM_023110.2):c.449-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38428102G>C" "" "likely benign" "" "0000534753" "0" "10" "8" "38287213" "38287213" "subst" "0.00561281" "02330" "FGFR1_000025" "g.38287213G>A" "" "" "" "FGFR1(NM_001174064.2):c.321C>T (p.S107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38429695G>A" "" "benign" "" "0000534755" "0" "10" "8" "38287238" "38287238" "subst" "0.00131813" "02330" "FGFR1_000071" "g.38287238G>A" "" "" "" "FGFR1(NM_001174063.1):c.320C>T (p.(Ser107Leu)), FGFR1(NM_001174064.2):c.296C>T (p.S99L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38429720G>A" "" "benign" "" "0000534756" "0" "30" "8" "38314890" "38314890" "subst" "0.000183993" "01943" "FGFR1_000072" "g.38314890C>T" "" "" "" "FGFR1(NM_023110.2):c.75G>A (p.P25=), FGFR1(NM_023110.3):c.75G>A (p.P25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38457372C>T" "" "likely benign" "" "0000534757" "0" "30" "8" "38314899" "38314899" "subst" "0.00115049" "02330" "FGFR1_000073" "g.38314899C>G" "" "" "" "FGFR1(NM_023110.2):c.66G>C (p.(Arg22Ser)), FGFR1(NM_023110.3):c.66G>C (p.R22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38457381C>G" "" "likely benign" "" "0000611610" "0" "50" "8" "38271216" "38271216" "subst" "5.3185E-5" "02330" "LETM2_000007" "g.38271216G>A" "" "" "" "FGFR1(NM_001174064.2):c.2369C>T (p.P790L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38413698G>A" "" "VUS" "" "0000611611" "0" "90" "8" "38275745" "38275745" "subst" "0" "02327" "FGFR1_000075" "g.38275745C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38418227C>T" "" "pathogenic" "" "0000611612" "0" "90" "8" "38287269" "38287269" "subst" "0" "02327" "FGFR1_000006" "g.38287269C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38429751C>T" "" "pathogenic" "" "0000622062" "0" "30" "8" "38275742" "38275744" "del" "0" "01943" "FGFR1_000074" "g.38275742_38275744del" "" "" "" "FGFR1(NM_023110.2):c.1430+7_1430+9delATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38418224_38418226del" "" "likely benign" "" "0000640806" "1" "77" "8" "38271151" "38271151" "subst" "0.000272403" "00004" "FGFR1_000076" "g.38271151G>A" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38413633G>A" "" "likely pathogenic" "" "0000640807" "1" "99" "8" "38271216" "38271216" "subst" "5.3185E-5" "00004" "LETM2_000007" "g.38271216G>A" "" "{DB:DVD}, {PMID:Sarfati 2013:24031091}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38413698G>A" "" "pathogenic" "" "0000640808" "1" "99" "8" "38271232" "38271232" "subst" "2.03827E-5" "00004" "FGFR1_000077" "g.38271232C>T" "" "{DB:DVD}, {PMID:Trarbach 2006:16882753}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38413714C>T" "" "pathogenic" "" "0000640809" "1" "99" "8" "38271313" "38271313" "subst" "0" "00004" "FGFR1_000078" "g.38271313C>G" "" "{DB:DVD}, {PMID:Sykiotis 2010:20696889}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38413795C>G" "" "pathogenic" "" "0000640810" "1" "77" "8" "38271313" "38271313" "subst" "0" "00004" "FGFR1_000079" "g.38271313C>A" "" "{DB:DVD}, {PMID:Sykiotis 2010:20696889}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38413795C>A" "" "likely pathogenic" "" "0000640811" "1" "99" "8" "38271433" "38271433" "subst" "7.73773E-5" "00004" "FGFR1_000080" "g.38271433T>C" "" "{DB:DVD}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38413915T>C" "" "pathogenic" "" "0000640812" "1" "77" "8" "38271436" "38271436" "subst" "0" "00004" "FGFR1_000081" "g.38271436C>G" "" "{DB:DVD}, {PMID:Sykiotis 2010:20696889}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38413918C>G" "" "likely pathogenic" "" "0000640813" "1" "99" "8" "38271436" "38271436" "subst" "0" "00004" "FGFR1_000082" "g.38271436C>A" "" "{DB:DVD}, {PMID:Balasubramanian 1993:20301509}, {PMID:Laitinen 2011:21682876}, {PMID:Falardeau 2008:18596921}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38413918C>A" "" "pathogenic" "" "0000640814" "1" "99" "8" "38271461" "38271461" "subst" "2.03426E-5" "00004" "LETM2_000004" "g.38271461C>T" "" "{DB:DVD}, {PMID:Caronia 2011:21247312}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38413943C>T" "" "pathogenic" "" "0000640815" "1" "99" "8" "38271487" "38271487" "subst" "0" "00004" "FGFR1_000083" "g.38271487G>T" "" "{DB:DVD}, {PMID:Shaw 2011:21209029}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38413969G>T" "" "pathogenic" "" "0000640816" "1" "99" "8" "38271495" "38271495" "subst" "0" "00004" "FGFR1_000084" "g.38271495G>A" "" "{DB:DVD}, {PMID:Sato 2004:15001591}, {PMID:Rajith 2013:23329143}, {PMID:Sykiotis 2010:20696889}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38413977G>A" "" "pathogenic" "" "0000640817" "1" "77" "8" "38271519" "38271519" "subst" "0" "00004" "FGFR1_000085" "g.38271519A>G" "" "{DB:DVD}, {PMID:Zhu 2015:25636053}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414001A>G" "" "likely pathogenic" "" "0000640818" "1" "99" "8" "38271527" "38271527" "del" "0" "00004" "FGFR1_000086" "g.38271527del" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414009del" "" "pathogenic" "" "0000640819" "1" "99" "8" "38271538" "38271538" "subst" "0" "00004" "FGFR1_000087" "g.38271538G>C" "" "{DB:DVD}, {PMID:Albuisson 2005:15605412}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414020G>C" "" "pathogenic" "" "0000640820" "1" "99" "8" "38271546" "38271546" "subst" "0" "00004" "FGFR1_000088" "g.38271546G>T" "" "{DB:DVD}, {PMID:Sykiotis 2010:20696889}, {PMID:Shaw 2011:21209029}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414028G>T" "" "pathogenic" "" "0000640821" "1" "99" "8" "38271682" "38271682" "subst" "0" "00004" "FGFR1_000089" "g.38271682C>T" "" "{DB:DVD}, {PMID:Simonis 2013:23812909}, {PMID:Solomon 1993:20301702}, {PMID:Vilain 2009:19504604}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414164C>T" "" "pathogenic" "" "0000640822" "1" "55" "8" "38271684" "38271684" "subst" "0" "00004" "FGFR1_000090" "g.38271684G>C" "" "{DB:DVD}, {PMID:Laitinen 2011:21682876}, {PMID:Pitteloud 2006:16606836}, {PMID:Balasubramanian 1993:20301509}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414166G>C" "" "VUS" "" "0000640823" "1" "99" "8" "38271684" "38271691" "delins" "0" "00004" "FGFR1_000091" "g.38271684_38271691delinsCTTACTGT" "" "{DB:DVD}, {PMID:Pitteloud 2006:16606836}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414166_38414173delinsCTTACTGT" "" "pathogenic" "" "0000640824" "1" "99" "8" "38271692" "38271692" "subst" "0" "00004" "FGFR1_000092" "g.38271692G>A" "" "{DB:DVD}, {PMID:Trarbach 2006:16882753}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414174G>A" "" "pathogenic" "" "0000640825" "1" "99" "8" "38271700" "38271700" "subst" "0" "00004" "FGFR1_000093" "g.38271700A>C" "" "{DB:DVD}, {PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414182A>C" "" "pathogenic" "" "0000640826" "1" "77" "8" "38271704" "38271704" "subst" "0" "00004" "FGFR1_000094" "g.38271704G>A" "" "{DB:DVD}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414186G>A" "" "likely pathogenic" "" "0000640827" "1" "77" "8" "38271710" "38271710" "subst" "0" "00004" "FGFR1_000095" "g.38271710C>A" "" "{DB:DVD}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414192C>A" "" "likely pathogenic" "" "0000640828" "1" "99" "8" "38271749" "38271749" "subst" "0" "00004" "FGFR1_000096" "g.38271749C>G" "" "{DB:DVD}, {PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414231C>G" "" "pathogenic" "" "0000640829" "1" "99" "8" "38271749" "38271749" "subst" "2.43742E-5" "00004" "FGFR1_000014" "g.38271749C>T" "" "{DB:DVD}, {PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414231C>T" "" "pathogenic" "" "0000640830" "1" "99" "8" "38271757" "38271757" "subst" "0" "00004" "FGFR1_000097" "g.38271757G>A" "" "{DB:DVD}, {PMID:Sykiotis 2010:20696889}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414239G>A" "" "pathogenic" "" "0000640831" "1" "99" "8" "38271772" "38271772" "subst" "0" "00004" "FGFR1_000098" "g.38271772G>A" "" "{DB:DVD}, {PMID:Balasubramanian 1993:20301509}, {PMID:Laitinen 2011:21682876}, {PMID:Vizeneux 2013:24204987}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414254G>A" "" "pathogenic" "" "0000640832" "1" "99" "8" "38271779" "38271779" "subst" "0" "00004" "FGFR1_000099" "g.38271779T>A" "" "{DB:DVD}, {PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414261T>A" "" "pathogenic" "" "0000640833" "1" "99" "8" "38271781" "38271781" "subst" "0" "00004" "FGFR1_000100" "g.38271781T>C" "" "{DB:DVD}, {PMID:Cadman 2007:17191030}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414263T>C" "" "pathogenic" "" "0000640834" "1" "99" "8" "38271782" "38271782" "subst" "0" "00004" "FGFR1_000101" "g.38271782C>T" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414264C>T" "" "pathogenic" "" "0000640835" "1" "99" "8" "38271797" "38271797" "subst" "0" "00004" "FGFR1_000102" "g.38271797C>T" "" "{DB:DVD}, {PMID:Zhu 2015:25636053}, {PMID:Sato 2005:15845591}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414279C>T" "" "pathogenic" "" "0000640836" "1" "99" "8" "38271802" "38271802" "subst" "0" "00004" "FGFR1_000103" "g.38271802G>A" "" "{DB:DVD}, {PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414284G>A" "" "pathogenic" "" "0000640837" "1" "99" "8" "38271808" "38271808" "subst" "0" "00004" "FGFR1_000104" "g.38271808C>G" "" "{DB:DVD}, {PMID:Laitinen 2010:20079901}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414290C>G" "" "pathogenic" "" "0000640838" "1" "77" "8" "38271808" "38271808" "subst" "0" "00004" "FGFR1_000105" "g.38271808C>T" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414290C>T" "" "likely pathogenic" "" "0000640839" "1" "99" "8" "38272076" "38272076" "subst" "0" "00004" "FGFR1_000106" "g.38272076C>T" "" "{DB:DVD}, {PMID:Dodé 2003:12627230}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414558C>T" "" "pathogenic" "" "0000640840" "1" "99" "8" "38272087" "38272087" "subst" "0" "00004" "FGFR1_000107" "g.38272087G>A" "" "{DB:DVD}, {PMID:Zhu 2015:25636053}, {PMID:Laitinen 2011:21682876}, {PMID:Pitteloud 2006:16606836}, {PMID:Balasubramanian 1993:20301509}, {PMID:Miraoui 2013:23643382}, {PMID:Raivio 2009:19820032}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414569G>A" "" "pathogenic" "" "0000640841" "1" "99" "8" "38272114" "38272114" "subst" "0" "00004" "FGFR1_000108" "g.38272114C>G" "" "{DB:DVD}, {PMID:Raivio 2009:19820032}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414596C>G" "" "pathogenic" "" "0000640842" "1" "77" "8" "38272116" "38272116" "subst" "0" "00004" "FGFR1_000109" "g.38272116T>G" "" "{DB:DVD}, {PMID:Laitinen 2011:21682876}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414598T>G" "" "likely pathogenic" "" "0000640843" "1" "77" "8" "38272117" "38272117" "subst" "0" "00004" "FGFR1_000110" "g.38272117C>T" "" "{DB:DVD}, {PMID:Costa-Barbosa 2013:23533228}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414599C>T" "" "likely pathogenic" "" "0000640844" "1" "99" "8" "38272129" "38272129" "subst" "0" "00004" "FGFR1_000111" "g.38272129A>T" "" "{DB:DVD}, {PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414611A>T" "" "pathogenic" "" "0000640845" "1" "99" "8" "38272138" "38272138" "subst" "0" "00004" "FGFR1_000112" "g.38272138G>A" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414620G>A" "" "pathogenic" "" "0000640846" "1" "99" "8" "38272144" "38272144" "subst" "0" "00004" "FGFR1_000031" "g.38272144G>A" "" "{DB:DVD}, {PMID:Dodé 2007:17154279}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414626G>A" "" "pathogenic" "" "0000640847" "1" "99" "8" "38272296" "38272296" "subst" "0" "00004" "FGFR1_000032" "g.38272296C>T" "" "{DB:DVD}, {PMID:Dodé 2007:17154279}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414778C>T" "" "pathogenic" "" "0000640848" "1" "99" "8" "38272304" "38272305" "del" "0" "00004" "FGFR1_000113" "g.38272304_38272305del" "" "{DB:DVD}, {PMID:Dodé 2003:12627230}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414786_38414787del" "" "pathogenic" "" "0000640849" "1" "99" "8" "38272338" "38272338" "subst" "0" "00004" "FGFR1_000035" "g.38272338G>A" "" "{DB:DVD}, {PMID:Tommiska 2014:24732674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414820G>A" "" "pathogenic" "" "0000640850" "1" "99" "8" "38272358" "38272358" "subst" "0" "00004" "FGFR1_000114" "g.38272358A>G" "" "{DB:DVD}, {PMID:Zhu 2015:25636053}, {PMID:Shaw 2011:21209029}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414840A>G" "" "pathogenic" "" "0000640851" "1" "99" "8" "38272368" "38272369" "del" "0" "00004" "FGFR1_000115" "g.38272368_38272369del" "" "{DB:DVD}, {PMID:Sarfati 2013:24031091}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414850_38414851del" "" "pathogenic" "" "0000640852" "1" "99" "8" "38272385" "38272385" "subst" "0" "00004" "FGFR1_000116" "g.38272385A>G" "" "{DB:DVD}, {PMID:Shaw 2011:21209029}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414867A>G" "" "pathogenic" "" "0000640853" "1" "99" "8" "38272390" "38272390" "subst" "0" "00004" "FGFR1_000117" "g.38272390A>C" "" "{DB:DVD}, {PMID:Simonis 2013:23812909}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414872A>C" "" "pathogenic" "" "0000640854" "1" "99" "8" "38272394" "38272394" "subst" "0" "00004" "FGFR1_000118" "g.38272394C>G" "" "{DB:DVD}, {PMID:Dhamija 2014:24888332}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414876C>G" "" "pathogenic" "" "0000640855" "1" "99" "8" "38272407" "38272407" "subst" "0" "00004" "FGFR1_000060" "g.38272407C>A" "" "{DB:DVD}, {PMID:Simonis 2013:23812909}, {PMID:Solomon 1993:20301702}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414889C>A" "" "pathogenic" "" "0000640856" "1" "99" "8" "38272409" "38272409" "subst" "0" "00004" "FGFR1_000119" "g.38272409C>T" "" "{DB:DVD}, {PMID:Bailleul-Forestier 2010:20536592}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414891C>T" "" "pathogenic" "" "0000640857" "1" "99" "8" "38272410" "38272410" "subst" "0" "00004" "FGFR1_000120" "g.38272410G>A" "" "{DB:DVD}, {PMID:Xu 2007:17200176}, {PMID:Balasubramanian 1993:20301509}, {PMID:Zhu 2015:25636053}, {PMID:Laitinen 2011:21682876}, {PMID:Dodé 2003:12627230}, {PMID:Miraoui 2013:23643382}, {PMID:Sykiotis 2010:20696889}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414892G>A" "" "pathogenic" "" "0000640858" "1" "99" "8" "38272410" "38272410" "subst" "0" "00004" "FGFR1_000121" "g.38272410G>C" "" "{DB:DVD}, {PMID:Zenaty 2006:16757108}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414892G>C" "" "pathogenic" "" "0000640859" "1" "99" "8" "38272412" "38272412" "subst" "0" "00004" "FGFR1_000122" "g.38272412T>C" "" "{DB:DVD}, {PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38414894T>C" "" "pathogenic" "" "0000640860" "1" "99" "8" "38273388" "38273388" "subst" "0" "00004" "FGFR1_000123" "g.38273388C>A" "" "{DB:DVD}, {PMID:Raivio 2009:19820032}, {PMID:Miraoui 2013:23643382}, {PMID:Sykiotis 2010:20696889}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38415870C>A" "" "pathogenic" "" "0000640861" "1" "99" "8" "38273389" "38273390" "del" "0" "00004" "FGFR1_000124" "g.38273389_38273390del" "" "{DB:DVD}, {PMID:Trarbach 2006:16882753}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38415871_38415872del" "" "pathogenic" "" "0000640862" "1" "99" "8" "38273405" "38273405" "dup" "0" "00004" "FGFR1_000125" "g.38273405dup" "" "{DB:DVD}, {PMID:Albuisson 2005:15605412}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38415887dup" "" "pathogenic" "" "0000640863" "1" "77" "8" "38273407" "38273407" "subst" "0" "00004" "FGFR1_000126" "g.38273407T>C" "" "{DB:DVD}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38415889T>C" "" "likely pathogenic" "" "0000640864" "1" "99" "8" "38273417" "38273417" "subst" "0" "00004" "FGFR1_000039" "g.38273417G>A" "" "{DB:DVD}, {PMID:Riley 2007:17360555}, {PMID:Marcos 2014:25077900}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38415899G>A" "" "pathogenic" "" "0000640865" "1" "99" "8" "38273423" "38273423" "subst" "0" "00004" "FGFR1_000127" "g.38273423C>T" "" "{DB:DVD}, {PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38415905C>T" "" "pathogenic" "" "0000640866" "1" "77" "8" "38273432" "38273432" "subst" "8.12387E-6" "00004" "FGFR1_000128" "g.38273432C>T" "" "{DB:DVD}, {PMID:Sarfati 2010:20022991}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38415914C>T" "" "likely pathogenic" "" "0000640867" "1" "99" "8" "38273487" "38273487" "subst" "0" "00004" "FGFR1_000129" "g.38273487G>T" "" "{DB:DVD}, {PMID:Pitteloud 2006:16764984}, {PMID:Miraoui 2013:23643382}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38415969G>T" "" "pathogenic" "" "0000640868" "1" "99" "8" "38273534" "38273534" "subst" "0" "00004" "FGFR1_000015" "g.38273534G>A" "" "{DB:DVD}, {PMID:Izumi 2014:25064402}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38416016G>A" "" "pathogenic" "" "0000640869" "1" "99" "8" "38273580" "38273580" "subst" "0" "00004" "FGFR1_000130" "g.38273580T>C" "" "{DB:DVD}, {PMID:Sarfati 2013:24031091}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38416062T>C" "" "pathogenic" "" "0000640870" "1" "99" "8" "38274873" "38274873" "subst" "2.03135E-5" "00004" "FGFR1_000131" "g.38274873G>A" "" "{DB:DVD}, {PMID:Tommiska 2014:24732674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38417355G>A" "" "pathogenic" "" "0000640871" "1" "99" "8" "38274875" "38274875" "subst" "0" "00004" "FGFR1_000132" "g.38274875T>C" "" "{DB:DVD}, {PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38417357T>C" "" "pathogenic" "" "0000640872" "1" "99" "8" "38274929" "38274929" "subst" "1.21926E-5" "00004" "FGFR1_000133" "g.38274929C>T" "" "{DB:DVD}, {PMID:Albuisson 2005:15605412}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38417411C>T" "" "pathogenic" "" "0000640873" "1" "99" "8" "38274936" "38274936" "subst" "0" "00004" "FGFR1_000134" "g.38274936T>C" "" "{DB:DVD}, {PMID:Sykiotis 2010:20696889}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38417418T>C" "" "pathogenic" "" "0000640874" "1" "99" "8" "38275405" "38275405" "subst" "0" "00004" "FGFR1_000135" "g.38275405G>A" "" "{DB:DVD}, {PMID:Tommiska 2014:24732674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38417887G>A" "" "pathogenic" "" "0000640875" "1" "77" "8" "38275466" "38275466" "subst" "0" "00004" "FGFR1_000136" "g.38275466C>T" "" "{DB:DVD}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38417948C>T" "" "likely pathogenic" "" "0000640876" "1" "99" "8" "38275472" "38275472" "subst" "0" "00004" "FGFR1_000137" "g.38275472C>G" "" "{DB:DVD}, {PMID:Simonis 2013:23812909}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38417954C>G" "" "pathogenic" "" "0000640877" "1" "99" "8" "38275480" "38275480" "subst" "0" "00004" "FGFR1_000138" "g.38275480C>T" "" "{DB:DVD}, {PMID:Balasubramanian 1993:20301509}, {PMID:Laitinen 2011:21682876}, {PMID:Vizeneux 2013:24204987}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38417962C>T" "" "pathogenic" "" "0000640878" "1" "99" "8" "38275493" "38275493" "subst" "4.06111E-6" "00004" "FGFR1_000139" "g.38275493G>A" "" "{DB:DVD}, {PMID:Raivio 2012:22319038}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38417975G>A" "" "pathogenic" "" "0000640879" "1" "77" "8" "38275493" "38275493" "subst" "0" "00004" "FGFR1_000140" "g.38275493G>T" "" "{DB:DVD}, {PMID:Costa-Barbosa 2013:23533228}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38417975G>T" "" "likely pathogenic" "" "0000640880" "1" "99" "8" "38275752" "38275752" "subst" "2.437E-5" "00004" "FGFR1_000059" "g.38275752C>T" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38418234C>T" "" "pathogenic" "" "0000640881" "1" "99" "8" "38275767" "38275767" "subst" "1.21846E-5" "00004" "FGFR1_000141" "g.38275767C>A" "" "{DB:DVD}, {PMID:Pitteloud 2007:17235395}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}, {PMID:Sykiotis 2010:20696889}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38418249C>A" "" "pathogenic" "" "0000640882" "1" "99" "8" "38275777" "38275777" "subst" "1.21845E-5" "00004" "FGFR1_000142" "g.38275777C>T" "" "{DB:DVD}, {PMID:Riley 2007:17360555}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38418259C>T" "" "pathogenic" "" "0000640883" "1" "99" "8" "38275793" "38275794" "ins" "0" "00004" "FGFR1_000143" "g.38275793_38275794insAA" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38418275_38418276insAA" "" "pathogenic" "" "0000640884" "1" "99" "8" "38275798" "38275799" "ins" "0" "00004" "FGFR1_000144" "g.38275798_38275799insT" "" "{DB:DVD}, {PMID:Novo 2012:22751423}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38418280_38418281insT" "" "pathogenic" "" "0000640885" "1" "99" "8" "38275808" "38275808" "subst" "0.000410202" "00004" "FGFR1_000042" "g.38275808C>A" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38418290C>A" "" "pathogenic" "" "0000640886" "1" "99" "8" "38275827" "38275827" "subst" "0" "00004" "FGFR1_000065" "g.38275827G>A" "" "{DB:DVD}, {PMID:Raivio 2012:22319038}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38418309G>A" "" "pathogenic" "" "0000640887" "1" "99" "8" "38275834" "38275834" "subst" "1.62479E-5" "00004" "FGFR1_000145" "g.38275834G>A" "" "{DB:DVD}, {PMID:Shaw 2011:21209029}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38418316G>A" "" "pathogenic" "" "0000640888" "1" "99" "8" "38275858" "38275859" "del" "0" "00004" "FGFR1_000146" "g.38275858_38275859del" "" "{DB:DVD}, {PMID:Sato 2006:16418210}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38418340_38418341del" "" "pathogenic" "" "0000640889" "1" "99" "8" "38275870" "38275871" "dup" "0" "00004" "FGFR1_000147" "g.38275870_38275871dup" "" "{DB:DVD}, {PMID:Laitinen 2011:21682876}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38418352_38418353dup" "" "pathogenic" "" "0000640890" "1" "99" "8" "38275890" "38275890" "subst" "0" "00004" "FGFR1_000148" "g.38275890A>T" "" "{DB:DVD}, {PMID:Sykiotis 2010:20696889}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38418372A>T" "" "pathogenic" "" "0000640891" "1" "99" "8" "38275893" "38275893" "subst" "0" "00004" "FGFR1_000149" "g.38275893T>C" "" "{DB:DVD}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38418375T>C" "" "pathogenic" "" "0000640892" "1" "77" "8" "38277056" "38277056" "subst" "0" "00004" "FGFR1_000150" "g.38277056C>A" "" "{DB:DVD}, {PMID:Sykiotis 2010:20696889}, {PMID:Miraoui 2013:23643382}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38419538C>A" "" "likely pathogenic" "" "0000640893" "1" "77" "8" "38277184" "38277184" "subst" "0" "00004" "FGFR1_000151" "g.38277184G>T" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38419666G>T" "" "likely pathogenic" "" "0000640894" "1" "99" "8" "38277194" "38277194" "subst" "0" "00004" "FGFR1_000152" "g.38277194A>G" "" "{DB:DVD}, {PMID:Farrow 2006:16470795}, {PMID:Beighton 1980:7422392}, {PMID:White 2005:15625620}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38419676A>G" "" "pathogenic" "" "0000640895" "1" "99" "8" "38277214" "38277214" "subst" "0" "00004" "FGFR1_000153" "g.38277214T>C" "" "{DB:DVD}, {PMID:White 2005:15625620}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38419696T>C" "" "pathogenic" "" "0000640896" "1" "99" "8" "38277228" "38277228" "subst" "4.06233E-6" "00004" "FGFR1_000154" "g.38277228C>T" "" "{DB:DVD}, {PMID:Riley 2007:17360555}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38419710C>T" "" "pathogenic" "" "0000640897" "1" "99" "8" "38277238" "38277238" "subst" "0" "00004" "FGFR1_000155" "g.38277238G>A" "" "{DB:DVD}, {PMID:Zhu 2015:25636053}, {PMID:Trarbach 2006:16882753}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38419720G>A" "" "pathogenic" "" "0000640898" "1" "99" "8" "38277245" "38277246" "del" "0" "00004" "FGFR1_000156" "g.38277245_38277246del" "" "{DB:DVD}, {PMID:Albuisson 2005:15605412}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38419727_38419728del" "" "pathogenic" "" "0000640899" "1" "99" "8" "38277245" "38277246" "dup" "0" "00004" "FGFR1_000157" "g.38277245_38277246dup" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38419727_38419728dup" "" "pathogenic" "" "0000640900" "1" "99" "8" "38279315" "38279315" "subst" "0" "00004" "FGFR1_000158" "g.38279315C>G" "" "{DB:DVD}, {PMID:Dodé 2007:17154279}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421797C>G" "" "pathogenic" "" "0000640901" "1" "77" "8" "38279326" "38279326" "subst" "0" "00004" "FGFR1_000159" "g.38279326G>A" "" "{DB:DVD}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421808G>A" "" "likely pathogenic" "" "0000640902" "1" "77" "8" "38279333" "38279333" "subst" "0" "00004" "FGFR1_000160" "g.38279333A>G" "" "{DB:DVD}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421815A>G" "" "likely pathogenic" "" "0000640903" "1" "99" "8" "38279354" "38279354" "subst" "0" "00004" "FGFR1_000043" "g.38279354C>T" "" "{DB:DVD}, {PMID:Bailleul-Forestier 2010:20536592}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421836C>T" "" "pathogenic" "" "0000640904" "1" "99" "8" "38279358" "38279359" "ins" "0" "00004" "FGFR1_000162" "g.38279358_38279359insAA" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421840_38421841insAA" "" "pathogenic" "" "0000640905" "1" "99" "8" "38279358" "38279358" "dup" "0" "00004" "FGFR1_000161" "g.38279358dup" "" "{DB:DVD}, {PMID:Sykiotis 2010:20696889}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421840dup" "" "pathogenic" "" "0000640906" "1" "99" "8" "38279359" "38279359" "subst" "0" "00004" "FGFR1_000163" "g.38279359G>C" "" "{DB:DVD}, {PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421841G>C" "" "pathogenic" "" "0000640907" "1" "99" "8" "38279360" "38279361" "del" "0" "00004" "FGFR1_000164" "g.38279360_38279361del" "" "{DB:DVD}, {PMID:Zhu 2015:25636053}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421842_38421843del" "" "pathogenic" "" "0000640908" "1" "99" "8" "38279368" "38279368" "subst" "0" "00004" "FGFR1_000165" "g.38279368G>A" "" "{DB:DVD}, {PMID:Trarbach 2006:16882753}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421850G>A" "" "pathogenic" "" "0000640909" "1" "99" "8" "38279371" "38279371" "subst" "0" "00004" "FGFR1_000166" "g.38279371A>G" "" "{DB:DVD}, {PMID:Pitteloud 2007:17235395}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421853A>G" "" "pathogenic" "" "0000640910" "1" "99" "8" "38279373" "38279373" "subst" "0" "00004" "FGFR1_000167" "g.38279373G>C" "" "{DB:DVD}, {PMID:Bailleul-Forestier 2010:20536592}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421855G>C" "" "pathogenic" "" "0000640911" "1" "77" "8" "38279377" "38279377" "subst" "0" "00004" "FGFR1_000168" "g.38279377G>A" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421859G>A" "" "likely pathogenic" "" "0000640912" "1" "99" "8" "38279378" "38279378" "subst" "0" "00004" "FGFR1_000169" "g.38279378T>C" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421860T>C" "" "pathogenic" "" "0000640913" "1" "99" "8" "38279380" "38279380" "subst" "0" "00004" "FGFR1_000170" "g.38279380T>C" "" "{DB:DVD}, {PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421862T>C" "" "pathogenic" "" "0000640914" "1" "99" "8" "38279392" "38279392" "subst" "0" "00004" "FGFR1_000171" "g.38279392T>A" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421874T>A" "" "pathogenic" "" "0000640915" "1" "99" "8" "38279401" "38279401" "subst" "0" "00004" "FGFR1_000172" "g.38279401G>C" "" "{DB:DVD}, {PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421883G>C" "" "pathogenic" "" "0000640916" "1" "99" "8" "38279407" "38279407" "subst" "0" "00004" "FGFR1_000173" "g.38279407T>A" "" "{DB:DVD}, {PMID:White 2005:15625620}, {PMID:Farrow 2006:16470795}, {PMID:Riminucci 2003:12952917}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421889T>A" "" "pathogenic" "" "0000640917" "1" "77" "8" "38279407" "38279407" "subst" "4.06078E-6" "00004" "FGFR1_000174" "g.38279407T>C" "" "{DB:DVD}, {PMID:Shaw 2011:21209029}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421889T>C" "" "likely pathogenic" "" "0000640918" "1" "99" "8" "38279426" "38279426" "subst" "0" "00004" "FGFR1_000175" "g.38279426C>A" "" "{DB:DVD}, {PMID:Dodé 2007:17154279}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421908C>A" "" "pathogenic" "" "0000640919" "1" "99" "8" "38279432" "38279435" "del" "0" "00004" "FGFR1_000176" "g.38279432_38279435del" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421914_38421917del" "" "pathogenic" "" "0000640920" "1" "99" "8" "38279434" "38279435" "del" "0" "00004" "FGFR1_000045" "g.38279434_38279435del" "" "{DB:DVD}, {PMID:Laitinen 2011:21682876}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38421916_38421917del" "" "pathogenic" "" "0000640921" "1" "99" "8" "38282027" "38282027" "subst" "0" "00004" "FGFR1_000177" "g.38282027C>T" "" "{DB:DVD}, {PMID:Dodé 2003:12627230}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424509C>T" "" "pathogenic" "" "0000640922" "1" "99" "8" "38282038" "38282038" "subst" "0" "00004" "FGFR1_000178" "g.38282038G>A" "" "{DB:DVD}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424520G>A" "" "pathogenic" "" "0000640923" "1" "99" "8" "38282064" "38282064" "subst" "0.000296439" "00004" "FGFR1_000005" "g.38282064A>G" "" "{DB:DVD}, {PMID:Hurley 2004:14513299}, {PMID:Kress 2000:11173846}, {PMID:Huang 2005:15793702}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424546A>G" "" "pathogenic" "" "0000640924" "1" "99" "8" "38282074" "38282074" "del" "0" "00004" "FGFR1_000179" "g.38282074del" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424556del" "" "pathogenic" "" "0000640925" "1" "99" "8" "38282076" "38282076" "subst" "0" "00004" "FGFR1_000180" "g.38282076T>A" "" "{DB:DVD}, {PMID:Shaw 2011:21209029}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424558T>A" "" "pathogenic" "" "0000640926" "1" "99" "8" "38282097" "38282105" "del" "0" "00004" "FGFR1_000181" "g.38282097_38282105del" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424579_38424587del" "" "pathogenic" "" "0000640927" "1" "99" "8" "38282109" "38282109" "subst" "0" "00004" "FGFR1_000182" "g.38282109G>C" "" "{DB:DVD}, {PMID:Sykiotis 2010:20696889}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424591G>C" "" "pathogenic" "" "0000640928" "1" "99" "8" "38282115" "38282115" "subst" "0" "00004" "FGFR1_000183" "g.38282115G>C" "" "{DB:DVD}, {PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424597G>C" "" "pathogenic" "" "0000640929" "1" "99" "8" "38282119" "38282124" "del" "0" "00004" "FGFR1_000184" "g.38282119_38282124del" "" "{DB:DVD}, {PMID:Bailleul-Forestier 2010:20536592}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424601_38424606del" "" "pathogenic" "" "0000640930" "1" "77" "8" "38282122" "38282122" "subst" "0" "00004" "FGFR1_000185" "g.38282122T>C" "" "{DB:DVD}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424604T>C" "" "likely pathogenic" "" "0000640931" "1" "77" "8" "38282127" "38282128" "del" "0" "00004" "FGFR1_000186" "g.38282127_38282128del" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424609_38424610del" "" "likely pathogenic" "" "0000640932" "1" "99" "8" "38282133" "38282133" "subst" "0" "00004" "FGFR1_000187" "g.38282133C>T" "" "{DB:DVD}, {PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424615C>T" "" "pathogenic" "" "0000640933" "1" "99" "8" "38282142" "38282142" "subst" "0" "00004" "FGFR1_000188" "g.38282142T>C" "" "{DB:DVD}, {PMID:Zhu 2015:25636053}, {PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424624T>C" "" "pathogenic" "" "0000640934" "1" "99" "8" "38282146" "38282146" "subst" "0" "00004" "FGFR1_000189" "g.38282146C>T" "" "{DB:DVD}, {PMID:Albuisson 2005:15605412}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424628C>T" "" "pathogenic" "" "0000640935" "1" "99" "8" "38282154" "38282154" "subst" "0" "00004" "FGFR1_000190" "g.38282154C>T" "" "{DB:DVD}, {PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424636C>T" "" "pathogenic" "" "0000640936" "1" "99" "8" "38282173" "38282173" "subst" "0" "00004" "FGFR1_000191" "g.38282173T>G" "" "{DB:DVD}, {PMID:Balasubramanian 1993:20301509}, {PMID:Laitinen 2011:21682876}, {PMID:Vizeneux 2013:24204987}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424655T>G" "" "pathogenic" "" "0000640937" "1" "99" "8" "38282184" "38282184" "subst" "0" "00004" "FGFR1_000192" "g.38282184C>T" "" "{DB:DVD}, {PMID:Caronia 2011:21247312}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424666C>T" "" "pathogenic" "" "0000640938" "1" "99" "8" "38282202" "38282202" "subst" "0" "00004" "FGFR1_000193" "g.38282202C>T" "" "{DB:DVD}, {PMID:Pitteloud 2006:16764984}, {PMID:Miraoui 2013:23643382}, {PMID:Koika 2013:23276709}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424684C>T" "" "pathogenic" "" "0000640939" "1" "77" "8" "38282203" "38282203" "subst" "0" "00004" "FGFR1_000068" "g.38282203G>A" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}, {PMID:Koika 2013:23276709}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424685G>A" "" "likely pathogenic" "" "0000640940" "1" "99" "8" "38282208" "38282208" "subst" "4.07631E-6" "00004" "FGFR1_000021" "g.38282208G>C" "" "{DB:DVD}, {PMID:Robin 1993:20301628}, {PMID:Roscioli 2000:10861678}, {PMID:Muenke 1994:7874169}, {PMID:Ibrahimi 2004:14613973}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424690G>C" "" "pathogenic" "" "0000640941" "1" "99" "8" "38282211" "38282211" "subst" "0" "00004" "FGFR1_000194" "g.38282211G>A" "" "{DB:DVD}, {PMID:Iglesias 2014:24901346}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424693G>A" "" "pathogenic" "" "0000640942" "1" "99" "8" "38282214" "38282214" "subst" "0" "00004" "FGFR1_000195" "g.38282214C>T" "" "{DB:DVD}, {PMID:Raivio 2009:19820032}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}, {PMID:Falardeau 2008:18596921}, {PMID:Sykiotis 2010:20696889}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424696C>T" "" "pathogenic" "" "0000640943" "1" "99" "8" "38282215" "38282215" "subst" "0" "00004" "FGFR1_000010" "g.38282215G>A" "" "{DB:DVD}, {PMID:Trarbach 2006:16882753}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38424697G>A" "" "pathogenic" "" "0000640944" "1" "99" "8" "38283651" "38283651" "subst" "0" "00004" "FGFR1_000196" "g.38283651A>G" "" "{DB:DVD}, {PMID:Trarbach 2006:16882753}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38426133A>G" "" "pathogenic" "" "0000640945" "1" "99" "8" "38283669" "38283669" "subst" "0" "00004" "FGFR1_000197" "g.38283669A>G" "" "{DB:DVD}, {PMID:Raivio 2009:19820032}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38426151A>G" "" "pathogenic" "" "0000640946" "1" "99" "8" "38283675" "38283675" "subst" "0" "00004" "FGFR1_000198" "g.38283675C>T" "" "{DB:DVD}, {PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38426157C>T" "" "pathogenic" "" "0000640947" "1" "99" "8" "38283676" "38283676" "subst" "0" "00004" "FGFR1_000048" "g.38283676C>T" "" "{DB:DVD}, {PMID:Pitteloud 2006:16606836}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38426158C>T" "" "pathogenic" "" "0000640948" "1" "99" "8" "38283703" "38283703" "subst" "0" "00004" "FGFR1_000199" "g.38283703A>C" "" "{DB:DVD}, {PMID:Raivio 2009:19820032}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38426185A>C" "" "pathogenic" "" "0000640949" "1" "99" "8" "38283713" "38283713" "subst" "0" "00004" "FGFR1_000200" "g.38283713G>C" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38426195G>C" "" "pathogenic" "" "0000640950" "1" "99" "8" "38283715" "38283715" "subst" "0" "00004" "FGFR1_000201" "g.38283715C>G" "" "{DB:DVD}, {PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38426197C>G" "" "pathogenic" "" "0000640951" "1" "99" "8" "38283735" "38283735" "subst" "0" "00004" "FGFR1_000202" "g.38283735A>G" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38426217A>G" "" "pathogenic" "" "0000640952" "1" "77" "8" "38283759" "38283759" "subst" "0" "00004" "FGFR1_000203" "g.38283759C>T" "" "{DB:DVD}, {PMID:Laitinen 2011:21682876}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38426241C>T" "" "likely pathogenic" "" "0000640953" "1" "77" "8" "38283760" "38283760" "subst" "0" "00004" "FGFR1_000204" "g.38283760G>A" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38426242G>A" "" "likely pathogenic" "" "0000640954" "1" "77" "8" "38285469" "38285469" "subst" "0" "00004" "FGFR1_000205" "g.38285469G>T" "" "{DB:DVD}, {PMID:Sykiotis 2010:20696889}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38427951G>T" "" "likely pathogenic" "" "0000640955" "1" "99" "8" "38285488" "38285488" "subst" "0" "00004" "FGFR1_000206" "g.38285488A>G" "" "{DB:DVD}, {PMID:Simonis 2013:23812909}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38427970A>G" "" "pathogenic" "" "0000640956" "1" "99" "8" "38285490" "38285490" "subst" "0" "00004" "FGFR1_000207" "g.38285490C>T" "" "{DB:DVD}, {PMID:Doknic 2012:22801565}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38427972C>T" "" "pathogenic" "" "0000640957" "1" "99" "8" "38285495" "38285495" "subst" "0" "00004" "FGFR1_000208" "g.38285495G>A" "" "{DB:DVD}, {PMID:Balasubramanian 1993:20301509}, {PMID:Laitinen 2011:21682876}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38427977G>A" "" "pathogenic" "" "0000640958" "1" "99" "8" "38285527" "38285527" "subst" "0" "00004" "FGFR1_000209" "g.38285527C>G" "" "{DB:DVD}, {PMID:Zenaty 2006:16757108}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428009C>G" "" "pathogenic" "" "0000640959" "1" "99" "8" "38285539" "38285539" "subst" "0" "00004" "FGFR1_000210" "g.38285539A>G" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428021A>G" "" "pathogenic" "" "0000640960" "1" "99" "8" "38285554" "38285554" "subst" "4.06108E-6" "00004" "FGFR1_000211" "g.38285554G>A" "" "{DB:DVD}, {PMID:Shaw 2011:21209029}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428036G>A" "" "pathogenic" "" "0000640961" "1" "99" "8" "38285561" "38285561" "subst" "0" "00004" "FGFR1_000212" "g.38285561C>A" "" "{DB:DVD}, {PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}, {PMID:Thurman 2012:22842457}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428043C>A" "" "pathogenic" "" "0000640962" "1" "99" "8" "38285566" "38285566" "subst" "0" "00004" "FGFR1_000213" "g.38285566A>G" "" "{DB:DVD}, {PMID:Simonis 2013:23812909}, {PMID:Solomon 1993:20301702}, {PMID:Vilain 2009:19504604}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428048A>G" "" "pathogenic" "" "0000640963" "1" "99" "8" "38285578" "38285578" "subst" "0" "00004" "FGFR1_000214" "g.38285578A>G" "" "{DB:DVD}, {PMID:Jarzabek 2012:23154428}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428060A>G" "" "pathogenic" "" "0000640964" "1" "99" "8" "38285869" "38285869" "subst" "1.6407E-5" "00004" "FGFR1_000215" "g.38285869C>T" "" "{DB:DVD}, {PMID:Balasubramanian 1993:20301509}, {PMID:Laitinen 2011:21682876}, {PMID:Vizeneux 2013:24204987}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428351C>T" "" "pathogenic" "" "0000640965" "1" "99" "8" "38285886" "38285889" "del" "0" "00004" "FGFR1_000216" "g.38285886_38285889del" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428368_38428371del" "" "pathogenic" "" "0000640966" "1" "77" "8" "38285890" "38285890" "subst" "8.61454E-5" "00004" "FGFR1_000217" "g.38285890G>C" "" "{DB:DVD}, {PMID:Costa-Barbosa 2013:23533228}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428372G>C" "" "likely pathogenic" "" "0000640967" "1" "99" "8" "38285894" "38285894" "subst" "0" "00004" "FGFR1_000218" "g.38285894C>A" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428376C>A" "" "pathogenic" "" "0000640968" "1" "99" "8" "38285896" "38285896" "subst" "4.10216E-6" "00004" "FGFR1_000219" "g.38285896T>C" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428378T>C" "" "pathogenic" "" "0000640969" "1" "99" "8" "38285900" "38285900" "subst" "0" "00004" "FGFR1_000220" "g.38285900C>A" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428382C>A" "" "pathogenic" "" "0000640970" "1" "99" "8" "38285905" "38285905" "subst" "0" "00004" "FGFR1_000221" "g.38285905G>T" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428387G>T" "" "pathogenic" "" "0000640971" "1" "99" "8" "38285926" "38285926" "subst" "0.000139558" "00004" "FGFR1_000024" "g.38285926T>G" "" "{DB:DVD}, {PMID:Albuisson 2005:15605412}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38428408T>G" "" "pathogenic" "" "0000640972" "1" "99" "8" "38287208" "38287208" "subst" "5.7918E-5" "00004" "FGFR1_000222" "g.38287208T>C" "" "{DB:DVD}, {PMID:Raivio 2009:19820032}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429690T>C" "" "pathogenic" "" "0000640973" "1" "77" "8" "38287211" "38287211" "subst" "0" "00004" "FGFR1_000223" "g.38287211A>C" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429693A>C" "" "likely pathogenic" "" "0000640974" "1" "99" "8" "38287212" "38287212" "subst" "0" "00004" "FGFR1_000224" "g.38287212C>T" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429694C>T" "" "pathogenic" "" "0000640975" "1" "99" "8" "38287231" "38287231" "del" "0" "00004" "FGFR1_000225" "g.38287231del" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429713del" "" "pathogenic" "" "0000640976" "1" "99" "8" "38287232" "38287232" "dup" "0" "00004" "FGFR1_000226" "g.38287232dup" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429714dup" "" "pathogenic" "" "0000640977" "1" "99" "8" "38287238" "38287238" "subst" "0" "00004" "FGFR1_000227" "g.38287238G>T" "" "{DB:DVD}, {PMID:Sato 2004:15001591}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429720G>T" "" "pathogenic" "" "0000640978" "1" "99" "8" "38287239" "38287239" "subst" "0" "00004" "FGFR1_000228" "g.38287239A>T" "" "{DB:DVD}, {PMID:Izumi 2014:25064402}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429721A>T" "" "pathogenic" "" "0000640979" "1" "99" "8" "38287255" "38287255" "subst" "0" "00004" "FGFR1_000229" "g.38287255G>T" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429737G>T" "" "pathogenic" "" "0000640980" "1" "99" "8" "38287255" "38287256" "ins" "0" "00004" "FGFR1_000230" "g.38287255_38287256insGG" "" "{DB:DVD}, {PMID:Dodé 2003:12627230}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429737_38429738insGG" "" "pathogenic" "" "0000640981" "1" "99" "8" "38287256" "38287256" "subst" "0" "00004" "FGFR1_000231" "g.38287256C>A" "" "{DB:DVD}, {PMID:Dodé 2007:17154279}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429738C>A" "" "pathogenic" "" "0000640982" "1" "77" "8" "38287257" "38287257" "subst" "0" "00004" "FGFR1_000232" "g.38287257A>C" "" "{DB:DVD}, {PMID:Quaynor 2011:22035731}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429739A>C" "" "likely pathogenic" "" "0000640983" "1" "99" "8" "38287262" "38287262" "subst" "0" "00004" "FGFR1_000233" "g.38287262T>C" "" "{DB:DVD}, {PMID:Zhu 2015:25636053}, {PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}, {PMID:Raivio 2009:19820032}, {PMID:Sykiotis 2010:20696889}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429744T>C" "" "pathogenic" "" "0000640984" "1" "99" "8" "38287268" "38287268" "subst" "0" "00004" "FGFR1_000234" "g.38287268C>T" "" "{DB:DVD}, {PMID:Dodé 2003:12627230}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429750C>T" "" "pathogenic" "" "0000640985" "1" "77" "8" "38287269" "38287269" "subst" "0" "00004" "FGFR1_000006" "g.38287269C>T" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429751C>T" "" "likely pathogenic" "" "0000640986" "1" "99" "8" "38287272" "38287272" "subst" "0" "00004" "FGFR1_000235" "g.38287272A>G" "" "{DB:DVD}, {PMID:Vizeneux 2013:24204987}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429754A>G" "" "pathogenic" "" "0000640987" "1" "99" "8" "38287311" "38287312" "del" "0" "00004" "FGFR1_000236" "g.38287311_38287312del" "" "{DB:DVD}, {PMID:Shaw 2011:21209029}, {PMID:Entrala-Bernal 2014:24776628}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429793_38429794del" "" "pathogenic" "" "0000640988" "1" "99" "8" "38287326" "38287326" "subst" "0" "00004" "FGFR1_000051" "g.38287326G>A" "" "{DB:DVD}, {PMID:Pitteloud 2006:16764984}, {PMID:Rajith 2013:23329143}, {PMID:Miraoui 2013:23643382}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429808G>A" "" "pathogenic" "" "0000640989" "1" "77" "8" "38287327" "38287327" "subst" "0.000114548" "00004" "FGFR1_000237" "g.38287327G>C" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}, {PMID:Rajith 2013:23329143}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429809G>C" "" "likely pathogenic" "" "0000640990" "1" "77" "8" "38287343" "38287357" "dup" "0" "00004" "FGFR1_000238" "g.38287343_38287357dup" "" "{DB:DVD}, {PMID:Shaw 2011:21209029}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429825_38429839dup" "" "likely pathogenic" "" "0000640991" "1" "99" "8" "38287350" "38287350" "subst" "0" "00004" "FGFR1_000239" "g.38287350C>G" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429832C>G" "" "pathogenic" "" "0000640992" "1" "99" "8" "38287391" "38287397" "del" "0" "00004" "FGFR1_000240" "g.38287391_38287397del" "" "{DB:DVD}, {PMID:Shaw 2011:21209029}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429873_38429879del" "" "pathogenic" "" "0000640993" "1" "99" "8" "38287416" "38287416" "subst" "0" "00004" "FGFR1_000241" "g.38287416C>T" "" "{DB:DVD}, {PMID:Laitinen 2011:21682876}, {PMID:Balasubramanian 1993:20301509}, {PMID:Trarbach 2006:16882753}, {PMID:Rajith 2013:23329143}, {PMID:Hero 2015:24841555}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38429898C>T" "" "pathogenic" "" "0000640994" "1" "99" "8" "38314872" "38314872" "subst" "0" "00004" "FGFR1_000242" "g.38314872A>T" "" "{DB:DVD}, {PMID:Laitinen 2012:22724017}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38457354A>T" "" "pathogenic" "" "0000640995" "1" "77" "8" "38314918" "38314918" "subst" "0" "00004" "FGFR1_000243" "g.38314918G>C" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38457400G>C" "" "likely pathogenic" "" "0000640996" "1" "99" "8" "38314938" "38314938" "del" "0" "00004" "FGFR1_000244" "g.38314938del" "" "{DB:DVD}, {PMID:Qin 2014:25619354}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38457420del" "" "pathogenic" "" "0000640997" "1" "99" "8" "38314953" "38314953" "subst" "0" "00004" "FGFR1_000245" "g.38314953C>T" "" "{DB:DVD}, {PMID:Dodé 2009:18985070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38457435C>T" "" "pathogenic" "" "0000640998" "1" "99" "8" "38314954" "38314954" "subst" "0" "00004" "FGFR1_000246" "g.38314954C>T" "" "{DB:DVD}, {PMID:Laitinen 2011:21682876}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38457436C>T" "" "pathogenic" "" "0000640999" "1" "77" "8" "38314965" "38314965" "subst" "4.06822E-6" "00004" "FGFR1_000247" "g.38314965C>T" "" "{DB:DVD}, {PMID:Marcos 2014:25077900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.38457447C>T" "" "likely pathogenic" "" "0000652487" "1" "30" "8" "38271547" "38271547" "subst" "0.0156534" "03575" "FGFR1_000028" "g.38271547G>A" "38/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "38 heterozygous, no homozygous; {DB:CLININrs4647904}" "Germline" "" "rs4647904" "0" "" "" "g.38414029G>A" "" "likely benign" "" "0000652488" "1" "30" "8" "38283643" "38283643" "subst" "4.46733E-5" "03575" "FGFR1_000248" "g.38283643C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs186746130}" "Germline" "" "rs186746130" "0" "" "" "g.38426125C>T" "" "likely benign" "" "0000656085" "0" "10" "8" "38272427" "38272427" "subst" "5.70181E-5" "02330" "FGFR1_000249" "g.38272427A>G" "" "" "" "FGFR1(NM_023110.3):c.1855-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38414909A>G" "" "benign" "" "0000656086" "0" "90" "8" "38273522" "38273522" "subst" "0" "02327" "FGFR1_000250" "g.38273522G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38416004G>A" "" "pathogenic" "" "0000656087" "0" "90" "8" "38273572" "38273572" "subst" "0" "02327" "FGFR1_000251" "g.38273572A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38416054A>T" "" "pathogenic" "" "0000656088" "0" "10" "8" "38279295" "38279295" "subst" "0.00147443" "02330" "FGFR1_000252" "g.38279295G>A" "" "" "" "FGFR1(NM_023110.3):c.1081+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38421777G>A" "" "benign" "" "0000656089" "0" "10" "8" "38279385" "38279385" "subst" "8.12137E-6" "02330" "FGFR1_000253" "g.38279385C>T" "" "" "" "FGFR1(NM_023110.3):c.1011G>A (p.G337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38421867C>T" "" "benign" "" "0000656090" "0" "70" "8" "38283702" "38283702" "subst" "0" "02327" "FGFR1_000254" "g.38283702T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38426184T>C" "" "likely pathogenic" "" "0000656091" "0" "30" "8" "38285931" "38285933" "del" "0" "02325" "FGFR1_000255" "g.38285931_38285933del" "" "" "" "FGFR1(NM_001174064.2):c.372_374delTGA (p.D125del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38428413_38428415del" "" "likely benign" "" "0000666234" "0" "90" "8" "38271797" "38271797" "subst" "0" "03685" "FGFR1_000102" "g.38271797C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38414279C>T" "" "pathogenic (dominant)" "" "0000666235" "0" "90" "8" "38273419" "38273419" "subst" "0" "03685" "FGFR1_000262" "g.38273419G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38415901G>T" "" "pathogenic (dominant)" "" "0000666236" "0" "90" "8" "38275745" "38275745" "subst" "0" "03685" "FGFR1_000261" "g.38275745C>A" "" "" "" "g.38275745C>T" "" "Germline" "" "" "0" "" "" "g.38418227C>A" "" "pathogenic (dominant)" "" "0000666237" "0" "90" "8" "38279353" "38279353" "subst" "0" "03685" "FGFR1_000260" "g.38279353C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38421835C>T" "" "pathogenic (dominant)" "" "0000666238" "0" "90" "8" "38282076" "38282076" "subst" "0" "03685" "FGFR1_000259" "g.38282076T>C" "" "" "" "g.38279353C>T" "" "Germline" "" "" "0" "" "" "g.38424558T>C" "" "pathogenic (dominant)" "" "0000666239" "0" "90" "8" "38282076" "38282076" "subst" "0" "03685" "FGFR1_000259" "g.38282076T>C" "" "" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38426190C>T" "" "pathogenic (dominant)" "" "0000666240" "0" "90" "8" "38283760" "38283760" "subst" "0" "03685" "FGFR1_000204" "g.38283760G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38426242G>A" "" "pathogenic (dominant)" "" "0000666241" "0" "90" "8" "38287269" "38287269" "subst" "0" "03685" "FGFR1_000258" "g.38287269C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38429751C>G" "" "pathogenic (dominant)" "" "0000666242" "0" "90" "8" "38287347" "38287347" "subst" "0" "03685" "FGFR1_000257" "g.38287347C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38429829C>T" "" "pathogenic (dominant)" "" "0000666243" "0" "90" "8" "38287350" "38287350" "subst" "0" "03685" "FGFR1_000256" "g.38287350C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38429832C>T" "" "pathogenic (dominant)" "" "0000678384" "0" "90" "8" "38271518" "38271518" "subst" "0" "02327" "LETM2_000008" "g.38271518C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678385" "0" "10" "8" "38285460" "38285460" "subst" "0.00807002" "02330" "FGFR1_000023" "g.38285460G>A" "" "" "" "FGFR1(NM_001174064.2):c.576C>T (p.D192=), FGFR1(NM_023110.3):c.600C>T (p.D200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678386" "0" "90" "8" "38287262" "38287262" "subst" "0" "02327" "FGFR1_000233" "g.38287262T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690258" "0" "50" "8" "38275777" "38275777" "subst" "1.21845E-5" "01943" "FGFR1_000142" "g.38275777C>T" "" "" "" "FGFR1(NM_001174064.1):c.1369G>A (p.E457K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690259" "0" "30" "8" "38285931" "38285933" "dup" "0" "02325" "FGFR1_000263" "g.38285931_38285933dup" "" "" "" "FGFR1(NM_023110.3):c.396_398dupTGA (p.D133dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690260" "0" "10" "8" "38297812" "38297812" "subst" "8.49914E-5" "02330" "FGFR1_000264" "g.38297812C>T" "" "" "" "FGFR1(NM_023110.3):c.92-10346G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690261" "0" "50" "8" "38318619" "38318619" "dup" "0" "01943" "FGFR1_000265" "g.38318619dup" "" "" "" "FGFR1(NM_001174067.1):c.7dupG (p.A3Gfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000699922" "0" "50" "8" "0" "0" "" "0" "00006" "RP1_000000" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000703895" "3" "70" "8" "38271255" "38271255" "subst" "9.35735E-5" "00006" "FGFR1_000266" "g.38271255G>A" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.38413737G>A" "" "likely pathogenic" "" "0000708484" "0" "90" "8" "38285584" "38285584" "del" "0" "01741" "FGFR1_000267" "g.38285584del" "" "" "" "479delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.38428066del" "" "pathogenic" "" "0000721971" "0" "50" "8" "38275767" "38275767" "subst" "1.62462E-5" "02329" "FGFR1_000017" "g.38275767C>T" "" "" "" "FGFR1(NM_001174064.2):c.1379G>A (p.R460H), FGFR1(NM_001174067.1):c.1502G>A (p.(Arg501His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721972" "0" "30" "8" "38275808" "38275808" "subst" "0.000410202" "01943" "FGFR1_000042" "g.38275808C>A" "" "" "" "FGFR1(NM_001174063.1):c.1362G>T (p.(Met454Ile)), FGFR1(NM_001174064.1):c.1338G>T (p.M446I), FGFR1(NM_001174064.2):c.1338G>T (p.M446I), FGFR1(NM_02...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721973" "0" "70" "8" "38282194" "38282194" "subst" "0" "02327" "FGFR1_000268" "g.38282194G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721974" "0" "70" "8" "38283708" "38283708" "subst" "0" "01943" "FGFR1_000259" "g.38283708C>T" "" "" "" "FGFR1(NM_001174064.1):c.653G>A (p.G218D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721975" "0" "90" "8" "38283708" "38283708" "subst" "0" "02327" "FGFR1_000259" "g.38283708C>T" "" "" "" "FGFR1(NM_001174064.1):c.653G>A (p.G218D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721976" "0" "50" "8" "38285867" "38285867" "subst" "0" "02330" "FGFR1_000269" "g.38285867T>C" "" "" "" "FGFR1(NM_023110.3):c.445A>G (p.M149V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721977" "0" "30" "8" "38287238" "38287238" "subst" "0.00131813" "01804" "FGFR1_000071" "g.38287238G>A" "" "" "" "FGFR1(NM_001174063.1):c.320C>T (p.(Ser107Leu)), FGFR1(NM_001174064.2):c.296C>T (p.S99L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000794216" "0" "70" "8" "38275867" "38275867" "subst" "0" "03508" "FGFR1_000270" "g.38275867T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000803629" "0" "30" "8" "38271187" "38271187" "subst" "2.4708E-5" "02326" "LETM2_000002" "g.38271187G>A" "" "" "" "FGFR1(NM_023110.2):c.2428C>T (p.(His810Tyr), p.H810Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803630" "0" "50" "8" "38272089" "38272089" "subst" "0" "02327" "FGFR1_000271" "g.38272089T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803632" "0" "10" "8" "38287255" "38287255" "subst" "3.00003E-5" "02330" "FGFR1_000272" "g.38287255G>A" "" "" "" "FGFR1(NM_023110.3):c.303C>T (p.C101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803633" "0" "10" "8" "38287381" "38287381" "subst" "0.000261016" "02330" "FGFR1_000273" "g.38287381G>A" "" "" "" "FGFR1(NM_023110.3):c.177C>T (p.D59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803634" "0" "30" "8" "38297827" "38297827" "subst" "3.11848E-5" "01804" "FGFR1_000274" "g.38297827C>T" "" "" "" "FGFR1(NM_001174064.1):c.64G>A (p.(Glu22Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803635" "0" "30" "8" "38314997" "38314997" "subst" "2.46358E-5" "01804" "FGFR1_000275" "g.38314997C>T" "" "" "" "FGFR1(NM_023110.2):c.-33G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000843648" "0" "90" "8" "38279434" "38279435" "del" "0" "03779" "FGFR1_000045" "g.38279434_38279435del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000851913" "0" "70" "8" "38271519" "38271519" "subst" "0" "02327" "LETM2_000010" "g.38271519A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000851914" "0" "90" "8" "38272358" "38272358" "subst" "0" "02327" "FGFR1_000114" "g.38272358A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851915" "0" "90" "8" "38277194" "38277194" "subst" "0" "02329" "FGFR1_000152" "g.38277194A>G" "" "" "" "FGFR1(NM_023110.3):c.1141T>C (p.C381R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851916" "0" "10" "8" "38285433" "38285434" "dup" "0" "02330" "FGFR1_000276" "g.38285433_38285434dup" "" "" "" "FGFR1(NM_023110.3):c.621+12_621+13dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851917" "0" "50" "8" "38285926" "38285926" "subst" "0.000139558" "01943" "FGFR1_000024" "g.38285926T>G" "" "" "" "FGFR1(NM_001174063.1):c.386A>C (p.(Asp129Ala)), FGFR1(NM_023110.2):c.386A>C (p.D129A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851918" "0" "10" "8" "38314890" "38314890" "subst" "0.000183993" "02330" "FGFR1_000072" "g.38314890C>T" "" "" "" "FGFR1(NM_023110.2):c.75G>A (p.P25=), FGFR1(NM_023110.3):c.75G>A (p.P25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861205" "0" "50" "8" "38271225" "38271225" "subst" "0" "01804" "LETM2_000009" "g.38271225G>A" "" "" "" "FGFR1(NM_001174063.1):c.2384C>T (p.(Ser795Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861206" "0" "30" "8" "38287212" "38287212" "subst" "0" "01943" "FGFR1_000224" "g.38287212C>T" "" "" "" "FGFR1(NM_001174064.1):c.322G>A (p.V108I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888333" "0" "50" "8" "38271244" "38271245" "del" "8.14292E-5" "01804" "LETM2_000011" "g.38271244_38271245del" "" "" "" "FGFR1(NM_001174063.1):c.2364_2365del (p.(Glu790Glyfs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888334" "0" "30" "8" "38271433" "38271433" "subst" "7.73773E-5" "02330" "FGFR1_000080" "g.38271433T>C" "" "" "" "FGFR1(NM_023110.2):c.2292+3A>G (p.?), FGFR1(NM_023110.3):c.2292+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888335" "0" "50" "8" "38271461" "38271461" "subst" "2.03426E-5" "01804" "LETM2_000004" "g.38271461C>T" "" "" "" "FGFR1(NM_001174063.1):c.2261G>A (p.(Arg754His)), FGFR1(NM_001174064.1):c.2237G>A (p.R746H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888336" "0" "10" "8" "38271546" "38271546" "subst" "8.95525E-5" "02330" "LETM2_000012" "g.38271546G>A" "" "" "" "FGFR1(NM_023110.3):c.2187-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888337" "0" "30" "8" "38271546" "38271546" "subst" "8.95525E-5" "02325" "LETM2_000012" "g.38271546G>A" "" "" "" "FGFR1(NM_023110.3):c.2187-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888338" "0" "10" "8" "38272435" "38272435" "subst" "0.000665659" "02330" "FGFR1_000277" "g.38272435G>A" "" "" "" "FGFR1(NM_023110.3):c.1855-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888339" "0" "30" "8" "38275808" "38275808" "subst" "0.000410202" "01804" "FGFR1_000042" "g.38275808C>A" "" "" "" "FGFR1(NM_001174063.1):c.1362G>T (p.(Met454Ile)), FGFR1(NM_001174064.1):c.1338G>T (p.M446I), FGFR1(NM_001174064.2):c.1338G>T (p.M446I), FGFR1(NM_02...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888340" "0" "30" "8" "38275808" "38275808" "subst" "0.000410202" "02326" "FGFR1_000042" "g.38275808C>A" "" "" "" "FGFR1(NM_001174063.1):c.1362G>T (p.(Met454Ile)), FGFR1(NM_001174064.1):c.1338G>T (p.M446I), FGFR1(NM_001174064.2):c.1338G>T (p.M446I), FGFR1(NM_02...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888341" "0" "30" "8" "38279388" "38279388" "subst" "0" "02326" "FGFR1_000278" "g.38279388T>C" "" "" "" "FGFR1(NM_023110.2):c.1008A>G (p.A336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888342" "0" "50" "8" "38282080" "38282080" "subst" "0" "02325" "FGFR1_000279" "g.38282080C>T" "" "" "" "FGFR1(NM_023110.3):c.883G>A (p.V295M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888343" "0" "70" "8" "38285617" "38285617" "subst" "0" "02327" "FGFR1_000280" "g.38285617C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888344" "0" "50" "8" "38285955" "38285955" "subst" "0" "02329" "FGFR1_000281" "g.38285955T>C" "" "" "" "FGFR1(NM_023110.3):c.359-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912951" "0" "50" "8" "38271456" "38271456" "subst" "1.22036E-5" "02327" "FGFR1_000012" "g.38271456C>T" "" "" "" "FGFR1(NM_001174064.1):c.2242G>A (p.V748M), FGFR1(NM_023110.3):c.2272G>A (p.(Val758Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912952" "0" "30" "8" "38275808" "38275808" "subst" "0.000410202" "02330" "FGFR1_000042" "g.38275808C>A" "" "" "" "FGFR1(NM_001174063.1):c.1362G>T (p.(Met454Ile)), FGFR1(NM_001174064.1):c.1338G>T (p.M446I), FGFR1(NM_001174064.2):c.1338G>T (p.M446I), FGFR1(NM_02...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924870" "0" "50" "8" "38283708" "38283708" "subst" "0" "02325" "FGFR1_000282" "g.38283708C>A" "" "" "" "FGFR1(NM_023110.3):c.677G>T (p.G226V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929444" "0" "10" "8" "38277066" "38277066" "subst" "0.000207243" "02330" "FGFR1_000283" "g.38277066C>T" "" "" "" "FGFR1(NM_001174064.2):c.1245G>A (p.L415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929445" "0" "50" "8" "38287346" "38287346" "subst" "0" "02327" "FGFR1_000284" "g.38287346A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946834" "21" "70" "8" "38287455" "38287455" "subst" "3.39515E-5" "00006" "FGFR1_000285" "g.38287455C>T" "" "{PMID:Yao 2023:37833774}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38429937C>T" "" "likely pathogenic (dominant)" "" "0000946835" "11" "70" "8" "38272409" "38272409" "subst" "0" "00006" "FGFR1_000119" "g.38272409C>T" "" "{PMID:Yao 2023:37833774}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38414891C>T" "" "pathogenic (dominant)" "" "0000949073" "0" "90" "8" "38272301" "38272304" "del" "0" "02327" "FGFR1_000286" "g.38272301_38272304del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949074" "0" "50" "8" "38273533" "38273533" "subst" "0" "02327" "FGFR1_000287" "g.38273533C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949075" "0" "50" "8" "38285869" "38285869" "subst" "1.6407E-5" "01804" "FGFR1_000215" "g.38285869C>T" "" "" "" "FGFR1(NM_023110.2):c.443G>A (p.(Arg148His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964987" "0" "30" "8" "38271254" "38271254" "subst" "0.000378393" "02330" "LETM2_000013" "g.38271254C>T" "" "" "" "FGFR1(NM_001174064.2):c.2331G>A (p.T777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964988" "0" "70" "8" "38271692" "38271692" "subst" "0" "02327" "LETM2_000014" "g.38271692G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978194" "0" "30" "8" "38271151" "38271151" "subst" "0.000272403" "01804" "FGFR1_000076" "g.38271151G>A" "" "" "" "FGFR1(NM_023110.3):c.2464C>T (p.(Arg822Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978195" "0" "30" "8" "38271456" "38271456" "subst" "1.22036E-5" "01804" "FGFR1_000012" "g.38271456C>T" "" "" "" "FGFR1(NM_001174064.1):c.2242G>A (p.V748M), FGFR1(NM_023110.3):c.2272G>A (p.(Val758Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978196" "0" "50" "8" "38287385" "38287385" "subst" "1.2236E-5" "02325" "FGFR1_000288" "g.38287385C>T" "" "" "" "FGFR1(NM_023110.3):c.173G>A (p.R58Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978197" "0" "50" "8" "38287398" "38287398" "subst" "1.22409E-5" "01804" "FGFR1_000289" "g.38287398G>A" "" "" "" "FGFR1(NM_023110.3):c.160C>T (p.(Arg54Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997150" "0" "30" "8" "38271271" "38271271" "subst" "1.62686E-5" "01804" "LETM2_000015" "g.38271271C>T" "" "" "" "FGFR1(NM_001174067.1):c.2437G>A (p.(Asp813Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997151" "0" "30" "8" "38271433" "38271433" "subst" "7.73773E-5" "01804" "FGFR1_000080" "g.38271433T>C" "" "" "" "FGFR1(NM_023110.2):c.2292+3A>G (p.?), FGFR1(NM_023110.3):c.2292+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997152" "0" "50" "8" "38271545" "38271545" "subst" "0" "01804" "LETM2_000016" "g.38271545C>A" "" "" "" "FGFR1(NM_023110.2):c.2187-4G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997153" "0" "70" "8" "38271757" "38271757" "subst" "0" "01804" "FGFR1_000097" "g.38271757G>A" "" "" "" "FGFR1(NM_023110.2):c.2099C>T (p.(Pro700Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997154" "0" "50" "8" "38272409" "38272409" "subst" "0" "01804" "FGFR1_000290" "g.38272409C>A" "" "" "" "FGFR1(NM_001174067.1):c.1958G>T (p.(Arg653Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997155" "0" "50" "8" "38274872" "38274872" "subst" "0" "01804" "FGFR1_000291" "g.38274872C>G" "" "" "" "FGFR1(NM_001174067.1):c.1708G>C (p.(Gly570Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997156" "0" "50" "8" "38274933" "38274933" "subst" "2.43881E-5" "01804" "FGFR1_000292" "g.38274933C>T" "" "" "" "FGFR1(NM_023110.2):c.1554G>A (p.(Ser518Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997157" "0" "30" "8" "38275767" "38275767" "subst" "1.62462E-5" "01804" "FGFR1_000017" "g.38275767C>T" "" "" "" "FGFR1(NM_001174064.2):c.1379G>A (p.R460H), FGFR1(NM_001174067.1):c.1502G>A (p.(Arg501His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997158" "0" "30" "8" "38277164" "38277164" "subst" "4.06088E-6" "01804" "FGFR1_000293" "g.38277164C>T" "" "" "" "FGFR1(NM_023110.2):c.1171G>A (p.(Val391Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997159" "0" "30" "8" "38283739" "38283739" "subst" "4.06124E-6" "01804" "FGFR1_000294" "g.38283739T>C" "" "" "" "FGFR1(NM_001174067.1):c.739A>G (p.(Ile247Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997160" "0" "50" "8" "38285925" "38285933" "dup" "0" "01804" "FGFR1_000295" "g.38285925_38285933dup" "" "" "" "FGFR1(NM_023110.2):c.390_398dupTGATGATGA (p.(Asp131_Asp133dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997161" "0" "30" "8" "38314899" "38314899" "subst" "0.00115049" "01804" "FGFR1_000073" "g.38314899C>G" "" "" "" "FGFR1(NM_023110.2):c.66G>C (p.(Arg22Ser)), FGFR1(NM_023110.3):c.66G>C (p.R22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997162" "0" "50" "8" "38318781" "38318781" "subst" "0" "01804" "FGFR1_000296" "g.38318781A>C" "" "" "" "FGFR1(NM_001174067.1):c.-149-8T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014444" "0" "70" "8" "38272344" "38272344" "subst" "0" "02327" "FGFR1_000297" "g.38272344G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001017846" "0" "90" "8" "38287262" "38287262" "subst" "0" "04663" "FGFR1_000233" "g.38287262T>C" "" "{PMID:Graziani 2024:38679587}" "" "" "" "Germline" "no" "" "0" "" "" "g.38429744T>C" "" "pathogenic (dominant)" "ACMG" "0001025518" "0" "90" "8" "38282208" "38282208" "subst" "4.07631E-6" "02329" "FGFR1_000021" "g.38282208G>C" "" "" "" "FGFR1(NM_001174067.1):c.848C>G (p.(Pro283Arg)), FGFR1(NM_023110.2):c.755C>G (p.P252R), FGFR1(NM_023110.3):c.755C>G (p.P252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001029902" "0" "50" "8" "38273534" "38273534" "subst" "0" "03779" "FGFR1_000015" "g.38273534G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs2150590069" "0" "" "" "" "" "VUS" "" "0001030325" "0" "50" "8" "38314966" "38314966" "subst" "0" "03779" "FGFR1_000298" "g.38314966C>A" "" "" "" "" "" "Unknown" "" "rs2151348395" "0" "" "" "" "" "VUS" "" "0001036952" "0" "30" "8" "38285434" "38285434" "subst" "2.03127E-5" "01804" "FGFR1_000299" "g.38285434C>T" "" "" "" "FGFR1(NM_023110.3):c.621+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036953" "0" "30" "8" "38285620" "38285620" "subst" "0.000874425" "02326" "FGFR1_000050" "g.38285620G>C" "" "" "" "FGFR1(NM_001174064.1):c.425-9C>G, FGFR1(NM_001174064.2):c.425-9C>G, FGFR1(NM_023110.2):c.449-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036954" "0" "50" "8" "38287464" "38287464" "subst" "0" "01804" "FGFR1_000300" "g.38287464G>C" "" "" "" "FGFR1(NM_023110.3):c.94C>G (p.(Gln32Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036955" "0" "30" "8" "38314918" "38314918" "subst" "8.14558E-6" "01804" "FGFR1_000301" "g.38314918G>A" "" "" "" "FGFR1(NM_023110.3):c.47C>T (p.(Ala16Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046162" "0" "50" "8" "38283707" "38283707" "subst" "0" "02325" "FGFR1_000302" "g.38283707G>A" "" "" "" "FGFR1(NM_023110.3):c.678C>T (p.G226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048001" "0" "70" "8" "38287271" "38287271" "subst" "0" "03779" "FGFR1_000304" "g.38287271G>C" "" "" "" "" "" "Unknown" "" "rs2150958177" "0" "" "" "" "" "likely pathogenic" "" "0001048018" "0" "50" "8" "38275833" "38275833" "subst" "6.09286E-5" "03779" "FGFR1_000303" "g.38275833C>T" "" "" "" "" "" "Unknown" "" "rs758138124" "0" "" "" "" "" "VUS" "" "0001048202" "0" "50" "8" "38314948" "38314948" "subst" "0" "03779" "FGFR1_000305" "g.38314948C>T" "" "" "" "" "" "Unknown" "" "rs2151346848" "0" "" "" "" "" "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 FGFR1 ## Count = 395 "{{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}}" "0000065308" "00024177" "70" "1664" "-2" "1664" "-2" "c.1664-2A>T" "r.spl" "p.?" "12i" "0000097071" "00024177" "90" "1966" "0" "1966" "0" "c.1966A>G" "r.(?)" "p.(Lys656Glu)" "14" "0000097073" "00024177" "90" "1638" "0" "1638" "0" "c.1638C>A" "r.(?)" "p.(Asn546Lys)" "12" "0000097075" "00024177" "90" "1638" "0" "1638" "0" "c.1638C>A" "r.(?)" "p.(Asn546Lys)" "12" "0000097077" "00024177" "90" "1966" "0" "1966" "0" "c.1966A>G" "r.(?)" "p.(Lys656Glu)" "14" "0000097078" "00024177" "90" "1638" "0" "1638" "0" "c.1638C>A" "r.(?)" "p.(Asn546Lys)" "12" "0000132555" "00024177" "90" "2059" "0" "2059" "0" "c.2059G>M" "r.(?)" "p.(Gly687Arg)" "16" "0000150740" "00024177" "50" "899" "0" "899" "0" "c.899T>C" "r.(?)" "p.(Ile300Thr)" "7" "0000154030" "00024177" "90" "289" "0" "289" "0" "c.289G>A" "r.(?)" "p.(Gly97Ser)" "3" "0000154031" "00024177" "90" "2231" "0" "2231" "0" "c.2231G>C" "r.(?)" "p.(Arg744Thr)" "17" "0000154032" "00024177" "90" "1633" "1" "1633" "1" "c.1633+1G>T" "r.1553_1663del" "p.Ser518_Gly555delinsCys" "12i" "0000154046" "00024177" "90" "0" "0" "0" "0" "c.-3614_-89+1_-88-1)del" "r.0?" "p.0?" "_1_1i" "0000170838" "00024177" "50" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Trp)" "7" "0000283923" "00024177" "10" "2314" "0" "2314" "0" "c.2314C>T" "r.(?)" "p.(Pro772Ser)" "" "0000283924" "00024177" "10" "345" "0" "345" "0" "c.345C>T" "r.(?)" "p.(Ser115=)" "" "0000283925" "00024177" "10" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Asp200=)" "" "0000287388" "00024177" "50" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Ala336Thr)" "" "0000287389" "00024177" "50" "1708" "0" "1708" "0" "c.1708C>T" "r.(?)" "p.(Arg570Trp)" "" "0000287390" "00024177" "50" "2272" "0" "2272" "0" "c.2272G>A" "r.(?)" "p.(Val758Met)" "" "0000287391" "00024177" "10" "746" "-3" "746" "-3" "c.746-3C>T" "r.spl?" "p.?" "" "0000287392" "00024177" "90" "755" "0" "755" "0" "c.755C>G" "r.(?)" "p.(Pro252Arg)" "" "0000287393" "00024177" "10" "936" "22" "936" "22" "c.936+22G>A" "r.(=)" "p.(=)" "" "0000332104" "00024177" "50" "2107" "0" "2107" "0" "c.2107G>A" "r.(?)" "p.(Gly703Ser)" "" "0000332105" "00024177" "50" "1652" "0" "1652" "0" "c.1652G>C" "r.(?)" "p.(Cys551Ser)" "" "0000332106" "00024177" "50" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Leu465Phe)" "" "0000332107" "00024177" "50" "386" "0" "386" "0" "c.386A>C" "r.(?)" "p.(Asp129Ala)" "" "0000337932" "00024177" "10" "2187" "-6" "2187" "-6" "c.2187-6C>T" "r.(=)" "p.(=)" "" "0000337933" "00024177" "90" "1855" "-1" "1855" "-1" "c.1855-1G>A" "r.spl?" "p.?" "" "0000337934" "00024177" "30" "1664" "-6" "1664" "-6" "c.1664-6C>G" "r.(=)" "p.(=)" "" "0000337935" "00024177" "70" "936" "3" "936" "3" "c.936+3A>T" "r.spl?" "p.?" "" "0000337936" "00024177" "10" "449" "-9" "449" "-9" "c.449-9C>G" "r.(=)" "p.(=)" "" "0000337937" "00024177" "10" "-89" "173" "-89" "173" "c.-89+173C>T" "r.(=)" "p.(=)" "" "0000337938" "00024177" "10" "-385" "0" "-385" "0" "c.-385G>A" "r.(?)" "p.(=)" "" "0000337939" "00024177" "10" "-636" "0" "-636" "0" "c.-636C>T" "r.(?)" "p.(=)" "" "0000337940" "00024177" "10" "-699" "0" "-699" "0" "c.-699C>T" "r.(?)" "p.(=)" "" "0000339188" "00024177" "70" "2467" "0" "2467" "0" "c.2467T>A" "r.(?)" "p.(Ter823ArgextTer105)" "" "0000339937" "00024177" "10" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Asp200=)" "" "0000341538" "00024177" "50" "1934" "0" "1934" "0" "c.1934C>T" "r.(?)" "p.(Ala645Val)" "" "0000342419" "00024177" "90" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Trp)" "" "0000343168" "00024177" "90" "1825" "0" "1825" "0" "c.1825C>T" "r.(?)" "p.(Arg609Ter)" "" "0000343250" "00024177" "70" "1936" "0" "1936" "0" "c.1936C>T" "r.(?)" "p.(Arg646Trp)" "" "0000343275" "00024177" "90" "1981" "0" "1981" "0" "c.1981C>T" "r.(?)" "p.(Arg661Ter)" "" "0000343365" "00024177" "90" "232" "0" "232" "0" "c.232C>T" "r.(?)" "p.(Arg78Cys)" "" "0000344163" "00024177" "90" "1939" "0" "1939" "0" "c.1939del" "r.(?)" "p.(Asp647ThrfsTer18)" "" "0000345215" "00024177" "90" "586" "0" "586" "0" "c.586G>T" "r.(?)" "p.(Glu196Ter)" "" "0000345900" "00024177" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Gly237Ser)" "" "0000346016" "00024177" "70" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Gly348Arg)" "" "0000346017" "00024177" "90" "1042" "0" "1042" "0" "c.1042G>C" "r.(?)" "p.(Gly348Arg)" "" "0000347100" "00024177" "50" "932" "0" "932" "0" "c.932T>C" "r.(?)" "p.(Leu311Ser)" "" "0000347266" "00024177" "70" "1840" "0" "1840" "0" "c.1840C>G" "r.(?)" "p.(Leu614Val)" "" "0000347523" "00024177" "90" "962" "0" "963" "0" "c.962_963del" "r.(?)" "p.(Lys321ArgfsTer13)" "" "0000347602" "00024177" "30" "1794" "0" "1794" "0" "c.1794G>C" "r.(?)" "p.(Lys598Asn)" "" "0000347840" "00024177" "30" "1368" "0" "1368" "0" "c.1368G>T" "r.(?)" "p.(Met456Ile)" "" "0000349840" "00024177" "90" "2051" "0" "2051" "0" "c.2051G>A" "r.(?)" "p.(Trp684Ter)" "" "0000350176" "00024177" "90" "2103" "0" "2103" "0" "c.2103C>A" "r.(?)" "p.(Tyr701Ter)" "" "0000351151" "00024177" "90" "1977" "1" "1977" "1" "c.1977+1G>A" "r.spl?" "p.?" "" "0000351153" "00024177" "90" "91" "1" "91" "1" "c.91+1G>A" "r.spl?" "p.?" "" "0000351154" "00024177" "30" "-358" "0" "-358" "0" "c.-358C>T" "r.(?)" "p.(=)" "" "0000395165" "00024177" "90" "1934" "0" "1934" "0" "c.1934C>T" "r.(?)" "p.(Ala645Val)" "14" "0000446116" "00024177" "90" "1934" "0" "1934" "0" "c.1934C>T" "r.(?)" "p.Ala645Val" "" "0000465653" "00024177" "70" "1966" "0" "1966" "0" "c.1966A>G" "r.(?)" "p.(Lys656Glu)" "" "0000465655" "00024177" "70" "1966" "0" "1968" "0" "c.1966_1968delinsGAC" "r.(?)" "p.(Lys656Asp)" "" "0000474984" "00024177" "50" "1424" "0" "1424" "0" "c.1424G>A" "r.(?)" "p.(Arg475Gln)" "" "0000534728" "00024177" "50" "2428" "0" "2428" "0" "c.2428C>T" "r.(?)" "p.(His810Tyr)" "" "0000534729" "00024177" "30" "2351" "0" "2351" "0" "c.2351G>A" "r.(?)" "p.(Arg784Gln)" "" "0000534730" "00024177" "10" "2314" "0" "2314" "0" "c.2314C>T" "r.(?)" "p.(Pro772Ser)" "" "0000534731" "00024177" "70" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Arg756His)" "" "0000534732" "00024177" "10" "2262" "0" "2262" "0" "c.2262G>A" "r.(?)" "p.(Leu754=)" "" "0000534733" "00024177" "70" "2189" "0" "2189" "0" "c.2189dup" "r.(?)" "p.(Tyr730Ter)" "" "0000534734" "00024177" "10" "2187" "-6" "2187" "-6" "c.2187-6C>T" "r.(=)" "p.(=)" "" "0000534735" "00024177" "30" "2187" "-6" "2187" "-6" "c.2187-6C>T" "r.(=)" "p.(=)" "" "0000534736" "00024177" "70" "1867" "0" "1867" "0" "c.1867G>T" "r.(?)" "p.(Asp623Tyr)" "" "0000534737" "00024177" "50" "1595" "0" "1595" "0" "c.1595T>C" "r.(?)" "p.(Met532Thr)" "" "0000534738" "00024177" "10" "1557" "0" "1557" "0" "c.1557C>T" "r.(?)" "p.(Asp519=)" "" "0000534739" "00024177" "30" "1431" "-5" "1431" "-5" "c.1431-5G>A" "r.spl?" "p.?" "" "0000534740" "00024177" "50" "1388" "0" "1388" "0" "c.1388A>G" "r.(?)" "p.(Tyr463Cys)" "" "0000534741" "00024177" "50" "1388" "0" "1388" "0" "c.1388A>G" "r.(?)" "p.(Tyr463Cys)" "" "0000534742" "00024177" "30" "1368" "0" "1368" "0" "c.1368G>T" "r.(?)" "p.(Met456Ile)" "" "0000534743" "00024177" "30" "1349" "0" "1349" "0" "c.1349C>T" "r.(?)" "p.(Ser450Phe)" "" "0000534744" "00024177" "70" "1057" "0" "1057" "0" "c.1057T>C" "r.(?)" "p.(Ser353Pro)" "" "0000534745" "00024177" "30" "899" "0" "899" "0" "c.899T>C" "r.(?)" "p.(Ile300Thr)" "" "0000534746" "00024177" "30" "899" "0" "899" "0" "c.899T>C" "r.(?)" "p.(Ile300Thr)" "" "0000534747" "00024177" "90" "792" "0" "792" "0" "c.792C>A" "r.(?)" "p.(Asn264Lys)" "" "0000534748" "00024177" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Trp)" "" "0000534749" "00024177" "90" "755" "0" "755" "0" "c.755C>G" "r.(?)" "p.(Pro252Arg)" "" "0000534751" "00024177" "10" "449" "-9" "449" "-9" "c.449-9C>G" "r.(=)" "p.(=)" "" "0000534752" "00024177" "30" "449" "-9" "449" "-9" "c.449-9C>G" "r.(=)" "p.(=)" "" "0000534753" "00024177" "10" "345" "0" "345" "0" "c.345C>T" "r.(?)" "p.(Ser115=)" "" "0000534755" "00024177" "10" "320" "0" "320" "0" "c.320C>T" "r.(?)" "p.(Ser107Leu)" "" "0000534756" "00024177" "30" "75" "0" "75" "0" "c.75G>A" "r.(?)" "p.(Pro25=)" "" "0000534757" "00024177" "30" "66" "0" "66" "0" "c.66G>C" "r.(?)" "p.(Arg22Ser)" "" "0000611610" "00024177" "50" "2399" "0" "2399" "0" "c.2399C>T" "r.(?)" "p.(Pro800Leu)" "" "0000611611" "00024177" "90" "1430" "1" "1430" "1" "c.1430+1G>A" "r.spl?" "p.?" "" "0000611612" "00024177" "90" "289" "0" "289" "0" "c.289G>A" "r.(?)" "p.(Gly97Ser)" "" "0000622062" "00024177" "30" "1430" "7" "1430" "9" "c.1430+7_1430+9del" "r.(=)" "p.(=)" "" "0000640806" "00024177" "77" "2464" "0" "2464" "0" "c.2464C>T" "r.(?)" "p.(Arg822Cys)" "18" "0000640807" "00024177" "99" "2399" "0" "2399" "0" "c.2399C>T" "r.(?)" "p.(Pro800Leu)" "18" "0000640808" "00024177" "99" "2383" "0" "2383" "0" "c.2383G>A" "r.(?)" "p.(Val795Ile)" "18" "0000640809" "00024177" "99" "2302" "0" "2302" "0" "c.2302G>C" "r.(?)" "p.(Asp768His)" "18" "0000640810" "00024177" "77" "2302" "0" "2302" "0" "c.2302G>T" "r.(?)" "p.(Asp768Tyr)" "18" "0000640811" "00024177" "99" "2292" "3" "2292" "3" "c.2292+3A>G" "r.spl?" "p.?" "17i" "0000640812" "00024177" "77" "2292" "0" "2292" "0" "c.2292G>C" "r.(?)" "p.(Gln764His)" "17" "0000640813" "00024177" "99" "2292" "0" "2292" "0" "c.2292G>T" "r.(?)" "p.(Gln764His)" "17" "0000640814" "00024177" "99" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Arg756His)" "17" "0000640815" "00024177" "99" "2241" "0" "2241" "0" "c.2241C>A" "r.(?)" "p.(Phe747Leu)" "17" "0000640816" "00024177" "99" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(Pro745Ser)" "17" "0000640817" "00024177" "77" "2209" "0" "2209" "0" "c.2209T>C" "r.(?)" "p.(Trp737Arg)" "17" "0000640818" "00024177" "99" "2203" "0" "2203" "0" "c.2203del" "r.(?)" "p.(Asp735Thrfs*26)" "17" "0000640819" "00024177" "99" "2190" "0" "2190" "0" "c.2190C>G" "r.(?)" "p.(Tyr730*)" "17" "0000640820" "00024177" "99" "2187" "-5" "2187" "-5" "c.2187-5C>A" "r.spl?" "p.?" "16i" "0000640821" "00024177" "99" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Cys725Tyr)" "16" "0000640822" "00024177" "55" "2172" "0" "2172" "0" "c.2172C>G" "r.(?)" "p.(Asn724Lys)" "16" "0000640823" "00024177" "99" "2165" "0" "2172" "0" "c.2165_2172delinsACAGTAAG" "r.(?)" "p.(Pro722_Asn724delinsHisSerLys)" "16" "0000640824" "00024177" "99" "2164" "0" "2164" "0" "c.2164C>T" "r.(?)" "p.(Pro722Ser)" "16" "0000640825" "00024177" "99" "2156" "0" "2156" "0" "c.2156T>G" "r.(?)" "p.(Met719Arg)" "16" "0000640826" "00024177" "77" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718Cys)" "16" "0000640827" "00024177" "77" "2146" "0" "2146" "0" "c.2146G>T" "r.(?)" "p.(Gly716Cys)" "16" "0000640828" "00024177" "99" "2107" "0" "2107" "0" "c.2107G>C" "r.(?)" "p.(Gly703Arg)" "16" "0000640829" "00024177" "99" "2107" "0" "2107" "0" "c.2107G>A" "r.(?)" "p.(Gly703Ser)" "16" "0000640830" "00024177" "99" "2099" "0" "2099" "0" "c.2099C>T" "r.(?)" "p.(Pro700Leu)" "16" "0000640831" "00024177" "99" "2084" "0" "2084" "0" "c.2084C>T" "r.(?)" "p.(Thr695Ile)" "16" "0000640832" "00024177" "99" "2077" "0" "2077" "0" "c.2077A>T" "r.(?)" "p.(Ile693Phe)" "16" "0000640833" "00024177" "99" "2075" "0" "2075" "0" "c.2075A>G" "r.(?)" "p.(Glu692Gly)" "16" "0000640834" "00024177" "99" "2074" "0" "2074" "0" "c.2074G>A" "r.(?)" "p.(Glu692Lys)" "16" "0000640835" "00024177" "99" "2059" "0" "2059" "0" "c.2059G>A" "r.(?)" "p.(Gly687Arg)" "16" "0000640836" "00024177" "99" "2054" "0" "2054" "0" "c.2054C>T" "r.(?)" "p.(Ser685Phe)" "16" "0000640837" "00024177" "99" "2049" "-1" "2049" "-1" "c.2049-1G>C" "r.spl?" "p.?" "15i" "0000640838" "00024177" "77" "2049" "-1" "2049" "-1" "c.2049-1G>A" "r.spl?" "p.?" "15i" "0000640839" "00024177" "99" "2048" "1" "2048" "1" "c.2048+1G>A" "r.spl?" "p.?" "15i" "0000640840" "00024177" "99" "2038" "0" "2038" "0" "c.2038C>T" "r.(?)" "p.(Gln680*)" "15" "0000640841" "00024177" "99" "2011" "0" "2011" "0" "c.2011G>C" "r.(?)" "p.(Ala671Pro)" "15" "0000640842" "00024177" "77" "2009" "0" "2009" "0" "c.2009A>C" "r.(?)" "p.(Glu670Ala)" "15" "0000640843" "00024177" "77" "2008" "0" "2008" "0" "c.2008G>A" "r.(?)" "p.(Glu670Lys)" "15" "0000640844" "00024177" "99" "1996" "0" "1996" "0" "c.1996T>A" "r.(?)" "p.(Trp666Arg)" "15" "0000640845" "00024177" "99" "1987" "0" "1987" "0" "c.1987C>T" "r.(?)" "p.(Pro663Ser)" "15" "0000640846" "00024177" "99" "1981" "0" "1981" "0" "c.1981C>T" "r.(?)" "p.(Arg661*)" "15" "0000640847" "00024177" "99" "1977" "1" "1977" "1" "c.1977+1G>A" "r.spl?" "p.?" "14i" "0000640848" "00024177" "99" "1970" "0" "1971" "0" "c.1970_1971del" "r.(?)" "p.(Thr657Asnfs*17)" "14" "0000640849" "00024177" "99" "1936" "0" "1936" "0" "c.1936C>T" "r.(?)" "p.(Arg646Trp)" "14" "0000640850" "00024177" "99" "1916" "0" "1916" "0" "c.1916T>C" "r.(?)" "p.(Ile639Thr)" "14" "0000640851" "00024177" "99" "1907" "0" "1908" "0" "c.1907_1908del" "r.(?)" "p.(Val636Aspfs*19)" "14" "0000640852" "00024177" "99" "1889" "0" "1889" "0" "c.1889T>C" "r.(?)" "p.(Leu630Pro)" "14" "0000640853" "00024177" "99" "1884" "0" "1884" "0" "c.1884T>G" "r.(?)" "p.(Asn628Lys)" "14" "0000640854" "00024177" "99" "1880" "0" "1880" "0" "c.1880G>C" "r.(?)" "p.(Arg627Thr)" "14" "0000640855" "00024177" "99" "1867" "0" "1867" "0" "c.1867G>T" "r.(?)" "p.(Asp623Tyr)" "14" "0000640856" "00024177" "99" "1865" "0" "1865" "0" "c.1865G>A" "r.(?)" "p.(Arg622Gln)" "14" "0000640857" "00024177" "99" "1864" "0" "1864" "0" "c.1864C>T" "r.(?)" "p.(Arg622*)" "14" "0000640858" "00024177" "99" "1864" "0" "1864" "0" "c.1864C>G" "r.(?)" "p.(Arg622Gly)" "14" "0000640859" "00024177" "99" "1862" "0" "1862" "0" "c.1862A>G" "r.(?)" "p.(His621Arg)" "14" "0000640860" "00024177" "99" "1854" "0" "1854" "0" "c.1854G>T" "r.(?)" "p.(Lys618Asn)" "13" "0000640861" "00024177" "99" "1852" "0" "1853" "0" "c.1852_1853del" "r.(?)" "p.(Lys618Valfs*37)" "13" "0000640862" "00024177" "99" "1837" "0" "1837" "0" "c.1837dup" "r.(?)" "p.(Tyr613Leufs*43)" "13" "0000640863" "00024177" "77" "1835" "0" "1835" "0" "c.1835A>G" "r.(?)" "p.(Glu612Gly)" "13" "0000640864" "00024177" "99" "1825" "0" "1825" "0" "c.1825C>T" "r.(?)" "p.(Arg609*)" "13" "0000640865" "00024177" "99" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Val607Met)" "13" "0000640866" "00024177" "77" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Ala604Thr)" "13" "0000640867" "00024177" "99" "1755" "0" "1755" "0" "c.1755C>A" "r.(?)" "p.(Tyr585*)" "13" "0000640868" "00024177" "99" "1708" "0" "1708" "0" "c.1708C>T" "r.(?)" "p.(Arg570Trp)" "13" "0000640869" "00024177" "99" "1664" "-2" "1664" "-2" "c.1664-2A>G" "r.spl?" "p.?" "12i" "0000640870" "00024177" "99" "1614" "0" "1614" "0" "c.1614C>T" "r.(=)" "p.(=)" "12" "0000640871" "00024177" "99" "1612" "0" "1612" "0" "c.1612A>G" "r.(?)" "p.(Ile538Val)" "12" "0000640872" "00024177" "99" "1558" "0" "1558" "0" "c.1558G>A" "r.(?)" "p.(Ala520Thr)" "12" "0000640873" "00024177" "99" "1553" "-2" "1553" "-2" "c.1553-2A>G" "r.spl?" "p.?" "11i" "0000640874" "00024177" "99" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Ala512Val)" "11" "0000640875" "00024177" "77" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Val492Met)" "11" "0000640876" "00024177" "99" "1468" "0" "1468" "0" "c.1468G>C" "r.(?)" "p.(Gly490Arg)" "11" "0000640877" "00024177" "99" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Gly487Asp)" "11" "0000640878" "00024177" "99" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Pro483Ser)" "11" "0000640879" "00024177" "77" "1447" "0" "1447" "0" "c.1447C>A" "r.(?)" "p.(Pro483Thr)" "11" "0000640880" "00024177" "99" "1424" "0" "1424" "0" "c.1424G>A" "r.(?)" "p.(Arg475Gln)" "10" "0000640881" "00024177" "99" "1409" "0" "1409" "0" "c.1409G>T" "r.(?)" "p.(Arg470Leu)" "10" "0000640882" "00024177" "99" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Glu467Lys)" "10" "0000640883" "00024177" "99" "1383" "0" "1384" "0" "c.1383_1384insTT" "r.(?)" "p.(Glu462Leufs*20)" "10" "0000640884" "00024177" "99" "1377" "0" "1378" "0" "c.1377_1378insA" "r.(?)" "p.(Val460Serfs*3)" "10" "0000640885" "00024177" "99" "1368" "0" "1368" "0" "c.1368G>T" "r.(?)" "p.(Met456Ile)" "10" "0000640886" "00024177" "99" "1349" "0" "1349" "0" "c.1349C>T" "r.(?)" "p.(Ser450Phe)" "10" "0000640887" "00024177" "99" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Trp)" "10" "0000640888" "00024177" "99" "1317" "0" "1318" "0" "c.1317_1318del" "r.(?)" "p.(Val441Serfs*21)" "10" "0000640889" "00024177" "99" "1305" "0" "1306" "0" "c.1305_1306dup" "r.(?)" "p.(Ser436Tyrfs*3)" "10" "0000640890" "00024177" "99" "1286" "0" "1286" "0" "c.1286T>A" "r.(?)" "p.(Val429Glu)" "10" "0000640891" "00024177" "99" "1285" "-2" "1285" "-2" "c.1285-2A>G" "r.spl?" "p.?" "9i" "0000640892" "00024177" "77" "1279" "0" "1279" "0" "c.1279G>T" "r.(?)" "p.(Val427Leu)" "9" "0000640893" "00024177" "77" "1151" "0" "1151" "0" "c.1151C>A" "r.(?)" "p.(Ala384Asp)" "9" "0000640894" "00024177" "99" "1141" "0" "1141" "0" "c.1141T>C" "r.(?)" "p.(Cys381Arg)" "9" "0000640895" "00024177" "99" "1121" "0" "1121" "0" "c.1121A>G" "r.(?)" "p.(Tyr374Cys)" "9" "0000640896" "00024177" "99" "1107" "0" "1107" "0" "c.1107G>A" "r.(?)" "p.(Met369Ile)" "9" "0000640897" "00024177" "99" "1097" "0" "1097" "0" "c.1097C>T" "r.(?)" "p.(Pro366Leu)" "9" "0000640898" "00024177" "99" "1093" "0" "1094" "0" "c.1093_1094del" "r.(?)" "p.(Arg365Alafs*42)" "9" "0000640899" "00024177" "99" "1093" "0" "1094" "0" "c.1093_1094dup" "r.(?)" "p.(Pro366Glyfs*4)" "9" "0000640900" "00024177" "99" "1081" "0" "1081" "0" "c.1081G>C" "r.(?)" "p.(Ala361Pro)" "8" "0000640901" "00024177" "77" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Thr357Ile)" "8" "0000640902" "00024177" "77" "1063" "0" "1063" "0" "c.1063T>C" "r.(?)" "p.(Trp355Arg)" "8" "0000640903" "00024177" "99" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Gly348Arg)" "8" "0000640904" "00024177" "99" "1038" "0" "1039" "0" "c.1038_1039insTT" "r.(?)" "p.(Ile347Leufs*11)" "8" "0000640905" "00024177" "99" "1038" "0" "1038" "0" "c.1038dup" "r.(?)" "p.(Ile347Tyrfs*61)" "8" "0000640906" "00024177" "99" "1037" "0" "1037" "0" "c.1037C>G" "r.(?)" "p.(Ser346Cys)" "8" "0000640907" "00024177" "99" "1037" "0" "1038" "0" "c.1037_1038del" "r.(?)" "p.(Ser346Tyrfs*61)" "8" "0000640908" "00024177" "99" "1028" "0" "1028" "0" "c.1028C>T" "r.(?)" "p.(Ala343Val)" "8" "0000640909" "00024177" "99" "1025" "0" "1025" "0" "c.1025T>C" "r.(?)" "p.(Leu342Ser)" "8" "0000640910" "00024177" "99" "1023" "0" "1023" "0" "c.1023C>G" "r.(?)" "p.(Cys341Trp)" "8" "0000640911" "00024177" "77" "1019" "0" "1019" "0" "c.1019C>T" "r.(?)" "p.(Thr340Met)" "8" "0000640912" "00024177" "99" "1018" "0" "1018" "0" "c.1018A>G" "r.(?)" "p.(Thr340Ala)" "8" "0000640913" "00024177" "99" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(Tyr339Cys)" "8" "0000640914" "00024177" "99" "1004" "0" "1004" "0" "c.1004A>T" "r.(?)" "p.(Asp335Val)" "8" "0000640915" "00024177" "99" "995" "0" "995" "0" "c.995C>G" "r.(?)" "p.(Ser332Cys)" "8" "0000640916" "00024177" "99" "989" "0" "989" "0" "c.989A>T" "r.(?)" "p.(Asn330Ile)" "8" "0000640917" "00024177" "77" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Asn330Ser)" "8" "0000640918" "00024177" "99" "970" "0" "970" "0" "c.970G>T" "r.(?)" "p.(Glu324*)" "8" "0000640919" "00024177" "99" "962" "0" "965" "0" "c.962_965del" "r.(?)" "p.(Lys321Argfs*7)" "8" "0000640920" "00024177" "99" "962" "0" "963" "0" "c.962_963del" "r.(?)" "p.(Lys321Argfs*13)" "8" "0000640921" "00024177" "99" "936" "0" "936" "0" "c.936G>A" "r.(=)" "p.(=)" "7" "0000640922" "00024177" "99" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Gln309*)" "7" "0000640923" "00024177" "99" "899" "0" "899" "0" "c.899T>C" "r.(?)" "p.(Ile300Thr)" "7" "0000640924" "00024177" "99" "891" "0" "891" "0" "c.891del" "r.(?)" "p.(Ser298Alafs*14)" "7" "0000640925" "00024177" "99" "887" "0" "887" "0" "c.887A>T" "r.(?)" "p.(Asn296Ile)" "7" "0000640926" "00024177" "99" "858" "0" "866" "0" "c.858_866del" "r.(?)" "p.(His286_Trp289delinsGln)" "7" "0000640927" "00024177" "99" "854" "0" "854" "0" "c.854C>G" "r.(?)" "p.(Pro285Arg)" "7" "0000640928" "00024177" "99" "848" "0" "848" "0" "c.848C>G" "r.(?)" "p.(Pro283Arg)" "7" "0000640929" "00024177" "99" "841" "0" "846" "0" "c.841_846del" "r.(?)" "p.(Ser281_Asp282del)" "7" "0000640930" "00024177" "77" "841" "0" "841" "0" "c.841A>G" "r.(?)" "p.(Ser281Gly)" "7" "0000640931" "00024177" "77" "837" "0" "838" "0" "c.837_838del" "r.(?)" "p.(Tyr280Glnfs*2)" "7" "0000640932" "00024177" "99" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Cys277Tyr)" "7" "0000640933" "00024177" "99" "821" "0" "821" "0" "c.821A>G" "r.(?)" "p.(Glu274Gly)" "7" "0000640934" "00024177" "99" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Val273Met)" "7" "0000640935" "00024177" "99" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Gly270Asp)" "7" "0000640936" "00024177" "99" "790" "0" "790" "0" "c.790A>C" "r.(?)" "p.(Asn264His)" "7" "0000640937" "00024177" "99" "779" "0" "779" "0" "c.779G>A" "r.(?)" "p.(Gly260Glu)" "7" "0000640938" "00024177" "99" "761" "0" "761" "0" "c.761G>A" "r.(?)" "p.(Arg254Gln)" "7" "0000640939" "00024177" "77" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Trp)" "7" "0000640940" "00024177" "99" "755" "0" "755" "0" "c.755C>G" "r.(?)" "p.(Pro252Arg)" "7" "0000640941" "00024177" "99" "752" "0" "752" "0" "c.752C>T" "r.(?)" "p.(Ser251Phe)" "7" "0000640942" "00024177" "99" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250Gln)" "7" "0000640943" "00024177" "99" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Trp)" "7" "0000640944" "00024177" "99" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Leu245Pro)" "6" "0000640945" "00024177" "99" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Ile239Thr)" "6" "0000640946" "00024177" "99" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Gly237Asp)" "6" "0000640947" "00024177" "99" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Gly237Ser)" "6" "0000640948" "00024177" "99" "682" "0" "682" "0" "c.682T>G" "r.(?)" "p.(Tyr228Asp)" "6" "0000640949" "00024177" "99" "672" "0" "672" "0" "c.672C>G" "r.(?)" "p.(Asp224Glu)" "6" "0000640950" "00024177" "99" "670" "0" "670" "0" "c.670G>C" "r.(?)" "p.(Asp224His)" "6" "0000640951" "00024177" "99" "650" "0" "650" "0" "c.650T>C" "r.(?)" "p.(Met217Thr)" "6" "0000640952" "00024177" "77" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "6" "0000640953" "00024177" "77" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "6" "0000640954" "00024177" "77" "591" "0" "591" "0" "c.591C>A" "r.(?)" "p.(Phe197Leu)" "5" "0000640955" "00024177" "99" "572" "0" "572" "0" "c.572T>C" "r.(?)" "p.(Leu191Ser)" "5" "0000640956" "00024177" "99" "570" "0" "570" "0" "c.570G>A" "r.(?)" "p.(Trp190*)" "5" "0000640957" "00024177" "99" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "5" "0000640958" "00024177" "99" "533" "0" "533" "0" "c.533G>C" "r.(?)" "p.(Cys178Ser)" "5" "0000640959" "00024177" "99" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Val174Ala)" "5" "0000640960" "00024177" "99" "506" "0" "506" "0" "c.506C>T" "r.(?)" "p.(Pro169Leu)" "5" "0000640961" "00024177" "99" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Ala167Ser)" "5" "0000640962" "00024177" "99" "494" "0" "494" "0" "c.494T>C" "r.(?)" "p.(Leu165Ser)" "5" "0000640963" "00024177" "99" "482" "0" "482" "0" "c.482T>C" "r.(?)" "p.(Met161Thr)" "5" "0000640964" "00024177" "99" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Arg148His)" "4" "0000640965" "00024177" "99" "424" "0" "427" "0" "c.424_427del" "r.(?)" "p.(Asp142Thrfs*9)" "4" "0000640966" "00024177" "77" "422" "0" "422" "0" "c.422C>G" "r.(?)" "p.(Thr141Arg)" "4" "0000640967" "00024177" "99" "418" "0" "418" "0" "c.418G>T" "r.(?)" "p.(Glu140*)" "4" "0000640968" "00024177" "99" "416" "0" "416" "0" "c.416A>G" "r.(?)" "p.(Lys139Arg)" "4" "0000640969" "00024177" "99" "412" "0" "412" "0" "c.412G>T" "r.(?)" "p.(Glu138*)" "4" "0000640970" "00024177" "99" "407" "0" "407" "0" "c.407C>A" "r.(?)" "p.(Ser136*)" "4" "0000640971" "00024177" "99" "386" "0" "386" "0" "c.386A>C" "r.(?)" "p.(Asp129Ala)" "4" "0000640972" "00024177" "99" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Asn117Ser)" "3" "0000640973" "00024177" "77" "347" "0" "347" "0" "c.347T>G" "r.(?)" "p.(Val116Gly)" "3" "0000640974" "00024177" "99" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Val116Ile)" "3" "0000640975" "00024177" "99" "327" "0" "327" "0" "c.327del" "r.(?)" "p.(Ser109Argfs*43)" "3" "0000640976" "00024177" "99" "326" "0" "326" "0" "c.326dup" "r.(?)" "p.(Ser109Argfs*2)" "3" "0000640977" "00024177" "99" "320" "0" "320" "0" "c.320C>A" "r.(?)" "p.(Ser107*)" "3" "0000640978" "00024177" "99" "319" "0" "319" "0" "c.319T>A" "r.(?)" "p.(Ser107Thr)" "3" "0000640979" "00024177" "99" "303" "0" "303" "0" "c.303C>A" "r.(?)" "p.(Cys101*)" "3" "0000640980" "00024177" "99" "303" "0" "304" "0" "c.303_304insCC" "r.(?)" "p.(Val102Profs*2)" "3" "0000640981" "00024177" "99" "302" "0" "302" "0" "c.302G>T" "r.(?)" "p.(Cys101Phe)" "3" "0000640982" "00024177" "77" "301" "0" "301" "0" "c.301T>G" "r.(?)" "p.(Cys101Gly)" "3" "0000640983" "00024177" "99" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(Tyr99Cys)" "3" "0000640984" "00024177" "99" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Gly97Asp)" "3" "0000640985" "00024177" "77" "289" "0" "289" "0" "c.289G>A" "r.(?)" "p.(Gly97Ser)" "3" "0000640986" "00024177" "99" "286" "0" "286" "0" "c.286T>C" "r.(?)" "p.(Ser96Pro)" "3" "0000640987" "00024177" "99" "246" "0" "247" "0" "c.246_247del" "r.(?)" "p.(Glu84Glyfs*26)" "3" "0000640988" "00024177" "99" "232" "0" "232" "0" "c.232C>T" "r.(?)" "p.(Arg78Cys)" "3" "0000640989" "00024177" "77" "231" "0" "231" "0" "c.231C>G" "r.(?)" "p.(Asn77Lys)" "3" "0000640990" "00024177" "77" "203" "0" "217" "0" "c.203_217dup" "r.(?)" "p.(Arg68_Gln72dup)" "3" "0000640991" "00024177" "99" "208" "0" "208" "0" "c.208G>C" "r.(?)" "p.(Gly70Arg)" "3" "0000640992" "00024177" "99" "165" "0" "171" "0" "c.165_171del" "r.(?)" "p.(Arg56Glyfs*45)" "3" "0000640993" "00024177" "99" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Gly48Ser)" "3" "0000640994" "00024177" "99" "91" "2" "91" "2" "c.91+2T>A" "r.spl?" "p.?" "2i" "0000640995" "00024177" "77" "47" "0" "47" "0" "c.47C>G" "r.(?)" "p.(Ala16Gly)" "2" "0000640996" "00024177" "99" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Trp10Glyfs*93)" "2" "0000640997" "00024177" "99" "12" "0" "12" "0" "c.12G>A" "r.(?)" "p.(Trp4*)" "2" "0000640998" "00024177" "99" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Trp4*)" "2" "0000640999" "00024177" "77" "-1" "0" "-1" "0" "c.-1G>A" "r.(=)" "p.(=)" "2" "0000652487" "00024177" "30" "2187" "-6" "2187" "-6" "c.2187-6C>T" "r.(=)" "p.(=)" "" "0000652488" "00024177" "30" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Val248Met)" "" "0000656085" "00024177" "10" "1855" "-8" "1855" "-8" "c.1855-8T>C" "r.(=)" "p.(=)" "" "0000656086" "00024177" "90" "1720" "0" "1720" "0" "c.1720C>T" "r.(?)" "p.(Gln574Ter)" "" "0000656087" "00024177" "90" "1670" "0" "1670" "0" "c.1670T>A" "r.(?)" "p.(Leu557Ter)" "" "0000656088" "00024177" "10" "1081" "20" "1081" "20" "c.1081+20C>T" "r.(=)" "p.(=)" "" "0000656089" "00024177" "10" "1011" "0" "1011" "0" "c.1011G>A" "r.(?)" "p.(Gly337=)" "" "0000656090" "00024177" "70" "683" "0" "683" "0" "c.683A>G" "r.(?)" "p.(Tyr228Cys)" "" "0000656091" "00024177" "30" "396" "0" "398" "0" "c.396_398del" "r.(?)" "p.(Asp133del)" "" "0000666234" "00024177" "90" "2059" "0" "2059" "0" "c.2059G>A" "r.(2059g>a)" "p.(Gly687Arg)" "" "0000666235" "00024177" "90" "1823" "0" "1823" "0" "c.1823C>A" "r.(1823c>a)" "p.(Ala608Asp)" "" "0000666236" "00024177" "90" "1430" "1" "1430" "1" "c.1430+1G>T" "r.spl" "p.?" "" "0000666237" "00024177" "90" "1043" "0" "1043" "0" "c.1043G>A" "r.1043g>a" "p.Gly348Glu" "" "0000666238" "00024177" "90" "887" "0" "887" "0" "c.887A>G" "r.887a>g" "p.Asn296Ser" "" "0000666239" "00024177" "90" "677" "0" "677" "0" "c.677G>A" "r.677g>a" "p.Gly226Asp" "" "0000666240" "00024177" "90" "625" "0" "625" "0" "c.625C>T" "r.625c>u" "p.Arg209Cys" "" "0000666241" "00024177" "90" "289" "0" "289" "0" "c.289G>C" "r.(289g>c)" "p.(Gly97Arg)" "" "0000666242" "00024177" "90" "211" "0" "211" "0" "c.211G>A" "r.(211g>a)" "p.(Val71Met)" "" "0000666243" "00024177" "90" "208" "0" "208" "0" "c.208G>A" "r.(208g>a)" "p.(Gly70Arg)" "" "0000678384" "00024177" "90" "2210" "0" "2210" "0" "c.2210G>A" "r.(?)" "p.(Trp737Ter)" "" "0000678385" "00024177" "10" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Asp200=)" "" "0000678386" "00024177" "90" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(Tyr99Cys)" "" "0000690258" "00024177" "50" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Glu467Lys)" "" "0000690259" "00024177" "30" "396" "0" "398" "0" "c.396_398dup" "r.(?)" "p.(Asp133dup)" "" "0000690260" "00024177" "10" "92" "-10346" "92" "-10346" "c.92-10346G>A" "r.(=)" "p.(=)" "" "0000690261" "00024177" "50" "-88" "-3566" "-88" "-3566" "c.-88-3566dup" "r.(=)" "p.(=)" "" "0000699922" "00024177" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Arg91Trp)" "" "0000703895" "00024177" "70" "2360" "0" "2360" "0" "c.2360C>T" "r.(?)" "p.(Thr787Met)" "" "0000708484" "00024177" "90" "479" "0" "479" "0" "c.479del" "r.(?)" "p.(Lys160Argfs*15)" "" "0000721971" "00024177" "50" "1409" "0" "1409" "0" "c.1409G>A" "r.(?)" "p.(Arg470His)" "" "0000721972" "00024177" "30" "1368" "0" "1368" "0" "c.1368G>T" "r.(?)" "p.(Met456Ile)" "" "0000721973" "00024177" "70" "769" "0" "769" "0" "c.769C>G" "r.(?)" "p.(Leu257Val)" "" "0000721974" "00024177" "70" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Gly226Asp)" "" "0000721975" "00024177" "90" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Gly226Asp)" "" "0000721976" "00024177" "50" "445" "0" "445" "0" "c.445A>G" "r.(?)" "p.(Met149Val)" "" "0000721977" "00024177" "30" "320" "0" "320" "0" "c.320C>T" "r.(?)" "p.(Ser107Leu)" "" "0000794216" "00024177" "70" "1309" "0" "1309" "0" "c.1309A>G" "r.(?)" "p.(Met437Val)" "" "0000803629" "00024177" "30" "2428" "0" "2428" "0" "c.2428C>T" "r.(?)" "p.(His810Tyr)" "" "0000803630" "00024177" "50" "2036" "0" "2036" "0" "c.2036A>G" "r.(?)" "p.(His679Arg)" "" "0000803632" "00024177" "10" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Cys101=)" "" "0000803633" "00024177" "10" "177" "0" "177" "0" "c.177C>T" "r.(?)" "p.(Asp59=)" "" "0000803634" "00024177" "30" "92" "-10361" "92" "-10361" "c.92-10361G>A" "r.(=)" "p.(=)" "" "0000803635" "00024177" "30" "-33" "0" "-33" "0" "c.-33G>A" "r.(?)" "p.(=)" "" "0000843648" "00024177" "90" "962" "0" "963" "0" "c.962_963del" "r.(?)" "p.(Lys321ArgfsTer13)" "" "0000851913" "00024177" "70" "2209" "0" "2209" "0" "c.2209T>G" "r.(?)" "p.(Trp737Gly)" "" "0000851914" "00024177" "90" "1916" "0" "1916" "0" "c.1916T>C" "r.(?)" "p.(Ile639Thr)" "" "0000851915" "00024177" "90" "1141" "0" "1141" "0" "c.1141T>C" "r.(?)" "p.(Cys381Arg)" "" "0000851916" "00024177" "10" "621" "12" "621" "13" "c.621+12_621+13dup" "r.(=)" "p.(=)" "" "0000851917" "00024177" "50" "386" "0" "386" "0" "c.386A>C" "r.(?)" "p.(Asp129Ala)" "" "0000851918" "00024177" "10" "75" "0" "75" "0" "c.75G>A" "r.(?)" "p.(Pro25=)" "" "0000861205" "00024177" "50" "2390" "0" "2390" "0" "c.2390C>T" "r.(?)" "p.(Ser797Phe)" "" "0000861206" "00024177" "30" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Val116Ile)" "" "0000888333" "00024177" "50" "2370" "0" "2371" "0" "c.2370_2371del" "r.(?)" "p.(Glu792Glyfs*7)" "" "0000888334" "00024177" "30" "2292" "3" "2292" "3" "c.2292+3A>G" "r.spl?" "p.?" "" "0000888335" "00024177" "50" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Arg756His)" "" "0000888336" "00024177" "10" "2187" "-5" "2187" "-5" "c.2187-5C>T" "r.spl?" "p.?" "" "0000888337" "00024177" "30" "2187" "-5" "2187" "-5" "c.2187-5C>T" "r.spl?" "p.?" "" "0000888338" "00024177" "10" "1855" "-16" "1855" "-16" "c.1855-16C>T" "r.(=)" "p.(=)" "" "0000888339" "00024177" "30" "1368" "0" "1368" "0" "c.1368G>T" "r.(?)" "p.(Met456Ile)" "" "0000888340" "00024177" "30" "1368" "0" "1368" "0" "c.1368G>T" "r.(?)" "p.(Met456Ile)" "" "0000888341" "00024177" "30" "1008" "0" "1008" "0" "c.1008A>G" "r.(?)" "p.(Ala336=)" "" "0000888342" "00024177" "50" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Met)" "" "0000888343" "00024177" "70" "449" "-6" "449" "-6" "c.449-6G>A" "r.(=)" "p.(=)" "" "0000888344" "00024177" "50" "359" "-2" "359" "-2" "c.359-2A>G" "r.spl?" "p.?" "" "0000912951" "00024177" "50" "2272" "0" "2272" "0" "c.2272G>A" "r.(?)" "p.(Val758Met)" "" "0000912952" "00024177" "30" "1368" "0" "1368" "0" "c.1368G>T" "r.(?)" "p.(Met456Ile)" "" "0000924870" "00024177" "50" "677" "0" "677" "0" "c.677G>T" "r.(?)" "p.(Gly226Val)" "" "0000929444" "00024177" "10" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(=)" "" "0000929445" "00024177" "50" "212" "0" "212" "0" "c.212T>G" "r.(?)" "p.(Val71Gly)" "" "0000946834" "00024177" "70" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Gly35Arg)" "" "0000946835" "00024177" "70" "1865" "0" "1865" "0" "c.1865G>A" "r.(?)" "p.(Arg622Gln)" "" "0000949073" "00024177" "90" "1974" "0" "1977" "0" "c.1974_1977del" "r.(?)" "p.(Asn659Alafs*5)" "" "0000949074" "00024177" "50" "1709" "0" "1709" "0" "c.1709G>A" "r.(?)" "p.(Arg570Gln)" "" "0000949075" "00024177" "50" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Arg148His)" "" "0000964987" "00024177" "30" "2361" "0" "2361" "0" "c.2361G>A" "r.(?)" "p.(=)" "" "0000964988" "00024177" "70" "2164" "0" "2164" "0" "c.2164C>G" "r.(?)" "p.(Pro722Ala)" "" "0000978194" "00024177" "30" "2464" "0" "2464" "0" "c.2464C>T" "r.(?)" "p.(Arg822Cys)" "" "0000978195" "00024177" "30" "2272" "0" "2272" "0" "c.2272G>A" "r.(?)" "p.(Val758Met)" "" "0000978196" "00024177" "50" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "" "0000978197" "00024177" "50" "160" "0" "160" "0" "c.160C>T" "r.(?)" "p.(Arg54Cys)" "" "0000997150" "00024177" "30" "2344" "0" "2344" "0" "c.2344G>A" "r.(?)" "p.(Asp782Asn)" "" "0000997151" "00024177" "30" "2292" "3" "2292" "3" "c.2292+3A>G" "r.spl?" "p.?" "" "0000997152" "00024177" "50" "2187" "-4" "2187" "-4" "c.2187-4G>T" "r.spl?" "p.?" "" "0000997153" "00024177" "70" "2099" "0" "2099" "0" "c.2099C>T" "r.(?)" "p.(Pro700Leu)" "" "0000997154" "00024177" "50" "1865" "0" "1865" "0" "c.1865G>T" "r.(?)" "p.(Arg622Leu)" "" "0000997155" "00024177" "50" "1615" "0" "1615" "0" "c.1615G>C" "r.(?)" "p.(Gly539Arg)" "" "0000997156" "00024177" "50" "1554" "0" "1554" "0" "c.1554G>A" "r.(?)" "p.(=)" "" "0000997157" "00024177" "30" "1409" "0" "1409" "0" "c.1409G>A" "r.(?)" "p.(Arg470His)" "" "0000997158" "00024177" "30" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Val391Met)" "" "0000997159" "00024177" "30" "646" "0" "646" "0" "c.646A>G" "r.(?)" "p.(Ile216Val)" "" "0000997160" "00024177" "50" "390" "0" "398" "0" "c.390_398dup" "r.(?)" "p.(Asp131_Asp133dup)" "" "0000997161" "00024177" "30" "66" "0" "66" "0" "c.66G>C" "r.(?)" "p.(Arg22Ser)" "" "0000997162" "00024177" "50" "-88" "-3729" "-88" "-3729" "c.-88-3729T>G" "r.(=)" "p.(=)" "" "0001014444" "00024177" "70" "1930" "0" "1930" "0" "c.1930C>G" "r.(?)" "p.(Leu644Val)" "" "0001017846" "00024177" "90" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(Tyr99Cys)" "3" "0001025518" "00024177" "90" "755" "0" "755" "0" "c.755C>G" "r.(?)" "p.(Pro252Arg)" "" "0001029902" "00024177" "50" "1708" "0" "1708" "0" "c.1708C>T" "r.(?)" "p.(Arg570Trp)" "" "0001030325" "00024177" "50" "-2" "0" "-2" "0" "c.-2G>T" "r.(?)" "p.(?)" "" "0001036952" "00024177" "30" "621" "5" "621" "5" "c.621+5G>A" "r.spl?" "p.?" "" "0001036953" "00024177" "30" "449" "-9" "449" "-9" "c.449-9C>G" "r.(=)" "p.(=)" "" "0001036954" "00024177" "50" "94" "0" "94" "0" "c.94C>G" "r.(?)" "p.(Gln32Glu)" "" "0001036955" "00024177" "30" "47" "0" "47" "0" "c.47C>T" "r.(?)" "p.(Ala16Val)" "" "0001046162" "00024177" "50" "678" "0" "678" "0" "c.678C>T" "r.(?)" "p.(=)" "" "0001048001" "00024177" "70" "287" "0" "287" "0" "c.287C>G" "r.(?)" "p.(Ser96Cys)" "" "0001048018" "00024177" "50" "1343" "0" "1343" "0" "c.1343G>A" "r.(?)" "p.(Arg448Gln)" "" "0001048202" "00024177" "50" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Cys6Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 220 "{{screeningid}}" "{{variantid}}" "0000037998" "0000065308" "0000065398" "0000097071" "0000065400" "0000097073" "0000065402" "0000097075" "0000065404" "0000097077" "0000065405" "0000097078" "0000081861" "0000132555" "0000091925" "0000150740" "0000095358" "0000154030" "0000095471" "0000154031" "0000095472" "0000154032" "0000095473" "0000154046" "0000105419" "0000170838" "0000175294" "0000395165" "0000227412" "0000465653" "0000227413" "0000465655" "0000232566" "0000474984" "0000285064" "0000640806" "0000285065" "0000640807" "0000285066" "0000640808" "0000285067" "0000640809" "0000285068" "0000640810" "0000285069" "0000640811" "0000285070" "0000640812" "0000285071" "0000640813" "0000285072" "0000640814" "0000285073" "0000640815" "0000285074" "0000640816" "0000285075" "0000640817" "0000285076" "0000640818" "0000285077" "0000640819" "0000285078" "0000640820" "0000285079" "0000640821" "0000285080" "0000640822" "0000285081" "0000640823" "0000285082" "0000640824" "0000285083" "0000640825" "0000285084" "0000640826" "0000285085" "0000640827" "0000285086" "0000640828" "0000285087" "0000640829" "0000285088" "0000640830" "0000285089" "0000640831" "0000285090" "0000640832" "0000285091" "0000640833" "0000285092" "0000640834" "0000285093" "0000640835" "0000285094" "0000640836" "0000285095" "0000640837" "0000285096" "0000640838" "0000285097" "0000640839" "0000285098" "0000640840" "0000285099" "0000640841" "0000285100" "0000640842" "0000285101" "0000640843" "0000285102" "0000640844" "0000285103" "0000640845" "0000285104" "0000640846" "0000285105" "0000640847" "0000285106" "0000640848" "0000285107" "0000640849" "0000285108" "0000640850" "0000285109" "0000640851" "0000285110" "0000640852" "0000285111" "0000640853" "0000285112" "0000640854" "0000285113" "0000640855" "0000285114" "0000640856" "0000285115" "0000640857" "0000285116" "0000640858" "0000285117" "0000640859" "0000285118" "0000640860" "0000285119" "0000640861" "0000285120" "0000640862" "0000285121" "0000640863" "0000285122" "0000640864" "0000285123" "0000640865" "0000285124" "0000640866" "0000285125" "0000640867" "0000285126" "0000640868" "0000285127" "0000640869" "0000285128" "0000640870" "0000285129" "0000640871" "0000285130" "0000640872" "0000285131" "0000640873" "0000285132" "0000640874" "0000285133" "0000640875" "0000285134" "0000640876" "0000285135" "0000640877" "0000285136" "0000640878" "0000285137" "0000640879" "0000285138" "0000640880" "0000285139" "0000640881" "0000285140" "0000640882" "0000285141" "0000640883" "0000285142" "0000640884" "0000285143" "0000640885" "0000285144" "0000640886" "0000285145" "0000640887" "0000285146" "0000640888" "0000285147" "0000640889" "0000285148" "0000640890" "0000285149" "0000640891" "0000285150" "0000640892" "0000285151" "0000640893" "0000285152" "0000640894" "0000285153" "0000640895" "0000285154" "0000640896" "0000285155" "0000640897" "0000285156" "0000640898" "0000285157" "0000640899" "0000285158" "0000640900" "0000285159" "0000640901" "0000285160" "0000640902" "0000285161" "0000640903" "0000285162" "0000640904" "0000285163" "0000640905" "0000285164" "0000640906" "0000285165" "0000640907" "0000285166" "0000640908" "0000285167" "0000640909" "0000285168" "0000640910" "0000285169" "0000640911" "0000285170" "0000640912" "0000285171" "0000640913" "0000285172" "0000640914" "0000285173" "0000640915" "0000285174" "0000640916" "0000285175" "0000640917" "0000285176" "0000640918" "0000285177" "0000640919" "0000285178" "0000640920" "0000285179" "0000640921" "0000285180" "0000640922" "0000285181" "0000640923" "0000285182" "0000640924" "0000285183" "0000640925" "0000285184" "0000640926" "0000285185" "0000640927" "0000285186" "0000640928" "0000285187" "0000640929" "0000285188" "0000640930" "0000285189" "0000640931" "0000285190" "0000640932" "0000285191" "0000640933" "0000285192" "0000640934" "0000285193" "0000640935" "0000285194" "0000640936" "0000285195" "0000640937" "0000285196" "0000640938" "0000285197" "0000640939" "0000285198" "0000640940" "0000285199" "0000640941" "0000285200" "0000640942" "0000285201" "0000640943" "0000285202" "0000640944" "0000285203" "0000640945" "0000285204" "0000640946" "0000285205" "0000640947" "0000285206" "0000640948" "0000285207" "0000640949" "0000285208" "0000640950" "0000285209" "0000640951" "0000285210" "0000640952" "0000285211" "0000640953" "0000285212" "0000640954" "0000285213" "0000640955" "0000285214" "0000640956" "0000285215" "0000640957" "0000285216" "0000640958" "0000285217" "0000640959" "0000285218" "0000640960" "0000285219" "0000640961" "0000285220" "0000640962" "0000285221" "0000640963" "0000285222" "0000640964" "0000285223" "0000640965" "0000285224" "0000640966" "0000285225" "0000640967" "0000285226" "0000640968" "0000285227" "0000640969" "0000285228" "0000640970" "0000285229" "0000640971" "0000285230" "0000640972" "0000285231" "0000640973" "0000285232" "0000640974" "0000285233" "0000640975" "0000285234" "0000640976" "0000285235" "0000640977" "0000285236" "0000640978" "0000285237" "0000640979" "0000285238" "0000640980" "0000285239" "0000640981" "0000285240" "0000640982" "0000285241" "0000640983" "0000285242" "0000640984" "0000285243" "0000640985" "0000285244" "0000640986" "0000285245" "0000640987" "0000285246" "0000640988" "0000285247" "0000640989" "0000285248" "0000640990" "0000285249" "0000640991" "0000285250" "0000640992" "0000285251" "0000640993" "0000285252" "0000640994" "0000285253" "0000640995" "0000285254" "0000640996" "0000285255" "0000640997" "0000285256" "0000640998" "0000285257" "0000640999" "0000295798" "0000652487" "0000295799" "0000652488" "0000317296" "0000699922" "0000321104" "0000703895" "0000325475" "0000708484" "0000380963" "0000794216" "0000444898" "0000946834" "0000444899" "0000946835" "0000459732" "0001017846"