### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FGFR2) # 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}}" "FGFR2" "fibroblast growth factor receptor 2" "10" "q25.3-q26" "unknown" "NG_012449.1" "UD_132119052828" "" "http://www.LOVD.nl/FGFR2" "" "1" "3689" "2263" "176943" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/FGFR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-06-25 00:00:00" "00006" "2014-11-02 20:10:34" "00006" "2025-11-13 13:04:16" ## 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}}" "00000235" "FGFR2" "transcript variant 1" "003" "NM_000141.4" "" "NP_000132.3" "" "" "" "-647" "3993" "2466" "123357972" "123237844" "00008" "2012-06-25 11:26:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00524" "Apert" "Apert syndrome" "AD" "101200" "" "" "" "00006" "2014-09-16 21:29:30" "00006" "2021-12-10 21:51:32" "00525" "Crouzon" "Crouzon syndrome" "AD" "123500" "" "" "" "00006" "2014-09-16 21:35:03" "00006" "2021-12-10 21:51:32" "00526" "Pfeiffer" "Pfeiffer syndrome" "AD" "101600" "" "" "" "00006" "2014-09-16 21:40:49" "00006" "2021-12-10 21:51:32" "00527" "MNKES" "Muenke syndrome (MNKES)" "AD" "602849" "" "" "" "00006" "2014-09-16 21:45:40" "00006" "2021-12-10 21:51:32" "00528" "BSTVS" "Beare-Stevenson syndrome (BSTVS)" "AD" "123790" "" "" "" "00006" "2014-09-16 21:48:35" "00006" "2021-12-10 21:51:32" "00529" "SCS" "Saethre-Chotzen syndrome, with/without eyelid anomalies (SCS)" "AD" "101400" "" "autosomal dominant" "" "00006" "2014-09-16 22:28:06" "00006" "2021-12-10 21:51:32" "00599" "LADD" "lacrimoauriculodentodigital syndrome" "AD" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-05-31 10:17:32" "00650" "JWS" "Jackson-Weiss syndrome" "AD" "123150" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00672" "ABS2" "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS-2)" "AD" "207410" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00673" "-" "Scaphocephaly, maxillary retrusion, and mental retardation" "" "609579" "" "" "" "00006" "2014-09-25 23:29:40" "" "" "00674" "BBDS" "dysplasia, bent bone syndrome (BBDS)" "AD" "614592" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00949" "craniosynost." "craniosynostosis, nonspecific" "AR" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00950" "-" "dysplasia, craniofacial-skeletal-dermatologic" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "00951" "-" "Scaphocephaly and Axenfeld-Rieger anomaly" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "" "" "01941" "BTDD" "biotinidase deficiency" "AR" "253260" "" "biotinidase deficiency, a form of multiple carboxylase deficiency" "autosomal recessive, caused by homozygous or compound heterozygous variants" "00006" "2014-09-25 23:29:40" "00006" "2025-11-20 13:57:20" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05586" "OFC" "cleft, orofacial (OFC)" "" "" "" "" "" "00006" "2019-03-29 16:06:15" "" "" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" "07092" "LADD1" "lacrimoauriculodentodigital syndrome, type 1 (Levy-Hollister)" "AD" "149730" "" "" "" "00006" "2024-05-31 10:18:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{geneid}}" "{{diseaseid}}" "FGFR2" "00139" "FGFR2" "00524" "FGFR2" "00525" "FGFR2" "00526" "FGFR2" "00528" "FGFR2" "00529" "FGFR2" "00599" "FGFR2" "00650" "FGFR2" "00672" "FGFR2" "00673" "FGFR2" "00674" "FGFR2" "00949" "FGFR2" "00950" "FGFR2" "00951" "FGFR2" "03381" "FGFR2" "07092" ## Individuals ## Do not remove or alter this header ## ## Count = 73 "{{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}}" "00017818" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "white" "" "00017819" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "" "Spain" "" "0" "" "" "white" "" "00017820" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "" "Spain" "" "0" "" "" "" "" "00017821" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "" "Spain" "" "0" "" "" "" "" "00019774" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00019775" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019776" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "" "Spain" "" "0" "" "" "" "" "00019777" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "" "Spain" "" "0" "" "" "" "" "00019778" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "?" "no" "Spain" "" "0" "" "" "" "" "00019779" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019780" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00019781" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019782" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "?" "Spain" "" "0" "" "" "" "" "00019783" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019784" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019785" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00019786" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00019787" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00019788" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019789" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019790" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019792" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00019793" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00019794" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00019795" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00019798" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "" "" "0" "" "" "" "" "00019799" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019800" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019801" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019802" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "?" "no" "Spain" "" "0" "" "" "" "" "00019803" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019804" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019805" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "(Spain)" "" "0" "" "" "Morocco" "" "00019806" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "(Spain)" "?" "0" "" "" "Morroco" "" "00019807" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019808" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00019809" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019810" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00019811" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "?" "no" "Spain" "" "0" "" "" "" "" "00019823" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "?" "0" "" "" "" "" "00019825" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00019827" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019828" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019829" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019830" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00019831" "" "" "" "1" "" "00738" "{PMID:Paumard-Hernandez 2015:25271085}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00024242" "" "" "" "1" "" "00006" "{PMID:Gilissen 2014:24896178}" "" "" "" "" "" "0" "" "" "" "" "00050476" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050520" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00181106" "" "" "" "1" "" "02575" "" "" "M" "?" "Sri Lanka" "" "0" "" "" "" "" "00231542" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat308" "00231552" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat125" "00248147" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00302991" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat36" "00331438" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "Arab" "DG08RC00033" "00332561" "" "" "" "7" "" "00006" "{PMID:Rohmann 2006:16501574}" "4-generation family, 7 affected (3F, 4M)" "F;M" "" "Turkey" "" "0" "" "" "" "LADD-IstPatIII4" "00332562" "" "" "" "6" "" "00006" "{PMID:Rohmann 2006:16501574}" "3-generation family, 6 affected (3F, 3M)" "F;M" "" "Netherlands" "" "0" "" "" "" "LADD-NijPatIII4" "00332563" "" "" "" "6" "" "00006" "{PMID:Rohmann 2006:16501574}" "3-generation family, 6 affected (5F, M)" "F;M" "" "England" "" "0" "" "" "" "LADD-LePatI2" "00332564" "" "" "" "1" "" "00006" "{PMID:Rohmann 2006:16501574}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Belgium" "" "0" "" "" "" "LADD-BeSpo" "00334952" "" "" "" "1" "" "03789" "" "" "M" "no" "Saudi Arabia" "" "" "" "" "" "" "00334954" "" "" "" "1" "" "03789" "" "" "M" "no" "Saudi Arabia" "" "" "" "" "" "" "00334955" "" "" "" "1" "" "03789" "" "" "F" "yes" "Saudi Arabia" "" "" "" "" "" "" "00335045" "" "" "" "1" "" "03789" "" "" "F" "yes" "Saudi Arabia" "" "" "" "" "" "" "00335046" "" "" "" "1" "" "03789" "" "" "M" "no" "Saudi Arabia" "" "" "" "" "" "" "00358831" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "176740" "00374111" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "F" "" "France" "" "0" "" "" "" "" "00402813" "" "" "" "1" "" "04221" "{PMID:Reyna-Fabian 2024:38909058}" "familial case, father (unaffected heterozygous carrier)" "M" "no" "Mexico" "" "0" "" "none" "" "Pat4" "00426643" "" "" "" "1" "" "00000" "{PMID:Peng 2016:27527345}" "" "" "" "Taiwan" "" "0" "" "" "Taiwanese" "?" "00440419" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED1181.1" "00445046" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "Mb Crouzon" "00451617" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Familial case (brother effected). Co-occurrence of two different monogenic diseases" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-054" "00468894" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468895" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 72 "{{individualid}}" "{{diseaseid}}" "00017818" "00525" "00017819" "00525" "00017820" "00526" "00017821" "00526" "00019774" "00526" "00019775" "00525" "00019776" "00525" "00019777" "00525" "00019778" "00525" "00019779" "00525" "00019780" "00527" "00019781" "00525" "00019782" "00525" "00019783" "00525" "00019784" "00526" "00019785" "00526" "00019786" "00526" "00019787" "00526" "00019788" "00525" "00019789" "00525" "00019790" "00525" "00019792" "00525" "00019793" "00525" "00019794" "00525" "00019795" "00525" "00019798" "00524" "00019799" "00524" "00019800" "00526" "00019801" "00526" "00019802" "00526" "00019803" "00526" "00019804" "00526" "00019805" "00526" "00019806" "00526" "00019807" "00526" "00019808" "00526" "00019809" "00526" "00019810" "00526" "00019811" "00526" "00019823" "00528" "00019825" "00528" "00019827" "00525" "00019828" "00525" "00019829" "00525" "00019830" "00525" "00019831" "00525" "00024242" "00000" "00050476" "00198" "00050520" "00198" "00181106" "00524" "00231542" "05597" "00231552" "05597" "00302991" "05521" "00331438" "05517" "00332561" "00599" "00332562" "00599" "00332563" "00599" "00332564" "00599" "00334952" "00524" "00334954" "00524" "00334955" "00524" "00335045" "00526" "00335046" "00525" "00358831" "00525" "00374111" "00198" "00402813" "00599" "00426643" "05586" "00440419" "00198" "00445046" "00296" "00451617" "01941" "00468894" "00198" "00468895" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00296, 00524, 00525, 00526, 00527, 00528, 00529, 00599, 00650, 00672, 00673, 00674, 00949, 00950, 00951, 01941, 03381, 05517, 05521, 05586, 05597, 07092 ## Count = 72 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000017616" "00524" "00019798" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017617" "00524" "00019799" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017618" "00525" "00017818" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017619" "00525" "00017819" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017620" "00525" "00019775" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017621" "00525" "00019776" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017622" "00525" "00019777" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017623" "00525" "00019778" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017624" "00526" "00017820" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017625" "00526" "00017821" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017626" "00525" "00019779" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017627" "00527" "00019780" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017628" "00528" "00019823" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017629" "00528" "00019825" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017630" "00525" "00019781" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017631" "00525" "00019782" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017632" "00525" "00019783" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017633" "00525" "00019788" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017635" "00525" "00019789" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017636" "00525" "00019790" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017637" "00525" "00019792" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017638" "00525" "00019793" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017639" "00525" "00019794" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017640" "00525" "00019795" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017641" "00525" "00019827" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017642" "00525" "00019828" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017643" "00525" "00019829" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017644" "00525" "00019830" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017645" "00525" "00019831" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017646" "00526" "00019784" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017647" "00526" "00019785" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017648" "00526" "00019786" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017649" "00526" "00019787" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017650" "00526" "00019800" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017651" "00526" "00019801" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017652" "00526" "00019811" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017653" "00526" "00019810" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017654" "00526" "00019806" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017655" "00526" "00019802" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017656" "00526" "00019803" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017657" "00526" "00019809" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017658" "00526" "00019807" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017659" "00526" "00019804" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017660" "00526" "00019808" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017661" "00526" "00019805" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017747" "00526" "00019774" "00738" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037088" "00198" "00050476" "00006" "Unknown" "" "clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth" "" "" "" "" "" "" "" "" "" "" "" "0000037132" "00198" "00050520" "00006" "Isolated (sporadic)" "" "upper limb phocomelia, aplasia/hypoplasia of the thumb, patent ductus arteriosus, vesicoureteral reflux, conical incisor, abnormality of tear glands or tear production, feeding difficulties in infancy, proportionate short stature, global developmental delay, intrauterine growth retardation" "" "" "" "" "" "" "" "" "" "" "" "0000143352" "00524" "00181106" "02575" "Isolated (sporadic)" "" "Corpus callosum agenesis, small brain, mesocardia, syndactylies on hand and feet" "" "" "" "" "" "" "" "" "Apert syndrome" "" "" "0000173933" "05597" "00231542" "00006" "Unknown" "" "ovotesticular" "" "" "" "" "" "" "" "" "" "46,XX disorder of sex development" "" "0000173943" "05597" "00231552" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000187148" "00198" "00248147" "01164" "Unknown" "" "HP:0001159 (Syndactyly)" "" "" "" "" "" "" "" "" "" "" "" "0000230074" "05521" "00302991" "00006" "Isolated (sporadic)" "" "Fever related seizures; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000249630" "05517" "00331438" "00000" "Familial, autosomal dominant" "" "Abnormality of the face, Caudal appendage, Syndactyly, Natal teeth, Choanal atresia, DyspYes" "" "" "" "" "" "" "" "" "Craniosynostosis syndromes" "skeletal dysplasia" "" "0000250749" "00599" "00332561" "00006" "Familial, autosomal dominant" "" "no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, facial dysmorphism (high forehead, telecanthus, hypotelorism, downslanting palpebral fissures, prognathia)" "" "" "" "" "" "" "" "" "LADD" "LADD syndrome" "" "0000250750" "00599" "00332562" "00006" "Familial, autosomal dominant" "" "no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism" "" "" "" "" "" "" "" "" "LADD" "LADD syndrome" "" "0000250751" "00599" "00332563" "00006" "Familial, autosomal dominant" "" "no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism" "" "" "" "" "" "" "" "" "LADD" "LADD syndrome" "" "0000250752" "00599" "00332564" "00006" "Isolated (sporadic)" "" "no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism" "" "" "" "" "" "" "" "" "LADD" "LADD syndrome" "" "0000252699" "00524" "00334952" "03789" "Familial, autosomal dominant" "" "" "" "00y11m" "" "" "" "" "" "" "Apert Syndrome" "" "" "0000252701" "00524" "00334954" "03789" "Familial, autosomal dominant" "" "" "" "00y05m" "" "" "" "" "" "" "Apert Syndrome" "" "" "0000252703" "00524" "00334955" "03789" "Familial, autosomal dominant" "" "" "" "00y06m" "" "" "" "" "" "" "Apert Syndrome" "" "" "0000252753" "00526" "00335045" "03789" "Familial, autosomal dominant" "" "" "" "01y03m" "" "" "" "" "" "" "Pfeiffer syndrome -Type 1: \'mild\'" "" "" "0000252754" "00525" "00335046" "03789" "Familial, autosomal dominant" "" "" "" "06y" "" "" "" "" "" "" "Crouzon Syndrome" "" "" "0000254046" "00525" "00358831" "01164" "Familial, autosomal dominant" "54y" "Crouzon syndrome, craniosynostosis, scoliosis, exophthalmos, limited elbow extension, right eye almost blind, left eye visual acuity approx. 2%, no hearing loss, father, brother and his daughter also affected." "" "" "" "" "" "" "" "" "" "" "" "0000269322" "00198" "00374111" "00006" "Isolated (sporadic)" "<0d" "23w-fetus, ultrasound Craniostenosis, ventriculomegaly, vertebral segmentation defect; autopsy intrauterine growth retardation, craniostenosis, facial dysmorphism, cervical and thoracic haemivertebrae, bilateral ventriculomegaly, bifid uterus; Normal thumbs, no radial-ulnar synostosis" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000295573" "00599" "00402813" "04221" "Familial, autosomal dominant" "02y01m" "corneal opacity, anophthalmia, neurodevelopmental delay, hipotonia, abnormality of the pinna, severe hearing impairment, atresia of the external auditory canal, conical tooth, syndactyly, small nail." "" "" "anophthalmia (HPO:0000528)" "" "" "" "" "" "LADD syndrome" "anophthalmia" "" "0000317795" "05586" "00426643" "00000" "Unknown" "" "left cleft lip" "" "" "" "" "" "" "" "" "nonsyndromic orofacial cleft" "" "" "0000330329" "00198" "00440419" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Lacrimoauriculodentodigital syndrome (MIM #149730)" "" "" "0000334298" "00296" "00445046" "00006" "Familial, autosomal dominant" "" "bilateral cataract" "" "" "" "" "" "" "" "" "" "cataract" "" "0000340288" "01941" "00451617" "04221" "Familial, autosomal recessive" "" "Bicoronal synostosis, congenital pyloric atresia" "" "00y00m01d" "" "" "" "" "" "" "Biotinidase deficiency" "Biotinidase deficiency" "" "0000354047" "00198" "00468894" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354048" "00198" "00468895" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 73 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017800" "00017818" "1" "00738" "00738" "2014-07-01 15:15:01" "" "" "SEQ" "DNA" "" "" "0000017801" "00017819" "1" "00738" "00738" "2014-07-01 15:29:18" "" "" "SEQ" "DNA" "" "" "0000017802" "00017820" "1" "00738" "00738" "2014-07-01 15:35:03" "" "" "SEQ" "DNA" "" "" "0000017803" "00017821" "1" "00738" "00738" "2014-07-01 15:39:05" "" "" "SEQ" "DNA" "" "" "0000019758" "00019774" "1" "00738" "00738" "2014-08-26 08:38:22" "" "" "SEQ" "DNA" "" "" "0000019759" "00019775" "1" "00738" "00738" "2014-08-26 08:47:24" "" "" "SEQ" "DNA" "" "" "0000019760" "00019776" "1" "00738" "00738" "2014-08-26 08:52:23" "" "" "SEQ" "DNA" "" "" "0000019761" "00019777" "1" "00738" "00738" "2014-08-26 08:55:24" "" "" "SEQ" "DNA" "" "" "0000019762" "00019778" "1" "00738" "00738" "2014-08-26 08:59:01" "" "" "SEQ" "DNA" "" "" "0000019763" "00019779" "1" "00738" "00738" "2014-08-26 09:15:38" "" "" "SEQ" "DNA" "" "" "0000019764" "00019780" "1" "00738" "00738" "2014-08-26 09:18:19" "" "" "SEQ" "DNA" "" "" "0000019765" "00019781" "1" "00738" "00738" "2014-08-26 09:23:21" "" "" "SEQ" "DNA" "" "" "0000019766" "00019782" "1" "00738" "00738" "2014-08-26 09:27:07" "" "" "SEQ" "DNA" "" "" "0000019767" "00019783" "1" "00738" "00738" "2014-08-26 09:33:35" "" "" "SEQ" "DNA" "" "" "0000019768" "00019784" "1" "00738" "00738" "2014-08-26 09:42:08" "" "" "SEQ" "DNA" "" "" "0000019769" "00019785" "1" "00738" "00738" "2014-08-26 09:44:28" "" "" "SEQ" "DNA" "" "" "0000019770" "00019786" "1" "00738" "00738" "2014-08-26 09:47:56" "" "" "SEQ" "DNA" "" "" "0000019771" "00019787" "1" "00738" "00738" "2014-08-26 09:52:22" "" "" "SEQ" "DNA" "" "" "0000019772" "00019788" "1" "00738" "00738" "2014-08-26 09:58:06" "" "" "SEQ" "DNA" "" "" "0000019773" "00019789" "1" "00738" "00738" "2014-08-26 10:08:46" "" "" "SEQ" "DNA" "" "" "0000019774" "00019790" "1" "00738" "00738" "2014-08-26 10:13:22" "" "" "SEQ" "DNA" "" "" "0000019776" "00019792" "1" "00738" "00738" "2014-08-26 10:21:27" "" "" "SEQ" "DNA" "" "" "0000019777" "00019793" "1" "00738" "00738" "2014-08-26 10:26:50" "" "" "SEQ" "DNA" "" "" "0000019778" "00019794" "1" "00738" "00738" "2014-08-26 10:29:59" "" "" "SEQ" "DNA" "" "" "0000019779" "00019795" "1" "00738" "00738" "2014-08-26 11:01:09" "" "" "SEQ" "DNA" "" "" "0000019782" "00019798" "1" "00738" "00738" "2014-08-26 11:31:14" "" "" "SEQ" "DNA" "" "" "0000019783" "00019799" "1" "00738" "00738" "2014-08-26 11:34:48" "" "" "SEQ" "DNA" "" "" "0000019784" "00019800" "1" "00738" "00738" "2014-08-26 11:45:38" "" "" "SEQ" "DNA" "" "" "0000019785" "00019801" "1" "00738" "00738" "2014-08-26 11:48:20" "" "" "SEQ" "DNA" "" "" "0000019786" "00019802" "1" "00738" "00738" "2014-08-26 11:54:52" "" "" "SEQ" "DNA" "" "" "0000019787" "00019803" "1" "00738" "00738" "2014-08-26 11:57:34" "00738" "2014-08-26 12:00:12" "SEQ" "DNA" "" "" "0000019788" "00019804" "1" "00738" "00738" "2014-08-26 12:03:34" "" "" "SEQ" "DNA" "" "" "0000019789" "00019805" "1" "00738" "00738" "2014-08-26 12:12:34" "" "" "SEQ" "DNA" "" "" "0000019790" "00019806" "1" "00738" "00738" "2014-08-26 12:16:25" "" "" "SEQ" "DNA" "" "" "0000019791" "00019807" "1" "00738" "00738" "2014-08-26 12:18:34" "" "" "SEQ" "DNA" "" "" "0000019792" "00019808" "1" "00738" "00738" "2014-08-26 12:21:48" "" "" "SEQ" "DNA" "" "" "0000019793" "00019809" "1" "00738" "00738" "2014-08-26 12:28:12" "" "" "SEQ" "DNA" "" "" "0000019794" "00019810" "1" "00738" "00738" "2014-08-26 12:31:33" "" "" "SEQ" "DNA" "" "" "0000019795" "00019811" "1" "00738" "00738" "2014-08-26 12:38:25" "" "" "SEQ" "DNA" "" "" "0000019806" "00019823" "1" "00738" "00738" "2014-08-26 13:16:29" "" "" "SEQ-NG" "DNA" "" "" "0000019807" "00019825" "1" "00738" "00738" "2014-08-26 13:19:47" "" "" "SEQ" "DNA" "" "" "0000019811" "00019827" "1" "00738" "00738" "2014-08-26 13:43:58" "" "" "SEQ" "DNA" "" "" "0000019812" "00019828" "1" "00738" "00738" "2014-08-26 13:48:03" "" "" "SEQ" "DNA" "" "" "0000019813" "00019829" "1" "00738" "00738" "2014-08-26 13:50:55" "" "" "SEQ" "DNA" "" "" "0000019814" "00019830" "1" "00738" "00738" "2014-08-26 13:53:40" "" "" "SEQ" "DNA" "" "" "0000019815" "00019831" "1" "00738" "00738" "2014-08-26 13:56:33" "" "" "SEQ" "DNA" "" "" "0000024236" "00024242" "1" "00006" "00006" "2014-11-08 17:04:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000050421" "00050476" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050465" "00050520" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000182063" "00181106" "1" "02575" "02575" "2018-09-28 13:42:09" "" "" "SEQ-NG" "DNA" "" "" "0000232641" "00231542" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232651" "00231552" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000249252" "00248147" "1" "01164" "01164" "2019-07-19 11:43:21" "" "" "SEQ-NG-S" "DNA" "" "" "0000304116" "00302991" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000332657" "00331438" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000333785" "00332561" "1" "00006" "00006" "2021-02-22 18:25:41" "" "" "SEQ" "DNA" "" "" "0000333786" "00332562" "1" "00006" "00006" "2021-02-22 18:25:41" "" "" "SEQ" "DNA" "" "" "0000333787" "00332563" "1" "00006" "00006" "2021-02-22 18:25:41" "" "" "SEQ" "DNA" "" "" "0000333788" "00332564" "1" "00006" "00006" "2021-02-22 18:25:41" "" "" "SEQ" "DNA" "" "" "0000336183" "00334952" "1" "03789" "03789" "2021-03-02 14:59:00" "" "" "SEQ" "RNA" "" "" "0000336185" "00334954" "1" "03789" "03789" "2021-03-02 15:03:32" "" "" "SEQ" "RNA" "" "" "0000336187" "00334955" "1" "03789" "03789" "2021-03-02 15:28:45" "" "" "SEQ" "RNA" "" "" "0000336274" "00335045" "1" "03789" "03789" "2021-03-03 08:49:24" "" "" "SEQ" "DNA" "" "" "0000336275" "00335046" "1" "03789" "03789" "2021-03-03 08:54:46" "" "" "SEQ" "DNA" "" "" "0000360061" "00358831" "1" "01164" "01164" "2021-03-15 15:00:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000375304" "00374111" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000404054" "00402813" "1" "04221" "04221" "2022-02-10 23:39:43" "04221" "2022-02-11 17:58:21" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000427961" "00426643" "1" "00000" "03840" "2022-12-02 10:07:08" "" "" "SEQ-NG;SEQ" "DNA" "" "next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study" "0000441904" "00440419" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446616" "00445046" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000453219" "00451617" "1" "04221" "04221" "2024-06-14 21:05:56" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000470562" "00468894" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470563" "00468895" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 69 "{{screeningid}}" "{{geneid}}" "0000017800" "FGFR2" "0000017801" "FGFR2" "0000017802" "FGFR2" "0000017803" "FGFR2" "0000019758" "FGFR2" "0000019759" "FGFR2" "0000019760" "FGFR2" "0000019761" "FGFR2" "0000019762" "FGFR2" "0000019763" "FGFR2" "0000019764" "FGFR2" "0000019765" "FGFR2" "0000019766" "FGFR2" "0000019767" "FGFR2" "0000019768" "FGFR2" "0000019769" "FGFR2" "0000019770" "FGFR2" "0000019771" "FGFR2" "0000019772" "FGFR2" "0000019773" "FGFR2" "0000019774" "FGFR2" "0000019776" "FGFR2" "0000019777" "FGFR2" "0000019778" "FGFR2" "0000019779" "FGFR2" "0000019782" "FGFR2" "0000019783" "FGFR2" "0000019784" "FGFR2" "0000019785" "FGFR2" "0000019786" "FGFR2" "0000019787" "FGFR2" "0000019788" "FGFR2" "0000019789" "FGFR2" "0000019790" "FGFR2" "0000019791" "FGFR2" "0000019792" "FGFR2" "0000019793" "FGFR2" "0000019794" "FGFR2" "0000019795" "FGFR2" "0000019806" "FGFR2" "0000019807" "FGFR2" "0000019811" "FGFR2" "0000019812" "FGFR2" "0000019813" "FGFR2" "0000019814" "FGFR2" "0000019815" "FGFR2" "0000024236" "FGFR2" "0000050465" "AASS" "0000050465" "FGFR2" "0000182063" "FGFR2" "0000232641" "FGFR2" "0000232651" "AR" "0000232651" "FGFR2" "0000232651" "NR5A1" "0000304116" "FGFR2" "0000332657" "FGFR2" "0000333785" "FGFR2" "0000333786" "FGFR2" "0000333787" "FGFR2" "0000333788" "FGFR2" "0000336183" "FGFR2" "0000336185" "FGFR2" "0000336187" "FGFR2" "0000336274" "FGFR2" "0000336275" "FGFR2" "0000360061" "FGFR2" "0000375304" "FGFR2" "0000427961" "FGFR2" "0000453219" "BTD" ## 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 = 285 "{{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}}" "0000037968" "0" "75" "10" "123276847" "123276847" "subst" "0" "00738" "FGFR2_000025" "g.123276847A>G" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121517333A>G" "" "likely pathogenic" "" "0000037969" "0" "75" "10" "123276831" "123276831" "subst" "0" "00738" "FGFR2_000024" "g.123276831A>G" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121517317A>G" "" "likely pathogenic" "" "0000037970" "0" "70" "10" "123279559" "1232795687" "del" "0" "00738" "FGFR2_000005" "g.123279559_1232795687del" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "likely pathogenic" "" "0000037971" "0" "75" "10" "123276938" "123276938" "subst" "0" "00738" "FGFR2_000011" "g.123276938G>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121517424G>C" "" "likely pathogenic" "" "0000040205" "0" "70" "10" "123279606" "123279606" "subst" "0" "00738" "FGFR2_000003" "g.123279606A>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121520092A>C" "" "likely pathogenic" "" "0000040206" "0" "70" "10" "123279599" "123279599" "subst" "4.06138E-6" "00738" "FGFR2_000004" "g.123279599C>A" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121520085C>A" "" "likely pathogenic" "" "0000040207" "0" "70" "10" "123279599" "123279599" "subst" "4.06138E-6" "00738" "FGFR2_000004" "g.123279599C>A" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121520085C>A" "" "likely pathogenic" "" "0000040208" "0" "70" "10" "123279599" "123279599" "subst" "4.06138E-6" "00738" "FGFR2_000004" "g.123279599C>A" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121520085C>A" "" "likely pathogenic" "" "0000040209" "0" "70" "10" "123279564" "123279564" "subst" "0" "00738" "FGFR2_000006" "g.123279564A>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "868C>T" "" "Unknown" "" "" "0" "" "" "g.121520050A>C" "" "likely pathogenic" "" "0000040210" "0" "70" "10" "123279558" "123279558" "subst" "0" "00738" "FGFR2_000008" "g.123279558T>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121520044T>C" "" "likely pathogenic" "" "0000040211" "0" "70" "10" "123276910" "123276910" "subst" "0" "00738" "FGFR2_000026" "g.123276910T>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517396T>C" "" "likely pathogenic" "" "0000040212" "0" "70" "10" "123276893" "123276893" "subst" "0" "00738" "FGFR2_000018" "g.123276893A>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517379A>T" "" "likely pathogenic" "" "0000040213" "0" "70" "10" "123276893" "123276893" "subst" "0" "00738" "FGFR2_000017" "g.123276893A>G" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517379A>G" "" "likely pathogenic" "" "0000040214" "0" "70" "10" "123276892" "123276892" "subst" "0" "00738" "FGFR2_000012" "g.123276892C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517378C>T" "" "likely pathogenic" "" "0000040215" "0" "70" "10" "123276892" "123276892" "subst" "0" "00738" "FGFR2_000012" "g.123276892C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517378C>T" "" "likely pathogenic" "" "0000040216" "0" "70" "10" "123276892" "123276892" "subst" "0" "00738" "FGFR2_000012" "g.123276892C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517378C>T" "" "likely pathogenic" "" "0000040217" "0" "70" "10" "123276892" "123276892" "subst" "0" "00738" "FGFR2_000012" "g.123276892C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517378C>T" "" "likely pathogenic" "" "0000040218" "0" "70" "10" "123276892" "123276892" "subst" "0" "00738" "FGFR2_000012" "g.123276892C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517378C>T" "" "likely pathogenic" "" "0000040219" "0" "70" "10" "123276891" "123276891" "subst" "0" "00738" "FGFR2_000023" "g.123276891G>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517377G>C" "" "likely pathogenic" "" "0000040220" "0" "70" "10" "123276891" "123276891" "subst" "0" "00738" "FGFR2_000023" "g.123276891G>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517377G>C" "" "likely pathogenic" "" "0000040221" "0" "90" "10" "123276885" "123276885" "subst" "4.06141E-6" "00738" "FGFR2_000027" "g.123276885C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "shown experimentally to affect splicing (Li 1995: Nat.Genet. PMID 7773284)" "Unknown" "" "" "0" "" "" "g.121517371C>T" "" "pathogenic" "" "0000040223" "0" "70" "10" "123276908" "123276908" "subst" "0" "00738" "FGFR2_000022" "g.123276908C>G" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517394C>G" "" "likely pathogenic" "" "0000040224" "0" "70" "10" "123276877" "123276877" "subst" "0" "00738" "FGFR2_000021" "g.123276877G>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517363G>C" "" "likely pathogenic" "" "0000040225" "0" "70" "10" "123276865" "123276865" "subst" "0" "00738" "FGFR2_000020" "g.123276865G>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517351G>C" "" "likely pathogenic" "" "0000040226" "0" "70" "10" "123276856" "123276856" "subst" "0" "00738" "FGFR2_000019" "g.123276856G>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517342G>C" "" "likely pathogenic" "" "0000040229" "0" "90" "10" "123279677" "123279677" "subst" "4.0861E-6" "00738" "FGFR2_000001" "g.123279677G>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "De novo" "" "" "0" "" "" "g.121520163G>C" "" "pathogenic" "" "0000040230" "0" "90" "10" "123279674" "123279674" "subst" "0" "00738" "FGFR2_000002" "g.123279674G>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "De novo" "" "" "0" "" "" "g.121520160G>C" "" "pathogenic" "" "0000040231" "0" "70" "10" "123279606" "123279606" "subst" "0" "00738" "FGFR2_000003" "g.123279606A>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121520092A>C" "" "likely pathogenic" "" "0000040232" "0" "70" "10" "123279599" "123279599" "subst" "4.06138E-6" "00738" "FGFR2_000004" "g.123279599C>A" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121520085C>A" "" "likely pathogenic" "" "0000040233" "0" "70" "10" "123279562" "123279562" "subst" "0" "00738" "FGFR2_000007" "g.123279562C>G" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121520048C>G" "" "likely pathogenic" "" "0000040234" "0" "90" "10" "123276979" "123276979" "subst" "0" "00738" "FGFR2_000009" "g.123276979T>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517465T>C" "" "pathogenic" "" "0000040235" "0" "90" "10" "123276978" "123276978" "subst" "0" "00738" "FGFR2_000010" "g.123276978C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517464C>T" "" "pathogenic" "" "0000040236" "0" "70" "10" "123276898" "123276898" "subst" "0" "00738" "FGFR2_000016" "g.123276898T>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517384T>C" "" "likely pathogenic" "" "0000040237" "0" "70" "10" "123276898" "123276898" "subst" "0" "00738" "FGFR2_000016" "g.123276898T>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517384T>C" "" "likely pathogenic" "" "0000040238" "0" "70" "10" "123276898" "123276898" "subst" "0" "00738" "FGFR2_000016" "g.123276898T>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517384T>C" "" "likely pathogenic" "" "0000040239" "0" "70" "10" "123276896" "123276896" "subst" "0" "00738" "FGFR2_000015" "g.123276896T>G" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517382T>G" "" "likely pathogenic" "" "0000040240" "0" "70" "10" "123276893" "123276893" "subst" "0" "00738" "FGFR2_000014" "g.123276893A>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517379A>C" "" "likely pathogenic" "" "0000040241" "0" "70" "10" "123276893" "123276893" "subst" "0" "00738" "FGFR2_000014" "g.123276893A>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517379A>C" "" "likely pathogenic" "" "0000040242" "0" "70" "10" "123276893" "123276893" "subst" "0" "00738" "FGFR2_000017" "g.123276893A>G" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517379A>G" "" "likely pathogenic" "" "0000040253" "0" "70" "10" "123274794" "123274794" "subst" "0" "00738" "FGFR2_000013" "g.123274794T>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "De novo" "" "" "0" "" "" "g.121515280T>C" "" "likely pathogenic" "" "0000040254" "0" "70" "10" "123274794" "123274794" "subst" "0" "00738" "FGFR2_000013" "g.123274794T>C" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "De novo" "" "" "0" "" "" "g.121515280T>C" "" "likely pathogenic" "" "0000040257" "0" "70" "10" "123276892" "123276892" "subst" "0" "00738" "FGFR2_000012" "g.123276892C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517378C>T" "" "likely pathogenic" "" "0000040258" "0" "70" "10" "123276892" "123276892" "subst" "0" "00738" "FGFR2_000012" "g.123276892C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517378C>T" "" "likely pathogenic" "" "0000040259" "0" "70" "10" "123276892" "123276892" "subst" "0" "00738" "FGFR2_000012" "g.123276892C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517378C>T" "" "likely pathogenic" "" "0000040260" "0" "70" "10" "123276892" "123276892" "subst" "0" "00738" "FGFR2_000012" "g.123276892C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517378C>T" "" "likely pathogenic" "" "0000040261" "0" "70" "10" "123276892" "123276892" "subst" "0" "00738" "FGFR2_000012" "g.123276892C>T" "" "{PMID:Paumard-Hernandez 2015:24939587}, {DOI:Paumard-Hernandez 2015:10.1038/ejhg.2014.205}" "" "" "" "Unknown" "" "" "0" "" "" "g.121517378C>T" "" "likely pathogenic" "" "0000046794" "0" "30" "10" "123260408" "123260408" "subst" "0" "00006" "FGFR2_000000" "g.123260408A>G" "" "{PMID:Gilissen 2014:24896178}" "" "123260408G>A (Ala498Val)" "variant does not match reference sequence\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.121500894A>G" "" "likely benign" "" "0000079401" "0" "90" "10" "123150811" "135380935" "dup" "0" "00006" "ACADSB_000015" "g.123150811_135380935dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000079668" "0" "90" "10" "123260357" "123260357" "subst" "0" "00006" "FGFR2_000028" "g.123260357G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.121500843G>A" "" "pathogenic" "" "0000249926" "0" "10" "10" "123247644" "123247644" "subst" "0.0190675" "02329" "FGFR2_000042" "g.123247644A>C" "" "" "" "FGFR2(NM_000141.4):c.1864-17T>G, FGFR2(NM_022970.3):c.1867-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121488130A>C" "" "benign" "" "0000250696" "0" "10" "10" "123310871" "123310871" "subst" "0.0445922" "02326" "FGFR2_000080" "g.123310871A>G" "" "" "" "FGFR2(NM_000141.4):c.557T>C (p.M186T), FGFR2(NM_022970.3):c.557T>C (p.M186T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121551357A>G" "" "benign" "" "0000253048" "0" "10" "10" "123310871" "123310871" "subst" "0.0445922" "01943" "FGFR2_000080" "g.123310871A>G" "" "" "" "FGFR2(NM_000141.4):c.557T>C (p.M186T), FGFR2(NM_022970.3):c.557T>C (p.M186T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121551357A>G" "" "benign" "" "0000253150" "0" "10" "10" "123247644" "123247644" "subst" "0.0190675" "01943" "FGFR2_000042" "g.123247644A>C" "" "" "" "FGFR2(NM_000141.4):c.1864-17T>G, FGFR2(NM_022970.3):c.1867-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121488130A>C" "" "benign" "" "0000253458" "0" "10" "10" "123279673" "123279673" "subst" "0.000346486" "01943" "FGFR2_000076" "g.123279673A>C" "" "" "" "FGFR2(NM_000141.4):c.759T>G (p.P253=), FGFR2(NM_000141.5):c.759T>G (p.(Pro253=), p.P253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520159A>C" "" "benign" "" "0000254229" "0" "30" "10" "123276915" "123276915" "subst" "8.12262E-6" "01943" "FGFR2_000068" "g.123276915A>G" "" "" "" "FGFR2(NM_000141.4):c.1002T>C (p.F334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517401A>G" "" "likely benign" "" "0000254580" "0" "30" "10" "123353309" "123353309" "subst" "0.00018274" "01943" "FGFR2_000089" "g.123353309A>C" "" "" "" "FGFR2(NM_000141.4):c.23T>G (p.I8S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121593795A>C" "" "likely benign" "" "0000255165" "0" "30" "10" "123278248" "123278248" "subst" "0.000272192" "01943" "FGFR2_000119" "g.123278248A>G" "" "" "" "FGFR2(NM_022970.3):c.1035T>C (p.Y345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121518734A>G" "" "likely benign" "" "0000255264" "0" "30" "10" "123274836" "123274836" "subst" "2.84444E-5" "01943" "FGFR2_000055" "g.123274836A>G" "" "" "" "FGFR2(NM_000141.4):c.1085-3T>C, FGFR2(NM_000141.5):c.1085-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121515322A>G" "" "likely benign" "" "0000255418" "0" "90" "10" "123276893" "123276893" "subst" "0" "01943" "FGFR2_000017" "g.123276893A>G" "" "" "" "FGFR2(NM_000141.4):c.1024T>C (p.C342R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517379A>G" "" "pathogenic" "" "0000255447" "0" "90" "10" "123279606" "123279606" "subst" "0" "01943" "FGFR2_000003" "g.123279606A>C" "" "" "" "FGFR2(NM_000141.4):c.826T>G (p.F276V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520092A>C" "" "pathogenic" "" "0000255609" "0" "90" "10" "123279633" "123279633" "subst" "0" "01943" "FGFR2_000092" "g.123279633A>G" "" "" "" "FGFR2(NM_000141.4):c.799T>C (p.S267P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520119A>G" "" "pathogenic" "" "0000255640" "0" "90" "10" "123279564" "123279564" "subst" "0" "01943" "FGFR2_000006" "g.123279564A>C" "" "" "" "FGFR2(NM_000141.4):c.868T>G (p.W290G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520050A>C" "" "pathogenic" "" "0000255641" "0" "90" "10" "123279564" "123279564" "subst" "0" "01943" "FGFR2_000091" "g.123279564A>G" "" "" "" "FGFR2(NM_000141.4):c.868T>C (p.W290R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520050A>G" "" "pathogenic" "" "0000255654" "0" "90" "10" "123276899" "123276899" "subst" "0" "01943" "FGFR2_000065" "g.123276899A>G" "" "" "" "FGFR2(NM_000141.4):c.1018T>C (p.Y340H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517385A>G" "" "pathogenic" "" "0000255655" "0" "90" "10" "123276899" "123276899" "subst" "0" "01943" "FGFR2_000066" "g.123276899A>T" "" "" "" "FGFR2(NM_000141.4):c.1018T>A (p.Y340N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517385A>T" "" "pathogenic" "" "0000256250" "0" "50" "10" "123276848" "123276848" "subst" "0" "01943" "FGFR2_000060" "g.123276848A>C" "" "" "" "FGFR2(NM_000141.4):c.1069T>G (p.L357V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517334A>C" "" "VUS" "" "0000280780" "0" "10" "10" "123239112" "123239112" "subst" "0.555866" "02325" "FGFR2_000030" "g.123239112G>A" "" "" "" "FGFR2(NM_000141.4):c.*259C>T, FGFR2(NM_001144915.2):c.2107C>T (p.L703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121479598G>A" "" "benign" "" "0000280781" "0" "10" "10" "123243197" "123243197" "subst" "0.561987" "02325" "FGFR2_000035" "g.123243197G>A" "" "" "" "FGFR2(NM_000141.4):c.2301+15C>T, FGFR2(NM_022970.3):c.2304+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121483683G>A" "" "benign" "" "0000280782" "0" "10" "10" "123298158" "123298158" "subst" "0.781323" "02325" "FGFR2_000078" "g.123298158T>C" "" "" "" "FGFR2(NM_022970.3):c.696A>G (p.V232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121538644T>C" "" "benign" "" "0000283172" "0" "90" "10" "123276885" "123276885" "subst" "4.06141E-6" "02329" "FGFR2_000027" "g.123276885C>T" "" "" "" "FGFR2(NM_000141.4):c.1032G>A (p.A344=), FGFR2(NM_000141.5):c.1032G>A (p.A344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517371C>T" "" "pathogenic" "" "0000283173" "0" "50" "10" "123263395" "123263395" "subst" "3.25005E-5" "02329" "FGFR2_000052" "g.123263395G>A" "" "" "" "FGFR2(NM_000141.4):c.1348C>T (p.R450C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121503881G>A" "" "VUS" "" "0000283174" "0" "10" "10" "123325158" "123325158" "subst" "0.00487294" "02329" "FGFR2_000086" "g.123325158G>A" "" "" "" "FGFR2(NM_000141.4):c.170C>T (p.(Ser57Leu), p.S57L), FGFR2(NM_022970.3):c.170C>T (p.S57L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121565644G>A" "" "benign" "" "0000283175" "0" "10" "10" "123247550" "123247550" "subst" "0.00585874" "02329" "FGFR2_000039" "g.123247550G>A" "" "" "" "FGFR2(NM_000141.4):c.1941C>T (p.L647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121488036G>A" "" "benign" "" "0000283176" "0" "10" "10" "123325034" "123325034" "subst" "0.00814273" "02329" "FGFR2_000085" "g.123325034C>T" "" "" "" "FGFR2(NM_000141.4):c.294G>A (p.T98=), FGFR2(NM_000141.5):c.294G>A (p.(Thr98=)), FGFR2(NM_022970.3):c.294G>A (p.T98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121565520C>T" "" "benign" "" "0000283926" "0" "90" "10" "123276892" "123276892" "subst" "0" "02326" "FGFR2_000012" "g.123276892C>T" "" "" "" "FGFR2(NM_000141.4):c.1025G>A (p.C342Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517378C>T" "" "pathogenic" "" "0000283927" "0" "10" "10" "123325158" "123325158" "subst" "0.00487294" "02326" "FGFR2_000086" "g.123325158G>A" "" "" "" "FGFR2(NM_000141.4):c.170C>T (p.(Ser57Leu), p.S57L), FGFR2(NM_022970.3):c.170C>T (p.S57L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121565644G>A" "" "benign" "" "0000283928" "0" "10" "10" "123239112" "123239112" "subst" "0.555866" "02326" "FGFR2_000030" "g.123239112G>A" "" "" "" "FGFR2(NM_000141.4):c.*259C>T, FGFR2(NM_001144915.2):c.2107C>T (p.L703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121479598G>A" "" "benign" "" "0000283929" "0" "10" "10" "123243197" "123243197" "subst" "0.561987" "02326" "FGFR2_000035" "g.123243197G>A" "" "" "" "FGFR2(NM_000141.4):c.2301+15C>T, FGFR2(NM_022970.3):c.2304+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121483683G>A" "" "benign" "" "0000287394" "0" "90" "10" "123276905" "123276905" "subst" "0" "01943" "FGFR2_000067" "g.123276905C>G" "" "" "" "FGFR2(NM_000141.4):c.1012G>C (p.G338R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517391C>G" "" "pathogenic" "" "0000287395" "0" "90" "10" "123276898" "123276898" "subst" "0" "01943" "FGFR2_000064" "g.123276898T>G" "" "" "" "FGFR2(NM_000141.4):c.1019A>C (p.Y340S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517384T>G" "" "pathogenic" "" "0000287396" "0" "90" "10" "123276898" "123276898" "subst" "0" "01943" "FGFR2_000016" "g.123276898T>C" "" "" "" "FGFR2(NM_000141.4):c.1019A>G (p.Y340C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517384T>C" "" "pathogenic" "" "0000287397" "0" "90" "10" "123276892" "123276892" "subst" "0" "01943" "FGFR2_000012" "g.123276892C>T" "" "" "" "FGFR2(NM_000141.4):c.1025G>A (p.C342Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517378C>T" "" "pathogenic" "" "0000287398" "0" "90" "10" "123276892" "123276892" "subst" "0" "01943" "FGFR2_000062" "g.123276892C>G" "" "" "" "FGFR2(NM_000141.4):c.1025G>C (p.C342S), FGFR2(NM_000141.5):c.1025G>C (p.C342S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517378C>G" "" "pathogenic" "" "0000287399" "0" "90" "10" "123276892" "123276892" "subst" "0" "01943" "FGFR2_000063" "g.123276892C>A" "" "" "" "FGFR2(NM_000141.4):c.1025G>T (p.C342F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517378C>A" "" "pathogenic" "" "0000287400" "0" "90" "10" "123276891" "123276891" "subst" "0" "01943" "FGFR2_000023" "g.123276891G>C" "" "" "" "FGFR2(NM_000141.4):c.1026C>G (p.C342W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517377G>C" "" "pathogenic" "" "0000287401" "0" "30" "10" "123276888" "123276888" "subst" "0" "01943" "FGFR2_000061" "g.123276888C>T" "" "" "" "FGFR2(NM_000141.4):c.1029G>A (p.L343=), FGFR2(NM_000141.5):c.1029G>A (p.(Leu343=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517374C>T" "" "likely benign" "" "0000287402" "0" "90" "10" "123276885" "123276885" "subst" "4.06141E-6" "01943" "FGFR2_000027" "g.123276885C>T" "" "" "" "FGFR2(NM_000141.4):c.1032G>A (p.A344=), FGFR2(NM_000141.5):c.1032G>A (p.A344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517371C>T" "" "pathogenic" "" "0000287403" "0" "90" "10" "123276865" "123276865" "subst" "0" "01943" "FGFR2_000020" "g.123276865G>C" "" "" "" "FGFR2(NM_000141.4):c.1052C>G (p.S351C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517351G>C" "" "pathogenic" "" "0000287404" "0" "90" "10" "123276856" "123276856" "subst" "0" "01943" "FGFR2_000019" "g.123276856G>C" "" "" "" "FGFR2(NM_000141.4):c.1061C>G (p.S354C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517342G>C" "" "pathogenic" "" "0000287405" "0" "90" "10" "123276834" "123276834" "subst" "0" "01943" "FGFR2_000059" "g.123276834T>A" "" "" "" "FGFR2(NM_000141.4):c.1083A>T (p.P361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517320T>A" "" "pathogenic" "" "0000287406" "0" "90" "10" "123276829" "123276831" "delins" "0" "01943" "FGFR2_000057" "g.123276829_123276831delinsC" "" "" "" "FGFR2(NM_000141.4):c.1084+2_1084+4delTATinsG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517315_121517317delinsC" "" "pathogenic" "" "0000287407" "0" "90" "10" "123276830" "123276830" "subst" "0" "01943" "FGFR2_000058" "g.123276830T>C" "" "" "" "FGFR2(NM_000141.4):c.1084+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517316T>C" "" "pathogenic" "" "0000287408" "0" "10" "10" "123276825" "123276825" "subst" "0" "01943" "FGFR2_000056" "g.123276825G>A" "" "" "" "FGFR2(NM_000141.4):c.1084+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517311G>A" "" "benign" "" "0000287409" "0" "10" "10" "123325239" "123325240" "del" "0" "01943" "FGFR2_000087" "g.123325239_123325240del" "" "" "" "FGFR2(NM_000141.4):c.110-16_110-15delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121565725_121565726del" "" "benign" "" "0000287410" "0" "10" "10" "123325244" "123325244" "subst" "0.00514939" "01943" "FGFR2_000088" "g.123325244C>T" "" "" "" "FGFR2(NM_000141.4):c.110-26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121565730C>T" "" "benign" "" "0000287411" "0" "10" "10" "123274644" "123274644" "subst" "1.21886E-5" "01943" "FGFR2_000054" "g.123274644C>T" "" "" "" "FGFR2(NM_000141.4):c.1274G>A (p.R425Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121515130C>T" "" "benign" "" "0000287413" "0" "30" "10" "123260370" "123260370" "subst" "2.84451E-5" "01943" "FGFR2_000050" "g.123260370C>T" "" "" "" "FGFR2(NM_000141.4):c.1531G>A (p.A511T), FGFR2(NM_000141.5):c.1531G>A (p.(Ala511Thr), p.A511T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121500856C>T" "" "likely benign" "" "0000287414" "0" "30" "10" "123258109" "123258109" "subst" "0.000723307" "01943" "FGFR2_000049" "g.123258109T>C" "" "" "" "FGFR2(NM_000141.4):c.1572A>G (p.T524=, p.(Thr524=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121498595T>C" "" "likely benign" "" "0000287415" "0" "10" "10" "123256248" "123256248" "subst" "0.00224182" "01943" "FGFR2_000048" "g.123256248G>A" "" "" "" "FGFR2(NM_000141.4):c.1673-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121496734G>A" "" "benign" "" "0000287416" "0" "30" "10" "123256121" "123256121" "subst" "0.000711047" "01943" "FGFR2_000047" "g.123256121C>T" "" "" "" "FGFR2(NM_000141.4):c.1788G>A (p.E596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121496607C>T" "" "likely benign" "" "0000287417" "0" "10" "10" "123353315" "123353315" "subst" "0.00764264" "01943" "FGFR2_000090" "g.123353315C>G" "" "" "" "FGFR2(NM_000141.4):c.17G>C (p.R6P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121593801C>G" "" "benign" "" "0000287418" "0" "90" "10" "123256058" "123256058" "subst" "0" "01943" "FGFR2_000046" "g.123256058C>G" "" "" "" "FGFR2(NM_000141.4):c.1851G>C (p.L617F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121496544C>G" "" "pathogenic" "" "0000287419" "0" "10" "10" "123256021" "123256021" "subst" "0.000463803" "01943" "FGFR2_000045" "g.123256021G>A" "" "" "" "FGFR2(NM_000141.4):c.1863+25C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121496507G>A" "" "benign" "" "0000287421" "0" "10" "10" "123247670" "123247670" "del" "0.131087" "01943" "FGFR2_000043" "g.123247670del" "" "" "" "FGFR2(NM_000141.4):c.1864-43delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121488156del" "" "benign" "" "0000287422" "0" "30" "10" "123247580" "123247580" "subst" "5.28283E-5" "01943" "FGFR2_000041" "g.123247580G>A" "" "" "" "FGFR2(NM_000141.4):c.1911C>T (p.N637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121488066G>A" "" "likely benign" "" "0000287423" "0" "90" "10" "123247569" "123247569" "subst" "0" "01943" "FGFR2_000040" "g.123247569T>C" "" "" "" "FGFR2(NM_000141.4):c.1922A>G (p.K641R), FGFR2(NM_022970.3):c.1925A>G (p.K642R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121488055T>C" "" "pathogenic" "" "0000287424" "0" "10" "10" "123247550" "123247550" "subst" "0.00585874" "01943" "FGFR2_000039" "g.123247550G>A" "" "" "" "FGFR2(NM_000141.4):c.1941C>T (p.L647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121488036G>A" "" "benign" "" "0000287425" "0" "90" "10" "123247514" "123247514" "subst" "0" "01943" "FGFR2_000038" "g.123247514C>A" "" "" "" "FGFR2(NM_000141.4):c.1977G>T (p.K659N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121488000C>A" "" "pathogenic" "" "0000287426" "0" "90" "10" "123246934" "123246934" "subst" "0" "01943" "FGFR2_000037" "g.123246934C>T" "" "" "" "FGFR2(NM_000141.4):c.1991G>A (p.R664Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121487420C>T" "" "pathogenic" "" "0000287427" "0" "30" "10" "123244914" "123244914" "subst" "0.000259951" "01943" "FGFR2_000036" "g.123244914G>A" "" "" "" "FGFR2(NM_000141.4):c.2190C>T (p.N730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121485400G>A" "" "likely benign" "" "0000287428" "0" "10" "10" "123243197" "123243197" "subst" "0.561987" "01943" "FGFR2_000035" "g.123243197G>A" "" "" "" "FGFR2(NM_000141.4):c.2301+15C>T, FGFR2(NM_022970.3):c.2304+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121483683G>A" "" "benign" "" "0000287429" "0" "30" "10" "123239527" "123239527" "subst" "0" "01943" "FGFR2_000034" "g.123239527C>T" "" "" "" "FGFR2(NM_000141.4):c.2310G>A (p.L770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121480013C>T" "" "likely benign" "" "0000287430" "0" "30" "10" "123239430" "123239430" "subst" "4.0626E-6" "01943" "FGFR2_000033" "g.123239430T>C" "" "" "" "FGFR2(NM_000141.4):c.2407A>G (p.M803V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121479916T>C" "" "likely benign" "" "0000287431" "0" "10" "10" "123325034" "123325034" "subst" "0.00814273" "01943" "FGFR2_000085" "g.123325034C>T" "" "" "" "FGFR2(NM_000141.4):c.294G>A (p.T98=), FGFR2(NM_000141.5):c.294G>A (p.(Thr98=)), FGFR2(NM_022970.3):c.294G>A (p.T98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121565520C>T" "" "benign" "" "0000287432" "0" "30" "10" "123325018" "123325018" "subst" "4.0624E-6" "01943" "FGFR2_000084" "g.123325018G>A" "" "" "" "FGFR2(NM_000141.4):c.310C>T (p.L104F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121565504G>A" "" "likely benign" "" "0000287433" "0" "90" "10" "123325014" "123325014" "subst" "4.06293E-6" "01943" "FGFR2_000083" "g.123325014T>C" "" "" "" "FGFR2(NM_000141.4):c.314A>G (p.Y105C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121565500T>C" "" "pathogenic" "" "0000287434" "0" "10" "10" "123324122" "123324122" "subst" "1.62799E-5" "01943" "FGFR2_000082" "g.123324122T>C" "" "" "" "FGFR2(NM_000141.4):c.377-29A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121564608T>C" "" "benign" "" "0000287435" "0" "10" "10" "123324002" "123324002" "subst" "0.000516" "01943" "FGFR2_000081" "g.123324002G>A" "" "" "" "FGFR2(NM_000141.4):c.454+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121564488G>A" "" "benign" "" "0000287437" "0" "90" "10" "123279677" "123279677" "subst" "4.0861E-6" "01943" "FGFR2_000001" "g.123279677G>C" "" "" "" "FGFR2(NM_000141.4):c.755C>G (p.S252W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520163G>C" "" "pathogenic" "" "0000287438" "0" "90" "10" "123279677" "123279677" "subst" "5.72054E-5" "01943" "FGFR2_000077" "g.123279677G>A" "" "" "" "FGFR2(NM_000141.4):c.755C>T (p.S252L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520163G>A" "" "pathogenic" "" "0000287439" "0" "90" "10" "123279674" "123279674" "subst" "0" "01943" "FGFR2_000002" "g.123279674G>C" "" "" "" "FGFR2(NM_000141.4):c.758C>G (p.P253R, p.(Pro253Arg)), FGFR2(NM_022970.3):c.758C>G (p.P253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520160G>C" "" "pathogenic" "" "0000287440" "0" "90" "10" "123279620" "123279620" "subst" "0" "01943" "FGFR2_000075" "g.123279620C>A" "" "" "" "FGFR2(NM_000141.4):c.812G>T (p.G271V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520106C>A" "" "pathogenic" "" "0000287441" "0" "90" "10" "123279599" "123279599" "subst" "4.06138E-6" "01943" "FGFR2_000004" "g.123279599C>A" "" "" "" "FGFR2(NM_000141.4):c.833G>T (p.C278F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520085C>A" "" "pathogenic" "" "0000287442" "0" "90" "10" "123279566" "123279566" "subst" "0" "01943" "FGFR2_000074" "g.123279566T>G" "" "" "" "FGFR2(NM_000141.4):c.866A>C (p.Q289P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520052T>G" "" "pathogenic" "" "0000287443" "0" "90" "10" "123279562" "123279562" "subst" "0" "01943" "FGFR2_000007" "g.123279562C>G" "" "" "" "FGFR2(NM_000141.4):c.870G>C (p.W290C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520048C>G" "" "pathogenic" "" "0000287444" "0" "10" "10" "123279549" "123279549" "subst" "0" "01943" "FGFR2_000073" "g.123279549C>G" "" "" "" "FGFR2(NM_000141.4):c.883G>C (p.E295Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520035C>G" "" "benign" "" "0000287445" "0" "50" "10" "123279521" "123279521" "subst" "0" "01943" "FGFR2_000071" "g.123279521T>C" "" "" "" "FGFR2(NM_000141.4):c.911A>G (p.D304G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520007T>C" "" "VUS" "" "0000287446" "0" "90" "10" "123276979" "123276979" "subst" "0" "01943" "FGFR2_000009" "g.123276979T>C" "" "" "" "FGFR2(NM_000141.4):c.940-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517465T>C" "" "pathogenic" "" "0000287447" "0" "30" "10" "123276981" "123276981" "subst" "4.06204E-5" "01943" "FGFR2_000070" "g.123276981G>C" "" "" "" "FGFR2(NM_000141.4):c.940-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517467G>C" "" "likely benign" "" "0000287448" "0" "90" "10" "123276974" "123276974" "subst" "0" "01943" "FGFR2_000069" "g.123276974C>A" "" "" "" "FGFR2(NM_000141.4):c.943G>T (p.A315S), FGFR2(NM_000141.5):c.943G>T (p.A315S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121517460C>A" "" "pathogenic" "" "0000321786" "0" "30" "10" "123239427" "123239427" "subst" "1.62517E-5" "01804" "FGFR2_000032" "g.123239427G>C" "" "" "" "FGFR2(NM_000141.4):c.2410C>G (p.(Pro804Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121479913G>C" "" "likely benign" "" "0000321787" "0" "50" "10" "123279540" "123279540" "subst" "1.62431E-5" "01804" "FGFR2_000072" "g.123279540C>T" "" "" "" "FGFR2(NM_000141.4):c.892G>A (p.(Gly298Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520026C>T" "" "VUS" "" "0000342927" "0" "30" "10" "123263395" "123263395" "subst" "3.25005E-5" "02327" "FGFR2_000052" "g.123263395G>A" "" "" "" "FGFR2(NM_000141.4):c.1348C>T (p.R450C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121503881G>A" "" "likely benign" "" "0000348010" "0" "90" "10" "123279606" "123279606" "subst" "0" "02327" "FGFR2_000003" "g.123279606A>C" "" "" "" "FGFR2(NM_000141.4):c.826T>G (p.F276V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121520092A>C" "" "pathogenic" "" "0000405880" "0" "90" "10" "123279677" "123279677" "subst" "4.0861E-6" "02575" "FGFR2_000001" "g.123279677G>C" "" "" "" "" "" "De novo" "" "rs79184941" "0" "" "" "g.121520163G>C" "" "pathogenic (dominant)" "" "0000474985" "1" "50" "10" "123260393" "123260393" "subst" "0" "00006" "FGFR2_000093" "g.123260393A>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XX" "g.121500879A>G" "" "VUS" "" "0000474986" "1" "50" "10" "123260393" "123260393" "subst" "0" "00006" "FGFR2_000093" "g.123260393A>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.121500879A>G" "" "VUS" "" "0000539382" "0" "30" "10" "123237966" "123237966" "subst" "0" "02327" "FGFR2_000094" "g.123237966C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121478452C>T" "" "likely benign" "" "0000539384" "0" "50" "10" "123239175" "123239175" "del" "0" "01943" "FGFR2_000096" "g.123239175del" "" "" "" "FGFR2(NM_001144915.1):c.2045delA (p.K682Rfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121479661del" "" "VUS" "" "0000539385" "0" "50" "10" "123241798" "123241799" "delins" "0" "02327" "FGFR2_000097" "g.123241798_123241799delinsAA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121482284_121482285delinsAA" "" "VUS" "" "0000539386" "0" "10" "10" "123243197" "123243197" "subst" "0.561987" "02327" "FGFR2_000035" "g.123243197G>A" "" "" "" "FGFR2(NM_000141.4):c.2301+15C>T, FGFR2(NM_022970.3):c.2304+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121483683G>A" "" "benign" "" "0000539387" "0" "30" "10" "123245077" "123245077" "subst" "0.0149495" "02327" "FGFR2_000098" "g.123245077T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121485563T>C" "" "likely benign" "" "0000539388" "0" "30" "10" "123246738" "123246759" "del" "0" "02327" "FGFR2_000099" "g.123246738_123246759del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121487224_121487245del" "" "likely benign" "" "0000539389" "0" "10" "10" "123247037" "123247037" "subst" "0" "02327" "FGFR2_000100" "g.123247037C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121487523C>T" "" "benign" "" "0000539390" "0" "10" "10" "123247044" "123247044" "subst" "0" "02327" "FGFR2_000101" "g.123247044T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121487530T>C" "" "benign" "" "0000539391" "0" "10" "10" "123247644" "123247644" "subst" "0.0190675" "02327" "FGFR2_000042" "g.123247644A>C" "" "" "" "FGFR2(NM_000141.4):c.1864-17T>G, FGFR2(NM_022970.3):c.1867-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121488130A>C" "" "benign" "" "0000539392" "0" "10" "10" "123247670" "123247670" "del" "0.131087" "02327" "FGFR2_000043" "g.123247670del" "" "" "" "FGFR2(NM_000141.4):c.1864-43delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121488156del" "" "benign" "" "0000539394" "0" "10" "10" "123247749" "123247750" "ins" "0" "02327" "FGFR2_000103" "g.123247749_123247750insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121488235_121488236insT" "" "benign" "" "0000539395" "0" "10" "10" "123247752" "123247752" "dup" "0" "01943" "FGFR2_000104" "g.123247752dup" "" "" "" "FGFR2(NM_000141.4):c.1864-125dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121488238dup" "" "benign" "" "0000539397" "0" "30" "10" "123256114" "123256114" "subst" "0" "01804" "FGFR2_000106" "g.123256114T>A" "" "" "" "FGFR2(NM_000141.4):c.1795A>T (p.(Thr599Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121496600T>A" "" "likely benign" "" "0000539398" "0" "90" "10" "123256215" "123256215" "subst" "0" "01943" "FGFR2_000107" "g.123256215T>C" "" "" "" "FGFR2(NM_000141.4):c.1694A>G (p.E565G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121496701T>C" "" "pathogenic" "" "0000539399" "0" "90" "10" "123256215" "123256215" "subst" "0" "02327" "FGFR2_000108" "g.123256215T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121496701T>G" "" "pathogenic" "" "0000539400" "0" "30" "10" "123260112" "123260112" "subst" "0" "02327" "FGFR2_000109" "g.123260112T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121500598T>A" "" "likely benign" "" "0000539401" "0" "50" "10" "123260375" "123260375" "subst" "4.06339E-6" "02327" "FGFR2_000110" "g.123260375T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121500861T>C" "" "VUS" "" "0000539402" "0" "50" "10" "123260408" "123260408" "subst" "0" "02327" "FGFR2_000111" "g.123260408G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121500894G>A" "" "VUS" "" "0000539403" "0" "50" "10" "123260445" "123260445" "subst" "0" "02327" "FGFR2_000112" "g.123260445G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121500931G>C" "" "VUS" "" "0000539405" "0" "30" "10" "123263478" "123263478" "subst" "0.020528" "02327" "FGFR2_000114" "g.123263478C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121503964C>G" "" "likely benign" "" "0000539406" "0" "30" "10" "123263486" "123263486" "subst" "0.000820681" "02327" "FGFR2_000115" "g.123263486A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121503972A>C" "" "likely benign" "" "0000539408" "0" "50" "10" "123274815" "123274815" "subst" "4.06223E-6" "01943" "FGFR2_000117" "g.123274815T>A" "" "" "" "FGFR2(NM_000141.4):c.1103A>T (p.E368V), FGFR2(NM_022970.3):c.1106A>T (p.E369V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121515301T>A" "" "VUS" "" "0000539410" "0" "30" "10" "123276825" "123276825" "subst" "0" "01804" "FGFR2_000056" "g.123276825G>A" "" "" "" "FGFR2(NM_000141.4):c.1084+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121517311G>A" "" "likely benign" "" "0000539411" "0" "90" "10" "123276833" "123276833" "subst" "0" "01943" "FGFR2_000118" "g.123276833C>T" "" "" "" "FGFR2(NM_000141.4):c.1084G>A (p.A362T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121517319C>T" "" "pathogenic" "" "0000539412" "0" "90" "10" "123276865" "123276865" "subst" "0" "02327" "FGFR2_000020" "g.123276865G>C" "" "" "" "FGFR2(NM_000141.4):c.1052C>G (p.S351C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121517351G>C" "" "pathogenic" "" "0000539413" "0" "90" "10" "123276892" "123276892" "subst" "0" "02327" "FGFR2_000012" "g.123276892C>T" "" "" "" "FGFR2(NM_000141.4):c.1025G>A (p.C342Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121517378C>T" "" "pathogenic" "" "0000539414" "0" "90" "10" "123276893" "123276893" "subst" "0" "02327" "FGFR2_000017" "g.123276893A>G" "" "" "" "FGFR2(NM_000141.4):c.1024T>C (p.C342R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121517379A>G" "" "pathogenic" "" "0000539415" "0" "90" "10" "123276898" "123276898" "subst" "0" "02327" "FGFR2_000016" "g.123276898T>C" "" "" "" "FGFR2(NM_000141.4):c.1019A>G (p.Y340C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121517384T>C" "" "pathogenic" "" "0000539416" "0" "90" "10" "123276899" "123276899" "subst" "0" "02327" "FGFR2_000065" "g.123276899A>G" "" "" "" "FGFR2(NM_000141.4):c.1018T>C (p.Y340H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121517385A>G" "" "pathogenic" "" "0000539417" "0" "90" "10" "123279562" "123279562" "subst" "0" "02327" "FGFR2_000120" "g.123279562C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121520048C>A" "" "pathogenic" "" "0000539418" "0" "90" "10" "123279564" "123279564" "subst" "0" "02327" "FGFR2_000091" "g.123279564A>G" "" "" "" "FGFR2(NM_000141.4):c.868T>C (p.W290R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121520050A>G" "" "pathogenic" "" "0000539419" "0" "30" "10" "123279629" "123279629" "subst" "0" "01943" "FGFR2_000121" "g.123279629G>A" "" "" "" "FGFR2(NM_000141.4):c.803C>T (p.T268I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121520115G>A" "" "likely benign" "" "0000539420" "0" "90" "10" "123279674" "123279674" "subst" "0" "02327" "FGFR2_000002" "g.123279674G>C" "" "" "" "FGFR2(NM_000141.4):c.758C>G (p.P253R, p.(Pro253Arg)), FGFR2(NM_022970.3):c.758C>G (p.P253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121520160G>C" "" "pathogenic" "" "0000539421" "0" "90" "10" "123279677" "123279677" "subst" "4.0861E-6" "02327" "FGFR2_000001" "g.123279677G>C" "" "" "" "FGFR2(NM_000141.4):c.755C>G (p.S252W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121520163G>C" "" "pathogenic" "" "0000539422" "0" "10" "10" "123279710" "123279710" "subst" "0.0015072" "01943" "FGFR2_000122" "g.123279710A>G" "" "" "" "FGFR2(NM_000141.4):c.749-27T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121520196A>G" "" "benign" "" "0000539423" "0" "10" "10" "123279795" "123279795" "subst" "0" "02327" "FGFR2_000123" "g.123279795C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121520281C>T" "" "benign" "" "0000539424" "0" "10" "10" "123298158" "123298158" "subst" "0.781323" "02327" "FGFR2_000078" "g.123298158T>C" "" "" "" "FGFR2(NM_022970.3):c.696A>G (p.V232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121538644T>C" "" "benign" "" "0000539426" "0" "30" "10" "123310871" "123310871" "subst" "0.0445922" "02327" "FGFR2_000080" "g.123310871A>G" "" "" "" "FGFR2(NM_000141.4):c.557T>C (p.M186T), FGFR2(NM_022970.3):c.557T>C (p.M186T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121551357A>G" "" "likely benign" "" "0000539427" "0" "30" "10" "123310979" "123310979" "subst" "0" "01804" "FGFR2_000124" "g.123310979T>A" "" "" "" "FGFR2(NM_000141.4):c.455-6A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121551465T>A" "" "likely benign" "" "0000539428" "0" "90" "10" "123325014" "123325014" "subst" "4.06293E-6" "02327" "FGFR2_000083" "g.123325014T>C" "" "" "" "FGFR2(NM_000141.4):c.314A>G (p.Y105C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121565500T>C" "" "pathogenic" "" "0000539429" "0" "30" "10" "123325034" "123325034" "subst" "0.00814273" "02327" "FGFR2_000085" "g.123325034C>T" "" "" "" "FGFR2(NM_000141.4):c.294G>A (p.T98=), FGFR2(NM_000141.5):c.294G>A (p.(Thr98=)), FGFR2(NM_022970.3):c.294G>A (p.T98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121565520C>T" "" "likely benign" "" "0000539430" "0" "30" "10" "123325158" "123325158" "subst" "0.00487294" "01804" "FGFR2_000086" "g.123325158G>A" "" "" "" "FGFR2(NM_000141.4):c.170C>T (p.(Ser57Leu), p.S57L), FGFR2(NM_022970.3):c.170C>T (p.S57L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121565644G>A" "" "likely benign" "" "0000539431" "0" "30" "10" "123325184" "123325184" "subst" "0" "01943" "FGFR2_000125" "g.123325184T>G" "" "" "" "FGFR2(NM_022970.3):c.144A>C (p.E48D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121565670T>G" "" "likely benign" "" "0000539432" "0" "10" "10" "123353213" "123353213" "subst" "0.00273709" "01943" "FGFR2_000126" "g.123353213A>C" "" "" "" "FGFR2(NM_022970.3):c.109+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121593699A>C" "" "benign" "" "0000539433" "0" "30" "10" "123353213" "123353213" "subst" "0.00273709" "02327" "FGFR2_000126" "g.123353213A>C" "" "" "" "FGFR2(NM_022970.3):c.109+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121593699A>C" "" "likely benign" "" "0000539434" "0" "30" "10" "123353405" "123353405" "subst" "0.00358346" "02327" "FGFR2_000127" "g.123353405C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121593891C>T" "" "likely benign" "" "0000577981" "0" "90" "10" "123279677" "123279677" "subst" "4.0861E-6" "01164" "FGFR2_000001" "g.123279677G>C" "" "" "" "" "ACMG grading: PM2,PS2,PP1,PS3; reported in Wilkie 1995. Nat Genet 9: 165; Anderson 1998. Hum Mol Genet 7: 1475; Slaney 1996. Am J Hum Genet 58: 923" "Germline" "" "rs79184941" "0" "" "" "g.121520163G>C" "" "pathogenic" "ACMG" "0000612346" "0" "30" "10" "123247713" "123247713" "dup" "0" "02327" "FGFR2_000128" "g.123247713dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121488199dup" "" "likely benign" "" "0000612347" "0" "10" "10" "123247752" "123247752" "dup" "0" "02327" "FGFR2_000104" "g.123247752dup" "" "" "" "FGFR2(NM_000141.4):c.1864-125dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121488238dup" "" "benign" "" "0000612348" "0" "50" "10" "123256134" "123256134" "subst" "4.06322E-6" "02325" "FGFR2_000129" "g.123256134C>T" "" "" "" "FGFR2(NM_000141.5):c.1775G>A (p.R592H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121496620C>T" "" "VUS" "" "0000612349" "0" "50" "10" "123279674" "123279674" "subst" "0" "01943" "FGFR2_000130" "g.123279674G>A" "" "" "" "FGFR2(NM_000141.4):c.758C>T (p.P253L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121520160G>A" "" "VUS" "" "0000612350" "0" "50" "10" "123310807" "123310807" "subst" "0" "02325" "FGFR2_000131" "g.123310807G>C" "" "" "" "FGFR2(NM_022970.3):c.621C>G (p.Y207*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121551293G>C" "" "VUS" "" "0000612351" "0" "30" "10" "123325169" "123325169" "subst" "0.00335854" "01943" "FGFR2_000132" "g.123325169C>T" "" "" "" "FGFR2(NM_000141.4):c.159G>A (p.A53=), FGFR2(NM_000141.5):c.159G>A (p.(Ala53=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121565655C>T" "" "likely benign" "" "0000656439" "0" "30" "10" "123278339" "123278339" "subst" "4.06379E-6" "01943" "FGFR2_000133" "g.123278339G>A" "" "" "" "FGFR2(NM_022970.3):c.944C>T (p.S315L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121518825G>A" "" "likely benign" "" "0000656440" "0" "90" "10" "123279677" "123279677" "subst" "4.0861E-6" "01804" "FGFR2_000001" "g.123279677G>C" "" "" "" "FGFR2(NM_000141.4):c.755C>G (p.S252W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121520163G>C" "" "pathogenic" "" "0000656441" "0" "50" "10" "123325147" "123325147" "subst" "0" "01943" "FGFR2_000134" "g.123325147G>A" "" "" "" "FGFR2(NM_000141.4):c.181C>T (p.R61C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121565633G>A" "" "VUS" "" "0000667514" "0" "90" "10" "123274777" "123274777" "subst" "0" "00006" "FGFR2_000116" "g.123274777A>C" "" "{PMID:Helbig 2016:26795593}" "" "" "likely de novo" "Germline/De novo (untested)" "" "" "0" "" "" "g.121515263A>C" "" "pathogenic (dominant)" "ACMG" "0000678794" "0" "50" "10" "123353231" "123353231" "subst" "0" "01943" "FGFR2_000135" "g.123353231T>A" "" "" "" "FGFR2(NM_022970.3):c.101A>T (p.E34V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678795" "0" "50" "10" "123353231" "123353231" "subst" "0" "02325" "FGFR2_000135" "g.123353231T>A" "" "" "" "FGFR2(NM_022970.3):c.101A>T (p.E34V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690655" "0" "30" "10" "123263382" "123263382" "subst" "6.09484E-5" "01804" "FGFR2_000136" "g.123263382G>A" "" "" "" "FGFR2(NM_000141.4):c.1361C>T (p.(Thr454Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690656" "0" "30" "10" "123310888" "123310888" "subst" "0" "01943" "FGFR2_000137" "g.123310888T>G" "" "" "" "FGFR2(NM_022970.3):c.540A>C (p.P180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690657" "0" "30" "10" "123324013" "123324013" "subst" "1.62464E-5" "01943" "FGFR2_000138" "g.123324013T>C" "" "" "" "FGFR2(NM_022970.3):c.454+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722722" "0" "70" "10" "123260424" "123260424" "subst" "0" "02329" "FGFR2_000051" "g.123260424C>G" "" "" "" "FGFR2(NM_022970.3):c.1480G>C (p.G494R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722723" "0" "70" "10" "123274774" "123274774" "subst" "0" "02327" "FGFR2_000139" "g.123274774A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722724" "0" "90" "10" "123274794" "123274794" "subst" "0" "02327" "FGFR2_000013" "g.123274794T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722725" "0" "50" "10" "123325129" "123325129" "subst" "0" "02325" "FGFR2_000140" "g.123325129C>T" "" "" "" "FGFR2(NM_000141.5):c.199G>A (p.A67T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722726" "0" "30" "10" "123353289" "123353289" "subst" "0" "01804" "FGFR2_000141" "g.123353289T>C" "" "" "" "FGFR2(NM_000141.4):c.43A>G (p.(Met15Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729939" "0" "90" "10" "123279562" "123279562" "subst" "0" "00000" "FGFR2_000007" "g.123279562C>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000141.4:c.870G>C:p.(Trp290Cys)" "" "De novo" "" "" "0" "" "" "g.121520048C>G" "" "pathogenic (dominant)" "" "0000731592" "1" "90" "10" "123247542" "123247544" "del" "0" "00006" "FGFR2_000142" "g.123247542_123247544del" "" "{PMID:Rohmann 2006:16501574}" "" "del1947-AGA-1949 (delAsp650)" "" "Germline" "" "" "0" "" "" "g.121488028_121488030del" "" "pathogenic (dominant)" "" "0000731593" "1" "90" "10" "123247549" "123247549" "subst" "0" "00006" "FGFR2_000143" "g.123247549C>T" "" "{PMID:Rohmann 2006:16501574}" "" "" "" "Germline" "" "" "0" "" "" "g.121488035C>T" "" "pathogenic (dominant)" "" "0000731594" "1" "90" "10" "123247549" "123247549" "subst" "0" "00006" "FGFR2_000143" "g.123247549C>T" "" "{PMID:Rohmann 2006:16501574}" "" "" "" "Germline" "" "" "0" "" "" "g.121488035C>T" "" "pathogenic (dominant)" "" "0000731595" "0" "90" "10" "123247609" "123247609" "subst" "0" "00006" "FGFR2_000144" "g.123247609C>T" "" "{PMID:Rohmann 2006:16501574}" "" "" "" "De novo" "" "" "0" "" "" "g.121488095C>T" "" "pathogenic (dominant)" "" "0000735325" "0" "90" "10" "123279674" "123279674" "subst" "0" "03789" "FGFR2_000002" "g.123279674G>C" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000735327" "0" "90" "10" "123279674" "123279674" "subst" "0" "03789" "FGFR2_000002" "g.123279674G>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000735332" "0" "90" "10" "123279677" "123279677" "subst" "4.0861E-6" "03789" "FGFR2_000001" "g.123279677G>C" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000735549" "11" "90" "10" "123324994" "123324994" "subst" "0" "03789" "FGFR2_000145" "g.123324994T>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000735550" "0" "90" "10" "123276847" "123276847" "subst" "0" "03789" "FGFR2_000025" "g.123276847A>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000759741" "0" "90" "10" "123276892" "123276892" "subst" "0" "01164" "FGFR2_000012" "g.123276892C>T" "" "PMID: 7987400, 24127277, 25271085, 8650126, 22558232, 8755573, 20133659, 15316116, 24127277, 25271085" "" "" "ACMG: Class 5 (PS1, PS3, PS4, PM1, PM2_SUP, PP1)" "Germline" "yes" "" "" "" "" "" "{CV:0000132630}" "pathogenic (dominant)" "ACMG" "0000786645" "0" "70" "10" "123276865" "123276865" "subst" "0" "00006" "FGFR2_000020" "g.123276865G>C" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.121517351G>C" "" "likely pathogenic" "" "0000804328" "0" "90" "10" "123276974" "123276974" "subst" "0" "02327" "FGFR2_000069" "g.123276974C>A" "" "" "" "FGFR2(NM_000141.4):c.943G>T (p.A315S), FGFR2(NM_000141.5):c.943G>T (p.A315S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804329" "0" "30" "10" "123276975" "123276975" "subst" "0.000101553" "01943" "FGFR2_000146" "g.123276975G>A" "" "" "" "FGFR2(NM_000141.4):c.942C>T (p.A314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804330" "0" "30" "10" "123278290" "123278290" "subst" "0.00030873" "01943" "FGFR2_000147" "g.123278290G>A" "" "" "" "FGFR2(NM_022970.3):c.993C>T (p.T331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000839639" "11" "70" "10" "123298225" "123298225" "subst" "0" "04221" "FGFR2_000148" "g.123298225C>T" "" "{PMID:Reyna-Fabian 2024:38909058}" "" "" "ACMG PP1, PM1, PM2, PP3, PP5; variant not previously reported in public databases nor literature" "Germline" "yes" "" "0" "" "" "g.121538711C>T" "" "likely pathogenic (dominant)" "ACMG" "0000852429" "0" "90" "10" "123276892" "123276892" "subst" "0" "02327" "FGFR2_000062" "g.123276892C>G" "" "" "" "FGFR2(NM_000141.4):c.1025G>C (p.C342S), FGFR2(NM_000141.5):c.1025G>C (p.C342S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861845" "0" "90" "10" "123279674" "123279674" "subst" "0" "01804" "FGFR2_000002" "g.123279674G>C" "" "" "" "FGFR2(NM_000141.4):c.758C>G (p.P253R, p.(Pro253Arg)), FGFR2(NM_022970.3):c.758C>G (p.P253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861846" "0" "30" "10" "123279676" "123279676" "subst" "4.49101E-5" "01943" "FGFR2_000149" "g.123279676C>T" "" "" "" "FGFR2(NM_022970.3):c.756G>A (p.S252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889050" "0" "30" "10" "123243266" "123243266" "subst" "4.06537E-6" "02325" "FGFR2_000150" "g.123243266C>T" "" "" "" "FGFR2(NM_000141.5):c.2247G>A (p.T749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889051" "0" "30" "10" "123260370" "123260370" "subst" "2.84451E-5" "02325" "FGFR2_000050" "g.123260370C>T" "" "" "" "FGFR2(NM_000141.4):c.1531G>A (p.A511T), FGFR2(NM_000141.5):c.1531G>A (p.(Ala511Thr), p.A511T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889052" "0" "90" "10" "123276979" "123276979" "subst" "0" "02327" "FGFR2_000009" "g.123276979T>C" "" "" "" "FGFR2(NM_000141.4):c.940-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889053" "0" "90" "10" "123279599" "123279599" "subst" "4.06138E-6" "02329" "FGFR2_000151" "g.123279599C>T" "" "" "" "FGFR2(NM_022970.3):c.833G>A (p.C278Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000905532" "0" "50" "10" "123325035" "123325035" "subst" "2.84262E-5" "00000" "FGFR2_000152" "g.123325035G>A" "1/103 cases" "{PMID:Peng 2016:27527345}" "" "FGFR2 c.293C>T, p.T98M" "risk factor" "Unknown" "?" "" "0" "" "" "g.121565521G>A" "" "association" "" "0000913241" "0" "50" "10" "123239412" "123239412" "subst" "0" "02327" "FGFR2_000153" "g.123239412G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913242" "0" "90" "10" "123247549" "123247549" "subst" "0" "02327" "FGFR2_000143" "g.123247549C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913243" "0" "70" "10" "123247569" "123247569" "subst" "0" "02329" "FGFR2_000040" "g.123247569T>C" "" "" "" "FGFR2(NM_000141.4):c.1922A>G (p.K641R), FGFR2(NM_022970.3):c.1925A>G (p.K642R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913244" "0" "90" "10" "123279674" "123279674" "subst" "0" "02326" "FGFR2_000002" "g.123279674G>C" "" "" "" "FGFR2(NM_000141.4):c.758C>G (p.P253R, p.(Pro253Arg)), FGFR2(NM_022970.3):c.758C>G (p.P253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925127" "0" "30" "10" "123274836" "123274836" "subst" "2.84444E-5" "02325" "FGFR2_000055" "g.123274836A>G" "" "" "" "FGFR2(NM_000141.4):c.1085-3T>C, FGFR2(NM_000141.5):c.1085-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929650" "0" "50" "10" "123274815" "123274815" "subst" "4.06223E-6" "02330" "FGFR2_000117" "g.123274815T>A" "" "" "" "FGFR2(NM_000141.4):c.1103A>T (p.E368V), FGFR2(NM_022970.3):c.1106A>T (p.E369V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000939846" "1" "90" "10" "123247549" "123247549" "subst" "0" "00006" "FGFR2_000143" "g.123247549C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.121488035C>T" "" "pathogenic (dominant)" "" "0000949356" "0" "50" "10" "123239388" "123239388" "subst" "2.84659E-5" "01804" "FGFR2_000154" "g.123239388C>T" "" "" "" "FGFR2(NM_000141.4):c.2449G>A (p.(Gly817Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949357" "0" "90" "10" "123276892" "123276892" "subst" "0" "02325" "FGFR2_000062" "g.123276892C>G" "" "" "" "FGFR2(NM_000141.4):c.1025G>C (p.C342S), FGFR2(NM_000141.5):c.1025G>C (p.C342S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949358" "0" "70" "10" "123310807" "123310807" "subst" "0" "02327" "FGFR2_000131" "g.123310807G>C" "" "" "" "FGFR2(NM_022970.3):c.621C>G (p.Y207*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949359" "0" "50" "10" "123310859" "123310859" "subst" "2.8428E-5" "01804" "FGFR2_000155" "g.123310859C>T" "" "" "" "FGFR2(NM_000141.4):c.569G>A (p.(Arg190Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954969" "1" "50" "10" "123325014" "123325014" "subst" "4.06293E-6" "00006" "FGFR2_000083" "g.123325014T>C" "" "{PMID:Kessel 2021:34169787}" "" "" "VUS PS4mod, PM2, PP3" "Germline" "" "" "0" "" "" "g.121565500T>C" "VCV000449024.4" "VUS" "" "0000965626" "0" "30" "10" "123258109" "123258109" "subst" "0.000723307" "01804" "FGFR2_000049" "g.123258109T>C" "" "" "" "FGFR2(NM_000141.4):c.1572A>G (p.T524=, p.(Thr524=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965628" "0" "70" "10" "123274734" "123274734" "subst" "0" "02327" "FGFR2_000156" "g.123274734A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000965629" "0" "50" "10" "123276974" "123276974" "subst" "0" "02325" "FGFR2_000069" "g.123276974C>A" "" "" "" "FGFR2(NM_000141.4):c.943G>T (p.A315S), FGFR2(NM_000141.5):c.943G>T (p.A315S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978927" "0" "50" "10" "123256069" "123256069" "subst" "4.06339E-6" "01804" "FGFR2_000157" "g.123256069T>C" "" "" "" "FGFR2(NM_000141.5):c.1840A>G (p.(Met614Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978928" "0" "50" "10" "123274680" "123274680" "subst" "1.62451E-5" "01804" "FGFR2_000158" "g.123274680G>A" "" "" "" "FGFR2(NM_000141.4):c.1238C>T (p.(Pro413Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978929" "0" "50" "10" "123285699" "123285699" "subst" "0" "02327" "FGFR2_000159" "g.123285699C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987751" "0" "90" "10" "123279509" "123279509" "subst" "0" "04221" "FGFR2_000160" "g.123279509T>C" "" "{PMID:Lajeunie 2006:16418739}" "" "" "" "Germline" "yes" "rs1057519040" "" "" "" "g.123279509T>C" "{CV:374813}" "pathogenic (dominant)" "ACMG" "0000998164" "0" "70" "10" "123243316" "123243316" "subst" "0" "01804" "FGFR2_000161" "g.123243316A>C" "" "" "" "FGFR2(NM_000141.4):c.2197T>G (p.(Tyr733Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998165" "0" "50" "10" "123244999" "123244999" "subst" "0" "01804" "FGFR2_000162" "g.123244999G>A" "" "" "" "FGFR2(NM_000141.4):c.2105C>T (p.(Ser702Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998166" "0" "30" "10" "123260371" "123260371" "subst" "0" "01804" "FGFR2_000163" "g.123260371C>G" "" "" "" "FGFR2(NM_000141.4):c.1530G>C (p.(Glu510Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998167" "0" "30" "10" "123260394" "123260394" "subst" "0" "01804" "FGFR2_000164" "g.123260394T>G" "" "" "" "FGFR2(NM_000141.4):c.1507A>C (p.(Ile503Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998168" "0" "30" "10" "123274678" "123274678" "subst" "2.84312E-5" "01804" "FGFR2_000165" "g.123274678C>T" "" "" "" "FGFR2(NM_000141.4):c.1240G>A (p.(Ala414Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998169" "0" "30" "10" "123279673" "123279673" "subst" "0.000346486" "02325" "FGFR2_000076" "g.123279673A>C" "" "" "" "FGFR2(NM_000141.4):c.759T>G (p.P253=), FGFR2(NM_000141.5):c.759T>G (p.(Pro253=), p.P253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998170" "0" "90" "10" "123279674" "123279674" "subst" "0" "02329" "FGFR2_000002" "g.123279674G>C" "" "" "" "FGFR2(NM_000141.4):c.758C>G (p.P253R, p.(Pro253Arg)), FGFR2(NM_022970.3):c.758C>G (p.P253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998171" "0" "30" "10" "123310884" "123310884" "subst" "8.12176E-6" "01804" "FGFR2_000166" "g.123310884C>T" "" "" "" "FGFR2(NM_000141.4):c.544G>A (p.(Gly182Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014599" "0" "10" "10" "123239112" "123239112" "subst" "0.555866" "02330" "FGFR2_000030" "g.123239112G>A" "" "" "" "FGFR2(NM_000141.4):c.*259C>T, FGFR2(NM_001144915.2):c.2107C>T (p.L703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014600" "0" "10" "10" "123243197" "123243197" "subst" "0.561987" "02330" "FGFR2_000035" "g.123243197G>A" "" "" "" "FGFR2(NM_000141.4):c.2301+15C>T, FGFR2(NM_022970.3):c.2304+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014601" "0" "10" "10" "123247644" "123247644" "subst" "0.0190675" "02330" "FGFR2_000042" "g.123247644A>C" "" "" "" "FGFR2(NM_000141.4):c.1864-17T>G, FGFR2(NM_022970.3):c.1867-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014602" "0" "10" "10" "123298158" "123298158" "subst" "0.781323" "02330" "FGFR2_000078" "g.123298158T>C" "" "" "" "FGFR2(NM_022970.3):c.696A>G (p.V232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014603" "0" "10" "10" "123310871" "123310871" "subst" "0.0445922" "02330" "FGFR2_000080" "g.123310871A>G" "" "" "" "FGFR2(NM_000141.4):c.557T>C (p.M186T), FGFR2(NM_022970.3):c.557T>C (p.M186T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014604" "0" "10" "10" "123325034" "123325034" "subst" "0.00814273" "02330" "FGFR2_000085" "g.123325034C>T" "" "" "" "FGFR2(NM_000141.4):c.294G>A (p.T98=), FGFR2(NM_000141.5):c.294G>A (p.(Thr98=)), FGFR2(NM_022970.3):c.294G>A (p.T98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014605" "0" "10" "10" "123325158" "123325158" "subst" "0.00487294" "02330" "FGFR2_000086" "g.123325158G>A" "" "" "" "FGFR2(NM_000141.4):c.170C>T (p.(Ser57Leu), p.S57L), FGFR2(NM_022970.3):c.170C>T (p.S57L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025724" "0" "50" "10" "123258069" "123258069" "subst" "0" "02325" "FGFR2_000167" "g.123258069T>A" "" "" "" "FGFR2(NM_000141.5):c.1612A>T (p.M538L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030321" "0" "50" "10" "123324098" "123324098" "subst" "0" "03779" "FGFR2_000168" "g.123324098A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001037759" "0" "30" "10" "123246943" "123246943" "subst" "7.3241E-5" "01804" "FGFR2_000169" "g.123246943A>C" "" "" "" "FGFR2(NM_000141.5):c.1987-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037760" "0" "30" "10" "123260370" "123260370" "subst" "2.84451E-5" "01804" "FGFR2_000050" "g.123260370C>T" "" "" "" "FGFR2(NM_000141.4):c.1531G>A (p.A511T), FGFR2(NM_000141.5):c.1531G>A (p.(Ala511Thr), p.A511T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037761" "0" "50" "10" "123263346" "123263346" "subst" "0" "01804" "FGFR2_000170" "g.123263346T>C" "" "" "" "FGFR2(NM_000141.5):c.1397A>G (p.(Tyr466Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037762" "0" "30" "10" "123274833" "123274833" "subst" "3.65738E-5" "01804" "FGFR2_000171" "g.123274833G>A" "" "" "" "FGFR2(NM_000141.5):c.1085C>T (p.(Ala362Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037763" "0" "50" "10" "123276888" "123276888" "subst" "0" "01804" "FGFR2_000061" "g.123276888C>T" "" "" "" "FGFR2(NM_000141.4):c.1029G>A (p.L343=), FGFR2(NM_000141.5):c.1029G>A (p.(Leu343=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037764" "0" "30" "10" "123285668" "123285668" "subst" "0" "01804" "FGFR2_000172" "g.123285668C>A" "" "" "" "FGFR2(NM_001320654.2):c.64+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037765" "0" "10" "10" "123325034" "123325034" "subst" "0.00814273" "01804" "FGFR2_000085" "g.123325034C>T" "" "" "" "FGFR2(NM_000141.4):c.294G>A (p.T98=), FGFR2(NM_000141.5):c.294G>A (p.(Thr98=)), FGFR2(NM_022970.3):c.294G>A (p.T98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037766" "0" "30" "10" "123325065" "123325065" "subst" "6.09083E-5" "01804" "FGFR2_000173" "g.123325065A>G" "" "" "" "FGFR2(NM_000141.5):c.263T>C (p.(Ile88Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037767" "0" "50" "10" "123325206" "123325206" "subst" "0" "01804" "FGFR2_000174" "g.123325206T>G" "" "" "" "FGFR2(NM_000141.5):c.122A>C (p.(Lys41Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037768" "0" "50" "10" "123353303" "123353303" "subst" "0" "01804" "FGFR2_000175" "g.123353303A>G" "" "" "" "FGFR2(NM_000141.5):c.29T>C (p.(Leu10Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045423" "0" "50" "10" "123274768" "123274768" "subst" "0" "03779" "FGFR2_000176" "g.123274768C>A" "" "" "" "" "" "Unknown" "" "rs1554927408" "0" "" "" "" "" "VUS" "" "0001053721" "0" "30" "10" "123239438" "123239438" "subst" "6.09241E-5" "01804" "FGFR2_000177" "g.123239438G>A" "" "" "" "FGFR2(NM_000141.5):c.2399C>T (p.(Pro800Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053722" "0" "50" "10" "123260368" "123260368" "subst" "1.62565E-5" "01804" "FGFR2_000178" "g.123260368C>T" "" "" "" "FGFR2(NM_000141.5):c.1533G>A (p.(Ala511=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053723" "0" "30" "10" "123276855" "123276855" "subst" "4.06138E-6" "01804" "FGFR2_000179" "g.123276855A>T" "" "" "" "FGFR2(NM_000141.5):c.1062T>A (p.(Ser354=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053724" "0" "50" "10" "123279634" "123279635" "ins" "0" "02327" "FGFR2_000180" "g.123279634_123279635insACAGTG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053725" "0" "30" "10" "123279673" "123279673" "subst" "0.000346486" "01804" "FGFR2_000076" "g.123279673A>C" "" "" "" "FGFR2(NM_000141.4):c.759T>G (p.P253=), FGFR2(NM_000141.5):c.759T>G (p.(Pro253=), p.P253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053726" "0" "50" "10" "123286234" "123286234" "subst" "0" "01804" "FGFR2_000181" "g.123286234C>A" "" "" "" "FGFR2(NM_001320654.2):c.24+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053727" "0" "50" "10" "123286259" "123286259" "subst" "0" "01804" "FGFR2_000182" "g.123286259A>C" "" "" "" "FGFR2(NM_001320654.2):c.8T>G (p.(Leu3*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053728" "0" "10" "10" "123325169" "123325169" "subst" "0.00335854" "01804" "FGFR2_000132" "g.123325169C>T" "" "" "" "FGFR2(NM_000141.4):c.159G>A (p.A53=), FGFR2(NM_000141.5):c.159G>A (p.(Ala53=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001058684" "0" "90" "10" "123276978" "123276978" "subst" "0" "00006" "FGFR2_000010" "g.123276978C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.121517464C>T" "" "pathogenic" "" "0001058685" "0" "70" "10" "123256135" "123256135" "subst" "0.000117833" "00006" "FGFR2_000183" "g.123256135G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.121496621G>A" "" "likely pathogenic" "" ## 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 FGFR2 ## Count = 285 "{{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}}" "0000037968" "00000235" "75" "1070" "0" "1070" "0" "c.1070T>C" "r.(?)" "p.(Leu357Ser)" "8" "0000037969" "00000235" "75" "1084" "2" "1084" "2" "c.1084+2T>C" "r.spl?" "p.?" "8i" "0000037970" "00000235" "70" "865" "0" "873" "0" "c.865_873del" "r.(?)" "p.(Gln289_Ile291del)" "7" "0000037971" "00000235" "75" "979" "0" "979" "0" "c.979C>G" "r.(?)" "p.(Leu327Val)" "8" "0000040205" "00000235" "70" "826" "0" "826" "0" "c.826T>G" "r.(?)" "p.(Phe276Val)" "7" "0000040206" "00000235" "70" "833" "0" "833" "0" "c.833G>T" "r.(?)" "p.(Cys278Phe)" "7" "0000040207" "00000235" "70" "833" "0" "833" "0" "c.833G>T" "r.(?)" "p.(Cys278Phe)" "" "0000040208" "00000235" "70" "833" "0" "833" "0" "c.833G>T" "r.(?)" "p.(Cys278Phe)" "" "0000040209" "00000235" "70" "868" "0" "868" "0" "c.868T>G" "r.(?)" "p.(Trp290Gly)" "7" "0000040210" "00000235" "70" "874" "0" "874" "0" "c.874A>G" "r.(?)" "p.(Lys292Glu)" "7" "0000040211" "00000235" "70" "1007" "0" "1007" "0" "c.1007A>G" "r.(?)" "p.(Asp336Gly)" "8" "0000040212" "00000235" "70" "1024" "0" "1024" "0" "c.1024T>A" "r.(?)" "p.(Cys342Ser)" "8" "0000040213" "00000235" "70" "1024" "0" "1024" "0" "c.1024T>C" "r.(?)" "p.(Cys342Arg)" "8" "0000040214" "00000235" "70" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "8" "0000040215" "00000235" "70" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "" "0000040216" "00000235" "70" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "" "0000040217" "00000235" "70" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "" "0000040218" "00000235" "70" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "" "0000040219" "00000235" "70" "1026" "0" "1026" "0" "c.1026C>G" "r.(?)" "p.(Cys342Trp)" "8" "0000040220" "00000235" "70" "1026" "0" "1026" "0" "c.1026C>G" "r.(?)" "p.(Cys342Trp)" "8" "0000040221" "00000235" "90" "1032" "0" "1032" "0" "c.1032G>A" "r.spl?" "p.(Ala344=)" "8" "0000040223" "00000235" "70" "1009" "0" "1009" "0" "c.1009G>C" "r.(?)" "p.(Ala337Pro)" "8" "0000040224" "00000235" "70" "1040" "0" "1040" "0" "c.1040C>G" "r.(?)" "p.(Ser347Cys)" "8" "0000040225" "00000235" "70" "1052" "0" "1052" "0" "c.1052C>G" "r.(?)" "p.(Ser351Cys)" "8" "0000040226" "00000235" "70" "1061" "0" "1061" "0" "c.1061C>G" "r.(?)" "p.(Ser354Cys)" "8" "0000040229" "00000235" "90" "755" "0" "755" "0" "c.755C>G" "r.(?)" "p.(Ser252Trp)" "7" "0000040230" "00000235" "90" "758" "0" "758" "0" "c.758C>G" "r.(?)" "p.(Pro253Arg)" "7" "0000040231" "00000235" "70" "826" "0" "826" "0" "c.826T>G" "r.(?)" "p.(Phe276Val)" "7" "0000040232" "00000235" "70" "833" "0" "833" "0" "c.833G>T" "r.(?)" "p.(Cys278Phe)" "" "0000040233" "00000235" "70" "870" "0" "870" "0" "c.870G>C" "r.(?)" "p.(Trp290Cys)" "7" "0000040234" "00000235" "90" "940" "-2" "940" "-2" "c.940-2A>G" "r.spl?" "p.?" "7i" "0000040235" "00000235" "90" "940" "-1" "940" "-1" "c.940-1G>A" "r.spl?" "p.?" "7i" "0000040236" "00000235" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "8" "0000040237" "00000235" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "" "0000040238" "00000235" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "" "0000040239" "00000235" "70" "1021" "0" "1021" "0" "c.1021A>C" "r.(?)" "p.(Thr341Pro)" "8" "0000040240" "00000235" "70" "1024" "0" "1024" "0" "c.1024T>G" "r.(?)" "p.(Cys342Gly)" "8" "0000040241" "00000235" "70" "1024" "0" "1024" "0" "c.1024T>G" "r.(?)" "p.(Cys342Gly)" "" "0000040242" "00000235" "70" "1024" "0" "1024" "0" "c.1024T>C" "r.(?)" "p.(Cys342Arg)" "" "0000040253" "00000235" "70" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Tyr375Cys)" "" "0000040254" "00000235" "70" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Tyr375Cys)" "9" "0000040257" "00000235" "70" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "" "0000040258" "00000235" "70" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "" "0000040259" "00000235" "70" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "" "0000040260" "00000235" "70" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "" "0000040261" "00000235" "70" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "" "0000046794" "00000235" "30" "1493" "0" "1493" "0" "c.1493T>C" "r.(?)" "p.(Met498Thr)" "" "0000079401" "00000235" "00" "-8388608" "0" "91026" "0" "c.-12023610_*88560dup" "" "" "" "0000079668" "00000235" "00" "1544" "0" "1544" "0" "c.1544C>T" "r.(?)" "p.(Ala515Val)" "" "0000249926" "00000235" "10" "1864" "-17" "1864" "-17" "c.1864-17T>G" "r.(=)" "p.(=)" "" "0000250696" "00000235" "10" "557" "0" "557" "0" "c.557T>C" "r.(?)" "p.(Met186Thr)" "" "0000253048" "00000235" "10" "557" "0" "557" "0" "c.557T>C" "r.(?)" "p.(Met186Thr)" "" "0000253150" "00000235" "10" "1864" "-17" "1864" "-17" "c.1864-17T>G" "r.(=)" "p.(=)" "" "0000253458" "00000235" "10" "759" "0" "759" "0" "c.759T>G" "r.(?)" "p.(Pro253=)" "" "0000254229" "00000235" "30" "1002" "0" "1002" "0" "c.1002T>C" "r.(?)" "p.(Phe334=)" "" "0000254580" "00000235" "30" "23" "0" "23" "0" "c.23T>G" "r.(?)" "p.(Ile8Ser)" "" "0000255165" "00000235" "30" "939" "1245" "939" "1245" "c.939+1245T>C" "r.(=)" "p.(=)" "" "0000255264" "00000235" "30" "1085" "-3" "1085" "-3" "c.1085-3T>C" "r.spl?" "p.?" "" "0000255418" "00000235" "90" "1024" "0" "1024" "0" "c.1024T>C" "r.(?)" "p.(Cys342Arg)" "" "0000255447" "00000235" "90" "826" "0" "826" "0" "c.826T>G" "r.(?)" "p.(Phe276Val)" "" "0000255609" "00000235" "90" "799" "0" "799" "0" "c.799T>C" "r.(?)" "p.(Ser267Pro)" "" "0000255640" "00000235" "90" "868" "0" "868" "0" "c.868T>G" "r.(?)" "p.(Trp290Gly)" "" "0000255641" "00000235" "90" "868" "0" "868" "0" "c.868T>C" "r.(?)" "p.(Trp290Arg)" "" "0000255654" "00000235" "90" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Tyr340His)" "" "0000255655" "00000235" "90" "1018" "0" "1018" "0" "c.1018T>A" "r.(?)" "p.(Tyr340Asn)" "" "0000256250" "00000235" "50" "1069" "0" "1069" "0" "c.1069T>G" "r.(?)" "p.(Leu357Val)" "" "0000280780" "00000235" "10" "2725" "0" "2725" "0" "c.*259C>T" "r.(=)" "p.(=)" "" "0000280781" "00000235" "10" "2301" "15" "2301" "15" "c.2301+15C>T" "r.(=)" "p.(=)" "" "0000280782" "00000235" "10" "696" "0" "696" "0" "c.696A>G" "r.(?)" "p.(Val232=)" "" "0000283172" "00000235" "90" "1032" "0" "1032" "0" "c.1032G>A" "r.(?)" "p.(Ala344=)" "" "0000283173" "00000235" "50" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450Cys)" "" "0000283174" "00000235" "10" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Ser57Leu)" "" "0000283175" "00000235" "10" "1941" "0" "1941" "0" "c.1941C>T" "r.(?)" "p.(Leu647=)" "" "0000283176" "00000235" "10" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Thr98=)" "" "0000283926" "00000235" "90" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "" "0000283927" "00000235" "10" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Ser57Leu)" "" "0000283928" "00000235" "10" "2725" "0" "2725" "0" "c.*259C>T" "r.(=)" "p.(=)" "" "0000283929" "00000235" "10" "2301" "15" "2301" "15" "c.2301+15C>T" "r.(=)" "p.(=)" "" "0000287394" "00000235" "90" "1012" "0" "1012" "0" "c.1012G>C" "r.(?)" "p.(Gly338Arg)" "" "0000287395" "00000235" "90" "1019" "0" "1019" "0" "c.1019A>C" "r.(?)" "p.(Tyr340Ser)" "" "0000287396" "00000235" "90" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "" "0000287397" "00000235" "90" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "" "0000287398" "00000235" "90" "1025" "0" "1025" "0" "c.1025G>C" "r.(?)" "p.(Cys342Ser)" "" "0000287399" "00000235" "90" "1025" "0" "1025" "0" "c.1025G>T" "r.(?)" "p.(Cys342Phe)" "" "0000287400" "00000235" "90" "1026" "0" "1026" "0" "c.1026C>G" "r.(?)" "p.(Cys342Trp)" "" "0000287401" "00000235" "30" "1029" "0" "1029" "0" "c.1029G>A" "r.(?)" "p.(Leu343=)" "" "0000287402" "00000235" "90" "1032" "0" "1032" "0" "c.1032G>A" "r.(?)" "p.(Ala344=)" "" "0000287403" "00000235" "90" "1052" "0" "1052" "0" "c.1052C>G" "r.(?)" "p.(Ser351Cys)" "" "0000287404" "00000235" "90" "1061" "0" "1061" "0" "c.1061C>G" "r.(?)" "p.(Ser354Cys)" "" "0000287405" "00000235" "90" "1083" "0" "1083" "0" "c.1083A>T" "r.(?)" "p.(Pro361=)" "" "0000287406" "00000235" "90" "1084" "2" "1084" "4" "c.1084+2_1084+4delinsG" "r.spl?" "p.?" "" "0000287407" "00000235" "90" "1084" "3" "1084" "3" "c.1084+3A>G" "r.spl?" "p.?" "" "0000287408" "00000235" "10" "1084" "8" "1084" "8" "c.1084+8C>T" "r.(=)" "p.(=)" "" "0000287409" "00000235" "10" "110" "-16" "110" "-15" "c.110-16_110-15del" "r.(=)" "p.(=)" "" "0000287410" "00000235" "10" "110" "-26" "110" "-26" "c.110-26G>A" "r.(=)" "p.(=)" "" "0000287411" "00000235" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Gln)" "" "0000287413" "00000235" "30" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Ala511Thr)" "" "0000287414" "00000235" "30" "1572" "0" "1572" "0" "c.1572A>G" "r.(?)" "p.(Thr524=)" "" "0000287415" "00000235" "10" "1673" "-12" "1673" "-12" "c.1673-12C>T" "r.(=)" "p.(=)" "" "0000287416" "00000235" "30" "1788" "0" "1788" "0" "c.1788G>A" "r.(?)" "p.(Glu596=)" "" "0000287417" "00000235" "10" "17" "0" "17" "0" "c.17G>C" "r.(?)" "p.(Arg6Pro)" "" "0000287418" "00000235" "90" "1851" "0" "1851" "0" "c.1851G>C" "r.(?)" "p.(Leu617Phe)" "" "0000287419" "00000235" "10" "1863" "25" "1863" "25" "c.1863+25C>T" "r.(=)" "p.(=)" "" "0000287421" "00000235" "10" "1864" "-43" "1864" "-43" "c.1864-43del" "r.(=)" "p.(=)" "" "0000287422" "00000235" "30" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Asn637=)" "" "0000287423" "00000235" "90" "1922" "0" "1922" "0" "c.1922A>G" "r.(?)" "p.(Lys641Arg)" "" "0000287424" "00000235" "10" "1941" "0" "1941" "0" "c.1941C>T" "r.(?)" "p.(Leu647=)" "" "0000287425" "00000235" "90" "1977" "0" "1977" "0" "c.1977G>T" "r.(?)" "p.(Lys659Asn)" "" "0000287426" "00000235" "90" "1991" "0" "1991" "0" "c.1991G>A" "r.(?)" "p.(Arg664Gln)" "" "0000287427" "00000235" "30" "2190" "0" "2190" "0" "c.2190C>T" "r.(?)" "p.(Asn730=)" "" "0000287428" "00000235" "10" "2301" "15" "2301" "15" "c.2301+15C>T" "r.(=)" "p.(=)" "" "0000287429" "00000235" "30" "2310" "0" "2310" "0" "c.2310G>A" "r.(?)" "p.(Leu770=)" "" "0000287430" "00000235" "30" "2407" "0" "2407" "0" "c.2407A>G" "r.(?)" "p.(Met803Val)" "" "0000287431" "00000235" "10" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Thr98=)" "" "0000287432" "00000235" "30" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Leu104Phe)" "" "0000287433" "00000235" "90" "314" "0" "314" "0" "c.314A>G" "r.(?)" "p.(Tyr105Cys)" "" "0000287434" "00000235" "10" "377" "-29" "377" "-29" "c.377-29A>G" "r.(=)" "p.(=)" "" "0000287435" "00000235" "10" "454" "14" "454" "14" "c.454+14C>T" "r.(=)" "p.(=)" "" "0000287437" "00000235" "90" "755" "0" "755" "0" "c.755C>G" "r.(?)" "p.(Ser252Trp)" "" "0000287438" "00000235" "90" "755" "0" "755" "0" "c.755C>T" "r.(?)" "p.(Ser252Leu)" "" "0000287439" "00000235" "90" "758" "0" "758" "0" "c.758C>G" "r.(?)" "p.(Pro253Arg)" "" "0000287440" "00000235" "90" "812" "0" "812" "0" "c.812G>T" "r.(?)" "p.(Gly271Val)" "" "0000287441" "00000235" "90" "833" "0" "833" "0" "c.833G>T" "r.(?)" "p.(Cys278Phe)" "" "0000287442" "00000235" "90" "866" "0" "866" "0" "c.866A>C" "r.(?)" "p.(Gln289Pro)" "" "0000287443" "00000235" "90" "870" "0" "870" "0" "c.870G>C" "r.(?)" "p.(Trp290Cys)" "" "0000287444" "00000235" "10" "883" "0" "883" "0" "c.883G>C" "r.(?)" "p.(Glu295Gln)" "" "0000287445" "00000235" "50" "911" "0" "911" "0" "c.911A>G" "r.(?)" "p.(Asp304Gly)" "" "0000287446" "00000235" "90" "940" "-2" "940" "-2" "c.940-2A>G" "r.spl?" "p.?" "" "0000287447" "00000235" "30" "940" "-4" "940" "-4" "c.940-4C>G" "r.spl?" "p.?" "" "0000287448" "00000235" "90" "943" "0" "943" "0" "c.943G>T" "r.(?)" "p.(Ala315Ser)" "" "0000321786" "00000235" "30" "2410" "0" "2410" "0" "c.2410C>G" "r.(?)" "p.(Pro804Ala)" "" "0000321787" "00000235" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Gly298Ser)" "" "0000342927" "00000235" "30" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450Cys)" "" "0000348010" "00000235" "90" "826" "0" "826" "0" "c.826T>G" "r.(?)" "p.(Phe276Val)" "" "0000405880" "00000235" "90" "755" "0" "755" "0" "c.755C>G" "r.(?)" "p.(Ser252Trp)" "7" "0000474985" "00000235" "50" "1508" "0" "1508" "0" "c.1508T>C" "r.(?)" "p.(Ile503Thr)" "" "0000474986" "00000235" "50" "1508" "0" "1508" "0" "c.1508T>C" "r.(?)" "p.(Ile503Thr)" "" "0000539382" "00000235" "30" "3871" "0" "3871" "0" "c.*1405G>A" "r.(=)" "p.(=)" "" "0000539384" "00000235" "50" "2663" "0" "2663" "0" "c.*197del" "r.(?)" "p.(=)" "" "0000539385" "00000235" "50" "2301" "1413" "2301" "1414" "c.2301+1413_2301+1414delinsTT" "r.(=)" "p.(=)" "" "0000539386" "00000235" "10" "2301" "15" "2301" "15" "c.2301+15C>T" "r.(=)" "p.(=)" "" "0000539387" "00000235" "30" "2058" "-31" "2058" "-31" "c.2058-31A>G" "r.(=)" "p.(=)" "" "0000539388" "00000235" "30" "2057" "114" "2057" "135" "c.2057+114_2057+135del" "r.(=)" "p.(=)" "" "0000539389" "00000235" "10" "1987" "-99" "1987" "-99" "c.1987-99G>A" "r.(=)" "p.(=)" "" "0000539390" "00000235" "10" "1987" "-106" "1987" "-106" "c.1987-106A>G" "r.(=)" "p.(=)" "" "0000539391" "00000235" "10" "1864" "-17" "1864" "-17" "c.1864-17T>G" "r.(=)" "p.(=)" "" "0000539392" "00000235" "10" "1864" "-43" "1864" "-43" "c.1864-43del" "r.(=)" "p.(=)" "" "0000539394" "00000235" "10" "1864" "-123" "1864" "-122" "c.1864-123_1864-122insA" "r.(=)" "p.(=)" "" "0000539395" "00000235" "10" "1864" "-125" "1864" "-125" "c.1864-125dup" "r.(=)" "p.(=)" "" "0000539397" "00000235" "30" "1795" "0" "1795" "0" "c.1795A>T" "r.(?)" "p.(Thr599Ser)" "" "0000539398" "00000235" "90" "1694" "0" "1694" "0" "c.1694A>G" "r.(?)" "p.(Glu565Gly)" "" "0000539399" "00000235" "90" "1694" "0" "1694" "0" "c.1694A>C" "r.(?)" "p.(Glu565Ala)" "" "0000539400" "00000235" "30" "1561" "228" "1561" "228" "c.1561+228A>T" "r.(=)" "p.(=)" "" "0000539401" "00000235" "50" "1526" "0" "1526" "0" "c.1526A>G" "r.(?)" "p.(Lys509Arg)" "" "0000539402" "00000235" "50" "1493" "0" "1493" "0" "c.1493C>T" "r.(?)" "p.(Ala498Val)" "" "0000539403" "00000235" "50" "1456" "0" "1456" "0" "c.1456C>G" "r.(?)" "p.(Pro486Ala)" "" "0000539405" "00000235" "30" "1288" "-23" "1288" "-23" "c.1288-23G>C" "r.(=)" "p.(=)" "" "0000539406" "00000235" "30" "1288" "-31" "1288" "-31" "c.1288-31T>G" "r.(=)" "p.(=)" "" "0000539408" "00000235" "50" "1103" "0" "1103" "0" "c.1103A>T" "r.(?)" "p.(Glu368Val)" "" "0000539410" "00000235" "30" "1084" "8" "1084" "8" "c.1084+8C>T" "r.(=)" "p.(=)" "" "0000539411" "00000235" "90" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Ala362Thr)" "" "0000539412" "00000235" "90" "1052" "0" "1052" "0" "c.1052C>G" "r.(?)" "p.(Ser351Cys)" "" "0000539413" "00000235" "90" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "" "0000539414" "00000235" "90" "1024" "0" "1024" "0" "c.1024T>C" "r.(?)" "p.(Cys342Arg)" "" "0000539415" "00000235" "90" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "" "0000539416" "00000235" "90" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Tyr340His)" "" "0000539417" "00000235" "90" "870" "0" "870" "0" "c.870G>T" "r.(?)" "p.(Trp290Cys)" "" "0000539418" "00000235" "90" "868" "0" "868" "0" "c.868T>C" "r.(?)" "p.(Trp290Arg)" "" "0000539419" "00000235" "30" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Thr268Ile)" "" "0000539420" "00000235" "90" "758" "0" "758" "0" "c.758C>G" "r.(?)" "p.(Pro253Arg)" "" "0000539421" "00000235" "90" "755" "0" "755" "0" "c.755C>G" "r.(?)" "p.(Ser252Trp)" "" "0000539422" "00000235" "10" "749" "-27" "749" "-27" "c.749-27T>C" "r.(=)" "p.(=)" "" "0000539423" "00000235" "10" "749" "-112" "749" "-112" "c.749-112G>A" "r.(=)" "p.(=)" "" "0000539424" "00000235" "10" "696" "0" "696" "0" "c.696A>G" "r.(?)" "p.(Val232=)" "" "0000539426" "00000235" "30" "557" "0" "557" "0" "c.557T>C" "r.(?)" "p.(Met186Thr)" "" "0000539427" "00000235" "30" "455" "-6" "455" "-6" "c.455-6A>T" "r.(=)" "p.(=)" "" "0000539428" "00000235" "90" "314" "0" "314" "0" "c.314A>G" "r.(?)" "p.(Tyr105Cys)" "" "0000539429" "00000235" "30" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Thr98=)" "" "0000539430" "00000235" "30" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Ser57Leu)" "" "0000539431" "00000235" "30" "144" "0" "144" "0" "c.144A>C" "r.(?)" "p.(Glu48Asp)" "" "0000539432" "00000235" "10" "109" "10" "109" "10" "c.109+10T>G" "r.(=)" "p.(=)" "" "0000539433" "00000235" "30" "109" "10" "109" "10" "c.109+10T>G" "r.(=)" "p.(=)" "" "0000539434" "00000235" "30" "-74" "0" "-74" "0" "c.-74G>A" "r.(?)" "p.(=)" "" "0000577981" "00000235" "90" "755" "0" "755" "0" "c.755C>G" "r.(?)" "p.Ser252Trp" "" "0000612346" "00000235" "30" "1864" "-86" "1864" "-86" "c.1864-86dup" "r.(=)" "p.(=)" "" "0000612347" "00000235" "10" "1864" "-125" "1864" "-125" "c.1864-125dup" "r.(=)" "p.(=)" "" "0000612348" "00000235" "50" "1775" "0" "1775" "0" "c.1775G>A" "r.(?)" "p.(Arg592His)" "" "0000612349" "00000235" "50" "758" "0" "758" "0" "c.758C>T" "r.(?)" "p.(Pro253Leu)" "" "0000612350" "00000235" "50" "621" "0" "621" "0" "c.621C>G" "r.(?)" "p.(Tyr207Ter)" "" "0000612351" "00000235" "30" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Ala53=)" "" "0000656439" "00000235" "30" "939" "1154" "939" "1154" "c.939+1154C>T" "r.(=)" "p.(=)" "" "0000656440" "00000235" "90" "755" "0" "755" "0" "c.755C>G" "r.(?)" "p.(Ser252Trp)" "" "0000656441" "00000235" "50" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61Cys)" "" "0000667514" "00000235" "90" "1141" "0" "1141" "0" "c.1141T>G" "r.(?)" "p.(Tyr381Asp)" "" "0000678794" "00000235" "50" "101" "0" "101" "0" "c.101A>T" "r.(?)" "p.(Glu34Val)" "" "0000678795" "00000235" "50" "101" "0" "101" "0" "c.101A>T" "r.(?)" "p.(Glu34Val)" "" "0000690655" "00000235" "30" "1361" "0" "1361" "0" "c.1361C>T" "r.(?)" "p.(Thr454Met)" "" "0000690656" "00000235" "30" "540" "0" "540" "0" "c.540A>C" "r.(?)" "p.(Pro180=)" "" "0000690657" "00000235" "30" "454" "3" "454" "3" "c.454+3A>G" "r.spl?" "p.?" "" "0000722722" "00000235" "70" "1477" "0" "1477" "0" "c.1477G>C" "r.(?)" "p.(Gly493Arg)" "" "0000722723" "00000235" "70" "1144" "0" "1144" "0" "c.1144T>C" "r.(?)" "p.(Cys382Arg)" "" "0000722724" "00000235" "90" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Tyr375Cys)" "" "0000722725" "00000235" "50" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Ala67Thr)" "" "0000722726" "00000235" "30" "43" "0" "43" "0" "c.43A>G" "r.(?)" "p.(Met15Val)" "" "0000729939" "00000235" "90" "870" "0" "870" "0" "c.870G>C" "r.(?)" "p.(Trp290Cys)" "" "0000731592" "00000235" "90" "1947" "0" "1949" "0" "c.1947_1949del" "r.(?)" "p.(Arg649_Asp650delinsSer)" "" "0000731593" "00000235" "90" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Ala648Thr)" "" "0000731594" "00000235" "90" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Ala648Thr)" "" "0000731595" "00000235" "90" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Ala628Thr)" "" "0000735325" "00000235" "90" "758" "0" "758" "0" "c.758C>G" "r.(?)" "p.(Pro253Arg)" "" "0000735327" "00000235" "90" "758" "0" "758" "0" "c.758C>G" "r.(?)" "p.(Pro253Arg)" "" "0000735332" "00000235" "90" "755" "0" "755" "0" "c.755C>G" "r.(?)" "p.(Ser252Trp)" "" "0000735549" "00000235" "90" "334" "0" "334" "0" "c.334T>C" "r.(?)" "p.(Tyr112His)" "" "0000735550" "00000235" "90" "1070" "0" "1070" "0" "c.1070T>C" "r.(?)" "p.(Leu357Ser)" "" "0000759741" "00000235" "90" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "" "0000786645" "00000235" "70" "1052" "0" "1052" "0" "c.1052C>G" "r.(?)" "p.(Ser351Cys)" "" "0000804328" "00000235" "90" "943" "0" "943" "0" "c.943G>T" "r.(?)" "p.(Ala315Ser)" "" "0000804329" "00000235" "30" "942" "0" "942" "0" "c.942C>T" "r.(?)" "p.(Ala314=)" "" "0000804330" "00000235" "30" "939" "1203" "939" "1203" "c.939+1203C>T" "r.(=)" "p.(=)" "" "0000839639" "00000235" "70" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Arg210Gln)" "6" "0000852429" "00000235" "90" "1025" "0" "1025" "0" "c.1025G>C" "r.(?)" "p.(Cys342Ser)" "" "0000861845" "00000235" "90" "758" "0" "758" "0" "c.758C>G" "r.(?)" "p.(Pro253Arg)" "" "0000861846" "00000235" "30" "756" "0" "756" "0" "c.756G>A" "r.(?)" "p.(Ser252=)" "" "0000889050" "00000235" "30" "2247" "0" "2247" "0" "c.2247G>A" "r.(?)" "p.(Thr749=)" "" "0000889051" "00000235" "30" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Ala511Thr)" "" "0000889052" "00000235" "90" "940" "-2" "940" "-2" "c.940-2A>G" "r.spl?" "p.?" "" "0000889053" "00000235" "90" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Cys278Tyr)" "" "0000905532" "00000235" "50" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Thr98Met)" "" "0000913241" "00000235" "50" "2425" "0" "2425" "0" "c.2425C>T" "r.(?)" "p.(Leu809Phe)" "" "0000913242" "00000235" "90" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Ala648Thr)" "" "0000913243" "00000235" "70" "1922" "0" "1922" "0" "c.1922A>G" "r.(?)" "p.(Lys641Arg)" "" "0000913244" "00000235" "90" "758" "0" "758" "0" "c.758C>G" "r.(?)" "p.(Pro253Arg)" "" "0000925127" "00000235" "30" "1085" "-3" "1085" "-3" "c.1085-3T>C" "r.spl?" "p.?" "" "0000929650" "00000235" "50" "1103" "0" "1103" "0" "c.1103A>T" "r.(?)" "p.(Glu368Val)" "" "0000939846" "00000235" "90" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Ala648Thr)" "14" "0000949356" "00000235" "50" "2449" "0" "2449" "0" "c.2449G>A" "r.(?)" "p.(Gly817Ser)" "" "0000949357" "00000235" "90" "1025" "0" "1025" "0" "c.1025G>C" "r.(?)" "p.(Cys342Ser)" "" "0000949358" "00000235" "70" "621" "0" "621" "0" "c.621C>G" "r.(?)" "p.(Tyr207Ter)" "" "0000949359" "00000235" "50" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Arg190Gln)" "" "0000954969" "00000235" "50" "314" "0" "314" "0" "c.314A>G" "r.(?)" "p.(Tyr105Cys)" "" "0000965626" "00000235" "30" "1572" "0" "1572" "0" "c.1572A>G" "r.(?)" "p.(Thr524=)" "" "0000965628" "00000235" "70" "1184" "0" "1184" "0" "c.1184T>A" "r.(?)" "p.(Val395Asp)" "" "0000965629" "00000235" "50" "943" "0" "943" "0" "c.943G>T" "r.(?)" "p.(Ala315Ser)" "" "0000978927" "00000235" "50" "1840" "0" "1840" "0" "c.1840A>G" "r.(?)" "p.(Met614Val)" "" "0000978928" "00000235" "50" "1238" "0" "1238" "0" "c.1238C>T" "r.(?)" "p.(Pro413Leu)" "" "0000978929" "00000235" "50" "749" "-6016" "749" "-6016" "c.749-6016G>A" "r.(=)" "p.(=)" "" "0000987751" "00000235" "90" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Tyr308Cys)" "7" "0000998164" "00000235" "70" "2197" "0" "2197" "0" "c.2197T>G" "r.(?)" "p.(Tyr733Asp)" "" "0000998165" "00000235" "50" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Ser702Leu)" "" "0000998166" "00000235" "30" "1530" "0" "1530" "0" "c.1530G>C" "r.(?)" "p.(Glu510Asp)" "" "0000998167" "00000235" "30" "1507" "0" "1507" "0" "c.1507A>C" "r.(?)" "p.(Ile503Leu)" "" "0000998168" "00000235" "30" "1240" "0" "1240" "0" "c.1240G>A" "r.(?)" "p.(Ala414Thr)" "" "0000998169" "00000235" "30" "759" "0" "759" "0" "c.759T>G" "r.(?)" "p.(Pro253=)" "" "0000998170" "00000235" "90" "758" "0" "758" "0" "c.758C>G" "r.(?)" "p.(Pro253Arg)" "" "0000998171" "00000235" "30" "544" "0" "544" "0" "c.544G>A" "r.(?)" "p.(Gly182Arg)" "" "0001014599" "00000235" "10" "2725" "0" "2725" "0" "c.*259C>T" "r.(=)" "p.(=)" "" "0001014600" "00000235" "10" "2301" "15" "2301" "15" "c.2301+15C>T" "r.(=)" "p.(=)" "" "0001014601" "00000235" "10" "1864" "-17" "1864" "-17" "c.1864-17T>G" "r.(=)" "p.(=)" "" "0001014602" "00000235" "10" "696" "0" "696" "0" "c.696A>G" "r.(?)" "p.(Val232=)" "" "0001014603" "00000235" "10" "557" "0" "557" "0" "c.557T>C" "r.(?)" "p.(Met186Thr)" "" "0001014604" "00000235" "10" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Thr98=)" "" "0001014605" "00000235" "10" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Ser57Leu)" "" "0001025724" "00000235" "50" "1612" "0" "1612" "0" "c.1612A>T" "r.(?)" "p.(Met538Leu)" "" "0001030321" "00000235" "50" "377" "-5" "377" "-5" "c.377-5T>C" "r.(?)" "p.(?)" "" "0001037759" "00000235" "30" "1987" "-5" "1987" "-5" "c.1987-5T>G" "r.spl?" "p.?" "" "0001037760" "00000235" "30" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Ala511Thr)" "" "0001037761" "00000235" "50" "1397" "0" "1397" "0" "c.1397A>G" "r.(?)" "p.(Tyr466Cys)" "" "0001037762" "00000235" "30" "1085" "0" "1085" "0" "c.1085C>T" "r.(?)" "p.(Ala362Val)" "" "0001037763" "00000235" "50" "1029" "0" "1029" "0" "c.1029G>A" "r.(?)" "p.(Leu343=)" "" "0001037764" "00000235" "30" "749" "-5985" "749" "-5985" "c.749-5985G>T" "r.(=)" "p.(=)" "" "0001037765" "00000235" "10" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Thr98=)" "" "0001037766" "00000235" "30" "263" "0" "263" "0" "c.263T>C" "r.(?)" "p.(Ile88Thr)" "" "0001037767" "00000235" "50" "122" "0" "122" "0" "c.122A>C" "r.(?)" "p.(Lys41Thr)" "" "0001037768" "00000235" "50" "29" "0" "29" "0" "c.29T>C" "r.(?)" "p.(Leu10Pro)" "" "0001045423" "00000235" "50" "1150" "0" "1150" "0" "c.1150G>T" "r.(?)" "p.(Gly384Trp)" "" "0001053721" "00000235" "30" "2399" "0" "2399" "0" "c.2399C>T" "r.(?)" "p.(Pro800Leu)" "" "0001053722" "00000235" "50" "1533" "0" "1533" "0" "c.1533G>A" "r.(?)" "p.(=)" "" "0001053723" "00000235" "30" "1062" "0" "1062" "0" "c.1062T>A" "r.(?)" "p.(=)" "" "0001053724" "00000235" "50" "798" "0" "799" "0" "c.798_799insACTGTC" "r.(?)" "p.(Ala266_Ser267insThrVal)" "" "0001053725" "00000235" "30" "759" "0" "759" "0" "c.759T>G" "r.(?)" "p.(Pro253=)" "" "0001053726" "00000235" "50" "749" "-6551" "749" "-6551" "c.749-6551G>T" "r.(=)" "p.(=)" "" "0001053727" "00000235" "50" "749" "-6576" "749" "-6576" "c.749-6576T>G" "r.(=)" "p.(=)" "" "0001053728" "00000235" "10" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Ala53=)" "" "0001058684" "00000235" "90" "940" "-1" "940" "-1" "c.940-1G>A" "r.spl" "p.?" "" "0001058685" "00000235" "70" "1774" "0" "1774" "0" "c.1774C>T" "r.(?)" "p.(Arg592Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 73 "{{screeningid}}" "{{variantid}}" "0000017800" "0000037968" "0000017801" "0000037969" "0000017802" "0000037970" "0000017803" "0000037971" "0000019758" "0000040205" "0000019759" "0000040206" "0000019760" "0000040207" "0000019761" "0000040208" "0000019762" "0000040209" "0000019763" "0000040210" "0000019764" "0000040211" "0000019765" "0000040212" "0000019766" "0000040213" "0000019767" "0000040214" "0000019768" "0000040215" "0000019769" "0000040216" "0000019770" "0000040217" "0000019771" "0000040218" "0000019772" "0000040219" "0000019773" "0000040220" "0000019774" "0000040221" "0000019776" "0000040223" "0000019777" "0000040224" "0000019778" "0000040225" "0000019779" "0000040226" "0000019782" "0000040229" "0000019783" "0000040230" "0000019784" "0000040231" "0000019785" "0000040232" "0000019786" "0000040233" "0000019787" "0000040234" "0000019788" "0000040235" "0000019789" "0000040236" "0000019790" "0000040237" "0000019791" "0000040238" "0000019792" "0000040239" "0000019793" "0000040240" "0000019794" "0000040241" "0000019795" "0000040242" "0000019806" "0000040253" "0000019807" "0000040254" "0000019811" "0000040257" "0000019812" "0000040258" "0000019813" "0000040259" "0000019814" "0000040260" "0000019815" "0000040261" "0000024236" "0000046794" "0000050421" "0000079401" "0000050465" "0000079668" "0000182063" "0000405880" "0000232641" "0000474985" "0000232651" "0000474986" "0000249252" "0000577981" "0000304116" "0000667514" "0000332657" "0000729939" "0000333785" "0000731592" "0000333786" "0000731593" "0000333787" "0000731594" "0000333788" "0000731595" "0000336183" "0000735325" "0000336185" "0000735327" "0000336187" "0000735332" "0000336274" "0000735549" "0000336275" "0000735550" "0000360061" "0000759741" "0000375304" "0000786645" "0000404054" "0000839639" "0000427961" "0000905532" "0000441904" "0000939846" "0000446616" "0000954969" "0000453219" "0000987751" "0000470562" "0001058684" "0000470563" "0001058685"