### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BRAF) # 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}}" "BRAF" "v-raf murine sarcoma viral oncogene homolog B1" "7" "q34" "no" "LRG_299" "UD_130816008058" "" "http://www.LOVD.nl/BRAF" "" "1" "1097" "673" "164757" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/BRAF_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-03-27 16:21:11" "00000" "2025-09-18 16:36:02" ## 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}}" "00003475" "BRAF" "v-raf murine sarcoma viral oncogene homolog B1" "001" "NM_004333.4" "" "NP_004324.2" "" "" "" "-61" "2886" "2301" "140624564" "140433812" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00383" "NS" "Noonan syndrome (NS)" "" "" "" "autosomal dominant" "" "00008" "2014-05-14 14:26:30" "00006" "2021-12-10 21:51:32" "00639" "cancer, lung" "cancer, lung (adenocarcinoma)" "" "211980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00640" "CFC1" "cardiofaciocutaneous syndrome, type 1 (CFC-1)" "AD" "115150" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00641" "NS7" "Noonan syndrome, type 7 (NS-7)" "AD" "613706" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00642" "LPRD3" "LEOPARD syndrome, type 3 (LPRD-3)" "AD" "613707" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00926" "melanoma" "melanoma" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-24 11:48:38" "00927" "-" "cancer, colorectal, somatic" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "00928" "NSCLC" "cancer, lung, non-small cell (NSCLC)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-06-19 20:55:44" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05581" "ganglioglioma" "ganglioglioma" "" "" "" "" "" "00006" "2019-03-08 17:58:22" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{geneid}}" "{{diseaseid}}" "BRAF" "00139" "BRAF" "00383" "BRAF" "00639" "BRAF" "00640" "BRAF" "00641" "BRAF" "00642" "BRAF" "00926" "BRAF" "00927" "BRAF" "00928" ## Individuals ## Do not remove or alter this header ## ## Count = 31 "{{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}}" "00034558" "" "" "" "1" "" "01268" "" "" "" "" "" "" "0" "" "" "" "" "00034854" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00043993" "" "" "" "1" "" "00034" "{PMID:Joyce 2016:26242988}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00050516" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050663" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00226340" "" "" "" "1" "" "03224" "" "" "F" "?" "" "" "0" "" "" "" "patient9" "00226341" "" "" "" "1" "" "03224" "" "" "M" "?" "" "" "0" "" "" "" "patient10" "00226342" "" "" "" "1" "" "03224" "" "" "?" "?" "" "" "0" "" "" "" "patient11" "00226343" "" "" "" "1" "" "03224" "" "" "F" "?" "" "" "0" "" "" "" "patient12" "00226344" "" "" "" "1" "" "03224" "" "" "M" "?" "" "" "0" "" "" "" "patient13" "00226345" "" "" "" "1" "" "03224" "" "" "M" "?" "" "" "0" "" "" "" "patient14" "00248402" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00294338" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294339" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302970" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat15" "00307253" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 55" "00307257" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "0" "" "" "" "Patient 62" "00361596" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "10DG1847" "00361616" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "M" "no" "Saudi Arabia" "" "0" "" "" "" "09DG00792" "00374223" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0597" "00385872" "" "" "" "1" "" "04178" "" "" "F" "?" "Egypt" "" "0" "" "" "" "" "00398754" "" "" "" "1" "" "01164" "" "" "M" "no" "" "" "0" "" "" "" "189714" "00410430" "" "" "" "1" "" "04322" "" "" "M" "no" "China" "" "" "" "" "" "Patient 5" "00440399" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3453.1" "00449826" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00449977" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00457908" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00458260" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00464605" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00465241" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00466172" "" "" "" "1" "" "03820" "" "" "F" "" "Brazil" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 29 "{{individualid}}" "{{diseaseid}}" "00034558" "00091" "00043993" "00641" "00050516" "00198" "00050663" "00198" "00226340" "05581" "00226341" "05581" "00226342" "05581" "00226343" "05581" "00226344" "05581" "00226345" "05581" "00294338" "00198" "00294339" "00198" "00302970" "05521" "00307253" "01544" "00307257" "01544" "00361596" "00139" "00361616" "00139" "00374223" "00198" "00385872" "00383" "00398754" "00641" "00410430" "00641" "00440399" "00198" "00449826" "00139" "00449977" "00198" "00457908" "00198" "00458260" "00198" "00464605" "00152" "00465241" "00198" "00466172" "00640" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00139, 00152, 00198, 00383, 00639, 00640, 00641, 00642, 00926, 00927, 00928, 01544, 05521, 05581 ## Count = 21 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000027956" "00091" "00034558" "01268" "-" "" "cancer, colorectal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037128" "00198" "00050516" "00006" "Isolated (sporadic)" "" "optic nerve hypoplasia, moderately short stature, pulmonic stenosis, global developmental delay, joint laxity, abnormal facial shape" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037275" "00198" "00050663" "00006" "Isolated (sporadic)" "" "obesity, redundant neck skin, low-set posteriorly rotated ears, abnormal facial shape, abnormality of skin pigmentation, sparse eyebrow, broad forehead, downslanted palpebral fissures, ptosis, epicanthus, wide nose, short broad hands, bilateral single transverse palmar creases, short tapering fingers, clinodactyly of the 5th finger, fifth toe clinodactyly, small feet, abnormal respiratory patterns, pes planus, macroglossia, overgrowth, abnormality of the ureter, pectus excavatum, high anterior hairline" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000073486" "00641" "00043993" "00034" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187396" "00198" "00248402" "01164" "Unknown" "" "HP:0005105 (Abnormal nasal morphology); HP:0001249 (Intellectual disability); HP:0000316 (Hypertelorism); HP:0010882 (Pulmonary valve atresia); HP:0002121 (Absence seizures); HP:0000256 (Macrocephaly); HP:0010954 (Hypoplastic right heart); HP:0011220 (Prominent forehead); HP:0001744 (Splenomegaly); HP:0000475 (Broad neck)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230053" "05521" "00302970" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy; age onset infantile" "" "" "" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000233058" "01544" "00307253" "03753" "Unknown" "" "Unilateral" "" "00y55m" "HP:0030953" "" "" "" "" "" "" "" "" "" "" "" "" "0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" "" "" "" "" "" "0000257001" "00139" "00361596" "00006" "Isolated (sporadic)" "1y" "syndromic; global developmental delay, dysmorphism" "" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257021" "00139" "00361616" "00006" "Isolated (sporadic)" "0y7m" "syndromic; global developmental delay, dysmorphism and pulmonic stenosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269433" "00198" "00374223" "00006" "Familial, autosomal dominant" "" "Developmental delay, failure to thrive, seizures, ID, frontal bossing, macrocephaly and occular nystagmus." "" "" "" "" "" "" "" "" "" "" "" "" "" "Costello syndrome" "" "0000291838" "00641" "00398754" "01164" "Isolated (sporadic)" "00y07m" "Failure to thrive, Abnormal hepatic echogenicity, Proptosis, Hypertonia, Low-set ears, High forehead" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000302535" "00641" "00410430" "04322" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000330309" "00198" "00440399" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Cardiofaciocutaneous syndrome-1 (MIM #115150)" "" "" "0000338973" "00139" "00449826" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0007663" "" "" "" "" "" "" "" "" "" "" "" "" "NS7" "intellectual disability" "" "0000339037" "00198" "00449977" "03544" "Isolated (sporadic)" "" "HP:0001263, HP:0004322, HP:0000957, HP:0000049" "" "" "" "" "" "" "" "" "" "" "" "" "CFC1" "global developmental delay" "" "0000346358" "00198" "00457908" "03544" "Isolated (sporadic)" "" "HP:0004322, HP:0000252, HP:0001249, HP:0000271, HP:0002334, HP:0000664, HP:0007371, HP:0001252" "" "" "" "" "" "" "" "" "" "" "" "" "" "complex neurodevelopmental disorder" "" "0000346696" "00198" "00458260" "03544" "Isolated (sporadic)" "" "HP:0001252, HP:0025404, HP:0000483, HP:0001263" "" "" "" "" "" "" "" "" "" "" "" "" "CFC1" "complex neurodevelopmental disorder" "" "0000350592" "00152" "00464605" "03544" "Isolated (sporadic)" "" "HP:0001642, HP:0001631, HP:0000271" "" "" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000350776" "00198" "00465241" "03544" "Isolated (sporadic)" "" "HP:0000271, HP:0000496, HP:0001637, HP:0001920, HP:0002900, HP:0002902, HP:0009062, HP:0012372, HP:0012444, HP:0100817" "" "" "" "" "" "" "" "" "" "" "" "" "CFC1" "multiple congenital abnormalities" "" "0000351559" "00640" "00466172" "03820" "Unknown" "" "Intellectual disability, Hydronephrosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 31 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000034629" "00034558" "1" "01268" "00006" "2012-07-18 17:46:25" "00002" "2012-07-20 17:00:56" "SEQ-NG-I" "DNA" "" "" "0000034924" "00034854" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000044099" "00043993" "1" "00034" "00034" "2015-06-29 11:54:17" "" "" "SEQ" "DNA" "blood" "" "0000050461" "00050516" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050608" "00050663" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000227416" "00226340" "1" "03224" "03224" "2019-03-08 13:26:15" "" "" "SEQ-NG" "DNA" "Brain tissue" "gene panel" "0000227417" "00226341" "1" "03224" "03224" "2019-03-08 13:29:33" "" "" "SEQ-NG" "DNA" "Brain tissue" "gene panel" "0000227418" "00226342" "1" "03224" "03224" "2019-03-08 13:32:05" "" "" "SEQ-NG" "DNA" "Brain tissue" "" "0000227419" "00226343" "1" "03224" "03224" "2019-03-08 13:34:41" "" "" "SEQ-NG" "DNA" "Brain tissue" "gene panel" "0000227420" "00226344" "1" "03224" "03224" "2019-03-08 13:37:19" "" "" "SEQ-NG" "DNA" "Brain tissue" "gene panel" "0000227427" "00226345" "1" "03224" "03224" "2019-03-08 14:09:14" "" "" "SEQ-NG" "DNA" "Brain tissue" "gene panel" "0000249506" "00248402" "1" "01164" "01164" "2019-07-23 17:05:26" "" "" "SEQ-NG-S" "DNA" "" "" "0000295506" "00294338" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295507" "00294339" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304095" "00302970" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000308396" "00307253" "1" "03753" "03753" "2020-08-06 22:41:12" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000362824" "00361596" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000362844" "00361616" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000375417" "00374223" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000387100" "00385872" "1" "04178" "04178" "2021-10-17 17:27:38" "" "" "SEQ-NG" "DNA" "White blood cells" "gene panel including PTPN11, SOS1, RAF1, BRAF, HRAS and CBL" "0000399995" "00398754" "1" "01164" "01164" "2022-01-11 17:12:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000411693" "00410430" "1" "04322" "04322" "2022-05-26 09:30:33" "" "" "SEQ-NG" "DNA" "" "" "0000441884" "00440399" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451422" "00449826" "1" "03544" "03544" "2024-05-16 12:42:20" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000451573" "00449977" "1" "03544" "03544" "2024-05-24 11:50:33" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000459528" "00457908" "1" "03544" "03544" "2024-11-21 07:10:38" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000459882" "00458260" "1" "03544" "03544" "2024-12-12 06:49:03" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000466247" "00464605" "1" "03544" "03544" "2025-04-01 06:29:45" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000466891" "00465241" "1" "03544" "03544" "2025-04-26 11:04:00" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000467830" "00466172" "1" "03820" "03820" "2025-08-06 14:23:57" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000034629" "BRAF" "0000034924" "BRAF" "0000044099" "BRAF" "0000050461" "BRAF" "0000050608" "BRAF" "0000227416" "BRAF" "0000227417" "BRAF" "0000227418" "BRAF" "0000227419" "BRAF" "0000227420" "BRAF" "0000227427" "BRAF" "0000304095" "BRAF" "0000308396" "RB1" "0000362824" "BRAF" "0000362844" "BRAF" "0000375417" "BRAF" "0000387100" "BRAF" "0000387100" "CBL" "0000387100" "HRAS" "0000387100" "PTPN11" "0000387100" "RAF1" "0000387100" "SOS1" "0000399995" "BRAF" "0000411693" "BRAF" ## 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 = 159 "{{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}}" "0000061746" "0" "70" "7" "140453136" "140453136" "subst" "0" "01268" "BRAF_000001" "g.140453136A>T" "" "" "" "" "" "Somatic" "-" "" "0" "" "" "g.140753336A>T" "" "likely pathogenic" "" "0000062043" "1" "90" "7" "140453136" "140453136" "subst" "0" "01164" "BRAF_000001" "g.140453136A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.140753336A>T" "" "pathogenic" "" "0000071913" "0" "70" "7" "140501302" "140501302" "subst" "0" "00034" "BRAF_000002" "g.140501302T>C" "" "{PMID:Joyce 2016:26242988}" "" "" "" "De novo" "-" "" "0" "" "" "g.140801502T>C" "" "likely pathogenic" "" "0000079441" "0" "90" "7" "140453133" "140453133" "subst" "0" "00006" "BRAF_000003" "g.140453133T>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.140753333T>A" "" "pathogenic" "" "0000079588" "0" "90" "7" "140476811" "140476811" "subst" "0" "00006" "BRAF_000004" "g.140476811C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.140777011C>T" "" "pathogenic" "" "0000246608" "0" "10" "7" "140481511" "140481511" "subst" "0.00188609" "02330" "BRAF_000015" "g.140481511A>C" "" "" "" "BRAF(NM_004333.6):c.1315-18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140781711A>C" "" "benign" "" "0000252147" "0" "30" "7" "140434585" "140434585" "del" "0" "02326" "BRAF_000008" "g.140434585del" "" "" "" "BRAF(NM_004333.4):c.2128-5delT, BRAF(NM_004333.6):c.2128-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140734785del" "" "likely benign" "" "0000252465" "0" "90" "7" "140449165" "140449165" "subst" "0" "02326" "BRAF_000042" "g.140449165A>C" "" "" "" "BRAF(NM_004333.4):c.1914T>G (p.D638E), BRAF(NM_004333.6):c.1914T>G (p.D638E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140749365A>C" "" "pathogenic" "" "0000258689" "0" "30" "7" "140494224" "140494224" "subst" "3.24907E-5" "02330" "BRAF_000016" "g.140494224T>C" "" "" "" "BRAF(NM_004333.4):c.1024A>G (p.(Ile342Val)), BRAF(NM_004333.6):c.1024A>G (p.I342V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140794424T>C" "" "likely benign" "" "0000258690" "0" "10" "7" "140482908" "140482908" "subst" "0.00318865" "02330" "BRAF_000043" "g.140482908T>C" "" "" "" "BRAF(NM_004333.4):c.1227A>G (p.S409=), BRAF(NM_004333.6):c.1227A>G (p.S409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140783108T>C" "" "benign" "" "0000258691" "0" "10" "7" "140449071" "140449071" "subst" "0.198481" "02330" "BRAF_000013" "g.140449071C>G" "" "" "" "BRAF(NM_004333.6):c.1992+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140749271C>G" "" "benign" "" "0000258693" "0" "10" "7" "140434585" "140434585" "dup" "0" "02330" "BRAF_000009" "g.140434585dup" "" "" "" "BRAF(NM_004333.4):c.2128-5dup (p.?), BRAF(NM_004333.4):c.2128-5dupT, BRAF(NM_004333.6):c.2128-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140734785dup" "" "benign" "" "0000258695" "0" "30" "7" "140534556" "140534556" "subst" "4.06246E-5" "02330" "BRAF_000017" "g.140534556G>A" "" "" "" "BRAF(NM_004333.4):c.357C>T (p.(=)), BRAF(NM_004333.6):c.357C>T (p.T119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140834756G>A" "" "likely benign" "" "0000258696" "0" "10" "7" "140624426" "140624426" "subst" "0.00239124" "02330" "BRAF_000019" "g.140624426C>A" "" "" "" "BRAF(NM_004333.4):c.78G>T (p.(Glu26Asp)), BRAF(NM_004333.6):c.78G>T (p.E26D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140924626C>A" "" "benign" "" "0000260410" "0" "90" "7" "140501350" "140501350" "subst" "0" "02329" "BRAF_000040" "g.140501350G>A" "" "" "" "BRAF(NM_004333.6):c.722C>T (p.T241M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140801550G>A" "" "pathogenic" "" "0000261489" "0" "30" "7" "140434574" "140434574" "subst" "0" "02326" "BRAF_000007" "g.140434574C>A" "" "" "" "BRAF(NM_004333.4):c.2128-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140734774C>A" "" "likely benign" "" "0000263742" "0" "30" "7" "140482908" "140482908" "subst" "0.00318865" "01943" "BRAF_000043" "g.140482908T>C" "" "" "" "BRAF(NM_004333.4):c.1227A>G (p.S409=), BRAF(NM_004333.6):c.1227A>G (p.S409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140783108T>C" "" "likely benign" "" "0000331904" "0" "50" "7" "140476733" "140476733" "subst" "8.1277E-6" "01804" "BRAF_000014" "g.140476733C>T" "" "" "" "BRAF(NM_004333.4):c.1673G>A (p.(Arg558Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140776933C>T" "" "VUS" "" "0000331905" "0" "30" "7" "140481379" "140481379" "subst" "0" "01804" "BRAF_000058" "g.140481379G>A" "" "" "" "BRAF(NM_004333.4):c.1429C>T (p.(His477Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140781579G>A" "" "likely benign" "" "0000331906" "0" "50" "7" "140534652" "140534652" "subst" "0" "01804" "BRAF_000064" "g.140534652G>C" "" "" "" "BRAF(NM_004333.4):c.261C>G (p.(Ser87Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140834852G>C" "" "VUS" "" "0000337201" "0" "30" "7" "140449225" "140449225" "subst" "4.0797E-6" "02327" "BRAF_000024" "g.140449225G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140749425G>C" "" "likely benign" "" "0000337202" "0" "30" "7" "140477894" "140477894" "subst" "0.00098844" "02327" "BRAF_000031" "g.140477894T>C" "" "" "" "BRAF(NM_004333.6):c.1433-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140778094T>C" "" "likely benign" "" "0000339425" "0" "10" "7" "140481425" "140481425" "subst" "0.000861075" "02327" "BRAF_000033" "g.140481425T>C" "" "" "" "BRAF(NM_001374258.1):c.1503A>G (p.Q501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140781625T>C" "" "benign" "" "0000342450" "0" "50" "7" "140501294" "140501294" "subst" "0" "02327" "BRAF_000036" "g.140501294G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140801494G>C" "" "VUS" "" "0000342732" "0" "70" "7" "140494163" "140494163" "subst" "0" "02327" "BRAF_000035" "g.140494163C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140794363C>T" "" "likely pathogenic" "" "0000342779" "0" "30" "7" "140487375" "140487375" "subst" "0.000182845" "02327" "BRAF_000034" "g.140487375T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140787575T>C" "" "likely benign" "" "0000343301" "0" "50" "7" "140434542" "140434542" "subst" "0" "02327" "BRAF_000021" "g.140434542C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140734742C>T" "" "VUS" "" "0000343790" "0" "90" "7" "140453987" "140453987" "subst" "0" "02327" "BRAF_000027" "g.140453987T>C" "" "" "" "BRAF(NM_004333.6):c.1741A>G (p.N581D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140754187T>C" "" "pathogenic" "" "0000344143" "0" "90" "7" "140453154" "140453154" "subst" "0" "02327" "BRAF_000026" "g.140453154T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140753354T>A" "" "pathogenic" "" "0000344708" "0" "90" "7" "140501302" "140501302" "subst" "0" "02327" "BRAF_000002" "g.140501302T>C" "" "" "" "BRAF(NM_001374258.1):c.770A>G (p.Q257R), BRAF(NM_004333.6):c.770A>G (p.Q257R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140801502T>C" "" "pathogenic" "" "0000344709" "0" "90" "7" "140501303" "140501303" "subst" "0" "02327" "BRAF_000037" "g.140501303G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140801503G>T" "" "pathogenic" "" "0000346095" "0" "90" "7" "140481417" "140481417" "subst" "0" "02327" "BRAF_000032" "g.140481417C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140781617C>A" "" "pathogenic" "" "0000346181" "0" "90" "7" "140453148" "140453148" "subst" "0" "02327" "BRAF_000025" "g.140453148C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140753348C>A" "" "pathogenic" "" "0000347236" "0" "70" "7" "140453999" "140453999" "subst" "0" "02327" "BRAF_000028" "g.140453999G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140754199G>T" "" "likely pathogenic" "" "0000347589" "0" "90" "7" "140477813" "140477813" "subst" "0" "02327" "BRAF_000030" "g.140477813T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140778013T>C" "" "pathogenic" "" "0000348004" "0" "70" "7" "140501331" "140501331" "subst" "0" "02327" "BRAF_000038" "g.140501331A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140801531A>C" "" "likely pathogenic" "" "0000349382" "0" "90" "7" "140501350" "140501350" "subst" "0" "02327" "BRAF_000040" "g.140501350G>A" "" "" "" "BRAF(NM_004333.6):c.722C>T (p.T241M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140801550G>A" "" "pathogenic" "" "0000349823" "0" "50" "7" "140476815" "140476815" "subst" "0" "02327" "BRAF_000029" "g.140476815A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140777015A>G" "" "VUS" "" "0000350160" "0" "50" "7" "140449182" "140449182" "subst" "0" "02327" "BRAF_000023" "g.140449182A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140749382A>G" "" "VUS" "" "0000350912" "0" "10" "7" "140481511" "140481511" "subst" "0.00188609" "02327" "BRAF_000015" "g.140481511A>C" "" "" "" "BRAF(NM_004333.6):c.1315-18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140781711A>C" "" "benign" "" "0000350913" "0" "30" "7" "140550024" "140550024" "subst" "0" "02327" "BRAF_000041" "g.140550024T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140850224T>G" "" "likely benign" "" "0000465657" "0" "70" "7" "140453136" "140453136" "subst" "0" "03224" "BRAF_000001" "g.140453136A>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.140753336A>T" "" "likely pathogenic" "" "0000465658" "0" "70" "7" "140453136" "140453136" "subst" "0" "03224" "BRAF_000001" "g.140453136A>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.140753336A>T" "" "likely pathogenic" "" "0000465659" "0" "70" "7" "140453136" "140453136" "subst" "0" "03224" "BRAF_000001" "g.140453136A>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.140753336A>T" "" "likely pathogenic" "" "0000465660" "0" "70" "7" "140453136" "140453136" "subst" "0" "03224" "BRAF_000001" "g.140453136A>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.140753336A>T" "" "likely pathogenic" "" "0000465661" "0" "70" "7" "140453136" "140453136" "subst" "0" "03224" "BRAF_000001" "g.140453136A>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.140753336A>T" "" "likely pathogenic" "" "0000466826" "0" "70" "7" "140476881" "140476889" "dup" "0" "03224" "BRAF_000044" "g.140476881_140476889dup" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.140777081_140777089dup" "" "likely pathogenic" "" "0000530979" "0" "30" "7" "140434585" "140434586" "ins" "0" "02326" "BRAF_000046" "g.140434585_140434586insAAAAAAAAAAAAAAAAAAAA" "" "" "" "BRAF(NM_004333.4):c.2128-5_2128-4insTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140734785_140734786insAAAAAAAAAAAAAAAAAAAA" "" "likely benign" "" "0000530980" "0" "10" "7" "140434585" "140434585" "del" "0" "02330" "BRAF_000008" "g.140434585del" "" "" "" "BRAF(NM_004333.4):c.2128-5delT, BRAF(NM_004333.6):c.2128-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140734785del" "" "benign" "" "0000530981" "0" "10" "7" "140434585" "140434585" "del" "0" "01943" "BRAF_000008" "g.140434585del" "" "" "" "BRAF(NM_004333.4):c.2128-5delT, BRAF(NM_004333.6):c.2128-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140734785del" "" "benign" "" "0000530983" "0" "30" "7" "140434585" "140434585" "dup" "0" "01943" "BRAF_000009" "g.140434585dup" "" "" "" "BRAF(NM_004333.4):c.2128-5dup (p.?), BRAF(NM_004333.4):c.2128-5dupT, BRAF(NM_004333.6):c.2128-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140734785dup" "" "likely benign" "" "0000530984" "0" "30" "7" "140434585" "140434585" "dup" "0" "01804" "BRAF_000009" "g.140434585dup" "" "" "" "BRAF(NM_004333.4):c.2128-5dup (p.?), BRAF(NM_004333.4):c.2128-5dupT, BRAF(NM_004333.6):c.2128-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140734785dup" "" "likely benign" "" "0000530985" "0" "30" "7" "140434590" "140434596" "dup" "0" "02326" "BRAF_000047" "g.140434590_140434596dup" "" "" "" "BRAF(NM_004333.4):c.2128-23_2128-17dupTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140734790_140734796dup" "" "likely benign" "" "0000530986" "0" "30" "7" "140434596" "140434597" "ins" "0" "02326" "BRAF_000049" "g.140434596_140434597insAAAAAAAAAAAAAAAAAAAAAAA" "" "" "" "BRAF(NM_004333.4):c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140734796_140734797insAAAAAAAAAAAAAAAAAAAAAAA" "" "likely benign" "" "0000530987" "0" "30" "7" "140434596" "140434597" "ins" "0" "02326" "BRAF_000050" "g.140434596_140434597insAAAAAAAAAAAAAAAAAAAAAAAA" "" "" "" "BRAF(NM_004333.4):c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140734796_140734797insAAAAAAAAAAAAAAAAAAAAAAAA" "" "likely benign" "" "0000530988" "0" "10" "7" "140434596" "140434596" "dup" "0" "02330" "BRAF_000048" "g.140434596dup" "" "" "" "BRAF(NM_004333.6):c.2128-17dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140734796dup" "" "benign" "" "0000530989" "0" "10" "7" "140434604" "140434613" "del" "0" "02330" "BRAF_000051" "g.140434604_140434613del" "" "" "" "BRAF(NM_004333.6):c.2128-27_2128-18delCTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140734804_140734813del" "" "benign" "" "0000530990" "0" "10" "7" "140439756" "140439756" "dup" "0" "02330" "BRAF_000022" "g.140439756dup" "" "" "" "BRAF(NM_004333.6):c.1993-10dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140739956dup" "" "benign" "" "0000530992" "0" "10" "7" "140449150" "140449150" "subst" "0.201162" "02330" "BRAF_000053" "g.140449150T>C" "" "" "" "BRAF(NM_004333.6):c.1929A>G (p.G643=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140749350T>C" "" "benign" "" "0000530994" "0" "90" "7" "140453987" "140453987" "subst" "0" "02329" "BRAF_000027" "g.140453987T>C" "" "" "" "BRAF(NM_004333.6):c.1741A>G (p.N581D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140754187T>C" "" "pathogenic" "" "0000530995" "0" "50" "7" "140477803" "140477803" "subst" "0" "02329" "BRAF_000056" "g.140477803A>T" "" "" "" "BRAF(NM_004333.6):c.1505T>A (p.V502E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140778003A>T" "" "VUS" "" "0000530996" "0" "50" "7" "140477818" "140477818" "subst" "0" "02329" "BRAF_000057" "g.140477818G>A" "" "" "" "BRAF(NM_004333.6):c.1490C>T (p.A497V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140778018G>A" "" "VUS" "" "0000530997" "0" "30" "7" "140477894" "140477894" "subst" "0.00098844" "02330" "BRAF_000031" "g.140477894T>C" "" "" "" "BRAF(NM_004333.6):c.1433-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140778094T>C" "" "likely benign" "" "0000530998" "0" "90" "7" "140481418" "140481418" "subst" "0" "02327" "BRAF_000059" "g.140481418C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140781618C>T" "" "pathogenic" "" "0000530999" "0" "30" "7" "140481476" "140481476" "subst" "0.000548379" "02330" "BRAF_000060" "g.140481476C>T" "" "" "" "BRAF(NM_004333.6):c.1332G>A (p.R444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140781676C>T" "" "likely benign" "" "0000531000" "0" "30" "7" "140494246" "140494246" "subst" "8.12209E-6" "01943" "BRAF_000061" "g.140494246C>T" "" "" "" "BRAF(NM_004333.4):c.1002G>A (p.P334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140794446C>T" "" "likely benign" "" "0000531001" "0" "30" "7" "140501235" "140501235" "subst" "0" "01804" "BRAF_000062" "g.140501235C>T" "" "" "" "BRAF(NM_004333.4):c.837G>A (p.(Met279Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140801435C>T" "" "likely benign" "" "0000531002" "0" "70" "7" "140501287" "140501287" "subst" "0" "02327" "BRAF_000063" "g.140501287T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140801487T>G" "" "likely pathogenic" "" "0000531003" "0" "30" "7" "140549893" "140549893" "subst" "0.0001798" "02326" "BRAF_000065" "g.140549893T>C" "" "" "" "BRAF(NM_004333.4):c.240+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140850093T>C" "" "likely benign" "" "0000531007" "0" "30" "7" "140624508" "140624508" "subst" "0.000805835" "02327" "BRAF_000069" "g.140624508T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140924708T>C" "" "likely benign" "" "0000578293" "0" "50" "7" "140494190" "140494190" "subst" "0" "01164" "BRAF_000070" "g.140494190T>C" "" "" "" "" "ACMG grading: PM2" "Germline" "" "" "0" "" "" "g.140794390T>C" "" "VUS" "ACMG" "0000610872" "0" "70" "7" "140453192" "140453192" "subst" "0" "02327" "BRAF_000071" "g.140453192A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140753392A>C" "" "likely pathogenic" "" "0000610873" "0" "30" "7" "140534556" "140534556" "subst" "4.06246E-5" "01804" "BRAF_000017" "g.140534556G>A" "" "" "" "BRAF(NM_004333.4):c.357C>T (p.(=)), BRAF(NM_004333.6):c.357C>T (p.T119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140834756G>A" "" "likely benign" "" "0000610874" "0" "30" "7" "140624420" "140624425" "dup" "0" "01804" "BRAF_000073" "g.140624420_140624425dup" "" "" "" "BRAF(NM_004333.4):c.100_101insGCGCCG (p.(Gly32_Ala33dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140924620_140924625dup" "" "likely benign" "" "0000610875" "0" "50" "7" "140624440" "140624440" "subst" "0.00072318" "01943" "BRAF_000068" "g.140624440C>T" "" "" "" "BRAF(NM_004333.4):c.64G>A (p.D22N), BRAF(NM_004333.6):c.64G>A (p.D22N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140924640C>T" "" "VUS" "" "0000652195" "1" "90" "7" "140477795" "140477795" "subst" "0" "03575" "BRAF_000074" "g.140477795G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397507477}" "Germline" "" "rs397507477" "0" "" "" "g.140777995G>A" "" "pathogenic" "" "0000652196" "1" "70" "7" "140477866" "140477866" "subst" "0" "03575" "BRAF_000075" "g.140477866G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397516892}" "Germline" "" "rs397516892" "0" "" "" "g.140778066G>T" "" "likely pathogenic" "" "0000655768" "0" "10" "7" "140487403" "140487403" "subst" "0.000808943" "02330" "BRAF_000076" "g.140487403G>A" "" "" "" "BRAF(NM_001354609.2):c.1141-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140787603G>A" "" "benign" "" "0000667493" "0" "90" "7" "140477848" "140477848" "subst" "0" "00006" "BRAF_000077" "g.140477848A>C" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.140778048A>C" "" "pathogenic (dominant)" "ACMG" "0000678006" "0" "90" "7" "140477811" "140477811" "subst" "0" "02327" "BRAF_000079" "g.140477811T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678007" "0" "50" "7" "140482864" "140482864" "subst" "2.84319E-5" "02325" "BRAF_000080" "g.140482864C>T" "" "" "" "BRAF(NM_004333.6):c.1271G>A (p.R424Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678008" "0" "50" "7" "140487384" "140487384" "subst" "0" "01804" "BRAF_000081" "g.140487384C>T" "" "" "" "BRAF(NM_001354609.1):c.1141G>A (p.D381N), BRAF(NM_004333.4):c.1141G>A (p.(Asp381Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678009" "0" "50" "7" "140501235" "140501235" "subst" "0" "02327" "BRAF_000062" "g.140501235C>T" "" "" "" "BRAF(NM_004333.4):c.837G>A (p.(Met279Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678010" "0" "50" "7" "140534545" "140534545" "subst" "0" "02325" "BRAF_000083" "g.140534545G>A" "" "" "" "BRAF(NM_001354609.2):c.368C>T (p.S123F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678011" "0" "10" "7" "140624426" "140624426" "subst" "0.00239124" "02327" "BRAF_000019" "g.140624426C>A" "" "" "" "BRAF(NM_004333.4):c.78G>T (p.(Glu26Asp)), BRAF(NM_004333.6):c.78G>T (p.E26D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000682702" "0" "70" "7" "140500161" "140500161" "subst" "0" "03753" "BRAF_000082" "g.140500161C>T" "0.031" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000682715" "0" "70" "7" "140476881" "140476881" "subst" "4.06342E-6" "03753" "BRAF_000078" "g.140476881G>A" "0.04" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000721307" "0" "70" "7" "140434563" "140434563" "subst" "0" "02327" "BRAF_000084" "g.140434563G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721308" "0" "50" "7" "140449122" "140449122" "subst" "0" "02329" "BRAF_000052" "g.140449122G>A" "" "" "" "BRAF(NM_004333.6):c.1957C>T (p.Q653*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721309" "0" "90" "7" "140449165" "140449165" "subst" "0" "02329" "BRAF_000042" "g.140449165A>C" "" "" "" "BRAF(NM_004333.4):c.1914T>G (p.D638E), BRAF(NM_004333.6):c.1914T>G (p.D638E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721310" "0" "30" "7" "140476698" "140476698" "subst" "0.000296873" "02326" "BRAF_000085" "g.140476698C>T" "" "" "" "BRAF(NM_004333.4):c.1694+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721311" "0" "30" "7" "140494180" "140494180" "subst" "0.0002924" "02326" "BRAF_000086" "g.140494180T>C" "" "" "" "BRAF(NM_004333.4):c.1068A>G (p.Q356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721312" "0" "50" "7" "140494227" "140494227" "subst" "5.68537E-5" "02329" "BRAF_000072" "g.140494227G>C" "" "" "" "BRAF(NM_001354609.2):c.1021C>G (p.P341A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721313" "0" "30" "7" "140507763" "140507763" "subst" "0.000293375" "02326" "BRAF_000087" "g.140507763G>A" "" "" "" "BRAF(NM_004333.4):c.708C>T (p.N236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721314" "0" "50" "7" "140534519" "140534519" "subst" "0" "02325" "BRAF_000088" "g.140534519G>A" "" "" "" "BRAF(NM_004333.6):c.394C>T (p.P132S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721315" "0" "50" "7" "140624391" "140624391" "subst" "8.1638E-6" "02329" "BRAF_000066" "g.140624391G>A" "" "" "" "BRAF(NM_004333.6):c.113C>T (p.A38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763198" "1" "90" "7" "140453146" "140453146" "subst" "0" "00006" "BRAF_000089" "g.140453146G>C" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PS2, PS1, PM1" "De novo" "" "" "0" "" "" "g.140753346G>C" "" "pathogenic" "ACMG" "0000763218" "1" "70" "7" "140453990" "140453990" "subst" "0" "00006" "BRAF_000090" "g.140453990T>C" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.140754190T>C" "" "likely pathogenic" "ACMG" "0000786768" "0" "70" "7" "140449165" "140449165" "subst" "0" "00006" "BRAF_000042" "g.140449165A>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.140749365A>C" "" "likely pathogenic" "" "0000802963" "0" "90" "7" "140449165" "140449165" "subst" "0" "02327" "BRAF_000042" "g.140449165A>C" "" "" "" "BRAF(NM_004333.4):c.1914T>G (p.D638E), BRAF(NM_004333.6):c.1914T>G (p.D638E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802964" "0" "30" "7" "140508673" "140508673" "subst" "0.000301905" "02326" "BRAF_000091" "g.140508673C>G" "" "" "" "BRAF(NM_004333.4):c.608+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802965" "0" "50" "7" "140549946" "140549946" "subst" "8.13035E-6" "01943" "BRAF_000092" "g.140549946C>T" "" "" "" "BRAF(NM_001354609.1):c.205G>A (p.G69S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802966" "0" "30" "7" "140624426" "140624426" "subst" "0.00239124" "01804" "BRAF_000019" "g.140624426C>A" "" "" "" "BRAF(NM_004333.4):c.78G>T (p.(Glu26Asp)), BRAF(NM_004333.6):c.78G>T (p.E26D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802967" "0" "30" "7" "140624468" "140624468" "subst" "0.000737223" "01943" "BRAF_000093" "g.140624468C>T" "" "" "" "BRAF(NM_001354609.1):c.36G>A (p.A12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000814958" "0" "50" "7" "140500242" "140500242" "subst" "0" "04178" "BRAF_000094" "g.140500242T>G" "" "" "" "" "" "De novo" "?" "" "0" "" "" "" "" "VUS" "" "0000832701" "0" "90" "7" "140501351" "140501351" "subst" "0" "01164" "BRAF_000095" "g.140501351T>G" "" "PMID: 17704260, 18042262, 28404629, 19206169" "" "" "ACMG: PS2_VSTR, PS4_MOD, PM5, PM2_SUP, PP3" "Germline/De novo (untested)" "?" "" "" "" "" "" "VCV000029807.5" "pathogenic (dominant)" "ACMG" "0000851483" "0" "10" "7" "140434585" "140434585" "del" "0" "02325" "BRAF_000008" "g.140434585del" "" "" "" "BRAF(NM_004333.4):c.2128-5delT, BRAF(NM_004333.6):c.2128-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851484" "0" "10" "7" "140434585" "140434585" "dup" "0" "02325" "BRAF_000009" "g.140434585dup" "" "" "" "BRAF(NM_004333.4):c.2128-5dup (p.?), BRAF(NM_004333.4):c.2128-5dupT, BRAF(NM_004333.6):c.2128-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851485" "0" "50" "7" "140487384" "140487384" "subst" "0" "01943" "BRAF_000081" "g.140487384C>T" "" "" "" "BRAF(NM_001354609.1):c.1141G>A (p.D381N), BRAF(NM_004333.4):c.1141G>A (p.(Asp381Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860670" "0" "50" "7" "140439738" "140439738" "subst" "0" "02326" "BRAF_000096" "g.140439738A>T" "" "" "" "BRAF(NM_004333.4):c.2001T>A (p.F667L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860671" "0" "50" "7" "140476779" "140476779" "subst" "4.06312E-6" "02325" "BRAF_000097" "g.140476779T>C" "" "" "" "BRAF(NM_004333.6):c.1627A>G (p.I543V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000868944" "0" "90" "7" "140481403" "140481403" "subst" "0" "04322" "BRAF_000098" "g.140481403C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000887697" "0" "30" "7" "140434585" "140434585" "dup" "0" "02326" "BRAF_000009" "g.140434585dup" "" "" "" "BRAF(NM_004333.4):c.2128-5dup (p.?), BRAF(NM_004333.4):c.2128-5dupT, BRAF(NM_004333.6):c.2128-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887699" "0" "30" "7" "140487360" "140487360" "subst" "2.03169E-5" "02325" "BRAF_000100" "g.140487360G>A" "" "" "" "BRAF(NM_004333.6):c.1165C>T (p.R389C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887700" "0" "50" "7" "140500276" "140500276" "subst" "0" "02327" "BRAF_000101" "g.140500276A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912675" "0" "90" "7" "140453132" "140453132" "subst" "0" "02326" "BRAF_000102" "g.140453132T>G" "" "" "" "BRAF(NM_004333.4):c.1803A>C (p.K601N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912676" "0" "50" "7" "140494224" "140494224" "subst" "3.24907E-5" "01804" "BRAF_000016" "g.140494224T>C" "" "" "" "BRAF(NM_004333.4):c.1024A>G (p.(Ile342Val)), BRAF(NM_004333.6):c.1024A>G (p.I342V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924663" "0" "10" "7" "140426257" "140426257" "subst" "0.372195" "02330" "BRAF_000103" "g.140426257A>G" "" "" "" "BRAF(NM_001378468.1):c.2187T>C (p.S729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924664" "0" "90" "7" "140481405" "140481405" "subst" "4.06174E-6" "02327" "BRAF_000104" "g.140481405A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927948" "0" "70" "7" "140501279" "140501279" "subst" "0" "03779" "BRAF_000106" "g.140501279C>G" "" "" "" "" "" "Unknown" "" "rs397516905" "0" "" "" "" "" "likely pathogenic" "" "0000929303" "0" "70" "7" "140434507" "140434507" "subst" "0" "02327" "BRAF_000105" "g.140434507G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000939826" "0" "90" "7" "140449165" "140449165" "subst" "0" "00006" "BRAF_000107" "g.140449165A>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.140749365A>T" "" "pathogenic (dominant)" "" "0000948860" "0" "70" "7" "140477859" "140477859" "subst" "0" "02327" "BRAF_000108" "g.140477859T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948861" "0" "90" "7" "140501302" "140501302" "subst" "0" "02329" "BRAF_000002" "g.140501302T>C" "" "" "" "BRAF(NM_001374258.1):c.770A>G (p.Q257R), BRAF(NM_004333.6):c.770A>G (p.Q257R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964460" "0" "90" "7" "140453150" "140453150" "subst" "0" "02327" "BRAF_000109" "g.140453150A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964461" "0" "10" "7" "140481425" "140481425" "subst" "0.000861075" "02330" "BRAF_000033" "g.140481425T>C" "" "" "" "BRAF(NM_001374258.1):c.1503A>G (p.Q501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977541" "0" "50" "7" "140434564" "140434565" "ins" "0" "01804" "BRAF_000110" "g.140434564_140434565insA" "" "" "" "BRAF(NM_004333.6):c.2133_2134insT (p.(Ala712Cysfs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977542" "0" "50" "7" "140494126" "140494126" "subst" "0" "01804" "BRAF_000111" "g.140494126T>C" "" "" "" "BRAF(NM_004333.6):c.1122A>G (p.(Ile374Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985299" "0" "70" "7" "140454033" "140454033" "subst" "0" "03544" "BRAF_000112" "g.140454033A>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "g.140754233A>T" "{CV:2769805}" "pathogenic" "ACMG" "0000985478" "0" "70" "7" "140453136" "140453136" "subst" "0" "03544" "BRAF_000113" "g.140453136A>C" "" "" "" "" "" "Germline" "yes" "rs113488022" "0" "" "" "g.140753336A>C" "{CV:13961}" "pathogenic" "ACMG" "0000987922" "0" "50" "7" "140476721" "140476721" "subst" "0" "03779" "BRAF_000114" "g.140476721T>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs2129018160" "0" "" "" "" "" "VUS" "" "0000996234" "0" "30" "7" "140439609" "140439609" "subst" "0.000158519" "02325" "BRAF_000115" "g.140439609T>C" "" "" "" "BRAF(NM_004333.6):c.2127+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996235" "0" "30" "7" "140476895" "140476895" "subst" "1.21932E-5" "01804" "BRAF_000116" "g.140476895A>G" "" "" "" "BRAF(NM_004333.4):c.1518-7T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996236" "0" "50" "7" "140477830" "140477830" "subst" "0" "01804" "BRAF_000117" "g.140477830T>C" "" "" "" "BRAF(NM_004333.4):c.1478A>G (p.(Gln493Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996237" "0" "30" "7" "140482930" "140482930" "subst" "2.03135E-5" "01804" "BRAF_000118" "g.140482930G>T" "" "" "" "BRAF(NM_004333.4):c.1205C>A (p.(Pro402His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996238" "0" "50" "7" "140507867" "140507867" "subst" "0" "01804" "BRAF_000119" "g.140507867A>G" "" "" "" "BRAF(NM_004333.4):c.609-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996239" "0" "50" "7" "140549970" "140549970" "subst" "0" "01804" "BRAF_000120" "g.140549970T>C" "" "" "" "BRAF(NM_004333.4):c.181A>G (p.(Ile61Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996240" "0" "50" "7" "140624414" "140624425" "del" "0" "01804" "BRAF_000121" "g.140624414_140624425del" "" "" "" "BRAF(NM_004333.4):c.89_100delGCGCCGGCGCCG (p.(Gly30_Ala33del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996241" "0" "30" "7" "140624420" "140624425" "del" "0" "01804" "BRAF_000122" "g.140624420_140624425del" "" "" "" "BRAF(NM_004333.4):c.95_100delGCGCCG (p.(Gly32_Ala33del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996242" "0" "30" "7" "140624463" "140624463" "subst" "0" "01804" "BRAF_000123" "g.140624463G>A" "" "" "" "BRAF(NM_004333.4):c.41C>T (p.(Pro14Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014310" "0" "90" "7" "140453136" "140453136" "subst" "0" "02327" "BRAF_000113" "g.140453136A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014311" "0" "50" "7" "140476749" "140476749" "subst" "8.1275E-6" "02325" "BRAF_000124" "g.140476749G>A" "" "" "" "BRAF(NM_004333.6):c.1657C>T (p.L553F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014312" "0" "70" "7" "140481417" "140481417" "subst" "0" "02325" "BRAF_000125" "g.140481417C>G" "" "" "" "BRAF(NM_004333.6):c.1391G>C (p.G464A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014313" "0" "30" "7" "140487360" "140487360" "subst" "2.03169E-5" "02327" "BRAF_000100" "g.140487360G>A" "" "" "" "BRAF(NM_004333.6):c.1165C>T (p.R389C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014314" "0" "90" "7" "140501302" "140501302" "subst" "0" "02325" "BRAF_000002" "g.140501302T>C" "" "" "" "BRAF(NM_001374258.1):c.770A>G (p.Q257R), BRAF(NM_004333.6):c.770A>G (p.Q257R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001017576" "3" "70" "7" "140453115" "140453115" "subst" "0" "03544" "BRAF_000126" "g.140453115G>A" "" "" "" "" "" "Germline" "yes" "rs1255101216" "0" "" "" "g.140753315G>A" "{CV:977327}" "likely pathogenic (recessive)" "ACMG" "0001018827" "0" "70" "7" "140454006" "140454006" "subst" "0" "03544" "BRAF_000127" "g.140454006G>C" "" "" "" "" "" "Germline" "yes" "rs397507481" "0" "" "" "g.140754206G>C" "{CV:40384}" "likely pathogenic" "ACMG" "0001025351" "0" "90" "7" "140481402" "140481402" "subst" "4.06184E-6" "02327" "BRAF_000128" "g.140481402C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025352" "0" "50" "7" "140494106" "140494106" "subst" "0" "02325" "BRAF_000129" "g.140494106A>T" "" "" "" "BRAF(NM_004333.6):c.1140+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025353" "0" "50" "7" "140494209" "140494209" "subst" "0" "02369" "BRAF_000130" "g.140494209G>A" "" "" "" "BRAF(NM_004333.4):c.1039C>T (p.R347*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029395" "0" "90" "7" "140453136" "140453136" "subst" "0" "03779" "BRAF_000001" "g.140453136A>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs113488022" "0" "" "" "" "" "pathogenic" "" "0001030149" "0" "90" "7" "140481397" "140481397" "subst" "0" "03544" "BRAF_000131" "g.140481397C>A" "" "" "" "" "" "Germline" "-" "rs121913376" "0" "" "" "g.140781597C>A" "{CV:40367}" "pathogenic" "ACMG" "0001030925" "0" "90" "7" "140481402" "140481402" "subst" "0" "03544" "BRAF_000132" "g.140481402C>T" "" "" "" "" "" "De novo" "-" "rs121913355" "0" "" "" "g.140781602C>T" "{CV:13974}" "pathogenic" "ACMG" "0001036160" "0" "30" "7" "140426170" "140426170" "subst" "0" "01804" "BRAF_000133" "g.140426170G>A" "" "" "" "BRAF(NM_001378468.1):c.2274C>T (p.(Ser758=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036161" "0" "50" "7" "140508688" "140508688" "subst" "8.14147E-6" "01804" "BRAF_000134" "g.140508688A>G" "" "" "" "BRAF(NM_004333.6):c.608+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036162" "0" "50" "7" "140624440" "140624440" "subst" "0.00072318" "02325" "BRAF_000068" "g.140624440C>T" "" "" "" "BRAF(NM_004333.4):c.64G>A (p.D22N), BRAF(NM_004333.6):c.64G>A (p.D22N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047166" "0" "70" "7" "140477806" "140477806" "subst" "0" "03820" "BRAF_000135" "g.140477806T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.140778006T>C" "" "pathogenic" "ACMG" "0001047526" "0" "70" "7" "140453127" "140453136" "delins" "0" "03779" "BRAF_000136" "g.140453127_140453136delinsTGAGATTTCT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001048119" "0" "90" "7" "140453154" "140453154" "subst" "0" "03779" "BRAF_000137" "g.140453154T>C" "" "" "" "" "" "Unknown" "" "rs121913338" "0" "" "" "" "" "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 BRAF ## Count = 159 "{{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}}" "0000061746" "00003475" "70" "1799" "0" "1799" "0" "c.1799T>A" "r.(?)" "p.(Val600Glu)" "0" "0000062043" "00003475" "90" "1799" "0" "1799" "0" "c.1799T>A" "r.(=)" "p.(Val600Glu)" "" "0000071913" "00003475" "70" "770" "0" "770" "0" "c.770A>G" "r.?=" "p.(Gln257Arg)" "6" "0000079441" "00003475" "00" "1802" "0" "1802" "0" "c.1802A>T" "r.(?)" "p.(Lys601Ile)" "" "0000079588" "00003475" "00" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Cys532Tyr)" "" "0000246608" "00003475" "10" "1315" "-18" "1315" "-18" "c.1315-18T>G" "r.(=)" "p.(=)" "" "0000252147" "00003475" "30" "2128" "-5" "2128" "-5" "c.2128-5del" "r.spl?" "p.?" "" "0000252465" "00003475" "90" "1914" "0" "1914" "0" "c.1914T>G" "r.(?)" "p.(Asp638Glu)" "" "0000258689" "00003475" "30" "1024" "0" "1024" "0" "c.1024A>G" "r.(?)" "p.(Ile342Val)" "" "0000258690" "00003475" "10" "1227" "0" "1227" "0" "c.1227A>G" "r.(?)" "p.(Ser409=)" "" "0000258691" "00003475" "10" "1992" "16" "1992" "16" "c.1992+16G>C" "r.(=)" "p.(=)" "" "0000258693" "00003475" "10" "2128" "-5" "2128" "-5" "c.2128-5dup" "r.spl?" "p.?" "" "0000258695" "00003475" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Thr119=)" "" "0000258696" "00003475" "10" "78" "0" "78" "0" "c.78G>T" "r.(?)" "p.(Glu26Asp)" "" "0000260410" "00003475" "90" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Thr241Met)" "" "0000261489" "00003475" "30" "2128" "-4" "2128" "-4" "c.2128-4G>T" "r.spl?" "p.?" "" "0000263742" "00003475" "30" "1227" "0" "1227" "0" "c.1227A>G" "r.(?)" "p.(Ser409=)" "" "0000331904" "00003475" "50" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558Gln)" "" "0000331905" "00003475" "30" "1429" "0" "1429" "0" "c.1429C>T" "r.(?)" "p.(His477Tyr)" "" "0000331906" "00003475" "50" "261" "0" "261" "0" "c.261C>G" "r.(?)" "p.(Ser87Arg)" "" "0000337201" "00003475" "30" "1861" "-7" "1861" "-7" "c.1861-7C>G" "r.(=)" "p.(=)" "" "0000337202" "00003475" "30" "1433" "-19" "1433" "-19" "c.1433-19A>G" "r.(=)" "p.(=)" "" "0000339425" "00003475" "10" "1383" "0" "1383" "0" "c.1383A>G" "r.(?)" "p.(Gln461=)" "" "0000342450" "00003475" "50" "778" "0" "778" "0" "c.778C>G" "r.(?)" "p.(Arg260Gly)" "" "0000342732" "00003475" "70" "1085" "0" "1085" "0" "c.1085G>A" "r.(?)" "p.(Arg362Gln)" "" "0000342779" "00003475" "30" "1150" "0" "1150" "0" "c.1150A>G" "r.(?)" "p.(Arg384Gly)" "" "0000343301" "00003475" "50" "2156" "0" "2156" "0" "c.2156G>A" "r.(?)" "p.(Arg719His)" "" "0000343790" "00003475" "90" "1741" "0" "1741" "0" "c.1741A>G" "r.(?)" "p.(Asn581Asp)" "" "0000344143" "00003475" "90" "1781" "0" "1781" "0" "c.1781A>T" "r.(?)" "p.(Asp594Val)" "" "0000344708" "00003475" "90" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(Gln257Arg)" "" "0000344709" "00003475" "90" "769" "0" "769" "0" "c.769C>A" "r.(?)" "p.(Gln257Lys)" "" "0000346095" "00003475" "90" "1391" "0" "1391" "0" "c.1391G>T" "r.(?)" "p.(Gly464Val)" "" "0000346181" "00003475" "90" "1787" "0" "1787" "0" "c.1787G>T" "r.(?)" "p.(Gly596Val)" "" "0000347236" "00003475" "70" "1729" "0" "1729" "0" "c.1729C>A" "r.(?)" "p.(Leu577Ile)" "" "0000347589" "00003475" "90" "1495" "0" "1495" "0" "c.1495A>G" "r.(?)" "p.(Lys499Glu)" "" "0000348004" "00003475" "70" "741" "0" "741" "0" "c.741T>G" "r.(?)" "p.(Phe247Leu)" "" "0000349382" "00003475" "90" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Thr241Met)" "" "0000349823" "00003475" "50" "1591" "0" "1591" "0" "c.1591T>C" "r.(?)" "p.(Trp531Arg)" "" "0000350160" "00003475" "50" "1897" "0" "1897" "0" "c.1897T>C" "r.(?)" "p.(Tyr633His)" "" "0000350912" "00003475" "10" "1315" "-18" "1315" "-18" "c.1315-18T>G" "r.(=)" "p.(=)" "" "0000350913" "00003475" "30" "139" "-12" "139" "-12" "c.139-12A>C" "r.(=)" "p.(=)" "" "0000465657" "00003475" "70" "1799" "0" "1799" "0" "c.1799T>A" "r.(?)" "p.(Val600Glu)" "" "0000465658" "00003475" "70" "1799" "0" "1799" "0" "c.1799T>A" "r.(?)" "p.(Val600Glu)" "" "0000465659" "00003475" "70" "1799" "0" "1799" "0" "c.1799T>A" "r.(?)" "p.(Val600Glu)" "" "0000465660" "00003475" "70" "1799" "0" "1799" "0" "c.1799T>A" "r.(?)" "p.(Val600Glu)" "" "0000465661" "00003475" "70" "1799" "0" "1799" "0" "c.1799T>A" "r.(?)" "p.(Val600Glu)" "" "0000466826" "00003475" "70" "1518" "0" "1526" "0" "c.1518_1526dup" "r.(?)" "p.(Lys507_Arg509dup)" "" "0000530979" "00003475" "30" "2128" "-5" "2128" "-4" "c.2128-5_2128-4insTTTTTTTTTTTTTTTTTTTT" "r.spl?" "p.?" "" "0000530980" "00003475" "10" "2128" "-5" "2128" "-5" "c.2128-5del" "r.spl?" "p.?" "" "0000530981" "00003475" "10" "2128" "-5" "2128" "-5" "c.2128-5del" "r.spl?" "p.?" "" "0000530983" "00003475" "30" "2128" "-5" "2128" "-5" "c.2128-5dup" "r.spl?" "p.?" "" "0000530984" "00003475" "30" "2128" "-5" "2128" "-5" "c.2128-5dup" "r.spl?" "p.?" "" "0000530985" "00003475" "30" "2128" "-23" "2128" "-17" "c.2128-23_2128-17dup" "r.(=)" "p.(=)" "" "0000530986" "00003475" "30" "2128" "-17" "2128" "-16" "c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTT" "r.(=)" "p.(=)" "" "0000530987" "00003475" "30" "2128" "-17" "2128" "-16" "c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTTT" "r.(=)" "p.(=)" "" "0000530988" "00003475" "10" "2128" "-17" "2128" "-17" "c.2128-17dup" "r.(=)" "p.(=)" "" "0000530989" "00003475" "10" "2128" "-27" "2128" "-18" "c.2128-27_2128-18del" "r.(=)" "p.(=)" "" "0000530990" "00003475" "10" "1993" "-10" "1993" "-10" "c.1993-10dup" "r.(=)" "p.(=)" "" "0000530992" "00003475" "10" "1929" "0" "1929" "0" "c.1929A>G" "r.(?)" "p.(Gly643=)" "" "0000530994" "00003475" "90" "1741" "0" "1741" "0" "c.1741A>G" "r.(?)" "p.(Asn581Asp)" "" "0000530995" "00003475" "50" "1505" "0" "1505" "0" "c.1505T>A" "r.(?)" "p.(Val502Glu)" "" "0000530996" "00003475" "50" "1490" "0" "1490" "0" "c.1490C>T" "r.(?)" "p.(Ala497Val)" "" "0000530997" "00003475" "30" "1433" "-19" "1433" "-19" "c.1433-19A>G" "r.(=)" "p.(=)" "" "0000530998" "00003475" "90" "1390" "0" "1390" "0" "c.1390G>A" "r.(?)" "p.(Gly464Arg)" "" "0000530999" "00003475" "30" "1332" "0" "1332" "0" "c.1332G>A" "r.(?)" "p.(Arg444=)" "" "0000531000" "00003475" "30" "1002" "0" "1002" "0" "c.1002G>A" "r.(?)" "p.(Pro334=)" "" "0000531001" "00003475" "30" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Met279Ile)" "" "0000531002" "00003475" "70" "785" "0" "785" "0" "c.785A>C" "r.(?)" "p.(Gln262Pro)" "" "0000531003" "00003475" "30" "240" "18" "240" "18" "c.240+18A>G" "r.(=)" "p.(=)" "" "0000531007" "00003475" "30" "-5" "0" "-5" "0" "c.-5A>G" "r.(?)" "p.(=)" "" "0000578293" "00003475" "50" "1058" "0" "1058" "0" "c.1058A>G" "r.(?)" "p.His353Arg" "" "0000610872" "00003475" "70" "1743" "0" "1743" "0" "c.1743T>G" "r.(?)" "p.(Asn581Lys)" "" "0000610873" "00003475" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Thr119=)" "" "0000610874" "00003475" "30" "95" "0" "100" "0" "c.95_100dup" "r.(?)" "p.(Gly32_Ala33dup)" "" "0000610875" "00003475" "50" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Asp22Asn)" "" "0000652195" "00003475" "90" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(Leu505Phe)" "" "0000652196" "00003475" "70" "1442" "0" "1442" "0" "c.1442C>A" "r.(?)" "p.(Ala481Glu)" "" "0000655768" "00003475" "10" "1141" "-19" "1141" "-19" "c.1141-19C>T" "r.(=)" "p.(=)" "" "0000667493" "00003475" "90" "1460" "0" "1460" "0" "c.1460T>G" "r.(?)" "p.(Val487Gly)" "" "0000678006" "00003475" "90" "1497" "0" "1497" "0" "c.1497A>C" "r.(?)" "p.(Lys499Asn)" "" "0000678007" "00003475" "50" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Arg424Gln)" "" "0000678008" "00003475" "50" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Asp381Asn)" "" "0000678009" "00003475" "50" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Met279Ile)" "" "0000678010" "00003475" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Phe)" "" "0000678011" "00003475" "10" "78" "0" "78" "0" "c.78G>T" "r.(?)" "p.(Glu26Asp)" "" "0000682702" "00003475" "70" "980" "1" "980" "1" "c.980+1G>A" "r.spl?" "p.?" "" "0000682715" "00003475" "70" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509*)" "" "0000721307" "00003475" "70" "2135" "0" "2135" "0" "c.2135C>A" "r.(?)" "p.(Ala712Asp)" "" "0000721308" "00003475" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Gln653Ter)" "" "0000721309" "00003475" "90" "1914" "0" "1914" "0" "c.1914T>G" "r.(?)" "p.(Asp638Glu)" "" "0000721310" "00003475" "30" "1694" "14" "1694" "14" "c.1694+14G>A" "r.(=)" "p.(=)" "" "0000721311" "00003475" "30" "1068" "0" "1068" "0" "c.1068A>G" "r.(?)" "p.(Gln356=)" "" "0000721312" "00003475" "50" "1021" "0" "1021" "0" "c.1021C>G" "r.(?)" "p.(Pro341Ala)" "" "0000721313" "00003475" "30" "708" "0" "708" "0" "c.708C>T" "r.(?)" "p.(Asn236=)" "" "0000721314" "00003475" "50" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Pro132Ser)" "" "0000721315" "00003475" "50" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Ala38Val)" "" "0000763198" "00003475" "90" "1789" "0" "1789" "0" "c.1789C>G" "r.(?)" "p.(Leu597Val)" "" "0000763218" "00003475" "70" "1738" "0" "1738" "0" "c.1738A>G" "r.(?)" "p.(Asn580Asp)" "" "0000786768" "00003475" "70" "1914" "0" "1914" "0" "c.1914T>G" "r.(?)" "p.(Asp638Glu)" "16" "0000802963" "00003475" "90" "1914" "0" "1914" "0" "c.1914T>G" "r.(?)" "p.(Asp638Glu)" "" "0000802964" "00003475" "30" "608" "19" "608" "19" "c.608+19G>C" "r.(=)" "p.(=)" "" "0000802965" "00003475" "50" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Gly69Ser)" "" "0000802966" "00003475" "30" "78" "0" "78" "0" "c.78G>T" "r.(?)" "p.(Glu26Asp)" "" "0000802967" "00003475" "30" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Ala12=)" "" "0000814958" "00003475" "50" "900" "0" "900" "0" "c.900A>C" "r.(=)" "p.(=)" "" "0000832701" "00003475" "90" "721" "0" "721" "0" "c.721A>C" "r.(?)" "p.(Thr241Pro)" "" "0000851483" "00003475" "10" "2128" "-5" "2128" "-5" "c.2128-5del" "r.spl?" "p.?" "" "0000851484" "00003475" "10" "2128" "-5" "2128" "-5" "c.2128-5dup" "r.spl?" "p.?" "" "0000851485" "00003475" "50" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Asp381Asn)" "" "0000860670" "00003475" "50" "2001" "0" "2001" "0" "c.2001T>A" "r.(?)" "p.(Phe667Leu)" "" "0000860671" "00003475" "50" "1627" "0" "1627" "0" "c.1627A>G" "r.(?)" "p.(Ile543Val)" "" "0000868944" "00003475" "90" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Gly469Arg)" "" "0000887697" "00003475" "30" "2128" "-5" "2128" "-5" "c.2128-5dup" "r.spl?" "p.?" "" "0000887699" "00003475" "30" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389Cys)" "" "0000887700" "00003475" "50" "866" "0" "866" "0" "c.866T>A" "r.(?)" "p.(Leu289Gln)" "" "0000912675" "00003475" "90" "1803" "0" "1803" "0" "c.1803A>C" "r.(?)" "p.(Lys601Asn)" "" "0000912676" "00003475" "50" "1024" "0" "1024" "0" "c.1024A>G" "r.(?)" "p.(Ile342Val)" "" "0000924663" "00003475" "10" "10441" "0" "10441" "0" "c.*8140T>C" "r.(=)" "p.(=)" "" "0000924664" "00003475" "90" "1403" "0" "1403" "0" "c.1403T>C" "r.(?)" "p.(Phe468Ser)" "" "0000927948" "00003475" "70" "793" "0" "793" "0" "c.793G>C" "r.(?)" "p.(Gly265Arg)" "" "0000929303" "00003475" "70" "2191" "0" "2191" "0" "c.2191C>T" "r.(?)" "p.(Pro731Ser)" "" "0000939826" "00003475" "90" "1914" "0" "1914" "0" "c.1914T>A" "r.(?)" "p.(Asp638Glu)" "16" "0000948860" "00003475" "70" "1449" "0" "1449" "0" "c.1449A>T" "r.(?)" "p.(Lys483Asn)" "" "0000948861" "00003475" "90" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(Gln257Arg)" "" "0000964460" "00003475" "90" "1785" "0" "1785" "0" "c.1785T>G" "r.(?)" "p.(Phe595Leu)" "" "0000964461" "00003475" "10" "1383" "0" "1383" "0" "c.1383A>G" "r.(?)" "p.(Gln461=)" "" "0000977541" "00003475" "50" "2133" "0" "2134" "0" "c.2133_2134insT" "r.(?)" "p.(Ala712Cysfs*4)" "" "0000977542" "00003475" "50" "1122" "0" "1122" "0" "c.1122A>G" "r.(?)" "p.(Ile374Met)" "" "0000985299" "00003475" "70" "1695" "0" "1695" "0" "c.1695T>A" "r.(?)" "p.(Asp565Glu)" "14" "0000985478" "00003475" "70" "1799" "0" "1799" "0" "c.1799T>G" "r.(?)" "p.(Val600Gly)" "15" "0000987922" "00003475" "50" "1685" "0" "1685" "0" "c.1685A>T" "r.(?)" "p.(Gln562Leu)" "" "0000996234" "00003475" "30" "2127" "3" "2127" "3" "c.2127+3A>G" "r.spl?" "p.?" "" "0000996235" "00003475" "30" "1518" "-7" "1518" "-7" "c.1518-7T>C" "r.(=)" "p.(=)" "" "0000996236" "00003475" "50" "1478" "0" "1478" "0" "c.1478A>G" "r.(?)" "p.(Gln493Arg)" "" "0000996237" "00003475" "30" "1205" "0" "1205" "0" "c.1205C>A" "r.(?)" "p.(Pro402His)" "" "0000996238" "00003475" "50" "609" "-5" "609" "-5" "c.609-5T>C" "r.spl?" "p.?" "" "0000996239" "00003475" "50" "181" "0" "181" "0" "c.181A>G" "r.(?)" "p.(Ile61Val)" "" "0000996240" "00003475" "50" "89" "0" "100" "0" "c.89_100del" "r.(?)" "p.(Gly30_Ala33del)" "" "0000996241" "00003475" "30" "95" "0" "100" "0" "c.95_100del" "r.(?)" "p.(Gly32_Ala33del)" "" "0000996242" "00003475" "30" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Pro14Leu)" "" "0001014310" "00003475" "90" "1799" "0" "1799" "0" "c.1799T>G" "r.(?)" "p.(Val600Gly)" "" "0001014311" "00003475" "50" "1657" "0" "1657" "0" "c.1657C>T" "r.(?)" "p.(Leu553Phe)" "" "0001014312" "00003475" "70" "1391" "0" "1391" "0" "c.1391G>C" "r.(?)" "p.(Gly464Ala)" "" "0001014313" "00003475" "30" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389Cys)" "" "0001014314" "00003475" "90" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(Gln257Arg)" "" "0001017576" "00003475" "70" "1820" "0" "1820" "0" "c.1820C>T" "r.(1820C>T)" "p.(Ser607Phe)" "15" "0001018827" "00003475" "70" "1722" "0" "1722" "0" "c.1722C>G" "r.(?)" "p.(His574Gln)" "14" "0001025351" "00003475" "90" "1406" "0" "1406" "0" "c.1406G>C" "r.(?)" "p.(Gly469Ala)" "" "0001025352" "00003475" "50" "1140" "2" "1140" "2" "c.1140+2T>A" "r.spl?" "p.?" "" "0001025353" "00003475" "50" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347*)" "" "0001029395" "00003475" "90" "1799" "0" "1799" "0" "c.1799T>A" "r.(?)" "p.(Val600Glu)" "" "0001030149" "00003475" "90" "1411" "0" "1411" "0" "c.1411G>T" "r.(?)" "p.(Val471Phe)" "11" "0001030925" "00003475" "90" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Gly469Glu)" "11" "0001036160" "00003475" "30" "10528" "0" "10528" "0" "c.*8227C>T" "r.(=)" "p.(=)" "" "0001036161" "00003475" "50" "608" "4" "608" "4" "c.608+4T>C" "r.spl?" "p.?" "" "0001036162" "00003475" "50" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Asp22Asn)" "" "0001047166" "00003475" "70" "1502" "0" "1502" "0" "c.1502A>G" "r.(?)" "p.(Glu501Gly)" "" "0001047526" "00003475" "70" "1799" "0" "1808" "0" "c.1799_1808delinsAGAAATCTCA" "r.(?)" "p.(Val600_Arg603delinsGluLysSerGln)" "" "0001048119" "00003475" "90" "1781" "0" "1781" "0" "c.1781A>G" "r.(?)" "p.(Asp594Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000034629" "0000061746" "0000034924" "0000062043" "0000044099" "0000071913" "0000050461" "0000079441" "0000050608" "0000079588" "0000227416" "0000465657" "0000227417" "0000465658" "0000227418" "0000465659" "0000227419" "0000465660" "0000227420" "0000465661" "0000227427" "0000466826" "0000249506" "0000578293" "0000295506" "0000652195" "0000295507" "0000652196" "0000304095" "0000667493" "0000308396" "0000682702" "0000308399" "0000682715" "0000362824" "0000763198" "0000362844" "0000763218" "0000375417" "0000786768" "0000387100" "0000814958" "0000399995" "0000832701" "0000411693" "0000868944" "0000441884" "0000939826" "0000451422" "0000985299" "0000451573" "0000985478" "0000459528" "0001017576" "0000459882" "0001018827" "0000466247" "0001030149" "0000466891" "0001030925" "0000467830" "0001047166"