### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FRAS1) # 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}}" "FRAS1" "Fraser syndrome 1" "4" "q21" "unknown" "NG_015812.1" "UD_132118556634" "" "https://www.LOVD.nl/FRAS1" "" "1" "19185" "0" "607830" "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/FRAS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2017-01-08 12:57:50" "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}}" "00000038" "FRAS1" "Fraser syndrome 1, transcript variant 1" "001" "NM_025074.6" "" "NP_079350.5" "" "" "" "-440" "15184" "12039" "78978724" "79465423" "00002" "2012-05-11 13:11:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00605" "FRASRS1" "Fraser syndrome" "AR" "219000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FRAS1" "00139" "FRAS1" "00605" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00000087" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00095117" "" "" "" "1" "" "01586" "" "" "?" "no" "" "" "0" "Yes" "" "" "" "00183067" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio70" "00293663" "" "" "" "47" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293664" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293665" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293666" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293667" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293668" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295478" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00317992" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR86" "00319925" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Pakistan" "" "0" "" "" "Punjabi" "PKMR69" "00374130" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "M" "" "France" "" "0" "" "" "" "" "00416249" "" "" "" "1" "" "00006" "{PMID:Monroe 2016:26845106}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat14" "00462308" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "analysis 101 stillborn fetuses with severe prenatal anoalies" "" "" "Canada" "0d" "0" "" "" "" "051-102-OHU" "00468920" "" "" "" "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 = 15 "{{individualid}}" "{{diseaseid}}" "00095117" "00605" "00183067" "00139" "00293663" "00198" "00293664" "00198" "00293665" "00198" "00293666" "00198" "00293667" "00198" "00293668" "00198" "00295478" "00198" "00317992" "00139" "00319925" "00139" "00374130" "00198" "00416249" "00198" "00462308" "00198" "00468920" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00605 ## Count = 8 "{{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}}" "0000073512" "00605" "00095117" "01586" "Familial, autosomal recessive" "" "Bilateral renal agenesis" "" "" "" "" "" "" "" "" "" "" "" "0000143820" "00139" "00183067" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000241776" "00139" "00317992" "00006" "Familial, autosomal recessive" "" "Moderate to severe ID, non-inflammatory muscular dystrophy, motor system problem" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000242027" "00139" "00319925" "00006" "Familial, autosomal recessive" "" "mild intellectual disability, speech delay, spasticity, squint, abnormal dentition, Delayed developmental milestone" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269341" "00198" "00374130" "00006" "Unknown" "<0d" "16w-fetus, ultrasound Distended bladder; autopsy Tracheal atresia, anal atresia, uretral atresia, bilateral renal dysplasia" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000308016" "00198" "00416249" "00006" "Isolated (sporadic)" "12y10m" "macrocephaly (+2.5 SD), hypertelorism, remarkable hyperlaxity of the\r\nfinger joints, and relatively small ears; fused cervical vertebrae C2-C6,\r\nbilateral total tarsal coalition, and psychomotor retardation; MRI brain Chiari 1 malformation; conductive hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000349807" "00198" "00462308" "00006" "Familial, autosomal recessive" "" "20gw-cryptophthalmos, syndactyly, short pharynx with hypoplasia epiglottis, renal agenesis, vaginal atresia" "" "" "" "" "" "" "" "" "" "multiple neonatal malformations" "" "0000354073" "00198" "00468920" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the genitourinary system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000087" "00000087" "1" "00004" "" "2012-05-11 13:19:14" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000095515" "00095117" "1" "01586" "01586" "2017-01-06 13:23:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000184027" "00183067" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000294831" "00293663" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294832" "00293664" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294833" "00293665" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294834" "00293666" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294835" "00293667" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294836" "00293668" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296646" "00295478" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319174" "00317992" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000321106" "00319925" "1" "00006" "00006" "2020-11-10 17:13:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000375323" "00374130" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000417529" "00416249" "1" "00006" "00006" "2022-08-25 21:19:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000463940" "00462308" "1" "00006" "00006" "2025-02-09 09:45:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470588" "00468920" "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 = 15 "{{screeningid}}" "{{geneid}}" "0000000087" "AHI1" "0000000087" "ATP7B" "0000000087" "BTD" "0000000087" "CYP21A2" "0000000087" "ETFB" "0000000087" "FRAS1" "0000000087" "GLB1" "0000000087" "IGHMBP2" "0000000087" "NHLRC1" "0000000087" "SERPINA1" "0000000087" "SLC26A2" "0000319174" "FRAS1" "0000321106" "EXOSC8" "0000321106" "FRAS1" "0000375323" "FRAS1" ## 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 = 646 "{{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}}" "0000001008" "0" "50" "4" "79400782" "79400782" "del" "0" "00002" "FRAS1_000001" "g.79400782del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.78479628del" "" "VUS" "" "0000154084" "11" "90" "4" "79362314" "79362314" "subst" "0" "01586" "FRAS1_000002" "g.79362314A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.78441160A>C" "" "likely pathogenic" "" "0000154087" "21" "70" "4" "79368034" "79368034" "subst" "0" "01586" "FRAS1_000003" "g.79368034G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.78446880G>A" "" "likely pathogenic" "" "0000248190" "0" "10" "4" "79387586" "79387586" "subst" "0.297836" "02325" "FRAS1_000178" "g.79387586A>G" "" "" "" "FRAS1(NM_025074.7):c.7254A>G (p.K2418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78466432A>G" "" "benign" "" "0000248191" "0" "10" "4" "79432455" "79432455" "subst" "0.322358" "02325" "FRAS1_000293" "g.79432455A>C" "" "" "" "FRAS1(NM_025074.7):c.9808A>C (p.R3270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78511301A>C" "" "benign" "" "0000248210" "0" "10" "4" "78987157" "78987157" "subst" "0.446774" "02325" "FRAS1_000009" "g.78987157A>G" "" "" "" "FRAS1(NM_025074.7):c.95A>G (p.D32G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78066003A>G" "" "benign" "" "0000248211" "0" "10" "4" "79240063" "79240063" "subst" "0.412279" "02325" "FRAS1_000072" "g.79240063A>G" "" "" "" "FRAS1(NM_025074.7):c.2060A>G (p.D687G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78318909A>G" "" "benign" "" "0000248218" "0" "10" "4" "79387464" "79387464" "subst" "0.991309" "02325" "FRAS1_000177" "g.79387464A>G" "" "" "" "FRAS1(NM_025074.7):c.7132A>G (p.K2378E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78466310A>G" "" "benign" "" "0000250893" "0" "10" "4" "79387586" "79387586" "subst" "0.297836" "02326" "FRAS1_000178" "g.79387586A>G" "" "" "" "FRAS1(NM_025074.7):c.7254A>G (p.K2418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78466432A>G" "" "benign" "" "0000250894" "0" "10" "4" "79432455" "79432455" "subst" "0.322358" "02326" "FRAS1_000293" "g.79432455A>C" "" "" "" "FRAS1(NM_025074.7):c.9808A>C (p.R3270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78511301A>C" "" "benign" "" "0000250913" "0" "10" "4" "78987157" "78987157" "subst" "0.446774" "02326" "FRAS1_000009" "g.78987157A>G" "" "" "" "FRAS1(NM_025074.7):c.95A>G (p.D32G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78066003A>G" "" "benign" "" "0000250914" "0" "10" "4" "79240063" "79240063" "subst" "0.412279" "02326" "FRAS1_000072" "g.79240063A>G" "" "" "" "FRAS1(NM_025074.7):c.2060A>G (p.D687G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78318909A>G" "" "benign" "" "0000250921" "0" "10" "4" "79387464" "79387464" "subst" "0.991309" "02326" "FRAS1_000177" "g.79387464A>G" "" "" "" "FRAS1(NM_025074.7):c.7132A>G (p.K2378E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78466310A>G" "" "benign" "" "0000251065" "0" "10" "4" "79166478" "79166478" "subst" "0.0105771" "02326" "FRAS1_000021" "g.79166478A>T" "" "" "" "FRAS1(NM_001166133.1):c.308A>T (p.(Glu103Val)), FRAS1(NM_025074.7):c.308A>T (p.E103V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78245324A>T" "" "benign" "" "0000251067" "0" "10" "4" "79443837" "79443837" "subst" "0.135241" "02326" "FRAS1_000264" "g.79443837A>T" "" "" "" "FRAS1(NM_025074.7):c.10683A>T (p.E3561D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78522683A>T" "" "benign" "" "0000251166" "0" "10" "4" "79295373" "79295373" "subst" "0" "02326" "FRAS1_000103" "g.79295373A>C" "" "" "" "FRAS1(NM_025074.7):c.3119A>C (p.Y1040S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78374219A>C" "" "benign" "" "0000251313" "0" "10" "4" "78987284" "78987284" "subst" "0" "02326" "FRAS1_000285" "g.78987284A>C" "" "" "" "FRAS1(NM_025074.7):c.108+114A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78066130A>C" "" "benign" "" "0000251314" "0" "10" "4" "78987328" "78987328" "subst" "0" "02326" "FRAS1_000012" "g.78987328A>G" "" "" "" "FRAS1(NM_025074.7):c.108+158A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78066174A>G" "" "benign" "" "0000251315" "0" "10" "4" "79186384" "79186384" "subst" "0" "02326" "FRAS1_000034" "g.79186384A>G" "" "" "" "FRAS1(NM_025074.7):c.687+122A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78265230A>G" "" "benign" "" "0000251316" "0" "10" "4" "79186389" "79186389" "subst" "0" "02326" "FRAS1_000035" "g.79186389A>G" "" "" "" "FRAS1(NM_025074.7):c.687+127A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78265235A>G" "" "benign" "" "0000251317" "0" "10" "4" "79202486" "79202486" "subst" "0" "02326" "FRAS1_000286" "g.79202486A>G" "" "" "" "FRAS1(NM_025074.7):c.1072-66A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78281332A>G" "" "benign" "" "0000251318" "0" "10" "4" "79203770" "79203770" "del" "0" "02326" "FRAS1_000051" "g.79203770del" "" "" "" "FRAS1(NM_025074.7):c.1108-204delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78282616del" "" "benign" "" "0000251319" "0" "10" "4" "79205747" "79205747" "subst" "0.375928" "02326" "FRAS1_000059" "g.79205747A>G" "" "" "" "FRAS1(NM_025074.7):c.1399+45A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78284593A>G" "" "benign" "" "0000251320" "0" "10" "4" "79240286" "79240286" "subst" "0" "02326" "FRAS1_000075" "g.79240286A>C" "" "" "" "FRAS1(NM_025074.7):c.2137+146A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78319132A>C" "" "benign" "" "0000251321" "0" "10" "4" "79295156" "79295156" "subst" "0" "02326" "FRAS1_000098" "g.79295156A>G" "" "" "" "FRAS1(NM_025074.7):c.3011-109A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78374002A>G" "" "benign" "" "0000251322" "0" "10" "4" "79297117" "79297117" "subst" "0" "02326" "FRAS1_000287" "g.79297117A>T" "" "" "" "FRAS1(NM_025074.7):c.3292+84A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78375963A>T" "" "benign" "" "0000251323" "0" "10" "4" "79305501" "79305501" "subst" "0" "02326" "FRAS1_000288" "g.79305501A>G" "" "" "" "FRAS1(NM_025074.7):c.3648+204A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78384347A>G" "" "benign" "" "0000251324" "0" "10" "4" "79345650" "79345650" "subst" "0" "02326" "FRAS1_000134" "g.79345650A>G" "" "" "" "FRAS1(NM_025074.7):c.4711+76A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78424496A>G" "" "benign" "" "0000251325" "0" "10" "4" "79360316" "79360316" "subst" "0" "02326" "FRAS1_000289" "g.79360316A>T" "" "" "" "FRAS1(NM_025074.7):c.5529+98A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78439162A>T" "" "benign" "" "0000251326" "0" "10" "4" "79365522" "79365522" "subst" "0" "02326" "FRAS1_000147" "g.79365522A>G" "" "" "" "FRAS1(NM_025074.7):c.5666-1154A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78444368A>G" "" "benign" "" "0000251327" "0" "10" "4" "79372856" "79372856" "subst" "0" "02326" "FRAS1_000290" "g.79372856A>C" "" "" "" "FRAS1(NM_025074.7):c.6464-70A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78451702A>C" "" "benign" "" "0000251328" "0" "10" "4" "79385746" "79385746" "subst" "0.00305644" "02326" "FRAS1_000169" "g.79385746A>C" "" "" "" "FRAS1(NM_025074.7):c.7029+9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78464592A>C" "" "benign" "" "0000251329" "0" "10" "4" "79400377" "79400377" "subst" "0" "02326" "FRAS1_000193" "g.79400377A>C" "" "" "" "FRAS1(NM_025074.7):c.8099-151A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78479223A>C" "" "benign" "" "0000251330" "0" "10" "4" "79403146" "79403146" "subst" "0.351243" "02326" "FRAS1_000201" "g.79403146A>T" "" "" "" "FRAS1(NM_025074.7):c.8604+28A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78481992A>T" "" "benign" "" "0000251331" "0" "10" "4" "79420616" "79420616" "subst" "0" "02326" "FRAS1_000213" "g.79420616A>G" "" "" "" "FRAS1(NM_025074.7):c.9116-259A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78499462A>G" "" "benign" "" "0000251332" "0" "10" "4" "79428489" "79428489" "subst" "0" "02326" "FRAS1_000222" "g.79428489A>G" "" "" "" "FRAS1(NM_025074.7):c.9317-86A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78507335A>G" "" "benign" "" "0000251333" "0" "10" "4" "79432256" "79432256" "subst" "0" "02326" "FRAS1_000292" "g.79432256A>G" "" "" "" "FRAS1(NM_025074.7):c.9781-172A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78511102A>G" "" "benign" "" "0000251334" "0" "10" "4" "79432286" "79432286" "subst" "0" "02326" "FRAS1_000231" "g.79432286A>C" "" "" "" "FRAS1(NM_025074.7):c.9781-142A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78511132A>C" "" "benign" "" "0000251335" "0" "10" "4" "79436888" "79436888" "subst" "0" "02326" "FRAS1_000243" "g.79436888A>G" "" "" "" "FRAS1(NM_025074.7):c.10175-65A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78515734A>G" "" "benign" "" "0000251336" "0" "10" "4" "79440747" "79440747" "subst" "0" "02326" "FRAS1_000254" "g.79440747A>T" "" "" "" "FRAS1(NM_025074.7):c.10540+112A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78519593A>T" "" "benign" "" "0000251888" "0" "30" "4" "79295319" "79295319" "subst" "0.000717284" "02326" "FRAS1_000100" "g.79295319A>C" "" "" "" "FRAS1(NM_001166133.1):c.3065A>C (p.(Lys1022Thr)), FRAS1(NM_025074.7):c.3065A>C (p.K1022T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78374165A>C" "" "likely benign" "" "0000252091" "0" "30" "4" "79199938" "79199938" "subst" "0" "02326" "FRAS1_000047" "g.79199938A>T" "" "" "" "FRAS1(NM_025074.7):c.1071+40A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78278784A>T" "" "likely benign" "" "0000252092" "0" "30" "4" "79440467" "79440467" "subst" "0.000991183" "02326" "FRAS1_000252" "g.79440467A>T" "" "" "" "FRAS1(NM_025074.7):c.10390-18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78519313A>T" "" "likely benign" "" "0000252792" "0" "50" "4" "79429904" "79429904" "subst" "0" "02326" "FRAS1_000226" "g.79429904A>C" "" "" "" "FRAS1(NM_025074.7):c.9524A>C (p.Y3175S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78508750A>C" "" "VUS" "" "0000254547" "0" "30" "4" "79458283" "79458283" "subst" "0.000800345" "01943" "FRAS1_000273" "g.79458283A>G" "" "" "" "FRAS1(NM_025074.6):c.11227A>G (p.(Ile3743Val)), FRAS1(NM_025074.7):c.11227A>G (p.I3743V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78537129A>G" "" "likely benign" "" "0000256372" "0" "50" "4" "79387555" "79387555" "subst" "0.000472017" "01943" "FRAS1_000291" "g.79387555A>G" "" "" "" "FRAS1(NM_025074.6):c.7223A>G (p.(Asn2408Ser)), FRAS1(NM_025074.7):c.7223A>G (p.N2408S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78466401A>G" "" "VUS" "" "0000280872" "0" "50" "4" "79437009" "79437009" "subst" "0.000358265" "02325" "FRAS1_000244" "g.79437009G>A" "" "" "" "FRAS1(NM_025074.7):c.10231G>A (p.D3411N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78515855G>A" "" "VUS" "" "0000280873" "0" "10" "4" "79443850" "79443850" "subst" "0.520041" "02325" "FRAS1_000265" "g.79443850G>A" "" "" "" "FRAS1(NM_025074.7):c.10696G>A (p.V3566I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78522696G>A" "" "benign" "" "0000280874" "0" "10" "4" "78989716" "78989716" "subst" "0" "02325" "FRAS1_000015" "g.78989716T>C" "" "" "" "FRAS1(NM_025074.7):c.108+2546T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78068562T>C" "" "benign" "" "0000280875" "0" "10" "4" "79455733" "79455733" "subst" "0.4895" "02325" "FRAS1_000269" "g.79455733C>T" "" "" "" "FRAS1(NM_025074.7):c.11056C>T (p.L3686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78534579C>T" "" "benign" "" "0000280876" "0" "10" "4" "79205699" "79205699" "subst" "0.359541" "02325" "FRAS1_000057" "g.79205699T>A" "" "" "" "FRAS1(NM_025074.7):c.1396T>A (p.L466I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78284545T>A" "" "benign" "" "0000280877" "0" "10" "4" "79238649" "79238649" "subst" "0.739074" "02325" "FRAS1_000071" "g.79238649T>C" "" "" "" "FRAS1(NM_025074.7):c.1947T>C (p.H649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78317495T>C" "" "benign" "" "0000280878" "0" "10" "4" "79284694" "79284694" "subst" "0.484896" "02325" "FRAS1_000087" "g.79284694C>T" "" "" "" "FRAS1(NM_025074.7):c.2450C>T (p.A817V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78363540C>T" "" "benign" "" "0000280879" "0" "30" "4" "79295312" "79295312" "subst" "0.000790913" "02325" "FRAS1_000099" "g.79295312C>T" "" "" "" "FRAS1(NM_025074.7):c.3058C>T (p.R1020C, p.(Arg1020Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78374158C>T" "" "likely benign" "" "0000280880" "0" "10" "4" "79295322" "79295322" "subst" "0.0182903" "02325" "FRAS1_000101" "g.79295322G>A" "" "" "" "FRAS1(NM_025074.7):c.3068G>A (p.G1023E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78374168G>A" "" "benign" "" "0000280881" "0" "10" "4" "79295378" "79295378" "subst" "0.0181995" "02325" "FRAS1_000104" "g.79295378G>A" "" "" "" "FRAS1(NM_025074.7):c.3124G>A (p.A1042T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78374224G>A" "" "benign" "" "0000280883" "0" "10" "4" "79300899" "79300899" "subst" "0.0636718" "02325" "FRAS1_000109" "g.79300899T>C" "" "" "" "FRAS1(NM_025074.7):c.3312T>C (p.S1104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78379745T>C" "" "benign" "" "0000280884" "0" "10" "4" "79300993" "79300993" "subst" "0.26918" "02325" "FRAS1_000110" "g.79300993G>A" "" "" "" "FRAS1(NM_025074.7):c.3406G>A (p.E1136K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78379839G>A" "" "benign" "" "0000280885" "0" "30" "4" "79334148" "79334148" "subst" "0.000350429" "02325" "FRAS1_000121" "g.79334148C>T" "" "" "" "FRAS1(NM_025074.7):c.4334C>T (p.T1445I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78412994C>T" "" "likely benign" "" "0000280886" "0" "10" "4" "79359885" "79359885" "subst" "0.376955" "02325" "FRAS1_000141" "g.79359885T>G" "" "" "" "FRAS1(NM_025074.7):c.5366+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78438731T>G" "" "benign" "" "0000280887" "0" "30" "4" "79360063" "79360063" "subst" "0.00175374" "02325" "FRAS1_000142" "g.79360063G>A" "" "" "" "FRAS1(NM_025074.7):c.5374G>A (p.A1792T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78438909G>A" "" "likely benign" "" "0000280888" "0" "10" "4" "79186047" "79186047" "subst" "0" "02325" "FRAS1_000032" "g.79186047G>A" "" "" "" "FRAS1(NM_025074.7):c.604-132G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78264893G>A" "" "benign" "" "0000280889" "0" "10" "4" "79372930" "79372930" "subst" "0.676999" "02325" "FRAS1_000157" "g.79372930C>T" "" "" "" "FRAS1(NM_025074.7):c.6468C>T (p.H2156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78451776C>T" "" "benign" "" "0000280890" "0" "10" "4" "79385719" "79385719" "subst" "0.371724" "02325" "FRAS1_000167" "g.79385719G>A" "" "" "" "FRAS1(NM_025074.7):c.7011G>A (p.A2337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78464565G>A" "" "benign" "" "0000280891" "0" "10" "4" "79391256" "79391256" "subst" "0.988488" "02325" "FRAS1_000181" "g.79391256T>C" "" "" "" "FRAS1(NM_025074.7):c.7371+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78470102T>C" "" "benign" "" "0000280892" "0" "10" "4" "79400868" "79400868" "subst" "0.37203" "02325" "FRAS1_000198" "g.79400868C>T" "" "" "" "FRAS1(NM_025074.7):c.8439C>T (p.D2813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78479714C>T" "" "benign" "" "0000280893" "0" "10" "4" "79420864" "79420864" "subst" "0.50404" "02325" "FRAS1_000216" "g.79420864T>C" "" "" "" "FRAS1(NM_025074.7):c.9116-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78499710T>C" "" "benign" "" "0000280894" "0" "10" "4" "79420870" "79420870" "subst" "0.503168" "02325" "FRAS1_000218" "g.79420870C>G" "" "" "" "FRAS1(NM_025074.7):c.9116-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78499716C>G" "" "benign" "" "0000280895" "0" "30" "4" "79432453" "79432453" "subst" "0.00528751" "02325" "FRAS1_000232" "g.79432453G>A" "" "" "" "FRAS1(NM_025074.6):c.9806G>A (p.(Arg3269Gln)), FRAS1(NM_025074.7):c.9806G>A (p.R3269Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78511299G>A" "" "likely benign" "" "0000284096" "0" "10" "4" "78979141" "78979141" "subst" "0.163583" "02326" "FRAS1_000004" "g.78979141C>T" "" "" "" "FRAS1(NM_025074.7):c.-23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78057987C>T" "" "benign" "" "0000284097" "0" "10" "4" "79462311" "79462311" "subst" "0.196272" "02326" "FRAS1_000284" "g.79462311T>A" "" "" "" "FRAS1(NM_025074.7):c.*33T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78541157T>A" "" "benign" "" "0000284098" "0" "10" "4" "79434389" "79434389" "subst" "0" "02326" "FRAS1_000235" "g.79434389C>T" "" "" "" "FRAS1(NM_025074.7):c.10014-157C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78513235C>T" "" "benign" "" "0000284099" "0" "10" "4" "79434487" "79434487" "subst" "0" "02326" "FRAS1_000237" "g.79434487G>A" "" "" "" "FRAS1(NM_025074.7):c.10014-59G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78513333G>A" "" "benign" "" "0000284100" "0" "10" "4" "79434484" "79434484" "subst" "0" "02326" "FRAS1_000236" "g.79434484T>C" "" "" "" "FRAS1(NM_025074.7):c.10014-62T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78513330T>C" "" "benign" "" "0000284101" "0" "10" "4" "79434685" "79434685" "subst" "0.135945" "02326" "FRAS1_000238" "g.79434685T>G" "" "" "" "FRAS1(NM_025074.7):c.10153T>G (p.Y3385D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78513531T>G" "" "benign" "" "0000284102" "0" "10" "4" "79434820" "79434820" "subst" "0" "02326" "FRAS1_000239" "g.79434820T>C" "" "" "" "FRAS1(NM_025074.7):c.10174+114T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78513666T>C" "" "benign" "" "0000284103" "0" "10" "4" "79434890" "79434890" "subst" "0" "02326" "FRAS1_000240" "g.79434890C>A" "" "" "" "FRAS1(NM_025074.7):c.10174+184C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78513736C>A" "" "benign" "" "0000284104" "0" "10" "4" "79436778" "79436778" "subst" "0" "02326" "FRAS1_000241" "g.79436778G>A" "" "" "" "FRAS1(NM_025074.7):c.10175-175G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78515624G>A" "" "benign" "" "0000284105" "0" "10" "4" "79436875" "79436875" "subst" "0" "02326" "FRAS1_000242" "g.79436875G>A" "" "" "" "FRAS1(NM_025074.7):c.10175-78G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78515721G>A" "" "benign" "" "0000284106" "0" "10" "4" "79437155" "79437155" "subst" "0.180296" "02326" "FRAS1_000248" "g.79437155C>T" "" "" "" "FRAS1(NM_025074.7):c.10377C>T (p.T3459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78516001C>T" "" "benign" "" "0000284107" "0" "10" "4" "79437178" "79437178" "subst" "0.137832" "02326" "FRAS1_000249" "g.79437178C>T" "" "" "" "FRAS1(NM_025074.7):c.10389+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78516024C>T" "" "benign" "" "0000284108" "0" "10" "4" "79440425" "79440425" "subst" "0" "02326" "FRAS1_000251" "g.79440425T>C" "" "" "" "FRAS1(NM_025074.7):c.10390-60T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78519271T>C" "" "benign" "" "0000284109" "0" "10" "4" "79440393" "79440393" "subst" "0" "02326" "FRAS1_000250" "g.79440393G>A" "" "" "" "FRAS1(NM_025074.7):c.10390-92G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78519239G>A" "" "benign" "" "0000284110" "0" "10" "4" "79440589" "79440589" "subst" "0.0196337" "02326" "FRAS1_000253" "g.79440589C>T" "" "" "" "FRAS1(NM_025074.7):c.10494C>T (p.T3498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78519435C>T" "" "benign" "" "0000284111" "0" "10" "4" "79442558" "79442558" "subst" "0" "02326" "FRAS1_000255" "g.79442558G>A" "" "" "" "FRAS1(NM_025074.7):c.10541-119G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78521404G>A" "" "benign" "" "0000284112" "0" "10" "4" "79442808" "79442809" "del" "0" "02326" "FRAS1_000258" "g.79442808_79442809del" "" "" "" "FRAS1(NM_025074.7):c.10648+24_10648+25delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78521654_78521655del" "" "benign" "" "0000284113" "0" "10" "4" "79442809" "79442809" "del" "0" "02326" "FRAS1_000257" "g.79442809del" "" "" "" "FRAS1(NM_025074.7):c.10648+25delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78521655del" "" "benign" "" "0000284115" "0" "10" "4" "79442873" "79442873" "subst" "0" "02326" "FRAS1_000260" "g.79442873C>T" "" "" "" "FRAS1(NM_025074.7):c.10648+89C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78521719C>T" "" "benign" "" "0000284116" "0" "10" "4" "79443611" "79443611" "subst" "0" "02326" "FRAS1_000261" "g.79443611G>T" "" "" "" "FRAS1(NM_025074.7):c.10649-192G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78522457G>T" "" "benign" "" "0000284117" "0" "10" "4" "79443774" "79443774" "subst" "0.995" "02326" "FRAS1_000262" "g.79443774T>A" "" "" "" "FRAS1(NM_025074.7):c.10649-29T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78522620T>A" "" "benign" "" "0000284118" "0" "10" "4" "79443850" "79443850" "subst" "0.520041" "02326" "FRAS1_000265" "g.79443850G>A" "" "" "" "FRAS1(NM_025074.7):c.10696G>A (p.V3566I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78522696G>A" "" "benign" "" "0000284119" "0" "10" "4" "78987285" "78987285" "subst" "0" "02326" "FRAS1_000011" "g.78987285C>A" "" "" "" "FRAS1(NM_025074.7):c.108+115C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78066131C>A" "" "benign" "" "0000284120" "0" "10" "4" "78989630" "78989630" "subst" "0" "02326" "FRAS1_000013" "g.78989630G>A" "" "" "" "FRAS1(NM_025074.7):c.108+2460G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78068476G>A" "" "benign" "" "0000284121" "0" "10" "4" "78989672" "78989672" "subst" "0" "02326" "FRAS1_000014" "g.78989672G>C" "" "" "" "FRAS1(NM_025074.7):c.108+2502G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78068518G>C" "" "benign" "" "0000284122" "0" "10" "4" "78989716" "78989716" "subst" "0" "02326" "FRAS1_000015" "g.78989716T>C" "" "" "" "FRAS1(NM_025074.7):c.108+2546T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78068562T>C" "" "benign" "" "0000284123" "0" "10" "4" "78989842" "78989842" "subst" "0" "02326" "FRAS1_000016" "g.78989842G>A" "" "" "" "FRAS1(NM_025074.7):c.108+2672G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78068688G>A" "" "benign" "" "0000284124" "0" "10" "4" "78989939" "78989939" "subst" "0" "02326" "FRAS1_000017" "g.78989939G>A" "" "" "" "FRAS1(NM_025074.7):c.108+2769G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78068785G>A" "" "benign" "" "0000284125" "0" "90" "4" "78987172" "78987172" "subst" "4.09531E-6" "02326" "FRAS1_000010" "g.78987172T>C" "" "" "" "FRAS1(NM_025074.7):c.108+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78066018T>C" "" "pathogenic" "" "0000284126" "0" "10" "4" "79444029" "79444029" "subst" "0" "02326" "FRAS1_000266" "g.79444029G>A" "" "" "" "FRAS1(NM_025074.7):c.10808+67G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78522875G>A" "" "benign" "" "0000284127" "0" "10" "4" "79444043" "79444043" "subst" "0" "02326" "FRAS1_000267" "g.79444043C>T" "" "" "" "FRAS1(NM_025074.7):c.10808+81C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78522889C>T" "" "benign" "" "0000284128" "0" "10" "4" "79447763" "79447763" "subst" "0.11811" "02326" "FRAS1_000268" "g.79447763T>C" "" "" "" "FRAS1(NM_025074.7):c.10877T>C (p.V3626A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78526609T>C" "" "benign" "" "0000284129" "0" "10" "4" "79125785" "79125785" "subst" "0" "02326" "FRAS1_000018" "g.79125785C>T" "" "" "" "FRAS1(NM_025074.7):c.109-32879C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78204631C>T" "" "benign" "" "0000284130" "0" "10" "4" "79455733" "79455733" "subst" "0.4895" "02326" "FRAS1_000269" "g.79455733C>T" "" "" "" "FRAS1(NM_025074.7):c.11056C>T (p.L3686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78534579C>T" "" "benign" "" "0000284131" "0" "10" "4" "79202779" "79202779" "subst" "0" "02326" "FRAS1_000050" "g.79202779G>A" "" "" "" "FRAS1(NM_025074.7):c.1107+192G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78281625G>A" "" "benign" "" "0000284132" "0" "10" "4" "79455858" "79455858" "subst" "0" "02326" "FRAS1_000270" "g.79455858T>A" "" "" "" "FRAS1(NM_025074.7):c.11092+89T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78534704T>A" "" "benign" "" "0000284133" "0" "10" "4" "79457982" "79457982" "subst" "0" "02326" "FRAS1_000272" "g.79457982G>A" "" "" "" "FRAS1(NM_025074.7):c.11093-167G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78536828G>A" "" "benign" "" "0000284134" "0" "10" "4" "79457952" "79457952" "subst" "0" "02326" "FRAS1_000271" "g.79457952C>T" "" "" "" "FRAS1(NM_025074.7):c.11093-197C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78536798C>T" "" "benign" "" "0000284135" "0" "30" "4" "79458303" "79458303" "subst" "8.12506E-6" "02326" "FRAS1_000274" "g.79458303G>A" "" "" "" "FRAS1(NM_025074.7):c.11247G>A (p.Q3749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78537149G>A" "" "likely benign" "" "0000284136" "0" "10" "4" "79458537" "79458537" "subst" "0" "02326" "FRAS1_000276" "g.79458537C>A" "" "" "" "FRAS1(NM_025074.7):c.11298+183C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78537383C>A" "" "benign" "" "0000284137" "0" "10" "4" "79460662" "79460663" "del" "0" "02326" "FRAS1_000277" "g.79460662_79460663del" "" "" "" "FRAS1(NM_025074.7):c.11445+68_11445+69delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78539508_78539509del" "" "benign" "" "0000284138" "0" "50" "4" "79204019" "79204019" "subst" "8.14206E-6" "02326" "FRAS1_000053" "g.79204019C>T" "" "" "" "FRAS1(NM_025074.7):c.1153C>T (p.R385*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78282865C>T" "" "VUS" "" "0000284139" "0" "90" "4" "79461783" "79461783" "del" "0" "02326" "FRAS1_000278" "g.79461783del" "" "" "" "FRAS1(NM_025074.7):c.11544delC (p.R3849Dfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78540629del" "" "pathogenic" "" "0000284140" "0" "10" "4" "79204209" "79204209" "subst" "0" "02326" "FRAS1_000054" "g.79204209C>T" "" "" "" "FRAS1(NM_025074.7):c.1255+88C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78283055C>T" "" "benign" "" "0000284141" "0" "10" "4" "79205435" "79205435" "subst" "0" "02326" "FRAS1_000055" "g.79205435C>T" "" "" "" "FRAS1(NM_025074.7):c.1256-124C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78284281C>T" "" "benign" "" "0000284142" "0" "10" "4" "79205699" "79205699" "subst" "0.359541" "02326" "FRAS1_000057" "g.79205699T>A" "" "" "" "FRAS1(NM_025074.7):c.1396T>A (p.L466I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78284545T>A" "" "benign" "" "0000284143" "0" "10" "4" "79207784" "79207784" "subst" "0" "02326" "FRAS1_000060" "g.79207784G>T" "" "" "" "FRAS1(NM_025074.7):c.1534+91G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78286630G>T" "" "benign" "" "0000284144" "0" "10" "4" "79229294" "79229294" "subst" "9.75578E-5" "02326" "FRAS1_000062" "g.79229294G>A" "" "" "" "FRAS1(NM_025074.7):c.1609G>A (p.V537M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78308140G>A" "" "benign" "" "0000284145" "0" "10" "4" "79158715" "79158715" "subst" "0.0174494" "02326" "FRAS1_000019" "g.79158715G>C" "" "" "" "FRAS1(NM_025074.7):c.160G>C (p.D54H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78237561G>C" "" "benign" "" "0000284146" "0" "10" "4" "79229435" "79229435" "subst" "0" "02326" "FRAS1_000064" "g.79229435C>G" "" "" "" "FRAS1(NM_025074.7):c.1678+72C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78308281C>G" "" "benign" "" "0000284147" "0" "10" "4" "79237027" "79237027" "subst" "0" "02326" "FRAS1_000066" "g.79237027T>C" "" "" "" "FRAS1(NM_025074.7):c.1819+139T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78315873T>C" "" "benign" "" "0000284148" "0" "10" "4" "79238496" "79238496" "subst" "0.24258" "02326" "FRAS1_000068" "g.79238496G>A" "" "" "" "FRAS1(NM_025074.7):c.1820-26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78317342G>A" "" "benign" "" "0000284149" "0" "10" "4" "79238448" "79238448" "subst" "0" "02326" "FRAS1_000067" "g.79238448T>C" "" "" "" "FRAS1(NM_025074.7):c.1820-74T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78317294T>C" "" "benign" "" "0000284151" "0" "10" "4" "79238649" "79238649" "subst" "0.739074" "02326" "FRAS1_000071" "g.79238649T>C" "" "" "" "FRAS1(NM_025074.7):c.1947T>C (p.H649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78317495T>C" "" "benign" "" "0000284152" "0" "50" "4" "79240135" "79240135" "subst" "0.000199231" "02326" "FRAS1_000073" "g.79240135G>A" "" "" "" "FRAS1(NM_025074.7):c.2132G>A (p.C711Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78318981G>A" "" "VUS" "" "0000284153" "0" "10" "4" "79240473" "79240473" "subst" "0" "02326" "FRAS1_000076" "g.79240473C>T" "" "" "" "FRAS1(NM_025074.7):c.2137+333C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78319319C>T" "" "benign" "" "0000284154" "0" "10" "4" "79240674" "79240674" "subst" "0" "02326" "FRAS1_000077" "g.79240674C>T" "" "" "" "FRAS1(NM_025074.7):c.2137+534C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78319520C>T" "" "benign" "" "0000284155" "0" "10" "4" "79240196" "79240196" "subst" "0" "02326" "FRAS1_000074" "g.79240196C>G" "" "" "" "FRAS1(NM_025074.7):c.2137+56C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78319042C>G" "" "benign" "" "0000284156" "0" "10" "4" "79158843" "79158843" "subst" "0" "02326" "FRAS1_000020" "g.79158843G>T" "" "" "" "FRAS1(NM_025074.7):c.216+72G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78237689G>T" "" "benign" "" "0000284157" "0" "50" "4" "79254451" "79254451" "subst" "8.19759E-6" "02326" "FRAS1_000078" "g.79254451T>G" "" "" "" "FRAS1(NM_025074.7):c.2163T>G (p.C721W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78333297T>G" "" "VUS" "" "0000284158" "0" "10" "4" "79258805" "79258805" "subst" "0.0096305" "02326" "FRAS1_000081" "g.79258805C>A" "" "" "" "FRAS1(NM_025074.7):c.2279-23C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78337651C>A" "" "benign" "" "0000284159" "0" "10" "4" "79258775" "79258775" "subst" "0" "02326" "FRAS1_000080" "g.79258775G>A" "" "" "" "FRAS1(NM_025074.7):c.2279-53G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78337621G>A" "" "benign" "" "0000284160" "0" "50" "4" "79258843" "79258843" "subst" "0" "02326" "FRAS1_000082" "g.79258843G>A" "" "" "" "FRAS1(NM_025074.7):c.2294G>A (p.C765Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78337689G>A" "" "VUS" "" "0000284161" "0" "10" "4" "79258862" "79258862" "subst" "0.0321313" "02326" "FRAS1_000083" "g.79258862G>T" "" "" "" "FRAS1(NM_025074.7):c.2313G>T (p.P771=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78337708G>T" "" "benign" "" "0000284162" "0" "50" "4" "79258876" "79258876" "subst" "0" "02326" "FRAS1_000084" "g.79258876G>A" "" "" "" "FRAS1(NM_025074.7):c.2327G>A (p.C776Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78337722G>A" "" "VUS" "" "0000284163" "0" "50" "4" "79258876" "79258876" "subst" "0" "02326" "FRAS1_000085" "g.79258876G>T" "" "" "" "FRAS1(NM_025074.7):c.2327G>T (p.C776F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78337722G>T" "" "VUS" "" "0000284164" "0" "10" "4" "79259117" "79259117" "subst" "0" "02326" "FRAS1_000086" "g.79259117C>T" "" "" "" "FRAS1(NM_025074.7):c.2422+146C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78337963C>T" "" "benign" "" "0000284165" "0" "10" "4" "79284694" "79284694" "subst" "0.484896" "02326" "FRAS1_000087" "g.79284694C>T" "" "" "" "FRAS1(NM_025074.7):c.2450C>T (p.A817V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78363540C>T" "" "benign" "" "0000284166" "0" "10" "4" "79285001" "79285001" "subst" "0" "02326" "FRAS1_000088" "g.79285001G>A" "" "" "" "FRAS1(NM_025074.7):c.2576-61G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78363847G>A" "" "benign" "" "0000284167" "0" "30" "4" "79285084" "79285084" "subst" "0.000596408" "02326" "FRAS1_000089" "g.79285084C>T" "" "" "" "FRAS1(NM_025074.7):c.2598C>T (p.T866=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78363930C>T" "" "likely benign" "" "0000284168" "0" "30" "4" "79285146" "79285146" "subst" "0.00424618" "02326" "FRAS1_000090" "g.79285146C>G" "" "" "" "FRAS1(NM_025074.7):c.2660C>G (p.T887S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78363992C>G" "" "likely benign" "" "0000284169" "0" "50" "4" "79285205" "79285205" "subst" "0" "02326" "FRAS1_000091" "g.79285205C>T" "" "" "" "FRAS1(NM_025074.7):c.2719C>T (p.Q907*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78364051C>T" "" "VUS" "" "0000284170" "0" "10" "4" "79285354" "79285354" "subst" "0" "02326" "FRAS1_000093" "g.79285354G>A" "" "" "" "FRAS1(NM_025074.7):c.2722+146G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78364200G>A" "" "benign" "" "0000284171" "0" "90" "4" "79285209" "79285209" "subst" "0" "02326" "FRAS1_000092" "g.79285209G>A" "" "" "" "FRAS1(NM_025074.7):c.2722+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78364055G>A" "" "pathogenic" "" "0000284172" "0" "10" "4" "79291275" "79291275" "subst" "0" "02326" "FRAS1_000096" "g.79291275G>A" "" "" "" "FRAS1(NM_025074.7):c.2869+137G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78370121G>A" "" "benign" "" "0000284173" "0" "30" "4" "79295312" "79295312" "subst" "0.000790913" "02326" "FRAS1_000099" "g.79295312C>T" "" "" "" "FRAS1(NM_025074.7):c.3058C>T (p.R1020C, p.(Arg1020Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78374158C>T" "" "likely benign" "" "0000284174" "0" "10" "4" "79295322" "79295322" "subst" "0.0182903" "02326" "FRAS1_000101" "g.79295322G>A" "" "" "" "FRAS1(NM_025074.7):c.3068G>A (p.G1023E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78374168G>A" "" "benign" "" "0000284175" "0" "10" "4" "79166568" "79166568" "subst" "0" "02326" "FRAS1_000022" "g.79166568T>G" "" "" "" "FRAS1(NM_025074.7):c.309+89T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78245414T>G" "" "benign" "" "0000284176" "0" "10" "4" "79173525" "79173525" "subst" "0" "02326" "FRAS1_000024" "g.79173525T>C" "" "" "" "FRAS1(NM_025074.7):c.310-21T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78252371T>C" "" "benign" "" "0000284177" "0" "10" "4" "79173526" "79173526" "del" "0" "02326" "FRAS1_000023" "g.79173526del" "" "" "" "FRAS1(NM_025074.7):c.310-20delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78252372del" "" "benign" "" "0000284178" "0" "10" "4" "79295378" "79295378" "subst" "0.0181995" "02326" "FRAS1_000104" "g.79295378G>A" "" "" "" "FRAS1(NM_025074.7):c.3124G>A (p.A1042T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78374224G>A" "" "benign" "" "0000284180" "0" "10" "4" "79295419" "79295420" "dup" "0" "02326" "FRAS1_000106" "g.79295419_79295420dup" "" "" "" "FRAS1(NM_025074.7):c.3151+14_3151+15dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78374265_78374266dup" "" "benign" "" "0000284181" "0" "10" "4" "79295565" "79295565" "subst" "0" "02326" "FRAS1_000108" "g.79295565G>A" "" "" "" "FRAS1(NM_025074.7):c.3151+160G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78374411G>A" "" "benign" "" "0000284182" "0" "10" "4" "79300899" "79300899" "subst" "0.0636718" "02326" "FRAS1_000109" "g.79300899T>C" "" "" "" "FRAS1(NM_025074.7):c.3312T>C (p.S1104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78379745T>C" "" "benign" "" "0000284183" "0" "10" "4" "79300993" "79300993" "subst" "0.26918" "02326" "FRAS1_000110" "g.79300993G>A" "" "" "" "FRAS1(NM_025074.7):c.3406G>A (p.E1136K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78379839G>A" "" "benign" "" "0000284184" "0" "10" "4" "79305177" "79305177" "subst" "0.266474" "02326" "FRAS1_000112" "g.79305177T>G" "" "" "" "FRAS1(NM_025074.7):c.3564-36T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78384023T>G" "" "benign" "" "0000284185" "0" "10" "4" "79305148" "79305148" "subst" "0" "02326" "FRAS1_000111" "g.79305148C>G" "" "" "" "FRAS1(NM_025074.7):c.3564-65C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78383994C>G" "" "benign" "" "0000284186" "0" "10" "4" "79308446" "79308446" "subst" "0" "02326" "FRAS1_000113" "g.79308446T>C" "" "" "" "FRAS1(NM_025074.7):c.3649-83T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78387292T>C" "" "benign" "" "0000284187" "0" "90" "4" "79173606" "79173606" "subst" "4.87833E-5" "02326" "FRAS1_000025" "g.79173606C>T" "" "" "" "FRAS1(NM_025074.6):c.370C>T (p.(Arg124*)), FRAS1(NM_025074.7):c.370C>T (p.R124*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78252452C>T" "" "pathogenic" "" "0000284188" "0" "10" "4" "79173616" "79173616" "subst" "0.0115212" "02326" "FRAS1_000026" "g.79173616C>G" "" "" "" "FRAS1(NM_025074.7):c.380C>G (p.P127R, p.(Pro127Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78252462C>G" "" "benign" "" "0000284189" "0" "10" "4" "79321776" "79321777" "dup" "0" "02326" "FRAS1_000116" "g.79321776_79321777dup" "" "" "" "FRAS1(NM_025074.7):c.3976-113_3976-112dupTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78400622_78400623dup" "" "benign" "" "0000284191" "0" "10" "4" "79321790" "79321790" "subst" "0" "02326" "FRAS1_000117" "g.79321790G>T" "" "" "" "FRAS1(NM_025074.7):c.3976-98G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78400636G>T" "" "benign" "" "0000284192" "0" "10" "4" "79322210" "79322210" "subst" "0" "02326" "FRAS1_000118" "g.79322210C>T" "" "" "" "FRAS1(NM_025074.7):c.4129+169C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78401056C>T" "" "benign" "" "0000284193" "0" "10" "4" "79328739" "79328739" "dup" "0" "02326" "FRAS1_000120" "g.79328739dup" "" "" "" "FRAS1(NM_025074.7):c.4130-78dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78407585dup" "" "benign" "" "0000284195" "0" "10" "4" "79334264" "79334264" "subst" "0.179502" "02326" "FRAS1_000124" "g.79334264T>A" "" "" "" "FRAS1(NM_025074.7):c.4425+25T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78413110T>A" "" "benign" "" "0000284196" "0" "10" "4" "79339950" "79339950" "subst" "0" "02326" "FRAS1_000125" "g.79339950G>C" "" "" "" "FRAS1(NM_025074.7):c.4426-153G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78418796G>C" "" "benign" "" "0000284197" "0" "10" "4" "79340025" "79340025" "dup" "0" "02326" "FRAS1_000127" "g.79340025dup" "" "" "" "FRAS1(NM_025074.7):c.4426-78dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78418871dup" "" "benign" "" "0000284199" "0" "10" "4" "79340361" "79340361" "subst" "0" "02326" "FRAS1_000129" "g.79340361C>T" "" "" "" "FRAS1(NM_025074.7):c.4540+144C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78419207C>T" "" "benign" "" "0000284200" "0" "30" "4" "79340265" "79340265" "subst" "6.07844E-6" "02326" "FRAS1_000128" "g.79340265G>A" "" "" "" "FRAS1(NM_025074.7):c.4540+48G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78419111G>A" "" "likely benign" "" "0000284201" "0" "10" "4" "79343111" "79343111" "subst" "0.177002" "02326" "FRAS1_000132" "g.79343111G>A" "" "" "" "FRAS1(NM_025074.7):c.4635G>A (p.P1545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78421957G>A" "" "benign" "" "0000284202" "0" "10" "4" "79343286" "79343286" "subst" "0" "02326" "FRAS1_000133" "g.79343286G>C" "" "" "" "FRAS1(NM_025074.7):c.4678+132G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78422132G>C" "" "benign" "" "0000284203" "0" "10" "4" "79176325" "79176325" "subst" "0" "02326" "FRAS1_000027" "g.79176325C>T" "" "" "" "FRAS1(NM_025074.7):c.470-71C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78255171C>T" "" "benign" "" "0000284204" "0" "10" "4" "79345656" "79345658" "del" "0" "02326" "FRAS1_000135" "g.79345656_79345658del" "" "" "" "FRAS1(NM_025074.7):c.4711+82_4711+84delATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78424502_78424504del" "" "benign" "" "0000284205" "0" "10" "4" "79350115" "79350115" "subst" "0" "02326" "FRAS1_000136" "g.79350115C>T" "" "" "" "FRAS1(NM_025074.7):c.4712-134C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78428961C>T" "" "benign" "" "0000284206" "0" "10" "4" "79176444" "79176444" "subst" "0.0110196" "02326" "FRAS1_000028" "g.79176444G>A" "" "" "" "FRAS1(NM_001166133.1):c.518G>A (p.(Arg173Gln)), FRAS1(NM_025074.7):c.518G>A (p.R173Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78255290G>A" "" "benign" "" "0000284207" "0" "50" "4" "79353759" "79353759" "subst" "0" "02326" "FRAS1_000140" "g.79353759G>A" "" "" "" "FRAS1(NM_025074.7):c.5217+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78432605G>A" "" "VUS" "" "0000284208" "0" "10" "4" "79359885" "79359885" "subst" "0.376955" "02326" "FRAS1_000141" "g.79359885T>G" "" "" "" "FRAS1(NM_025074.7):c.5366+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78438731T>G" "" "benign" "" "0000284209" "0" "10" "4" "79365479" "79365479" "subst" "0" "02326" "FRAS1_000146" "g.79365479C>T" "" "" "" "FRAS1(NM_025074.7):c.5666-1197C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78444325C>T" "" "benign" "" "0000284210" "0" "10" "4" "79365431" "79365431" "subst" "0" "02326" "FRAS1_000145" "g.79365431G>A" "" "" "" "FRAS1(NM_025074.7):c.5666-1245G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78444277G>A" "" "benign" "" "0000284211" "0" "10" "4" "79365152" "79365152" "subst" "0" "02326" "FRAS1_000144" "g.79365152G>A" "" "" "" "FRAS1(NM_025074.7):c.5666-1524G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78443998G>A" "" "benign" "" "0000284212" "0" "10" "4" "79366655" "79366655" "subst" "0.364257" "02326" "FRAS1_000149" "g.79366655G>C" "" "" "" "FRAS1(NM_025074.7):c.5666-21G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78445501G>C" "" "benign" "" "0000284213" "0" "10" "4" "79366587" "79366587" "del" "0" "02326" "FRAS1_000148" "g.79366587del" "" "" "" "FRAS1(NM_025074.7):c.5666-89delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78445433del" "" "benign" "" "0000284214" "0" "10" "4" "79366735" "79366735" "subst" "0.000476117" "02326" "FRAS1_000151" "g.79366735G>A" "" "" "" "FRAS1(NM_025074.7):c.5725G>A (p.V1909I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78445581G>A" "" "benign" "" "0000284215" "0" "10" "4" "79176498" "79176498" "subst" "8.08046E-5" "02326" "FRAS1_000030" "g.79176498C>T" "" "" "" "FRAS1(NM_025074.7):c.572C>T (p.T191I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78255344C>T" "" "benign" "" "0000284216" "0" "90" "4" "79176531" "79176531" "subst" "0" "02326" "FRAS1_000031" "g.79176531T>A" "" "" "" "FRAS1(NM_025074.7):c.603+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78255377T>A" "" "pathogenic" "" "0000284217" "0" "10" "4" "79186047" "79186047" "subst" "0" "02326" "FRAS1_000032" "g.79186047G>A" "" "" "" "FRAS1(NM_025074.7):c.604-132G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78264893G>A" "" "benign" "" "0000284218" "0" "10" "4" "79371474" "79371474" "subst" "0.163392" "02326" "FRAS1_000156" "g.79371474C>T" "" "" "" "FRAS1(NM_025074.7):c.6444C>T (p.T2148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78450320C>T" "" "benign" "" "0000284219" "0" "10" "4" "79372930" "79372930" "subst" "0.676999" "02326" "FRAS1_000157" "g.79372930C>T" "" "" "" "FRAS1(NM_025074.7):c.6468C>T (p.H2156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78451776C>T" "" "benign" "" "0000284220" "0" "10" "4" "79373254" "79373254" "subst" "0" "02326" "FRAS1_000158" "g.79373254T>C" "" "" "" "FRAS1(NM_025074.7):c.6584-75T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78452100T>C" "" "benign" "" "0000284221" "0" "10" "4" "79385034" "79385034" "subst" "0" "02326" "FRAS1_000160" "g.79385034G>A" "" "" "" "FRAS1(NM_025074.7):c.6764-141G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78463880G>A" "" "benign" "" "0000284222" "0" "90" "4" "79385198" "79385198" "subst" "0" "02326" "FRAS1_000161" "g.79385198C>T" "" "" "" "FRAS1(NM_025074.7):c.6787C>T (p.Q2263*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78464044C>T" "" "pathogenic" "" "0000284223" "0" "90" "4" "79385216" "79385216" "subst" "4.06779E-6" "02326" "FRAS1_000163" "g.79385216C>T" "" "" "" "FRAS1(NM_025074.7):c.6805C>T (p.R2269*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78464062C>T" "" "pathogenic" "" "0000284224" "0" "10" "4" "79186331" "79186331" "subst" "0" "02326" "FRAS1_000033" "g.79186331C>T" "" "" "" "FRAS1(NM_025074.7):c.687+69C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78265177C>T" "" "benign" "" "0000284225" "0" "10" "4" "79187832" "79187832" "subst" "0" "02326" "FRAS1_000036" "g.79187832G>A" "" "" "" "FRAS1(NM_025074.7):c.688-156G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78266678G>A" "" "benign" "" "0000284226" "0" "50" "4" "79187983" "79187983" "subst" "0" "02326" "FRAS1_000038" "g.79187983T>G" "" "" "" "FRAS1(NM_025074.7):c.688-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78266829T>G" "" "VUS" "" "0000284227" "0" "10" "4" "79187900" "79187900" "subst" "0" "02326" "FRAS1_000037" "g.79187900T>G" "" "" "" "FRAS1(NM_025074.7):c.688-88T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78266746T>G" "" "benign" "" "0000284228" "0" "10" "4" "79385632" "79385632" "subst" "0.057947" "02326" "FRAS1_000164" "g.79385632C>T" "" "" "" "FRAS1(NM_025074.7):c.6924C>T (p.V2308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78464478C>T" "" "benign" "" "0000284229" "0" "30" "4" "79385647" "79385647" "subst" "0.00121224" "02326" "FRAS1_000166" "g.79385647C>T" "" "" "" "FRAS1(NM_025074.7):c.6939C>T (p.P2313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78464493C>T" "" "likely benign" "" "0000284230" "0" "10" "4" "79385719" "79385719" "subst" "0.371724" "02326" "FRAS1_000167" "g.79385719G>A" "" "" "" "FRAS1(NM_025074.7):c.7011G>A (p.A2337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78464565G>A" "" "benign" "" "0000284231" "0" "10" "4" "79385803" "79385803" "subst" "0" "02326" "FRAS1_000170" "g.79385803G>A" "" "" "" "FRAS1(NM_025074.7):c.7029+66G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78464649G>A" "" "benign" "" "0000284232" "0" "90" "4" "79387356" "79387356" "subst" "8.16187E-6" "02326" "FRAS1_000173" "g.79387356G>A" "" "" "" "FRAS1(NM_025074.7):c.7030-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78466202G>A" "" "pathogenic" "" "0000284233" "0" "10" "4" "79387281" "79387281" "subst" "0" "02326" "FRAS1_000172" "g.79387281T>G" "" "" "" "FRAS1(NM_025074.7):c.7030-81T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78466127T>G" "" "benign" "" "0000284234" "0" "10" "4" "79387278" "79387278" "subst" "0" "02326" "FRAS1_000171" "g.79387278C>A" "" "" "" "FRAS1(NM_025074.7):c.7030-84C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78466124C>A" "" "benign" "" "0000284235" "0" "10" "4" "79387442" "79387442" "subst" "0.311127" "02326" "FRAS1_000176" "g.79387442C>T" "" "" "" "FRAS1(NM_025074.7):c.7110C>T (p.H2370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78466288C>T" "" "benign" "" "0000284236" "0" "10" "4" "79391020" "79391020" "subst" "0" "02326" "FRAS1_000179" "g.79391020C>T" "" "" "" "FRAS1(NM_025074.7):c.7258-112C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78469866C>T" "" "benign" "" "0000284237" "0" "90" "4" "79391159" "79391159" "subst" "8.14312E-6" "02326" "FRAS1_000180" "g.79391159C>T" "" "" "" "FRAS1(NM_025074.7):c.7285C>T (p.R2429*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78470005C>T" "" "pathogenic" "" "0000284238" "0" "10" "4" "79391256" "79391256" "subst" "0.988488" "02326" "FRAS1_000181" "g.79391256T>C" "" "" "" "FRAS1(NM_025074.7):c.7371+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78470102T>C" "" "benign" "" "0000284239" "0" "10" "4" "79391392" "79391392" "subst" "0" "02326" "FRAS1_000183" "g.79391392G>A" "" "" "" "FRAS1(NM_025074.7):c.7371+147G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78470238G>A" "" "benign" "" "0000284240" "0" "10" "4" "79391424" "79391424" "subst" "0" "02326" "FRAS1_000184" "g.79391424C>T" "" "" "" "FRAS1(NM_025074.7):c.7371+179C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78470270C>T" "" "benign" "" "0000284241" "0" "10" "4" "79391427" "79391427" "subst" "0" "02326" "FRAS1_000185" "g.79391427T>G" "" "" "" "FRAS1(NM_025074.7):c.7371+182T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78470273T>G" "" "benign" "" "0000284242" "0" "10" "4" "79391327" "79391327" "subst" "0" "02326" "FRAS1_000182" "g.79391327T>C" "" "" "" "FRAS1(NM_025074.7):c.7371+82T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78470173T>C" "" "benign" "" "0000284243" "0" "10" "4" "79393269" "79393269" "subst" "0" "02326" "FRAS1_000186" "g.79393269T>C" "" "" "" "FRAS1(NM_025074.7):c.7372-65T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78472115T>C" "" "benign" "" "0000284244" "0" "10" "4" "79393572" "79393572" "subst" "0" "02326" "FRAS1_000187" "g.79393572C>T" "" "" "" "FRAS1(NM_025074.7):c.7522+88C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78472418C>T" "" "benign" "" "0000284247" "0" "30" "4" "78979275" "78979276" "del" "0" "02326" "FRAS1_000007" "g.78979275_78979276del" "" "" "" "FRAS1(NM_025074.7):c.76+36_76+37delCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78058121_78058122del" "" "likely benign" "" "0000284248" "0" "10" "4" "78979275" "78979275" "subst" "0" "02326" "FRAS1_000008" "g.78979275C>T" "" "" "" "FRAS1(NM_025074.7):c.76+36C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78058121C>T" "" "benign" "" "0000284250" "0" "10" "4" "79394836" "79394836" "subst" "0" "02326" "FRAS1_000189" "g.79394836C>G" "" "" "" "FRAS1(NM_025074.7):c.7682+85C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78473682C>G" "" "benign" "" "0000284251" "0" "30" "4" "79188076" "79188076" "subst" "0.00515126" "02326" "FRAS1_000039" "g.79188076T>G" "" "" "" "FRAS1(NM_001166133.1):c.776T>G (p.(Leu259Arg)), FRAS1(NM_025074.7):c.776T>G (p.L259R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78266922T>G" "" "likely benign" "" "0000284252" "0" "30" "4" "79188101" "79188101" "subst" "0.00136261" "02326" "FRAS1_000040" "g.79188101T>G" "" "" "" "FRAS1(NM_025074.7):c.789+12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78266947T>G" "" "likely benign" "" "0000284253" "0" "10" "4" "79188161" "79188161" "subst" "0" "02326" "FRAS1_000041" "g.79188161G>A" "" "" "" "FRAS1(NM_025074.7):c.789+72G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78267007G>A" "" "benign" "" "0000284254" "0" "50" "4" "79399159" "79399161" "del" "0" "02326" "FRAS1_000192" "g.79399159_79399161del" "" "" "" "FRAS1(NM_025074.7):c.8042_8044delAGA (p.K2681del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78478005_78478007del" "" "VUS" "" "0000284255" "0" "10" "4" "79400404" "79400404" "subst" "0" "02326" "FRAS1_000194" "g.79400404C>T" "" "" "" "FRAS1(NM_025074.7):c.8099-124C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78479250C>T" "" "benign" "" "0000284256" "0" "30" "4" "79400846" "79400846" "subst" "0.00290424" "02326" "FRAS1_000197" "g.79400846C>T" "" "" "" "FRAS1(NM_025074.6):c.8417C>T (p.(Thr2806Met)), FRAS1(NM_025074.7):c.8417C>T (p.T2806M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78479692C>T" "" "likely benign" "" "0000284257" "0" "10" "4" "79400868" "79400868" "subst" "0.37203" "02326" "FRAS1_000198" "g.79400868C>T" "" "" "" "FRAS1(NM_025074.7):c.8439C>T (p.D2813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78479714C>T" "" "benign" "" "0000284258" "0" "30" "4" "79403088" "79403088" "subst" "0.0012122" "02326" "FRAS1_000200" "g.79403088G>A" "" "" "" "FRAS1(NM_025074.7):c.8574G>A (p.K2858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78481934G>A" "" "likely benign" "" "0000284259" "0" "10" "4" "79403682" "79403682" "subst" "0.162989" "02326" "FRAS1_000203" "g.79403682C>T" "" "" "" "FRAS1(NM_025074.7):c.8745C>T (p.F2915=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78482528C>T" "" "benign" "" "0000284260" "0" "10" "4" "79403747" "79403747" "subst" "0" "02326" "FRAS1_000204" "g.79403747C>A" "" "" "" "FRAS1(NM_025074.7):c.8752+58C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78482593C>A" "" "benign" "" "0000284261" "0" "10" "4" "79409899" "79409899" "subst" "0" "02326" "FRAS1_000205" "g.79409899T>C" "" "" "" "FRAS1(NM_025074.7):c.8753-130T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78488745T>C" "" "benign" "" "0000284262" "0" "10" "4" "79409997" "79409997" "subst" "0.828298" "02326" "FRAS1_000206" "g.79409997T>C" "" "" "" "FRAS1(NM_025074.7):c.8753-32T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78488843T>C" "" "benign" "" "0000284263" "0" "70" "4" "79410059" "79410059" "subst" "0" "02326" "FRAS1_000207" "g.79410059T>C" "" "" "" "FRAS1(NM_025074.7):c.8783T>C (p.L2928P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78488905T>C" "" "likely pathogenic" "" "0000284264" "0" "10" "4" "79410108" "79410108" "subst" "0.00302786" "02326" "FRAS1_000208" "g.79410108C>T" "" "" "" "FRAS1(NM_025074.7):c.8832C>T (p.S2944=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78488954C>T" "" "benign" "" "0000284265" "0" "10" "4" "79417823" "79417823" "subst" "0" "02326" "FRAS1_000210" "g.79417823T>A" "" "" "" "FRAS1(NM_025074.7):c.8959-136T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78496669T>A" "" "benign" "" "0000284266" "0" "10" "4" "79417786" "79417786" "subst" "0" "02326" "FRAS1_000209" "g.79417786C>T" "" "" "" "FRAS1(NM_025074.7):c.8959-173C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78496632C>T" "" "benign" "" "0000284267" "0" "10" "4" "79417863" "79417863" "subst" "0" "02326" "FRAS1_000211" "g.79417863G>A" "" "" "" "FRAS1(NM_025074.7):c.8959-96G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78496709G>A" "" "benign" "" "0000284268" "0" "10" "4" "79420864" "79420864" "subst" "0.50404" "02326" "FRAS1_000216" "g.79420864T>C" "" "" "" "FRAS1(NM_025074.7):c.9116-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78499710T>C" "" "benign" "" "0000284269" "0" "10" "4" "79420664" "79420664" "subst" "0" "02326" "FRAS1_000214" "g.79420664C>T" "" "" "" "FRAS1(NM_025074.7):c.9116-211C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78499510C>T" "" "benign" "" "0000284270" "0" "10" "4" "79420870" "79420870" "subst" "0.503168" "02326" "FRAS1_000218" "g.79420870C>G" "" "" "" "FRAS1(NM_025074.7):c.9116-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78499716C>G" "" "benign" "" "0000284271" "0" "10" "4" "79420869" "79420869" "subst" "0.1777" "02326" "FRAS1_000217" "g.79420869C>T" "" "" "" "FRAS1(NM_025074.7):c.9116-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78499715C>T" "" "benign" "" "0000284272" "0" "10" "4" "79420787" "79420787" "subst" "0" "02326" "FRAS1_000215" "g.79420787C>T" "" "" "" "FRAS1(NM_025074.7):c.9116-88C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78499633C>T" "" "benign" "" "0000284273" "0" "10" "4" "79421011" "79421011" "subst" "0.140228" "02326" "FRAS1_000219" "g.79421011G>T" "" "" "" "FRAS1(NM_025074.7):c.9252G>T (p.R3084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78499857G>T" "" "benign" "" "0000284274" "0" "10" "4" "79421055" "79421055" "subst" "0.00118571" "02326" "FRAS1_000220" "g.79421055G>A" "" "" "" "FRAS1(NM_025074.6):c.9296G>A (p.(Arg3099Gln)), FRAS1(NM_025074.7):c.9296G>A (p.R3099Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78499901G>A" "" "benign" "" "0000284275" "0" "10" "4" "79428447" "79428447" "subst" "0" "02326" "FRAS1_000221" "g.79428447G>A" "" "" "" "FRAS1(NM_025074.7):c.9317-128G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78507293G>A" "" "benign" "" "0000284276" "0" "90" "4" "79188539" "79188539" "subst" "8.12935E-6" "02326" "FRAS1_000044" "g.79188539C>T" "" "" "" "FRAS1(NM_025074.7):c.934C>T (p.Q312*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78267385C>T" "" "pathogenic" "" "0000284277" "0" "10" "4" "79428704" "79428704" "subst" "0.00121746" "02326" "FRAS1_000224" "g.79428704C>T" "" "" "" "FRAS1(NM_025074.6):c.9446C>T (p.(Thr3149Met)), FRAS1(NM_025074.7):c.9446C>T (p.T3149M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78507550C>T" "" "benign" "" "0000284278" "0" "10" "4" "79428796" "79428796" "subst" "0.318168" "02326" "FRAS1_000225" "g.79428796C>T" "" "" "" "FRAS1(NM_025074.7):c.9504+34C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78507642C>T" "" "benign" "" "0000284279" "0" "90" "4" "79429905" "79429905" "subst" "0" "02326" "FRAS1_000227" "g.79429905T>A" "" "" "" "FRAS1(NM_025074.7):c.9525T>A (p.Y3175*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78508751T>A" "" "pathogenic" "" "0000284280" "0" "10" "4" "79430320" "79430320" "del" "0" "02326" "FRAS1_000230" "g.79430320del" "" "" "" "FRAS1(NM_025074.7):c.9780+160delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78509166del" "" "benign" "" "0000284281" "0" "10" "4" "79188584" "79188584" "subst" "0.023022" "02326" "FRAS1_000045" "g.79188584C>T" "" "" "" "FRAS1(NM_001166133.1):c.979C>T (p.(Arg327Trp)), FRAS1(NM_025074.7):c.979C>T (p.R327W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78267430C>T" "" "benign" "" "0000284282" "0" "10" "4" "79432453" "79432453" "subst" "0.00528751" "02326" "FRAS1_000232" "g.79432453G>A" "" "" "" "FRAS1(NM_025074.6):c.9806G>A (p.(Arg3269Gln)), FRAS1(NM_025074.7):c.9806G>A (p.R3269Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78511299G>A" "" "benign" "" "0000284283" "0" "10" "4" "79188595" "79188595" "subst" "0.018797" "02326" "FRAS1_000046" "g.79188595C>T" "" "" "" "FRAS1(NM_025074.7):c.981+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78267441C>T" "" "benign" "" "0000284284" "0" "30" "4" "79432602" "79432602" "subst" "0.00274893" "02326" "FRAS1_000233" "g.79432602C>G" "" "" "" "FRAS1(NM_025074.6):c.9955C>G (p.(Gln3319Glu)), FRAS1(NM_025074.7):c.9955C>G (p.Q3319E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78511448C>G" "" "likely benign" "" "0000287873" "0" "30" "4" "79437026" "79437026" "subst" "0" "01943" "FRAS1_000245" "g.79437026T>C" "" "" "" "FRAS1(NM_025074.7):c.10248T>C (p.F3416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78515872T>C" "" "likely benign" "" "0000287874" "0" "10" "4" "79437090" "79437090" "subst" "0.00105819" "01943" "FRAS1_000246" "g.79437090G>A" "" "" "" "FRAS1(NM_025074.7):c.10312G>A (p.V3438M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78515936G>A" "" "benign" "" "0000287875" "0" "90" "4" "79443835" "79443842" "del" "0" "01943" "FRAS1_000263" "g.79443835_79443842del" "" "" "" "FRAS1(NM_025074.7):c.10681_10688delGAAGTGAA (p.E3561Ifs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78522681_78522688del" "" "pathogenic" "" "0000287876" "0" "30" "4" "79202547" "79202547" "subst" "0.00123133" "01943" "FRAS1_000048" "g.79202547C>T" "" "" "" "FRAS1(NM_025074.7):c.1072-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78281393C>T" "" "likely benign" "" "0000287877" "0" "50" "4" "79458330" "79458330" "subst" "9.34952E-5" "01943" "FRAS1_000275" "g.79458330C>A" "" "" "" "FRAS1(NM_025074.7):c.11274C>A (p.H3758Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78537176C>A" "" "VUS" "" "0000287878" "0" "30" "4" "79461934" "79461934" "subst" "0.000792567" "01943" "FRAS1_000279" "g.79461934C>T" "" "" "" "FRAS1(NM_025074.7):c.11695C>T (p.L3899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78540780C>T" "" "likely benign" "" "0000287879" "0" "30" "4" "79462184" "79462184" "subst" "5.50688E-5" "01943" "FRAS1_000283" "g.79462184C>T" "" "" "" "FRAS1(NM_025074.7):c.11945C>T (p.P3982L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78541030C>T" "" "likely benign" "" "0000287880" "0" "30" "4" "79205708" "79205708" "subst" "0" "01943" "FRAS1_000058" "g.79205708G>T" "" "" "" "FRAS1(NM_025074.7):c.1399+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78284554G>T" "" "likely benign" "" "0000287881" "0" "30" "4" "79229275" "79229275" "subst" "4.0662E-6" "01943" "FRAS1_000061" "g.79229275C>T" "" "" "" "FRAS1(NM_025074.7):c.1590C>T (p.A530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78308121C>T" "" "likely benign" "" "0000287882" "0" "10" "4" "79158715" "79158715" "subst" "0.0174494" "01943" "FRAS1_000019" "g.79158715G>C" "" "" "" "FRAS1(NM_025074.7):c.160G>C (p.D54H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78237561G>C" "" "benign" "" "0000287883" "0" "30" "4" "79236852" "79236852" "subst" "0.000641817" "01943" "FRAS1_000065" "g.79236852G>A" "" "" "" "FRAS1(NM_001166133.1):c.1783G>A (p.(Gly595Ser)), FRAS1(NM_025074.7):c.1783G>A (p.G595S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78315698G>A" "" "likely benign" "" "0000287884" "0" "30" "4" "79238620" "79238620" "subst" "0.000833333" "01943" "FRAS1_000070" "g.79238620C>T" "" "" "" "FRAS1(NM_001166133.1):c.1918C>T (p.(Arg640Cys)), FRAS1(NM_025074.7):c.1918C>T (p.R640C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78317466C>T" "" "likely benign" "" "0000287885" "0" "10" "4" "79291130" "79291130" "subst" "0.00068852" "01943" "FRAS1_000095" "g.79291130C>T" "" "" "" "FRAS1(NM_025074.7):c.2861C>T (p.T954M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78369976C>T" "" "benign" "" "0000287886" "0" "30" "4" "79295371" "79295371" "subst" "0" "01943" "FRAS1_000102" "g.79295371G>A" "" "" "" "FRAS1(NM_025074.7):c.3117G>A (p.G1039=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78374217G>A" "" "likely benign" "" "0000287887" "0" "10" "4" "79173616" "79173616" "subst" "0.0115212" "01943" "FRAS1_000026" "g.79173616C>G" "" "" "" "FRAS1(NM_025074.7):c.380C>G (p.P127R, p.(Pro127Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78252462C>G" "" "benign" "" "0000287888" "0" "50" "4" "79334181" "79334181" "subst" "2.87853E-5" "01943" "FRAS1_000122" "g.79334181T>C" "" "" "" "FRAS1(NM_025074.7):c.4367T>C (p.I1456T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78413027T>C" "" "VUS" "" "0000287889" "0" "30" "4" "79350352" "79350352" "subst" "0.00118899" "01943" "FRAS1_000137" "g.79350352G>A" "" "" "" "FRAS1(NM_025074.7):c.4815G>A (p.A1605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78429198G>A" "" "likely benign" "" "0000287890" "0" "30" "4" "79176453" "79176453" "subst" "0.000703785" "01943" "FRAS1_000029" "g.79176453G>A" "" "" "" "FRAS1(NM_001166133.1):c.527G>A (p.(Arg176Gln)), FRAS1(NM_025074.7):c.527G>A (p.R176Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78255299G>A" "" "likely benign" "" "0000287891" "0" "30" "4" "79360163" "79360163" "subst" "4.88091E-5" "01943" "FRAS1_000143" "g.79360163T>C" "" "" "" "FRAS1(NM_025074.7):c.5474T>C (p.M1825T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78439009T>C" "" "likely benign" "" "0000287892" "0" "10" "4" "79366891" "79366891" "subst" "0.01264" "01943" "FRAS1_000152" "g.79366891G>A" "" "" "" "FRAS1(NM_001166133.1):c.5881G>A (p.V1961I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78445737G>A" "" "benign" "" "0000287893" "0" "30" "4" "79368033" "79368033" "subst" "0.000109165" "01943" "FRAS1_000153" "g.79368033C>T" "" "" "" "FRAS1(NM_025074.7):c.6009C>T (p.H2003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78446879C>T" "" "likely benign" "" "0000287894" "0" "10" "4" "79188076" "79188076" "subst" "0.00515126" "01943" "FRAS1_000039" "g.79188076T>G" "" "" "" "FRAS1(NM_001166133.1):c.776T>G (p.(Leu259Arg)), FRAS1(NM_025074.7):c.776T>G (p.L259R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78266922T>G" "" "benign" "" "0000287895" "0" "10" "4" "79400644" "79400644" "subst" "0.000987529" "01943" "FRAS1_000195" "g.79400644G>A" "" "" "" "FRAS1(NM_025074.7):c.8215G>A (p.A2739T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78479490G>A" "" "benign" "" "0000287896" "0" "30" "4" "79403071" "79403071" "subst" "2.4401E-5" "01943" "FRAS1_000199" "g.79403071G>A" "" "" "" "FRAS1(NM_025074.7):c.8557G>A (p.V2853I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78481917G>A" "" "likely benign" "" "0000287897" "0" "50" "4" "79403608" "79403608" "subst" "8.13121E-6" "01943" "FRAS1_000202" "g.79403608G>A" "" "" "" "FRAS1(NM_025074.7):c.8671G>A (p.V2891I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78482454G>A" "" "VUS" "" "0000287898" "0" "30" "4" "79410108" "79410108" "subst" "0.00302786" "01943" "FRAS1_000208" "g.79410108C>T" "" "" "" "FRAS1(NM_025074.7):c.8832C>T (p.S2944=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78488954C>T" "" "likely benign" "" "0000287899" "0" "50" "4" "79188491" "79188491" "subst" "0.000959896" "01943" "FRAS1_000043" "g.79188491G>A" "" "" "" "FRAS1(NM_001166133.1):c.886G>A (p.(Glu296Lys)), FRAS1(NM_025074.7):c.886G>A (p.E296K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78267337G>A" "" "VUS" "" "0000329979" "0" "30" "4" "79188076" "79188076" "subst" "0.00515126" "01804" "FRAS1_000039" "g.79188076T>G" "" "" "" "FRAS1(NM_001166133.1):c.776T>G (p.(Leu259Arg)), FRAS1(NM_025074.7):c.776T>G (p.L259R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78266922T>G" "" "likely benign" "" "0000329981" "0" "30" "4" "79188584" "79188584" "subst" "0.023022" "01804" "FRAS1_000045" "g.79188584C>T" "" "" "" "FRAS1(NM_001166133.1):c.979C>T (p.(Arg327Trp)), FRAS1(NM_025074.7):c.979C>T (p.R327W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78267430C>T" "" "likely benign" "" "0000329983" "0" "50" "4" "79202573" "79202573" "subst" "0" "01804" "FRAS1_000049" "g.79202573G>T" "" "" "" "FRAS1(NM_001166133.1):c.1093G>T (p.(Val365Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78281419G>T" "" "VUS" "" "0000329987" "0" "50" "4" "79291096" "79291096" "subst" "4.06716E-6" "01804" "FRAS1_000094" "g.79291096G>A" "" "" "" "FRAS1(NM_001166133.1):c.2827G>A (p.(Ala943Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78369942G>A" "" "VUS" "" "0000329989" "0" "30" "4" "79295319" "79295319" "subst" "0.000717284" "01804" "FRAS1_000100" "g.79295319A>C" "" "" "" "FRAS1(NM_001166133.1):c.3065A>C (p.(Lys1022Thr)), FRAS1(NM_025074.7):c.3065A>C (p.K1022T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78374165A>C" "" "likely benign" "" "0000329990" "0" "30" "4" "79308843" "79308843" "subst" "4.67741E-5" "01804" "FRAS1_000114" "g.79308843G>C" "" "" "" "FRAS1(NM_001166133.1):c.3963G>C (p.(Lys1321Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78387689G>C" "" "likely benign" "" "0000329992" "0" "30" "4" "79343055" "79343055" "subst" "0.00274783" "01804" "FRAS1_000130" "g.79343055C>T" "" "" "" "FRAS1(NM_001166133.1):c.4579C>T (p.(Arg1527Trp)), FRAS1(NM_025074.7):c.4579C>T (p.R1527W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78421901C>T" "" "likely benign" "" "0000329994" "0" "50" "4" "79351557" "79351557" "subst" "4.07465E-6" "01804" "FRAS1_000138" "g.79351557G>A" "" "" "" "FRAS1(NM_001166133.1):c.4955G>A (p.(Arg1652Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78430403G>A" "" "VUS" "" "0000329995" "0" "50" "4" "79366679" "79366679" "subst" "0" "01804" "FRAS1_000150" "g.79366679A>T" "" "" "" "FRAS1(NM_001166133.1):c.5669A>T (p.(Asp1890Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78445525A>T" "" "VUS" "" "0000329997" "0" "30" "4" "79368042" "79368042" "subst" "0.00772473" "01804" "FRAS1_000154" "g.79368042A>G" "" "" "" "FRAS1(NM_001166133.1):c.*1101A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78446888A>G" "" "likely benign" "" "0000330000" "0" "50" "4" "79385208" "79385208" "subst" "0.000199307" "01804" "FRAS1_000162" "g.79385208T>C" "" "" "" "FRAS1(NM_025074.6):c.6797T>C (p.(Leu2266Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78464054T>C" "" "VUS" "" "0000330001" "0" "50" "4" "79385635" "79385635" "subst" "2.84736E-5" "01804" "FRAS1_000165" "g.79385635T>A" "" "" "" "FRAS1(NM_025074.6):c.6927T>A (p.(Asp2309Glu)), FRAS1(NM_025074.7):c.6927T>A (p.D2309E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78464481T>A" "" "VUS" "" "0000330002" "0" "50" "4" "79385723" "79385723" "subst" "2.84949E-5" "01804" "FRAS1_000168" "g.79385723G>C" "" "" "" "FRAS1(NM_025074.6):c.7015G>C (p.(Asp2339His)), FRAS1(NM_025074.7):c.7015G>C (p.D2339H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78464569G>C" "" "VUS" "" "0000330003" "0" "30" "4" "79387371" "79387371" "subst" "0.00140818" "01804" "FRAS1_000174" "g.79387371G>T" "" "" "" "FRAS1(NM_025074.6):c.7039G>T (p.(Val2347Phe)), FRAS1(NM_025074.7):c.7039G>T (p.V2347F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78466217G>T" "" "likely benign" "" "0000330004" "0" "30" "4" "79387435" "79387435" "subst" "0" "01804" "FRAS1_000175" "g.79387435A>G" "" "" "" "FRAS1(NM_025074.6):c.7103A>G (p.(His2368Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78466281A>G" "" "likely benign" "" "0000330005" "0" "50" "4" "79394691" "79394691" "subst" "0.00147333" "01804" "FRAS1_000188" "g.79394691A>G" "" "" "" "FRAS1(NM_025074.6):c.7622A>G (p.(Asn2541Ser)), FRAS1(NM_025074.7):c.7622A>G (p.N2541S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78473537A>G" "" "VUS" "" "0000330006" "0" "50" "4" "79396675" "79396675" "subst" "0" "01804" "FRAS1_000191" "g.79396675G>A" "" "" "" "FRAS1(NM_025074.6):c.7766G>A (p.(Cys2589Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78475521G>A" "" "VUS" "" "0000330008" "0" "30" "4" "79400846" "79400846" "subst" "0.00290424" "01804" "FRAS1_000197" "g.79400846C>T" "" "" "" "FRAS1(NM_025074.6):c.8417C>T (p.(Thr2806Met)), FRAS1(NM_025074.7):c.8417C>T (p.T2806M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78479692C>T" "" "likely benign" "" "0000330010" "0" "50" "4" "79421055" "79421055" "subst" "0.00118571" "01804" "FRAS1_000220" "g.79421055G>A" "" "" "" "FRAS1(NM_025074.6):c.9296G>A (p.(Arg3099Gln)), FRAS1(NM_025074.7):c.9296G>A (p.R3099Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78499901G>A" "" "VUS" "" "0000330012" "0" "50" "4" "79428622" "79428622" "subst" "0.000277884" "01804" "FRAS1_000223" "g.79428622C>T" "" "" "" "FRAS1(NM_025074.6):c.9364C>T (p.(Arg3122Trp)), FRAS1(NM_025074.7):c.9364C>T (p.R3122W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78507468C>T" "" "VUS" "" "0000330013" "0" "50" "4" "79428704" "79428704" "subst" "0.00121746" "01804" "FRAS1_000224" "g.79428704C>T" "" "" "" "FRAS1(NM_025074.6):c.9446C>T (p.(Thr3149Met)), FRAS1(NM_025074.7):c.9446C>T (p.T3149M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78507550C>T" "" "VUS" "" "0000330016" "0" "50" "4" "79430030" "79430030" "subst" "1.62994E-5" "01804" "FRAS1_000229" "g.79430030G>A" "" "" "" "FRAS1(NM_025074.6):c.9650G>A (p.(Ser3217Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78508876G>A" "" "VUS" "" "0000330017" "0" "30" "4" "79432602" "79432602" "subst" "0.00274893" "01804" "FRAS1_000233" "g.79432602C>G" "" "" "" "FRAS1(NM_025074.6):c.9955C>G (p.(Gln3319Glu)), FRAS1(NM_025074.7):c.9955C>G (p.Q3319E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78511448C>G" "" "likely benign" "" "0000330018" "0" "30" "4" "79432620" "79432620" "subst" "0" "01804" "FRAS1_000234" "g.79432620T>G" "" "" "" "FRAS1(NM_025074.6):c.9973T>G (p.(Leu3325Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78511466T>G" "" "likely benign" "" "0000330020" "0" "50" "4" "79442694" "79442694" "subst" "7.44953E-5" "01804" "FRAS1_000256" "g.79442694G>A" "" "" "" "FRAS1(NM_025074.6):c.10558G>A (p.(Val3520Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78521540G>A" "" "VUS" "" "0000330022" "0" "50" "4" "79462141" "79462141" "subst" "7.74221E-5" "01804" "FRAS1_000281" "g.79462141A>G" "" "" "" "FRAS1(NM_025074.6):c.11902A>G (p.(Arg3968Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78540987A>G" "" "VUS" "" "0000330023" "0" "50" "4" "79462157" "79462157" "subst" "0" "01804" "FRAS1_000282" "g.79462157T>C" "" "" "" "FRAS1(NM_025074.6):c.11918T>C (p.(Val3973Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78541003T>C" "" "VUS" "" "0000342606" "0" "50" "4" "79428622" "79428622" "subst" "0.000277884" "02327" "FRAS1_000223" "g.79428622C>T" "" "" "" "FRAS1(NM_025074.6):c.9364C>T (p.(Arg3122Trp)), FRAS1(NM_025074.7):c.9364C>T (p.R3122W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78507468C>T" "" "VUS" "" "0000344176" "0" "10" "4" "79240063" "79240063" "subst" "0.412279" "02327" "FRAS1_000072" "g.79240063A>G" "" "" "" "FRAS1(NM_025074.7):c.2060A>G (p.D687G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78318909A>G" "" "benign" "" "0000407993" "0" "50" "4" "79460480" "79460480" "subst" "0" "00006" "FRAS1_000294" "g.79460480C>T" "" "{PMID:de Ligt 2012:23033978}" "" "NM_025074.6:c.11331C>T (=)" "variant not associated with phenotype" "De novo" "" "" "0" "" "" "g.78539326C>T" "" "VUS" "" "0000523173" "0" "10" "4" "78979269" "78979274" "dup" "0" "02326" "FRAS1_000295" "g.78979269_78979274dup" "" "" "" "FRAS1(NM_025074.7):c.76+27_76+32dupGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78058115_78058120dup" "" "benign" "" "0000523174" "0" "10" "4" "78979273" "78979274" "dup" "0" "02326" "FRAS1_000296" "g.78979273_78979274dup" "" "" "" "FRAS1(NM_025074.7):c.76+33_76+34dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78058119_78058120dup" "" "benign" "" "0000523175" "0" "30" "4" "78987169" "78987169" "subst" "4.9161E-5" "01943" "FRAS1_000297" "g.78987169C>T" "" "" "" "FRAS1(NM_025074.7):c.107C>T (p.A36V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78066015C>T" "" "likely benign" "" "0000523177" "0" "30" "4" "79158756" "79158756" "subst" "0.00301393" "01943" "FRAS1_000298" "g.79158756A>G" "" "" "" "FRAS1(NM_025074.7):c.201A>G (p.Q67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78237602A>G" "" "likely benign" "" "0000523178" "0" "30" "4" "79166478" "79166478" "subst" "0.0105771" "01804" "FRAS1_000021" "g.79166478A>T" "" "" "" "FRAS1(NM_001166133.1):c.308A>T (p.(Glu103Val)), FRAS1(NM_025074.7):c.308A>T (p.E103V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78245324A>T" "" "likely benign" "" "0000523180" "0" "10" "4" "79173616" "79173616" "subst" "0.0115212" "01804" "FRAS1_000026" "g.79173616C>G" "" "" "" "FRAS1(NM_025074.7):c.380C>G (p.P127R, p.(Pro127Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78252462C>G" "" "benign" "" "0000523181" "0" "70" "4" "79173705" "79173705" "subst" "4.11801E-6" "01804" "FRAS1_000300" "g.79173705A>T" "" "" "" "FRAS1(NM_001166133.1):c.469A>T (p.(Lys157Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78252551A>T" "" "likely pathogenic" "" "0000523182" "0" "10" "4" "79176245" "79176245" "subst" "0" "02326" "FRAS1_000301" "g.79176245G>A" "" "" "" "FRAS1(NM_025074.7):c.470-151G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78255091G>A" "" "benign" "" "0000523183" "0" "10" "4" "79176361" "79176361" "subst" "0.978709" "02326" "FRAS1_000302" "g.79176361T>C" "" "" "" "FRAS1(NM_025074.7):c.470-35T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78255207T>C" "" "benign" "" "0000523184" "0" "30" "4" "79176444" "79176444" "subst" "0.0110196" "01804" "FRAS1_000028" "g.79176444G>A" "" "" "" "FRAS1(NM_001166133.1):c.518G>A (p.(Arg173Gln)), FRAS1(NM_025074.7):c.518G>A (p.R173Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78255290G>A" "" "likely benign" "" "0000523185" "0" "30" "4" "79176453" "79176453" "subst" "0.000703785" "01804" "FRAS1_000029" "g.79176453G>A" "" "" "" "FRAS1(NM_001166133.1):c.527G>A (p.(Arg176Gln)), FRAS1(NM_025074.7):c.527G>A (p.R176Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78255299G>A" "" "likely benign" "" "0000523186" "0" "50" "4" "79176465" "79176465" "subst" "0" "01943" "FRAS1_000303" "g.79176465G>T" "" "" "" "FRAS1(NM_025074.7):c.539G>T (p.C180F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78255311G>T" "" "VUS" "" "0000523187" "0" "10" "4" "79186171" "79186171" "subst" "0.977268" "02325" "FRAS1_000304" "g.79186171G>A" "" "" "" "FRAS1(NM_025074.7):c.604-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78265017G>A" "" "benign" "" "0000523188" "0" "10" "4" "79186171" "79186171" "subst" "0.977268" "02326" "FRAS1_000304" "g.79186171G>A" "" "" "" "FRAS1(NM_025074.7):c.604-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78265017G>A" "" "benign" "" "0000523189" "0" "50" "4" "79186216" "79186216" "subst" "0.00135531" "01943" "FRAS1_000305" "g.79186216C>T" "" "" "" "FRAS1(NM_025074.7):c.641C>T (p.P214L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78265062C>T" "" "VUS" "" "0000523190" "0" "30" "4" "79188006" "79188006" "subst" "0.000108584" "01943" "FRAS1_000306" "g.79188006G>A" "" "" "" "FRAS1(NM_025074.7):c.706G>A (p.E236K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78266852G>A" "" "likely benign" "" "0000523191" "0" "30" "4" "79188027" "79188027" "subst" "0.00378411" "01804" "FRAS1_000307" "g.79188027A>G" "" "" "" "FRAS1(NM_001166133.1):c.727A>G (p.(Ile243Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78266873A>G" "" "likely benign" "" "0000523192" "0" "30" "4" "79188096" "79188096" "subst" "0" "01943" "FRAS1_000308" "g.79188096G>A" "" "" "" "FRAS1(NM_025074.7):c.789+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78266942G>A" "" "likely benign" "" "0000523193" "0" "10" "4" "79188160" "79188160" "subst" "0" "02326" "FRAS1_000309" "g.79188160C>T" "" "" "" "FRAS1(NM_025074.7):c.789+71C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78267006C>T" "" "benign" "" "0000523196" "0" "30" "4" "79188491" "79188491" "subst" "0.000959896" "01804" "FRAS1_000043" "g.79188491G>A" "" "" "" "FRAS1(NM_001166133.1):c.886G>A (p.(Glu296Lys)), FRAS1(NM_025074.7):c.886G>A (p.E296K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78267337G>A" "" "likely benign" "" "0000523197" "0" "30" "4" "79188574" "79188574" "subst" "0.000101826" "01943" "FRAS1_000311" "g.79188574G>A" "" "" "" "FRAS1(NM_025074.7):c.969G>A (p.V323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78267420G>A" "" "likely benign" "" "0000523198" "0" "30" "4" "79203966" "79203966" "subst" "0" "01943" "FRAS1_000312" "g.79203966T>C" "" "" "" "FRAS1(NM_025074.7):c.1108-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78282812T>C" "" "likely benign" "" "0000523199" "0" "30" "4" "79205589" "79205589" "subst" "0.00364771" "01804" "FRAS1_000313" "g.79205589C>A" "" "" "" "FRAS1(NM_001166133.1):c.1286C>A (p.(Ser429Tyr)), FRAS1(NM_025074.7):c.1286C>A (p.S429Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78284435C>A" "" "likely benign" "" "0000523200" "0" "30" "4" "79205636" "79205636" "subst" "0" "01943" "FRAS1_000314" "g.79205636C>T" "" "" "" "FRAS1(NM_025074.7):c.1333C>T (p.L445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78284482C>T" "" "likely benign" "" "0000523201" "0" "50" "4" "79207645" "79207645" "subst" "8.13378E-5" "01804" "FRAS1_000315" "g.79207645G>T" "" "" "" "FRAS1(NM_001166133.1):c.1486G>T (p.(Val496Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78286491G>T" "" "VUS" "" "0000523203" "0" "10" "4" "79229302" "79229302" "subst" "0.0367758" "02326" "FRAS1_000317" "g.79229302A>G" "" "" "" "FRAS1(NM_025074.7):c.1617A>G (p.R539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78308148A>G" "" "benign" "" "0000523204" "0" "30" "4" "79229320" "79229320" "subst" "0.000528288" "01943" "FRAS1_000318" "g.79229320C>T" "" "" "" "FRAS1(NM_025074.7):c.1635C>T (p.S545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78308166C>T" "" "likely benign" "" "0000523205" "0" "10" "4" "79236779" "79236779" "subst" "0.00307158" "01943" "FRAS1_000319" "g.79236779C>T" "" "" "" "FRAS1(NM_025074.7):c.1710C>T (p.P570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78315625C>T" "" "benign" "" "0000523207" "0" "30" "4" "79236852" "79236852" "subst" "0.000641817" "01804" "FRAS1_000065" "g.79236852G>A" "" "" "" "FRAS1(NM_001166133.1):c.1783G>A (p.(Gly595Ser)), FRAS1(NM_025074.7):c.1783G>A (p.G595S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78315698G>A" "" "likely benign" "" "0000523210" "0" "90" "4" "79238589" "79238589" "dup" "0" "02326" "FRAS1_000323" "g.79238589dup" "" "" "" "FRAS1(NM_025074.7):c.1887dupC (p.K630Qfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78317435dup" "" "pathogenic" "" "0000523211" "0" "50" "4" "79238599" "79238599" "subst" "3.65776E-5" "01943" "FRAS1_000324" "g.79238599C>T" "" "" "" "FRAS1(NM_025074.7):c.1897C>T (p.R633C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78317445C>T" "" "VUS" "" "0000523212" "0" "30" "4" "79238620" "79238620" "subst" "0.000833333" "01804" "FRAS1_000070" "g.79238620C>T" "" "" "" "FRAS1(NM_001166133.1):c.1918C>T (p.(Arg640Cys)), FRAS1(NM_025074.7):c.1918C>T (p.R640C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78317466C>T" "" "likely benign" "" "0000523213" "0" "30" "4" "79238620" "79238620" "subst" "0.000833333" "02325" "FRAS1_000070" "g.79238620C>T" "" "" "" "FRAS1(NM_001166133.1):c.1918C>T (p.(Arg640Cys)), FRAS1(NM_025074.7):c.1918C>T (p.R640C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78317466C>T" "" "likely benign" "" "0000523217" "0" "30" "4" "79254423" "79254423" "dup" "0" "01943" "FRAS1_000328" "g.79254423dup" "" "" "" "FRAS1(NM_001166133.1):c.2138-8_2138-7insC (p.(=)), FRAS1(NM_025074.7):c.2138-3dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78333269dup" "" "likely benign" "" "0000523218" "0" "30" "4" "79254423" "79254423" "dup" "0" "01804" "FRAS1_000328" "g.79254423dup" "" "" "" "FRAS1(NM_001166133.1):c.2138-8_2138-7insC (p.(=)), FRAS1(NM_025074.7):c.2138-3dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78333269dup" "" "likely benign" "" "0000523219" "0" "50" "4" "79254474" "79254474" "subst" "0" "02326" "FRAS1_000329" "g.79254474G>T" "" "" "" "FRAS1(NM_025074.7):c.2186G>T (p.C729F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78333320G>T" "" "VUS" "" "0000523220" "0" "50" "4" "79258894" "79258894" "subst" "0.000154386" "01943" "FRAS1_000330" "g.79258894A>T" "" "" "" "FRAS1(NM_025074.7):c.2345A>T (p.H782L, p.(His782Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78337740A>T" "" "VUS" "" "0000523221" "0" "30" "4" "79258955" "79258955" "subst" "2.03183E-5" "01943" "FRAS1_000331" "g.79258955C>T" "" "" "" "FRAS1(NM_025074.7):c.2406C>T (p.L802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78337801C>T" "" "likely benign" "" "0000523222" "0" "30" "4" "79285084" "79285084" "subst" "0.000596408" "01943" "FRAS1_000089" "g.79285084C>T" "" "" "" "FRAS1(NM_025074.7):c.2598C>T (p.T866=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78363930C>T" "" "likely benign" "" "0000523223" "0" "30" "4" "79291104" "79291104" "subst" "0.000235912" "01943" "FRAS1_000332" "g.79291104G>A" "" "" "" "FRAS1(NM_025074.7):c.2835G>A (p.Q945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78369950G>A" "" "likely benign" "" "0000523225" "0" "50" "4" "79293937" "79293937" "subst" "8.13901E-6" "02325" "FRAS1_000333" "g.79293937G>A" "" "" "" "FRAS1(NM_025074.7):c.2935G>A (p.(Gly979Ser), p.G979S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78372783G>A" "" "VUS" "" "0000523226" "0" "50" "4" "79293958" "79293958" "subst" "0.000289003" "01943" "FRAS1_000097" "g.79293958G>A" "" "" "" "FRAS1(NM_025074.7):c.2956G>A (p.A986T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78372804G>A" "" "VUS" "" "0000523227" "0" "50" "4" "79295312" "79295312" "subst" "0.000790913" "01943" "FRAS1_000099" "g.79295312C>T" "" "" "" "FRAS1(NM_025074.7):c.3058C>T (p.R1020C, p.(Arg1020Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78374158C>T" "" "VUS" "" "0000523230" "0" "30" "4" "79295419" "79295420" "dup" "0" "02325" "FRAS1_000106" "g.79295419_79295420dup" "" "" "" "FRAS1(NM_025074.7):c.3151+14_3151+15dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78374265_78374266dup" "" "likely benign" "" "0000523231" "0" "10" "4" "79295419" "79295420" "ins" "0" "02326" "FRAS1_000107" "g.79295419_79295420insTG" "" "" "" "FRAS1(NM_025074.7):c.3151+14_3151+15insTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78374265_78374266insTG" "" "benign" "" "0000523232" "0" "30" "4" "79296919" "79296919" "subst" "4.29398E-6" "01804" "FRAS1_000334" "g.79296919A>C" "" "" "" "FRAS1(NM_001166133.1):c.3178A>C (p.(Ser1060Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78375765A>C" "" "likely benign" "" "0000523234" "0" "50" "4" "79301006" "79301006" "subst" "0" "02326" "FRAS1_000336" "g.79301006T>G" "" "" "" "FRAS1(NM_025074.7):c.3419T>G (p.F1140C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78379852T>G" "" "VUS" "" "0000523235" "0" "30" "4" "79301080" "79301080" "subst" "4.06752E-6" "01943" "FRAS1_000337" "g.79301080G>A" "" "" "" "FRAS1(NM_025074.7):c.3493G>A (p.A1165T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78379926G>A" "" "likely benign" "" "0000523237" "0" "30" "4" "79308580" "79308580" "subst" "0.000211664" "01943" "FRAS1_000339" "g.79308580G>A" "" "" "" "FRAS1(NM_025074.7):c.3700G>A (p.A1234T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78387426G>A" "" "likely benign" "" "0000523238" "0" "90" "4" "79308610" "79308610" "subst" "2.84548E-5" "02329" "FRAS1_000340" "g.79308610C>T" "" "" "" "FRAS1(NM_025074.7):c.3730C>T (p.R1244*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78387456C>T" "" "pathogenic" "" "0000523239" "0" "30" "4" "79308672" "79308672" "subst" "0" "01943" "FRAS1_000341" "g.79308672A>G" "" "" "" "FRAS1(NM_025074.7):c.3792A>G (p.Q1264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78387518A>G" "" "likely benign" "" "0000523240" "0" "10" "4" "79321771" "79321772" "ins" "0" "02326" "FRAS1_000342" "g.79321771_79321772insTC" "" "" "" "FRAS1(NM_025074.7):c.3976-117_3976-116insTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78400617_78400618insTC" "" "benign" "" "0000523241" "0" "50" "4" "79328846" "79328846" "subst" "0.00127986" "01943" "FRAS1_000343" "g.79328846G>T" "" "" "" "FRAS1(NM_025074.7):c.4159G>T (p.A1387S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78407692G>T" "" "VUS" "" "0000523242" "0" "50" "4" "79328847" "79328847" "subst" "0.00128412" "01943" "FRAS1_000344" "g.79328847C>T" "" "" "" "FRAS1(NM_025074.7):c.4160C>T (p.A1387V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78407693C>T" "" "VUS" "" "0000523243" "0" "50" "4" "79328875" "79328875" "subst" "0" "01943" "FRAS1_000345" "g.79328875C>A" "" "" "" "FRAS1(NM_025074.7):c.4188C>A (p.H1396Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78407721C>A" "" "VUS" "" "0000523245" "0" "50" "4" "79334178" "79334178" "subst" "0.000321429" "01943" "FRAS1_000346" "g.79334178C>T" "" "" "" "FRAS1(NM_025074.7):c.4364C>T (p.A1455V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78413024C>T" "" "VUS" "" "0000523247" "0" "30" "4" "79334178" "79334178" "subst" "0.000321429" "02325" "FRAS1_000346" "g.79334178C>T" "" "" "" "FRAS1(NM_025074.7):c.4364C>T (p.A1455V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78413024C>T" "" "likely benign" "" "0000523248" "0" "30" "4" "79334179" "79334179" "subst" "4.94805E-5" "01943" "FRAS1_000347" "g.79334179G>A" "" "" "" "FRAS1(NM_025074.7):c.4365G>A (p.A1455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78413025G>A" "" "likely benign" "" "0000523249" "0" "30" "4" "79340189" "79340189" "subst" "4.41073E-6" "01943" "FRAS1_000348" "g.79340189C>T" "" "" "" "FRAS1(NM_025074.7):c.4512C>T (p.N1504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78419035C>T" "" "likely benign" "" "0000523250" "0" "30" "4" "79343055" "79343055" "subst" "0.00274783" "01943" "FRAS1_000130" "g.79343055C>T" "" "" "" "FRAS1(NM_001166133.1):c.4579C>T (p.(Arg1527Trp)), FRAS1(NM_025074.7):c.4579C>T (p.R1527W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78421901C>T" "" "likely benign" "" "0000523251" "0" "30" "4" "79343055" "79343055" "subst" "0.00274783" "02326" "FRAS1_000130" "g.79343055C>T" "" "" "" "FRAS1(NM_001166133.1):c.4579C>T (p.(Arg1527Trp)), FRAS1(NM_025074.7):c.4579C>T (p.R1527W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78421901C>T" "" "likely benign" "" "0000523252" "0" "30" "4" "79343124" "79343124" "subst" "0.00231682" "01804" "FRAS1_000349" "g.79343124C>T" "" "" "" "FRAS1(NM_001166133.1):c.4648C>T (p.(Leu1550Phe)), FRAS1(NM_025074.7):c.4648C>T (p.L1550F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78421970C>T" "" "likely benign" "" "0000523253" "0" "30" "4" "79343124" "79343124" "subst" "0.00231682" "02326" "FRAS1_000349" "g.79343124C>T" "" "" "" "FRAS1(NM_001166133.1):c.4648C>T (p.(Leu1550Phe)), FRAS1(NM_025074.7):c.4648C>T (p.L1550F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78421970C>T" "" "likely benign" "" "0000523254" "0" "30" "4" "79343132" "79343132" "subst" "0.0003071" "01943" "FRAS1_000350" "g.79343132G>A" "" "" "" "FRAS1(NM_025074.7):c.4656G>A (p.E1552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78421978G>A" "" "likely benign" "" "0000523255" "0" "10" "4" "79351252" "79351252" "subst" "0" "02326" "FRAS1_000351" "g.79351252C>G" "" "" "" "FRAS1(NM_025074.7):c.4844-194C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78430098C>G" "" "benign" "" "0000523256" "0" "10" "4" "79351479" "79351479" "subst" "0.00105237" "01943" "FRAS1_000352" "g.79351479C>T" "" "" "" "FRAS1(NM_025074.7):c.4877C>T (p.A1626V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78430325C>T" "" "benign" "" "0000523258" "0" "30" "4" "79351542" "79351542" "subst" "0.0020753" "01804" "FRAS1_000353" "g.79351542C>T" "" "" "" "FRAS1(NM_001166133.1):c.4940C>T (p.(Thr1647Ile)), FRAS1(NM_025074.7):c.4940C>T (p.T1647I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78430388C>T" "" "likely benign" "" "0000523259" "0" "30" "4" "79353547" "79353547" "subst" "2.11861E-5" "01804" "FRAS1_000354" "g.79353547C>T" "" "" "" "FRAS1(NM_001166133.1):c.5006C>T (p.(Ala1669Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78432393C>T" "" "likely benign" "" "0000523260" "0" "10" "4" "79353587" "79353587" "subst" "0.00368865" "01943" "FRAS1_000355" "g.79353587C>G" "" "" "" "FRAS1(NM_025074.7):c.5046C>G (p.D1682E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78432433C>G" "" "benign" "" "0000523262" "0" "50" "4" "79353587" "79353587" "subst" "0.00368865" "02325" "FRAS1_000355" "g.79353587C>G" "" "" "" "FRAS1(NM_025074.7):c.5046C>G (p.D1682E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78432433C>G" "" "VUS" "" "0000523263" "0" "30" "4" "79360163" "79360163" "subst" "0.00164731" "01943" "FRAS1_000356" "g.79360163T>G" "" "" "" "FRAS1(NM_001166133.1):c.5474T>G (p.(Met1825Arg)), FRAS1(NM_025074.7):c.5474T>G (p.M1825R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78439009T>G" "" "likely benign" "" "0000523264" "0" "30" "4" "79360163" "79360163" "subst" "0.00164731" "01804" "FRAS1_000356" "g.79360163T>G" "" "" "" "FRAS1(NM_001166133.1):c.5474T>G (p.(Met1825Arg)), FRAS1(NM_025074.7):c.5474T>G (p.M1825R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78439009T>G" "" "likely benign" "" "0000523266" "0" "10" "4" "79360372" "79360372" "subst" "0" "02326" "FRAS1_000358" "g.79360372A>G" "" "" "" "FRAS1(NM_025074.7):c.5529+154A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78439218A>G" "" "benign" "" "0000523267" "0" "10" "4" "79362209" "79362209" "subst" "0" "02326" "FRAS1_000359" "g.79362209A>G" "" "" "" "FRAS1(NM_025074.7):c.5530-107A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78441055A>G" "" "benign" "" "0000523268" "0" "50" "4" "79362326" "79362326" "subst" "0" "01943" "FRAS1_000360" "g.79362326G>T" "" "" "" "FRAS1(NM_025074.7):c.5540G>T (p.G1847V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78441172G>T" "" "VUS" "" "0000523269" "0" "30" "4" "79366713" "79366713" "subst" "4.09991E-5" "01943" "FRAS1_000361" "g.79366713G>A" "" "" "" "FRAS1(NM_025074.7):c.5703G>A (p.E1901=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78445559G>A" "" "likely benign" "" "0000523270" "0" "50" "4" "79366832" "79366832" "subst" "8.12519E-6" "01804" "FRAS1_000362" "g.79366832G>A" "" "" "" "FRAS1(NM_001166133.1):c.5822G>A (p.(Arg1941His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78445678G>A" "" "VUS" "" "0000523272" "0" "30" "4" "79367971" "79367971" "subst" "0.000278326" "01943" "FRAS1_000364" "g.79367971C>T" "" "" "" "FRAS1(NM_025074.7):c.5947C>T (p.L1983=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78446817C>T" "" "likely benign" "" "0000523273" "0" "10" "4" "79371331" "79371331" "subst" "0.000788419" "01943" "FRAS1_000155" "g.79371331C>T" "" "" "" "FRAS1(NM_025074.7):c.6301C>T (p.H2101Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78450177C>T" "" "benign" "" "0000523274" "0" "10" "4" "79371579" "79371579" "subst" "0" "02326" "FRAS1_000365" "g.79371579G>A" "" "" "" "FRAS1(NM_025074.7):c.6463+86G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78450425G>A" "" "benign" "" "0000523276" "0" "30" "4" "79373353" "79373353" "subst" "0.00668548" "01804" "FRAS1_000367" "g.79373353C>T" "" "" "" "FRAS1(NM_025074.6):c.6608C>T (p.(Thr2203Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78452199C>T" "" "likely benign" "" "0000523277" "0" "30" "4" "79373436" "79373436" "subst" "0.0066496" "01804" "FRAS1_000368" "g.79373436G>A" "" "" "" "FRAS1(NM_025074.6):c.6691G>A (p.(Gly2231Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78452282G>A" "" "likely benign" "" "0000523278" "0" "30" "4" "79373499" "79373499" "subst" "0.00650709" "01804" "FRAS1_000369" "g.79373499G>A" "" "" "" "FRAS1(NM_025074.6):c.6754G>A (p.(Ala2252Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78452345G>A" "" "likely benign" "" "0000523279" "0" "50" "4" "79385635" "79385635" "subst" "2.84736E-5" "01943" "FRAS1_000165" "g.79385635T>A" "" "" "" "FRAS1(NM_025074.6):c.6927T>A (p.(Asp2309Glu)), FRAS1(NM_025074.7):c.6927T>A (p.D2309E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78464481T>A" "" "VUS" "" "0000523280" "0" "50" "4" "79385723" "79385723" "subst" "2.84949E-5" "01943" "FRAS1_000168" "g.79385723G>C" "" "" "" "FRAS1(NM_025074.6):c.7015G>C (p.(Asp2339His)), FRAS1(NM_025074.7):c.7015G>C (p.D2339H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78464569G>C" "" "VUS" "" "0000523281" "0" "50" "4" "79387359" "79387359" "subst" "4.07967E-6" "01943" "FRAS1_000370" "g.79387359C>G" "" "" "" "FRAS1(NM_025074.7):c.7030-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78466205C>G" "" "VUS" "" "0000523282" "0" "50" "4" "79387371" "79387371" "subst" "0.00140818" "01943" "FRAS1_000174" "g.79387371G>T" "" "" "" "FRAS1(NM_025074.6):c.7039G>T (p.(Val2347Phe)), FRAS1(NM_025074.7):c.7039G>T (p.V2347F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78466217G>T" "" "VUS" "" "0000523283" "0" "30" "4" "79387371" "79387371" "subst" "0.00140818" "02326" "FRAS1_000174" "g.79387371G>T" "" "" "" "FRAS1(NM_025074.6):c.7039G>T (p.(Val2347Phe)), FRAS1(NM_025074.7):c.7039G>T (p.V2347F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78466217G>T" "" "likely benign" "" "0000523284" "0" "30" "4" "79387385" "79387385" "subst" "0.000231819" "01943" "FRAS1_000371" "g.79387385C>T" "" "" "" "FRAS1(NM_025074.7):c.7053C>T (p.I2351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78466231C>T" "" "likely benign" "" "0000523285" "0" "50" "4" "79387555" "79387555" "subst" "0.000472017" "01804" "FRAS1_000291" "g.79387555A>G" "" "" "" "FRAS1(NM_025074.6):c.7223A>G (p.(Asn2408Ser)), FRAS1(NM_025074.7):c.7223A>G (p.N2408S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78466401A>G" "" "VUS" "" "0000523286" "0" "50" "4" "79387582" "79387582" "subst" "7.80653E-5" "01804" "FRAS1_000372" "g.79387582G>A" "" "" "" "FRAS1(NM_025074.6):c.7250G>A (p.(Gly2417Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78466428G>A" "" "VUS" "" "0000523287" "0" "10" "4" "79391036" "79391036" "subst" "0" "02326" "FRAS1_000373" "g.79391036T>C" "" "" "" "FRAS1(NM_025074.7):c.7258-96T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78469882T>C" "" "benign" "" "0000523288" "0" "50" "4" "79391175" "79391175" "subst" "2.03528E-5" "01943" "FRAS1_000374" "g.79391175C>T" "" "" "" "FRAS1(NM_025074.7):c.7301C>T (p.P2434L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78470021C>T" "" "VUS" "" "0000523290" "0" "50" "4" "79393413" "79393413" "subst" "0.000472378" "01943" "FRAS1_000376" "g.79393413C>T" "" "" "" "FRAS1(NM_025074.7):c.7451C>T (p.T2484M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78472259C>T" "" "VUS" "" "0000523291" "0" "50" "4" "79393428" "79393428" "subst" "4.0829E-6" "01943" "FRAS1_000377" "g.79393428A>G" "" "" "" "FRAS1(NM_025074.7):c.7466A>G (p.H2489R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78472274A>G" "" "VUS" "" "0000523292" "0" "10" "4" "79394957" "79394958" "ins" "0" "02326" "FRAS1_000378" "g.79394957_79394958insTA" "" "" "" "FRAS1(NM_025074.7):c.7682+206_7682+207insTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78473803_78473804insTA" "" "benign" "" "0000523294" "0" "30" "4" "79396766" "79396766" "dup" "0" "01943" "FRAS1_000380" "g.79396766dup" "" "" "" "FRAS1(NM_025074.7):c.7851+6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78475612dup" "" "likely benign" "" "0000523297" "0" "30" "4" "79410216" "79410216" "subst" "0.000904963" "01943" "FRAS1_000383" "g.79410216A>G" "" "" "" "FRAS1(NM_025074.7):c.8940A>G (p.T2980=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78489062A>G" "" "likely benign" "" "0000523299" "0" "30" "4" "79418097" "79418097" "subst" "4.07471E-6" "01804" "FRAS1_000385" "g.79418097A>G" "" "" "" "FRAS1(NM_025074.6):c.9097A>G (p.(Ile3033Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78496943A>G" "" "likely benign" "" "0000523301" "0" "50" "4" "79421051" "79421051" "subst" "0" "01943" "FRAS1_000387" "g.79421051A>G" "" "" "" "FRAS1(NM_025074.7):c.9292A>G (p.S3098G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78499897A>G" "" "VUS" "" "0000523302" "0" "50" "4" "79428621" "79428621" "subst" "0" "01943" "FRAS1_000388" "g.79428621C>A" "" "" "" "FRAS1(NM_025074.7):c.9363C>A (p.D3121E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78507467C>A" "" "VUS" "" "0000523303" "0" "50" "4" "79428622" "79428622" "subst" "0.000277884" "01943" "FRAS1_000223" "g.79428622C>T" "" "" "" "FRAS1(NM_025074.6):c.9364C>T (p.(Arg3122Trp)), FRAS1(NM_025074.7):c.9364C>T (p.R3122W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78507468C>T" "" "VUS" "" "0000523305" "0" "30" "4" "79432453" "79432453" "subst" "0.00528751" "01804" "FRAS1_000232" "g.79432453G>A" "" "" "" "FRAS1(NM_025074.6):c.9806G>A (p.(Arg3269Gln)), FRAS1(NM_025074.7):c.9806G>A (p.R3269Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78511299G>A" "" "likely benign" "" "0000523306" "0" "50" "4" "79432474" "79432474" "subst" "0.000416221" "01804" "FRAS1_000390" "g.79432474T>C" "" "" "" "FRAS1(NM_025074.6):c.9827T>C (p.(Val3276Ala)), FRAS1(NM_025074.7):c.9827T>C (p.V3276A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78511320T>C" "" "VUS" "" "0000523307" "0" "10" "4" "79432782" "79432782" "subst" "0" "02326" "FRAS1_000391" "g.79432782A>G" "" "" "" "FRAS1(NM_025074.7):c.10013+122A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78511628A>G" "" "benign" "" "0000523308" "0" "10" "4" "79434681" "79434681" "subst" "0.000919626" "01943" "FRAS1_000392" "g.79434681C>T" "" "" "" "FRAS1(NM_025074.7):c.10149C>T (p.T3383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78513527C>T" "" "benign" "" "0000523310" "0" "50" "4" "79440521" "79440521" "subst" "0.000465015" "01943" "FRAS1_000393" "g.79440521G>A" "" "" "" "FRAS1(NM_025074.7):c.10426G>A (p.V3476M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78519367G>A" "" "VUS" "" "0000523311" "0" "10" "4" "79455714" "79455714" "subst" "0.48984" "02325" "FRAS1_000394" "g.79455714C>G" "" "" "" "FRAS1(NM_025074.7):c.11037C>G (p.P3679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78534560C>G" "" "benign" "" "0000523312" "0" "10" "4" "79455714" "79455714" "subst" "0.48984" "02326" "FRAS1_000394" "g.79455714C>G" "" "" "" "FRAS1(NM_025074.7):c.11037C>G (p.P3679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78534560C>G" "" "benign" "" "0000523313" "0" "10" "4" "79458112" "79458112" "subst" "0.14165" "02326" "FRAS1_000395" "g.79458112A>G" "" "" "" "FRAS1(NM_025074.7):c.11093-37A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78536958A>G" "" "benign" "" "0000523314" "0" "50" "4" "79458320" "79458320" "subst" "0.000922472" "01943" "FRAS1_000396" "g.79458320C>T" "" "" "" "FRAS1(NM_025074.7):c.11264C>T (p.P3755L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78537166C>T" "" "VUS" "" "0000523315" "0" "10" "4" "79458522" "79458522" "subst" "0" "02326" "FRAS1_000397" "g.79458522A>G" "" "" "" "FRAS1(NM_025074.7):c.11298+168A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78537368A>G" "" "benign" "" "0000523316" "0" "10" "4" "79460375" "79460375" "subst" "0" "02326" "FRAS1_000398" "g.79460375C>T" "" "" "" "FRAS1(NM_025074.7):c.11299-73C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78539221C>T" "" "benign" "" "0000523317" "0" "50" "4" "79460535" "79460535" "subst" "0" "01943" "FRAS1_000399" "g.79460535G>T" "" "" "" "FRAS1(NM_025074.7):c.11386G>T (p.V3796L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78539381G>T" "" "VUS" "" "0000523318" "0" "90" "4" "79461783" "79461783" "del" "0" "01943" "FRAS1_000278" "g.79461783del" "" "" "" "FRAS1(NM_025074.7):c.11544delC (p.R3849Dfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78540629del" "" "pathogenic" "" "0000523319" "0" "90" "4" "79461783" "79461783" "del" "0" "02329" "FRAS1_000278" "g.79461783del" "" "" "" "FRAS1(NM_025074.7):c.11544delC (p.R3849Dfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78540629del" "" "pathogenic" "" "0000523320" "0" "30" "4" "79461792" "79461792" "subst" "0" "01804" "FRAS1_000400" "g.79461792C>A" "" "" "" "FRAS1(NM_025074.6):c.11553C>A (p.(Asn3851Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78540638C>A" "" "likely benign" "" "0000523322" "0" "30" "4" "79461956" "79461956" "subst" "0.0134516" "02326" "FRAS1_000402" "g.79461956T>C" "" "" "" "FRAS1(NM_025074.6):c.11717T>C (p.(Ile3906Thr)), FRAS1(NM_025074.7):c.11717T>C (p.I3906T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78540802T>C" "" "likely benign" "" "0000523323" "0" "10" "4" "79461959" "79461959" "subst" "0.00218958" "01943" "FRAS1_000280" "g.79461959G>T" "" "" "" "FRAS1(NM_025074.7):c.11720G>T (p.G3907V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78540805G>T" "" "benign" "" "0000523324" "0" "50" "4" "79462190" "79462190" "subst" "6.35189E-5" "01804" "FRAS1_000403" "g.79462190C>T" "" "" "" "FRAS1(NM_025074.6):c.11951C>T (p.(Ala3984Val)), FRAS1(NM_025074.7):c.11951C>T (p.A3984V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78541036C>T" "" "VUS" "" "0000609301" "0" "30" "4" "79204131" "79204131" "subst" "0.000387002" "01943" "FRAS1_000404" "g.79204131T>C" "" "" "" "FRAS1(NM_025074.7):c.1255+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78282977T>C" "" "likely benign" "" "0000609303" "0" "30" "4" "79385746" "79385746" "subst" "0.00305644" "01943" "FRAS1_000169" "g.79385746A>C" "" "" "" "FRAS1(NM_025074.7):c.7029+9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78464592A>C" "" "likely benign" "" "0000621421" "0" "30" "4" "79366735" "79366735" "subst" "0.000476117" "01943" "FRAS1_000151" "g.79366735G>A" "" "" "" "FRAS1(NM_025074.7):c.5725G>A (p.V1909I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78445581G>A" "" "likely benign" "" "0000621422" "0" "30" "4" "79428571" "79428571" "subst" "0.000113351" "01943" "FRAS1_000405" "g.79428571G>A" "" "" "" "FRAS1(NM_025074.7):c.9317-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78507417G>A" "" "likely benign" "" "0000651520" "1" "50" "4" "79176444" "79176444" "subst" "0.0110196" "03575" "FRAS1_000028" "g.79176444G>A" "47/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "47 heterozygous, no homozygous; {DB:CLININrs147332320}" "Germline" "" "rs147332320" "0" "" "" "g.78255290G>A" "" "VUS" "" "0000651521" "1" "30" "4" "79295322" "79295322" "subst" "0.0182903" "03575" "FRAS1_000101" "g.79295322G>A" "28/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 heterozygous, no homozygous; {DB:CLININrs17459809}" "Germline" "" "rs17459809" "0" "" "" "g.78374168G>A" "" "likely benign" "" "0000651522" "1" "30" "4" "79295378" "79295378" "subst" "0.0181995" "03575" "FRAS1_000104" "g.79295378G>A" "28/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 heterozygous, no homozygous; {DB:CLININrs114077522}" "Germline" "" "rs114077522" "0" "" "" "g.78374224G>A" "" "likely benign" "" "0000651523" "1" "50" "4" "79343055" "79343055" "subst" "0.00274783" "03575" "FRAS1_000130" "g.79343055C>T" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs1872267}" "Germline" "" "rs1872267" "0" "" "" "g.78421901C>T" "" "VUS" "" "0000651524" "1" "30" "4" "79400846" "79400846" "subst" "0.00290424" "03575" "FRAS1_000197" "g.79400846C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs114190041}" "Germline" "" "rs114190041" "0" "" "" "g.78479692C>T" "" "likely benign" "" "0000651525" "1" "50" "4" "79432453" "79432453" "subst" "0.00528751" "03575" "FRAS1_000232" "g.79432453G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs61729366}" "Germline" "" "rs61729366" "0" "" "" "g.78511299G>A" "" "VUS" "" "0000653335" "1" "90" "4" "79300952" "79300952" "dup" "0" "03575" "FRAS1_000406" "g.79300952dup" "2/2779 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs797044696}\r\nVariant Error EBUILDMISMATCH: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs797044696" "0" "" "" "g.78379803dup" "" "pathogenic" "" "0000655195" "0" "30" "4" "79186216" "79186216" "subst" "0.00135531" "02326" "FRAS1_000305" "g.79186216C>T" "" "" "" "FRAS1(NM_025074.7):c.641C>T (p.P214L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78265062C>T" "" "likely benign" "" "0000655196" "0" "30" "4" "79238668" "79238668" "subst" "0" "01943" "FRAS1_000407" "g.79238668G>A" "" "" "" "FRAS1(NM_025074.7):c.1960+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78317514G>A" "" "likely benign" "" "0000655197" "0" "30" "4" "79295319" "79295319" "subst" "0.000717284" "01943" "FRAS1_000100" "g.79295319A>C" "" "" "" "FRAS1(NM_001166133.1):c.3065A>C (p.(Lys1022Thr)), FRAS1(NM_025074.7):c.3065A>C (p.K1022T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78374165A>C" "" "likely benign" "" "0000655198" "0" "30" "4" "79372935" "79372935" "subst" "1.24061E-5" "01943" "FRAS1_000408" "g.79372935A>C" "" "" "" "FRAS1(NM_025074.7):c.6473A>C (p.E2158A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78451781A>C" "" "likely benign" "" "0000655199" "0" "30" "4" "79385647" "79385647" "subst" "0.00121224" "01943" "FRAS1_000166" "g.79385647C>T" "" "" "" "FRAS1(NM_025074.7):c.6939C>T (p.P2313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78464493C>T" "" "likely benign" "" "0000655200" "0" "30" "4" "79410159" "79410159" "subst" "4.47737E-5" "01943" "FRAS1_000409" "g.79410159C>T" "" "" "" "FRAS1(NM_025074.7):c.8883C>T (p.S2961=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78489005C>T" "" "likely benign" "" "0000655201" "0" "50" "4" "79432474" "79432474" "subst" "0.000416221" "01943" "FRAS1_000390" "g.79432474T>C" "" "" "" "FRAS1(NM_025074.6):c.9827T>C (p.(Val3276Ala)), FRAS1(NM_025074.7):c.9827T>C (p.V3276A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78511320T>C" "" "VUS" "" "0000655202" "0" "30" "4" "79461956" "79461956" "subst" "0.0134516" "01804" "FRAS1_000402" "g.79461956T>C" "" "" "" "FRAS1(NM_025074.6):c.11717T>C (p.(Ile3906Thr)), FRAS1(NM_025074.7):c.11717T>C (p.I3906T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78540802T>C" "" "likely benign" "" "0000655203" "0" "50" "4" "79462139" "79462139" "subst" "4.07325E-6" "01943" "FRAS1_000410" "g.79462139A>G" "" "" "" "FRAS1(NM_025074.7):c.11900A>G (p.N3967S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78540985A>G" "" "VUS" "" "0000677313" "0" "30" "4" "79240064" "79240064" "subst" "6.09414E-5" "01943" "FRAS1_000411" "g.79240064C>T" "" "" "" "FRAS1(NM_025074.7):c.2061C>T (p.D687=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677314" "0" "30" "4" "79308523" "79308523" "subst" "0" "01943" "FRAS1_000412" "g.79308523C>T" "" "" "" "FRAS1(NM_025074.7):c.3649-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677315" "0" "30" "4" "79360063" "79360063" "subst" "0.00175374" "01943" "FRAS1_000142" "g.79360063G>A" "" "" "" "FRAS1(NM_025074.7):c.5374G>A (p.A1792T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677316" "0" "30" "4" "79391218" "79391218" "subst" "0.000436354" "02326" "FRAS1_000413" "g.79391218C>T" "" "" "" "FRAS1(NM_025074.7):c.7344C>T (p.L2448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677317" "0" "50" "4" "79393385" "79393385" "subst" "1.22041E-5" "01943" "FRAS1_000414" "g.79393385G>A" "" "" "" "FRAS1(NM_025074.7):c.7423G>A (p.E2475K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677318" "0" "50" "4" "79394691" "79394691" "subst" "0.00147333" "01943" "FRAS1_000188" "g.79394691A>G" "" "" "" "FRAS1(NM_025074.6):c.7622A>G (p.(Asn2541Ser)), FRAS1(NM_025074.7):c.7622A>G (p.N2541S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677319" "0" "30" "4" "79394691" "79394691" "subst" "0.00147333" "02326" "FRAS1_000188" "g.79394691A>G" "" "" "" "FRAS1(NM_025074.6):c.7622A>G (p.(Asn2541Ser)), FRAS1(NM_025074.7):c.7622A>G (p.N2541S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677320" "0" "50" "4" "79403662" "79403662" "subst" "3.66035E-5" "01943" "FRAS1_000415" "g.79403662A>T" "" "" "" "FRAS1(NM_025074.7):c.8725A>T (p.I2909F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677321" "0" "30" "4" "79458283" "79458283" "subst" "0.000800345" "01804" "FRAS1_000273" "g.79458283A>G" "" "" "" "FRAS1(NM_025074.6):c.11227A>G (p.(Ile3743Val)), FRAS1(NM_025074.7):c.11227A>G (p.I3743V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689346" "0" "30" "4" "79294026" "79294041" "del" "0.00028163" "02326" "FRAS1_000416" "g.79294026_79294041del" "" "" "" "FRAS1(NM_025074.7):c.3010+14_3010+29delGGCCCTGCTCTGTGCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689347" "0" "30" "4" "79329005" "79329005" "subst" "0.000348423" "01943" "FRAS1_000417" "g.79329005G>T" "" "" "" "FRAS1(NM_025074.7):c.4308+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689348" "0" "30" "4" "79345533" "79345533" "subst" "7.98505E-5" "01943" "FRAS1_000418" "g.79345533C>T" "" "" "" "FRAS1(NM_025074.7):c.4679-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689349" "0" "50" "4" "79353570" "79353570" "subst" "1.23695E-5" "01943" "FRAS1_000419" "g.79353570T>C" "" "" "" "FRAS1(NM_025074.7):c.5029T>C (p.S1677P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689350" "0" "30" "4" "79373329" "79373329" "subst" "0.00056574" "01943" "FRAS1_000420" "g.79373329A>G" "" "" "" "FRAS1(NM_025074.7):c.6584A>G (p.E2195G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689351" "0" "50" "4" "79455715" "79455715" "subst" "0" "01943" "FRAS1_000421" "g.79455715A>G" "" "" "" "FRAS1(NM_025074.7):c.11038A>G (p.N3680D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000701838" "3" "50" "4" "79202579" "79202579" "subst" "0" "00006" "FRAS1_000422" "g.79202579C>T" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.78281425C>T" "" "VUS" "" "0000703899" "3" "70" "4" "79443907" "79443907" "subst" "2.46617E-5" "00006" "FRAS1_000423" "g.79443907G>A" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.78522753G>A" "" "likely pathogenic" "" "0000719994" "0" "30" "4" "78987180" "78987180" "subst" "0.000348801" "01943" "FRAS1_000424" "g.78987180T>G" "" "" "" "FRAS1(NM_025074.7):c.108+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719995" "0" "30" "4" "79176453" "79176453" "subst" "0.000703785" "02326" "FRAS1_000029" "g.79176453G>A" "" "" "" "FRAS1(NM_001166133.1):c.527G>A (p.(Arg176Gln)), FRAS1(NM_025074.7):c.527G>A (p.R176Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719996" "0" "50" "4" "79186228" "79186228" "subst" "4.06974E-6" "01943" "FRAS1_000425" "g.79186228C>G" "" "" "" "FRAS1(NM_025074.7):c.653C>G (p.A218G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719997" "0" "50" "4" "79188491" "79188491" "subst" "0.000959896" "02329" "FRAS1_000043" "g.79188491G>A" "" "" "" "FRAS1(NM_001166133.1):c.886G>A (p.(Glu296Lys)), FRAS1(NM_025074.7):c.886G>A (p.E296K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719998" "0" "70" "4" "79236793" "79236793" "subst" "0" "02329" "FRAS1_000426" "g.79236793G>A" "" "" "" "FRAS1(NM_025074.7):c.1724G>A (p.(Cys575Tyr), p.C575Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719999" "0" "30" "4" "79240083" "79240083" "subst" "6.50031E-5" "01943" "FRAS1_000427" "g.79240083G>A" "" "" "" "FRAS1(NM_025074.7):c.2080G>A (p.E694K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720000" "0" "50" "4" "79254554" "79254554" "subst" "4.12647E-6" "02329" "FRAS1_000079" "g.79254554G>C" "" "" "" "FRAS1(NM_025074.7):c.2266G>C (p.G756R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720001" "0" "30" "4" "79293958" "79293958" "subst" "0.000289003" "02326" "FRAS1_000097" "g.79293958G>A" "" "" "" "FRAS1(NM_025074.7):c.2956G>A (p.A986T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720002" "0" "50" "4" "79301155" "79301155" "subst" "0" "01943" "FRAS1_000428" "g.79301155C>T" "" "" "" "FRAS1(NM_025074.7):c.3563+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720003" "0" "30" "4" "79322007" "79322007" "subst" "0.000671332" "01943" "FRAS1_000429" "g.79322007C>T" "" "" "" "FRAS1(NM_025074.7):c.4095C>T (p.I1365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720004" "0" "30" "4" "79343147" "79343147" "subst" "4.13438E-5" "01943" "FRAS1_000430" "g.79343147G>A" "" "" "" "FRAS1(NM_025074.7):c.4671G>A (p.S1557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720005" "0" "30" "4" "79351561" "79351561" "subst" "0.000371192" "02326" "FRAS1_000139" "g.79351561G>A" "" "" "" "FRAS1(NM_025074.7):c.4959G>A (p.P1653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720006" "0" "90" "4" "79353653" "79353654" "del" "0" "01943" "FRAS1_000431" "g.79353653_79353654del" "" "" "" "FRAS1(NM_025074.7):c.5112_5113delCC (p.L1705Vfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720007" "0" "30" "4" "79367889" "79367889" "subst" "0.000228898" "01943" "FRAS1_000432" "g.79367889C>T" "" "" "" "FRAS1(NM_025074.7):c.5865C>T (p.N1955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720008" "0" "50" "4" "79369380" "79369380" "subst" "2.10486E-5" "01943" "FRAS1_000433" "g.79369380G>A" "" "" "" "FRAS1(NM_025074.7):c.6184G>A (p.V2062M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720009" "0" "50" "4" "79385640" "79385640" "subst" "0.000231894" "01943" "FRAS1_000434" "g.79385640C>T" "" "" "" "FRAS1(NM_025074.7):c.6932C>T (p.S2311L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720010" "0" "70" "4" "79385671" "79385672" "dup" "0" "02329" "FRAS1_000435" "g.79385671_79385672dup" "" "" "" "FRAS1(NM_025074.7):c.6963_6964dupGG (p.V2322Gfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720011" "0" "30" "4" "79391160" "79391160" "subst" "9.77294E-5" "01943" "FRAS1_000436" "g.79391160G>A" "" "" "" "FRAS1(NM_025074.7):c.7286G>A (p.R2429Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720012" "0" "90" "4" "79400782" "79400782" "del" "0" "02329" "FRAS1_000001" "g.79400782del" "" "" "" "FRAS1(NM_025074.7):c.8353delG (p.V2785Wfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720013" "0" "50" "4" "79410122" "79410122" "subst" "0.000158819" "02329" "FRAS1_000381" "g.79410122A>T" "" "" "" "FRAS1(NM_025074.7):c.8846A>T (p.Y2949F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720014" "0" "50" "4" "79430038" "79430038" "subst" "2.44493E-5" "01943" "FRAS1_000437" "g.79430038G>A" "" "" "" "FRAS1(NM_025074.7):c.9658G>A (p.G3220S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720015" "0" "50" "4" "79432500" "79432500" "subst" "0.00467161" "01943" "FRAS1_000438" "g.79432500C>T" "" "" "" "FRAS1(NM_025074.7):c.9853C>T (p.H3285Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720016" "0" "30" "4" "79447746" "79447746" "subst" "6.55468E-5" "01943" "FRAS1_000439" "g.79447746G>A" "" "" "" "FRAS1(NM_025074.7):c.10860G>A (p.Q3620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720017" "0" "30" "4" "79460455" "79460455" "subst" "0.000131366" "01943" "FRAS1_000440" "g.79460455A>G" "" "" "" "FRAS1(NM_025074.7):c.11306A>G (p.N3769S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720018" "0" "30" "4" "79462059" "79462059" "subst" "0" "01943" "FRAS1_000441" "g.79462059G>A" "" "" "" "FRAS1(NM_025074.7):c.11820G>A (p.E3940=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000786664" "11" "50" "4" "79367948" "79367948" "subst" "0" "00006" "FRAS1_000442" "g.79367948T>C" "" "{PMID:Lefebvre 2021:32732226}" "" "Ile1975Thr" "concordant phenotype, no second variant identified" "Germline" "" "" "0" "" "" "g.78446794T>C" "" "VUS" "" "0000801712" "0" "30" "4" "78979258" "78979259" "ins" "0" "02326" "FRAS1_000443" "g.78979258_78979259insCGTG" "" "" "" "FRAS1(NM_025074.7):c.76+18_76+19insGCGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801713" "0" "30" "4" "79158704" "79158704" "subst" "0.000174808" "01943" "FRAS1_000444" "g.79158704G>A" "" "" "" "FRAS1(NM_025074.7):c.149G>A (p.R50H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801714" "0" "30" "4" "79188491" "79188491" "subst" "0.000959896" "02326" "FRAS1_000043" "g.79188491G>A" "" "" "" "FRAS1(NM_001166133.1):c.886G>A (p.(Glu296Lys)), FRAS1(NM_025074.7):c.886G>A (p.E296K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801715" "0" "50" "4" "79240030" "79240030" "subst" "0.00039429" "02325" "FRAS1_000325" "g.79240030C>T" "" "" "" "FRAS1(NM_025074.7):c.2027C>T (p.P676L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801716" "0" "50" "4" "79301105" "79301105" "subst" "0" "01943" "FRAS1_000445" "g.79301105T>G" "" "" "" "FRAS1(NM_025074.7):c.3518T>G (p.V1173G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801717" "0" "30" "4" "79322007" "79322007" "subst" "0.000671332" "02326" "FRAS1_000429" "g.79322007C>T" "" "" "" "FRAS1(NM_025074.7):c.4095C>T (p.I1365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801718" "0" "30" "4" "79328977" "79328977" "subst" "0" "01943" "FRAS1_000446" "g.79328977C>T" "" "" "" "FRAS1(NM_025074.7):c.4290C>T (p.S1430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801719" "0" "30" "4" "79334148" "79334148" "subst" "0.000350429" "01943" "FRAS1_000121" "g.79334148C>T" "" "" "" "FRAS1(NM_025074.7):c.4334C>T (p.T1445I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801720" "0" "90" "4" "79353675" "79353675" "subst" "0" "01943" "FRAS1_000447" "g.79353675C>T" "" "" "" "FRAS1(NM_025074.7):c.5134C>T (p.R1712*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801721" "0" "50" "4" "79353746" "79353746" "subst" "0.000171765" "01943" "FRAS1_000448" "g.79353746C>A" "" "" "" "FRAS1(NM_025074.7):c.5205C>A (p.H1735Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801722" "0" "30" "4" "79385635" "79385635" "subst" "4.06765E-6" "02326" "FRAS1_000449" "g.79385635T>C" "" "" "" "FRAS1(NM_025074.7):c.6927T>C (p.D2309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801723" "0" "50" "4" "79387405" "79387405" "subst" "1.2195E-5" "01943" "FRAS1_000450" "g.79387405G>T" "" "" "" "FRAS1(NM_025074.7):c.7073G>T (p.G2358V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801724" "0" "50" "4" "79387428" "79387428" "subst" "2.43875E-5" "01943" "FRAS1_000451" "g.79387428G>A" "" "" "" "FRAS1(NM_025074.7):c.7096G>A (p.G2366R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801725" "0" "50" "4" "79387555" "79387555" "subst" "0.000472017" "02325" "FRAS1_000291" "g.79387555A>G" "" "" "" "FRAS1(NM_025074.6):c.7223A>G (p.(Asn2408Ser)), FRAS1(NM_025074.7):c.7223A>G (p.N2408S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801726" "0" "30" "4" "79396631" "79396631" "subst" "2.84599E-5" "01943" "FRAS1_000452" "g.79396631G>A" "" "" "" "FRAS1(NM_025074.7):c.7722G>A (p.T2574=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801727" "0" "30" "4" "79399113" "79399113" "subst" "6.53541E-5" "01943" "FRAS1_000453" "g.79399113A>G" "" "" "" "FRAS1(NM_025074.7):c.7996A>G (p.I2666V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801728" "0" "50" "4" "79400634" "79400634" "subst" "8.17468E-6" "01943" "FRAS1_000454" "g.79400634G>T" "" "" "" "FRAS1(NM_025074.7):c.8205G>T (p.G2735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801729" "0" "30" "4" "79400644" "79400644" "subst" "0.000987529" "02326" "FRAS1_000195" "g.79400644G>A" "" "" "" "FRAS1(NM_025074.7):c.8215G>A (p.A2739T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801730" "0" "30" "4" "79420942" "79420942" "subst" "0.0011381" "02326" "FRAS1_000455" "g.79420942G>A" "" "" "" "FRAS1(NM_025074.7):c.9183G>A (p.A3061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801731" "0" "50" "4" "79432474" "79432474" "subst" "0.000416221" "02326" "FRAS1_000390" "g.79432474T>C" "" "" "" "FRAS1(NM_025074.6):c.9827T>C (p.(Val3276Ala)), FRAS1(NM_025074.7):c.9827T>C (p.V3276A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801732" "0" "30" "4" "79434609" "79434609" "subst" "0.00090629" "02326" "FRAS1_000456" "g.79434609G>A" "" "" "" "FRAS1(NM_025074.7):c.10077G>A (p.P3359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801733" "0" "50" "4" "79437009" "79437009" "subst" "0.000358265" "01943" "FRAS1_000244" "g.79437009G>A" "" "" "" "FRAS1(NM_025074.7):c.10231G>A (p.D3411N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801734" "0" "30" "4" "79458300" "79458300" "subst" "0" "01943" "FRAS1_000457" "g.79458300C>G" "" "" "" "FRAS1(NM_025074.7):c.11244C>G (p.P3748=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801735" "0" "30" "4" "79460455" "79460455" "subst" "0.000131366" "02326" "FRAS1_000440" "g.79460455A>G" "" "" "" "FRAS1(NM_025074.7):c.11306A>G (p.N3769S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801736" "0" "30" "4" "79461920" "79461920" "subst" "0.000122075" "01943" "FRAS1_000458" "g.79461920C>T" "" "" "" "FRAS1(NM_025074.7):c.11681C>T (p.A3894V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801737" "0" "30" "4" "79462110" "79462110" "subst" "8.94185E-5" "01943" "FRAS1_000459" "g.79462110G>A" "" "" "" "FRAS1(NM_025074.7):c.11871G>A (p.R3957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850660" "0" "10" "4" "78979271" "78979274" "dup" "0" "02325" "FRAS1_000460" "g.78979271_78979274dup" "" "" "" "FRAS1(NM_025074.7):c.76+31_76+34dupGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850661" "0" "10" "4" "78979273" "78979274" "dup" "0" "02325" "FRAS1_000296" "g.78979273_78979274dup" "" "" "" "FRAS1(NM_025074.7):c.76+33_76+34dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850662" "0" "30" "4" "79199817" "79199817" "subst" "0.000150721" "01943" "FRAS1_000463" "g.79199817A>G" "" "" "" "FRAS1(NM_025074.7):c.990A>G (p.E330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850663" "0" "10" "4" "79207575" "79207575" "subst" "0.00277814" "02326" "FRAS1_000464" "g.79207575C>T" "" "" "" "FRAS1(NM_025074.7):c.1416C>T (p.C472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850664" "0" "10" "4" "79236838" "79236838" "subst" "0.00272128" "02326" "FRAS1_000465" "g.79236838T>C" "" "" "" "FRAS1(NM_025074.7):c.1769T>C (p.M590T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850665" "0" "50" "4" "79258916" "79258916" "subst" "0" "01943" "FRAS1_000466" "g.79258916C>A" "" "" "" "FRAS1(NM_025074.7):c.2367C>A (p.N789K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850666" "0" "30" "4" "79308651" "79308651" "subst" "0.000105666" "01943" "FRAS1_000467" "g.79308651C>A" "" "" "" "FRAS1(NM_025074.7):c.3771C>A (p.I1257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850667" "0" "30" "4" "79343072" "79343072" "subst" "0" "01943" "FRAS1_000469" "g.79343072G>A" "" "" "" "FRAS1(NM_025074.7):c.4596G>A (p.E1532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850668" "0" "10" "4" "79351479" "79351479" "subst" "0.00105237" "02326" "FRAS1_000352" "g.79351479C>T" "" "" "" "FRAS1(NM_025074.7):c.4877C>T (p.A1626V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850669" "0" "10" "4" "79351542" "79351542" "subst" "0.0020753" "02326" "FRAS1_000353" "g.79351542C>T" "" "" "" "FRAS1(NM_001166133.1):c.4940C>T (p.(Thr1647Ile)), FRAS1(NM_025074.7):c.4940C>T (p.T1647I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850670" "0" "10" "4" "79359704" "79359704" "subst" "0.00104353" "02326" "FRAS1_000471" "g.79359704C>A" "" "" "" "FRAS1(NM_025074.7):c.5218-20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850671" "0" "50" "4" "79366681" "79366681" "subst" "6.1999E-5" "01943" "FRAS1_000472" "g.79366681C>T" "" "" "" "FRAS1(NM_025074.7):c.5671C>T (p.R1891C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850672" "0" "30" "4" "79396682" "79396682" "subst" "2.44168E-5" "01943" "FRAS1_000475" "g.79396682C>T" "" "" "" "FRAS1(NM_025074.7):c.7773C>T (p.T2591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850673" "0" "30" "4" "79428642" "79428642" "subst" "8.98612E-5" "01943" "FRAS1_000480" "g.79428642C>T" "" "" "" "FRAS1(NM_025074.7):c.9384C>T (p.F3128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850674" "0" "10" "4" "79430139" "79430139" "subst" "0.00280081" "02326" "FRAS1_000481" "g.79430139A>G" "" "" "" "FRAS1(NM_025074.7):c.9759A>G (p.P3253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850675" "0" "10" "4" "79437008" "79437008" "subst" "0.00280105" "02326" "FRAS1_000482" "g.79437008C>T" "" "" "" "FRAS1(NM_025074.7):c.10230C>T (p.Y3410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850676" "0" "50" "4" "79461695" "79461695" "subst" "0" "02327" "FRAS1_000484" "g.79461695G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850677" "0" "10" "4" "79461959" "79461959" "subst" "0.00218958" "02326" "FRAS1_000280" "g.79461959G>T" "" "" "" "FRAS1(NM_025074.7):c.11720G>T (p.G3907V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859573" "0" "50" "4" "79176417" "79176417" "subst" "1.93471E-5" "01943" "FRAS1_000461" "g.79176417A>G" "" "" "" "FRAS1(NM_025074.7):c.491A>G (p.H164R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859574" "0" "30" "4" "79176546" "79176546" "subst" "2.53159E-5" "02326" "FRAS1_000462" "g.79176546C>T" "" "" "" "FRAS1(NM_025074.7):c.603+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859575" "0" "10" "4" "79321868" "79321868" "subst" "0.00391483" "02326" "FRAS1_000468" "g.79321868G>A" "" "" "" "FRAS1(NM_025074.7):c.3976-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859576" "0" "50" "4" "79343106" "79343106" "subst" "0" "01943" "FRAS1_000470" "g.79343106C>A" "" "" "" "FRAS1(NM_025074.7):c.4630C>A (p.P1544T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859577" "0" "50" "4" "79387417" "79387417" "subst" "0" "01943" "FRAS1_000473" "g.79387417G>A" "" "" "" "FRAS1(NM_025074.7):c.7085G>A (p.R2362Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859578" "0" "30" "4" "79391154" "79391154" "subst" "1.22171E-5" "01943" "FRAS1_000474" "g.79391154C>A" "" "" "" "FRAS1(NM_025074.7):c.7280C>A (p.P2427Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859579" "0" "30" "4" "79400826" "79400826" "subst" "4.16722E-5" "01943" "FRAS1_000476" "g.79400826G>A" "" "" "" "FRAS1(NM_025074.7):c.8397G>A (p.S2799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859580" "0" "30" "4" "79400847" "79400847" "subst" "3.47596E-5" "01943" "FRAS1_000477" "g.79400847G>A" "" "" "" "FRAS1(NM_025074.7):c.8418G>A (p.T2806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859581" "0" "50" "4" "79403123" "79403123" "subst" "4.09313E-6" "01943" "FRAS1_000478" "g.79403123G>A" "" "" "" "FRAS1(NM_025074.7):c.8604+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859582" "0" "50" "4" "79418016" "79418016" "subst" "1.62639E-5" "01943" "FRAS1_000479" "g.79418016T>C" "" "" "" "FRAS1(NM_025074.7):c.9016T>C (p.F3006L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859583" "0" "30" "4" "79447780" "79447780" "subst" "3.68643E-5" "01943" "FRAS1_000483" "g.79447780C>T" "" "" "" "FRAS1(NM_025074.7):c.10894C>T (p.P3632S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859584" "0" "30" "4" "79461922" "79461922" "subst" "0.000142407" "01943" "FRAS1_000485" "g.79461922G>A" "" "" "" "FRAS1(NM_025074.7):c.11683G>A (p.V3895I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859585" "0" "30" "4" "79462086" "79462086" "subst" "4.06246E-6" "01943" "FRAS1_000486" "g.79462086T>C" "" "" "" "FRAS1(NM_025074.7):c.11847T>C (p.N3949=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000877233" "0" "50" "4" "79367939" "79367939" "subst" "8.14876E-6" "00006" "FRAS1_000487" "g.79367939C>T" "" "{PMID:Monroe 2016:26845106}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000886374" "0" "30" "4" "79166407" "79166407" "subst" "8.41347E-5" "02326" "FRAS1_000488" "g.79166407T>C" "" "" "" "FRAS1(NM_025074.7):c.237T>C (p.A79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886375" "0" "30" "4" "79205589" "79205589" "subst" "0.00364771" "02326" "FRAS1_000313" "g.79205589C>A" "" "" "" "FRAS1(NM_001166133.1):c.1286C>A (p.(Ser429Tyr)), FRAS1(NM_025074.7):c.1286C>A (p.S429Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886376" "0" "30" "4" "79207712" "79207712" "subst" "0.0036796" "02326" "FRAS1_000489" "g.79207712A>G" "" "" "" "FRAS1(NM_025074.7):c.1534+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886377" "0" "30" "4" "79229275" "79229275" "subst" "4.0662E-6" "02326" "FRAS1_000061" "g.79229275C>T" "" "" "" "FRAS1(NM_025074.7):c.1590C>T (p.A530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886378" "0" "30" "4" "79236779" "79236779" "subst" "0.00307158" "02326" "FRAS1_000319" "g.79236779C>T" "" "" "" "FRAS1(NM_025074.7):c.1710C>T (p.P570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886379" "0" "30" "4" "79236852" "79236852" "subst" "0.000641817" "02326" "FRAS1_000065" "g.79236852G>A" "" "" "" "FRAS1(NM_001166133.1):c.1783G>A (p.(Gly595Ser)), FRAS1(NM_025074.7):c.1783G>A (p.G595S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886380" "0" "30" "4" "79258815" "79258815" "subst" "2.04967E-5" "02326" "FRAS1_000490" "g.79258815G>A" "" "" "" "FRAS1(NM_025074.7):c.2279-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886381" "0" "30" "4" "79285133" "79285133" "subst" "0.000255451" "02326" "FRAS1_000491" "g.79285133G>A" "" "" "" "FRAS1(NM_025074.7):c.2647G>A (p.V883M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886382" "0" "30" "4" "79300996" "79300996" "subst" "0.00185468" "02326" "FRAS1_000335" "g.79300996G>A" "" "" "" "FRAS1(NM_025074.7):c.3409G>A (p.D1137N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886383" "0" "30" "4" "79334178" "79334178" "subst" "0.000321429" "02326" "FRAS1_000346" "g.79334178C>T" "" "" "" "FRAS1(NM_025074.7):c.4364C>T (p.A1455V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886384" "0" "10" "4" "79353749" "79353749" "subst" "0.00316293" "02326" "FRAS1_000492" "g.79353749T>C" "" "" "" "FRAS1(NM_025074.7):c.5208T>C (p.L1736=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886385" "0" "30" "4" "79360063" "79360063" "subst" "0.00175374" "02326" "FRAS1_000142" "g.79360063G>A" "" "" "" "FRAS1(NM_025074.7):c.5374G>A (p.A1792T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886386" "0" "30" "4" "79367889" "79367889" "subst" "0.000228898" "02326" "FRAS1_000432" "g.79367889C>T" "" "" "" "FRAS1(NM_025074.7):c.5865C>T (p.N1955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886387" "0" "50" "4" "79367963" "79367965" "del" "0" "02329" "FRAS1_000493" "g.79367963_79367965del" "" "" "" "FRAS1(NM_025074.7):c.5939_5941delCTT (p.S1980del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886388" "0" "30" "4" "79373367" "79373367" "subst" "9.35324E-5" "02326" "FRAS1_000494" "g.79373367C>T" "" "" "" "FRAS1(NM_025074.7):c.6622C>T (p.L2208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886389" "0" "30" "4" "79373520" "79373520" "subst" "0.00113064" "02326" "FRAS1_000495" "g.79373520A>G" "" "" "" "FRAS1(NM_025074.7):c.6763+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886390" "0" "30" "4" "79387365" "79387365" "subst" "0.000537718" "02326" "FRAS1_000496" "g.79387365G>A" "" "" "" "FRAS1(NM_025074.7):c.7033G>A (p.E2345K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886391" "0" "30" "4" "79394721" "79394721" "subst" "0.00492082" "02326" "FRAS1_000497" "g.79394721A>G" "" "" "" "FRAS1(NM_025074.7):c.7652A>G (p.Q2551R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886392" "0" "30" "4" "79410216" "79410216" "subst" "0.000904963" "02326" "FRAS1_000383" "g.79410216A>G" "" "" "" "FRAS1(NM_025074.7):c.8940A>G (p.T2980=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886393" "0" "30" "4" "79417948" "79417948" "subst" "0.00326952" "02326" "FRAS1_000498" "g.79417948A>G" "" "" "" "FRAS1(NM_025074.7):c.8959-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886394" "0" "30" "4" "79432649" "79432649" "subst" "0.00213298" "02326" "FRAS1_000499" "g.79432649G>A" "" "" "" "FRAS1(NM_025074.7):c.10002G>A (p.E3334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886395" "0" "30" "4" "79434692" "79434692" "subst" "0.000864086" "02326" "FRAS1_000500" "g.79434692T>C" "" "" "" "FRAS1(NM_025074.7):c.10160T>C (p.L3387P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886396" "0" "30" "4" "79440650" "79440650" "subst" "9.35279E-5" "02326" "FRAS1_000501" "g.79440650G>A" "" "" "" "FRAS1(NM_025074.7):c.10540+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886397" "0" "90" "4" "79442733" "79442733" "subst" "4.10347E-6" "02329" "FRAS1_000502" "g.79442733C>T" "" "" "" "FRAS1(NM_025074.7):c.10597C>T (p.R3533*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886398" "0" "50" "4" "79458320" "79458320" "subst" "0.000922472" "02326" "FRAS1_000396" "g.79458320C>T" "" "" "" "FRAS1(NM_025074.7):c.11264C>T (p.P3755L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886399" "0" "30" "4" "79462110" "79462110" "subst" "8.94185E-5" "02326" "FRAS1_000459" "g.79462110G>A" "" "" "" "FRAS1(NM_025074.7):c.11871G>A (p.R3957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886400" "0" "30" "4" "79462190" "79462190" "subst" "6.35189E-5" "02326" "FRAS1_000403" "g.79462190C>T" "" "" "" "FRAS1(NM_025074.6):c.11951C>T (p.(Ala3984Val)), FRAS1(NM_025074.7):c.11951C>T (p.A3984V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886401" "0" "30" "4" "79462278" "79462278" "subst" "0.000770988" "02326" "FRAS1_000503" "g.79462278A>G" "" "" "" "FRAS1(NM_025074.7):c.12039A>G (p.*4013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912139" "0" "30" "4" "79229320" "79229320" "subst" "0.000528288" "02326" "FRAS1_000318" "g.79229320C>T" "" "" "" "FRAS1(NM_025074.7):c.1635C>T (p.S545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912140" "0" "30" "4" "79238511" "79238511" "subst" "0.000808628" "02326" "FRAS1_000504" "g.79238511C>G" "" "" "" "FRAS1(NM_025074.7):c.1820-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912141" "0" "30" "4" "79334148" "79334148" "subst" "0.000350429" "02326" "FRAS1_000121" "g.79334148C>T" "" "" "" "FRAS1(NM_025074.7):c.4334C>T (p.T1445I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912142" "0" "30" "4" "79428571" "79428571" "subst" "0.000113351" "02326" "FRAS1_000405" "g.79428571G>A" "" "" "" "FRAS1(NM_025074.7):c.9317-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912143" "0" "30" "4" "79428642" "79428642" "subst" "8.98612E-5" "02326" "FRAS1_000480" "g.79428642C>T" "" "" "" "FRAS1(NM_025074.7):c.9384C>T (p.F3128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912144" "0" "30" "4" "79442734" "79442734" "subst" "0.00138757" "02326" "FRAS1_000505" "g.79442734G>A" "" "" "" "FRAS1(NM_025074.7):c.10598G>A (p.R3533Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912145" "0" "10" "4" "79458283" "79458283" "subst" "0.000800345" "02326" "FRAS1_000273" "g.79458283A>G" "" "" "" "FRAS1(NM_025074.6):c.11227A>G (p.(Ile3743Val)), FRAS1(NM_025074.7):c.11227A>G (p.I3743V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912146" "0" "30" "4" "79461794" "79461794" "subst" "1.25975E-5" "02326" "FRAS1_000506" "g.79461794G>A" "" "" "" "FRAS1(NM_025074.7):c.11555G>A (p.R3852Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912147" "0" "30" "4" "79461934" "79461934" "subst" "0.000792567" "02326" "FRAS1_000279" "g.79461934C>T" "" "" "" "FRAS1(NM_025074.7):c.11695C>T (p.L3899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924156" "0" "30" "4" "79188411" "79188411" "subst" "0.000822817" "02326" "FRAS1_000507" "g.79188411G>A" "" "" "" "FRAS1(NM_025074.7):c.806G>A (p.R269Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924157" "0" "30" "4" "79291130" "79291130" "subst" "0.00068852" "02326" "FRAS1_000095" "g.79291130C>T" "" "" "" "FRAS1(NM_025074.7):c.2861C>T (p.T954M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924158" "0" "30" "4" "79294021" "79294021" "subst" "0.000448844" "02326" "FRAS1_000508" "g.79294021G>A" "" "" "" "FRAS1(NM_025074.7):c.3010+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924159" "0" "30" "4" "79329005" "79329005" "subst" "0.000348423" "02326" "FRAS1_000417" "g.79329005G>T" "" "" "" "FRAS1(NM_025074.7):c.4308+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924160" "0" "30" "4" "79353746" "79353746" "subst" "3.52339E-5" "02326" "FRAS1_000509" "g.79353746C>T" "" "" "" "FRAS1(NM_025074.7):c.5205C>T (p.H1735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928937" "0" "90" "4" "79321971" "79321971" "dup" "0" "02325" "FRAS1_000510" "g.79321971dup" "" "" "" "FRAS1(NM_025074.7):c.4059dupA (p.Q1354Tfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928938" "0" "30" "4" "79351590" "79351590" "subst" "0.00332981" "02326" "FRAS1_000511" "g.79351590A>T" "" "" "" "FRAS1(NM_025074.7):c.4969+19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928939" "0" "30" "4" "79371331" "79371331" "subst" "0.000788419" "02326" "FRAS1_000155" "g.79371331C>T" "" "" "" "FRAS1(NM_025074.7):c.6301C>T (p.H2101Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928940" "0" "90" "4" "79385304" "79385304" "subst" "8.379E-6" "02325" "FRAS1_000512" "g.79385304G>A" "" "" "" "FRAS1(NM_025074.7):c.6888+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928941" "0" "50" "4" "79385635" "79385635" "subst" "2.84736E-5" "02325" "FRAS1_000165" "g.79385635T>A" "" "" "" "FRAS1(NM_025074.6):c.6927T>A (p.(Asp2309Glu)), FRAS1(NM_025074.7):c.6927T>A (p.D2309E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928942" "0" "50" "4" "79385723" "79385723" "subst" "2.84949E-5" "02325" "FRAS1_000168" "g.79385723G>C" "" "" "" "FRAS1(NM_025074.6):c.7015G>C (p.(Asp2339His)), FRAS1(NM_025074.7):c.7015G>C (p.D2339H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948368" "0" "90" "4" "79291086" "79291086" "subst" "0" "02326" "FRAS1_000513" "g.79291086C>G" "" "" "" "FRAS1(NM_025074.7):c.2817C>G (p.Y939*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948369" "0" "30" "4" "79373329" "79373329" "subst" "0.00056574" "02326" "FRAS1_000420" "g.79373329A>G" "" "" "" "FRAS1(NM_025074.7):c.6584A>G (p.E2195G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948370" "0" "30" "4" "79429933" "79429933" "subst" "0.00048216" "02326" "FRAS1_000228" "g.79429933G>A" "" "" "" "FRAS1(NM_025074.7):c.9553G>A (p.G3185R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948371" "0" "30" "4" "79458183" "79458183" "subst" "0" "02326" "FRAS1_000514" "g.79458183A>G" "" "" "" "FRAS1(NM_025074.7):c.11127A>G (p.P3709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963237" "0" "30" "4" "79239998" "79239998" "subst" "7.7695E-5" "02326" "FRAS1_000515" "g.79239998C>T" "" "" "" "FRAS1(NM_025074.7):c.1995C>T (p.P665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963240" "0" "30" "4" "79308831" "79308831" "subst" "0.00278233" "02326" "FRAS1_000516" "g.79308831G>A" "" "" "" "FRAS1(NM_025074.7):c.3951G>A (p.L1317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963244" "0" "30" "4" "79360163" "79360163" "subst" "0.00164731" "02326" "FRAS1_000356" "g.79360163T>G" "" "" "" "FRAS1(NM_001166133.1):c.5474T>G (p.(Met1825Arg)), FRAS1(NM_025074.7):c.5474T>G (p.M1825R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976367" "0" "50" "4" "79173547" "79173547" "subst" "1.22123E-5" "01804" "FRAS1_000517" "g.79173547A>G" "" "" "" "FRAS1(NM_025074.7):c.311A>G (p.(His104Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976368" "0" "50" "4" "79204101" "79204106" "dup" "0" "01804" "FRAS1_000518" "g.79204101_79204106dup" "" "" "" "FRAS1(NM_025074.7):c.1235_1240dup (p.(Cys413_Pro414insArgCys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976369" "0" "50" "4" "79240135" "79240135" "subst" "0.000199231" "02325" "FRAS1_000073" "g.79240135G>A" "" "" "" "FRAS1(NM_025074.7):c.2132G>A (p.C711Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976370" "0" "50" "4" "79284826" "79284829" "del" "0" "01804" "FRAS1_000519" "g.79284826_79284829del" "" "" "" "FRAS1(NM_025074.7):c.2575+7_2575+10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976371" "0" "50" "4" "79293937" "79293937" "subst" "8.13901E-6" "01804" "FRAS1_000333" "g.79293937G>A" "" "" "" "FRAS1(NM_025074.7):c.2935G>A (p.(Gly979Ser), p.G979S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976372" "0" "50" "4" "79294008" "79294019" "del" "0" "01804" "FRAS1_000520" "g.79294008_79294019del" "" "" "" "FRAS1(NM_025074.7):c.3006_3010+7del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976373" "0" "50" "4" "79295312" "79295312" "subst" "0.000790913" "01804" "FRAS1_000099" "g.79295312C>T" "" "" "" "FRAS1(NM_025074.7):c.3058C>T (p.R1020C, p.(Arg1020Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976374" "0" "50" "4" "79295334" "79295334" "subst" "0" "01804" "FRAS1_000521" "g.79295334T>C" "" "" "" "FRAS1(NM_025074.7):c.3080T>C (p.(Leu1027Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976375" "0" "90" "4" "79328947" "79328947" "subst" "0" "02326" "FRAS1_000522" "g.79328947G>A" "" "" "" "FRAS1(NM_025074.7):c.4260G>A (p.W1420*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976376" "0" "50" "4" "79340218" "79340218" "subst" "0" "01804" "FRAS1_000523" "g.79340218G>A" "" "" "" "FRAS1(NM_025074.7):c.4540+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976377" "0" "50" "4" "79373004" "79373004" "subst" "4.08387E-6" "02325" "FRAS1_000524" "g.79373004G>A" "" "" "" "FRAS1(NM_025074.7):c.6542G>A (p.G2181D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976378" "0" "50" "4" "79385733" "79385733" "subst" "0.0001059" "01804" "FRAS1_000525" "g.79385733C>T" "" "" "" "FRAS1(NM_025074.7):c.7025C>T (p.(Thr2342Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976379" "0" "50" "4" "79387359" "79387359" "subst" "4.07967E-6" "01804" "FRAS1_000370" "g.79387359C>G" "" "" "" "FRAS1(NM_025074.7):c.7030-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976380" "0" "50" "4" "79400869" "79400869" "subst" "0.000218566" "01804" "FRAS1_000526" "g.79400869G>A" "" "" "" "FRAS1(NM_025074.7):c.8440G>A (p.(Ala2814Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976381" "0" "50" "4" "79418104" "79418104" "subst" "2.03875E-5" "01804" "FRAS1_000527" "g.79418104A>G" "" "" "" "FRAS1(NM_025074.7):c.9104A>G (p.(Asn3035Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976382" "0" "50" "4" "79432606" "79432606" "subst" "3.25314E-5" "01804" "FRAS1_000528" "g.79432606C>T" "" "" "" "FRAS1(NM_025074.7):c.9959C>T (p.(Ser3320Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976383" "0" "30" "4" "79461677" "79461677" "subst" "0" "01804" "FRAS1_000529" "g.79461677C>T" "" "" "" "FRAS1(NM_025074.7):c.11446-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976384" "0" "30" "4" "79462054" "79462054" "subst" "0.000272167" "01804" "FRAS1_000530" "g.79462054G>A" "" "" "" "FRAS1(NM_025074.7):c.11815G>A (p.(Ala3939Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994441" "0" "90" "4" "79173606" "79173606" "subst" "4.87833E-5" "01804" "FRAS1_000025" "g.79173606C>T" "" "" "" "FRAS1(NM_025074.6):c.370C>T (p.(Arg124*)), FRAS1(NM_025074.7):c.370C>T (p.R124*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000994442" "0" "30" "4" "79296932" "79296932" "subst" "1.66967E-5" "01804" "FRAS1_000531" "g.79296932G>T" "" "" "" "FRAS1(NM_025074.6):c.3191G>T (p.(Arg1064Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994443" "0" "50" "4" "79343151" "79343151" "subst" "0" "01804" "FRAS1_000532" "g.79343151G>A" "" "" "" "FRAS1(NM_025074.6):c.4675G>A (p.(Ala1559Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994444" "0" "30" "4" "79351575" "79351578" "dup" "0" "02326" "FRAS1_000533" "g.79351575_79351578dup" "" "" "" "FRAS1(NM_025074.7):c.4969+2_4969+5dupTAGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994445" "0" "50" "4" "79396653" "79396653" "subst" "1.62652E-5" "01804" "FRAS1_000534" "g.79396653A>C" "" "" "" "FRAS1(NM_025074.6):c.7744A>C (p.(Asn2582His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994446" "0" "90" "4" "79403635" "79403635" "subst" "0" "01804" "FRAS1_000535" "g.79403635G>T" "" "" "" "FRAS1(NM_025074.6):c.8698G>T (p.(Glu2900*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000994447" "0" "90" "4" "79443835" "79443842" "del" "0" "02326" "FRAS1_000263" "g.79443835_79443842del" "" "" "" "FRAS1(NM_025074.7):c.10681_10688delGAAGTGAA (p.E3561Ifs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013986" "0" "30" "4" "78979273" "78979274" "del" "0" "02326" "FRAS1_000536" "g.78979273_78979274del" "" "" "" "FRAS1(NM_025074.7):c.76+34_76+35delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013987" "0" "30" "4" "79403000" "79403000" "subst" "0.000597814" "02326" "FRAS1_000537" "g.79403000C>A" "" "" "" "FRAS1(NM_025074.7):c.8486C>A (p.S2829Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024944" "0" "30" "4" "79238620" "79238620" "subst" "0.000833333" "02326" "FRAS1_000070" "g.79238620C>T" "" "" "" "FRAS1(NM_001166133.1):c.1918C>T (p.(Arg640Cys)), FRAS1(NM_025074.7):c.1918C>T (p.R640C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024945" "0" "50" "4" "79343124" "79343124" "subst" "0.00231682" "02327" "FRAS1_000349" "g.79343124C>T" "" "" "" "FRAS1(NM_001166133.1):c.4648C>T (p.(Leu1550Phe)), FRAS1(NM_025074.7):c.4648C>T (p.L1550F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024946" "0" "50" "4" "79387371" "79387371" "subst" "0.00140818" "02327" "FRAS1_000174" "g.79387371G>T" "" "" "" "FRAS1(NM_025074.6):c.7039G>T (p.(Val2347Phe)), FRAS1(NM_025074.7):c.7039G>T (p.V2347F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027560" "3" "90" "4" "79173606" "79173606" "subst" "4.87833E-5" "00006" "FRAS1_000025" "g.79173606C>T" "" "{PMID:Boissel 2017:29261186}" "" "" "" "Germline" "" "" "0" "" "" "g.78252452C>T" "" "pathogenic (recessive)" "" "0001034678" "0" "30" "4" "78987180" "78987180" "subst" "0.000348801" "01804" "FRAS1_000424" "g.78987180T>G" "" "" "" "FRAS1(NM_025074.7):c.108+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034679" "0" "30" "4" "79158775" "79158775" "subst" "2.54974E-5" "01804" "FRAS1_000538" "g.79158775C>T" "" "" "" "FRAS1(NM_025074.7):c.216+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034680" "0" "50" "4" "79188480" "79188480" "subst" "8.13531E-5" "01804" "FRAS1_000539" "g.79188480G>A" "" "" "" "FRAS1(NM_025074.7):c.875G>A (p.(Arg292Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034681" "0" "70" "4" "79236793" "79236793" "subst" "0" "01804" "FRAS1_000426" "g.79236793G>A" "" "" "" "FRAS1(NM_025074.7):c.1724G>A (p.(Cys575Tyr), p.C575Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034682" "0" "50" "4" "79293893" "79293893" "subst" "0" "01804" "FRAS1_000540" "g.79293893C>T" "" "" "" "FRAS1(NM_025074.7):c.2891C>T (p.(Ala964Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034683" "0" "50" "4" "79343101" "79343101" "subst" "0.00015056" "02325" "FRAS1_000541" "g.79343101G>A" "" "" "" "FRAS1(NM_025074.7):c.4625G>A (p.R1542H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034684" "0" "50" "4" "79387387" "79387387" "subst" "0" "01804" "FRAS1_000542" "g.79387387T>C" "" "" "" "FRAS1(NM_025074.7):c.7055T>C (p.(Val2352Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051756" "0" "50" "4" "79188088" "79188088" "subst" "0" "01804" "FRAS1_000543" "g.79188088A>T" "" "" "" "FRAS1(NM_025074.7):c.788A>T (p.(Lys263Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051757" "0" "50" "4" "79240140" "79240140" "subst" "0.000101671" "01804" "FRAS1_000544" "g.79240140G>C" "" "" "" "FRAS1(NM_025074.7):c.2137G>C (p.(Ala713Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051758" "0" "50" "4" "79258894" "79258894" "subst" "0.000154386" "01804" "FRAS1_000330" "g.79258894A>T" "" "" "" "FRAS1(NM_025074.7):c.2345A>T (p.H782L, p.(His782Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051759" "0" "50" "4" "79343159" "79343159" "subst" "0.000100215" "01804" "FRAS1_000545" "g.79343159T>C" "" "" "" "FRAS1(NM_025074.7):c.4678+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051760" "0" "50" "4" "79402982" "79402982" "subst" "2.03432E-5" "01804" "FRAS1_000546" "g.79402982G>A" "" "" "" "FRAS1(NM_025074.7):c.8468G>A (p.(Arg2823His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058710" "0" "90" "4" "79284814" "79284814" "subst" "0" "00006" "FRAS1_000547" "g.79284814G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.78363660G>T" "" "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 FRAS1 ## Count = 646 "{{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}}" "0000001008" "00000038" "50" "8353" "0" "8353" "0" "c.8353del" "r.(?)" "p.(Val2785Trpfs*33)" "" "0000154084" "00000038" "90" "5530" "-2" "5530" "-2" "c.5530-2A>C" "r.spl?" "p.?" "40i" "0000154087" "00000038" "70" "6010" "0" "6010" "0" "c.6010G>A" "r.(?)" "p.(Gly2004Ser)" "43" "0000248190" "00000038" "10" "7254" "0" "7254" "0" "c.7254A>G" "r.(?)" "p.(Lys2418=)" "" "0000248191" "00000038" "10" "9808" "0" "9808" "0" "c.9808A>C" "r.(?)" "p.(Arg3270=)" "" "0000248210" "00000038" "10" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Asp32Gly)" "" "0000248211" "00000038" "10" "2060" "0" "2060" "0" "c.2060A>G" "r.(?)" "p.(Asp687Gly)" "" "0000248218" "00000038" "10" "7132" "0" "7132" "0" "c.7132A>G" "r.(?)" "p.(Lys2378Glu)" "" "0000250893" "00000038" "10" "7254" "0" "7254" "0" "c.7254A>G" "r.(?)" "p.(Lys2418=)" "" "0000250894" "00000038" "10" "9808" "0" "9808" "0" "c.9808A>C" "r.(?)" "p.(Arg3270=)" "" "0000250913" "00000038" "10" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Asp32Gly)" "" "0000250914" "00000038" "10" "2060" "0" "2060" "0" "c.2060A>G" "r.(?)" "p.(Asp687Gly)" "" "0000250921" "00000038" "10" "7132" "0" "7132" "0" "c.7132A>G" "r.(?)" "p.(Lys2378Glu)" "" "0000251065" "00000038" "10" "308" "0" "308" "0" "c.308A>T" "r.(?)" "p.(Glu103Val)" "" "0000251067" "00000038" "10" "10683" "0" "10683" "0" "c.10683A>T" "r.(?)" "p.(Glu3561Asp)" "" "0000251166" "00000038" "10" "3119" "0" "3119" "0" "c.3119A>C" "r.(?)" "p.(Tyr1040Ser)" "" "0000251313" "00000038" "10" "108" "114" "108" "114" "c.108+114A>C" "r.(=)" "p.(=)" "" "0000251314" "00000038" "10" "108" "158" "108" "158" "c.108+158A>G" "r.(=)" "p.(=)" "" "0000251315" "00000038" "10" "687" "122" "687" "122" "c.687+122A>G" "r.(=)" "p.(=)" "" "0000251316" "00000038" "10" "687" "127" "687" "127" "c.687+127A>G" "r.(=)" "p.(=)" "" "0000251317" "00000038" "10" "1072" "-66" "1072" "-66" "c.1072-66A>G" "r.(=)" "p.(=)" "" "0000251318" "00000038" "10" "1108" "-204" "1108" "-204" "c.1108-204del" "r.(=)" "p.(=)" "" "0000251319" "00000038" "10" "1399" "45" "1399" "45" "c.1399+45A>G" "r.(=)" "p.(=)" "" "0000251320" "00000038" "10" "2137" "146" "2137" "146" "c.2137+146A>C" "r.(=)" "p.(=)" "" "0000251321" "00000038" "10" "3011" "-109" "3011" "-109" "c.3011-109A>G" "r.(=)" "p.(=)" "" "0000251322" "00000038" "10" "3292" "84" "3292" "84" "c.3292+84A>T" "r.(=)" "p.(=)" "" "0000251323" "00000038" "10" "3648" "204" "3648" "204" "c.3648+204A>G" "r.(=)" "p.(=)" "" "0000251324" "00000038" "10" "4711" "76" "4711" "76" "c.4711+76A>G" "r.(=)" "p.(=)" "" "0000251325" "00000038" "10" "5529" "98" "5529" "98" "c.5529+98A>T" "r.(=)" "p.(=)" "" "0000251326" "00000038" "10" "5666" "-1154" "5666" "-1154" "c.5666-1154A>G" "r.(=)" "p.(=)" "" "0000251327" "00000038" "10" "6464" "-70" "6464" "-70" "c.6464-70A>C" "r.(=)" "p.(=)" "" "0000251328" "00000038" "10" "7029" "9" "7029" "9" "c.7029+9A>C" "r.(=)" "p.(=)" "" "0000251329" "00000038" "10" "8099" "-151" "8099" "-151" "c.8099-151A>C" "r.(=)" "p.(=)" "" "0000251330" "00000038" "10" "8604" "28" "8604" "28" "c.8604+28A>T" "r.(=)" "p.(=)" "" "0000251331" "00000038" "10" "9116" "-259" "9116" "-259" "c.9116-259A>G" "r.(=)" "p.(=)" "" "0000251332" "00000038" "10" "9317" "-86" "9317" "-86" "c.9317-86A>G" "r.(=)" "p.(=)" "" "0000251333" "00000038" "10" "9781" "-172" "9781" "-172" "c.9781-172A>G" "r.(=)" "p.(=)" "" "0000251334" "00000038" "10" "9781" "-142" "9781" "-142" "c.9781-142A>C" "r.(=)" "p.(=)" "" "0000251335" "00000038" "10" "10175" "-65" "10175" "-65" "c.10175-65A>G" "r.(=)" "p.(=)" "" "0000251336" "00000038" "10" "10540" "112" "10540" "112" "c.10540+112A>T" "r.(=)" "p.(=)" "" "0000251888" "00000038" "30" "3065" "0" "3065" "0" "c.3065A>C" "r.(?)" "p.(Lys1022Thr)" "" "0000252091" "00000038" "30" "1071" "40" "1071" "40" "c.1071+40A>T" "r.(=)" "p.(=)" "" "0000252092" "00000038" "30" "10390" "-18" "10390" "-18" "c.10390-18A>T" "r.(=)" "p.(=)" "" "0000252792" "00000038" "50" "9524" "0" "9524" "0" "c.9524A>C" "r.(?)" "p.(Tyr3175Ser)" "" "0000254547" "00000038" "30" "11227" "0" "11227" "0" "c.11227A>G" "r.(?)" "p.(Ile3743Val)" "" "0000256372" "00000038" "50" "7223" "0" "7223" "0" "c.7223A>G" "r.(?)" "p.(Asn2408Ser)" "" "0000280872" "00000038" "50" "10231" "0" "10231" "0" "c.10231G>A" "r.(?)" "p.(Asp3411Asn)" "" "0000280873" "00000038" "10" "10696" "0" "10696" "0" "c.10696G>A" "r.(?)" "p.(Val3566Ile)" "" "0000280874" "00000038" "10" "108" "2546" "108" "2546" "c.108+2546T>C" "r.(=)" "p.(=)" "" "0000280875" "00000038" "10" "11056" "0" "11056" "0" "c.11056C>T" "r.(?)" "p.(Leu3686=)" "" "0000280876" "00000038" "10" "1396" "0" "1396" "0" "c.1396T>A" "r.(?)" "p.(Leu466Ile)" "" "0000280877" "00000038" "10" "1947" "0" "1947" "0" "c.1947T>C" "r.(?)" "p.(His649=)" "" "0000280878" "00000038" "10" "2450" "0" "2450" "0" "c.2450C>T" "r.(?)" "p.(Ala817Val)" "" "0000280879" "00000038" "30" "3058" "0" "3058" "0" "c.3058C>T" "r.(?)" "p.(Arg1020Cys)" "" "0000280880" "00000038" "10" "3068" "0" "3068" "0" "c.3068G>A" "r.(?)" "p.(Gly1023Glu)" "" "0000280881" "00000038" "10" "3124" "0" "3124" "0" "c.3124G>A" "r.(?)" "p.(Ala1042Thr)" "" "0000280883" "00000038" "10" "3312" "0" "3312" "0" "c.3312T>C" "r.(?)" "p.(Ser1104=)" "" "0000280884" "00000038" "10" "3406" "0" "3406" "0" "c.3406G>A" "r.(?)" "p.(Glu1136Lys)" "" "0000280885" "00000038" "30" "4334" "0" "4334" "0" "c.4334C>T" "r.(?)" "p.(Thr1445Ile)" "" "0000280886" "00000038" "10" "5366" "13" "5366" "13" "c.5366+13T>G" "r.(=)" "p.(=)" "" "0000280887" "00000038" "30" "5374" "0" "5374" "0" "c.5374G>A" "r.(?)" "p.(Ala1792Thr)" "" "0000280888" "00000038" "10" "604" "-132" "604" "-132" "c.604-132G>A" "r.(=)" "p.(=)" "" "0000280889" "00000038" "10" "6468" "0" "6468" "0" "c.6468C>T" "r.(?)" "p.(His2156=)" "" "0000280890" "00000038" "10" "7011" "0" "7011" "0" "c.7011G>A" "r.(?)" "p.(Ala2337=)" "" "0000280891" "00000038" "10" "7371" "11" "7371" "11" "c.7371+11T>C" "r.(=)" "p.(=)" "" "0000280892" "00000038" "10" "8439" "0" "8439" "0" "c.8439C>T" "r.(?)" "p.(Asp2813=)" "" "0000280893" "00000038" "10" "9116" "-11" "9116" "-11" "c.9116-11T>C" "r.(=)" "p.(=)" "" "0000280894" "00000038" "10" "9116" "-5" "9116" "-5" "c.9116-5C>G" "r.spl?" "p.?" "" "0000280895" "00000038" "30" "9806" "0" "9806" "0" "c.9806G>A" "r.(?)" "p.(Arg3269Gln)" "" "0000284096" "00000038" "10" "-23" "0" "-23" "0" "c.-23C>T" "r.(?)" "p.(=)" "" "0000284097" "00000038" "10" "12072" "0" "12072" "0" "c.*33T>A" "r.(=)" "p.(=)" "" "0000284098" "00000038" "10" "10014" "-157" "10014" "-157" "c.10014-157C>T" "r.(=)" "p.(=)" "" "0000284099" "00000038" "10" "10014" "-59" "10014" "-59" "c.10014-59G>A" "r.(=)" "p.(=)" "" "0000284100" "00000038" "10" "10014" "-62" "10014" "-62" "c.10014-62T>C" "r.(=)" "p.(=)" "" "0000284101" "00000038" "10" "10153" "0" "10153" "0" "c.10153T>G" "r.(?)" "p.(Tyr3385Asp)" "" "0000284102" "00000038" "10" "10174" "114" "10174" "114" "c.10174+114T>C" "r.(=)" "p.(=)" "" "0000284103" "00000038" "10" "10174" "184" "10174" "184" "c.10174+184C>A" "r.(=)" "p.(=)" "" "0000284104" "00000038" "10" "10175" "-175" "10175" "-175" "c.10175-175G>A" "r.(=)" "p.(=)" "" "0000284105" "00000038" "10" "10175" "-78" "10175" "-78" "c.10175-78G>A" "r.(=)" "p.(=)" "" "0000284106" "00000038" "10" "10377" "0" "10377" "0" "c.10377C>T" "r.(?)" "p.(Thr3459=)" "" "0000284107" "00000038" "10" "10389" "11" "10389" "11" "c.10389+11C>T" "r.(=)" "p.(=)" "" "0000284108" "00000038" "10" "10390" "-60" "10390" "-60" "c.10390-60T>C" "r.(=)" "p.(=)" "" "0000284109" "00000038" "10" "10390" "-92" "10390" "-92" "c.10390-92G>A" "r.(=)" "p.(=)" "" "0000284110" "00000038" "10" "10494" "0" "10494" "0" "c.10494C>T" "r.(?)" "p.(Thr3498=)" "" "0000284111" "00000038" "10" "10541" "-119" "10541" "-119" "c.10541-119G>A" "r.(=)" "p.(=)" "" "0000284112" "00000038" "10" "10648" "24" "10648" "25" "c.10648+24_10648+25del" "r.(=)" "p.(=)" "" "0000284113" "00000038" "10" "10648" "25" "10648" "25" "c.10648+25del" "r.(=)" "p.(=)" "" "0000284115" "00000038" "10" "10648" "89" "10648" "89" "c.10648+89C>T" "r.(=)" "p.(=)" "" "0000284116" "00000038" "10" "10649" "-192" "10649" "-192" "c.10649-192G>T" "r.(=)" "p.(=)" "" "0000284117" "00000038" "10" "10649" "-29" "10649" "-29" "c.10649-29T>A" "r.(=)" "p.(=)" "" "0000284118" "00000038" "10" "10696" "0" "10696" "0" "c.10696G>A" "r.(?)" "p.(Val3566Ile)" "" "0000284119" "00000038" "10" "108" "115" "108" "115" "c.108+115C>A" "r.(=)" "p.(=)" "" "0000284120" "00000038" "10" "108" "2460" "108" "2460" "c.108+2460G>A" "r.(=)" "p.(=)" "" "0000284121" "00000038" "10" "108" "2502" "108" "2502" "c.108+2502G>C" "r.(=)" "p.(=)" "" "0000284122" "00000038" "10" "108" "2546" "108" "2546" "c.108+2546T>C" "r.(=)" "p.(=)" "" "0000284123" "00000038" "10" "108" "2672" "108" "2672" "c.108+2672G>A" "r.(=)" "p.(=)" "" "0000284124" "00000038" "10" "108" "2769" "108" "2769" "c.108+2769G>A" "r.(=)" "p.(=)" "" "0000284125" "00000038" "90" "108" "2" "108" "2" "c.108+2T>C" "r.spl?" "p.?" "" "0000284126" "00000038" "10" "10808" "67" "10808" "67" "c.10808+67G>A" "r.(=)" "p.(=)" "" "0000284127" "00000038" "10" "10808" "81" "10808" "81" "c.10808+81C>T" "r.(=)" "p.(=)" "" "0000284128" "00000038" "10" "10877" "0" "10877" "0" "c.10877T>C" "r.(?)" "p.(Val3626Ala)" "" "0000284129" "00000038" "10" "109" "-32879" "109" "-32879" "c.109-32879C>T" "r.(=)" "p.(=)" "" "0000284130" "00000038" "10" "11056" "0" "11056" "0" "c.11056C>T" "r.(?)" "p.(Leu3686=)" "" "0000284131" "00000038" "10" "1107" "192" "1107" "192" "c.1107+192G>A" "r.(=)" "p.(=)" "" "0000284132" "00000038" "10" "11092" "89" "11092" "89" "c.11092+89T>A" "r.(=)" "p.(=)" "" "0000284133" "00000038" "10" "11093" "-167" "11093" "-167" "c.11093-167G>A" "r.(=)" "p.(=)" "" "0000284134" "00000038" "10" "11093" "-197" "11093" "-197" "c.11093-197C>T" "r.(=)" "p.(=)" "" "0000284135" "00000038" "30" "11247" "0" "11247" "0" "c.11247G>A" "r.(?)" "p.(Gln3749=)" "" "0000284136" "00000038" "10" "11298" "183" "11298" "183" "c.11298+183C>A" "r.(=)" "p.(=)" "" "0000284137" "00000038" "10" "11445" "68" "11445" "69" "c.11445+68_11445+69del" "r.(=)" "p.(=)" "" "0000284138" "00000038" "50" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385Ter)" "" "0000284139" "00000038" "90" "11544" "0" "11544" "0" "c.11544del" "r.(?)" "p.(Arg3849AspfsTer8)" "" "0000284140" "00000038" "10" "1255" "88" "1255" "88" "c.1255+88C>T" "r.(=)" "p.(=)" "" "0000284141" "00000038" "10" "1256" "-124" "1256" "-124" "c.1256-124C>T" "r.(=)" "p.(=)" "" "0000284142" "00000038" "10" "1396" "0" "1396" "0" "c.1396T>A" "r.(?)" "p.(Leu466Ile)" "" "0000284143" "00000038" "10" "1534" "91" "1534" "91" "c.1534+91G>T" "r.(=)" "p.(=)" "" "0000284144" "00000038" "10" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Val537Met)" "" "0000284145" "00000038" "10" "160" "0" "160" "0" "c.160G>C" "r.(?)" "p.(Asp54His)" "" "0000284146" "00000038" "10" "1678" "72" "1678" "72" "c.1678+72C>G" "r.(=)" "p.(=)" "" "0000284147" "00000038" "10" "1819" "139" "1819" "139" "c.1819+139T>C" "r.(=)" "p.(=)" "" "0000284148" "00000038" "10" "1820" "-26" "1820" "-26" "c.1820-26G>A" "r.(=)" "p.(=)" "" "0000284149" "00000038" "10" "1820" "-74" "1820" "-74" "c.1820-74T>C" "r.(=)" "p.(=)" "" "0000284151" "00000038" "10" "1947" "0" "1947" "0" "c.1947T>C" "r.(?)" "p.(His649=)" "" "0000284152" "00000038" "50" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Cys711Tyr)" "" "0000284153" "00000038" "10" "2137" "333" "2137" "333" "c.2137+333C>T" "r.(=)" "p.(=)" "" "0000284154" "00000038" "10" "2137" "534" "2137" "534" "c.2137+534C>T" "r.(=)" "p.(=)" "" "0000284155" "00000038" "10" "2137" "56" "2137" "56" "c.2137+56C>G" "r.(=)" "p.(=)" "" "0000284156" "00000038" "10" "216" "72" "216" "72" "c.216+72G>T" "r.(=)" "p.(=)" "" "0000284157" "00000038" "50" "2163" "0" "2163" "0" "c.2163T>G" "r.(?)" "p.(Cys721Trp)" "" "0000284158" "00000038" "10" "2279" "-23" "2279" "-23" "c.2279-23C>A" "r.(=)" "p.(=)" "" "0000284159" "00000038" "10" "2279" "-53" "2279" "-53" "c.2279-53G>A" "r.(=)" "p.(=)" "" "0000284160" "00000038" "50" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Cys765Tyr)" "" "0000284161" "00000038" "10" "2313" "0" "2313" "0" "c.2313G>T" "r.(?)" "p.(Pro771=)" "" "0000284162" "00000038" "50" "2327" "0" "2327" "0" "c.2327G>A" "r.(?)" "p.(Cys776Tyr)" "" "0000284163" "00000038" "50" "2327" "0" "2327" "0" "c.2327G>T" "r.(?)" "p.(Cys776Phe)" "" "0000284164" "00000038" "10" "2422" "146" "2422" "146" "c.2422+146C>T" "r.(=)" "p.(=)" "" "0000284165" "00000038" "10" "2450" "0" "2450" "0" "c.2450C>T" "r.(?)" "p.(Ala817Val)" "" "0000284166" "00000038" "10" "2576" "-61" "2576" "-61" "c.2576-61G>A" "r.(=)" "p.(=)" "" "0000284167" "00000038" "30" "2598" "0" "2598" "0" "c.2598C>T" "r.(?)" "p.(Thr866=)" "" "0000284168" "00000038" "30" "2660" "0" "2660" "0" "c.2660C>G" "r.(?)" "p.(Thr887Ser)" "" "0000284169" "00000038" "50" "2719" "0" "2719" "0" "c.2719C>T" "r.(?)" "p.(Gln907Ter)" "" "0000284170" "00000038" "10" "2722" "146" "2722" "146" "c.2722+146G>A" "r.(=)" "p.(=)" "" "0000284171" "00000038" "90" "2722" "1" "2722" "1" "c.2722+1G>A" "r.spl?" "p.?" "" "0000284172" "00000038" "10" "2869" "137" "2869" "137" "c.2869+137G>A" "r.(=)" "p.(=)" "" "0000284173" "00000038" "30" "3058" "0" "3058" "0" "c.3058C>T" "r.(?)" "p.(Arg1020Cys)" "" "0000284174" "00000038" "10" "3068" "0" "3068" "0" "c.3068G>A" "r.(?)" "p.(Gly1023Glu)" "" "0000284175" "00000038" "10" "309" "89" "309" "89" "c.309+89T>G" "r.(=)" "p.(=)" "" "0000284176" "00000038" "10" "310" "-21" "310" "-21" "c.310-21T>C" "r.(=)" "p.(=)" "" "0000284177" "00000038" "10" "310" "-20" "310" "-20" "c.310-20del" "r.(=)" "p.(=)" "" "0000284178" "00000038" "10" "3124" "0" "3124" "0" "c.3124G>A" "r.(?)" "p.(Ala1042Thr)" "" "0000284180" "00000038" "10" "3151" "14" "3151" "15" "c.3151+14_3151+15dup" "r.(=)" "p.(=)" "" "0000284181" "00000038" "10" "3151" "160" "3151" "160" "c.3151+160G>A" "r.(=)" "p.(=)" "" "0000284182" "00000038" "10" "3312" "0" "3312" "0" "c.3312T>C" "r.(?)" "p.(Ser1104=)" "" "0000284183" "00000038" "10" "3406" "0" "3406" "0" "c.3406G>A" "r.(?)" "p.(Glu1136Lys)" "" "0000284184" "00000038" "10" "3564" "-36" "3564" "-36" "c.3564-36T>G" "r.(=)" "p.(=)" "" "0000284185" "00000038" "10" "3564" "-65" "3564" "-65" "c.3564-65C>G" "r.(=)" "p.(=)" "" "0000284186" "00000038" "10" "3649" "-83" "3649" "-83" "c.3649-83T>C" "r.(=)" "p.(=)" "" "0000284187" "00000038" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Ter)" "" "0000284188" "00000038" "10" "380" "0" "380" "0" "c.380C>G" "r.(?)" "p.(Pro127Arg)" "" "0000284189" "00000038" "10" "3976" "-112" "3976" "-111" "c.3976-112_3976-111dup" "r.(=)" "p.(=)" "" "0000284191" "00000038" "10" "3976" "-98" "3976" "-98" "c.3976-98G>T" "r.(=)" "p.(=)" "" "0000284192" "00000038" "10" "4129" "169" "4129" "169" "c.4129+169C>T" "r.(=)" "p.(=)" "" "0000284193" "00000038" "10" "4130" "-78" "4130" "-78" "c.4130-78dup" "r.(=)" "p.(=)" "" "0000284195" "00000038" "10" "4425" "25" "4425" "25" "c.4425+25T>A" "r.(=)" "p.(=)" "" "0000284196" "00000038" "10" "4426" "-153" "4426" "-153" "c.4426-153G>C" "r.(=)" "p.(=)" "" "0000284197" "00000038" "10" "4426" "-78" "4426" "-78" "c.4426-78dup" "r.(=)" "p.(=)" "" "0000284199" "00000038" "10" "4540" "144" "4540" "144" "c.4540+144C>T" "r.(=)" "p.(=)" "" "0000284200" "00000038" "30" "4540" "48" "4540" "48" "c.4540+48G>A" "r.(=)" "p.(=)" "" "0000284201" "00000038" "10" "4635" "0" "4635" "0" "c.4635G>A" "r.(?)" "p.(Pro1545=)" "" "0000284202" "00000038" "10" "4678" "132" "4678" "132" "c.4678+132G>C" "r.(=)" "p.(=)" "" "0000284203" "00000038" "10" "470" "-71" "470" "-71" "c.470-71C>T" "r.(=)" "p.(=)" "" "0000284204" "00000038" "10" "4711" "82" "4711" "84" "c.4711+82_4711+84del" "r.(=)" "p.(=)" "" "0000284205" "00000038" "10" "4712" "-134" "4712" "-134" "c.4712-134C>T" "r.(=)" "p.(=)" "" "0000284206" "00000038" "10" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Arg173Gln)" "" "0000284207" "00000038" "50" "5217" "1" "5217" "1" "c.5217+1G>A" "r.spl?" "p.?" "" "0000284208" "00000038" "10" "5366" "13" "5366" "13" "c.5366+13T>G" "r.(=)" "p.(=)" "" "0000284209" "00000038" "10" "5666" "-1197" "5666" "-1197" "c.5666-1197C>T" "r.(=)" "p.(=)" "" "0000284210" "00000038" "10" "5666" "-1245" "5666" "-1245" "c.5666-1245G>A" "r.(=)" "p.(=)" "" "0000284211" "00000038" "10" "5666" "-1524" "5666" "-1524" "c.5666-1524G>A" "r.(=)" "p.(=)" "" "0000284212" "00000038" "10" "5666" "-21" "5666" "-21" "c.5666-21G>C" "r.(=)" "p.(=)" "" "0000284213" "00000038" "10" "5666" "-89" "5666" "-89" "c.5666-89del" "r.(=)" "p.(=)" "" "0000284214" "00000038" "10" "5725" "0" "5725" "0" "c.5725G>A" "r.(?)" "p.(Val1909Ile)" "" "0000284215" "00000038" "10" "572" "0" "572" "0" "c.572C>T" "r.(?)" "p.(Thr191Ile)" "" "0000284216" "00000038" "90" "603" "2" "603" "2" "c.603+2T>A" "r.spl?" "p.?" "" "0000284217" "00000038" "10" "604" "-132" "604" "-132" "c.604-132G>A" "r.(=)" "p.(=)" "" "0000284218" "00000038" "10" "6444" "0" "6444" "0" "c.6444C>T" "r.(?)" "p.(Thr2148=)" "" "0000284219" "00000038" "10" "6468" "0" "6468" "0" "c.6468C>T" "r.(?)" "p.(His2156=)" "" "0000284220" "00000038" "10" "6584" "-75" "6584" "-75" "c.6584-75T>C" "r.(=)" "p.(=)" "" "0000284221" "00000038" "10" "6764" "-141" "6764" "-141" "c.6764-141G>A" "r.(=)" "p.(=)" "" "0000284222" "00000038" "90" "6787" "0" "6787" "0" "c.6787C>T" "r.(?)" "p.(Gln2263Ter)" "" "0000284223" "00000038" "90" "6805" "0" "6805" "0" "c.6805C>T" "r.(?)" "p.(Arg2269Ter)" "" "0000284224" "00000038" "10" "687" "69" "687" "69" "c.687+69C>T" "r.(=)" "p.(=)" "" "0000284225" "00000038" "10" "688" "-156" "688" "-156" "c.688-156G>A" "r.(=)" "p.(=)" "" "0000284226" "00000038" "50" "688" "-5" "688" "-5" "c.688-5T>G" "r.spl?" "p.?" "" "0000284227" "00000038" "10" "688" "-88" "688" "-88" "c.688-88T>G" "r.(=)" "p.(=)" "" "0000284228" "00000038" "10" "6924" "0" "6924" "0" "c.6924C>T" "r.(?)" "p.(Val2308=)" "" "0000284229" "00000038" "30" "6939" "0" "6939" "0" "c.6939C>T" "r.(?)" "p.(Pro2313=)" "" "0000284230" "00000038" "10" "7011" "0" "7011" "0" "c.7011G>A" "r.(?)" "p.(Ala2337=)" "" "0000284231" "00000038" "10" "7029" "66" "7029" "66" "c.7029+66G>A" "r.(=)" "p.(=)" "" "0000284232" "00000038" "90" "7030" "-6" "7030" "-6" "c.7030-6G>A" "r.(=)" "p.(=)" "" "0000284233" "00000038" "10" "7030" "-81" "7030" "-81" "c.7030-81T>G" "r.(=)" "p.(=)" "" "0000284234" "00000038" "10" "7030" "-84" "7030" "-84" "c.7030-84C>A" "r.(=)" "p.(=)" "" "0000284235" "00000038" "10" "7110" "0" "7110" "0" "c.7110C>T" "r.(?)" "p.(His2370=)" "" "0000284236" "00000038" "10" "7258" "-112" "7258" "-112" "c.7258-112C>T" "r.(=)" "p.(=)" "" "0000284237" "00000038" "90" "7285" "0" "7285" "0" "c.7285C>T" "r.(?)" "p.(Arg2429Ter)" "" "0000284238" "00000038" "10" "7371" "11" "7371" "11" "c.7371+11T>C" "r.(=)" "p.(=)" "" "0000284239" "00000038" "10" "7371" "147" "7371" "147" "c.7371+147G>A" "r.(=)" "p.(=)" "" "0000284240" "00000038" "10" "7371" "179" "7371" "179" "c.7371+179C>T" "r.(=)" "p.(=)" "" "0000284241" "00000038" "10" "7371" "182" "7371" "182" "c.7371+182T>G" "r.(=)" "p.(=)" "" "0000284242" "00000038" "10" "7371" "82" "7371" "82" "c.7371+82T>C" "r.(=)" "p.(=)" "" "0000284243" "00000038" "10" "7372" "-65" "7372" "-65" "c.7372-65T>C" "r.(=)" "p.(=)" "" "0000284244" "00000038" "10" "7522" "88" "7522" "88" "c.7522+88C>T" "r.(=)" "p.(=)" "" "0000284247" "00000038" "30" "76" "36" "76" "37" "c.76+36_76+37del" "r.(=)" "p.(=)" "" "0000284248" "00000038" "10" "76" "36" "76" "36" "c.76+36C>T" "r.(=)" "p.(=)" "" "0000284250" "00000038" "10" "7682" "85" "7682" "85" "c.7682+85C>G" "r.(=)" "p.(=)" "" "0000284251" "00000038" "30" "776" "0" "776" "0" "c.776T>G" "r.(?)" "p.(Leu259Arg)" "" "0000284252" "00000038" "30" "789" "12" "789" "12" "c.789+12T>G" "r.(=)" "p.(=)" "" "0000284253" "00000038" "10" "789" "72" "789" "72" "c.789+72G>A" "r.(=)" "p.(=)" "" "0000284254" "00000038" "50" "8042" "0" "8044" "0" "c.8042_8044del" "r.(?)" "p.(Lys2681del)" "" "0000284255" "00000038" "10" "8099" "-124" "8099" "-124" "c.8099-124C>T" "r.(=)" "p.(=)" "" "0000284256" "00000038" "30" "8417" "0" "8417" "0" "c.8417C>T" "r.(?)" "p.(Thr2806Met)" "" "0000284257" "00000038" "10" "8439" "0" "8439" "0" "c.8439C>T" "r.(?)" "p.(Asp2813=)" "" "0000284258" "00000038" "30" "8574" "0" "8574" "0" "c.8574G>A" "r.(?)" "p.(Lys2858=)" "" "0000284259" "00000038" "10" "8745" "0" "8745" "0" "c.8745C>T" "r.(?)" "p.(Phe2915=)" "" "0000284260" "00000038" "10" "8752" "58" "8752" "58" "c.8752+58C>A" "r.(=)" "p.(=)" "" "0000284261" "00000038" "10" "8753" "-130" "8753" "-130" "c.8753-130T>C" "r.(=)" "p.(=)" "" "0000284262" "00000038" "10" "8753" "-32" "8753" "-32" "c.8753-32T>C" "r.(=)" "p.(=)" "" "0000284263" "00000038" "70" "8783" "0" "8783" "0" "c.8783T>C" "r.(?)" "p.(Leu2928Pro)" "" "0000284264" "00000038" "10" "8832" "0" "8832" "0" "c.8832C>T" "r.(?)" "p.(Ser2944=)" "" "0000284265" "00000038" "10" "8959" "-136" "8959" "-136" "c.8959-136T>A" "r.(=)" "p.(=)" "" "0000284266" "00000038" "10" "8959" "-173" "8959" "-173" "c.8959-173C>T" "r.(=)" "p.(=)" "" "0000284267" "00000038" "10" "8959" "-96" "8959" "-96" "c.8959-96G>A" "r.(=)" "p.(=)" "" "0000284268" "00000038" "10" "9116" "-11" "9116" "-11" "c.9116-11T>C" "r.(=)" "p.(=)" "" "0000284269" "00000038" "10" "9116" "-211" "9116" "-211" "c.9116-211C>T" "r.(=)" "p.(=)" "" "0000284270" "00000038" "10" "9116" "-5" "9116" "-5" "c.9116-5C>G" "r.spl?" "p.?" "" "0000284271" "00000038" "10" "9116" "-6" "9116" "-6" "c.9116-6C>T" "r.(=)" "p.(=)" "" "0000284272" "00000038" "10" "9116" "-88" "9116" "-88" "c.9116-88C>T" "r.(=)" "p.(=)" "" "0000284273" "00000038" "10" "9252" "0" "9252" "0" "c.9252G>T" "r.(?)" "p.(Arg3084=)" "" "0000284274" "00000038" "10" "9296" "0" "9296" "0" "c.9296G>A" "r.(?)" "p.(Arg3099Gln)" "" "0000284275" "00000038" "10" "9317" "-128" "9317" "-128" "c.9317-128G>A" "r.(=)" "p.(=)" "" "0000284276" "00000038" "90" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Gln312Ter)" "" "0000284277" "00000038" "10" "9446" "0" "9446" "0" "c.9446C>T" "r.(?)" "p.(Thr3149Met)" "" "0000284278" "00000038" "10" "9504" "34" "9504" "34" "c.9504+34C>T" "r.(=)" "p.(=)" "" "0000284279" "00000038" "90" "9525" "0" "9525" "0" "c.9525T>A" "r.(?)" "p.(Tyr3175Ter)" "" "0000284280" "00000038" "10" "9780" "160" "9780" "160" "c.9780+160del" "r.(=)" "p.(=)" "" "0000284281" "00000038" "10" "979" "0" "979" "0" "c.979C>T" "r.(?)" "p.(Arg327Trp)" "" "0000284282" "00000038" "10" "9806" "0" "9806" "0" "c.9806G>A" "r.(?)" "p.(Arg3269Gln)" "" "0000284283" "00000038" "10" "981" "9" "981" "9" "c.981+9C>T" "r.(=)" "p.(=)" "" "0000284284" "00000038" "30" "9955" "0" "9955" "0" "c.9955C>G" "r.(?)" "p.(Gln3319Glu)" "" "0000287873" "00000038" "30" "10248" "0" "10248" "0" "c.10248T>C" "r.(?)" "p.(Phe3416=)" "" "0000287874" "00000038" "10" "10312" "0" "10312" "0" "c.10312G>A" "r.(?)" "p.(Val3438Met)" "" "0000287875" "00000038" "90" "10681" "0" "10688" "0" "c.10681_10688del" "r.(?)" "p.(Glu3561IlefsTer13)" "" "0000287876" "00000038" "30" "1072" "-5" "1072" "-5" "c.1072-5C>T" "r.spl?" "p.?" "" "0000287877" "00000038" "50" "11274" "0" "11274" "0" "c.11274C>A" "r.(?)" "p.(His3758Gln)" "" "0000287878" "00000038" "30" "11695" "0" "11695" "0" "c.11695C>T" "r.(?)" "p.(Leu3899=)" "" "0000287879" "00000038" "30" "11945" "0" "11945" "0" "c.11945C>T" "r.(?)" "p.(Pro3982Leu)" "" "0000287880" "00000038" "30" "1399" "6" "1399" "6" "c.1399+6G>T" "r.(=)" "p.(=)" "" "0000287881" "00000038" "30" "1590" "0" "1590" "0" "c.1590C>T" "r.(?)" "p.(Ala530=)" "" "0000287882" "00000038" "10" "160" "0" "160" "0" "c.160G>C" "r.(?)" "p.(Asp54His)" "" "0000287883" "00000038" "30" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Gly595Ser)" "" "0000287884" "00000038" "30" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Arg640Cys)" "" "0000287885" "00000038" "10" "2861" "0" "2861" "0" "c.2861C>T" "r.(?)" "p.(Thr954Met)" "" "0000287886" "00000038" "30" "3117" "0" "3117" "0" "c.3117G>A" "r.(?)" "p.(Gly1039=)" "" "0000287887" "00000038" "10" "380" "0" "380" "0" "c.380C>G" "r.(?)" "p.(Pro127Arg)" "" "0000287888" "00000038" "50" "4367" "0" "4367" "0" "c.4367T>C" "r.(?)" "p.(Ile1456Thr)" "" "0000287889" "00000038" "30" "4815" "0" "4815" "0" "c.4815G>A" "r.(?)" "p.(Ala1605=)" "" "0000287890" "00000038" "30" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Arg176Gln)" "" "0000287891" "00000038" "30" "5474" "0" "5474" "0" "c.5474T>C" "r.(?)" "p.(Met1825Thr)" "" "0000287892" "00000038" "10" "5856" "25" "5856" "25" "c.5856+25G>A" "r.(=)" "p.(=)" "" "0000287893" "00000038" "30" "6009" "0" "6009" "0" "c.6009C>T" "r.(?)" "p.(His2003=)" "" "0000287894" "00000038" "10" "776" "0" "776" "0" "c.776T>G" "r.(?)" "p.(Leu259Arg)" "" "0000287895" "00000038" "10" "8215" "0" "8215" "0" "c.8215G>A" "r.(?)" "p.(Ala2739Thr)" "" "0000287896" "00000038" "30" "8557" "0" "8557" "0" "c.8557G>A" "r.(?)" "p.(Val2853Ile)" "" "0000287897" "00000038" "50" "8671" "0" "8671" "0" "c.8671G>A" "r.(?)" "p.(Val2891Ile)" "" "0000287898" "00000038" "30" "8832" "0" "8832" "0" "c.8832C>T" "r.(?)" "p.(Ser2944=)" "" "0000287899" "00000038" "50" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Glu296Lys)" "" "0000329979" "00000038" "30" "776" "0" "776" "0" "c.776T>G" "r.(?)" "p.(Leu259Arg)" "" "0000329981" "00000038" "30" "979" "0" "979" "0" "c.979C>T" "r.(?)" "p.(Arg327Trp)" "" "0000329983" "00000038" "50" "1093" "0" "1093" "0" "c.1093G>T" "r.(?)" "p.(Val365Phe)" "" "0000329987" "00000038" "50" "2827" "0" "2827" "0" "c.2827G>A" "r.(?)" "p.(Ala943Thr)" "" "0000329989" "00000038" "30" "3065" "0" "3065" "0" "c.3065A>C" "r.(?)" "p.(Lys1022Thr)" "" "0000329990" "00000038" "30" "3963" "0" "3963" "0" "c.3963G>C" "r.(?)" "p.(Lys1321Asn)" "" "0000329992" "00000038" "30" "4579" "0" "4579" "0" "c.4579C>T" "r.(?)" "p.(Arg1527Trp)" "" "0000329994" "00000038" "50" "4955" "0" "4955" "0" "c.4955G>A" "r.(?)" "p.(Arg1652Lys)" "" "0000329995" "00000038" "50" "5669" "0" "5669" "0" "c.5669A>T" "r.(?)" "p.(Asp1890Val)" "" "0000329997" "00000038" "30" "6010" "8" "6010" "8" "c.6010+8A>G" "r.(=)" "p.(=)" "" "0000330000" "00000038" "50" "6797" "0" "6797" "0" "c.6797T>C" "r.(?)" "p.(Leu2266Pro)" "" "0000330001" "00000038" "50" "6927" "0" "6927" "0" "c.6927T>A" "r.(?)" "p.(Asp2309Glu)" "" "0000330002" "00000038" "50" "7015" "0" "7015" "0" "c.7015G>C" "r.(?)" "p.(Asp2339His)" "" "0000330003" "00000038" "30" "7039" "0" "7039" "0" "c.7039G>T" "r.(?)" "p.(Val2347Phe)" "" "0000330004" "00000038" "30" "7103" "0" "7103" "0" "c.7103A>G" "r.(?)" "p.(His2368Arg)" "" "0000330005" "00000038" "50" "7622" "0" "7622" "0" "c.7622A>G" "r.(?)" "p.(Asn2541Ser)" "" "0000330006" "00000038" "50" "7766" "0" "7766" "0" "c.7766G>A" "r.(?)" "p.(Cys2589Tyr)" "" "0000330008" "00000038" "30" "8417" "0" "8417" "0" "c.8417C>T" "r.(?)" "p.(Thr2806Met)" "" "0000330010" "00000038" "50" "9296" "0" "9296" "0" "c.9296G>A" "r.(?)" "p.(Arg3099Gln)" "" "0000330012" "00000038" "50" "9364" "0" "9364" "0" "c.9364C>T" "r.(?)" "p.(Arg3122Trp)" "" "0000330013" "00000038" "50" "9446" "0" "9446" "0" "c.9446C>T" "r.(?)" "p.(Thr3149Met)" "" "0000330016" "00000038" "50" "9650" "0" "9650" "0" "c.9650G>A" "r.(?)" "p.(Ser3217Asn)" "" "0000330017" "00000038" "30" "9955" "0" "9955" "0" "c.9955C>G" "r.(?)" "p.(Gln3319Glu)" "" "0000330018" "00000038" "30" "9973" "0" "9973" "0" "c.9973T>G" "r.(?)" "p.(Leu3325Val)" "" "0000330020" "00000038" "50" "10558" "0" "10558" "0" "c.10558G>A" "r.(?)" "p.(Val3520Met)" "" "0000330022" "00000038" "50" "11902" "0" "11902" "0" "c.11902A>G" "r.(?)" "p.(Arg3968Gly)" "" "0000330023" "00000038" "50" "11918" "0" "11918" "0" "c.11918T>C" "r.(?)" "p.(Val3973Ala)" "" "0000342606" "00000038" "50" "9364" "0" "9364" "0" "c.9364C>T" "r.(?)" "p.(Arg3122Trp)" "" "0000344176" "00000038" "10" "2060" "0" "2060" "0" "c.2060A>G" "r.(?)" "p.(Asp687Gly)" "" "0000407993" "00000038" "00" "11331" "0" "11331" "0" "c.11331C>T" "r.(=)" "p.(=)" "" "0000523173" "00000038" "10" "76" "30" "76" "35" "c.76+30_76+35dup" "r.(=)" "p.(=)" "" "0000523174" "00000038" "10" "76" "34" "76" "35" "c.76+34_76+35dup" "r.(=)" "p.(=)" "" "0000523175" "00000038" "30" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Ala36Val)" "" "0000523177" "00000038" "30" "201" "0" "201" "0" "c.201A>G" "r.(?)" "p.(Gln67=)" "" "0000523178" "00000038" "30" "308" "0" "308" "0" "c.308A>T" "r.(?)" "p.(Glu103Val)" "" "0000523180" "00000038" "10" "380" "0" "380" "0" "c.380C>G" "r.(?)" "p.(Pro127Arg)" "" "0000523181" "00000038" "70" "469" "0" "469" "0" "c.469A>T" "r.(?)" "p.(Lys157Ter)" "" "0000523182" "00000038" "10" "470" "-151" "470" "-151" "c.470-151G>A" "r.(=)" "p.(=)" "" "0000523183" "00000038" "10" "470" "-35" "470" "-35" "c.470-35T>C" "r.(=)" "p.(=)" "" "0000523184" "00000038" "30" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Arg173Gln)" "" "0000523185" "00000038" "30" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Arg176Gln)" "" "0000523186" "00000038" "50" "539" "0" "539" "0" "c.539G>T" "r.(?)" "p.(Cys180Phe)" "" "0000523187" "00000038" "10" "604" "-8" "604" "-8" "c.604-8G>A" "r.(=)" "p.(=)" "" "0000523188" "00000038" "10" "604" "-8" "604" "-8" "c.604-8G>A" "r.(=)" "p.(=)" "" "0000523189" "00000038" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Pro214Leu)" "" "0000523190" "00000038" "30" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Glu236Lys)" "" "0000523191" "00000038" "30" "727" "0" "727" "0" "c.727A>G" "r.(?)" "p.(Ile243Val)" "" "0000523192" "00000038" "30" "789" "7" "789" "7" "c.789+7G>A" "r.(=)" "p.(=)" "" "0000523193" "00000038" "10" "789" "71" "789" "71" "c.789+71C>T" "r.(=)" "p.(=)" "" "0000523196" "00000038" "30" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Glu296Lys)" "" "0000523197" "00000038" "30" "969" "0" "969" "0" "c.969G>A" "r.(?)" "p.(Val323=)" "" "0000523198" "00000038" "30" "1108" "-8" "1108" "-8" "c.1108-8T>C" "r.(=)" "p.(=)" "" "0000523199" "00000038" "30" "1286" "0" "1286" "0" "c.1286C>A" "r.(?)" "p.(Ser429Tyr)" "" "0000523200" "00000038" "30" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Leu445=)" "" "0000523201" "00000038" "50" "1486" "0" "1486" "0" "c.1486G>T" "r.(?)" "p.(Val496Leu)" "" "0000523203" "00000038" "10" "1617" "0" "1617" "0" "c.1617A>G" "r.(?)" "p.(Arg539=)" "" "0000523204" "00000038" "30" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Ser545=)" "" "0000523205" "00000038" "10" "1710" "0" "1710" "0" "c.1710C>T" "r.(?)" "p.(Pro570=)" "" "0000523207" "00000038" "30" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Gly595Ser)" "" "0000523210" "00000038" "90" "1887" "0" "1887" "0" "c.1887dup" "r.(?)" "p.(Lys630GlnfsTer19)" "" "0000523211" "00000038" "50" "1897" "0" "1897" "0" "c.1897C>T" "r.(?)" "p.(Arg633Cys)" "" "0000523212" "00000038" "30" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Arg640Cys)" "" "0000523213" "00000038" "30" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Arg640Cys)" "" "0000523217" "00000038" "30" "2138" "-3" "2138" "-3" "c.2138-3dup" "r.spl?" "p.?" "" "0000523218" "00000038" "30" "2138" "-3" "2138" "-3" "c.2138-3dup" "r.spl?" "p.?" "" "0000523219" "00000038" "50" "2186" "0" "2186" "0" "c.2186G>T" "r.(?)" "p.(Cys729Phe)" "" "0000523220" "00000038" "50" "2345" "0" "2345" "0" "c.2345A>T" "r.(?)" "p.(His782Leu)" "" "0000523221" "00000038" "30" "2406" "0" "2406" "0" "c.2406C>T" "r.(?)" "p.(Leu802=)" "" "0000523222" "00000038" "30" "2598" "0" "2598" "0" "c.2598C>T" "r.(?)" "p.(Thr866=)" "" "0000523223" "00000038" "30" "2835" "0" "2835" "0" "c.2835G>A" "r.(?)" "p.(Gln945=)" "" "0000523225" "00000038" "50" "2935" "0" "2935" "0" "c.2935G>A" "r.(?)" "p.(Gly979Ser)" "" "0000523226" "00000038" "50" "2956" "0" "2956" "0" "c.2956G>A" "r.(?)" "p.(Ala986Thr)" "" "0000523227" "00000038" "50" "3058" "0" "3058" "0" "c.3058C>T" "r.(?)" "p.(Arg1020Cys)" "" "0000523230" "00000038" "30" "3151" "14" "3151" "15" "c.3151+14_3151+15dup" "r.(=)" "p.(=)" "" "0000523231" "00000038" "10" "3151" "14" "3151" "15" "c.3151+14_3151+15insTG" "r.(=)" "p.(=)" "" "0000523232" "00000038" "30" "3178" "0" "3178" "0" "c.3178A>C" "r.(?)" "p.(Ser1060Arg)" "" "0000523234" "00000038" "50" "3419" "0" "3419" "0" "c.3419T>G" "r.(?)" "p.(Phe1140Cys)" "" "0000523235" "00000038" "30" "3493" "0" "3493" "0" "c.3493G>A" "r.(?)" "p.(Ala1165Thr)" "" "0000523237" "00000038" "30" "3700" "0" "3700" "0" "c.3700G>A" "r.(?)" "p.(Ala1234Thr)" "" "0000523238" "00000038" "90" "3730" "0" "3730" "0" "c.3730C>T" "r.(?)" "p.(Arg1244Ter)" "" "0000523239" "00000038" "30" "3792" "0" "3792" "0" "c.3792A>G" "r.(?)" "p.(Gln1264=)" "" "0000523240" "00000038" "10" "3976" "-117" "3976" "-116" "c.3976-117_3976-116insTC" "r.(=)" "p.(=)" "" "0000523241" "00000038" "50" "4159" "0" "4159" "0" "c.4159G>T" "r.(?)" "p.(Ala1387Ser)" "" "0000523242" "00000038" "50" "4160" "0" "4160" "0" "c.4160C>T" "r.(?)" "p.(Ala1387Val)" "" "0000523243" "00000038" "50" "4188" "0" "4188" "0" "c.4188C>A" "r.(?)" "p.(His1396Gln)" "" "0000523245" "00000038" "50" "4364" "0" "4364" "0" "c.4364C>T" "r.(?)" "p.(Ala1455Val)" "" "0000523247" "00000038" "30" "4364" "0" "4364" "0" "c.4364C>T" "r.(?)" "p.(Ala1455Val)" "" "0000523248" "00000038" "30" "4365" "0" "4365" "0" "c.4365G>A" "r.(?)" "p.(Ala1455=)" "" "0000523249" "00000038" "30" "4512" "0" "4512" "0" "c.4512C>T" "r.(?)" "p.(Asn1504=)" "" "0000523250" "00000038" "30" "4579" "0" "4579" "0" "c.4579C>T" "r.(?)" "p.(Arg1527Trp)" "" "0000523251" "00000038" "30" "4579" "0" "4579" "0" "c.4579C>T" "r.(?)" "p.(Arg1527Trp)" "" "0000523252" "00000038" "30" "4648" "0" "4648" "0" "c.4648C>T" "r.(?)" "p.(Leu1550Phe)" "" "0000523253" "00000038" "30" "4648" "0" "4648" "0" "c.4648C>T" "r.(?)" "p.(Leu1550Phe)" "" "0000523254" "00000038" "30" "4656" "0" "4656" "0" "c.4656G>A" "r.(?)" "p.(Glu1552=)" "" "0000523255" "00000038" "10" "4844" "-194" "4844" "-194" "c.4844-194C>G" "r.(=)" "p.(=)" "" "0000523256" "00000038" "10" "4877" "0" "4877" "0" "c.4877C>T" "r.(?)" "p.(Ala1626Val)" "" "0000523258" "00000038" "30" "4940" "0" "4940" "0" "c.4940C>T" "r.(?)" "p.(Thr1647Ile)" "" "0000523259" "00000038" "30" "5006" "0" "5006" "0" "c.5006C>T" "r.(?)" "p.(Ala1669Val)" "" "0000523260" "00000038" "10" "5046" "0" "5046" "0" "c.5046C>G" "r.(?)" "p.(Asp1682Glu)" "" "0000523262" "00000038" "50" "5046" "0" "5046" "0" "c.5046C>G" "r.(?)" "p.(Asp1682Glu)" "" "0000523263" "00000038" "30" "5474" "0" "5474" "0" "c.5474T>G" "r.(?)" "p.(Met1825Arg)" "" "0000523264" "00000038" "30" "5474" "0" "5474" "0" "c.5474T>G" "r.(?)" "p.(Met1825Arg)" "" "0000523266" "00000038" "10" "5529" "154" "5529" "154" "c.5529+154A>G" "r.(=)" "p.(=)" "" "0000523267" "00000038" "10" "5530" "-107" "5530" "-107" "c.5530-107A>G" "r.(=)" "p.(=)" "" "0000523268" "00000038" "50" "5540" "0" "5540" "0" "c.5540G>T" "r.(?)" "p.(Gly1847Val)" "" "0000523269" "00000038" "30" "5703" "0" "5703" "0" "c.5703G>A" "r.(?)" "p.(Glu1901=)" "" "0000523270" "00000038" "50" "5822" "0" "5822" "0" "c.5822G>A" "r.(?)" "p.(Arg1941His)" "" "0000523272" "00000038" "30" "5947" "0" "5947" "0" "c.5947C>T" "r.(?)" "p.(Leu1983=)" "" "0000523273" "00000038" "10" "6301" "0" "6301" "0" "c.6301C>T" "r.(?)" "p.(His2101Tyr)" "" "0000523274" "00000038" "10" "6463" "86" "6463" "86" "c.6463+86G>A" "r.(=)" "p.(=)" "" "0000523276" "00000038" "30" "6608" "0" "6608" "0" "c.6608C>T" "r.(?)" "p.(Thr2203Ile)" "" "0000523277" "00000038" "30" "6691" "0" "6691" "0" "c.6691G>A" "r.(?)" "p.(Gly2231Arg)" "" "0000523278" "00000038" "30" "6754" "0" "6754" "0" "c.6754G>A" "r.(?)" "p.(Ala2252Thr)" "" "0000523279" "00000038" "50" "6927" "0" "6927" "0" "c.6927T>A" "r.(?)" "p.(Asp2309Glu)" "" "0000523280" "00000038" "50" "7015" "0" "7015" "0" "c.7015G>C" "r.(?)" "p.(Asp2339His)" "" "0000523281" "00000038" "50" "7030" "-3" "7030" "-3" "c.7030-3C>G" "r.spl?" "p.?" "" "0000523282" "00000038" "50" "7039" "0" "7039" "0" "c.7039G>T" "r.(?)" "p.(Val2347Phe)" "" "0000523283" "00000038" "30" "7039" "0" "7039" "0" "c.7039G>T" "r.(?)" "p.(Val2347Phe)" "" "0000523284" "00000038" "30" "7053" "0" "7053" "0" "c.7053C>T" "r.(?)" "p.(Ile2351=)" "" "0000523285" "00000038" "50" "7223" "0" "7223" "0" "c.7223A>G" "r.(?)" "p.(Asn2408Ser)" "" "0000523286" "00000038" "50" "7250" "0" "7250" "0" "c.7250G>A" "r.(?)" "p.(Gly2417Glu)" "" "0000523287" "00000038" "10" "7258" "-96" "7258" "-96" "c.7258-96T>C" "r.(=)" "p.(=)" "" "0000523288" "00000038" "50" "7301" "0" "7301" "0" "c.7301C>T" "r.(?)" "p.(Pro2434Leu)" "" "0000523290" "00000038" "50" "7451" "0" "7451" "0" "c.7451C>T" "r.(?)" "p.(Thr2484Met)" "" "0000523291" "00000038" "50" "7466" "0" "7466" "0" "c.7466A>G" "r.(?)" "p.(His2489Arg)" "" "0000523292" "00000038" "10" "7682" "206" "7682" "207" "c.7682+206_7682+207insTA" "r.(=)" "p.(=)" "" "0000523294" "00000038" "30" "7851" "6" "7851" "6" "c.7851+6dup" "r.(=)" "p.(=)" "" "0000523297" "00000038" "30" "8940" "0" "8940" "0" "c.8940A>G" "r.(?)" "p.(Thr2980=)" "" "0000523299" "00000038" "30" "9097" "0" "9097" "0" "c.9097A>G" "r.(?)" "p.(Ile3033Val)" "" "0000523301" "00000038" "50" "9292" "0" "9292" "0" "c.9292A>G" "r.(?)" "p.(Ser3098Gly)" "" "0000523302" "00000038" "50" "9363" "0" "9363" "0" "c.9363C>A" "r.(?)" "p.(Asp3121Glu)" "" "0000523303" "00000038" "50" "9364" "0" "9364" "0" "c.9364C>T" "r.(?)" "p.(Arg3122Trp)" "" "0000523305" "00000038" "30" "9806" "0" "9806" "0" "c.9806G>A" "r.(?)" "p.(Arg3269Gln)" "" "0000523306" "00000038" "50" "9827" "0" "9827" "0" "c.9827T>C" "r.(?)" "p.(Val3276Ala)" "" "0000523307" "00000038" "10" "10013" "122" "10013" "122" "c.10013+122A>G" "r.(=)" "p.(=)" "" "0000523308" "00000038" "10" "10149" "0" "10149" "0" "c.10149C>T" "r.(?)" "p.(Thr3383=)" "" "0000523310" "00000038" "50" "10426" "0" "10426" "0" "c.10426G>A" "r.(?)" "p.(Val3476Met)" "" "0000523311" "00000038" "10" "11037" "0" "11037" "0" "c.11037C>G" "r.(?)" "p.(Pro3679=)" "" "0000523312" "00000038" "10" "11037" "0" "11037" "0" "c.11037C>G" "r.(?)" "p.(Pro3679=)" "" "0000523313" "00000038" "10" "11093" "-37" "11093" "-37" "c.11093-37A>G" "r.(=)" "p.(=)" "" "0000523314" "00000038" "50" "11264" "0" "11264" "0" "c.11264C>T" "r.(?)" "p.(Pro3755Leu)" "" "0000523315" "00000038" "10" "11298" "168" "11298" "168" "c.11298+168A>G" "r.(=)" "p.(=)" "" "0000523316" "00000038" "10" "11299" "-73" "11299" "-73" "c.11299-73C>T" "r.(=)" "p.(=)" "" "0000523317" "00000038" "50" "11386" "0" "11386" "0" "c.11386G>T" "r.(?)" "p.(Val3796Leu)" "" "0000523318" "00000038" "90" "11544" "0" "11544" "0" "c.11544del" "r.(?)" "p.(Arg3849AspfsTer8)" "" "0000523319" "00000038" "90" "11544" "0" "11544" "0" "c.11544del" "r.(?)" "p.(Arg3849AspfsTer8)" "" "0000523320" "00000038" "30" "11553" "0" "11553" "0" "c.11553C>A" "r.(?)" "p.(Asn3851Lys)" "" "0000523322" "00000038" "30" "11717" "0" "11717" "0" "c.11717T>C" "r.(?)" "p.(Ile3906Thr)" "" "0000523323" "00000038" "10" "11720" "0" "11720" "0" "c.11720G>T" "r.(?)" "p.(Gly3907Val)" "" "0000523324" "00000038" "50" "11951" "0" "11951" "0" "c.11951C>T" "r.(?)" "p.(Ala3984Val)" "" "0000609301" "00000038" "30" "1255" "10" "1255" "10" "c.1255+10T>C" "r.(=)" "p.(=)" "" "0000609303" "00000038" "30" "7029" "9" "7029" "9" "c.7029+9A>C" "r.(=)" "p.(=)" "" "0000621421" "00000038" "30" "5725" "0" "5725" "0" "c.5725G>A" "r.(?)" "p.(Val1909Ile)" "" "0000621422" "00000038" "30" "9317" "-4" "9317" "-4" "c.9317-4G>A" "r.spl?" "p.?" "" "0000651520" "00000038" "50" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Arg173Gln)" "" "0000651521" "00000038" "30" "3068" "0" "3068" "0" "c.3068G>A" "r.(?)" "p.(Gly1023Glu)" "" "0000651522" "00000038" "30" "3124" "0" "3124" "0" "c.3124G>A" "r.(?)" "p.(Ala1042Thr)" "" "0000651523" "00000038" "50" "4579" "0" "4579" "0" "c.4579C>T" "r.(?)" "p.(Arg1527Trp)" "" "0000651524" "00000038" "30" "8417" "0" "8417" "0" "c.8417C>T" "r.(?)" "p.(Thr2806Met)" "" "0000651525" "00000038" "50" "9806" "0" "9806" "0" "c.9806G>A" "r.(?)" "p.(Arg3269Gln)" "" "0000653335" "00000038" "90" "3365" "0" "3365" "0" "c.3365dup" "r.(?)" "p.(Asp1122Glufs*13)" "" "0000655195" "00000038" "30" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Pro214Leu)" "" "0000655196" "00000038" "30" "1960" "6" "1960" "6" "c.1960+6G>A" "r.(=)" "p.(=)" "" "0000655197" "00000038" "30" "3065" "0" "3065" "0" "c.3065A>C" "r.(?)" "p.(Lys1022Thr)" "" "0000655198" "00000038" "30" "6473" "0" "6473" "0" "c.6473A>C" "r.(?)" "p.(Glu2158Ala)" "" "0000655199" "00000038" "30" "6939" "0" "6939" "0" "c.6939C>T" "r.(?)" "p.(Pro2313=)" "" "0000655200" "00000038" "30" "8883" "0" "8883" "0" "c.8883C>T" "r.(?)" "p.(Ser2961=)" "" "0000655201" "00000038" "50" "9827" "0" "9827" "0" "c.9827T>C" "r.(?)" "p.(Val3276Ala)" "" "0000655202" "00000038" "30" "11717" "0" "11717" "0" "c.11717T>C" "r.(?)" "p.(Ile3906Thr)" "" "0000655203" "00000038" "50" "11900" "0" "11900" "0" "c.11900A>G" "r.(?)" "p.(Asn3967Ser)" "" "0000677313" "00000038" "30" "2061" "0" "2061" "0" "c.2061C>T" "r.(?)" "p.(Asp687=)" "" "0000677314" "00000038" "30" "3649" "-6" "3649" "-6" "c.3649-6C>T" "r.(=)" "p.(=)" "" "0000677315" "00000038" "30" "5374" "0" "5374" "0" "c.5374G>A" "r.(?)" "p.(Ala1792Thr)" "" "0000677316" "00000038" "30" "7344" "0" "7344" "0" "c.7344C>T" "r.(?)" "p.(Leu2448=)" "" "0000677317" "00000038" "50" "7423" "0" "7423" "0" "c.7423G>A" "r.(?)" "p.(Glu2475Lys)" "" "0000677318" "00000038" "50" "7622" "0" "7622" "0" "c.7622A>G" "r.(?)" "p.(Asn2541Ser)" "" "0000677319" "00000038" "30" "7622" "0" "7622" "0" "c.7622A>G" "r.(?)" "p.(Asn2541Ser)" "" "0000677320" "00000038" "50" "8725" "0" "8725" "0" "c.8725A>T" "r.(?)" "p.(Ile2909Phe)" "" "0000677321" "00000038" "30" "11227" "0" "11227" "0" "c.11227A>G" "r.(?)" "p.(Ile3743Val)" "" "0000689346" "00000038" "30" "3010" "14" "3010" "29" "c.3010+14_3010+29del" "r.(=)" "p.(=)" "" "0000689347" "00000038" "30" "4308" "10" "4308" "10" "c.4308+10G>T" "r.(=)" "p.(=)" "" "0000689348" "00000038" "30" "4679" "-9" "4679" "-9" "c.4679-9C>T" "r.(=)" "p.(=)" "" "0000689349" "00000038" "50" "5029" "0" "5029" "0" "c.5029T>C" "r.(?)" "p.(Ser1677Pro)" "" "0000689350" "00000038" "30" "6584" "0" "6584" "0" "c.6584A>G" "r.(?)" "p.(Glu2195Gly)" "" "0000689351" "00000038" "50" "11038" "0" "11038" "0" "c.11038A>G" "r.(?)" "p.(Asn3680Asp)" "" "0000701838" "00000038" "50" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Arg367Cys)" "" "0000703899" "00000038" "70" "10753" "0" "10753" "0" "c.10753G>A" "r.(?)" "p.(Ala3585Thr)" "" "0000719994" "00000038" "30" "108" "10" "108" "10" "c.108+10T>G" "r.(=)" "p.(=)" "" "0000719995" "00000038" "30" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Arg176Gln)" "" "0000719996" "00000038" "50" "653" "0" "653" "0" "c.653C>G" "r.(?)" "p.(Ala218Gly)" "" "0000719997" "00000038" "50" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Glu296Lys)" "" "0000719998" "00000038" "70" "1724" "0" "1724" "0" "c.1724G>A" "r.(?)" "p.(Cys575Tyr)" "" "0000719999" "00000038" "30" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Glu694Lys)" "" "0000720000" "00000038" "50" "2266" "0" "2266" "0" "c.2266G>C" "r.(?)" "p.(Gly756Arg)" "" "0000720001" "00000038" "30" "2956" "0" "2956" "0" "c.2956G>A" "r.(?)" "p.(Ala986Thr)" "" "0000720002" "00000038" "50" "3563" "5" "3563" "5" "c.3563+5C>T" "r.spl?" "p.?" "" "0000720003" "00000038" "30" "4095" "0" "4095" "0" "c.4095C>T" "r.(?)" "p.(Ile1365=)" "" "0000720004" "00000038" "30" "4671" "0" "4671" "0" "c.4671G>A" "r.(?)" "p.(Ser1557=)" "" "0000720005" "00000038" "30" "4959" "0" "4959" "0" "c.4959G>A" "r.(?)" "p.(Pro1653=)" "" "0000720006" "00000038" "90" "5112" "0" "5113" "0" "c.5112_5113del" "r.(?)" "p.(Leu1705Valfs*21)" "" "0000720007" "00000038" "30" "5865" "0" "5865" "0" "c.5865C>T" "r.(?)" "p.(Asn1955=)" "" "0000720008" "00000038" "50" "6184" "0" "6184" "0" "c.6184G>A" "r.(?)" "p.(Val2062Met)" "" "0000720009" "00000038" "50" "6932" "0" "6932" "0" "c.6932C>T" "r.(?)" "p.(Ser2311Leu)" "" "0000720010" "00000038" "70" "6963" "0" "6964" "0" "c.6963_6964dup" "r.(?)" "p.(Val2322Glyfs*6)" "" "0000720011" "00000038" "30" "7286" "0" "7286" "0" "c.7286G>A" "r.(?)" "p.(Arg2429Gln)" "" "0000720012" "00000038" "90" "8353" "0" "8353" "0" "c.8353del" "r.(?)" "p.(Val2785Trpfs*33)" "" "0000720013" "00000038" "50" "8846" "0" "8846" "0" "c.8846A>T" "r.(?)" "p.(Tyr2949Phe)" "" "0000720014" "00000038" "50" "9658" "0" "9658" "0" "c.9658G>A" "r.(?)" "p.(Gly3220Ser)" "" "0000720015" "00000038" "50" "9853" "0" "9853" "0" "c.9853C>T" "r.(?)" "p.(His3285Tyr)" "" "0000720016" "00000038" "30" "10860" "0" "10860" "0" "c.10860G>A" "r.(?)" "p.(Gln3620=)" "" "0000720017" "00000038" "30" "11306" "0" "11306" "0" "c.11306A>G" "r.(?)" "p.(Asn3769Ser)" "" "0000720018" "00000038" "30" "11820" "0" "11820" "0" "c.11820G>A" "r.(?)" "p.(Glu3940=)" "" "0000786664" "00000038" "50" "5924" "0" "5924" "0" "c.5924T>C" "r.(?)" "p.(Val1975Ala)" "" "0000801712" "00000038" "30" "76" "19" "76" "20" "c.76+19_76+20insCGTG" "r.(=)" "p.(=)" "" "0000801713" "00000038" "30" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Arg50His)" "" "0000801714" "00000038" "30" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Glu296Lys)" "" "0000801715" "00000038" "50" "2027" "0" "2027" "0" "c.2027C>T" "r.(?)" "p.(Pro676Leu)" "" "0000801716" "00000038" "50" "3518" "0" "3518" "0" "c.3518T>G" "r.(?)" "p.(Val1173Gly)" "" "0000801717" "00000038" "30" "4095" "0" "4095" "0" "c.4095C>T" "r.(?)" "p.(Ile1365=)" "" "0000801718" "00000038" "30" "4290" "0" "4290" "0" "c.4290C>T" "r.(?)" "p.(Ser1430=)" "" "0000801719" "00000038" "30" "4334" "0" "4334" "0" "c.4334C>T" "r.(?)" "p.(Thr1445Ile)" "" "0000801720" "00000038" "90" "5134" "0" "5134" "0" "c.5134C>T" "r.(?)" "p.(Arg1712*)" "" "0000801721" "00000038" "50" "5205" "0" "5205" "0" "c.5205C>A" "r.(?)" "p.(His1735Gln)" "" "0000801722" "00000038" "30" "6927" "0" "6927" "0" "c.6927T>C" "r.(?)" "p.(Asp2309=)" "" "0000801723" "00000038" "50" "7073" "0" "7073" "0" "c.7073G>T" "r.(?)" "p.(Gly2358Val)" "" "0000801724" "00000038" "50" "7096" "0" "7096" "0" "c.7096G>A" "r.(?)" "p.(Gly2366Arg)" "" "0000801725" "00000038" "50" "7223" "0" "7223" "0" "c.7223A>G" "r.(?)" "p.(Asn2408Ser)" "" "0000801726" "00000038" "30" "7722" "0" "7722" "0" "c.7722G>A" "r.(?)" "p.(Thr2574=)" "" "0000801727" "00000038" "30" "7996" "0" "7996" "0" "c.7996A>G" "r.(?)" "p.(Ile2666Val)" "" "0000801728" "00000038" "50" "8205" "0" "8205" "0" "c.8205G>T" "r.(?)" "p.(Gly2735=)" "" "0000801729" "00000038" "30" "8215" "0" "8215" "0" "c.8215G>A" "r.(?)" "p.(Ala2739Thr)" "" "0000801730" "00000038" "30" "9183" "0" "9183" "0" "c.9183G>A" "r.(?)" "p.(Ala3061=)" "" "0000801731" "00000038" "50" "9827" "0" "9827" "0" "c.9827T>C" "r.(?)" "p.(Val3276Ala)" "" "0000801732" "00000038" "30" "10077" "0" "10077" "0" "c.10077G>A" "r.(?)" "p.(Pro3359=)" "" "0000801733" "00000038" "50" "10231" "0" "10231" "0" "c.10231G>A" "r.(?)" "p.(Asp3411Asn)" "" "0000801734" "00000038" "30" "11244" "0" "11244" "0" "c.11244C>G" "r.(?)" "p.(Pro3748=)" "" "0000801735" "00000038" "30" "11306" "0" "11306" "0" "c.11306A>G" "r.(?)" "p.(Asn3769Ser)" "" "0000801736" "00000038" "30" "11681" "0" "11681" "0" "c.11681C>T" "r.(?)" "p.(Ala3894Val)" "" "0000801737" "00000038" "30" "11871" "0" "11871" "0" "c.11871G>A" "r.(?)" "p.(Arg3957=)" "" "0000850660" "00000038" "10" "76" "32" "76" "35" "c.76+32_76+35dup" "r.(=)" "p.(=)" "" "0000850661" "00000038" "10" "76" "34" "76" "35" "c.76+34_76+35dup" "r.(=)" "p.(=)" "" "0000850662" "00000038" "30" "990" "0" "990" "0" "c.990A>G" "r.(?)" "p.(Glu330=)" "" "0000850663" "00000038" "10" "1416" "0" "1416" "0" "c.1416C>T" "r.(?)" "p.(Cys472=)" "" "0000850664" "00000038" "10" "1769" "0" "1769" "0" "c.1769T>C" "r.(?)" "p.(Met590Thr)" "" "0000850665" "00000038" "50" "2367" "0" "2367" "0" "c.2367C>A" "r.(?)" "p.(Asn789Lys)" "" "0000850666" "00000038" "30" "3771" "0" "3771" "0" "c.3771C>A" "r.(?)" "p.(Ile1257=)" "" "0000850667" "00000038" "30" "4596" "0" "4596" "0" "c.4596G>A" "r.(?)" "p.(Glu1532=)" "" "0000850668" "00000038" "10" "4877" "0" "4877" "0" "c.4877C>T" "r.(?)" "p.(Ala1626Val)" "" "0000850669" "00000038" "10" "4940" "0" "4940" "0" "c.4940C>T" "r.(?)" "p.(Thr1647Ile)" "" "0000850670" "00000038" "10" "5218" "-20" "5218" "-20" "c.5218-20C>A" "r.(=)" "p.(=)" "" "0000850671" "00000038" "50" "5671" "0" "5671" "0" "c.5671C>T" "r.(?)" "p.(Arg1891Cys)" "" "0000850672" "00000038" "30" "7773" "0" "7773" "0" "c.7773C>T" "r.(?)" "p.(Thr2591=)" "" "0000850673" "00000038" "30" "9384" "0" "9384" "0" "c.9384C>T" "r.(?)" "p.(Phe3128=)" "" "0000850674" "00000038" "10" "9759" "0" "9759" "0" "c.9759A>G" "r.(?)" "p.(Pro3253=)" "" "0000850675" "00000038" "10" "10230" "0" "10230" "0" "c.10230C>T" "r.(?)" "p.(Tyr3410=)" "" "0000850676" "00000038" "50" "11456" "0" "11456" "0" "c.11456G>T" "r.(?)" "p.(Gly3819Val)" "" "0000850677" "00000038" "10" "11720" "0" "11720" "0" "c.11720G>T" "r.(?)" "p.(Gly3907Val)" "" "0000859573" "00000038" "50" "491" "0" "491" "0" "c.491A>G" "r.(?)" "p.(His164Arg)" "" "0000859574" "00000038" "30" "603" "17" "603" "17" "c.603+17C>T" "r.(=)" "p.(=)" "" "0000859575" "00000038" "10" "3976" "-20" "3976" "-20" "c.3976-20G>A" "r.(=)" "p.(=)" "" "0000859576" "00000038" "50" "4630" "0" "4630" "0" "c.4630C>A" "r.(?)" "p.(Pro1544Thr)" "" "0000859577" "00000038" "50" "7085" "0" "7085" "0" "c.7085G>A" "r.(?)" "p.(Arg2362Gln)" "" "0000859578" "00000038" "30" "7280" "0" "7280" "0" "c.7280C>A" "r.(?)" "p.(Pro2427Gln)" "" "0000859579" "00000038" "30" "8397" "0" "8397" "0" "c.8397G>A" "r.(?)" "p.(Ser2799=)" "" "0000859580" "00000038" "30" "8418" "0" "8418" "0" "c.8418G>A" "r.(?)" "p.(Thr2806=)" "" "0000859581" "00000038" "50" "8604" "5" "8604" "5" "c.8604+5G>A" "r.spl?" "p.?" "" "0000859582" "00000038" "50" "9016" "0" "9016" "0" "c.9016T>C" "r.(?)" "p.(Phe3006Leu)" "" "0000859583" "00000038" "30" "10894" "0" "10894" "0" "c.10894C>T" "r.(?)" "p.(Pro3632Ser)" "" "0000859584" "00000038" "30" "11683" "0" "11683" "0" "c.11683G>A" "r.(?)" "p.(Val3895Ile)" "" "0000859585" "00000038" "30" "11847" "0" "11847" "0" "c.11847T>C" "r.(?)" "p.(Asn3949=)" "" "0000877233" "00000038" "50" "5915" "0" "5915" "0" "c.5915C>T" "r.(?)" "p.(Ser1972Leu)" "" "0000886374" "00000038" "30" "237" "0" "237" "0" "c.237T>C" "r.(?)" "p.(Ala79=)" "" "0000886375" "00000038" "30" "1286" "0" "1286" "0" "c.1286C>A" "r.(?)" "p.(Ser429Tyr)" "" "0000886376" "00000038" "30" "1534" "19" "1534" "19" "c.1534+19A>G" "r.(=)" "p.(=)" "" "0000886377" "00000038" "30" "1590" "0" "1590" "0" "c.1590C>T" "r.(?)" "p.(Ala530=)" "" "0000886378" "00000038" "30" "1710" "0" "1710" "0" "c.1710C>T" "r.(?)" "p.(Pro570=)" "" "0000886379" "00000038" "30" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Gly595Ser)" "" "0000886380" "00000038" "30" "2279" "-13" "2279" "-13" "c.2279-13G>A" "r.(=)" "p.(=)" "" "0000886381" "00000038" "30" "2647" "0" "2647" "0" "c.2647G>A" "r.(?)" "p.(Val883Met)" "" "0000886382" "00000038" "30" "3409" "0" "3409" "0" "c.3409G>A" "r.(?)" "p.(Asp1137Asn)" "" "0000886383" "00000038" "30" "4364" "0" "4364" "0" "c.4364C>T" "r.(?)" "p.(Ala1455Val)" "" "0000886384" "00000038" "10" "5208" "0" "5208" "0" "c.5208T>C" "r.(?)" "p.(Leu1736=)" "" "0000886385" "00000038" "30" "5374" "0" "5374" "0" "c.5374G>A" "r.(?)" "p.(Ala1792Thr)" "" "0000886386" "00000038" "30" "5865" "0" "5865" "0" "c.5865C>T" "r.(?)" "p.(Asn1955=)" "" "0000886387" "00000038" "50" "5939" "0" "5941" "0" "c.5939_5941del" "r.(?)" "p.(Ser1980del)" "" "0000886388" "00000038" "30" "6622" "0" "6622" "0" "c.6622C>T" "r.(?)" "p.(Leu2208=)" "" "0000886389" "00000038" "30" "6763" "12" "6763" "12" "c.6763+12A>G" "r.(=)" "p.(=)" "" "0000886390" "00000038" "30" "7033" "0" "7033" "0" "c.7033G>A" "r.(?)" "p.(Glu2345Lys)" "" "0000886391" "00000038" "30" "7652" "0" "7652" "0" "c.7652A>G" "r.(?)" "p.(Gln2551Arg)" "" "0000886392" "00000038" "30" "8940" "0" "8940" "0" "c.8940A>G" "r.(?)" "p.(Thr2980=)" "" "0000886393" "00000038" "30" "8959" "-11" "8959" "-11" "c.8959-11A>G" "r.(=)" "p.(=)" "" "0000886394" "00000038" "30" "10002" "0" "10002" "0" "c.10002G>A" "r.(?)" "p.(Glu3334=)" "" "0000886395" "00000038" "30" "10160" "0" "10160" "0" "c.10160T>C" "r.(?)" "p.(Leu3387Pro)" "" "0000886396" "00000038" "30" "10540" "15" "10540" "15" "c.10540+15G>A" "r.(=)" "p.(=)" "" "0000886397" "00000038" "90" "10597" "0" "10597" "0" "c.10597C>T" "r.(?)" "p.(Arg3533*)" "" "0000886398" "00000038" "50" "11264" "0" "11264" "0" "c.11264C>T" "r.(?)" "p.(Pro3755Leu)" "" "0000886399" "00000038" "30" "11871" "0" "11871" "0" "c.11871G>A" "r.(?)" "p.(Arg3957=)" "" "0000886400" "00000038" "30" "11951" "0" "11951" "0" "c.11951C>T" "r.(?)" "p.(Ala3984Val)" "" "0000886401" "00000038" "30" "12039" "0" "12039" "0" "c.12039A>G" "r.(?)" "p.(*4013=)" "" "0000912139" "00000038" "30" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Ser545=)" "" "0000912140" "00000038" "30" "1820" "-11" "1820" "-11" "c.1820-11C>G" "r.(=)" "p.(=)" "" "0000912141" "00000038" "30" "4334" "0" "4334" "0" "c.4334C>T" "r.(?)" "p.(Thr1445Ile)" "" "0000912142" "00000038" "30" "9317" "-4" "9317" "-4" "c.9317-4G>A" "r.spl?" "p.?" "" "0000912143" "00000038" "30" "9384" "0" "9384" "0" "c.9384C>T" "r.(?)" "p.(Phe3128=)" "" "0000912144" "00000038" "30" "10598" "0" "10598" "0" "c.10598G>A" "r.(?)" "p.(Arg3533Gln)" "" "0000912145" "00000038" "10" "11227" "0" "11227" "0" "c.11227A>G" "r.(?)" "p.(Ile3743Val)" "" "0000912146" "00000038" "30" "11555" "0" "11555" "0" "c.11555G>A" "r.(?)" "p.(Arg3852Gln)" "" "0000912147" "00000038" "30" "11695" "0" "11695" "0" "c.11695C>T" "r.(?)" "p.(Leu3899=)" "" "0000924156" "00000038" "30" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Arg269Gln)" "" "0000924157" "00000038" "30" "2861" "0" "2861" "0" "c.2861C>T" "r.(?)" "p.(Thr954Met)" "" "0000924158" "00000038" "30" "3010" "9" "3010" "9" "c.3010+9G>A" "r.(=)" "p.(=)" "" "0000924159" "00000038" "30" "4308" "10" "4308" "10" "c.4308+10G>T" "r.(=)" "p.(=)" "" "0000924160" "00000038" "30" "5205" "0" "5205" "0" "c.5205C>T" "r.(?)" "p.(His1735=)" "" "0000928937" "00000038" "90" "4059" "0" "4059" "0" "c.4059dup" "r.(?)" "p.(Gln1354Thrfs*10)" "" "0000928938" "00000038" "30" "4969" "19" "4969" "19" "c.4969+19A>T" "r.(=)" "p.(=)" "" "0000928939" "00000038" "30" "6301" "0" "6301" "0" "c.6301C>T" "r.(?)" "p.(His2101Tyr)" "" "0000928940" "00000038" "90" "6888" "5" "6888" "5" "c.6888+5G>A" "r.spl?" "p.?" "" "0000928941" "00000038" "50" "6927" "0" "6927" "0" "c.6927T>A" "r.(?)" "p.(Asp2309Glu)" "" "0000928942" "00000038" "50" "7015" "0" "7015" "0" "c.7015G>C" "r.(?)" "p.(Asp2339His)" "" "0000948368" "00000038" "90" "2817" "0" "2817" "0" "c.2817C>G" "r.(?)" "p.(Tyr939*)" "" "0000948369" "00000038" "30" "6584" "0" "6584" "0" "c.6584A>G" "r.(?)" "p.(Glu2195Gly)" "" "0000948370" "00000038" "30" "9553" "0" "9553" "0" "c.9553G>A" "r.(?)" "p.(Gly3185Arg)" "" "0000948371" "00000038" "30" "11127" "0" "11127" "0" "c.11127A>G" "r.(?)" "p.(=)" "" "0000963237" "00000038" "30" "1995" "0" "1995" "0" "c.1995C>T" "r.(?)" "p.(=)" "" "0000963240" "00000038" "30" "3951" "0" "3951" "0" "c.3951G>A" "r.(?)" "p.(=)" "" "0000963244" "00000038" "30" "5474" "0" "5474" "0" "c.5474T>G" "r.(?)" "p.(Met1825Arg)" "" "0000976367" "00000038" "50" "311" "0" "311" "0" "c.311A>G" "r.(?)" "p.(His104Arg)" "" "0000976368" "00000038" "50" "1235" "0" "1240" "0" "c.1235_1240dup" "r.(?)" "p.(Cys413_Pro414insArgCys)" "" "0000976369" "00000038" "50" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Cys711Tyr)" "" "0000976370" "00000038" "50" "2575" "7" "2575" "10" "c.2575+7_2575+10del" "r.(=)" "p.(=)" "" "0000976371" "00000038" "50" "2935" "0" "2935" "0" "c.2935G>A" "r.(?)" "p.(Gly979Ser)" "" "0000976372" "00000038" "50" "3006" "0" "3010" "7" "c.3006_3010+7del" "r.spl?" "p.?" "" "0000976373" "00000038" "50" "3058" "0" "3058" "0" "c.3058C>T" "r.(?)" "p.(Arg1020Cys)" "" "0000976374" "00000038" "50" "3080" "0" "3080" "0" "c.3080T>C" "r.(?)" "p.(Leu1027Pro)" "" "0000976375" "00000038" "90" "4260" "0" "4260" "0" "c.4260G>A" "r.(?)" "p.(Trp1420*)" "" "0000976376" "00000038" "50" "4540" "1" "4540" "1" "c.4540+1G>A" "r.spl?" "p.?" "" "0000976377" "00000038" "50" "6542" "0" "6542" "0" "c.6542G>A" "r.(?)" "p.(Gly2181Asp)" "" "0000976378" "00000038" "50" "7025" "0" "7025" "0" "c.7025C>T" "r.(?)" "p.(Thr2342Ile)" "" "0000976379" "00000038" "50" "7030" "-3" "7030" "-3" "c.7030-3C>G" "r.spl?" "p.?" "" "0000976380" "00000038" "50" "8440" "0" "8440" "0" "c.8440G>A" "r.(?)" "p.(Ala2814Thr)" "" "0000976381" "00000038" "50" "9104" "0" "9104" "0" "c.9104A>G" "r.(?)" "p.(Asn3035Ser)" "" "0000976382" "00000038" "50" "9959" "0" "9959" "0" "c.9959C>T" "r.(?)" "p.(Ser3320Phe)" "" "0000976383" "00000038" "30" "11446" "-8" "11446" "-8" "c.11446-8C>T" "r.(=)" "p.(=)" "" "0000976384" "00000038" "30" "11815" "0" "11815" "0" "c.11815G>A" "r.(?)" "p.(Ala3939Thr)" "" "0000994441" "00000038" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Ter)" "" "0000994442" "00000038" "30" "3191" "0" "3191" "0" "c.3191G>T" "r.(?)" "p.(Arg1064Leu)" "" "0000994443" "00000038" "50" "4675" "0" "4675" "0" "c.4675G>A" "r.(?)" "p.(Ala1559Thr)" "" "0000994444" "00000038" "30" "4969" "4" "4969" "7" "c.4969+4_4969+7dup" "r.spl?" "p.?" "" "0000994445" "00000038" "50" "7744" "0" "7744" "0" "c.7744A>C" "r.(?)" "p.(Asn2582His)" "" "0000994446" "00000038" "90" "8698" "0" "8698" "0" "c.8698G>T" "r.(?)" "p.(Glu2900*)" "" "0000994447" "00000038" "90" "10681" "0" "10688" "0" "c.10681_10688del" "r.(?)" "p.(Glu3561IlefsTer13)" "" "0001013986" "00000038" "30" "76" "34" "76" "35" "c.76+34_76+35del" "r.(=)" "p.(=)" "" "0001013987" "00000038" "30" "8486" "0" "8486" "0" "c.8486C>A" "r.(?)" "p.(Ser2829Tyr)" "" "0001024944" "00000038" "30" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Arg640Cys)" "" "0001024945" "00000038" "50" "4648" "0" "4648" "0" "c.4648C>T" "r.(?)" "p.(Leu1550Phe)" "" "0001024946" "00000038" "50" "7039" "0" "7039" "0" "c.7039G>T" "r.(?)" "p.(Val2347Phe)" "" "0001027560" "00000038" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Ter)" "" "0001034678" "00000038" "30" "108" "10" "108" "10" "c.108+10T>G" "r.(=)" "p.(=)" "" "0001034679" "00000038" "30" "216" "4" "216" "4" "c.216+4C>T" "r.spl?" "p.?" "" "0001034680" "00000038" "50" "875" "0" "875" "0" "c.875G>A" "r.(?)" "p.(Arg292Gln)" "" "0001034681" "00000038" "70" "1724" "0" "1724" "0" "c.1724G>A" "r.(?)" "p.(Cys575Tyr)" "" "0001034682" "00000038" "50" "2891" "0" "2891" "0" "c.2891C>T" "r.(?)" "p.(Ala964Val)" "" "0001034683" "00000038" "50" "4625" "0" "4625" "0" "c.4625G>A" "r.(?)" "p.(Arg1542His)" "" "0001034684" "00000038" "50" "7055" "0" "7055" "0" "c.7055T>C" "r.(?)" "p.(Val2352Ala)" "" "0001051756" "00000038" "50" "788" "0" "788" "0" "c.788A>T" "r.(?)" "p.(Lys263Met)" "" "0001051757" "00000038" "50" "2137" "0" "2137" "0" "c.2137G>C" "r.(?)" "p.(Ala713Pro)" "" "0001051758" "00000038" "50" "2345" "0" "2345" "0" "c.2345A>T" "r.(?)" "p.(His782Leu)" "" "0001051759" "00000038" "50" "4678" "5" "4678" "5" "c.4678+5T>C" "r.spl?" "p.?" "" "0001051760" "00000038" "50" "8468" "0" "8468" "0" "c.8468G>A" "r.(?)" "p.(Arg2823His)" "" "0001058710" "00000038" "90" "2570" "0" "2570" "0" "c.2570G>T" "r.(?)" "p.(Cys857Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000000087" "0000001008" "0000095515" "0000154084" "0000095515" "0000154087" "0000184027" "0000407993" "0000294831" "0000651520" "0000294832" "0000651521" "0000294833" "0000651522" "0000294834" "0000651523" "0000294835" "0000651524" "0000294836" "0000651525" "0000296646" "0000653335" "0000319174" "0000701838" "0000321106" "0000703899" "0000375323" "0000786664" "0000417529" "0000877233" "0000463940" "0001027560" "0000470588" "0001058710"