### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FREM2) # 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}}" "FREM2" "FRAS1 related extracellular matrix protein 2" "13" "q13.3" "unknown" "NG_008125.2" "UD_132118380794" "" "https://www.LOVD.nl/FREM2" "" "1" "25396" "341640" "608945" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/FREM2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-11 15:01:37" "00000" "2025-07-08 13:22:38" ## 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}}" "00008132" "FREM2" "FRAS1 related extracellular matrix protein 2" "001" "NM_207361.4" "" "NP_997244.3" "" "" "" "-309" "15854" "9510" "39261173" "39461268" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "05317" "CRYPTOP" "cryptophthalmos, uni-/bi-lateral, isolated" "AR" "123570" "" "" "" "00006" "2017-08-11 14:59:05" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06218" "FRASRS2" "Fraser syndrome 2" "AR" "617666" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "FREM2" "00139" "FREM2" "00605" "FREM2" "06218" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00050471" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00111704" "" "" "" "2" "" "02189" "" "" "F" "" "China" "" "0" "" "" "" "" "00290928" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290930" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290931" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290932" "" "" "" "70" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290933" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303300" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00304409" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00050471" "00198" "00111704" "05317" "00290928" "00198" "00290930" "00198" "00290931" "00198" "00290932" "00198" "00290933" "00198" "00303300" "05611" "00304409" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00605, 05317, 05611, 06218 ## Count = 3 "{{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}}" "0000037083" "00198" "00050471" "00006" "Isolated (sporadic)" "" "congenital diaphragmatic hernia, pulmonary hypoplasia, malformation of the heart and great vessels, gastroesophageal reflux, patent ductus arteriosus, microcephaly, global developmental delay, downslanted palpebral fissures, wide nasal bridge, cafe-au-lait spot, inverted nipples, abnormality of finger" "" "" "" "" "" "" "" "" "" "" "" "0000092377" "05317" "00111704" "02189" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230376" "05611" "00303300" "00006" "Isolated (sporadic)" "13y" "height 157.5 cm (SD −0.41), weight 44.4kg (SD −0.61), OFC 51.8 cm (SD −1.9); mild developmental delay/intellectual disability; 14m-walk; 14m-first words, >2y-speech 2-word combinations; possible regression in speech; 12y-myoclonus seizures; MRI normal; no muscular hypotonia; autism; ventricle septum defect (self-resolved); unilateral hydronephrosis; no urogenital anomalies; no gastro-intestinal anomalies; lordosis, hallux valgus, toe syndactyly II/III; premature adrenarche" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050416" "00050471" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000112162" "00111704" "1" "02189" "02189" "2017-08-04 13:10:06" "" "" "SEQ-NG" "DNA" "" "" "0000292096" "00290928" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292098" "00290930" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292099" "00290931" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292100" "00290932" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292101" "00290933" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304425" "00303300" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000305538" "00304409" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000050416" "FREM2" "0000112162" "FREM2" "0000304425" "SCAF4" ## 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 = 303 "{{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}}" "0000079396" "3" "90" "13" "39358866" "39358868" "del" "0" "00006" "FREM2_000001" "g.39358866_39358868del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "in-frame deletion" "Germline" "" "" "0" "" "" "g.38784729_38784731del" "" "pathogenic" "" "0000179316" "3" "90" "13" "39424294" "39424294" "subst" "4.4823E-5" "02189" "FREM2_000003" "g.39424294C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38850157C>T" "" "pathogenic" "" "0000181177" "21" "70" "13" "39261496" "39261496" "del" "0" "02189" "FREM2_000002" "g.39261496del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38687359del" "" "likely pathogenic" "" "0000251034" "0" "10" "13" "39433606" "39433606" "subst" "0.372706" "02326" "FREM2_000094" "g.39433606A>G" "" "" "" "FREM2(NM_207361.6):c.7398A>G (p.T2466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38859469A>G" "" "benign" "" "0000251058" "0" "10" "13" "39266619" "39266619" "subst" "2.03978E-5" "02326" "FREM2_000044" "g.39266619A>G" "" "" "" "FREM2(NM_207361.5):c.5138A>G (p.D1713G), FREM2(NM_207361.6):c.5138A>G (p.D1713G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38692482A>G" "" "benign" "" "0000251534" "0" "10" "13" "39266729" "39266729" "subst" "0" "02326" "FREM2_000048" "g.39266729A>T" "" "" "" "FREM2(NM_207361.6):c.5173+75A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38692592A>T" "" "benign" "" "0000251535" "0" "10" "13" "39357188" "39357188" "subst" "0.00365385" "02326" "FREM2_000058" "g.39357188A>G" "" "" "" "FREM2(NM_207361.6):c.5642-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38783051A>G" "" "benign" "" "0000251536" "0" "10" "13" "39357429" "39357429" "subst" "0" "02326" "FREM2_000061" "g.39357429A>C" "" "" "" "FREM2(NM_207361.6):c.5767+97A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38783292A>C" "" "benign" "" "0000251537" "0" "10" "13" "39420561" "39420561" "subst" "0" "02326" "FREM2_000065" "g.39420561A>G" "" "" "" "FREM2(NM_207361.6):c.6020-149A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38846424A>G" "" "benign" "" "0000251538" "0" "10" "13" "39420971" "39420971" "subst" "0" "02326" "FREM2_000135" "g.39420971A>G" "" "" "" "FREM2(NM_207361.6):c.6169+112A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38846834A>G" "" "benign" "" "0000251539" "0" "10" "13" "39426038" "39426038" "subst" "0.0154519" "02326" "FREM2_000083" "g.39426038A>G" "" "" "" "FREM2(NM_207361.6):c.6925+33A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38851901A>G" "" "benign" "" "0000251540" "0" "10" "13" "39433789" "39433789" "subst" "0" "02326" "FREM2_000096" "g.39433789A>G" "" "" "" "FREM2(NM_207361.6):c.7519+62A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38859652A>G" "" "benign" "" "0000251541" "0" "10" "13" "39433813" "39433813" "subst" "0" "02326" "FREM2_000097" "g.39433813A>G" "" "" "" "FREM2(NM_207361.6):c.7519+86A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38859676A>G" "" "benign" "" "0000251542" "0" "10" "13" "39448455" "39448455" "subst" "0" "02326" "FREM2_000113" "g.39448455A>G" "" "" "" "FREM2(NM_207361.6):c.8177-164A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38874318A>G" "" "benign" "" "0000251543" "0" "10" "13" "39450139" "39450139" "subst" "0.179986" "02326" "FREM2_000115" "g.39450139A>C" "" "" "" "FREM2(NM_207361.6):c.8282-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38876002A>C" "" "benign" "" "0000251544" "0" "10" "13" "39450584" "39450584" "subst" "0" "02326" "FREM2_000118" "g.39450584A>T" "" "" "" "FREM2(NM_207361.6):c.8544+65A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38876447A>T" "" "benign" "" "0000251545" "0" "10" "13" "39451557" "39451557" "subst" "0" "02326" "FREM2_000119" "g.39451557A>T" "" "" "" "FREM2(NM_207361.6):c.8671+177A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38877420A>T" "" "benign" "" "0000251546" "0" "10" "13" "39452543" "39452543" "subst" "0" "02326" "FREM2_000137" "g.39452543A>G" "" "" "" "FREM2(NM_207361.6):c.8859+85A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38878406A>G" "" "benign" "" "0000251547" "0" "10" "13" "39452545" "39452545" "subst" "0" "02326" "FREM2_000122" "g.39452545A>G" "" "" "" "FREM2(NM_207361.6):c.8859+87A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38878408A>G" "" "benign" "" "0000251548" "0" "10" "13" "39452554" "39452554" "subst" "0" "02326" "FREM2_000138" "g.39452554A>C" "" "" "" "FREM2(NM_207361.6):c.8859+96A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38878417A>C" "" "benign" "" "0000251549" "0" "10" "13" "39452557" "39452557" "subst" "0" "02326" "FREM2_000124" "g.39452557A>G" "" "" "" "FREM2(NM_207361.6):c.8859+99A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38878420A>G" "" "benign" "" "0000251550" "0" "10" "13" "39453273" "39453273" "subst" "0" "02326" "FREM2_000127" "g.39453273A>G" "" "" "" "FREM2(NM_207361.6):c.9006+159A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38879136A>G" "" "benign" "" "0000251971" "0" "30" "13" "39264752" "39264752" "subst" "0" "02326" "FREM2_000030" "g.39264752A>G" "" "" "" "FREM2(NM_207361.6):c.3271A>G (p.S1091G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38690615A>G" "" "likely benign" "" "0000252226" "0" "30" "13" "39422507" "39422507" "subst" "0" "02326" "FREM2_000070" "g.39422507A>G" "" "" "" "FREM2(NM_207361.6):c.6170-91A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38848370A>G" "" "likely benign" "" "0000252376" "0" "70" "13" "39424332" "39424332" "subst" "4.07568E-6" "02326" "FREM2_000136" "g.39424332A>C" "" "" "" "FREM2(NM_207361.6):c.6537A>C (p.E2179D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38850195A>C" "" "likely pathogenic" "" "0000252431" "0" "70" "13" "39266135" "39266135" "subst" "0" "02326" "FREM2_000036" "g.39266135A>C" "" "" "" "FREM2(NM_207361.6):c.4654A>C (p.T1552P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38691998A>C" "" "likely pathogenic" "" "0000252678" "0" "50" "13" "39262953" "39262953" "subst" "0" "02326" "FREM2_000009" "g.39262953A>G" "" "" "" "FREM2(NM_207361.6):c.1472A>G (p.H491R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38688816A>G" "" "VUS" "" "0000252758" "0" "50" "13" "39266643" "39266643" "subst" "0" "02326" "FREM2_000045" "g.39266643A>C" "" "" "" "FREM2(NM_207361.6):c.5162A>C (p.Q1721P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38692506A>C" "" "VUS" "" "0000280902" "0" "10" "13" "39263714" "39263714" "subst" "0.999971" "02325" "FREM2_000023" "g.39263714T>C" "" "" "" "FREM2(NM_207361.6):c.2233T>C (p.S745P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689577T>C" "" "benign" "" "0000280903" "0" "10" "13" "39263731" "39263731" "subst" "0.10602" "02325" "FREM2_000025" "g.39263731C>T" "" "" "" "FREM2(NM_207361.6):c.2250C>T (p.D750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689594C>T" "" "benign" "" "0000280904" "0" "10" "13" "39262057" "39262057" "subst" "0.999973" "02325" "FREM2_000007" "g.39262057G>A" "" "" "" "FREM2(NM_207361.6):c.576G>A (p.E192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38687920G>A" "" "benign" "" "0000280905" "0" "10" "13" "39430314" "39430314" "subst" "0.747654" "02325" "FREM2_000084" "g.39430314C>T" "" "" "" "FREM2(NM_207361.6):c.6977C>T (p.T2326I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38856177C>T" "" "benign" "" "0000284355" "0" "10" "13" "39263023" "39263023" "subst" "0.187486" "02326" "FREM2_000011" "g.39263023C>T" "" "" "" "FREM2(NM_207361.6):c.1542C>T (p.A514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38688886C>T" "" "benign" "" "0000284356" "0" "10" "13" "39263422" "39263422" "subst" "0.0260179" "02326" "FREM2_000015" "g.39263422C>T" "" "" "" "FREM2(NM_207361.6):c.1941C>T (p.D647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689285C>T" "" "benign" "" "0000284357" "0" "10" "13" "39263440" "39263440" "subst" "0" "02326" "FREM2_000016" "g.39263440G>T" "" "" "" "FREM2(NM_207361.6):c.1959G>T (p.L653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689303G>T" "" "benign" "" "0000284358" "0" "10" "13" "39263609" "39263609" "subst" "0.00250284" "02326" "FREM2_000019" "g.39263609C>T" "" "" "" "FREM2(NM_207361.4):c.2128C>T (p.(Arg710Cys)), FREM2(NM_207361.5):c.2128C>T (p.R710C), FREM2(NM_207361.6):c.2128C>T (p.R710C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689472C>T" "" "benign" "" "0000284359" "0" "10" "13" "39263646" "39263646" "subst" "0.0199415" "02326" "FREM2_000020" "g.39263646G>A" "" "" "" "FREM2(NM_207361.6):c.2165G>A (p.R722K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689509G>A" "" "benign" "" "0000284360" "0" "90" "13" "39263687" "39263687" "subst" "4.07395E-6" "02326" "FREM2_000022" "g.39263687C>T" "" "" "" "FREM2(NM_207361.5):c.2206C>T (p.R736*), FREM2(NM_207361.6):c.2206C>T (p.(Arg736*), p.R736*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689550C>T" "" "pathogenic" "" "0000284361" "0" "10" "13" "39263714" "39263714" "subst" "0.999971" "02326" "FREM2_000023" "g.39263714T>C" "" "" "" "FREM2(NM_207361.6):c.2233T>C (p.S745P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689577T>C" "" "benign" "" "0000284362" "0" "50" "13" "39263714" "39263714" "subst" "0" "02326" "FREM2_000024" "g.39263714T>G" "" "" "" "FREM2(NM_207361.6):c.2233T>G (p.S745A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689577T>G" "" "VUS" "" "0000284363" "0" "10" "13" "39263731" "39263731" "subst" "0.10602" "02326" "FREM2_000025" "g.39263731C>T" "" "" "" "FREM2(NM_207361.6):c.2250C>T (p.D750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689594C>T" "" "benign" "" "0000284364" "0" "10" "13" "39264083" "39264083" "subst" "0.0199755" "02326" "FREM2_000027" "g.39264083C>G" "" "" "" "FREM2(NM_207361.6):c.2602C>G (p.L868V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689946C>G" "" "benign" "" "0000284365" "0" "90" "13" "39264176" "39264176" "subst" "8.13114E-6" "02326" "FREM2_000028" "g.39264176C>T" "" "" "" "FREM2(NM_207361.6):c.2695C>T (p.R899*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38690039C>T" "" "pathogenic" "" "0000284366" "0" "10" "13" "39264690" "39264690" "subst" "0.340638" "02326" "FREM2_000029" "g.39264690T>C" "" "" "" "FREM2(NM_207361.6):c.3209T>C (p.F1070S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38690553T>C" "" "benign" "" "0000284367" "0" "90" "13" "39265412" "39265412" "subst" "1.62563E-5" "02326" "FREM2_000031" "g.39265412G>T" "" "" "" "FREM2(NM_207361.6):c.3931G>T (p.G1311*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38691275G>T" "" "pathogenic" "" "0000284368" "0" "10" "13" "39265558" "39265558" "subst" "0.0253099" "02326" "FREM2_000032" "g.39265558T>A" "" "" "" "FREM2(NM_207361.6):c.4077T>A (p.G1359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38691421T>A" "" "benign" "" "0000284369" "0" "90" "13" "39265877" "39265877" "subst" "8.12612E-6" "02326" "FREM2_000034" "g.39265877C>T" "" "" "" "FREM2(NM_207361.6):c.4396C>T (p.R1466*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38691740C>T" "" "pathogenic" "" "0000284370" "0" "70" "13" "39266330" "39266330" "subst" "0" "02326" "FREM2_000037" "g.39266330T>C" "" "" "" "FREM2(NM_207361.6):c.4849T>C (p.S1617P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38692193T>C" "" "likely pathogenic" "" "0000284371" "0" "10" "13" "39266484" "39266484" "subst" "0.0783084" "02326" "FREM2_000040" "g.39266484G>A" "" "" "" "FREM2(NM_207361.6):c.5003G>A (p.R1668H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38692347G>A" "" "benign" "" "0000284372" "0" "50" "13" "39266600" "39266600" "subst" "0" "02326" "FREM2_000043" "g.39266600G>A" "" "" "" "FREM2(NM_207361.6):c.5119G>A (p.G1707R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38692463G>A" "" "VUS" "" "0000284373" "0" "50" "13" "39266647" "39266647" "subst" "0" "02326" "FREM2_000046" "g.39266647C>A" "" "" "" "FREM2(NM_207361.6):c.5166C>A (p.F1722L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38692510C>A" "" "VUS" "" "0000284374" "0" "50" "13" "39266655" "39266655" "subst" "0" "02326" "FREM2_000047" "g.39266655G>T" "" "" "" "FREM2(NM_207361.6):c.5173+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38692518G>T" "" "VUS" "" "0000284375" "0" "10" "13" "39266862" "39266862" "subst" "0" "02326" "FREM2_000049" "g.39266862T>C" "" "" "" "FREM2(NM_207361.6):c.5173+208T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38692725T>C" "" "benign" "" "0000284376" "0" "10" "13" "39272078" "39272078" "subst" "0" "02326" "FREM2_000052" "g.39272078C>G" "" "" "" "FREM2(NM_207361.6):c.5263+154C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38697941C>G" "" "benign" "" "0000284377" "0" "90" "13" "39271926" "39271926" "subst" "0" "02326" "FREM2_000051" "g.39271926T>C" "" "" "" "FREM2(NM_207361.6):c.5263+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38697789T>C" "" "pathogenic" "" "0000284378" "0" "50" "13" "39262013" "39262013" "subst" "0" "02326" "FREM2_000006" "g.39262013C>T" "" "" "" "FREM2(NM_207361.6):c.532C>T (p.Q178*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38687876C>T" "" "VUS" "" "0000284379" "0" "10" "13" "39338612" "39338612" "subst" "0.988118" "02326" "FREM2_000053" "g.39338612T>C" "" "" "" "FREM2(NM_207361.6):c.5410+25T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38764475T>C" "" "benign" "" "0000284380" "0" "30" "13" "39343721" "39343721" "subst" "0.00090013" "02326" "FREM2_000054" "g.39343721G>A" "" "" "" "FREM2(NM_207361.5):c.5417G>A (p.G1806D), FREM2(NM_207361.6):c.5417G>A (p.G1806D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38769584G>A" "" "likely benign" "" "0000284381" "0" "10" "13" "39343822" "39343822" "subst" "0.115422" "02326" "FREM2_000056" "g.39343822C>T" "" "" "" "FREM2(NM_207361.6):c.5518C>T (p.R1840W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38769685C>T" "" "benign" "" "0000284382" "0" "10" "13" "39357198" "39357198" "subst" "0.0012149" "02326" "FREM2_000059" "g.39357198T>C" "" "" "" "FREM2(NM_207361.5):c.5642-9T>C, FREM2(NM_207361.6):c.5642-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38783061T>C" "" "benign" "" "0000284384" "0" "10" "13" "39262057" "39262057" "subst" "0.999973" "02326" "FREM2_000007" "g.39262057G>A" "" "" "" "FREM2(NM_207361.6):c.576G>A (p.E192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38687920G>A" "" "benign" "" "0000284385" "0" "90" "13" "39358840" "39358840" "subst" "1.21977E-5" "02326" "FREM2_000062" "g.39358840G>A" "" "" "" "FREM2(NM_207361.6):c.5914G>A (p.E1972K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38784703G>A" "" "pathogenic" "" "0000284386" "0" "90" "13" "39358843" "39358843" "subst" "0" "02326" "FREM2_000063" "g.39358843G>T" "" "" "" "FREM2(NM_207361.6):c.5917G>T (p.E1973*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38784706G>T" "" "pathogenic" "" "0000284387" "0" "10" "13" "39381301" "39381301" "subst" "0" "02326" "FREM2_000064" "g.39381301C>A" "" "" "" "FREM2(NM_207361.6):c.6019+22356C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38807164C>A" "" "benign" "" "0000284388" "0" "10" "13" "39420599" "39420599" "subst" "0" "02326" "FREM2_000066" "g.39420599G>A" "" "" "" "FREM2(NM_207361.6):c.6020-111G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38846462G>A" "" "benign" "" "0000284389" "0" "10" "13" "39420923" "39420923" "subst" "0" "02326" "FREM2_000069" "g.39420923T>G" "" "" "" "FREM2(NM_207361.6):c.6169+64T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38846786T>G" "" "benign" "" "0000284390" "0" "30" "13" "39422508" "39422508" "subst" "0" "02326" "FREM2_000071" "g.39422508G>A" "" "" "" "FREM2(NM_207361.6):c.6170-90G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38848371G>A" "" "likely benign" "" "0000284391" "0" "30" "13" "39422624" "39422624" "subst" "0.131395" "02326" "FREM2_000072" "g.39422624C>T" "" "" "" "FREM2(NM_207361.6):c.6196C>T (p.R2066C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38848487C>T" "" "likely benign" "" "0000284392" "0" "10" "13" "39422845" "39422845" "subst" "0.0112822" "02326" "FREM2_000074" "g.39422845T>G" "" "" "" "FREM2(NM_207361.6):c.6379+38T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38848708T>G" "" "benign" "" "0000284393" "0" "30" "13" "39424135" "39424135" "subst" "0" "02326" "FREM2_000075" "g.39424135C>G" "" "" "" "FREM2(NM_207361.6):c.6380-40C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38849998C>G" "" "likely benign" "" "0000284394" "0" "70" "13" "39424189" "39424189" "subst" "0" "02326" "FREM2_000076" "g.39424189T>G" "" "" "" "FREM2(NM_207361.6):c.6394T>G (p.F2132V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38850052T>G" "" "likely pathogenic" "" "0000284395" "0" "10" "13" "39424253" "39424253" "subst" "0.127025" "02326" "FREM2_000078" "g.39424253C>G" "" "" "" "FREM2(NM_207361.6):c.6458C>G (p.T2153S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38850116C>G" "" "benign" "" "0000284396" "0" "10" "13" "39424254" "39424254" "subst" "0.12701" "02326" "FREM2_000079" "g.39424254T>C" "" "" "" "FREM2(NM_207361.6):c.6459T>C (p.T2153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38850117T>C" "" "benign" "" "0000284397" "0" "70" "13" "39424294" "39424294" "subst" "4.4823E-5" "02326" "FREM2_000003" "g.39424294C>T" "" "" "" "FREM2(NM_207361.6):c.6499C>T (p.R2167W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38850157C>T" "" "likely pathogenic" "" "0000284398" "0" "10" "13" "39424878" "39424878" "subst" "0" "02326" "FREM2_000080" "g.39424878G>A" "" "" "" "FREM2(NM_207361.6):c.6578-203G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38850741G>A" "" "benign" "" "0000284399" "0" "10" "13" "39425906" "39425906" "subst" "0.0017631" "02326" "FREM2_000081" "g.39425906G>A" "" "" "" "FREM2(NM_207361.6):c.6826G>A (p.(Val2276Met), p.V2276M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38851769G>A" "" "benign" "" "0000284400" "0" "10" "13" "39430314" "39430314" "subst" "0.747654" "02326" "FREM2_000084" "g.39430314C>T" "" "" "" "FREM2(NM_207361.6):c.6977C>T (p.T2326I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38856177C>T" "" "benign" "" "0000284401" "0" "50" "13" "39430350" "39430350" "subst" "0" "02326" "FREM2_000086" "g.39430350C>T" "" "" "" "FREM2(NM_207361.6):c.7013C>T (p.T2338I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38856213C>T" "" "VUS" "" "0000284402" "0" "10" "13" "39430443" "39430443" "subst" "0.213897" "02326" "FREM2_000087" "g.39430443G>A" "" "" "" "FREM2(NM_207361.6):c.7056+50G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38856306G>A" "" "benign" "" "0000284403" "0" "10" "13" "39431835" "39431835" "subst" "0" "02326" "FREM2_000088" "g.39431835C>T" "" "" "" "FREM2(NM_207361.6):c.7057-177C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38857698C>T" "" "benign" "" "0000284404" "0" "10" "13" "39431945" "39431945" "subst" "0" "02326" "FREM2_000089" "g.39431945T>C" "" "" "" "FREM2(NM_207361.6):c.7057-67T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38857808T>C" "" "benign" "" "0000284405" "0" "90" "13" "39432172" "39432172" "subst" "0" "02326" "FREM2_000090" "g.39432172T>C" "" "" "" "FREM2(NM_207361.6):c.7215+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38858035T>C" "" "pathogenic" "" "0000284406" "0" "10" "13" "39433372" "39433372" "subst" "0" "02326" "FREM2_000091" "g.39433372C>T" "" "" "" "FREM2(NM_207361.6):c.7216-52C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38859235C>T" "" "benign" "" "0000284407" "0" "50" "13" "39433728" "39433728" "subst" "0" "02326" "FREM2_000095" "g.39433728G>A" "" "" "" "FREM2(NM_207361.6):c.7519+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38859591G>A" "" "VUS" "" "0000284408" "0" "10" "13" "39435558" "39435559" "ins" "0" "02326" "FREM2_000103" "g.39435558_39435559insCT" "" "" "" "FREM2(NM_207361.6):c.7520-10_7520-9insCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38861421_38861422insCT" "" "benign" "" "0000284410" "0" "10" "13" "39435425" "39435425" "subst" "0" "02326" "FREM2_000098" "g.39435425G>A" "" "" "" "FREM2(NM_207361.6):c.7520-143G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38861288G>A" "" "benign" "" "0000284411" "0" "10" "13" "39435563" "39435563" "del" "0" "02326" "FREM2_000100" "g.39435563del" "" "" "" "FREM2(NM_207361.6):c.7520-5del, FREM2(NM_207361.6):c.7520-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38861426del" "" "benign" "" "0000284412" "0" "10" "13" "39435552" "39435553" "ins" "0" "02326" "FREM2_000099" "g.39435552_39435553insG" "" "" "" "FREM2(NM_207361.6):c.7520-15delTinsGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38861415_38861416insG" "" "benign" "" "0000284413" "0" "30" "13" "39435553" "39435553" "subst" "0" "02326" "FREM2_000101" "g.39435553T>G" "" "" "" "FREM2(NM_207361.6):c.7520-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38861416T>G" "" "likely benign" "" "0000284414" "0" "10" "13" "39435638" "39435638" "subst" "0.000844931" "02326" "FREM2_000104" "g.39435638C>T" "" "" "" "FREM2(NM_207361.5):c.7590C>T (p.G2530=), FREM2(NM_207361.6):c.7590C>T (p.G2530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38861501C>T" "" "benign" "" "0000284415" "0" "10" "13" "39435883" "39435883" "subst" "0" "02326" "FREM2_000106" "g.39435883G>A" "" "" "" "FREM2(NM_207361.6):c.7651+184G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38861746G>A" "" "benign" "" "0000284416" "0" "10" "13" "39435771" "39435771" "subst" "0" "02326" "FREM2_000105" "g.39435771C>T" "" "" "" "FREM2(NM_207361.6):c.7651+72C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38861634C>T" "" "benign" "" "0000284417" "0" "10" "13" "39438260" "39438260" "subst" "0" "02326" "FREM2_000108" "g.39438260C>T" "" "" "" "FREM2(NM_207361.6):c.7652-152C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38864123C>T" "" "benign" "" "0000284418" "0" "10" "13" "39438223" "39438223" "subst" "0" "02326" "FREM2_000107" "g.39438223C>T" "" "" "" "FREM2(NM_207361.6):c.7652-189C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38864086C>T" "" "benign" "" "0000284419" "0" "10" "13" "39438383" "39438383" "subst" "0.26065" "02326" "FREM2_000109" "g.39438383C>A" "" "" "" "FREM2(NM_207361.6):c.7652-29C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38864246C>A" "" "benign" "" "0000284420" "0" "10" "13" "39446869" "39446869" "subst" "0.179539" "02326" "FREM2_000112" "g.39446869G>A" "" "" "" "FREM2(NM_207361.6):c.7984-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38872732G>A" "" "benign" "" "0000284421" "0" "90" "13" "39450520" "39450520" "subst" "0" "02326" "FREM2_000117" "g.39450520G>T" "" "" "" "FREM2(NM_207361.6):c.8544+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38876383G>T" "" "pathogenic" "" "0000284422" "0" "10" "13" "39452235" "39452235" "subst" "0.718703" "02326" "FREM2_000120" "g.39452235T>C" "" "" "" "FREM2(NM_207361.6):c.8672-36T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38878098T>C" "" "benign" "" "0000284425" "0" "10" "13" "39452934" "39452934" "subst" "0.336997" "02326" "FREM2_000125" "g.39452934C>T" "" "" "" "FREM2(NM_207361.6):c.8860-34C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38878797C>T" "" "benign" "" "0000284426" "0" "30" "13" "39453010" "39453010" "subst" "0.00403347" "02326" "FREM2_000126" "g.39453010G>A" "" "" "" "FREM2(NM_207361.4):c.8902G>A (p.(Val2968Ile)), FREM2(NM_207361.6):c.8902G>A (p.V2968I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38878873G>A" "" "likely benign" "" "0000284427" "0" "90" "13" "39454640" "39454640" "subst" "0" "02326" "FREM2_000130" "g.39454640C>T" "" "" "" "FREM2(NM_207361.6):c.9226C>T (p.Q3076*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38880503C>T" "" "pathogenic" "" "0000284428" "0" "10" "13" "39454771" "39454771" "subst" "0.0435071" "02326" "FREM2_000131" "g.39454771G>C" "" "" "" "FREM2(NM_207361.6):c.9357G>C (p.T3119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38880634G>C" "" "benign" "" "0000284429" "0" "30" "13" "39454843" "39454843" "subst" "0.0218159" "02326" "FREM2_000132" "g.39454843G>A" "" "" "" "FREM2(NM_207361.6):c.9429G>A (p.G3143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38880706G>A" "" "likely benign" "" "0000287918" "0" "50" "13" "39263086" "39263086" "subst" "1.22728E-5" "01943" "FREM2_000012" "g.39263086C>T" "" "" "" "FREM2(NM_207361.5):c.1605C>T (p.R535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38688949C>T" "" "VUS" "" "0000287919" "0" "50" "13" "39263660" "39263660" "subst" "1.21944E-5" "01943" "FREM2_000021" "g.39263660C>T" "" "" "" "FREM2(NM_207361.5):c.2179C>T (p.R727C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689523C>T" "" "VUS" "" "0000287920" "0" "10" "13" "39266382" "39266382" "subst" "0.00219359" "01943" "FREM2_000038" "g.39266382C>T" "" "" "" "FREM2(NM_207361.5):c.4901C>T (p.T1634M), FREM2(NM_207361.6):c.4901C>T (p.(Thr1634Met), p.T1634M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38692245C>T" "" "benign" "" "0000287921" "0" "50" "13" "39420761" "39420761" "subst" "0" "01943" "FREM2_000068" "g.39420761G>A" "" "" "" "FREM2(NM_207361.5):c.6071G>A (p.G2024D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38846624G>A" "" "VUS" "" "0000287922" "0" "30" "13" "39433531" "39433531" "subst" "0.0012108" "01943" "FREM2_000092" "g.39433531G>A" "" "" "" "FREM2(NM_207361.5):c.7323G>A (p.A2441=), FREM2(NM_207361.6):c.7323G>A (p.A2441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38859394G>A" "" "likely benign" "" "0000287923" "0" "30" "13" "39433543" "39433543" "subst" "0.000597197" "01943" "FREM2_000093" "g.39433543T>C" "" "" "" "FREM2(NM_207361.5):c.7335T>C (p.G2445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38859406T>C" "" "likely benign" "" "0000287924" "0" "30" "13" "39450435" "39450435" "subst" "0.0022839" "01943" "FREM2_000116" "g.39450435C>G" "" "" "" "FREM2(NM_207361.5):c.8460C>G (p.A2820=), FREM2(NM_207361.6):c.8460C>G (p.A2820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38876298C>G" "" "likely benign" "" "0000287925" "0" "30" "13" "39454424" "39454424" "subst" "0.000162816" "01943" "FREM2_000128" "g.39454424G>A" "" "" "" "FREM2(NM_207361.5):c.9010G>A (p.A3004T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38880287G>A" "" "likely benign" "" "0000323361" "0" "50" "13" "39261726" "39261726" "subst" "0" "01804" "FREM2_000005" "g.39261726C>T" "" "" "" "FREM2(NM_207361.4):c.245C>T (p.(Pro82Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38687589C>T" "" "VUS" "" "0000323363" "0" "50" "13" "39263158" "39263158" "subst" "0.000109875" "01804" "FREM2_000013" "g.39263158G>C" "" "" "" "FREM2(NM_207361.4):c.1677G>C (p.(Gln559His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689021G>C" "" "VUS" "" "0000323365" "0" "50" "13" "39263534" "39263534" "subst" "2.43946E-5" "01804" "FREM2_000017" "g.39263534G>A" "" "" "" "FREM2(NM_207361.4):c.2053G>A (p.(Gly685Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689397G>A" "" "VUS" "" "0000323367" "0" "30" "13" "39263609" "39263609" "subst" "0.00250284" "01804" "FREM2_000019" "g.39263609C>T" "" "" "" "FREM2(NM_207361.4):c.2128C>T (p.(Arg710Cys)), FREM2(NM_207361.5):c.2128C>T (p.R710C), FREM2(NM_207361.6):c.2128C>T (p.R710C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38689472C>T" "" "likely benign" "" "0000323370" "0" "50" "13" "39265913" "39265913" "subst" "0" "01804" "FREM2_000035" "g.39265913T>C" "" "" "" "FREM2(NM_207361.4):c.4432T>C (p.(Ser1478Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38691776T>C" "" "VUS" "" "0000323372" "0" "50" "13" "39266540" "39266540" "subst" "6.12165E-5" "01804" "FREM2_000041" "g.39266540G>T" "" "" "" "FREM2(NM_207361.4):c.5059G>T (p.?), FREM2(NM_207361.5):c.5059G>T (p.E1687*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38692403G>T" "" "VUS" "" "0000323373" "0" "50" "13" "39266541" "39266541" "subst" "6.12295E-5" "01804" "FREM2_000042" "g.39266541A>C" "" "" "" "FREM2(NM_207361.4):c.5060A>C (p.(Glu1687Ala)), FREM2(NM_207361.5):c.5060A>C (p.E1687A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38692404A>C" "" "VUS" "" "0000323375" "0" "50" "13" "39343738" "39343738" "subst" "0.000187165" "01804" "FREM2_000055" "g.39343738G>A" "" "" "" "FREM2(NM_207361.4):c.5434G>A (p.(Ala1812Thr)), FREM2(NM_207361.5):c.5434G>A (p.A1812T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38769601G>A" "" "VUS" "" "0000323377" "0" "50" "13" "39420757" "39420757" "subst" "8.13584E-6" "01804" "FREM2_000067" "g.39420757G>A" "" "" "" "FREM2(NM_207361.4):c.6067G>A (p.(Ala2023Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38846620G>A" "" "VUS" "" "0000323380" "0" "50" "13" "39425937" "39425937" "subst" "1.22265E-5" "01804" "FREM2_000082" "g.39425937C>G" "" "" "" "FREM2(NM_207361.4):c.6857C>G (p.(Ser2286Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38851800C>G" "" "VUS" "" "0000323382" "0" "30" "13" "39438517" "39438517" "subst" "0" "01804" "FREM2_000110" "g.39438517A>G" "" "" "" "FREM2(NM_207361.4):c.7757A>G (p.(Tyr2586Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38864380A>G" "" "likely benign" "" "0000323384" "0" "30" "13" "39453010" "39453010" "subst" "0.00403347" "01804" "FREM2_000126" "g.39453010G>A" "" "" "" "FREM2(NM_207361.4):c.8902G>A (p.(Val2968Ile)), FREM2(NM_207361.6):c.8902G>A (p.V2968I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38878873G>A" "" "likely benign" "" "0000350236" "0" "50" "13" "39264639" "39264639" "subst" "0" "02327" "FREM2_000134" "g.39264639T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38690502T>G" "" "VUS" "" "0000350705" "0" "50" "13" "39264468" "39264468" "subst" "0.000182734" "02327" "FREM2_000133" "g.39264468T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38690331T>A" "" "VUS" "" "0000550750" "0" "30" "13" "39261565" "39261565" "subst" "0.00194312" "01943" "FREM2_000139" "g.39261565C>G" "" "" "" "FREM2(NM_207361.5):c.84C>G (p.P28=), FREM2(NM_207361.6):c.84C>G (p.P28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38687428C>G" "" "likely benign" "" "0000550752" "0" "30" "13" "39261657" "39261657" "subst" "0.0010091" "01804" "FREM2_000141" "g.39261657G>A" "" "" "" "FREM2(NM_207361.4):c.176G>A (p.(Gly59Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38687520G>A" "" "likely benign" "" "0000550753" "0" "30" "13" "39261777" "39261777" "subst" "0" "01804" "FREM2_000142" "g.39261777T>C" "" "" "" "FREM2(NM_207361.4):c.296T>C (p.(Val99Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38687640T>C" "" "likely benign" "" "0000550754" "0" "50" "13" "39261786" "39261786" "subst" "0.000113542" "01804" "FREM2_000143" "g.39261786G>C" "" "" "" "FREM2(NM_207361.4):c.305G>C (p.(Gly102Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38687649G>C" "" "VUS" "" "0000550755" "0" "50" "13" "39261948" "39261948" "subst" "0" "01943" "FREM2_000144" "g.39261948G>T" "" "" "" "FREM2(NM_207361.5):c.467G>T (p.R156L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38687811G>T" "" "VUS" "" "0000550756" "0" "50" "13" "39262013" "39262013" "subst" "0.000341917" "01943" "FREM2_000145" "g.39262013C>A" "" "" "" "FREM2(NM_207361.5):c.532C>A (p.Q178K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38687876C>A" "" "VUS" "" "0000550757" "0" "30" "13" "39262119" "39262119" "subst" "1.23182E-5" "01804" "FREM2_000146" "g.39262119C>T" "" "" "" "FREM2(NM_207361.4):c.638C>T (p.(Thr213Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38687982C>T" "" "likely benign" "" "0000550758" "0" "30" "13" "39262185" "39262185" "subst" "0" "01943" "FREM2_000147" "g.39262185A>G" "" "" "" "FREM2(NM_207361.5):c.704A>G (p.H235R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38688048A>G" "" "likely benign" "" "0000550759" "0" "30" "13" "39262669" "39262669" "subst" "0.0016917" "01804" "FREM2_000148" "g.39262669G>C" "" "" "" "FREM2(NM_207361.4):c.1188G>C (p.(Gln396His)), FREM2(NM_207361.6):c.1188G>C (p.Q396H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38688532G>C" "" "likely benign" "" "0000550760" "0" "10" "13" "39262999" "39262999" "subst" "0.00886963" "02326" "FREM2_000149" "g.39262999C>T" "" "" "" "FREM2(NM_207361.6):c.1518C>T (p.S506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38688862C>T" "" "benign" "" "0000550762" "0" "50" "13" "39263609" "39263609" "subst" "0.00250284" "01943" "FREM2_000019" "g.39263609C>T" "" "" "" "FREM2(NM_207361.4):c.2128C>T (p.(Arg710Cys)), FREM2(NM_207361.5):c.2128C>T (p.R710C), FREM2(NM_207361.6):c.2128C>T (p.R710C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38689472C>T" "" "VUS" "" "0000550764" "0" "90" "13" "39263687" "39263687" "subst" "4.07395E-6" "01943" "FREM2_000022" "g.39263687C>T" "" "" "" "FREM2(NM_207361.5):c.2206C>T (p.R736*), FREM2(NM_207361.6):c.2206C>T (p.(Arg736*), p.R736*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38689550C>T" "" "pathogenic" "" "0000550765" "0" "30" "13" "39263789" "39263789" "subst" "0.0155278" "01804" "FREM2_000151" "g.39263789G>A" "" "" "" "FREM2(NM_207361.4):c.2308G>A (p.(Val770Met)), FREM2(NM_207361.6):c.2308G>A (p.V770M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38689652G>A" "" "likely benign" "" "0000550766" "0" "10" "13" "39263789" "39263789" "subst" "0.0155278" "02326" "FREM2_000151" "g.39263789G>A" "" "" "" "FREM2(NM_207361.4):c.2308G>A (p.(Val770Met)), FREM2(NM_207361.6):c.2308G>A (p.V770M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38689652G>A" "" "benign" "" "0000550767" "0" "50" "13" "39263985" "39263985" "subst" "0" "01943" "FREM2_000152" "g.39263985C>A" "" "" "" "FREM2(NM_207361.5):c.2504C>A (p.T835N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38689848C>A" "" "VUS" "" "0000550769" "0" "30" "13" "39264127" "39264127" "subst" "0" "01804" "FREM2_000153" "g.39264127G>T" "" "" "" "FREM2(NM_207361.4):c.2646G>T (p.(Gln882His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38689990G>T" "" "likely benign" "" "0000550770" "0" "30" "13" "39264459" "39264459" "subst" "0.00133191" "01804" "FREM2_000154" "g.39264459A>G" "" "" "" "FREM2(NM_207361.4):c.2978A>G (p.(Glu993Gly)), FREM2(NM_207361.6):c.2978A>G (p.E993G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38690322A>G" "" "likely benign" "" "0000550772" "0" "30" "13" "39264747" "39264747" "subst" "0.000223517" "01804" "FREM2_000156" "g.39264747A>T" "" "" "" "FREM2(NM_207361.4):c.3266A>T (p.(His1089Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38690610A>T" "" "likely benign" "" "0000550773" "0" "30" "13" "39265158" "39265158" "subst" "7.31059E-5" "01943" "FREM2_000157" "g.39265158C>G" "" "" "" "FREM2(NM_207361.5):c.3677C>G (p.T1226S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38691021C>G" "" "likely benign" "" "0000550774" "0" "50" "13" "39265410" "39265410" "subst" "4.06382E-6" "01804" "FREM2_000158" "g.39265410A>G" "" "" "" "FREM2(NM_207361.4):c.3929A>G (p.(Asn1310Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38691273A>G" "" "VUS" "" "0000550775" "0" "30" "13" "39265512" "39265512" "subst" "0.0035947" "01804" "FREM2_000159" "g.39265512G>A" "" "" "" "FREM2(NM_207361.4):c.4031G>A (p.(Arg1344His)), FREM2(NM_207361.5):c.4031G>A (p.R1344H), FREM2(NM_207361.6):c.4031G>A (p.R1344H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38691375G>A" "" "likely benign" "" "0000550777" "0" "30" "13" "39266207" "39266207" "subst" "0.00100722" "01804" "FREM2_000161" "g.39266207C>G" "" "" "" "FREM2(NM_207361.4):c.4726C>G (p.(Pro1576Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38692070C>G" "" "likely benign" "" "0000550778" "0" "30" "13" "39266211" "39266211" "subst" "0.00100715" "01804" "FREM2_000162" "g.39266211T>C" "" "" "" "FREM2(NM_207361.4):c.4730T>C (p.(Ile1577Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38692074T>C" "" "likely benign" "" "0000550779" "0" "30" "13" "39266590" "39266590" "subst" "0.00178921" "01943" "FREM2_000163" "g.39266590C>T" "" "" "" "FREM2(NM_207361.5):c.5109C>T (p.A1703=), FREM2(NM_207361.6):c.5109C>T (p.A1703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38692453C>T" "" "likely benign" "" "0000550780" "0" "30" "13" "39266619" "39266619" "subst" "2.03978E-5" "01943" "FREM2_000044" "g.39266619A>G" "" "" "" "FREM2(NM_207361.5):c.5138A>G (p.D1713G), FREM2(NM_207361.6):c.5138A>G (p.D1713G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38692482A>G" "" "likely benign" "" "0000550781" "0" "50" "13" "39266624" "39266624" "subst" "8.17074E-6" "01943" "FREM2_000164" "g.39266624G>A" "" "" "" "FREM2(NM_207361.5):c.5143G>A (p.G1715S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38692487G>A" "" "VUS" "" "0000550782" "0" "50" "13" "39338436" "39338436" "subst" "0.000187452" "01943" "FREM2_000165" "g.39338436T>G" "" "" "" "FREM2(NM_207361.5):c.5264-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38764299T>G" "" "VUS" "" "0000550783" "0" "30" "13" "39338457" "39338457" "subst" "4.88281E-5" "01943" "FREM2_000166" "g.39338457G>A" "" "" "" "FREM2(NM_207361.5):c.5280G>A (p.T1760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38764320G>A" "" "likely benign" "" "0000550784" "0" "50" "13" "39338463" "39338463" "subst" "0" "01804" "FREM2_000167" "g.39338463G>T" "" "" "" "FREM2(NM_207361.4):c.5286G>T (p.(Gln1762His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38764326G>T" "" "VUS" "" "0000550785" "0" "50" "13" "39343721" "39343721" "subst" "0.00090013" "01943" "FREM2_000054" "g.39343721G>A" "" "" "" "FREM2(NM_207361.5):c.5417G>A (p.G1806D), FREM2(NM_207361.6):c.5417G>A (p.G1806D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38769584G>A" "" "VUS" "" "0000550787" "0" "50" "13" "39343788" "39343788" "subst" "0" "01943" "FREM2_000168" "g.39343788C>G" "" "" "" "FREM2(NM_207361.5):c.5484C>G (p.F1828L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38769651C>G" "" "VUS" "" "0000550788" "0" "90" "13" "39357317" "39357317" "dup" "0" "02326" "FREM2_000169" "g.39357317dup" "" "" "" "FREM2(NM_207361.6):c.5752dupT (p.C1918Lfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38783180dup" "" "pathogenic" "" "0000550790" "0" "10" "13" "39420663" "39420663" "subst" "0.131814" "02326" "FREM2_000171" "g.39420663T>C" "" "" "" "FREM2(NM_207361.6):c.6020-47T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38846526T>C" "" "benign" "" "0000550791" "0" "50" "13" "39422629" "39422629" "subst" "0.000130168" "01943" "FREM2_000172" "g.39422629T>A" "" "" "" "FREM2(NM_207361.5):c.6201T>A (p.N2067K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38848492T>A" "" "VUS" "" "0000550792" "0" "50" "13" "39422762" "39422762" "subst" "2.44343E-5" "01943" "FREM2_000073" "g.39422762G>A" "" "" "" "FREM2(NM_207361.5):c.6334G>A (p.E2112K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38848625G>A" "" "VUS" "" "0000550793" "0" "50" "13" "39425149" "39425149" "subst" "0.000305233" "01943" "FREM2_000173" "g.39425149C>T" "" "" "" "FREM2(NM_207361.5):c.6646C>T (p.R2216C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38851012C>T" "" "VUS" "" "0000550794" "0" "30" "13" "39425177" "39425177" "subst" "0.000203426" "01943" "FREM2_000174" "g.39425177A>G" "" "" "" "FREM2(NM_207361.5):c.6674A>G (p.N2225S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38851040A>G" "" "likely benign" "" "0000550795" "0" "30" "13" "39425887" "39425887" "subst" "1.22129E-5" "01943" "FREM2_000175" "g.39425887G>A" "" "" "" "FREM2(NM_207361.5):c.6807G>A (p.S2269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38851750G>A" "" "likely benign" "" "0000550796" "0" "30" "13" "39425906" "39425906" "subst" "0.0017631" "01804" "FREM2_000081" "g.39425906G>A" "" "" "" "FREM2(NM_207361.6):c.6826G>A (p.(Val2276Met), p.V2276M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38851769G>A" "" "likely benign" "" "0000550797" "0" "50" "13" "39425958" "39425958" "subst" "2.04042E-5" "01804" "FREM2_000176" "g.39425958A>G" "" "" "" "FREM2(NM_207361.4):c.6878A>G (p.(Lys2293Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38851821A>G" "" "VUS" "" "0000550798" "0" "30" "13" "39432017" "39432017" "subst" "0.000507808" "01943" "FREM2_000177" "g.39432017G>A" "" "" "" "FREM2(NM_207361.5):c.7062G>A (p.T2354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38857880G>A" "" "likely benign" "" "0000550799" "0" "10" "13" "39432023" "39432023" "subst" "0.000946408" "01943" "FREM2_000178" "g.39432023C>T" "" "" "" "FREM2(NM_207361.5):c.7068C>T (p.A2356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38857886C>T" "" "benign" "" "0000550801" "0" "50" "13" "39433597" "39433597" "subst" "4.47064E-5" "01943" "FREM2_000179" "g.39433597G>T" "" "" "" "FREM2(NM_207361.5):c.7389G>T (p.K2463N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38859460G>T" "" "VUS" "" "0000550802" "0" "50" "13" "39433637" "39433637" "subst" "0.000829882" "01943" "FREM2_000180" "g.39433637C>T" "" "" "" "FREM2(NM_207361.5):c.7429C>T (p.R2477W), FREM2(NM_207361.6):c.7429C>T (p.(Arg2477Trp), p.R2477W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38859500C>T" "" "VUS" "" "0000550804" "0" "10" "13" "39435559" "39435560" "ins" "0" "02326" "FREM2_000182" "g.39435559_39435560insCT" "" "" "" "FREM2(NM_207361.6):c.7520-9_7520-8insCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38861422_38861423insCT" "" "benign" "" "0000550805" "0" "10" "13" "39435562" "39435562" "subst" "0" "02326" "FREM2_000183" "g.39435562T>C" "" "" "" "FREM2(NM_207361.6):c.7520-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38861425T>C" "" "benign" "" "0000550807" "0" "30" "13" "39435564" "39435568" "del" "0" "01804" "FREM2_000185" "g.39435564_39435568del" "" "" "" "FREM2(NM_207361.4):c.7520-4_7520del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38861427_38861431del" "" "likely benign" "" "0000550808" "0" "30" "13" "39435569" "39435570" "ins" "0" "01804" "FREM2_000186" "g.39435569_39435570insTTTTT" "" "" "" "FREM2(NM_207361.4):c.7520_7521insTTTTT (p.(Leu2508PhefsTer44))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38861432_38861433insTTTTT" "" "likely benign" "" "0000550809" "0" "30" "13" "39435570" "39435570" "subst" "0" "01804" "FREM2_000187" "g.39435570C>T" "" "" "" "FREM2(NM_207361.4):c.7522C>T (p.(Leu2508Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38861433C>T" "" "likely benign" "" "0000550810" "0" "10" "13" "39435638" "39435638" "subst" "0.000844931" "01943" "FREM2_000104" "g.39435638C>T" "" "" "" "FREM2(NM_207361.5):c.7590C>T (p.G2530=), FREM2(NM_207361.6):c.7590C>T (p.G2530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38861501C>T" "" "benign" "" "0000550811" "0" "50" "13" "39438423" "39438423" "subst" "0.000318006" "01943" "FREM2_000188" "g.39438423G>T" "" "" "" "FREM2(NM_207361.5):c.7663G>T (p.V2555L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38864286G>T" "" "VUS" "" "0000550813" "0" "30" "13" "39447067" "39447067" "subst" "0.000277553" "01943" "FREM2_000189" "g.39447067T>A" "" "" "" "FREM2(NM_207361.5):c.8172T>A (p.L2724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38872930T>A" "" "likely benign" "" "0000550814" "0" "30" "13" "39451337" "39451337" "subst" "4.06118E-6" "01943" "FREM2_000190" "g.39451337A>T" "" "" "" "FREM2(NM_207361.5):c.8628A>T (p.G2876=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38877200A>T" "" "likely benign" "" "0000550815" "0" "10" "13" "39452540" "39452541" "ins" "0" "02326" "FREM2_000191" "g.39452540_39452541insCCGG" "" "" "" "FREM2(NM_207361.6):c.8859+80_8859+81insGGCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38878403_38878404insCCGG" "" "benign" "" "0000550816" "0" "10" "13" "39452553" "39452554" "ins" "0" "02326" "FREM2_000192" "g.39452553_39452554insG" "" "" "" "FREM2(NM_207361.6):c.8859+95_8859+96insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38878416_38878417insG" "" "benign" "" "0000550817" "0" "10" "13" "39452800" "39452800" "subst" "0" "02326" "FREM2_000193" "g.39452800C>T" "" "" "" "FREM2(NM_207361.6):c.8860-168C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38878663C>T" "" "benign" "" "0000550818" "0" "30" "13" "39452993" "39452993" "subst" "0.0046223" "01804" "FREM2_000194" "g.39452993C>T" "" "" "" "FREM2(NM_207361.4):c.8885C>T (p.(Ala2962Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38878856C>T" "" "likely benign" "" "0000550819" "0" "90" "13" "39454429" "39454429" "dup" "0" "01943" "FREM2_000195" "g.39454429dup" "" "" "" "FREM2(NM_207361.5):c.9015dupA (p.G3006Rfs*63)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38880292dup" "" "pathogenic" "" "0000550820" "0" "50" "13" "39454452" "39454452" "subst" "0.00226347" "01943" "FREM2_000196" "g.39454452C>T" "" "" "" "FREM2(NM_207361.5):c.9038C>T (p.T3013M), FREM2(NM_207361.6):c.9038C>T (p.T3013M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38880315C>T" "" "VUS" "" "0000550822" "0" "10" "13" "39454598" "39454598" "subst" "0.00160951" "02326" "FREM2_000129" "g.39454598G>T" "" "" "" "FREM2(NM_207361.6):c.9184G>T (p.A3062S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38880461G>T" "" "benign" "" "0000614645" "0" "50" "13" "39261663" "39261663" "subst" "0" "01804" "FREM2_000198" "g.39261663C>A" "" "" "" "FREM2(NM_207361.4):c.182C>A (p.(Ala61Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38687526C>A" "" "VUS" "" "0000614646" "0" "50" "13" "39263913" "39263913" "subst" "0.000179098" "01943" "FREM2_000200" "g.39263913G>A" "" "" "" "FREM2(NM_207361.4):c.2432G>A (p.(Gly811Glu)), FREM2(NM_207361.5):c.2432G>A (p.G811E), FREM2(NM_207361.6):c.2432G>A (p.G811E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38689776G>A" "" "VUS" "" "0000614647" "0" "30" "13" "39266011" "39266011" "subst" "0.000150951" "01943" "FREM2_000201" "g.39266011A>G" "" "" "" "FREM2(NM_207361.5):c.4530A>G (p.Q1510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38691874A>G" "" "likely benign" "" "0000614648" "0" "50" "13" "39338486" "39338491" "dup" "0" "01804" "FREM2_000202" "g.39338486_39338491dup" "" "" "" "FREM2(NM_207361.4):c.5307_5308insTGGATC (p.(Trp1770_Ile1771dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38764349_38764354dup" "" "VUS" "" "0000614649" "0" "50" "13" "39425117" "39425117" "subst" "2.03641E-5" "01943" "FREM2_000203" "g.39425117A>G" "" "" "" "FREM2(NM_207361.5):c.6614A>G (p.D2205G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38850980A>G" "" "VUS" "" "0000614650" "0" "30" "13" "39454711" "39454711" "subst" "0.000187269" "01943" "FREM2_000205" "g.39454711C>T" "" "" "" "FREM2(NM_207361.5):c.9297C>T (p.P3099=), FREM2(NM_207361.6):c.9297C>T (p.P3099=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38880574C>T" "" "likely benign" "" "0000623063" "0" "50" "13" "39263061" "39263061" "subst" "0.000251723" "01943" "FREM2_000199" "g.39263061C>T" "" "" "" "FREM2(NM_207361.5):c.1580C>T (p.S527L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38688924C>T" "" "VUS" "" "0000623064" "0" "70" "13" "39454511" "39454511" "subst" "0" "01943" "FREM2_000204" "g.39454511G>T" "" "" "" "FREM2(NM_207361.5):c.9097G>T (p.E3033*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38880374G>T" "" "likely pathogenic" "" "0000648785" "1" "50" "13" "39263084" "39263084" "subst" "0.000159823" "03575" "FREM2_000206" "g.39263084C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs201457616}" "Germline" "" "rs201457616" "0" "" "" "g.38688947C>T" "" "VUS" "" "0000648787" "1" "50" "13" "39265460" "39265460" "subst" "0.000836752" "03575" "FREM2_000207" "g.39265460T>A" "1/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs116653247}" "Germline" "" "rs116653247" "0" "" "" "g.38691323T>A" "" "VUS" "" "0000648788" "1" "50" "13" "39265512" "39265512" "subst" "0.0035947" "03575" "FREM2_000159" "g.39265512G>A" "24/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous, no homozygous; {DB:CLININrs143044921}" "Germline" "" "rs143044921" "0" "" "" "g.38691375G>A" "" "VUS" "" "0000648789" "1" "50" "13" "39265800" "39265800" "subst" "0.00211185" "03575" "FREM2_000033" "g.39265800C>A" "70/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "70 heterozygous; {DB:CLININrs79048205}" "Germline" "" "rs79048205" "0" "" "" "g.38691663C>A" "" "VUS" "" "0000648790" "1" "50" "13" "39358715" "39358715" "subst" "0.000223715" "03575" "FREM2_000208" "g.39358715C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs114524483}" "Germline" "" "rs114524483" "0" "" "" "g.38784578C>T" "" "VUS" "" "0000657304" "0" "50" "13" "39358810" "39358810" "subst" "1.62639E-5" "01943" "FREM2_000209" "g.39358810C>T" "" "" "" "FREM2(NM_207361.5):c.5884C>T (p.R1962W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38784673C>T" "" "VUS" "" "0000669226" "3" "50" "13" "39265800" "39265800" "subst" "0.00211185" "03575" "FREM2_000033" "g.39265800C>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs79048205}" "Germline" "" "rs79048205" "0" "" "" "g.38691663C>A" "" "VUS" "" "0000679809" "0" "30" "13" "39261958" "39261958" "subst" "3.94695E-5" "01943" "FREM2_000212" "g.39261958G>T" "" "" "" "FREM2(NM_207361.5):c.477G>T (p.A159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679810" "0" "50" "13" "39262041" "39262041" "subst" "0.000197108" "01943" "FREM2_000213" "g.39262041C>T" "" "" "" "FREM2(NM_207361.5):c.560C>T (p.P187L), FREM2(NM_207361.6):c.560C>T (p.(Pro187Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679811" "0" "50" "13" "39262826" "39262826" "subst" "0.000166545" "01943" "FREM2_000214" "g.39262826C>G" "" "" "" "FREM2(NM_207361.4):c.1345C>G (p.(Leu449Val)), FREM2(NM_207361.5):c.1345C>G (p.L449V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679812" "0" "50" "13" "39262845" "39262845" "subst" "4.06217E-6" "01943" "FREM2_000215" "g.39262845G>A" "" "" "" "FREM2(NM_207361.5):c.1364G>A (p.R455Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679813" "0" "50" "13" "39263907" "39263907" "subst" "1.6297E-5" "01804" "FREM2_000216" "g.39263907G>A" "" "" "" "FREM2(NM_207361.4):c.2426G>A (p.(Arg809Gln)), FREM2(NM_207361.5):c.2426G>A (p.R809Q), FREM2(NM_207361.6):c.2426G>A (p.R809Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679814" "0" "30" "13" "39265512" "39265512" "subst" "0.0035947" "01943" "FREM2_000159" "g.39265512G>A" "" "" "" "FREM2(NM_207361.4):c.4031G>A (p.(Arg1344His)), FREM2(NM_207361.5):c.4031G>A (p.R1344H), FREM2(NM_207361.6):c.4031G>A (p.R1344H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679815" "0" "30" "13" "39266441" "39266441" "subst" "0.000233687" "01943" "FREM2_000217" "g.39266441A>C" "" "" "" "FREM2(NM_207361.5):c.4960A>C (p.S1654R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679816" "0" "50" "13" "39338531" "39338531" "subst" "0.000513741" "01943" "FREM2_000218" "g.39338531A>C" "" "" "" "FREM2(NM_207361.5):c.5354A>C (p.K1785T), FREM2(NM_207361.6):c.5354A>C (p.K1785T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679817" "0" "50" "13" "39454458" "39454458" "subst" "0" "01943" "FREM2_000219" "g.39454458A>G" "" "" "" "FREM2(NM_207361.5):c.9044A>G (p.Y3015C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682824" "0" "50" "13" "39452388" "39452388" "subst" "0" "00006" "FREM2_000210" "g.39452388A>G" "" "{PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000682825" "11" "50" "13" "39425899" "39425899" "subst" "2.03552E-5" "00006" "FREM2_000211" "g.39425899A>C" "" "{PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000691540" "0" "50" "13" "39261590" "39261590" "subst" "0.00103211" "01943" "FREM2_000004" "g.39261590C>T" "" "" "" "FREM2(NM_207361.5):c.109C>T (p.L37F), FREM2(NM_207361.6):c.109C>T (p.L37F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691541" "0" "30" "13" "39262731" "39262731" "subst" "0.00121453" "02326" "FREM2_000220" "g.39262731T>C" "" "" "" "FREM2(NM_207361.5):c.1250T>C (p.L417P), FREM2(NM_207361.6):c.1250T>C (p.L417P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691542" "0" "50" "13" "39263954" "39263954" "subst" "4.06184E-5" "01943" "FREM2_000221" "g.39263954G>A" "" "" "" "FREM2(NM_207361.5):c.2473G>A (p.V825M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691543" "0" "50" "13" "39265467" "39265467" "subst" "4.06177E-6" "01943" "FREM2_000222" "g.39265467C>G" "" "" "" "FREM2(NM_207361.5):c.3986C>G (p.A1329G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691544" "0" "50" "13" "39266540" "39266540" "subst" "6.12165E-5" "01943" "FREM2_000041" "g.39266540G>T" "" "" "" "FREM2(NM_207361.4):c.5059G>T (p.?), FREM2(NM_207361.5):c.5059G>T (p.E1687*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691545" "0" "50" "13" "39266541" "39266541" "subst" "6.12295E-5" "01943" "FREM2_000042" "g.39266541A>C" "" "" "" "FREM2(NM_207361.4):c.5060A>C (p.(Glu1687Ala)), FREM2(NM_207361.5):c.5060A>C (p.E1687A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691546" "0" "30" "13" "39357198" "39357198" "subst" "0.0012149" "01943" "FREM2_000059" "g.39357198T>C" "" "" "" "FREM2(NM_207361.5):c.5642-9T>C, FREM2(NM_207361.6):c.5642-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691547" "0" "50" "13" "39424355" "39424355" "subst" "4.89269E-5" "01943" "FREM2_000223" "g.39424355T>A" "" "" "" "FREM2(NM_207361.5):c.6560T>A (p.I2187N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691548" "0" "10" "13" "39433531" "39433531" "subst" "0.0012108" "02326" "FREM2_000092" "g.39433531G>A" "" "" "" "FREM2(NM_207361.5):c.7323G>A (p.A2441=), FREM2(NM_207361.6):c.7323G>A (p.A2441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691549" "0" "30" "13" "39433560" "39433560" "subst" "8.12579E-6" "01943" "FREM2_000224" "g.39433560G>A" "" "" "" "FREM2(NM_207361.5):c.7352G>A (p.R2451K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691550" "0" "50" "13" "39453073" "39453073" "subst" "4.46748E-5" "01943" "FREM2_000225" "g.39453073G>A" "" "" "" "FREM2(NM_207361.5):c.8965G>A (p.G2989R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691551" "0" "30" "13" "39454652" "39454652" "subst" "0.000134226" "01943" "FREM2_000226" "g.39454652C>T" "" "" "" "FREM2(NM_207361.5):c.9238C>T (p.L3080=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724523" "0" "30" "13" "39261519" "39261519" "subst" "7.75334E-5" "01943" "FREM2_000227" "g.39261519G>A" "" "" "" "FREM2(NM_207361.5):c.38G>A (p.R13Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724524" "0" "30" "13" "39262731" "39262731" "subst" "0.00121453" "01943" "FREM2_000220" "g.39262731T>C" "" "" "" "FREM2(NM_207361.5):c.1250T>C (p.L417P), FREM2(NM_207361.6):c.1250T>C (p.L417P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724525" "0" "50" "13" "39262986" "39262986" "subst" "0.000167041" "02329" "FREM2_000010" "g.39262986C>T" "" "" "" "FREM2(NM_207361.6):c.1505C>T (p.S502F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724526" "0" "50" "13" "39263913" "39263913" "subst" "0.000179098" "02326" "FREM2_000200" "g.39263913G>A" "" "" "" "FREM2(NM_207361.4):c.2432G>A (p.(Gly811Glu)), FREM2(NM_207361.5):c.2432G>A (p.G811E), FREM2(NM_207361.6):c.2432G>A (p.G811E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724527" "0" "30" "13" "39263953" "39263953" "subst" "5.28047E-5" "01943" "FREM2_000228" "g.39263953C>T" "" "" "" "FREM2(NM_207361.5):c.2472C>T (p.P824=), FREM2(NM_207361.6):c.2472C>T (p.P824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724528" "0" "50" "13" "39264645" "39264645" "subst" "0" "01943" "FREM2_000229" "g.39264645T>A" "" "" "" "FREM2(NM_207361.5):c.3164T>A (p.I1055K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724529" "0" "30" "13" "39265512" "39265512" "subst" "0.0035947" "02326" "FREM2_000159" "g.39265512G>A" "" "" "" "FREM2(NM_207361.4):c.4031G>A (p.(Arg1344His)), FREM2(NM_207361.5):c.4031G>A (p.R1344H), FREM2(NM_207361.6):c.4031G>A (p.R1344H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724530" "0" "30" "13" "39266014" "39266014" "subst" "2.0401E-5" "01943" "FREM2_000230" "g.39266014C>T" "" "" "" "FREM2(NM_207361.5):c.4533C>T (p.V1511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724531" "0" "30" "13" "39271934" "39271934" "subst" "0.000109967" "01943" "FREM2_000231" "g.39271934C>T" "" "" "" "FREM2(NM_207361.5):c.5263+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724532" "0" "30" "13" "39338541" "39338541" "subst" "4.08513E-6" "01943" "FREM2_000232" "g.39338541T>A" "" "" "" "FREM2(NM_207361.5):c.5364T>A (p.D1788E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724533" "0" "50" "13" "39343738" "39343738" "subst" "0.000187165" "01943" "FREM2_000055" "g.39343738G>A" "" "" "" "FREM2(NM_207361.4):c.5434G>A (p.(Ala1812Thr)), FREM2(NM_207361.5):c.5434G>A (p.A1812T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724534" "0" "50" "13" "39435583" "39435583" "subst" "0.000491586" "01943" "FREM2_000233" "g.39435583G>A" "" "" "" "FREM2(NM_207361.5):c.7535G>A (p.R2512H), FREM2(NM_207361.6):c.7535G>A (p.(Arg2512His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724535" "0" "50" "13" "39438643" "39438643" "subst" "9.34564E-5" "01943" "FREM2_000234" "g.39438643G>A" "" "" "" "FREM2(NM_207361.5):c.7883G>A (p.R2628Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724536" "0" "50" "13" "39448670" "39448670" "subst" "0.00012186" "02329" "FREM2_000114" "g.39448670T>C" "" "" "" "FREM2(NM_207361.6):c.8228T>C (p.V2743A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724537" "0" "30" "13" "39450435" "39450435" "subst" "0.0022839" "02326" "FREM2_000116" "g.39450435C>G" "" "" "" "FREM2(NM_207361.5):c.8460C>G (p.A2820=), FREM2(NM_207361.6):c.8460C>G (p.A2820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724538" "0" "50" "13" "39453014" "39453014" "subst" "5.27983E-5" "01943" "FREM2_000235" "g.39453014T>C" "" "" "" "FREM2(NM_207361.5):c.8906T>C (p.L2969P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724539" "0" "90" "13" "39454433" "39454433" "subst" "0" "01943" "FREM2_000236" "g.39454433C>T" "" "" "" "FREM2(NM_207361.5):c.9019C>T (p.R3007*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724540" "0" "50" "13" "39454626" "39454626" "subst" "2.4394E-5" "01943" "FREM2_000237" "g.39454626G>A" "" "" "" "FREM2(NM_207361.5):c.9212G>A (p.R3071Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806174" "0" "30" "13" "39261565" "39261565" "subst" "0.00194312" "02326" "FREM2_000139" "g.39261565C>G" "" "" "" "FREM2(NM_207361.5):c.84C>G (p.P28=), FREM2(NM_207361.6):c.84C>G (p.P28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806175" "0" "30" "13" "39265449" "39265449" "subst" "7.71843E-5" "01943" "FREM2_000238" "g.39265449A>G" "" "" "" "FREM2(NM_207361.5):c.3968A>G (p.N1323S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806176" "0" "30" "13" "39266506" "39266506" "subst" "8.26146E-6" "01943" "FREM2_000239" "g.39266506G>A" "" "" "" "FREM2(NM_207361.5):c.5025G>A (p.L1675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806177" "0" "30" "13" "39343848" "39343848" "subst" "0.000374111" "02326" "FREM2_000240" "g.39343848G>A" "" "" "" "FREM2(NM_207361.6):c.5544G>A (p.E1848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806178" "0" "30" "13" "39425172" "39425172" "subst" "0.000349884" "01943" "FREM2_000241" "g.39425172A>G" "" "" "" "FREM2(NM_207361.5):c.6669A>G (p.Q2223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853671" "0" "50" "13" "39264381" "39264381" "subst" "0.000113706" "01943" "FREM2_000243" "g.39264381A>G" "" "" "" "FREM2(NM_207361.5):c.2900A>G (p.N967S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853672" "0" "50" "13" "39265748" "39265748" "subst" "0" "01943" "FREM2_000245" "g.39265748G>A" "" "" "" "FREM2(NM_207361.5):c.4267G>A (p.D1423N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853673" "0" "10" "13" "39266167" "39266167" "subst" "0.00342354" "02326" "FREM2_000246" "g.39266167T>C" "" "" "" "FREM2(NM_207361.6):c.4686T>C (p.D1562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853674" "0" "10" "13" "39266382" "39266382" "subst" "0.00219359" "02326" "FREM2_000038" "g.39266382C>T" "" "" "" "FREM2(NM_207361.5):c.4901C>T (p.T1634M), FREM2(NM_207361.6):c.4901C>T (p.(Thr1634Met), p.T1634M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853675" "0" "50" "13" "39357287" "39357287" "subst" "0.000117825" "01943" "FREM2_000247" "g.39357287G>A" "" "" "" "FREM2(NM_207361.5):c.5722G>A (p.G1908R), FREM2(NM_207361.6):c.5722G>A (p.(Gly1908Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853676" "0" "10" "13" "39430326" "39430326" "subst" "0.00165763" "02326" "FREM2_000085" "g.39430326T>C" "" "" "" "FREM2(NM_207361.6):c.6989T>C (p.V2330A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853677" "0" "30" "13" "39438408" "39438408" "subst" "4.49273E-5" "01943" "FREM2_000249" "g.39438408A>G" "" "" "" "FREM2(NM_207361.5):c.7652-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853678" "0" "30" "13" "39453026" "39453026" "subst" "0.000418328" "01943" "FREM2_000250" "g.39453026A>G" "" "" "" "FREM2(NM_207361.5):c.8918A>G (p.K2973R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853679" "0" "50" "13" "39454874" "39454874" "subst" "0" "01943" "FREM2_000251" "g.39454874G>A" "" "" "" "FREM2(NM_207361.5):c.9460G>A (p.E3154K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863382" "0" "30" "13" "39263907" "39263907" "subst" "1.6297E-5" "01943" "FREM2_000216" "g.39263907G>A" "" "" "" "FREM2(NM_207361.4):c.2426G>A (p.(Arg809Gln)), FREM2(NM_207361.5):c.2426G>A (p.R809Q), FREM2(NM_207361.6):c.2426G>A (p.R809Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863383" "0" "30" "13" "39263986" "39263986" "subst" "2.43669E-5" "01943" "FREM2_000242" "g.39263986C>T" "" "" "" "FREM2(NM_207361.5):c.2505C>T (p.T835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863384" "0" "50" "13" "39264884" "39264884" "subst" "0" "01943" "FREM2_000244" "g.39264884G>A" "" "" "" "FREM2(NM_207361.5):c.3403G>A (p.A1135T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863385" "0" "30" "13" "39433637" "39433637" "subst" "0.000829882" "02326" "FREM2_000180" "g.39433637C>T" "" "" "" "FREM2(NM_207361.5):c.7429C>T (p.R2477W), FREM2(NM_207361.6):c.7429C>T (p.(Arg2477Trp), p.R2477W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863386" "0" "10" "13" "39435563" "39435563" "dup" "0" "02326" "FREM2_000248" "g.39435563dup" "" "" "" "FREM2(NM_207361.6):c.7520-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891535" "0" "30" "13" "39261816" "39261816" "subst" "0.000413474" "02326" "FREM2_000252" "g.39261816A>G" "" "" "" "FREM2(NM_207361.6):c.335A>G (p.N112S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891536" "0" "30" "13" "39262669" "39262669" "subst" "0.0016917" "02326" "FREM2_000148" "g.39262669G>C" "" "" "" "FREM2(NM_207361.4):c.1188G>C (p.(Gln396His)), FREM2(NM_207361.6):c.1188G>C (p.Q396H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891537" "0" "30" "13" "39262769" "39262769" "subst" "2.84245E-5" "02326" "FREM2_000253" "g.39262769G>A" "" "" "" "FREM2(NM_207361.6):c.1288G>A (p.V430M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891538" "0" "30" "13" "39264459" "39264459" "subst" "0.00133191" "02326" "FREM2_000154" "g.39264459A>G" "" "" "" "FREM2(NM_207361.4):c.2978A>G (p.(Glu993Gly)), FREM2(NM_207361.6):c.2978A>G (p.E993G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891539" "0" "30" "13" "39265234" "39265234" "subst" "0.00186805" "02326" "FREM2_000254" "g.39265234C>T" "" "" "" "FREM2(NM_207361.6):c.3753C>T (p.S1251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891540" "0" "30" "13" "39265460" "39265460" "subst" "0.000836752" "02326" "FREM2_000207" "g.39265460T>A" "" "" "" "FREM2(NM_207361.6):c.3979T>A (p.L1327I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891541" "0" "30" "13" "39265800" "39265800" "subst" "0.00211185" "02326" "FREM2_000033" "g.39265800C>A" "" "" "" "FREM2(NM_207361.6):c.4319C>A (p.T1440K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891542" "0" "30" "13" "39266472" "39266472" "subst" "0.000632334" "02326" "FREM2_000039" "g.39266472C>T" "" "" "" "FREM2(NM_207361.6):c.4991C>T (p.A1664V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891543" "0" "30" "13" "39266590" "39266590" "subst" "0.00178921" "02326" "FREM2_000163" "g.39266590C>T" "" "" "" "FREM2(NM_207361.5):c.5109C>T (p.A1703=), FREM2(NM_207361.6):c.5109C>T (p.A1703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891544" "0" "30" "13" "39420726" "39420726" "subst" "0.00203192" "02326" "FREM2_000255" "g.39420726C>T" "" "" "" "FREM2(NM_207361.6):c.6036C>T (p.F2012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891545" "0" "30" "13" "39422744" "39422744" "subst" "1.62811E-5" "02326" "FREM2_000256" "g.39422744A>G" "" "" "" "FREM2(NM_207361.6):c.6316A>G (p.M2106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891546" "0" "30" "13" "39438400" "39438400" "subst" "6.13864E-5" "02326" "FREM2_000257" "g.39438400G>A" "" "" "" "FREM2(NM_207361.6):c.7652-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891547" "0" "50" "13" "39453002" "39453002" "subst" "0" "02329" "FREM2_000258" "g.39453002T>G" "" "" "" "FREM2(NM_207361.6):c.8894T>G (p.F2965C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891548" "0" "30" "13" "39454680" "39454680" "subst" "0.000716099" "02326" "FREM2_000259" "g.39454680A>G" "" "" "" "FREM2(NM_207361.6):c.9266A>G (p.H3089R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914102" "0" "30" "13" "39261586" "39261588" "dup" "0" "02326" "FREM2_000260" "g.39261586_39261588dup" "" "" "" "FREM2(NM_207361.6):c.105_107dupGCT (p.L38dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914103" "0" "30" "13" "39261590" "39261590" "subst" "0.00103211" "02326" "FREM2_000004" "g.39261590C>T" "" "" "" "FREM2(NM_207361.5):c.109C>T (p.L37F), FREM2(NM_207361.6):c.109C>T (p.L37F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914104" "0" "30" "13" "39262171" "39262171" "subst" "0.000142819" "02326" "FREM2_000261" "g.39262171T>C" "" "" "" "FREM2(NM_207361.6):c.690T>C (p.Y230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914105" "0" "30" "13" "39263907" "39263907" "subst" "1.6297E-5" "02326" "FREM2_000216" "g.39263907G>A" "" "" "" "FREM2(NM_207361.4):c.2426G>A (p.(Arg809Gln)), FREM2(NM_207361.5):c.2426G>A (p.R809Q), FREM2(NM_207361.6):c.2426G>A (p.R809Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914106" "0" "30" "13" "39422767" "39422767" "subst" "0.00226438" "02326" "FREM2_000262" "g.39422767C>T" "" "" "" "FREM2(NM_207361.6):c.6339C>T (p.P2113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914107" "0" "30" "13" "39454527" "39454527" "subst" "0.000511871" "02326" "FREM2_000263" "g.39454527T>C" "" "" "" "FREM2(NM_207361.6):c.9113T>C (p.V3038A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930254" "0" "30" "13" "39338531" "39338531" "subst" "0.000513741" "02326" "FREM2_000218" "g.39338531A>C" "" "" "" "FREM2(NM_207361.5):c.5354A>C (p.K1785T), FREM2(NM_207361.6):c.5354A>C (p.K1785T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950160" "0" "90" "13" "39263630" "39263630" "subst" "0" "02326" "FREM2_000264" "g.39263630C>T" "" "" "" "FREM2(NM_207361.6):c.2149C>T (p.Q717*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950161" "0" "30" "13" "39263953" "39263953" "subst" "5.28047E-5" "02326" "FREM2_000228" "g.39263953C>T" "" "" "" "FREM2(NM_207361.5):c.2472C>T (p.P824=), FREM2(NM_207361.6):c.2472C>T (p.P824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950162" "0" "30" "13" "39424191" "39424191" "subst" "0.00129856" "02326" "FREM2_000265" "g.39424191C>T" "" "" "" "FREM2(NM_207361.6):c.6396C>T (p.F2132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950163" "0" "30" "13" "39454452" "39454452" "subst" "0.00226347" "02326" "FREM2_000196" "g.39454452C>T" "" "" "" "FREM2(NM_207361.5):c.9038C>T (p.T3013M), FREM2(NM_207361.6):c.9038C>T (p.T3013M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950164" "0" "30" "13" "39454711" "39454711" "subst" "0.000187269" "02326" "FREM2_000205" "g.39454711C>T" "" "" "" "FREM2(NM_207361.5):c.9297C>T (p.P3099=), FREM2(NM_207361.6):c.9297C>T (p.P3099=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980680" "0" "50" "13" "39262041" "39262041" "subst" "0.000197108" "01804" "FREM2_000213" "g.39262041C>T" "" "" "" "FREM2(NM_207361.5):c.560C>T (p.P187L), FREM2(NM_207361.6):c.560C>T (p.(Pro187Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980681" "0" "50" "13" "39262088" "39262088" "subst" "4.27617E-6" "01804" "FREM2_000266" "g.39262088C>G" "" "" "" "FREM2(NM_207361.6):c.607C>G (p.(Arg203Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980682" "0" "50" "13" "39263913" "39263913" "subst" "0.000179098" "01804" "FREM2_000200" "g.39263913G>A" "" "" "" "FREM2(NM_207361.4):c.2432G>A (p.(Gly811Glu)), FREM2(NM_207361.5):c.2432G>A (p.G811E), FREM2(NM_207361.6):c.2432G>A (p.G811E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980683" "0" "10" "13" "39266382" "39266382" "subst" "0.00219359" "01804" "FREM2_000038" "g.39266382C>T" "" "" "" "FREM2(NM_207361.5):c.4901C>T (p.T1634M), FREM2(NM_207361.6):c.4901C>T (p.(Thr1634Met), p.T1634M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980684" "0" "30" "13" "39266471" "39266471" "subst" "0.000511646" "02326" "FREM2_000267" "g.39266471G>A" "" "" "" "FREM2(NM_207361.6):c.4990G>A (p.A1664T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980685" "0" "50" "13" "39357287" "39357287" "subst" "0.000117825" "01804" "FREM2_000247" "g.39357287G>A" "" "" "" "FREM2(NM_207361.5):c.5722G>A (p.G1908R), FREM2(NM_207361.6):c.5722G>A (p.(Gly1908Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980686" "0" "50" "13" "39424333" "39424333" "subst" "2.0381E-5" "01804" "FREM2_000268" "g.39424333C>T" "" "" "" "FREM2(NM_207361.6):c.6538C>T (p.(Arg2180Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980687" "0" "50" "13" "39433637" "39433637" "subst" "0.000829882" "01804" "FREM2_000180" "g.39433637C>T" "" "" "" "FREM2(NM_207361.5):c.7429C>T (p.R2477W), FREM2(NM_207361.6):c.7429C>T (p.(Arg2477Trp), p.R2477W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980688" "0" "10" "13" "39435563" "39435563" "del" "0" "01804" "FREM2_000100" "g.39435563del" "" "" "" "FREM2(NM_207361.6):c.7520-5del, FREM2(NM_207361.6):c.7520-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980689" "0" "50" "13" "39435583" "39435583" "subst" "0.000491586" "01804" "FREM2_000233" "g.39435583G>A" "" "" "" "FREM2(NM_207361.5):c.7535G>A (p.R2512H), FREM2(NM_207361.6):c.7535G>A (p.(Arg2512His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980690" "0" "30" "13" "39451289" "39451289" "subst" "0" "02326" "FREM2_000269" "g.39451289C>T" "" "" "" "FREM2(NM_207361.6):c.8580C>T (p.N2860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000594" "0" "50" "13" "39261653" "39261653" "subst" "0" "01804" "FREM2_000270" "g.39261653C>T" "" "" "" "FREM2(NM_207361.4):c.172C>T (p.(Pro58Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000595" "0" "30" "13" "39262826" "39262826" "subst" "0.000166545" "01804" "FREM2_000214" "g.39262826C>G" "" "" "" "FREM2(NM_207361.4):c.1345C>G (p.(Leu449Val)), FREM2(NM_207361.5):c.1345C>G (p.L449V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039705" "0" "90" "13" "39263687" "39263687" "subst" "4.07395E-6" "01804" "FREM2_000022" "g.39263687C>T" "" "" "" "FREM2(NM_207361.5):c.2206C>T (p.R736*), FREM2(NM_207361.6):c.2206C>T (p.(Arg736*), p.R736*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001039706" "0" "30" "13" "39265652" "39265652" "subst" "1.21833E-5" "01804" "FREM2_000271" "g.39265652C>T" "" "" "" "FREM2(NM_207361.6):c.4171C>T (p.(Arg1391Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039707" "0" "50" "13" "39265707" "39265707" "subst" "0" "01804" "FREM2_000272" "g.39265707A>C" "" "" "" "FREM2(NM_207361.6):c.4226A>C (p.(Tyr1409Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039708" "0" "30" "13" "39447075" "39447075" "subst" "0" "01804" "FREM2_000273" "g.39447075A>C" "" "" "" "FREM2(NM_207361.6):c.8176+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 FREM2 ## Count = 303 "{{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}}" "0000079396" "00008132" "00" "5940" "0" "5942" "0" "c.5940_5942del" "r.(?)" "p.(Leu1981del)" "" "0000179316" "00008132" "90" "6499" "0" "6499" "0" "c.6499C>T" "r.(?)" "p.(Arg2167Trp)" "9" "0000181177" "00008132" "70" "15" "0" "15" "0" "c.15del" "r.(15del)" "p.(Thr6Leufs*36)" "1" "0000251034" "00008132" "10" "7398" "0" "7398" "0" "c.7398A>G" "r.(?)" "p.(Thr2466=)" "" "0000251058" "00008132" "10" "5138" "0" "5138" "0" "c.5138A>G" "r.(?)" "p.(Asp1713Gly)" "" "0000251534" "00008132" "10" "5173" "75" "5173" "75" "c.5173+75A>T" "r.(=)" "p.(=)" "" "0000251535" "00008132" "10" "5642" "-19" "5642" "-19" "c.5642-19A>G" "r.(=)" "p.(=)" "" "0000251536" "00008132" "10" "5767" "97" "5767" "97" "c.5767+97A>C" "r.(=)" "p.(=)" "" "0000251537" "00008132" "10" "6020" "-149" "6020" "-149" "c.6020-149A>G" "r.(=)" "p.(=)" "" "0000251538" "00008132" "10" "6169" "112" "6169" "112" "c.6169+112A>G" "r.(=)" "p.(=)" "" "0000251539" "00008132" "10" "6925" "33" "6925" "33" "c.6925+33A>G" "r.(=)" "p.(=)" "" "0000251540" "00008132" "10" "7519" "62" "7519" "62" "c.7519+62A>G" "r.(=)" "p.(=)" "" "0000251541" "00008132" "10" "7519" "86" "7519" "86" "c.7519+86A>G" "r.(=)" "p.(=)" "" "0000251542" "00008132" "10" "8177" "-164" "8177" "-164" "c.8177-164A>G" "r.(=)" "p.(=)" "" "0000251543" "00008132" "10" "8282" "-20" "8282" "-20" "c.8282-20A>C" "r.(=)" "p.(=)" "" "0000251544" "00008132" "10" "8544" "65" "8544" "65" "c.8544+65A>T" "r.(=)" "p.(=)" "" "0000251545" "00008132" "10" "8671" "177" "8671" "177" "c.8671+177A>T" "r.(=)" "p.(=)" "" "0000251546" "00008132" "10" "8859" "85" "8859" "85" "c.8859+85A>G" "r.(=)" "p.(=)" "" "0000251547" "00008132" "10" "8859" "87" "8859" "87" "c.8859+87A>G" "r.(=)" "p.(=)" "" "0000251548" "00008132" "10" "8859" "96" "8859" "96" "c.8859+96A>C" "r.(=)" "p.(=)" "" "0000251549" "00008132" "10" "8859" "99" "8859" "99" "c.8859+99A>G" "r.(=)" "p.(=)" "" "0000251550" "00008132" "10" "9006" "159" "9006" "159" "c.9006+159A>G" "r.(=)" "p.(=)" "" "0000251971" "00008132" "30" "3271" "0" "3271" "0" "c.3271A>G" "r.(?)" "p.(Ser1091Gly)" "" "0000252226" "00008132" "30" "6170" "-91" "6170" "-91" "c.6170-91A>G" "r.(=)" "p.(=)" "" "0000252376" "00008132" "70" "6537" "0" "6537" "0" "c.6537A>C" "r.(?)" "p.(Glu2179Asp)" "" "0000252431" "00008132" "70" "4654" "0" "4654" "0" "c.4654A>C" "r.(?)" "p.(Thr1552Pro)" "" "0000252678" "00008132" "50" "1472" "0" "1472" "0" "c.1472A>G" "r.(?)" "p.(His491Arg)" "" "0000252758" "00008132" "50" "5162" "0" "5162" "0" "c.5162A>C" "r.(?)" "p.(Gln1721Pro)" "" "0000280902" "00008132" "10" "2233" "0" "2233" "0" "c.2233T>C" "r.(?)" "p.(Ser745Pro)" "" "0000280903" "00008132" "10" "2250" "0" "2250" "0" "c.2250C>T" "r.(?)" "p.(Asp750=)" "" "0000280904" "00008132" "10" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(Glu192=)" "" "0000280905" "00008132" "10" "6977" "0" "6977" "0" "c.6977C>T" "r.(?)" "p.(Thr2326Ile)" "" "0000284355" "00008132" "10" "1542" "0" "1542" "0" "c.1542C>T" "r.(?)" "p.(Ala514=)" "" "0000284356" "00008132" "10" "1941" "0" "1941" "0" "c.1941C>T" "r.(?)" "p.(Asp647=)" "" "0000284357" "00008132" "10" "1959" "0" "1959" "0" "c.1959G>T" "r.(?)" "p.(Leu653=)" "" "0000284358" "00008132" "10" "2128" "0" "2128" "0" "c.2128C>T" "r.(?)" "p.(Arg710Cys)" "" "0000284359" "00008132" "10" "2165" "0" "2165" "0" "c.2165G>A" "r.(?)" "p.(Arg722Lys)" "" "0000284360" "00008132" "90" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Arg736Ter)" "" "0000284361" "00008132" "10" "2233" "0" "2233" "0" "c.2233T>C" "r.(?)" "p.(Ser745Pro)" "" "0000284362" "00008132" "50" "2233" "0" "2233" "0" "c.2233T>G" "r.(?)" "p.(Ser745Ala)" "" "0000284363" "00008132" "10" "2250" "0" "2250" "0" "c.2250C>T" "r.(?)" "p.(Asp750=)" "" "0000284364" "00008132" "10" "2602" "0" "2602" "0" "c.2602C>G" "r.(?)" "p.(Leu868Val)" "" "0000284365" "00008132" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0000284366" "00008132" "10" "3209" "0" "3209" "0" "c.3209T>C" "r.(?)" "p.(Phe1070Ser)" "" "0000284367" "00008132" "90" "3931" "0" "3931" "0" "c.3931G>T" "r.(?)" "p.(Gly1311Ter)" "" "0000284368" "00008132" "10" "4077" "0" "4077" "0" "c.4077T>A" "r.(?)" "p.(Gly1359=)" "" "0000284369" "00008132" "90" "4396" "0" "4396" "0" "c.4396C>T" "r.(?)" "p.(Arg1466Ter)" "" "0000284370" "00008132" "70" "4849" "0" "4849" "0" "c.4849T>C" "r.(?)" "p.(Ser1617Pro)" "" "0000284371" "00008132" "10" "5003" "0" "5003" "0" "c.5003G>A" "r.(?)" "p.(Arg1668His)" "" "0000284372" "00008132" "50" "5119" "0" "5119" "0" "c.5119G>A" "r.(?)" "p.(Gly1707Arg)" "" "0000284373" "00008132" "50" "5166" "0" "5166" "0" "c.5166C>A" "r.(?)" "p.(Phe1722Leu)" "" "0000284374" "00008132" "50" "5173" "1" "5173" "1" "c.5173+1G>T" "r.spl?" "p.?" "" "0000284375" "00008132" "10" "5173" "208" "5173" "208" "c.5173+208T>C" "r.(=)" "p.(=)" "" "0000284376" "00008132" "10" "5263" "154" "5263" "154" "c.5263+154C>G" "r.(=)" "p.(=)" "" "0000284377" "00008132" "90" "5263" "2" "5263" "2" "c.5263+2T>C" "r.spl?" "p.?" "" "0000284378" "00008132" "50" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Gln178Ter)" "" "0000284379" "00008132" "10" "5410" "25" "5410" "25" "c.5410+25T>C" "r.(=)" "p.(=)" "" "0000284380" "00008132" "30" "5417" "0" "5417" "0" "c.5417G>A" "r.(?)" "p.(Gly1806Asp)" "" "0000284381" "00008132" "10" "5518" "0" "5518" "0" "c.5518C>T" "r.(?)" "p.(Arg1840Trp)" "" "0000284382" "00008132" "10" "5642" "-9" "5642" "-9" "c.5642-9T>C" "r.(=)" "p.(=)" "" "0000284384" "00008132" "10" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(Glu192=)" "" "0000284385" "00008132" "90" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Glu1972Lys)" "" "0000284386" "00008132" "90" "5917" "0" "5917" "0" "c.5917G>T" "r.(?)" "p.(Glu1973Ter)" "" "0000284387" "00008132" "10" "6019" "22356" "6019" "22356" "c.6019+22356C>A" "r.(=)" "p.(=)" "" "0000284388" "00008132" "10" "6020" "-111" "6020" "-111" "c.6020-111G>A" "r.(=)" "p.(=)" "" "0000284389" "00008132" "10" "6169" "64" "6169" "64" "c.6169+64T>G" "r.(=)" "p.(=)" "" "0000284390" "00008132" "30" "6170" "-90" "6170" "-90" "c.6170-90G>A" "r.(=)" "p.(=)" "" "0000284391" "00008132" "30" "6196" "0" "6196" "0" "c.6196C>T" "r.(?)" "p.(Arg2066Cys)" "" "0000284392" "00008132" "10" "6379" "38" "6379" "38" "c.6379+38T>G" "r.(=)" "p.(=)" "" "0000284393" "00008132" "30" "6380" "-40" "6380" "-40" "c.6380-40C>G" "r.(=)" "p.(=)" "" "0000284394" "00008132" "70" "6394" "0" "6394" "0" "c.6394T>G" "r.(?)" "p.(Phe2132Val)" "" "0000284395" "00008132" "10" "6458" "0" "6458" "0" "c.6458C>G" "r.(?)" "p.(Thr2153Ser)" "" "0000284396" "00008132" "10" "6459" "0" "6459" "0" "c.6459T>C" "r.(?)" "p.(Thr2153=)" "" "0000284397" "00008132" "70" "6499" "0" "6499" "0" "c.6499C>T" "r.(?)" "p.(Arg2167Trp)" "" "0000284398" "00008132" "10" "6578" "-203" "6578" "-203" "c.6578-203G>A" "r.(=)" "p.(=)" "" "0000284399" "00008132" "10" "6826" "0" "6826" "0" "c.6826G>A" "r.(?)" "p.(Val2276Met)" "" "0000284400" "00008132" "10" "6977" "0" "6977" "0" "c.6977C>T" "r.(?)" "p.(Thr2326Ile)" "" "0000284401" "00008132" "50" "7013" "0" "7013" "0" "c.7013C>T" "r.(?)" "p.(Thr2338Ile)" "" "0000284402" "00008132" "10" "7056" "50" "7056" "50" "c.7056+50G>A" "r.(=)" "p.(=)" "" "0000284403" "00008132" "10" "7057" "-177" "7057" "-177" "c.7057-177C>T" "r.(=)" "p.(=)" "" "0000284404" "00008132" "10" "7057" "-67" "7057" "-67" "c.7057-67T>C" "r.(=)" "p.(=)" "" "0000284405" "00008132" "90" "7215" "2" "7215" "2" "c.7215+2T>C" "r.spl?" "p.?" "" "0000284406" "00008132" "10" "7216" "-52" "7216" "-52" "c.7216-52C>T" "r.(=)" "p.(=)" "" "0000284407" "00008132" "50" "7519" "1" "7519" "1" "c.7519+1G>A" "r.spl?" "p.?" "" "0000284408" "00008132" "10" "7520" "-10" "7520" "-9" "c.7520-10_7520-9insCT" "r.(=)" "p.(=)" "" "0000284410" "00008132" "10" "7520" "-143" "7520" "-143" "c.7520-143G>A" "r.(=)" "p.(=)" "" "0000284411" "00008132" "10" "7520" "-5" "7520" "-5" "c.7520-5del" "r.spl?" "p.?" "" "0000284412" "00008132" "10" "7520" "-16" "7520" "-15" "c.7520-16_7520-15insG" "r.(=)" "p.(=)" "" "0000284413" "00008132" "30" "7520" "-15" "7520" "-15" "c.7520-15T>G" "r.(=)" "p.(=)" "" "0000284414" "00008132" "10" "7590" "0" "7590" "0" "c.7590C>T" "r.(?)" "p.(Gly2530=)" "" "0000284415" "00008132" "10" "7651" "184" "7651" "184" "c.7651+184G>A" "r.(=)" "p.(=)" "" "0000284416" "00008132" "10" "7651" "72" "7651" "72" "c.7651+72C>T" "r.(=)" "p.(=)" "" "0000284417" "00008132" "10" "7652" "-152" "7652" "-152" "c.7652-152C>T" "r.(=)" "p.(=)" "" "0000284418" "00008132" "10" "7652" "-189" "7652" "-189" "c.7652-189C>T" "r.(=)" "p.(=)" "" "0000284419" "00008132" "10" "7652" "-29" "7652" "-29" "c.7652-29C>A" "r.(=)" "p.(=)" "" "0000284420" "00008132" "10" "7984" "-10" "7984" "-10" "c.7984-10G>A" "r.(=)" "p.(=)" "" "0000284421" "00008132" "90" "8544" "1" "8544" "1" "c.8544+1G>T" "r.spl?" "p.?" "" "0000284422" "00008132" "10" "8672" "-36" "8672" "-36" "c.8672-36T>C" "r.(=)" "p.(=)" "" "0000284425" "00008132" "10" "8860" "-34" "8860" "-34" "c.8860-34C>T" "r.(=)" "p.(=)" "" "0000284426" "00008132" "30" "8902" "0" "8902" "0" "c.8902G>A" "r.(?)" "p.(Val2968Ile)" "" "0000284427" "00008132" "90" "9226" "0" "9226" "0" "c.9226C>T" "r.(?)" "p.(Gln3076Ter)" "" "0000284428" "00008132" "10" "9357" "0" "9357" "0" "c.9357G>C" "r.(?)" "p.(Thr3119=)" "" "0000284429" "00008132" "30" "9429" "0" "9429" "0" "c.9429G>A" "r.(?)" "p.(Gly3143=)" "" "0000287918" "00008132" "50" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(Arg535=)" "" "0000287919" "00008132" "50" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Cys)" "" "0000287920" "00008132" "10" "4901" "0" "4901" "0" "c.4901C>T" "r.(?)" "p.(Thr1634Met)" "" "0000287921" "00008132" "50" "6071" "0" "6071" "0" "c.6071G>A" "r.(?)" "p.(Gly2024Asp)" "" "0000287922" "00008132" "30" "7323" "0" "7323" "0" "c.7323G>A" "r.(?)" "p.(Ala2441=)" "" "0000287923" "00008132" "30" "7335" "0" "7335" "0" "c.7335T>C" "r.(?)" "p.(Gly2445=)" "" "0000287924" "00008132" "30" "8460" "0" "8460" "0" "c.8460C>G" "r.(?)" "p.(Ala2820=)" "" "0000287925" "00008132" "30" "9010" "0" "9010" "0" "c.9010G>A" "r.(?)" "p.(Ala3004Thr)" "" "0000323361" "00008132" "50" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Pro82Leu)" "" "0000323363" "00008132" "50" "1677" "0" "1677" "0" "c.1677G>C" "r.(?)" "p.(Gln559His)" "" "0000323365" "00008132" "50" "2053" "0" "2053" "0" "c.2053G>A" "r.(?)" "p.(Gly685Arg)" "" "0000323367" "00008132" "30" "2128" "0" "2128" "0" "c.2128C>T" "r.(?)" "p.(Arg710Cys)" "" "0000323370" "00008132" "50" "4432" "0" "4432" "0" "c.4432T>C" "r.(?)" "p.(Ser1478Pro)" "" "0000323372" "00008132" "50" "5059" "0" "5059" "0" "c.5059G>T" "r.(?)" "p.(Glu1687Ter)" "" "0000323373" "00008132" "50" "5060" "0" "5060" "0" "c.5060A>C" "r.(?)" "p.(Glu1687Ala)" "" "0000323375" "00008132" "50" "5434" "0" "5434" "0" "c.5434G>A" "r.(?)" "p.(Ala1812Thr)" "" "0000323377" "00008132" "50" "6067" "0" "6067" "0" "c.6067G>A" "r.(?)" "p.(Ala2023Thr)" "" "0000323380" "00008132" "50" "6857" "0" "6857" "0" "c.6857C>G" "r.(?)" "p.(Ser2286Cys)" "" "0000323382" "00008132" "30" "7757" "0" "7757" "0" "c.7757A>G" "r.(?)" "p.(Tyr2586Cys)" "" "0000323384" "00008132" "30" "8902" "0" "8902" "0" "c.8902G>A" "r.(?)" "p.(Val2968Ile)" "" "0000350236" "00008132" "50" "3158" "0" "3158" "0" "c.3158T>G" "r.(?)" "p.(Val1053Gly)" "" "0000350705" "00008132" "50" "2987" "0" "2987" "0" "c.2987T>A" "r.(?)" "p.(Val996Asp)" "" "0000550750" "00008132" "30" "84" "0" "84" "0" "c.84C>G" "r.(?)" "p.(Pro28=)" "" "0000550752" "00008132" "30" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Gly59Asp)" "" "0000550753" "00008132" "30" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Val99Ala)" "" "0000550754" "00008132" "50" "305" "0" "305" "0" "c.305G>C" "r.(?)" "p.(Gly102Ala)" "" "0000550755" "00008132" "50" "467" "0" "467" "0" "c.467G>T" "r.(?)" "p.(Arg156Leu)" "" "0000550756" "00008132" "50" "532" "0" "532" "0" "c.532C>A" "r.(?)" "p.(Gln178Lys)" "" "0000550757" "00008132" "30" "638" "0" "638" "0" "c.638C>T" "r.(?)" "p.(Thr213Ile)" "" "0000550758" "00008132" "30" "704" "0" "704" "0" "c.704A>G" "r.(?)" "p.(His235Arg)" "" "0000550759" "00008132" "30" "1188" "0" "1188" "0" "c.1188G>C" "r.(?)" "p.(Gln396His)" "" "0000550760" "00008132" "10" "1518" "0" "1518" "0" "c.1518C>T" "r.(?)" "p.(Ser506=)" "" "0000550762" "00008132" "50" "2128" "0" "2128" "0" "c.2128C>T" "r.(?)" "p.(Arg710Cys)" "" "0000550764" "00008132" "90" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Arg736Ter)" "" "0000550765" "00008132" "30" "2308" "0" "2308" "0" "c.2308G>A" "r.(?)" "p.(Val770Met)" "" "0000550766" "00008132" "10" "2308" "0" "2308" "0" "c.2308G>A" "r.(?)" "p.(Val770Met)" "" "0000550767" "00008132" "50" "2504" "0" "2504" "0" "c.2504C>A" "r.(?)" "p.(Thr835Asn)" "" "0000550769" "00008132" "30" "2646" "0" "2646" "0" "c.2646G>T" "r.(?)" "p.(Gln882His)" "" "0000550770" "00008132" "30" "2978" "0" "2978" "0" "c.2978A>G" "r.(?)" "p.(Glu993Gly)" "" "0000550772" "00008132" "30" "3266" "0" "3266" "0" "c.3266A>T" "r.(?)" "p.(His1089Leu)" "" "0000550773" "00008132" "30" "3677" "0" "3677" "0" "c.3677C>G" "r.(?)" "p.(Thr1226Ser)" "" "0000550774" "00008132" "50" "3929" "0" "3929" "0" "c.3929A>G" "r.(?)" "p.(Asn1310Ser)" "" "0000550775" "00008132" "30" "4031" "0" "4031" "0" "c.4031G>A" "r.(?)" "p.(Arg1344His)" "" "0000550777" "00008132" "30" "4726" "0" "4726" "0" "c.4726C>G" "r.(?)" "p.(Pro1576Ala)" "" "0000550778" "00008132" "30" "4730" "0" "4730" "0" "c.4730T>C" "r.(?)" "p.(Ile1577Thr)" "" "0000550779" "00008132" "30" "5109" "0" "5109" "0" "c.5109C>T" "r.(?)" "p.(Ala1703=)" "" "0000550780" "00008132" "30" "5138" "0" "5138" "0" "c.5138A>G" "r.(?)" "p.(Asp1713Gly)" "" "0000550781" "00008132" "50" "5143" "0" "5143" "0" "c.5143G>A" "r.(?)" "p.(Gly1715Ser)" "" "0000550782" "00008132" "50" "5264" "-5" "5264" "-5" "c.5264-5T>G" "r.spl?" "p.?" "" "0000550783" "00008132" "30" "5280" "0" "5280" "0" "c.5280G>A" "r.(?)" "p.(Thr1760=)" "" "0000550784" "00008132" "50" "5286" "0" "5286" "0" "c.5286G>T" "r.(?)" "p.(Gln1762His)" "" "0000550785" "00008132" "50" "5417" "0" "5417" "0" "c.5417G>A" "r.(?)" "p.(Gly1806Asp)" "" "0000550787" "00008132" "50" "5484" "0" "5484" "0" "c.5484C>G" "r.(?)" "p.(Phe1828Leu)" "" "0000550788" "00008132" "90" "5752" "0" "5752" "0" "c.5752dup" "r.(?)" "p.(Cys1918LeufsTer21)" "" "0000550790" "00008132" "10" "6020" "-47" "6020" "-47" "c.6020-47T>C" "r.(=)" "p.(=)" "" "0000550791" "00008132" "50" "6201" "0" "6201" "0" "c.6201T>A" "r.(?)" "p.(Asn2067Lys)" "" "0000550792" "00008132" "50" "6334" "0" "6334" "0" "c.6334G>A" "r.(?)" "p.(Glu2112Lys)" "" "0000550793" "00008132" "50" "6646" "0" "6646" "0" "c.6646C>T" "r.(?)" "p.(Arg2216Cys)" "" "0000550794" "00008132" "30" "6674" "0" "6674" "0" "c.6674A>G" "r.(?)" "p.(Asn2225Ser)" "" "0000550795" "00008132" "30" "6807" "0" "6807" "0" "c.6807G>A" "r.(?)" "p.(Ser2269=)" "" "0000550796" "00008132" "30" "6826" "0" "6826" "0" "c.6826G>A" "r.(?)" "p.(Val2276Met)" "" "0000550797" "00008132" "50" "6878" "0" "6878" "0" "c.6878A>G" "r.(?)" "p.(Lys2293Arg)" "" "0000550798" "00008132" "30" "7062" "0" "7062" "0" "c.7062G>A" "r.(?)" "p.(Thr2354=)" "" "0000550799" "00008132" "10" "7068" "0" "7068" "0" "c.7068C>T" "r.(?)" "p.(Ala2356=)" "" "0000550801" "00008132" "50" "7389" "0" "7389" "0" "c.7389G>T" "r.(?)" "p.(Lys2463Asn)" "" "0000550802" "00008132" "50" "7429" "0" "7429" "0" "c.7429C>T" "r.(?)" "p.(Arg2477Trp)" "" "0000550804" "00008132" "10" "7520" "-9" "7520" "-8" "c.7520-9_7520-8insCT" "r.(=)" "p.(=)" "" "0000550805" "00008132" "10" "7520" "-6" "7520" "-6" "c.7520-6T>C" "r.(=)" "p.(=)" "" "0000550807" "00008132" "30" "7520" "-4" "7520" "0" "c.7520-4_7520del" "r.spl?" "p.?" "" "0000550808" "00008132" "30" "7521" "0" "7522" "0" "c.7521_7522insTTTTT" "r.(?)" "p.(Leu2508PhefsTer44)" "" "0000550809" "00008132" "30" "7522" "0" "7522" "0" "c.7522C>T" "r.(?)" "p.(Leu2508Phe)" "" "0000550810" "00008132" "10" "7590" "0" "7590" "0" "c.7590C>T" "r.(?)" "p.(Gly2530=)" "" "0000550811" "00008132" "50" "7663" "0" "7663" "0" "c.7663G>T" "r.(?)" "p.(Val2555Leu)" "" "0000550813" "00008132" "30" "8172" "0" "8172" "0" "c.8172T>A" "r.(?)" "p.(Leu2724=)" "" "0000550814" "00008132" "30" "8628" "0" "8628" "0" "c.8628A>T" "r.(?)" "p.(Gly2876=)" "" "0000550815" "00008132" "10" "8859" "82" "8859" "83" "c.8859+82_8859+83insCCGG" "r.(=)" "p.(=)" "" "0000550816" "00008132" "10" "8859" "95" "8859" "96" "c.8859+95_8859+96insG" "r.(=)" "p.(=)" "" "0000550817" "00008132" "10" "8860" "-168" "8860" "-168" "c.8860-168C>T" "r.(=)" "p.(=)" "" "0000550818" "00008132" "30" "8885" "0" "8885" "0" "c.8885C>T" "r.(?)" "p.(Ala2962Val)" "" "0000550819" "00008132" "90" "9015" "0" "9015" "0" "c.9015dup" "r.(?)" "p.(Gly3006ArgfsTer63)" "" "0000550820" "00008132" "50" "9038" "0" "9038" "0" "c.9038C>T" "r.(?)" "p.(Thr3013Met)" "" "0000550822" "00008132" "10" "9184" "0" "9184" "0" "c.9184G>T" "r.(?)" "p.(Ala3062Ser)" "" "0000614645" "00008132" "50" "182" "0" "182" "0" "c.182C>A" "r.(?)" "p.(Ala61Glu)" "" "0000614646" "00008132" "50" "2432" "0" "2432" "0" "c.2432G>A" "r.(?)" "p.(Gly811Glu)" "" "0000614647" "00008132" "30" "4530" "0" "4530" "0" "c.4530A>G" "r.(?)" "p.(Gln1510=)" "" "0000614648" "00008132" "50" "5309" "0" "5314" "0" "c.5309_5314dup" "r.(?)" "p.(Trp1770_Ile1771dup)" "" "0000614649" "00008132" "50" "6614" "0" "6614" "0" "c.6614A>G" "r.(?)" "p.(Asp2205Gly)" "" "0000614650" "00008132" "30" "9297" "0" "9297" "0" "c.9297C>T" "r.(?)" "p.(Pro3099=)" "" "0000623063" "00008132" "50" "1580" "0" "1580" "0" "c.1580C>T" "r.(?)" "p.(Ser527Leu)" "" "0000623064" "00008132" "70" "9097" "0" "9097" "0" "c.9097G>T" "r.(?)" "p.(Glu3033Ter)" "" "0000648785" "00008132" "50" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Arg535Cys)" "" "0000648787" "00008132" "50" "3979" "0" "3979" "0" "c.3979T>A" "r.(?)" "p.(Leu1327Ile)" "" "0000648788" "00008132" "50" "4031" "0" "4031" "0" "c.4031G>A" "r.(?)" "p.(Arg1344His)" "" "0000648789" "00008132" "50" "4319" "0" "4319" "0" "c.4319C>A" "r.(?)" "p.(Thr1440Lys)" "" "0000648790" "00008132" "50" "5789" "0" "5789" "0" "c.5789C>T" "r.(?)" "p.(Pro1930Leu)" "" "0000657304" "00008132" "50" "5884" "0" "5884" "0" "c.5884C>T" "r.(?)" "p.(Arg1962Trp)" "" "0000669226" "00008132" "50" "4319" "0" "4319" "0" "c.4319C>A" "r.(?)" "p.(Thr1440Lys)" "" "0000679809" "00008132" "30" "477" "0" "477" "0" "c.477G>T" "r.(?)" "p.(Ala159=)" "" "0000679810" "00008132" "50" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Pro187Leu)" "" "0000679811" "00008132" "50" "1345" "0" "1345" "0" "c.1345C>G" "r.(?)" "p.(Leu449Val)" "" "0000679812" "00008132" "50" "1364" "0" "1364" "0" "c.1364G>A" "r.(?)" "p.(Arg455Gln)" "" "0000679813" "00008132" "50" "2426" "0" "2426" "0" "c.2426G>A" "r.(?)" "p.(Arg809Gln)" "" "0000679814" "00008132" "30" "4031" "0" "4031" "0" "c.4031G>A" "r.(?)" "p.(Arg1344His)" "" "0000679815" "00008132" "30" "4960" "0" "4960" "0" "c.4960A>C" "r.(?)" "p.(Ser1654Arg)" "" "0000679816" "00008132" "50" "5354" "0" "5354" "0" "c.5354A>C" "r.(?)" "p.(Lys1785Thr)" "" "0000679817" "00008132" "50" "9044" "0" "9044" "0" "c.9044A>G" "r.(?)" "p.(Tyr3015Cys)" "" "0000682824" "00008132" "50" "8789" "0" "8789" "0" "c.8789A>G" "r.(?)" "p.(Tyr2930Cys)" "" "0000682825" "00008132" "50" "6819" "0" "6819" "0" "c.6819A>C" "r.(?)" "p.(Arg2273Ser)" "" "0000691540" "00008132" "50" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Leu37Phe)" "" "0000691541" "00008132" "30" "1250" "0" "1250" "0" "c.1250T>C" "r.(?)" "p.(Leu417Pro)" "" "0000691542" "00008132" "50" "2473" "0" "2473" "0" "c.2473G>A" "r.(?)" "p.(Val825Met)" "" "0000691543" "00008132" "50" "3986" "0" "3986" "0" "c.3986C>G" "r.(?)" "p.(Ala1329Gly)" "" "0000691544" "00008132" "50" "5059" "0" "5059" "0" "c.5059G>T" "r.(?)" "p.(Glu1687Ter)" "" "0000691545" "00008132" "50" "5060" "0" "5060" "0" "c.5060A>C" "r.(?)" "p.(Glu1687Ala)" "" "0000691546" "00008132" "30" "5642" "-9" "5642" "-9" "c.5642-9T>C" "r.(=)" "p.(=)" "" "0000691547" "00008132" "50" "6560" "0" "6560" "0" "c.6560T>A" "r.(?)" "p.(Ile2187Asn)" "" "0000691548" "00008132" "10" "7323" "0" "7323" "0" "c.7323G>A" "r.(?)" "p.(Ala2441=)" "" "0000691549" "00008132" "30" "7352" "0" "7352" "0" "c.7352G>A" "r.(?)" "p.(Arg2451Lys)" "" "0000691550" "00008132" "50" "8965" "0" "8965" "0" "c.8965G>A" "r.(?)" "p.(Gly2989Arg)" "" "0000691551" "00008132" "30" "9238" "0" "9238" "0" "c.9238C>T" "r.(?)" "p.(Leu3080=)" "" "0000724523" "00008132" "30" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13Gln)" "" "0000724524" "00008132" "30" "1250" "0" "1250" "0" "c.1250T>C" "r.(?)" "p.(Leu417Pro)" "" "0000724525" "00008132" "50" "1505" "0" "1505" "0" "c.1505C>T" "r.(?)" "p.(Ser502Phe)" "" "0000724526" "00008132" "50" "2432" "0" "2432" "0" "c.2432G>A" "r.(?)" "p.(Gly811Glu)" "" "0000724527" "00008132" "30" "2472" "0" "2472" "0" "c.2472C>T" "r.(?)" "p.(Pro824=)" "" "0000724528" "00008132" "50" "3164" "0" "3164" "0" "c.3164T>A" "r.(?)" "p.(Ile1055Lys)" "" "0000724529" "00008132" "30" "4031" "0" "4031" "0" "c.4031G>A" "r.(?)" "p.(Arg1344His)" "" "0000724530" "00008132" "30" "4533" "0" "4533" "0" "c.4533C>T" "r.(?)" "p.(Val1511=)" "" "0000724531" "00008132" "30" "5263" "10" "5263" "10" "c.5263+10C>T" "r.(=)" "p.(=)" "" "0000724532" "00008132" "30" "5364" "0" "5364" "0" "c.5364T>A" "r.(?)" "p.(Asp1788Glu)" "" "0000724533" "00008132" "50" "5434" "0" "5434" "0" "c.5434G>A" "r.(?)" "p.(Ala1812Thr)" "" "0000724534" "00008132" "50" "7535" "0" "7535" "0" "c.7535G>A" "r.(?)" "p.(Arg2512His)" "" "0000724535" "00008132" "50" "7883" "0" "7883" "0" "c.7883G>A" "r.(?)" "p.(Arg2628Gln)" "" "0000724536" "00008132" "50" "8228" "0" "8228" "0" "c.8228T>C" "r.(?)" "p.(Val2743Ala)" "" "0000724537" "00008132" "30" "8460" "0" "8460" "0" "c.8460C>G" "r.(?)" "p.(Ala2820=)" "" "0000724538" "00008132" "50" "8906" "0" "8906" "0" "c.8906T>C" "r.(?)" "p.(Leu2969Pro)" "" "0000724539" "00008132" "90" "9019" "0" "9019" "0" "c.9019C>T" "r.(?)" "p.(Arg3007*)" "" "0000724540" "00008132" "50" "9212" "0" "9212" "0" "c.9212G>A" "r.(?)" "p.(Arg3071Gln)" "" "0000806174" "00008132" "30" "84" "0" "84" "0" "c.84C>G" "r.(?)" "p.(Pro28=)" "" "0000806175" "00008132" "30" "3968" "0" "3968" "0" "c.3968A>G" "r.(?)" "p.(Asn1323Ser)" "" "0000806176" "00008132" "30" "5025" "0" "5025" "0" "c.5025G>A" "r.(?)" "p.(Leu1675=)" "" "0000806177" "00008132" "30" "5544" "0" "5544" "0" "c.5544G>A" "r.(?)" "p.(Glu1848=)" "" "0000806178" "00008132" "30" "6669" "0" "6669" "0" "c.6669A>G" "r.(?)" "p.(Gln2223=)" "" "0000853671" "00008132" "50" "2900" "0" "2900" "0" "c.2900A>G" "r.(?)" "p.(Asn967Ser)" "" "0000853672" "00008132" "50" "4267" "0" "4267" "0" "c.4267G>A" "r.(?)" "p.(Asp1423Asn)" "" "0000853673" "00008132" "10" "4686" "0" "4686" "0" "c.4686T>C" "r.(?)" "p.(Asp1562=)" "" "0000853674" "00008132" "10" "4901" "0" "4901" "0" "c.4901C>T" "r.(?)" "p.(Thr1634Met)" "" "0000853675" "00008132" "50" "5722" "0" "5722" "0" "c.5722G>A" "r.(?)" "p.(Gly1908Arg)" "" "0000853676" "00008132" "10" "6989" "0" "6989" "0" "c.6989T>C" "r.(?)" "p.(Val2330Ala)" "" "0000853677" "00008132" "30" "7652" "-4" "7652" "-4" "c.7652-4A>G" "r.spl?" "p.?" "" "0000853678" "00008132" "30" "8918" "0" "8918" "0" "c.8918A>G" "r.(?)" "p.(Lys2973Arg)" "" "0000853679" "00008132" "50" "9460" "0" "9460" "0" "c.9460G>A" "r.(?)" "p.(Glu3154Lys)" "" "0000863382" "00008132" "30" "2426" "0" "2426" "0" "c.2426G>A" "r.(?)" "p.(Arg809Gln)" "" "0000863383" "00008132" "30" "2505" "0" "2505" "0" "c.2505C>T" "r.(?)" "p.(Thr835=)" "" "0000863384" "00008132" "50" "3403" "0" "3403" "0" "c.3403G>A" "r.(?)" "p.(Ala1135Thr)" "" "0000863385" "00008132" "30" "7429" "0" "7429" "0" "c.7429C>T" "r.(?)" "p.(Arg2477Trp)" "" "0000863386" "00008132" "10" "7520" "-5" "7520" "-5" "c.7520-5dup" "r.spl?" "p.?" "" "0000891535" "00008132" "30" "335" "0" "335" "0" "c.335A>G" "r.(?)" "p.(Asn112Ser)" "" "0000891536" "00008132" "30" "1188" "0" "1188" "0" "c.1188G>C" "r.(?)" "p.(Gln396His)" "" "0000891537" "00008132" "30" "1288" "0" "1288" "0" "c.1288G>A" "r.(?)" "p.(Val430Met)" "" "0000891538" "00008132" "30" "2978" "0" "2978" "0" "c.2978A>G" "r.(?)" "p.(Glu993Gly)" "" "0000891539" "00008132" "30" "3753" "0" "3753" "0" "c.3753C>T" "r.(?)" "p.(Ser1251=)" "" "0000891540" "00008132" "30" "3979" "0" "3979" "0" "c.3979T>A" "r.(?)" "p.(Leu1327Ile)" "" "0000891541" "00008132" "30" "4319" "0" "4319" "0" "c.4319C>A" "r.(?)" "p.(Thr1440Lys)" "" "0000891542" "00008132" "30" "4991" "0" "4991" "0" "c.4991C>T" "r.(?)" "p.(Ala1664Val)" "" "0000891543" "00008132" "30" "5109" "0" "5109" "0" "c.5109C>T" "r.(?)" "p.(Ala1703=)" "" "0000891544" "00008132" "30" "6036" "0" "6036" "0" "c.6036C>T" "r.(?)" "p.(Phe2012=)" "" "0000891545" "00008132" "30" "6316" "0" "6316" "0" "c.6316A>G" "r.(?)" "p.(Met2106Val)" "" "0000891546" "00008132" "30" "7652" "-12" "7652" "-12" "c.7652-12G>A" "r.(=)" "p.(=)" "" "0000891547" "00008132" "50" "8894" "0" "8894" "0" "c.8894T>G" "r.(?)" "p.(Phe2965Cys)" "" "0000891548" "00008132" "30" "9266" "0" "9266" "0" "c.9266A>G" "r.(?)" "p.(His3089Arg)" "" "0000914102" "00008132" "30" "105" "0" "107" "0" "c.105_107dup" "r.(?)" "p.(Leu38dup)" "" "0000914103" "00008132" "30" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Leu37Phe)" "" "0000914104" "00008132" "30" "690" "0" "690" "0" "c.690T>C" "r.(?)" "p.(Tyr230=)" "" "0000914105" "00008132" "30" "2426" "0" "2426" "0" "c.2426G>A" "r.(?)" "p.(Arg809Gln)" "" "0000914106" "00008132" "30" "6339" "0" "6339" "0" "c.6339C>T" "r.(?)" "p.(Pro2113=)" "" "0000914107" "00008132" "30" "9113" "0" "9113" "0" "c.9113T>C" "r.(?)" "p.(Val3038Ala)" "" "0000930254" "00008132" "30" "5354" "0" "5354" "0" "c.5354A>C" "r.(?)" "p.(Lys1785Thr)" "" "0000950160" "00008132" "90" "2149" "0" "2149" "0" "c.2149C>T" "r.(?)" "p.(Gln717*)" "" "0000950161" "00008132" "30" "2472" "0" "2472" "0" "c.2472C>T" "r.(?)" "p.(Pro824=)" "" "0000950162" "00008132" "30" "6396" "0" "6396" "0" "c.6396C>T" "r.(?)" "p.(=)" "" "0000950163" "00008132" "30" "9038" "0" "9038" "0" "c.9038C>T" "r.(?)" "p.(Thr3013Met)" "" "0000950164" "00008132" "30" "9297" "0" "9297" "0" "c.9297C>T" "r.(?)" "p.(Pro3099=)" "" "0000980680" "00008132" "50" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Pro187Leu)" "" "0000980681" "00008132" "50" "607" "0" "607" "0" "c.607C>G" "r.(?)" "p.(Arg203Gly)" "" "0000980682" "00008132" "50" "2432" "0" "2432" "0" "c.2432G>A" "r.(?)" "p.(Gly811Glu)" "" "0000980683" "00008132" "10" "4901" "0" "4901" "0" "c.4901C>T" "r.(?)" "p.(Thr1634Met)" "" "0000980684" "00008132" "30" "4990" "0" "4990" "0" "c.4990G>A" "r.(?)" "p.(Ala1664Thr)" "" "0000980685" "00008132" "50" "5722" "0" "5722" "0" "c.5722G>A" "r.(?)" "p.(Gly1908Arg)" "" "0000980686" "00008132" "50" "6538" "0" "6538" "0" "c.6538C>T" "r.(?)" "p.(Arg2180Cys)" "" "0000980687" "00008132" "50" "7429" "0" "7429" "0" "c.7429C>T" "r.(?)" "p.(Arg2477Trp)" "" "0000980688" "00008132" "10" "7520" "-5" "7520" "-5" "c.7520-5del" "r.spl?" "p.?" "" "0000980689" "00008132" "50" "7535" "0" "7535" "0" "c.7535G>A" "r.(?)" "p.(Arg2512His)" "" "0000980690" "00008132" "30" "8580" "0" "8580" "0" "c.8580C>T" "r.(?)" "p.(=)" "" "0001000594" "00008132" "50" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Pro58Ser)" "" "0001000595" "00008132" "30" "1345" "0" "1345" "0" "c.1345C>G" "r.(?)" "p.(Leu449Val)" "" "0001039705" "00008132" "90" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Arg736Ter)" "" "0001039706" "00008132" "30" "4171" "0" "4171" "0" "c.4171C>T" "r.(?)" "p.(Arg1391Trp)" "" "0001039707" "00008132" "50" "4226" "0" "4226" "0" "c.4226A>C" "r.(?)" "p.(Tyr1409Ser)" "" "0001039708" "00008132" "30" "8176" "4" "8176" "4" "c.8176+4A>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000050416" "0000079396" "0000112162" "0000179316" "0000112162" "0000181177" "0000292096" "0000648785" "0000292098" "0000648787" "0000292099" "0000648788" "0000292100" "0000648789" "0000292101" "0000648790" "0000304425" "0000682824" "0000304425" "0000682825" "0000305538" "0000669226"