### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FMN2) # 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}}" "FMN2" "formin 2" "1" "q43" "unknown" "NC_000001.10" "UD_132319267086" "" "https://www.LOVD.nl/FMN2" "" "1" "14074" "56776" "606373" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/FMN2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-16 09:21:48" "00000" "2025-05-05 21:14:00" ## 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}}" "00008019" "FMN2" "formin 2" "001" "NM_020066.4" "" "NP_064450.3" "" "" "" "-225" "6204" "5169" "240255185" "240638489" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" "04479" "MRT47" "mental retardation, autosomal recessive, type 47 (MRT-47)" "AR" "616193" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FMN2" "00139" "FMN2" "04479" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00289786" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307946" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "M" "" "" "" "0" "" "" "" "17DG0768" "00362198" "" "" "" "2" "" "00006" "{PMID:Law 2014:25480035}" "4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "ARID-628-IV-4" "00362199" "" "" "00362198" "1" "" "00006" "{PMID:Law 2014:25480035}" "sister" "M" "yes" "Pakistan" "" "0" "" "" "" "ARID-628-IV-5" "00362200" "" "" "" "3" "" "00006" "{PMID:Law 2014:25480035}" "4-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Egypt" "" "0" "" "" "" "ARID-49-IV-1" "00362201" "" "" "00362200" "1" "" "00006" "{PMID:Law 2014:25480035}" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "ARID-49-IV-2" "00362202" "" "" "00362200" "1" "" "00006" "{PMID:Law 2014:25480035}" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "ARID-49-IV-3" "00387910" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Kurd" "M9200008" "00409231" "" "" "" "3" "" "04217" "{PMID: Li 2022:35227295}" "3-generation family, 3 affected (3F, mother, daughter, granddaughter)" "F" "no" "China" ">35y" "0" "" "" "" "FamPatIII2" "00411071" "" "" "" "1" "" "00006" "{PMID: Li 2022:35227295}" "sporadic case" "F" "" "China" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00289786" "00198" "00307946" "00139" "00362198" "00139" "00362199" "00139" "00362200" "00139" "00362201" "00139" "00362202" "00139" "00387910" "00139" "00409231" "04187" "00411071" "04187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04187, 04479 ## Count = 9 "{{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}}" "0000233369" "00139" "00307946" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., Intellectual disability, Microcephaly, Sloping forehead, Prominent nose, Pachygyria, Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Arnold-Chiari type I malformation" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000257612" "00139" "00362198" "00006" "Familial, autosomal recessive" "16y" "intellectual disability; OFC 52.4 cm; speech 1-2 words; normal hearing; daily activities dependent (eating, toilet); no dysmorphic face; hypotonia; no microcephaly; seizures (controlled Carbamazepine); ECG normal; no spasticity; no visual abnormalities; mitral valve prolapse; MRI brain normal" "" "" "" "" "" "" "" "" "MRT47" "intellectual disability" "" "0000257613" "00139" "00362199" "00006" "Familial, autosomal recessive" "14y" "intellectual disability; OFC 50.3 cm; speech 1-2 words; normal hearing; daily activities dependent (eating, toilet); no dysmorphic face; hypotonia; no microcephaly; seizures (controlled Carbamazepine); no spasticity; no visual abnormalities" "" "" "" "" "" "" "" "" "MRT47" "intellectual disability" "" "0000257614" "00139" "00362200" "00006" "Familial, autosomal recessive" "30y" "intellectual disability; OFC 51.7 cm; speech full sentences; normal hearing; daily activities independent (eating, toilet); no dysmorphic face; no hypotonia; no microcephaly; no seizures; no spasticity; no visual abnormalities" "" "" "" "" "" "" "" "" "MRT47" "intellectual disability" "" "0000257615" "00139" "00362201" "00006" "Familial, autosomal recessive" "25y" "intellectual disability; OFC 51.6 cm; speech 2-3 words; normal hearing; daily activities dependent (eating, toilet); no dysmorphic face; no hypotonia; no microcephaly; no seizures; no spasticity; no visual abnormalities" "" "" "" "" "" "" "" "" "MRT47" "intellectual disability" "" "0000257616" "00139" "00362202" "00006" "Familial, autosomal recessive" "17y" "intellectual disability; OFC 50.4 cm; speech single words; normal hearing; daily activities dependent (eating, toilet); no dysmorphic face; no hypotonia; no microcephaly; no seizures; no spasticity; no visual abnormalities; MRI brain normal" "" "" "" "" "" "" "" "" "MRT47" "intellectual disability" "" "0000281478" "00139" "00387910" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000302346" "04187" "00409231" "04217" "Familial, autosomal recessive" "35y" "see paper; ..., y-amenorrhea (HP:0000141), no pregnancies" "34y" "34y" "see paper; ..., oligomenorrhea (HP:0000876); premature ovarian insufficiency; (HP:0008209); aplasia/hypoplasia of the uterus (HP:0008684)" "" "" "" "" "" "POF" "" "" "0000303161" "04187" "00411071" "00006" "Unknown" "29y" "see paper; ..., 23y-amenorrhea, no pregnancies" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000290954" "00289786" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309090" "00307946" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000363427" "00362198" "1" "00006" "00006" "2021-04-16 09:35:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363428" "00362199" "1" "00006" "00006" "2021-04-16 09:35:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363429" "00362200" "1" "00006" "00006" "2021-04-16 09:35:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363430" "00362201" "1" "00006" "00006" "2021-04-16 09:35:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363431" "00362202" "1" "00006" "00006" "2021-04-16 09:35:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000389141" "00387910" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000411505" "00409231" "1" "04217" "04217" "2022-05-21 21:46:03" "" "" "SEQ;Western" "DNA;protein" "" "" "0000412335" "00411071" "1" "00006" "00006" "2022-06-01 11:03:07" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000309090" "FMN2" "0000363427" "FMN2" "0000363428" "FMN2" "0000363429" "FMN2" "0000363430" "FMN2" "0000363431" "FMN2" "0000389141" "FMN2" ## 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 = 123 "{{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}}" "0000253600" "0" "10" "1" "240371484" "240371484" "subst" "0.000977915" "01943" "FMN2_000033" "g.240371484A>T" "" "" "" "FMN2(NM_020066.5):c.3372A>T (p.L1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208184A>T" "" "benign" "" "0000254417" "0" "30" "1" "240371661" "240371661" "subst" "0.000471359" "01943" "FMN2_000038" "g.240371661A>C" "" "" "" "FMN2(NM_020066.5):c.3549A>C (p.G1183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208361A>C" "" "likely benign" "" "0000254639" "0" "30" "1" "240371319" "240371319" "subst" "0" "01943" "FMN2_000023" "g.240371319A>T" "" "" "" "FMN2(NM_020066.5):c.3207A>T (p.L1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208019A>T" "" "likely benign" "" "0000254641" "0" "30" "1" "240371418" "240371418" "subst" "0" "01943" "FMN2_000027" "g.240371418A>T" "" "" "" "FMN2(NM_020066.5):c.3306A>T (p.L1102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208118A>T" "" "likely benign" "" "0000254644" "0" "30" "1" "240371451" "240371451" "subst" "0" "01943" "FMN2_000028" "g.240371451A>T" "" "" "" "FMN2(NM_020066.5):c.3339A>T (p.L1113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208151A>T" "" "likely benign" "" "0000254645" "0" "30" "1" "240371616" "240371616" "subst" "0" "01943" "FMN2_000037" "g.240371616A>T" "" "" "" "FMN2(NM_020066.5):c.3504A>T (p.L1168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208316A>T" "" "likely benign" "" "0000254701" "0" "30" "1" "240370923" "240370923" "subst" "4.33922E-6" "01943" "FMN2_000010" "g.240370923A>T" "" "" "" "FMN2(NM_020066.5):c.2811A>T (p.L937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240207623A>T" "" "likely benign" "" "0000254705" "0" "30" "1" "240371055" "240371055" "subst" "0.00154029" "01943" "FMN2_000017" "g.240371055A>T" "" "" "" "FMN2(NM_001305424.1):c.2955A>T (p.L985=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240207755A>T" "" "likely benign" "" "0000254842" "0" "30" "1" "240371373" "240371373" "subst" "0" "01943" "FMN2_000024" "g.240371373A>T" "" "" "" "FMN2(NM_020066.5):c.3261A>T (p.P1087=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208073A>T" "" "likely benign" "" "0000254844" "0" "30" "1" "240371541" "240371541" "subst" "0.000220873" "01943" "FMN2_000034" "g.240371541A>T" "" "" "" "FMN2(NM_020066.5):c.3429A>T (p.P1143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208241A>T" "" "likely benign" "" "0000254888" "0" "30" "1" "240371046" "240371046" "subst" "5.57143E-5" "01943" "FMN2_000015" "g.240371046A>G" "" "" "" "FMN2(NM_020066.5):c.2934A>G (p.P978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240207746A>G" "" "likely benign" "" "0000280844" "0" "30" "1" "240341353" "240341353" "subst" "3.4323E-5" "02325" "FMN2_000006" "g.240341353G>A" "" "" "" "FMN2(NM_001305424.2):c.1915G>A (p.E639K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240178053G>A" "" "likely benign" "" "0000280845" "0" "30" "1" "240370952" "240370952" "subst" "0.0121398" "02325" "FMN2_000013" "g.240370952C>T" "" "" "" "FMN2(NM_001305424.2):c.2852C>T (p.P951L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240207652C>T" "" "likely benign" "" "0000287794" "0" "30" "1" "240256761" "240256761" "subst" "0.000684802" "01943" "FMN2_000004" "g.240256761T>A" "" "" "" "FMN2(NM_020066.5):c.1352T>A (p.L451Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240093461T>A" "" "likely benign" "" "0000287795" "0" "30" "1" "240286552" "240286552" "subst" "0.000442632" "01943" "FMN2_000005" "g.240286552C>A" "" "" "" "FMN2(NM_001305424.1):c.1689C>A (p.S563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240123252C>A" "" "likely benign" "" "0000287796" "0" "50" "1" "240351534" "240351534" "subst" "0.000520359" "01943" "FMN2_000007" "g.240351534C>T" "" "" "" "FMN2(NM_001305424.1):c.1970C>T (p.P657L), FMN2(NM_020066.5):c.1958C>T (p.(Pro653Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240188234C>T" "" "VUS" "" "0000287797" "0" "30" "1" "240370884" "240370884" "subst" "0.00262713" "01943" "FMN2_000008" "g.240370884G>C" "" "" "" "FMN2(NM_020066.5):c.2772G>C (p.P924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240207584G>C" "" "likely benign" "" "0000287798" "0" "30" "1" "240370907" "240370907" "subst" "3.34611E-5" "01943" "FMN2_000009" "g.240370907T>C" "" "" "" "FMN2(NM_020066.5):c.2795T>C (p.L932P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240207607T>C" "" "likely benign" "" "0000287799" "0" "30" "1" "240370967" "240370999" "del" "0" "01943" "FMN2_000014" "g.240370967_240370999del" "" "" "" "FMN2(NM_001305424.1):c.2867_2899del (p.A956_A966del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240207667_240207699del" "" "likely benign" "" "0000287800" "0" "30" "1" "240371049" "240371049" "subst" "0.000460076" "01943" "FMN2_000016" "g.240371049C>G" "" "" "" "FMN2(NM_020066.5):c.2937C>G (p.P979=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240207749C>G" "" "likely benign" "" "0000287801" "0" "30" "1" "240371277" "240371277" "subst" "0.00189621" "01943" "FMN2_000021" "g.240371277T>G" "" "" "" "FMN2(NM_020066.5):c.3165T>G (p.P1055=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240207977T>G" "" "likely benign" "" "0000287802" "0" "30" "1" "240371304" "240371304" "subst" "0.00486522" "01943" "FMN2_000022" "g.240371304T>C" "" "" "" "FMN2(NM_020066.5):c.3192T>C (p.P1064=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208004T>C" "" "likely benign" "" "0000287803" "0" "10" "1" "240371405" "240371405" "subst" "0" "01943" "FMN2_000025" "g.240371405C>T" "" "" "" "FMN2(NM_020066.5):c.3293C>T (p.P1098L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208105C>T" "" "benign" "" "0000287804" "0" "30" "1" "240371409" "240371409" "subst" "5.14258E-5" "01943" "FMN2_000026" "g.240371409G>T" "" "" "" "FMN2(NM_020066.5):c.3297G>T (p.P1099=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208109G>T" "" "likely benign" "" "0000287805" "0" "10" "1" "240371462" "240371462" "subst" "0.000595889" "01943" "FMN2_000029" "g.240371462G>T" "" "" "" "FMN2(NM_020066.5):c.3350G>T (p.G1117V, p.(Gly1117Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208162G>T" "" "benign" "" "0000287806" "0" "30" "1" "240371469" "240371469" "subst" "1.93323E-5" "01943" "FMN2_000030" "g.240371469C>T" "" "" "" "FMN2(NM_020066.5):c.3357C>T (p.P1119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208169C>T" "" "likely benign" "" "0000287807" "0" "30" "1" "240371475" "240371475" "subst" "4.14072E-5" "01943" "FMN2_000031" "g.240371475T>A" "" "" "" "FMN2(NM_020066.5):c.3363T>A (p.P1121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208175T>A" "" "likely benign" "" "0000287808" "0" "30" "1" "240371475" "240371475" "subst" "0.000281569" "01943" "FMN2_000032" "g.240371475T>G" "" "" "" "FMN2(NM_020066.5):c.3363T>G (p.P1121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208175T>G" "" "likely benign" "" "0000287809" "0" "30" "1" "240371558" "240371558" "subst" "0" "01943" "FMN2_000035" "g.240371558T>C" "" "" "" "FMN2(NM_020066.5):c.3446T>C (p.V1149A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208258T>C" "" "likely benign" "" "0000287810" "0" "30" "1" "240371609" "240371609" "subst" "0" "01943" "FMN2_000036" "g.240371609C>T" "" "" "" "FMN2(NM_020066.5):c.3497C>T (p.P1166L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208309C>T" "" "likely benign" "" "0000287811" "0" "30" "1" "240371667" "240371667" "subst" "0" "01943" "FMN2_000039" "g.240371667T>C" "" "" "" "FMN2(NM_020066.5):c.3555T>C (p.P1185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208367T>C" "" "likely benign" "" "0000287812" "0" "10" "1" "240371821" "240371821" "subst" "0.00131827" "01943" "FMN2_000040" "g.240371821C>G" "" "" "" "FMN2(NM_020066.5):c.3709C>G (p.L1237V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240208521C>G" "" "benign" "" "0000287813" "0" "30" "1" "240635747" "240635747" "subst" "0.00323009" "01943" "FMN2_000041" "g.240635747T>G" "" "" "" "FMN2(NM_020066.5):c.5136T>G (p.S1712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240472447T>G" "" "likely benign" "" "0000287814" "0" "30" "1" "240255940" "240255940" "subst" "0.000843937" "01943" "FMN2_000002" "g.240255940G>A" "" "" "" "FMN2(NM_020066.5):c.531G>A (p.S177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240092640G>A" "" "likely benign" "" "0000287815" "0" "50" "1" "240255471" "240255471" "subst" "0" "01943" "FMN2_000001" "g.240255471G>T" "" "" "" "FMN2(NM_020066.5):c.62G>T (p.G21V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240092171G>T" "" "VUS" "" "0000287816" "0" "10" "1" "240256171" "240256171" "subst" "0.0110722" "01943" "FMN2_000003" "g.240256171G>A" "" "" "" "FMN2(NM_020066.5):c.762G>A (p.L254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240092871G>A" "" "benign" "" "0000506572" "0" "50" "1" "240255851" "240255851" "subst" "2.49752E-5" "01943" "FMN2_000044" "g.240255851G>T" "" "" "" "FMN2(NM_001305424.1):c.442G>T (p.G148W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240092551G>T" "" "VUS" "" "0000506574" "0" "30" "1" "240256362" "240256362" "subst" "0.000129266" "01804" "FMN2_000045" "g.240256362C>T" "" "" "" "FMN2(NM_020066.4):c.953C>T (p.(Pro318Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240093062C>T" "" "likely benign" "" "0000506576" "0" "30" "1" "240286627" "240286627" "subst" "8.54013E-5" "02325" "FMN2_000046" "g.240286627G>A" "" "" "" "FMN2(NM_001305424.2):c.1764G>A (p.T588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240123327G>A" "" "likely benign" "" "0000506577" "0" "30" "1" "240351508" "240351508" "subst" "0" "01804" "FMN2_000047" "g.240351508A>G" "" "" "" "FMN2(NM_020066.4):c.1932A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240188208A>G" "" "likely benign" "" "0000506579" "0" "30" "1" "240370535" "240370535" "subst" "1.21856E-5" "01804" "FMN2_000049" "g.240370535C>T" "" "" "" "FMN2(NM_020066.4):c.2423C>T (p.(Ser808Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240207235C>T" "" "likely benign" "" "0000506580" "0" "50" "1" "240370652" "240370652" "subst" "0" "01943" "FMN2_000050" "g.240370652C>T" "" "" "" "FMN2(NM_001305424.1):c.2552C>T (p.S851F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240207352C>T" "" "VUS" "" "0000506582" "0" "30" "1" "240370684" "240370684" "subst" "0.00107636" "01804" "FMN2_000051" "g.240370684C>A" "" "" "" "FMN2(NM_001305424.1):c.2584C>A (p.P862T), FMN2(NM_020066.4):c.2572C>A (p.(Pro858Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240207384C>A" "" "likely benign" "" "0000506588" "0" "10" "1" "240370967" "240370967" "subst" "0.00518757" "01943" "FMN2_000055" "g.240370967C>G" "" "" "" "FMN2(NM_001305424.1):c.2867C>G (p.A956G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240207667C>G" "" "benign" "" "0000506591" "0" "30" "1" "240370976" "240370976" "subst" "0.0113697" "01804" "FMN2_000058" "g.240370976C>T" "" "" "" "FMN2(NM_020066.4):c.2864C>T (p.(Pro955Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240207676C>T" "" "likely benign" "" "0000506594" "0" "30" "1" "240371009" "240371009" "subst" "0.00289169" "01804" "FMN2_000061" "g.240371009T>C" "" "" "" "FMN2(NM_020066.5):c.2897T>C (p.(Leu966Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240207709T>C" "" "likely benign" "" "0000506595" "0" "30" "1" "240371022" "240371022" "subst" "0.000721214" "01943" "FMN2_000062" "g.240371022T>A" "" "" "" "FMN2(NM_001305424.1):c.2922T>A (p.L974=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240207722T>A" "" "likely benign" "" "0000506596" "0" "30" "1" "240371031" "240371129" "del" "0" "01804" "FMN2_000063" "g.240371031_240371129del" "" "" "" "FMN2(NM_020066.4):c.2908_3006del (p.(Ala1072_Gly1104del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240207731_240207829del" "" "likely benign" "" "0000506601" "0" "10" "1" "240371139" "240371139" "subst" "0" "01943" "FMN2_000067" "g.240371139C>T" "" "" "" "FMN2(NM_020066.5):c.3027C>T (p.P1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240207839C>T" "" "benign" "" "0000506609" "0" "30" "1" "240371712" "240371712" "subst" "0.000630654" "01943" "FMN2_000072" "g.240371712T>A" "" "" "" "FMN2(NM_001305424.1):c.3612T>A (p.P1204=), FMN2(NM_020066.5):c.3600T>A (p.(Pro1200=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240208412T>A" "" "likely benign" "" "0000506610" "0" "10" "1" "240371906" "240371906" "subst" "0.000726892" "01943" "FMN2_000073" "g.240371906C>T" "" "" "" "FMN2(NM_001305424.1):c.3806C>T (p.P1269L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240208606C>T" "" "benign" "" "0000506611" "0" "30" "1" "240371994" "240371994" "subst" "0" "01943" "FMN2_000074" "g.240371994G>A" "" "" "" "FMN2(NM_001305424.1):c.3894G>A (p.K1298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240208694G>A" "" "likely benign" "" "0000506613" "0" "30" "1" "240635685" "240635685" "subst" "8.18116E-6" "01943" "FMN2_000076" "g.240635685G>A" "" "" "" "FMN2(NM_001305424.1):c.5086G>A (p.E1696K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240472385G>A" "" "likely benign" "" "0000605573" "0" "30" "1" "240370684" "240370684" "subst" "0.00107636" "01943" "FMN2_000051" "g.240370684C>A" "" "" "" "FMN2(NM_001305424.1):c.2584C>A (p.P862T), FMN2(NM_020066.4):c.2572C>A (p.(Pro858Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240207384C>A" "" "likely benign" "" "0000605574" "0" "30" "1" "240370964" "240370965" "ins" "0.0113041" "01804" "FMN2_000078" "g.240370964_240370965insA" "" "" "" "FMN2(NM_020066.4):c.2852_2853insA (p.(Ala952GlyfsTer301))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240207664_240207665insA" "" "likely benign" "" "0000605575" "0" "30" "1" "240371000" "240371001" "ins" "0" "01804" "FMN2_000079" "g.240371000_240371001insAATACCTCCTCCACCCCCTCTACCCGGAGCGGG" "" "" "" "FMN2(NM_020066.4):c.2886_2887insGGAATACCTCCTCCACCCCCTCTACCCGGAGCG (p.(Pro955_Pro965dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240207700_240207701insAATACCTCCTCCACCCCCTCTACCCGGAGCGGG" "" "likely benign" "" "0000605576" "0" "30" "1" "240371439" "240371441" "del" "0" "01804" "FMN2_000081" "g.240371439_240371441del" "" "" "" "FMN2(NM_020066.4):c.3322_3324del (p.(Pro1112del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240208139_240208141del" "" "likely benign" "" "0000647643" "1" "50" "1" "240635683" "240635683" "subst" "1.63898E-5" "03575" "FMN2_000082" "g.240635683C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs183078344}" "Germline" "" "rs183078344" "0" "" "" "g.240472383C>T" "" "VUS" "" "0000653974" "0" "90" "1" "240492661" "240492661" "del" "0" "02325" "FMN2_000084" "g.240492661del" "" "" "" "FMN2(NM_001305424.2):c.4342delA (p.I1448Sfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240329361del" "" "pathogenic" "" "0000675771" "0" "30" "1" "240370279" "240370279" "subst" "4.06088E-5" "01943" "FMN2_000085" "g.240370279C>G" "" "" "" "FMN2(NM_001305424.1):c.2179C>G (p.L727V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675772" "0" "30" "1" "240370951" "240370952" "ins" "0.000664399" "02330" "FMN2_000086" "g.240370951_240370952insTTCTTCCCGGGGCAGGCATACCCCTTCCTCCCC" "" "" "" "FMN2(NM_001305424.1):c.2851_2852ins33 (p.P950_P951ins11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683553" "3" "90" "1" "240371447" "240371447" "del" "0" "00006" "FMN2_000089" "g.240371447del" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PM2,PP1" "Germline" "" "" "0" "" "" "g.240208147del" "" "pathogenic (recessive)" "ACMG" "0000688108" "0" "30" "1" "240371388" "240371388" "subst" "0.00095384" "01943" "FMN2_000090" "g.240371388C>T" "" "" "" "FMN2(NM_001305424.1):c.3288C>T (p.P1096=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717354" "0" "50" "1" "240256368" "240256368" "subst" "0" "01943" "FMN2_000091" "g.240256368C>T" "" "" "" "FMN2(NM_001305424.1):c.959C>T (p.S320F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717355" "0" "90" "1" "240341281" "240341281" "subst" "0" "01943" "FMN2_000092" "g.240341281G>T" "" "" "" "FMN2(NM_001305424.1):c.1843G>T (p.E615*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717356" "0" "50" "1" "240497454" "240497454" "subst" "0" "02329" "FMN2_000075" "g.240497454G>T" "" "" "" "FMN2(NM_001305424.1):c.4702G>T (p.D1568Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000764081" "3" "90" "1" "240256803" "240256803" "dup" "0" "00006" "FMN2_000093" "g.240256803dup" "" "{PMID:Law 2014:25480035}" "" "1394_1395insC" "" "Germline" "yes" "" "0" "" "" "g.240093503dup" "" "pathogenic (recessive)" "" "0000764082" "3" "90" "1" "240256803" "240256803" "dup" "0" "00006" "FMN2_000093" "g.240256803dup" "" "{PMID:Law 2014:25480035}" "" "1394_1395insC" "" "Germline" "yes" "" "0" "" "" "g.240093503dup" "" "pathogenic (recessive)" "" "0000764083" "3" "90" "1" "240370627" "240370627" "del" "0" "00006" "FMN2_000094" "g.240370627del" "" "{PMID:Law 2014:25480035}" "" "2515_2515delA" "" "Germline" "yes" "" "0" "" "" "g.240207327del" "" "pathogenic (recessive)" "" "0000764084" "3" "90" "1" "240370627" "240370627" "del" "0" "00006" "FMN2_000094" "g.240370627del" "" "{PMID:Law 2014:25480035}" "" "2515_2515delA" "" "Germline" "yes" "" "0" "" "" "g.240207327del" "" "pathogenic (recessive)" "" "0000764085" "3" "90" "1" "240370627" "240370627" "del" "0" "00006" "FMN2_000094" "g.240370627del" "" "{PMID:Law 2014:25480035}" "" "2515_2515delA" "" "Germline" "yes" "" "0" "" "" "g.240207327del" "" "pathogenic (recessive)" "" "0000817934" "3" "90" "1" "240374536" "240374536" "subst" "0" "00006" "FMN2_000095" "g.240374536G>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.240211236G>T" "" "pathogenic (recessive)" "ACMG" "0000848659" "0" "30" "1" "240256781" "240256781" "subst" "0.000614036" "01943" "FMN2_000096" "g.240256781G>A" "" "" "" "FMN2(NM_001305424.1):c.1372G>A (p.A458T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848660" "0" "30" "1" "240370995" "240371027" "del" "0" "01943" "FMN2_000100" "g.240370995_240371027del" "" "" "" "FMN2(NM_001305424.1):c.2895_2927del (p.L970_P980del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848661" "0" "30" "1" "240421322" "240421322" "subst" "0" "01943" "FMN2_000101" "g.240421322C>T" "" "" "" "FMN2(NM_001305424.1):c.4155C>T (p.D1385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857387" "0" "30" "1" "240341335" "240341335" "subst" "2.06306E-5" "01943" "FMN2_000097" "g.240341335G>A" "" "" "" "FMN2(NM_001305424.1):c.1897G>A (p.D633N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857388" "0" "50" "1" "240370918" "240370926" "del" "0" "01943" "FMN2_000098" "g.240370918_240370926del" "" "" "" "FMN2(NM_001305424.1):c.2818_2826delCCTCTACCC (p.P940_P942del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857389" "0" "50" "1" "240370928" "240370951" "del" "0" "01943" "FMN2_000099" "g.240370928_240370951del" "" "" "" "FMN2(NM_001305424.1):c.2828_2851delGAGCGGGAATACCTCCTCCGCCCC (p.G943_P951delinsA)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000868641" "21" "70" "1" "240351525" "240351525" "subst" "0" "04217" "FMN2_000102" "g.240351525C>T" "" "{PMID:Li 2022:35227295}" "" "" "" "Germline" "" "" "0" "" "" "g.240188225C>T" "" "likely pathogenic (dominant)" "" "0000869665" "0" "70" "1" "240351543" "240351543" "subst" "5.6905E-5" "00006" "FMN2_000103" "g.240351543G>A" "" "{PMID:Li 2022:35227295}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000911011" "0" "30" "1" "240256668" "240256668" "subst" "0.00328236" "02325" "FMN2_000104" "g.240256668A>C" "" "" "" "FMN2(NM_020066.5):c.1259A>C (p.K420T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911012" "0" "50" "1" "240370952" "240370952" "del" "0.000467332" "02325" "FMN2_000105" "g.240370952del" "" "" "" "FMN2(NM_020066.5):c.2840delC (p.P947Lfs*328)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911013" "0" "50" "1" "240370954" "240370985" "del" "0.000350747" "02325" "FMN2_000106" "g.240370954_240370985del" "" "" "" "FMN2(NM_020066.5):c.2842_2873delCTACCCGGAGCGGCAATACCCCCTCCGCCCCC (p.L948Sfs*294)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923136" "0" "30" "1" "240256105" "240256105" "subst" "0.00378541" "02326" "FMN2_000083" "g.240256105T>C" "" "" "" "FMN2(NM_020066.5):c.696T>C (p.P232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973815" "0" "50" "1" "240255728" "240255728" "subst" "0" "01804" "FMN2_000108" "g.240255728G>T" "" "" "" "FMN2(NM_020066.5):c.319G>T (p.(Glu107*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973816" "0" "30" "1" "240256439" "240256439" "subst" "3.15278E-5" "01804" "FMN2_000109" "g.240256439G>A" "" "" "" "FMN2(NM_020066.5):c.1030G>A (p.(Asp344Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973817" "0" "50" "1" "240256667" "240256667" "subst" "0" "01804" "FMN2_000110" "g.240256667A>G" "" "" "" "FMN2(NM_020066.5):c.1258A>G (p.(Lys420Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973818" "0" "50" "1" "240257014" "240257014" "subst" "0" "01804" "FMN2_000111" "g.240257014C>G" "" "" "" "FMN2(NM_020066.5):c.1605C>G (p.(Asn535Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973819" "0" "50" "1" "240351542" "240351542" "subst" "0.000117848" "01804" "FMN2_000112" "g.240351542C>T" "" "" "" "FMN2(NM_020066.5):c.1966C>T (p.(Arg656Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973820" "0" "50" "1" "240370940" "240370940" "subst" "0.000272022" "01804" "FMN2_000113" "g.240370940C>T" "" "" "" "FMN2(NM_020066.5):c.2828C>T (p.(Pro943Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973821" "0" "50" "1" "240371026" "240371026" "subst" "4.24135E-6" "01804" "FMN2_000114" "g.240371026G>A" "" "" "" "FMN2(NM_020066.5):c.2914G>A (p.(Gly972Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973822" "0" "30" "1" "240371190" "240371190" "subst" "0" "01804" "FMN2_000115" "g.240371190C>T" "" "" "" "FMN2(NM_020066.5):c.3078C>T (p.(Pro1026=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973823" "0" "50" "1" "240371290" "240371290" "subst" "0.000131234" "01804" "FMN2_000116" "g.240371290G>A" "" "" "" "FMN2(NM_020066.5):c.3178G>A (p.(Gly1060Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973824" "0" "30" "1" "240371502" "240371502" "subst" "4.73377E-5" "01804" "FMN2_000117" "g.240371502C>T" "" "" "" "FMN2(NM_020066.5):c.3390C>T (p.(Pro1130=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973825" "0" "50" "1" "240371525" "240371525" "subst" "3.63784E-5" "01804" "FMN2_000118" "g.240371525C>T" "" "" "" "FMN2(NM_020066.5):c.3413C>T (p.(Ala1138Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973826" "0" "30" "1" "240371712" "240371712" "subst" "0.000630654" "01804" "FMN2_000072" "g.240371712T>A" "" "" "" "FMN2(NM_001305424.1):c.3612T>A (p.P1204=), FMN2(NM_020066.5):c.3600T>A (p.(Pro1200=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973827" "0" "50" "1" "240421302" "240421302" "subst" "0.000204819" "01804" "FMN2_000119" "g.240421302C>A" "" "" "" "FMN2(NM_020066.4):c.4123C>A (p.(Leu1375Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991034" "0" "30" "1" "240256320" "240256320" "subst" "5.84932E-5" "01804" "FMN2_000120" "g.240256320C>A" "" "" "" "FMN2(NM_020066.4):c.911C>A (p.(Ala304Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991035" "0" "30" "1" "240286553" "240286553" "subst" "4.06081E-6" "01804" "FMN2_000121" "g.240286553C>T" "" "" "" "FMN2(NM_020066.4):c.1690C>T (p.(Arg564Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991036" "0" "50" "1" "240370369" "240370369" "subst" "4.87563E-5" "01804" "FMN2_000122" "g.240370369G>T" "" "" "" "FMN2(NM_020066.4):c.2257G>T (p.(Gly753Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991037" "0" "30" "1" "240370387" "240370387" "subst" "4.0624E-5" "01804" "FMN2_000123" "g.240370387C>T" "" "" "" "FMN2(NM_020066.4):c.2275C>T (p.(Pro759Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991038" "0" "50" "1" "240371065" "240371065" "subst" "2.63375E-5" "01804" "FMN2_000124" "g.240371065G>A" "" "" "" "FMN2(NM_020066.4):c.2953G>A (p.(Gly985Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991039" "0" "30" "1" "240371492" "240371492" "subst" "0" "01804" "FMN2_000125" "g.240371492C>T" "" "" "" "FMN2(NM_020066.4):c.3380C>T (p.(Ala1127Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991040" "0" "30" "1" "240601425" "240601425" "subst" "4.06273E-6" "01804" "FMN2_000126" "g.240601425A>T" "" "" "" "FMN2(NM_020066.4):c.4975A>T (p.(Asn1659Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031875" "0" "50" "1" "240256035" "240256046" "del" "0" "01804" "FMN2_000127" "g.240256035_240256046del" "" "" "" "FMN2(NM_020066.5):c.626_637del (p.(Gln209_Gln212del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031876" "0" "50" "1" "240256103" "240256103" "subst" "1.06855E-5" "01804" "FMN2_000128" "g.240256103C>G" "" "" "" "FMN2(NM_020066.5):c.694C>G (p.(Pro232Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031877" "0" "30" "1" "240351534" "240351534" "subst" "0.000520359" "01804" "FMN2_000007" "g.240351534C>T" "" "" "" "FMN2(NM_001305424.1):c.1970C>T (p.P657L), FMN2(NM_020066.5):c.1958C>T (p.(Pro653Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031878" "0" "50" "1" "240370343" "240370343" "subst" "2.03112E-5" "01804" "FMN2_000129" "g.240370343T>A" "" "" "" "FMN2(NM_020066.5):c.2231T>A (p.(Ile744Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031879" "0" "50" "1" "240370598" "240370598" "subst" "8.12341E-6" "01804" "FMN2_000130" "g.240370598C>T" "" "" "" "FMN2(NM_020066.5):c.2486C>T (p.(Pro829Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031880" "0" "30" "1" "240370634" "240370634" "subst" "0.000134021" "01804" "FMN2_000131" "g.240370634A>G" "" "" "" "FMN2(NM_020066.5):c.2522A>G (p.(His841Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031881" "0" "50" "1" "240371002" "240371002" "subst" "0" "01804" "FMN2_000132" "g.240371002A>G" "" "" "" "FMN2(NM_020066.5):c.2890A>G (p.(Ile964Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031882" "0" "50" "1" "240371111" "240371111" "subst" "4.38669E-5" "01804" "FMN2_000133" "g.240371111C>T" "" "" "" "FMN2(NM_020066.5):c.2999C>T (p.(Pro1000Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031883" "0" "30" "1" "240371151" "240371151" "subst" "0.0479752" "01804" "FMN2_000134" "g.240371151T>A" "" "" "" "FMN2(NM_020066.5):c.3039T>A (p.(Pro1013=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031884" "0" "50" "1" "240371179" "240371179" "subst" "0" "01804" "FMN2_000135" "g.240371179C>A" "" "" "" "FMN2(NM_020066.5):c.3067C>A (p.(Pro1023Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031885" "0" "50" "1" "240371210" "240371210" "subst" "2.14555E-5" "01804" "FMN2_000136" "g.240371210C>T" "" "" "" "FMN2(NM_020066.5):c.3098C>T (p.(Pro1033Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031886" "0" "30" "1" "240371223" "240371223" "subst" "0.000314725" "01804" "FMN2_000137" "g.240371223C>T" "" "" "" "FMN2(NM_020066.5):c.3111C>T (p.(Pro1037=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031887" "0" "50" "1" "240371330" "240371330" "subst" "0" "01804" "FMN2_000138" "g.240371330G>C" "" "" "" "FMN2(NM_020066.5):c.3218G>C (p.(Gly1073Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031888" "0" "30" "1" "240371342" "240371342" "subst" "0.0002437" "01804" "FMN2_000139" "g.240371342C>T" "" "" "" "FMN2(NM_020066.5):c.3230C>T (p.(Pro1077Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031889" "0" "30" "1" "240371393" "240371393" "subst" "0.00027181" "01804" "FMN2_000140" "g.240371393C>T" "" "" "" "FMN2(NM_020066.5):c.3281C>T (p.(Ala1094Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031890" "0" "30" "1" "240371462" "240371462" "subst" "0.000595889" "01804" "FMN2_000029" "g.240371462G>T" "" "" "" "FMN2(NM_020066.5):c.3350G>T (p.G1117V, p.(Gly1117Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031891" "0" "30" "1" "240371573" "240371573" "subst" "0.00036504" "01804" "FMN2_000141" "g.240371573C>T" "" "" "" "FMN2(NM_020066.5):c.3461C>T (p.(Pro1154Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031892" "0" "50" "1" "240371624" "240371624" "subst" "6.33905E-5" "01804" "FMN2_000142" "g.240371624C>T" "" "" "" "FMN2(NM_020066.5):c.3512C>T (p.(Ala1171Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031893" "0" "50" "1" "240458135" "240458135" "subst" "0" "01804" "FMN2_000143" "g.240458135G>C" "" "" "" "FMN2(NM_020066.5):c.4167G>C (p.(Leu1389Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FMN2 ## Count = 123 "{{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}}" "0000253600" "00008019" "10" "3372" "0" "3372" "0" "c.3372A>T" "r.(?)" "p.(Leu1124=)" "" "0000254417" "00008019" "30" "3549" "0" "3549" "0" "c.3549A>C" "r.(?)" "p.(Gly1183=)" "" "0000254639" "00008019" "30" "3207" "0" "3207" "0" "c.3207A>T" "r.(?)" "p.(Leu1069=)" "" "0000254641" "00008019" "30" "3306" "0" "3306" "0" "c.3306A>T" "r.(?)" "p.(Leu1102=)" "" "0000254644" "00008019" "30" "3339" "0" "3339" "0" "c.3339A>T" "r.(?)" "p.(Leu1113=)" "" "0000254645" "00008019" "30" "3504" "0" "3504" "0" "c.3504A>T" "r.(?)" "p.(Leu1168=)" "" "0000254701" "00008019" "30" "2811" "0" "2811" "0" "c.2811A>T" "r.(?)" "p.(Leu937=)" "" "0000254705" "00008019" "30" "2943" "0" "2943" "0" "c.2943A>T" "r.(?)" "p.(Leu981=)" "" "0000254842" "00008019" "30" "3261" "0" "3261" "0" "c.3261A>T" "r.(?)" "p.(Pro1087=)" "" "0000254844" "00008019" "30" "3429" "0" "3429" "0" "c.3429A>T" "r.(?)" "p.(Pro1143=)" "" "0000254888" "00008019" "30" "2934" "0" "2934" "0" "c.2934A>G" "r.(?)" "p.(Pro978=)" "" "0000280844" "00008019" "30" "1915" "0" "1915" "0" "c.1915G>A" "r.(?)" "p.(Glu639Lys)" "" "0000280845" "00008019" "30" "2840" "0" "2840" "0" "c.2840C>T" "r.(?)" "p.(Pro947Leu)" "" "0000287794" "00008019" "30" "1352" "0" "1352" "0" "c.1352T>A" "r.(?)" "p.(Leu451Gln)" "" "0000287795" "00008019" "30" "1689" "0" "1689" "0" "c.1689C>A" "r.(?)" "p.(Ser563=)" "" "0000287796" "00008019" "50" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Pro653Leu)" "" "0000287797" "00008019" "30" "2772" "0" "2772" "0" "c.2772G>C" "r.(?)" "p.(Pro924=)" "" "0000287798" "00008019" "30" "2795" "0" "2795" "0" "c.2795T>C" "r.(?)" "p.(Leu932Pro)" "" "0000287799" "00008019" "30" "2855" "0" "2887" "0" "c.2855_2887del" "r.(?)" "p.(Ala952_Ala962del)" "" "0000287800" "00008019" "30" "2937" "0" "2937" "0" "c.2937C>G" "r.(?)" "p.(Pro979=)" "" "0000287801" "00008019" "30" "3165" "0" "3165" "0" "c.3165T>G" "r.(?)" "p.(Pro1055=)" "" "0000287802" "00008019" "30" "3192" "0" "3192" "0" "c.3192T>C" "r.(?)" "p.(Pro1064=)" "" "0000287803" "00008019" "10" "3293" "0" "3293" "0" "c.3293C>T" "r.(?)" "p.(Pro1098Leu)" "" "0000287804" "00008019" "30" "3297" "0" "3297" "0" "c.3297G>T" "r.(?)" "p.(Pro1099=)" "" "0000287805" "00008019" "10" "3350" "0" "3350" "0" "c.3350G>T" "r.(?)" "p.(Gly1117Val)" "" "0000287806" "00008019" "30" "3357" "0" "3357" "0" "c.3357C>T" "r.(?)" "p.(Pro1119=)" "" "0000287807" "00008019" "30" "3363" "0" "3363" "0" "c.3363T>A" "r.(?)" "p.(Pro1121=)" "" "0000287808" "00008019" "30" "3363" "0" "3363" "0" "c.3363T>G" "r.(?)" "p.(Pro1121=)" "" "0000287809" "00008019" "30" "3446" "0" "3446" "0" "c.3446T>C" "r.(?)" "p.(Val1149Ala)" "" "0000287810" "00008019" "30" "3497" "0" "3497" "0" "c.3497C>T" "r.(?)" "p.(Pro1166Leu)" "" "0000287811" "00008019" "30" "3555" "0" "3555" "0" "c.3555T>C" "r.(?)" "p.(Pro1185=)" "" "0000287812" "00008019" "10" "3709" "0" "3709" "0" "c.3709C>G" "r.(?)" "p.(Leu1237Val)" "" "0000287813" "00008019" "30" "5136" "0" "5136" "0" "c.5136T>G" "r.(?)" "p.(Ser1712=)" "" "0000287814" "00008019" "30" "531" "0" "531" "0" "c.531G>A" "r.(?)" "p.(Ser177=)" "" "0000287815" "00008019" "50" "62" "0" "62" "0" "c.62G>T" "r.(?)" "p.(Gly21Val)" "" "0000287816" "00008019" "10" "762" "0" "762" "0" "c.762G>A" "r.(?)" "p.(Leu254=)" "" "0000506572" "00008019" "50" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Gly148Trp)" "" "0000506574" "00008019" "30" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Pro318Leu)" "" "0000506576" "00008019" "30" "1764" "0" "1764" "0" "c.1764G>A" "r.(?)" "p.(Thr588=)" "" "0000506577" "00008019" "30" "1932" "0" "1932" "0" "c.1932A>G" "r.(?)" "p.(Glu644=)" "" "0000506579" "00008019" "30" "2423" "0" "2423" "0" "c.2423C>T" "r.(?)" "p.(Ser808Leu)" "" "0000506580" "00008019" "50" "2540" "0" "2540" "0" "c.2540C>T" "r.(?)" "p.(Ser847Phe)" "" "0000506582" "00008019" "30" "2572" "0" "2572" "0" "c.2572C>A" "r.(?)" "p.(Pro858Thr)" "" "0000506588" "00008019" "10" "2855" "0" "2855" "0" "c.2855C>G" "r.(?)" "p.(Ala952Gly)" "" "0000506591" "00008019" "30" "2864" "0" "2864" "0" "c.2864C>T" "r.(?)" "p.(Pro955Leu)" "" "0000506594" "00008019" "30" "2897" "0" "2897" "0" "c.2897T>C" "r.(?)" "p.(Leu966Pro)" "" "0000506595" "00008019" "30" "2910" "0" "2910" "0" "c.2910T>A" "r.(?)" "p.(Leu970=)" "" "0000506596" "00008019" "30" "2919" "0" "3017" "0" "c.2919_3017del" "r.(?)" "p.(Ala1072_Gly1104del)" "" "0000506601" "00008019" "10" "3027" "0" "3027" "0" "c.3027C>T" "r.(?)" "p.(Pro1009=)" "" "0000506609" "00008019" "30" "3600" "0" "3600" "0" "c.3600T>A" "r.(?)" "p.(Pro1200=)" "" "0000506610" "00008019" "10" "3794" "0" "3794" "0" "c.3794C>T" "r.(?)" "p.(Pro1265Leu)" "" "0000506611" "00008019" "30" "3882" "0" "3882" "0" "c.3882G>A" "r.(?)" "p.(Lys1294=)" "" "0000506613" "00008019" "30" "5074" "0" "5074" "0" "c.5074G>A" "r.(?)" "p.(Glu1692Lys)" "" "0000605573" "00008019" "30" "2572" "0" "2572" "0" "c.2572C>A" "r.(?)" "p.(Pro858Thr)" "" "0000605574" "00008019" "30" "2852" "0" "2853" "0" "c.2852_2853insA" "r.(?)" "p.(Ala952GlyfsTer301)" "" "0000605575" "00008019" "30" "2888" "0" "2889" "0" "c.2888_2889insAATACCTCCTCCACCCCCTCTACCCGGAGCGGG" "r.(?)" "p.(Pro955_Pro965dup)" "" "0000605576" "00008019" "30" "3327" "0" "3329" "0" "c.3327_3329del" "r.(?)" "p.(Pro1112del)" "" "0000647643" "00008019" "50" "5072" "0" "5072" "0" "c.5072C>T" "r.(?)" "p.(Ala1691Val)" "" "0000653974" "00008019" "90" "4330" "0" "4330" "0" "c.4330del" "r.(?)" "p.(Ile1444SerfsTer38)" "" "0000675771" "00008019" "30" "2167" "0" "2167" "0" "c.2167C>G" "r.(?)" "p.(Leu723Val)" "" "0000675772" "00008019" "30" "2839" "0" "2840" "0" "c.2839_2840insTTCTTCCCGGGGCAGGCATACCCCTTCCTCCCC" "r.(?)" "p.(Pro946_Pro947insLeuLeuProGlyAlaGlyIleProLeuProPro)" "" "0000683553" "00008019" "90" "3335" "0" "3335" "0" "c.3335del" "r.(?)" "p.(Pro1112Leufs*163)" "" "0000688108" "00008019" "30" "3276" "0" "3276" "0" "c.3276C>T" "r.(?)" "p.(Pro1092=)" "" "0000717354" "00008019" "50" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000717355" "00008019" "90" "1843" "0" "1843" "0" "c.1843G>T" "r.(?)" "p.(Glu615*)" "" "0000717356" "00008019" "50" "4690" "0" "4690" "0" "c.4690G>T" "r.(?)" "p.(Asp1564Tyr)" "" "0000764081" "00008019" "90" "1394" "0" "1394" "0" "c.1394dup" "r.(?)" "p.(Ala466GlyfsTer19)" "" "0000764082" "00008019" "90" "1394" "0" "1394" "0" "c.1394dup" "r.(?)" "p.(Ala466GlyfsTer19)" "" "0000764083" "00008019" "90" "2515" "0" "2515" "0" "c.2515del" "r.(?)" "p.(Thr839ProfsTer48)" "" "0000764084" "00008019" "90" "2515" "0" "2515" "0" "c.2515del" "r.(?)" "p.(Thr839ProfsTer48)" "" "0000764085" "00008019" "90" "2515" "0" "2515" "0" "c.2515del" "r.(?)" "p.(Thr839ProfsTer48)" "" "0000817934" "00008019" "90" "4065" "1" "4065" "1" "c.4065+1G>T" "r.spl" "p.?" "" "0000848659" "00008019" "30" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Ala458Thr)" "" "0000848660" "00008019" "30" "2883" "0" "2915" "0" "c.2883_2915del" "r.(?)" "p.(Leu966_Pro976del)" "" "0000848661" "00008019" "30" "4143" "0" "4143" "0" "c.4143C>T" "r.(?)" "p.(Asp1381=)" "" "0000857387" "00008019" "30" "1897" "0" "1897" "0" "c.1897G>A" "r.(?)" "p.(Asp633Asn)" "" "0000857388" "00008019" "50" "2806" "0" "2814" "0" "c.2806_2814del" "r.(?)" "p.(Pro936_Pro938del)" "" "0000857389" "00008019" "50" "2816" "0" "2839" "0" "c.2816_2839del" "r.(?)" "p.(Gly939_Pro947delinsAla)" "" "0000868641" "00008019" "70" "1949" "0" "1949" "0" "c.1949C>T" "r.(?)" "p.(Ser650Leu)" "" "0000869665" "00008019" "70" "1967" "0" "1967" "0" "c.1967G>A" "r.(?)" "p.(Arg656His)" "" "0000911011" "00008019" "30" "1259" "0" "1259" "0" "c.1259A>C" "r.(?)" "p.(Lys420Thr)" "" "0000911012" "00008019" "50" "2840" "0" "2840" "0" "c.2840del" "r.(?)" "p.(Pro947Leufs*328)" "" "0000911013" "00008019" "50" "2842" "0" "2873" "0" "c.2842_2873del" "r.(?)" "p.(Leu948Serfs*294)" "" "0000923136" "00008019" "30" "696" "0" "696" "0" "c.696T>C" "r.(?)" "p.(Pro232=)" "" "0000973815" "00008019" "50" "319" "0" "319" "0" "c.319G>T" "r.(?)" "p.(Glu107*)" "" "0000973816" "00008019" "30" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Asp344Asn)" "" "0000973817" "00008019" "50" "1258" "0" "1258" "0" "c.1258A>G" "r.(?)" "p.(Lys420Glu)" "" "0000973818" "00008019" "50" "1605" "0" "1605" "0" "c.1605C>G" "r.(?)" "p.(Asn535Lys)" "" "0000973819" "00008019" "50" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Cys)" "" "0000973820" "00008019" "50" "2828" "0" "2828" "0" "c.2828C>T" "r.(?)" "p.(Pro943Leu)" "" "0000973821" "00008019" "50" "2914" "0" "2914" "0" "c.2914G>A" "r.(?)" "p.(Gly972Arg)" "" "0000973822" "00008019" "30" "3078" "0" "3078" "0" "c.3078C>T" "r.(?)" "p.(=)" "" "0000973823" "00008019" "50" "3178" "0" "3178" "0" "c.3178G>A" "r.(?)" "p.(Gly1060Arg)" "" "0000973824" "00008019" "30" "3390" "0" "3390" "0" "c.3390C>T" "r.(?)" "p.(=)" "" "0000973825" "00008019" "50" "3413" "0" "3413" "0" "c.3413C>T" "r.(?)" "p.(Ala1138Val)" "" "0000973826" "00008019" "30" "3600" "0" "3600" "0" "c.3600T>A" "r.(?)" "p.(Pro1200=)" "" "0000973827" "00008019" "50" "4123" "0" "4123" "0" "c.4123C>A" "r.(?)" "p.(Leu1375Ile)" "" "0000991034" "00008019" "30" "911" "0" "911" "0" "c.911C>A" "r.(?)" "p.(Ala304Glu)" "" "0000991035" "00008019" "30" "1690" "0" "1690" "0" "c.1690C>T" "r.(?)" "p.(Arg564Trp)" "" "0000991036" "00008019" "50" "2257" "0" "2257" "0" "c.2257G>T" "r.(?)" "p.(Gly753Trp)" "" "0000991037" "00008019" "30" "2275" "0" "2275" "0" "c.2275C>T" "r.(?)" "p.(Pro759Ser)" "" "0000991038" "00008019" "50" "2953" "0" "2953" "0" "c.2953G>A" "r.(?)" "p.(Gly985Ser)" "" "0000991039" "00008019" "30" "3380" "0" "3380" "0" "c.3380C>T" "r.(?)" "p.(Ala1127Val)" "" "0000991040" "00008019" "30" "4975" "0" "4975" "0" "c.4975A>T" "r.(?)" "p.(Asn1659Tyr)" "" "0001031875" "00008019" "50" "626" "0" "637" "0" "c.626_637del" "r.(?)" "p.(Gln209_Gln212del)" "" "0001031876" "00008019" "50" "694" "0" "694" "0" "c.694C>G" "r.(?)" "p.(Pro232Ala)" "" "0001031877" "00008019" "30" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Pro653Leu)" "" "0001031878" "00008019" "50" "2231" "0" "2231" "0" "c.2231T>A" "r.(?)" "p.(Ile744Lys)" "" "0001031879" "00008019" "50" "2486" "0" "2486" "0" "c.2486C>T" "r.(?)" "p.(Pro829Leu)" "" "0001031880" "00008019" "30" "2522" "0" "2522" "0" "c.2522A>G" "r.(?)" "p.(His841Arg)" "" "0001031881" "00008019" "50" "2890" "0" "2890" "0" "c.2890A>G" "r.(?)" "p.(Ile964Val)" "" "0001031882" "00008019" "50" "2999" "0" "2999" "0" "c.2999C>T" "r.(?)" "p.(Pro1000Leu)" "" "0001031883" "00008019" "30" "3039" "0" "3039" "0" "c.3039T>A" "r.(?)" "p.(=)" "" "0001031884" "00008019" "50" "3067" "0" "3067" "0" "c.3067C>A" "r.(?)" "p.(Pro1023Thr)" "" "0001031885" "00008019" "50" "3098" "0" "3098" "0" "c.3098C>T" "r.(?)" "p.(Pro1033Leu)" "" "0001031886" "00008019" "30" "3111" "0" "3111" "0" "c.3111C>T" "r.(?)" "p.(=)" "" "0001031887" "00008019" "50" "3218" "0" "3218" "0" "c.3218G>C" "r.(?)" "p.(Gly1073Ala)" "" "0001031888" "00008019" "30" "3230" "0" "3230" "0" "c.3230C>T" "r.(?)" "p.(Pro1077Leu)" "" "0001031889" "00008019" "30" "3281" "0" "3281" "0" "c.3281C>T" "r.(?)" "p.(Ala1094Val)" "" "0001031890" "00008019" "30" "3350" "0" "3350" "0" "c.3350G>T" "r.(?)" "p.(Gly1117Val)" "" "0001031891" "00008019" "30" "3461" "0" "3461" "0" "c.3461C>T" "r.(?)" "p.(Pro1154Leu)" "" "0001031892" "00008019" "50" "3512" "0" "3512" "0" "c.3512C>T" "r.(?)" "p.(Ala1171Val)" "" "0001031893" "00008019" "50" "4167" "0" "4167" "0" "c.4167G>C" "r.(?)" "p.(Leu1389Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000290954" "0000647643" "0000309090" "0000683553" "0000363427" "0000764081" "0000363428" "0000764082" "0000363429" "0000764083" "0000363430" "0000764084" "0000363431" "0000764085" "0000389141" "0000817934" "0000411505" "0000868641" "0000412335" "0000869665"