### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MTFMT) # 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}}" "MTFMT" "mitochondrial methionyl-tRNA formyltransferase" "15" "q22.31" "unknown" "NC_000015.9" "UD_132118790100" "" "https://www.LOVD.nl/MTFMT" "" "1" "29666" "123263" "611766" "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/MTFMT_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-23 13:50:01" "00000" "2025-11-01 13:22:20" ## 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}}" "00014011" "MTFMT" "mitochondrial methionyl-tRNA formyltransferase" "001" "NM_139242.3" "" "NP_640335.2" "" "" "" "-26" "2720" "1170" "65321977" "65293850" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01151" "COXPD15" "combined oxidative phosphorylation deficiency, type 15 (COXPD-15)" "AR" "614947" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" "06275" "MC1DN27" "Mi complex I deficiency, nuclear type 27" "AR" "618248" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MTFMT" "01151" "MTFMT" "06275" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00003019" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00036271" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036272" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036273" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00274200" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "M" "" "Poland" "" "0" "" "" "" "Pat91" "00291275" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291276" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291277" "" "" "" "177" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296585" "" "" "" "2" "" "00006" "{PMID:Kemp 2011:21169334}, {PMID:Taylor 2014:25058219}" "2 affected" "F" "" "Germany" "" "0" "" "" "" "Pat18" "00296586" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "British" "Pat19" "00303626" "" "" "" "2" "" "00006" "{PMID:Makrythanasis 2014:25044680}" "family, 2 affected" "" "yes" "Egypt" "" "0" "" "" "" "Family_36" "00304475" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00454707" "" "" "" "1" "" "00095" "{PMID:Legati 2016:26968897}" "" "F" "" "" "" "0" "" "" "" "NGSP18" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00003019" "00198" "00036271" "00198" "00036272" "00198" "00036273" "00198" "00274200" "00198" "00291275" "00198" "00291276" "00198" "00291277" "00198" "00296585" "00198" "00296586" "00198" "00303626" "00198" "00304475" "00198" "00454707" "05534" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01151, 05534, 06275 ## 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}}" "0000001870" "00198" "00003019" "00130" "Isolated (sporadic)" "" "PMR, epilepsy, myopathy, dystonia Leigh syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000156431" "00198" "00036271" "01164" "Unknown" "" "suspected Morbus Leigh" "" "" "" "" "" "" "" "" "" "Morbus Leigh?" "" "0000156432" "00198" "00036272" "01164" "Unknown" "" "suspected Morbus Leigh" "" "" "" "" "" "" "" "" "" "Morbus Leigh?" "" "0000156433" "00198" "00036273" "01164" "Unknown" "" "suspected Morbus Leigh" "" "" "" "" "" "" "" "" "" "Morbus Leigh?" "" "0000209145" "00198" "00274200" "00006" "Familial, autosomal recessive" "" "deceased; mitochondrial disease criteria score 6; muscle biopsy" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000223991" "00198" "00296585" "00006" "Isolated (sporadic)" "16y" "muscle not affected; central nervous system not affected; heart not affected; liver not affected; lactic acidosis" "3y" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000223992" "00198" "00296586" "00006" "Unknown" "20y" "muscle affected; central nervous system affected; heart affected; liver not affected; mild sensory neuropathy" "1d" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000230690" "00198" "00303626" "00006" "Familial, autosomal recessive" "" "see paper; ..., syndromic intellectual disability/developmental delay" "" "" "" "" "" "" "" "" "" "syndromic ID/DD" "" "0000343335" "05534" "00454707" "00095" "Familial, autosomal recessive" "" "pshycomotor delay, dystonia, Leigh syndrome" "3y" "" "" "" "" "" "" "" "" "multiple RC complex defect" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002925" "00003019" "2" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000036341" "00036271" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036342" "00036272" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036343" "00036273" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000275355" "00274200" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000292443" "00291275" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292444" "00291276" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292445" "00291277" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297695" "00296585" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297696" "00296586" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304754" "00303626" "1" "00006" "00006" "2020-06-17 11:20:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000305604" "00304475" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000456320" "00454707" "1" "00095" "00006" "2024-09-25 11:50:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000002925" "MTFMT" "0000036341" "MTFMT" "0000036342" "MTFMT" "0000036343" "MTFMT" "0000275355" "MTFMT" "0000304754" "MAN1B1" "0000304754" "MTFMT" ## 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 = 31 "{{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}}" "0000021299" "1" "70" "15" "65308821" "65308821" "subst" "0" "00130" "MTFMT_000005" "g.65308821G>A" "" "{PMID:Neveling 2013:24123792}" "" "" "-" "Unknown" "?" "" "" "" "" "g.65016483G>A" "" "likely pathogenic" "" "0000021300" "2" "70" "15" "65313871" "65313871" "subst" "0.00033716" "00130" "MTFMT_000004" "g.65313871G>A" "" "{PMID:Neveling 2013:24123792}" "" "" "-" "Unknown" "?" "" "0" "" "" "g.65021533G>A" "" "likely pathogenic" "" "0000063466" "1" "10" "15" "65294059" "65294059" "subst" "0" "01164" "MTFMT_000001" "g.65294059G>A" "" "" "" "" "" "Germline" "" "rs10431803" "0" "" "" "g.65001721G>A" "" "benign" "" "0000063467" "1" "10" "15" "65315961" "65315961" "subst" "0.421603" "01164" "MTFMT_000003" "g.65315961T>C" "" "" "" "" "" "Germline" "" "rs4776661" "0" "" "" "g.65023623T>C" "" "benign" "" "0000063468" "1" "10" "15" "65294903" "65294903" "subst" "0" "01164" "MTFMT_000002" "g.65294903A>G" "" "" "" "" "" "Germline" "" "rs11635570" "0" "" "" "g.65002565A>G" "" "benign" "" "0000253888" "0" "10" "15" "65312628" "65312628" "del" "0" "01943" "MTFMT_000006" "g.65312628del" "" "" "" "MTFMT(NM_139242.3):c.646-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65020290del" "" "benign" "" "0000555139" "0" "50" "15" "65295455" "65295455" "del" "0" "01943" "MTFMT_000009" "g.65295455del" "" "" "" "MTFMT(NM_139242.3):c.1116delT (p.P373Qfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65003117del" "" "VUS" "" "0000555141" "0" "30" "15" "65321918" "65321918" "subst" "0.000214807" "01943" "MTFMT_000010" "g.65321918G>T" "" "" "" "MTFMT(NM_139242.3):c.34C>A (p.P12T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65029580G>T" "" "likely benign" "" "0000629319" "1" "90" "15" "65295576" "65295576" "subst" "8.98965E-5" "00006" "MTFMT_000013" "g.65295576G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.65003238G>A" "" "pathogenic" "" "0000629357" "2" "90" "15" "65313871" "65313871" "subst" "0.00033716" "00006" "MTFMT_000004" "g.65313871G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.65021533G>A" "" "pathogenic" "" "0000649132" "1" "10" "15" "65312589" "65312589" "subst" "0.00366825" "03575" "MTFMT_000014" "g.65312589A>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs188461284}" "Germline" "" "rs188461284" "0" "" "" "g.65020251A>T" "" "benign" "" "0000649133" "1" "70" "15" "65313871" "65313871" "subst" "0.00033716" "03575" "MTFMT_000004" "g.65313871G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs201431517}" "Germline" "" "rs201431517" "0" "" "" "g.65021533G>A" "" "likely pathogenic" "" "0000649134" "1" "10" "15" "65321938" "65321938" "subst" "0.0439685" "03575" "MTFMT_000015" "g.65321938A>G" "177/2781 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "177 heterozygous; {DB:CLININrs2946655}" "Germline" "" "rs2946655" "0" "" "" "g.65029600A>G" "" "benign" "" "0000660304" "1" "90" "15" "65316100" "65316100" "subst" "8.14764E-6" "00006" "MTFMT_000017" "g.65316100G>A" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.65023762G>A" "" "pathogenic (recessive)" "" "0000660305" "1" "90" "15" "65313871" "65313871" "subst" "0.00033716" "00006" "MTFMT_000004" "g.65313871G>A" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.65021533G>A" "" "pathogenic (recessive)" "" "0000660341" "2" "90" "15" "65295576" "65295576" "subst" "8.98965E-5" "00006" "MTFMT_000013" "g.65295576G>A" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.65003238G>A" "" "pathogenic (recessive)" "" "0000660342" "2" "90" "15" "65295470" "65295471" "del" "0" "00006" "MTFMT_000016" "g.65295470_65295471del" "" "{PMID:Taylor 2014:25058219}" "" "c.1100_1101delTT" "" "Germline" "" "" "0" "" "" "g.65003132_65003133del" "" "pathogenic (recessive)" "" "0000668258" "3" "90" "15" "65321935" "65321935" "subst" "0.000182959" "00006" "MTFMT_000018" "g.65321935C>G" "" "{PMID:Makrythanasis 2014:25044680}" "" "" "carries two likely pathogenic variants" "Germline" "" "" "0" "" "" "g.65029597C>G" "" "likely pathogenic (recessive)" "" "0000669292" "3" "10" "15" "65321938" "65321938" "subst" "0.0439685" "03575" "MTFMT_000015" "g.65321938A>G" "12/2781 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 homozygous; {DB:CLININrs2946655}" "Germline" "" "rs2946655" "0" "" "" "g.65029600A>G" "" "benign" "" "0000680257" "0" "90" "15" "65319368" "65319371" "del" "1.63131E-5" "01943" "MTFMT_000019" "g.65319368_65319371del" "" "" "" "MTFMT(NM_139242.3):c.219_222delAGAA (p.E74Kfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691832" "0" "90" "15" "65313871" "65313871" "subst" "0.00033716" "02327" "MTFMT_000004" "g.65313871G>A" "" "" "" "MTFMT(NM_139242.3):c.626C>T (p.S209L), MTFMT(NM_139242.4):c.626C>T (p.S209L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725244" "0" "50" "15" "65313871" "65313871" "subst" "0.00033716" "01943" "MTFMT_000004" "g.65313871G>A" "" "" "" "MTFMT(NM_139242.3):c.626C>T (p.S209L), MTFMT(NM_139242.4):c.626C>T (p.S209L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725245" "0" "90" "15" "65313871" "65313871" "subst" "0.00033716" "02329" "MTFMT_000004" "g.65313871G>A" "" "" "" "MTFMT(NM_139242.3):c.626C>T (p.S209L), MTFMT(NM_139242.4):c.626C>T (p.S209L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725246" "0" "90" "15" "65321926" "65321926" "subst" "0" "02329" "MTFMT_000011" "g.65321926C>T" "" "" "" "MTFMT(NM_139242.4):c.26G>A (p.W9*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854128" "0" "90" "15" "65295576" "65295576" "subst" "8.98965E-5" "01943" "MTFMT_000013" "g.65295576G>A" "" "" "" "MTFMT(NM_139242.3):c.994C>T (p.R332*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981352" "0" "50" "15" "65321951" "65321951" "subst" "0" "01804" "MTFMT_000020" "g.65321951T>G" "" "" "" "MTFMT(NM_139242.4):c.1A>C (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008566" "1" "90" "15" "65313871" "65313871" "subst" "0.00033716" "00095" "MTFMT_000004" "g.65313871G>A" "" "{PMID:Legati 2016:26968897}" "" "S209L" "" "Germline" "" "" "0" "" "" "g.65021533G>A" "" "pathogenic" "" "0001008590" "2" "90" "15" "65321879" "65321879" "subst" "0" "00095" "MTFMT_000021" "g.65321879G>A" "" "{PMID:Legati 2016:26968897}" "" "Q25*" "" "Germline" "" "" "0" "" "" "g.65029541G>A" "" "pathogenic" "" "0001015219" "0" "90" "15" "65313871" "65313871" "subst" "0.00033716" "02325" "MTFMT_000004" "g.65313871G>A" "" "" "" "MTFMT(NM_139242.3):c.626C>T (p.S209L), MTFMT(NM_139242.4):c.626C>T (p.S209L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001055163" "0" "50" "15" "65295445" "65295447" "del" "0" "01804" "MTFMT_000022" "g.65295445_65295447del" "" "" "" "MTFMT(NM_139242.4):c.1129_1131del (p.(Lys377del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055164" "0" "50" "15" "65321935" "65321935" "subst" "0.000182959" "01804" "MTFMT_000018" "g.65321935C>G" "" "" "" "MTFMT(NM_139242.4):c.17G>C (p.(Arg6Pro))" "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 MTFMT ## Count = 31 "{{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}}" "0000021299" "00014011" "70" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Gln256*)" "-" "0000021300" "00014011" "70" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ser209Leu)" "-" "0000063466" "00014011" "10" "2511" "0" "2511" "0" "c.*1341C>T" "r.(=)" "p.(=)" "" "0000063467" "00014011" "10" "542" "49" "542" "49" "c.542+49A>G" "r.(=)" "p.(=)" "" "0000063468" "00014011" "10" "1667" "0" "1667" "0" "c.*497T>C" "r.(=)" "p.(=)" "" "0000253888" "00014011" "10" "646" "-5" "646" "-5" "c.646-5del" "r.spl?" "p.?" "" "0000555139" "00014011" "50" "1116" "0" "1116" "0" "c.1116del" "r.(?)" "p.(Pro373GlnfsTer19)" "" "0000555141" "00014011" "30" "34" "0" "34" "0" "c.34C>A" "r.(?)" "p.(Pro12Thr)" "" "0000629319" "00014011" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "" "0000629357" "00014011" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ser209Leu)" "" "0000649132" "00014011" "10" "667" "0" "667" "0" "c.667T>A" "r.(?)" "p.(Leu223Met)" "" "0000649133" "00014011" "70" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ser209Leu)" "" "0000649134" "00014011" "10" "14" "0" "14" "0" "c.14T>C" "r.(?)" "p.(Val5Ala)" "" "0000660304" "00014011" "90" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Pro151Leu)" "" "0000660305" "00014011" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ser209Leu)" "" "0000660341" "00014011" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "" "0000660342" "00014011" "90" "1100" "0" "1101" "0" "c.1100_1101del" "r.(?)" "p.(Phe367Serfs*22)" "" "0000668258" "00014011" "90" "17" "0" "17" "0" "c.17G>C" "r.(?)" "p.(Arg6Pro)" "" "0000669292" "00014011" "10" "14" "0" "14" "0" "c.14T>C" "r.(?)" "p.(Val5Ala)" "" "0000680257" "00014011" "90" "219" "0" "222" "0" "c.219_222del" "r.(?)" "p.(Glu74LysfsTer3)" "" "0000691832" "00014011" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ser209Leu)" "" "0000725244" "00014011" "50" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ser209Leu)" "" "0000725245" "00014011" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ser209Leu)" "" "0000725246" "00014011" "90" "26" "0" "26" "0" "c.26G>A" "r.(?)" "p.(Trp9Ter)" "" "0000854128" "00014011" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "" "0000981352" "00014011" "50" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.?" "" "0001008566" "00014011" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ser209Leu)" "" "0001008590" "00014011" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Gln25Ter)" "" "0001015219" "00014011" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ser209Leu)" "" "0001055163" "00014011" "50" "1129" "0" "1131" "0" "c.1129_1131del" "r.(?)" "p.(Lys377del)" "" "0001055164" "00014011" "50" "17" "0" "17" "0" "c.17G>C" "r.(?)" "p.(Arg6Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000002925" "0000021299" "0000002925" "0000021300" "0000036341" "0000063466" "0000036342" "0000063467" "0000036343" "0000063468" "0000275355" "0000629319" "0000275355" "0000629357" "0000292443" "0000649132" "0000292444" "0000649133" "0000292445" "0000649134" "0000297695" "0000660304" "0000297695" "0000660341" "0000297696" "0000660305" "0000297696" "0000660342" "0000304754" "0000668258" "0000305604" "0000669292" "0000456320" "0001008566" "0000456320" "0001008590"