### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MTRR) # 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}}" "MTRR" "5-methyltetrahydrofolate-homocysteine methyltransferase reductase" "5" "p15.31" "unknown" "NC_000005.9" "UD_132085390239" "" "https://www.LOVD.nl/MTRR" "" "1" "7473" "4552" "602568" "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/MTRR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-27 15:49:25" "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}}" "00014058" "MTRR" "transcript variant 1" "001" "NM_002454.2" "" "NP_002445.2" "" "" "" "-137" "3163" "2097" "7869217" "7901237" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "01846" "HMAE" "anemia, homocystinuria-megaloblastic, cblE complementation type (HMAE)" "AR" "236270" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02381" "NTDFS" "neural tube defects, folate-sensitive (NTDFS)" "AR" "601634" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MTRR" "00139" "MTRR" "01846" "MTRR" "02381" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00293914" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293915" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293916" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293917" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00454800" "" "" "" "1" "" "00006" "{PMID:Wilson 1999:10484769}" "2-generation family, 1 affected, unaffected parents" "" "" "Canada" "5y" "0" "" "" "" "1384/PatSM" "00454801" "" "" "" "1" "" "00006" "{PMID:Wilson 1999:10484769}" "2-generation family, 1 affected, unaffected parents" "" "" "Canada" "" "0" "" "" "" "2366" "00454802" "" "" "" "1" "" "00006" "{PMID:Wilson 1999:10484769}" "2-generation family, 1 affected, unaffected parents" "" "" "Canada" "" "0" "" "" "" "1296/PatNJ" "00454803" "" "" "" "1" "" "00006" "{PMID:Wilson 1999:10484769}" "2-generation family, 1 affected, unaffected parents" "" "" "Canada" "" "0" "" "" "" "2317" "00454804" "" "" "" "2" "" "00006" "{PMID:Leclerc 1998:9501215}, {PMID:Wilson 1999:10484769}" "2-generation family, 2 affected sibs, unaffected parents" "" "" "Canada" "" "0" "" "" "" "788" "00454805" "" "" "00454804" "1" "" "00006" "{PMID:Leclerc 1998:9501215}, {PMID:Wilson 1999:10484769}" "younger brother" "M" "" "Canada" "" "0" "" "" "" "1146" "00454806" "" "" "" "1" "" "00006" "{PMID:Wilson 1999:10484769}" "2-generation family, 1 affected, unaffected parents" "" "" "Canada" "" "0" "" "" "" "1401/PatBSS" "00454807" "" "" "" "1" "" "00006" "{PMID:Wilson 1999:10484769}" "2-generation family, 1 affected, unaffected parents" "" "" "Canada" "" "0" "" "" "" "1575" "00454809" "" "" "" "1" "" "00006" "{PMID:Wilson 1999:10484769}" "" "" "" "Canada" "" "0" "" "" "" "control" "00454813" "" "" "" "1" "" "00006" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Turkey" "" "0" "" "" "" "Pat1" "00454814" "" "" "" "1" "" "00006" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat2" "00454815" "" "" "" "1" "" "00006" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Germany" "" "0" "" "" "" "Pat3" "00454816" "" "" "" "1" "" "00006" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Spain" "" "0" "" "" "" "Pat4" "00454817" "" "" "" "1" "" "00006" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Portugal" "" "0" "" "" "" "Pat5" "00454818" "" "" "" "1" "" "00006" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Germany;Portugal" "" "0" "" "" "" "Pat6" "00454819" "" "" "" "1" "" "00006" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat7" "00454820" "" "" "" "1" "" "00006" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Poland" "" "0" "" "" "" "Pat8" "00454821" "" "" "" "1" "" "00006" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Germany" "" "0" "" "" "" "Pat9" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00293914" "00198" "00293915" "00198" "00293916" "00198" "00293917" "00198" "00454800" "00198" "00454801" "00198" "00454802" "00198" "00454803" "00198" "00454804" "00198" "00454805" "00198" "00454806" "00198" "00454807" "00198" "00454809" "00000" "00454813" "00198" "00454814" "00198" "00454815" "00198" "00454816" "00198" "00454817" "00198" "00454818" "00198" "00454819" "00198" "00454820" "00198" "00454821" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01846, 02381 ## Count = 17 "{{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}}" "0000343411" "00198" "00454800" "00006" "Familial, autosomal recessive" "" "5y-deceased" "" "" "" "" "" "" "" "" "HMAE" "methionine synthase reductase deficiency" "" "0000343412" "00198" "00454801" "00006" "Familial, autosomal recessive" "11m" "megaloblastic anemia, hyperhomocysteinemia, mild developmental delay" "" "" "" "" "" "" "" "" "HMAE" "methionine synthase reductase deficiency" "" "0000343413" "00198" "00454802" "00006" "Familial, autosomal recessive" "2y" "microcephaly, significant mental retardation, severe megaloblastic anemia" "" "" "" "" "" "" "" "" "HMAE" "methionine synthase reductase deficiency" "" "0000343414" "00198" "00454803" "00006" "Familial, autosomal recessive" "25y" "onset 21d" "" "" "" "" "" "" "" "" "HMAE" "methionine synthase reductase deficiency" "" "0000343415" "00198" "00454804" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HMAE" "methionine synthase reductase deficiency" "" "0000343416" "00198" "00454805" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HMAE" "methionine synthase reductase deficiency" "" "0000343417" "00198" "00454806" "00006" "Familial, autosomal recessive" "6m" "megaloblastic anemia, hyperhomocysteinemia, mild methylmalonic aciduria" "" "" "" "" "" "" "" "" "HMAE" "methionine synthase reductase deficiency" "" "0000343418" "00198" "00454807" "00006" "Familial, autosomal recessive" "" "microcephaly, developmental delay, megaloblastic anemia" "" "" "" "" "" "" "" "" "HMAE" "methionine synthase reductase deficiency" "" "0000343423" "00198" "00454813" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMAE" "cblE type of homocystinuria" "" "0000343424" "00198" "00454814" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMAE" "cblE type of homocystinuria" "" "0000343425" "00198" "00454815" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMAE" "cblE type of homocystinuria" "" "0000343426" "00198" "00454816" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMAE" "cblE type of homocystinuria" "" "0000343427" "00198" "00454817" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMAE" "cblE type of homocystinuria" "" "0000343428" "00198" "00454818" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMAE" "cblE type of homocystinuria" "" "0000343429" "00198" "00454819" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMAE" "cblE type of homocystinuria" "" "0000343430" "00198" "00454820" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMAE" "cblE type of homocystinuria" "" "0000343431" "00198" "00454821" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMAE" "cblE type of homocystinuria" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295082" "00293914" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295083" "00293915" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295084" "00293916" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295085" "00293917" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000456411" "00454800" "1" "00006" "00006" "2024-09-27 16:50:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456412" "00454801" "1" "00006" "00006" "2024-09-27 16:50:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456413" "00454802" "1" "00006" "00006" "2024-09-27 16:50:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456414" "00454803" "1" "00006" "00006" "2024-09-27 16:50:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456415" "00454804" "1" "00006" "00006" "2024-09-27 16:50:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456416" "00454805" "1" "00006" "00006" "2024-09-27 16:50:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456417" "00454806" "1" "00006" "00006" "2024-09-27 16:50:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456418" "00454807" "1" "00006" "00006" "2024-09-27 16:50:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456420" "00454809" "1" "00006" "00006" "2024-09-27 17:14:52" "" "" "SEQ" "DNA" "" "" "0000456424" "00454813" "1" "00006" "00006" "2024-09-27 18:39:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456425" "00454814" "1" "00006" "00006" "2024-09-27 18:39:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456426" "00454815" "1" "00006" "00006" "2024-09-27 18:39:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456427" "00454816" "1" "00006" "00006" "2024-09-27 18:39:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456428" "00454817" "1" "00006" "00006" "2024-09-27 18:39:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456429" "00454818" "1" "00006" "00006" "2024-09-27 18:39:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456430" "00454819" "1" "00006" "00006" "2024-09-27 18:39:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456431" "00454820" "1" "00006" "00006" "2024-09-27 18:39:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000456432" "00454821" "1" "00006" "00006" "2024-09-27 18:39:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000456411" "MTRR" "0000456412" "MTRR" "0000456413" "MTRR" "0000456414" "MTRR" "0000456415" "MTRR" "0000456416" "MTRR" "0000456417" "MTRR" "0000456418" "MTRR" "0000456420" "MTRR" "0000456424" "MTRR" "0000456425" "MTRR" "0000456426" "MTRR" "0000456427" "MTRR" "0000456428" "MTRR" "0000456429" "MTRR" "0000456430" "MTRR" "0000456431" "MTRR" "0000456432" "MTRR" ## 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 = 113 "{{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}}" "0000246323" "0" "10" "5" "7870973" "7870973" "subst" "0.467783" "02330" "MTRR_000002" "g.7870973A>G" "" "" "" "MTRR(NM_002454.3):c.66A>G (p.I22M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7870860A>G" "" "benign" "" "0000246350" "0" "10" "5" "7885959" "7885959" "subst" "0.174765" "02330" "MTRR_000008" "g.7885959A>G" "" "" "" "MTRR(NM_002454.3):c.1049A>G (p.K350R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7885846A>G" "" "benign" "" "0000246377" "0" "30" "5" "7900056" "7900056" "subst" "0.00186146" "02330" "MTRR_000017" "g.7900056A>G" "" "" "" "MTRR(NM_002454.3):c.1982A>G (p.H661R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7899943A>G" "" "likely benign" "" "0000246383" "0" "30" "5" "7892937" "7892937" "subst" "0.00452408" "02330" "MTRR_000027" "g.7892937A>G" "" "" "" "MTRR(NM_002454.2):c.1468A>G (p.(Thr490Ala)), MTRR(NM_002454.3):c.1468A>G (p.T490A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7892824A>G" "" "likely benign" "" "0000248397" "0" "10" "5" "7870973" "7870973" "subst" "0.467783" "02325" "MTRR_000002" "g.7870973A>G" "" "" "" "MTRR(NM_002454.3):c.66A>G (p.I22M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7870860A>G" "" "benign" "" "0000280087" "0" "10" "5" "7869235" "7869235" "subst" "0.16265" "02330" "MTRR_000001" "g.7869235T>C" "" "" "" "MTRR(NM_002454.3):c.-119T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7869122T>C" "" "benign" "" "0000280088" "0" "10" "5" "7889216" "7889216" "subst" "0.061087" "02330" "MTRR_000025" "g.7889216G>A" "" "" "" "MTRR(NM_002454.3):c.1155G>A (p.L385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7889103G>A" "" "benign" "" "0000280089" "0" "10" "5" "7889304" "7889304" "subst" "0.0611964" "02330" "MTRR_000009" "g.7889304C>T" "" "" "" "MTRR(NM_002454.3):c.1243C>T (p.R415C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7889191C>T" "" "benign" "" "0000280090" "0" "30" "5" "7889387" "7889387" "subst" "0.0034047" "02330" "MTRR_000026" "g.7889387C>T" "" "" "" "MTRR(NM_002454.3):c.1326C>T (p.L442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7889274C>T" "" "likely benign" "" "0000280091" "0" "50" "5" "7873516" "7873516" "subst" "0" "02330" "MTRR_000017" "g.7873516G>A" "" "" "" "MTRR(NM_002454.3):c.160G>A (p.V54I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7873403G>A" "" "VUS" "" "0000280092" "0" "10" "5" "7895942" "7895942" "subst" "0.00810271" "02330" "MTRR_000011" "g.7895942G>A" "" "" "" "MTRR(NM_002454.3):c.1653G>A (p.P551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7895829G>A" "" "benign" "" "0000280093" "0" "10" "5" "7896968" "7896968" "del" "0" "02330" "MTRR_000013" "g.7896968del" "" "" "" "MTRR(NM_002454.3):c.1677-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7896855del" "" "benign" "" "0000280095" "0" "10" "5" "7897191" "7897191" "subst" "0.155868" "02330" "MTRR_000014" "g.7897191C>T" "" "" "" "MTRR(NM_002454.3):c.1783C>T (p.H595Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7897078C>T" "" "benign" "" "0000280096" "0" "10" "5" "7897283" "7897283" "subst" "0.171699" "02330" "MTRR_000015" "g.7897283G>A" "" "" "" "MTRR(NM_002454.3):c.1875G>A (p.V625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7897170G>A" "" "benign" "" "0000280097" "0" "10" "5" "7897319" "7897319" "subst" "0.310561" "02330" "MTRR_000016" "g.7897319G>A" "" "" "" "MTRR(NM_002454.3):c.1911G>A (p.A637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7897206G>A" "" "benign" "" "0000280098" "0" "10" "5" "7873566" "7873566" "subst" "0.0024729" "02330" "MTRR_000018" "g.7873566C>G" "" "" "" "MTRR(NM_002454.2):c.210C>G (p.R70=), MTRR(NM_002454.3):c.210C>G (p.R70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7873453C>G" "" "benign" "" "0000280099" "0" "10" "5" "7878179" "7878179" "subst" "0.311477" "02330" "MTRR_000004" "g.7878179C>T" "" "" "" "MTRR(NM_002454.3):c.524C>T (p.S175L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7878066C>T" "" "benign" "" "0000280100" "0" "10" "5" "7878192" "7878192" "subst" "0.174674" "02330" "MTRR_000020" "g.7878192T>C" "" "" "" "MTRR(NM_002454.3):c.537T>C (p.L179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7878079T>C" "" "benign" "" "0000280101" "0" "10" "5" "7878424" "7878424" "subst" "0.0433822" "02330" "MTRR_000021" "g.7878424T>A" "" "" "" "MTRR(NM_002454.3):c.769T>A (p.S257T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7878311T>A" "" "benign" "" "0000280104" "0" "10" "5" "7885907" "7885907" "subst" "0.0102101" "02330" "MTRR_000007" "g.7885907C>G" "" "" "" "MTRR(NM_002454.3):c.997C>G (p.L333V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7885794C>G" "" "benign" "" "0000282676" "0" "10" "5" "7897319" "7897319" "subst" "0.310561" "02325" "MTRR_000016" "g.7897319G>A" "" "" "" "MTRR(NM_002454.3):c.1911G>A (p.A637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7897206G>A" "" "benign" "" "0000282677" "0" "10" "5" "7878179" "7878179" "subst" "0.311477" "02325" "MTRR_000004" "g.7878179C>T" "" "" "" "MTRR(NM_002454.3):c.524C>T (p.S175L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7878066C>T" "" "benign" "" "0000282678" "0" "10" "5" "7885794" "7885794" "dup" "0" "02325" "MTRR_000006" "g.7885794dup" "" "" "" "MTRR(NM_002454.3):c.904-20dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7885681dup" "" "benign" "" "0000282679" "0" "30" "5" "7885793" "7885794" "dup" "0" "02325" "MTRR_000023" "g.7885793_7885794dup" "" "" "" "MTRR(NM_002454.3):c.904-21_904-20dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7885680_7885681dup" "" "likely benign" "" "0000286701" "0" "10" "5" "7885907" "7885907" "subst" "0.0102101" "02326" "MTRR_000007" "g.7885907C>G" "" "" "" "MTRR(NM_002454.3):c.997C>G (p.L333V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7885794C>G" "" "benign" "" "0000292139" "0" "30" "5" "7873566" "7873566" "subst" "0.0024729" "01943" "MTRR_000018" "g.7873566C>G" "" "" "" "MTRR(NM_002454.2):c.210C>G (p.R70=), MTRR(NM_002454.3):c.210C>G (p.R70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7873453C>G" "" "likely benign" "" "0000292140" "0" "30" "5" "7878160" "7878160" "subst" "0.000195" "01943" "MTRR_000019" "g.7878160G>A" "" "" "" "MTRR(NM_002454.2):c.505G>A (p.V169M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7878047G>A" "" "likely benign" "" "0000330251" "0" "50" "5" "7866906" "7866906" "subst" "0.00140128" "01804" "FASTKD3_000001" "g.7866906T>G" "" "" "" "FASTKD3(NM_024091.3):c.1291A>C (p.(Lys431Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7866793T>G" "" "VUS" "" "0000330253" "0" "50" "5" "7867919" "7867919" "subst" "0.000816211" "01804" "FASTKD3_000003" "g.7867919T>C" "" "" "" "FASTKD3(NM_024091.3):c.278A>G (p.(Asn93Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7867806T>C" "" "VUS" "" "0000330254" "0" "50" "5" "7868043" "7868043" "subst" "0" "01804" "FASTKD3_000004" "g.7868043G>C" "" "" "" "FASTKD3(NM_024091.3):c.154C>G (p.(Pro52Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7867930G>C" "" "VUS" "" "0000330257" "0" "30" "5" "7885810" "7885810" "subst" "0" "01804" "MTRR_000051" "g.7885810C>T" "" "" "" "MTRR(NM_002454.2):c.904-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7885697C>T" "" "likely benign" "" "0000330258" "0" "50" "5" "7895863" "7895863" "subst" "8.1246E-6" "01804" "MTRR_000010" "g.7895863G>A" "" "" "" "MTRR(NM_002454.2):c.1574G>A (p.(Arg525Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7895750G>A" "" "VUS" "" "0000526087" "0" "30" "5" "7866822" "7866822" "subst" "0.000989144" "01804" "C5orf49_000002" "g.7866822C>G" "" "" "" "FASTKD3(NM_024091.3):c.1375G>C (p.(Glu459Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7866709C>G" "" "likely benign" "" "0000526088" "0" "50" "5" "7867409" "7867409" "subst" "0" "01804" "C5orf49_000003" "g.7867409A>C" "" "" "" "FASTKD3(NM_024091.3):c.788T>G (p.(Leu263Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7867296A>C" "" "VUS" "" "0000526089" "0" "30" "5" "7867480" "7867482" "del" "0" "01804" "C5orf49_000004" "g.7867480_7867482del" "" "" "" "FASTKD3(NM_024091.3):c.717_719del (p.(Ile240del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7867367_7867369del" "" "likely benign" "" "0000526090" "0" "50" "5" "7867658" "7867658" "subst" "1.21903E-5" "01804" "C5orf49_000005" "g.7867658G>A" "" "" "" "FASTKD3(NM_024091.3):c.539C>T (p.(Thr180Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7867545G>A" "" "VUS" "" "0000526094" "0" "30" "5" "7868332" "7868336" "del" "0" "01804" "C5orf49_000009" "g.7868332_7868336del" "" "" "" "FASTKD3(NM_024091.3):c.-113-9_-113-5del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7868219_7868223del" "" "likely benign" "" "0000526095" "0" "30" "5" "7868332" "7868336" "dup" "0" "01804" "C5orf49_000010" "g.7868332_7868336dup" "" "" "" "FASTKD3(NM_024091.3):c.-113-8_-113-7insTTTTT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7868219_7868223dup" "" "likely benign" "" "0000526096" "0" "30" "5" "7868333" "7868336" "del" "0" "01804" "C5orf49_000011" "g.7868333_7868336del" "" "" "" "FASTKD3(NM_024091.3):c.-113-8_-113-5del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7868220_7868223del" "" "likely benign" "" "0000526097" "0" "30" "5" "7868333" "7868336" "dup" "0" "01804" "C5orf49_000012" "g.7868333_7868336dup" "" "" "" "FASTKD3(NM_024091.3):c.-113-5_-113-4insTTTT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7868220_7868223dup" "" "likely benign" "" "0000526098" "0" "30" "5" "7868334" "7868336" "del" "0" "01804" "C5orf49_000013" "g.7868334_7868336del" "" "" "" "FASTKD3(NM_024091.3):c.-113-7_-113-5del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7868221_7868223del" "" "likely benign" "" "0000526099" "0" "30" "5" "7868336" "7868336" "dup" "0" "01804" "C5orf49_000014" "g.7868336dup" "" "" "" "FASTKD3(NM_024091.3):c.-113-8dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7868223dup" "" "likely benign" "" "0000526100" "0" "30" "5" "7873533" "7873533" "subst" "0.00149431" "02330" "MTRR_000045" "g.7873533C>G" "" "" "" "MTRR(NM_002454.3):c.177C>G (p.T59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7873420C>G" "" "likely benign" "" "0000526101" "0" "10" "5" "7875375" "7875375" "subst" "0.00115366" "02330" "MTRR_000046" "g.7875375C>T" "" "" "" "MTRR(NM_002454.3):c.288C>T (p.L96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7875262C>T" "" "benign" "" "0000526102" "0" "50" "5" "7883356" "7883356" "subst" "0.000950377" "01943" "MTRR_000047" "g.7883356T>C" "" "" "" "MTRR(NM_002454.2):c.869T>C (p.I290T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7883243T>C" "" "VUS" "" "0000526103" "0" "30" "5" "7885794" "7885795" "ins" "0.127125" "02330" "MTRR_000048" "g.7885794_7885795insTC" "" "" "" "MTRR(NM_002454.3):c.904-20_904-19insTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7885681_7885682insTC" "" "likely benign" "" "0000526104" "0" "30" "5" "7885795" "7885795" "dup" "0.00519261" "02330" "MTRR_000049" "g.7885795dup" "" "" "" "MTRR(NM_002454.3):c.904-19dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7885682dup" "" "likely benign" "" "0000526105" "0" "30" "5" "7885808" "7885808" "subst" "0" "01804" "MTRR_000050" "g.7885808C>T" "" "" "" "MTRR(NM_002454.2):c.904-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7885695C>T" "" "likely benign" "" "0000526106" "0" "50" "5" "7886819" "7886819" "subst" "0" "01943" "MTRR_000052" "g.7886819A>T" "" "" "" "MTRR(NM_002454.2):c.1146+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7886706A>T" "" "VUS" "" "0000526108" "0" "10" "5" "7891506" "7891506" "subst" "0.0585942" "02330" "MTRR_000054" "g.7891506C>G" "" "" "" "MTRR(NM_002454.3):c.1349C>G (p.P450R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7891393C>G" "" "benign" "" "0000526109" "0" "10" "5" "7891546" "7891546" "subst" "0.015321" "02330" "MTRR_000055" "g.7891546G>A" "" "" "" "MTRR(NM_002454.3):c.1370+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7891433G>A" "" "benign" "" "0000526110" "0" "10" "5" "7892933" "7892933" "subst" "0.0152818" "02330" "MTRR_000056" "g.7892933A>G" "" "" "" "MTRR(NM_002454.3):c.1464A>G (p.V488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7892820A>G" "" "benign" "" "0000526111" "0" "30" "5" "7892937" "7892937" "subst" "0.00452408" "01804" "MTRR_000027" "g.7892937A>G" "" "" "" "MTRR(NM_002454.2):c.1468A>G (p.(Thr490Ala)), MTRR(NM_002454.3):c.1468A>G (p.T490A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7892824A>G" "" "likely benign" "" "0000526112" "0" "10" "5" "7893005" "7893005" "subst" "0.0156024" "02330" "MTRR_000057" "g.7893005C>T" "" "" "" "MTRR(NM_002454.3):c.1536C>T (p.S512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7892892C>T" "" "benign" "" "0000526113" "0" "30" "5" "7893013" "7893013" "subst" "0.000386424" "01804" "MTRR_000058" "g.7893013C>T" "" "" "" "MTRR(NM_002454.2):c.1544C>T (p.(Ala515Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7892900C>T" "" "likely benign" "" "0000526114" "0" "10" "5" "7895985" "7895985" "subst" "0.0432942" "02330" "MTRR_000059" "g.7895985A>G" "" "" "" "MTRR(NM_002454.3):c.1676+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7895872A>G" "" "benign" "" "0000526115" "0" "10" "5" "7896968" "7896968" "dup" "0" "02330" "MTRR_000060" "g.7896968dup" "" "" "" "MTRR(NM_002454.3):c.1677-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7896855dup" "" "benign" "" "0000526116" "0" "30" "5" "7896969" "7896969" "subst" "5.29395E-5" "01804" "MTRR_000061" "g.7896969C>T" "" "" "" "MTRR(NM_002454.2):c.1677-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7896856C>T" "" "likely benign" "" "0000526117" "0" "30" "5" "7896969" "7896972" "del" "4.0776E-6" "01804" "MTRR_000062" "g.7896969_7896972del" "" "" "" "MTRR(NM_002454.2):c.1677-8_1677-5del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7896856_7896859del" "" "likely benign" "" "0000526118" "0" "30" "5" "7896974" "7896975" "ins" "0" "01804" "MTRR_000063" "g.7896974_7896975insTTTT" "" "" "" "MTRR(NM_002454.2):c.1677-5_1677-4insTTTT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7896861_7896862insTTTT" "" "likely benign" "" "0000526119" "0" "50" "5" "7897036" "7897036" "subst" "0" "02327" "MTRR_000064" "g.7897036G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7896923G>A" "" "VUS" "" "0000526120" "0" "10" "5" "7897061" "7897061" "subst" "0.0152701" "02330" "MTRR_000065" "g.7897061T>C" "" "" "" "MTRR(NM_002454.3):c.1761T>C (p.Y587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7896948T>C" "" "benign" "" "0000526121" "0" "10" "5" "7897217" "7897217" "subst" "4.06587E-6" "02330" "MTRR_000066" "g.7897217T>A" "" "" "" "MTRR(NM_002454.3):c.1809T>A (p.T603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7897104T>A" "" "benign" "" "0000651771" "1" "50" "5" "7878101" "7878101" "subst" "0.000174868" "03575" "MTRR_000028" "g.7878101C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs142714881}" "Germline" "" "rs142714881" "0" "" "" "g.7877988C>T" "" "VUS" "" "0000651772" "1" "10" "5" "7892937" "7892937" "subst" "0.00452408" "03575" "MTRR_000027" "g.7892937A>G" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs41283145}" "Germline" "" "rs41283145" "0" "" "" "g.7892824A>G" "" "benign" "" "0000651773" "1" "50" "5" "7897061" "7897061" "subst" "0.0152701" "03575" "MTRR_000065" "g.7897061T>C" "17/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 17 heterozygous, no homozygous; {DB:CLININrs6874544}" "Germline" "" "rs6874544" "0" "" "" "g.7896948T>C" "" "VUS" "" "0000651774" "1" "30" "5" "7897227" "7897227" "subst" "0.00075213" "03575" "MTRR_000029" "g.7897227G>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs114259126}" "Germline" "" "rs114259126" "0" "" "" "g.7897114G>A" "" "likely benign" "" "0000802184" "0" "90" "5" "7883266" "7883266" "subst" "4.06147E-6" "01943" "MTRR_000067" "g.7883266A>T" "" "" "" "MTRR(NM_001364440.1):c.781-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860007" "0" "30" "5" "7873564" "7873564" "subst" "6.90316E-5" "01943" "MTRR_000068" "g.7873564C>T" "" "" "" "MTRR(NM_024010.3):c.208C>T (p.R70C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886912" "0" "30" "5" "7875375" "7875375" "subst" "0.00115366" "02326" "MTRR_000046" "g.7875375C>T" "" "" "" "MTRR(NM_002454.3):c.288C>T (p.L96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886913" "0" "90" "5" "7883859" "7883859" "subst" "0" "02326" "MTRR_000069" "g.7883859T>C" "" "" "" "MTRR(NM_002454.3):c.903+469T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886914" "0" "30" "5" "7886761" "7886763" "del" "0" "02326" "MTRR_000070" "g.7886761_7886763del" "" "" "" "MTRR(NM_002454.3):c.1091_1093delGTT (p.C364del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886915" "0" "30" "5" "7889387" "7889387" "subst" "0.0034047" "02326" "MTRR_000026" "g.7889387C>T" "" "" "" "MTRR(NM_002454.3):c.1326C>T (p.L442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912364" "0" "70" "5" "7875421" "7875421" "subst" "0" "02329" "MTRR_000071" "g.7875421G>A" "" "" "" "MTRR(NM_001364440.2):c.334G>A (p.D112N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924379" "0" "30" "5" "7878399" "7878399" "subst" "4.06098E-5" "02326" "MTRR_000072" "g.7878399A>G" "" "" "" "MTRR(NM_002454.3):c.744A>G (p.E248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929101" "0" "30" "5" "7889194" "7889194" "subst" "0.000832914" "02326" "MTRR_000073" "g.7889194G>A" "" "" "" "MTRR(NM_002454.3):c.1147-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963687" "0" "30" "5" "7873533" "7873533" "subst" "0.00149431" "02326" "MTRR_000045" "g.7873533C>G" "" "" "" "MTRR(NM_002454.3):c.177C>G (p.T59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976857" "0" "30" "5" "7862987" "7862987" "subst" "0.00134469" "01804" "C5orf49_000044" "g.7862987C>T" "" "" "" "FASTKD3(NM_024091.4):c.1648G>A (p.(Ala550Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976858" "0" "50" "5" "7866968" "7866968" "subst" "3.65764E-5" "01804" "C5orf49_000045" "g.7866968G>C" "" "" "" "FASTKD3(NM_024091.4):c.1229C>G (p.(Ala410Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001010082" "0" "90" "5" "7883859" "7883859" "subst" "0" "00006" "MTRR_000069" "g.7883859T>C" "" "{PMID:Homolova 2010:20120036}" "" "" "expression cloning beta globin mini-gene splicing construct; variant suggested to create a new exonic splicing enhancer (ESE)" "In vitro (cloned)" "" "" "0" "" "" "g.7883746T>C" "" "NA" "" "0001010083" "1" "90" "5" "7873521" "7873523" "del" "0" "00006" "MTRR_000037" "g.7873521_7873523del" "" "{PMID:Wilson 1999:10484769}" "" "V54del (160delGTT)" "" "Germline" "" "" "0" "" "" "g.7873408_7873410del" "" "pathogenic (recessive)" "" "0001010084" "1" "90" "5" "7892928" "7892928" "subst" "0" "00006" "MTRR_000038" "g.7892928G>A" "" "{PMID:Wilson 1999:10484769}" "" "" "" "Germline" "" "" "0" "" "" "g.7892815G>A" "" "pathogenic (recessive)" "" "0001010085" "1" "90" "5" "7893023" "7893029" "del" "1.22483E-5" "00006" "MTRR_000034" "g.7893023_7893029del" "" "{PMID:Wilson 1999:10484769}" "" "1554del7" "" "Germline" "" "" "0" "" "" "g.7892910_7892916del" "" "pathogenic (recessive)" "" "0001010086" "1" "90" "5" "7875427" "7875427" "subst" "1.62459E-5" "00006" "MTRR_000039" "g.7875427C>T" "" "{PMID:Wilson 1999:10484769}" "" "" "" "Germline" "" "" "0" "" "" "g.7875314C>T" "" "pathogenic (recessive)" "" "0001010087" "1" "90" "5" "7873522" "7873522" "subst" "8.12143E-6" "00006" "MTRR_000030" "g.7873522G>A" "" "{PMID:Wilson 1999:10484769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7873409G>A" "" "pathogenic (recessive)" "" "0001010088" "1" "90" "5" "7873522" "7873522" "subst" "8.12143E-6" "00006" "MTRR_000030" "g.7873522G>A" "" "{PMID:Wilson 1999:10484769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7873409G>A" "" "pathogenic (recessive)" "" "0001010089" "1" "90" "5" "7885907" "7885907" "subst" "0.0102101" "00006" "MTRR_000007" "g.7885907C>G" "" "{PMID:Wilson 1999:10484769}" "" "" "" "Germline" "" "" "0" "" "" "g.7885794C>G" "" "pathogenic (recessive)" "" "0001010090" "1" "90" "5" "7889274" "7889274" "subst" "0" "00006" "MTRR_000036" "g.7889274T>C" "" "{PMID:Wilson 1999:10484769}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.7889161T>C" "" "pathogenic (recessive)" "" "0001010091" "2" "90" "5" "7896978" "7896981" "del" "0" "00006" "MTRR_000031" "g.7896978_7896981del" "" "{PMID:Leclerc 1998:9501215}" "" "1675del4" "" "Germline" "yes" "" "0" "" "" "g.7896865_7896868del" "" "pathogenic (recessive)" "" "0001010092" "2" "90" "5" "7896978" "7896981" "del" "0" "00006" "MTRR_000031" "g.7896978_7896981del" "" "{PMID:Leclerc 1998:9501215}" "" "1675del4" "" "Germline" "yes" "" "0" "" "" "g.7896865_7896868del" "" "pathogenic (recessive)" "" "0001010093" "2" "90" "5" "7875472" "7875472" "subst" "0" "00006" "MTRR_000032" "g.7875472G>A" "" "{PMID:Wilson 1999:10484769}" "" "" "" "Germline" "" "" "0" "" "" "g.7875359G>A" "" "pathogenic (recessive)" "" "0001010094" "2" "90" "5" "7895949" "7895949" "subst" "0" "00006" "MTRR_000033" "g.7895949G>A" "" "{PMID:Wilson 1999:10484769}" "" "" "" "Germline" "" "" "0" "" "" "g.7895836G>A" "" "pathogenic (recessive)" "" "0001010095" "0" "30" "5" "7895942" "7895942" "subst" "0.00810271" "00006" "MTRR_000011" "g.7895942G>A" "1/100 control chromosomes" "{PMID:Wilson 1999:10484769}" "" "" "" "Germline" "" "" "0" "" "" "g.7895829G>A" "" "likely benign" "" "0001010096" "2" "90" "5" "7883859" "7883859" "subst" "0" "00006" "MTRR_000069" "g.7883859T>C" "" "{PMID:Wilson 1999:10484769}" "" "" "" "Germline" "" "" "0" "" "" "g.7883746T>C" "" "pathogenic (recessive)" "" "0001010099" "2" "90" "5" "7883859" "7883859" "subst" "0" "00006" "MTRR_000069" "g.7883859T>C" "" "{PMID:Wilson 1999:10484769}" "" "" "" "Germline" "" "" "0" "" "" "g.7883746T>C" "" "pathogenic (recessive)" "" "0001010100" "2" "90" "5" "7870924" "7870929" "del" "0" "00006" "MTRR_000035" "g.7870924_7870929del" "" "{PMID:Wilson 1999:10484769}" "" "16del6" "" "Germline" "" "" "0" "" "" "g.7870811_7870816del" "" "pathogenic (recessive)" "" "0001010103" "3" "90" "5" "7870914" "7870914" "subst" "0" "00006" "MTRR_000040" "g.7870914A>T" "" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Germline" "" "" "0" "" "" "g.7870801A>T" "" "pathogenic (recessive)" "" "0001010104" "3" "90" "5" "7883859" "7883859" "subst" "0" "00006" "MTRR_000069" "g.7883859T>C" "" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Germline" "" "" "0" "" "" "g.7883746T>C" "" "pathogenic (recessive)" "" "0001010105" "3" "90" "5" "7883859" "7883859" "subst" "0" "00006" "MTRR_000069" "g.7883859T>C" "" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Germline" "" "" "0" "" "" "g.7883746T>C" "" "pathogenic (recessive)" "" "0001010106" "3" "90" "5" "7891518" "7891518" "subst" "0" "00006" "MTRR_000041" "g.7891518C>T" "" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Germline" "" "" "0" "" "" "g.7891405C>T" "" "pathogenic (recessive)" "" "0001010107" "3" "90" "5" "7891518" "7891518" "subst" "0" "00006" "MTRR_000041" "g.7891518C>T" "" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Germline" "" "" "0" "" "" "g.7891405C>T" "" "pathogenic (recessive)" "" "0001010108" "21" "90" "5" "7891518" "7891518" "subst" "0" "00006" "MTRR_000041" "g.7891518C>T" "" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Germline" "" "" "0" "" "" "g.7891405C>T" "" "pathogenic (recessive)" "" "0001010109" "11" "90" "5" "7892928" "7892928" "subst" "0" "00006" "MTRR_000038" "g.7892928G>A" "" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Germline" "" "" "0" "" "" "g.7892815G>A" "" "pathogenic (recessive)" "" "0001010110" "11" "90" "5" "7883859" "7883859" "subst" "0" "00006" "MTRR_000069" "g.7883859T>C" "" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Germline" "" "" "0" "" "" "g.7883746T>C" "" "pathogenic (recessive)" "" "0001010111" "11" "90" "5" "7883859" "7883859" "subst" "0" "00006" "MTRR_000069" "g.7883859T>C" "" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Germline" "" "" "0" "" "" "g.7883746T>C" "" "pathogenic (recessive)" "" "0001010112" "11" "90" "5" "7895862" "7895862" "subst" "1.62481E-5" "00006" "MTRR_000042" "g.7895862C>T" "" "{PMID:Zavadakova 2005:15714522}" "" "" "" "Germline" "" "" "0" "" "" "g.7895749C>T" "" "pathogenic (recessive)" "" "0001010113" "21" "90" "5" "7895911" "7895912" "dup" "0" "00006" "MTRR_000043" "g.7895911_7895912dup" "" "{PMID:Zavadakova 2005:15714522}" "" "" "1622_1623dupTA" "Germline" "" "" "0" "" "" "g.7895798_7895799dup" "" "pathogenic (recessive)" "" "0001010114" "21" "90" "5" "7893023" "7893029" "del" "1.22483E-5" "00006" "MTRR_000034" "g.7893023_7893029del" "" "{PMID:Zavadakova 2005:15714522}" "" "" "1557-4_1557+3del7" "Germline" "" "" "0" "" "" "g.7892910_7892916del" "" "pathogenic (recessive)" "" "0001010115" "21" "90" "5" "7900021" "7900025" "del" "5.69101E-5" "00006" "MTRR_000044" "g.7900021_7900025del" "" "{PMID:Zavadakova 2005:15714522}" "" "" "1952-6_-2del5" "Germline" "" "" "0" "" "" "g.7899908_7899912del" "" "pathogenic (recessive)" "" "0001035322" "0" "50" "5" "7873631" "7873631" "subst" "0" "01804" "C5orf49_000046" "g.7873631G>A" "" "" "" "MTRR(NM_002454.3):c.275G>A (p.(Gly92Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035323" "0" "50" "5" "7878347" "7878347" "subst" "0" "01804" "C5orf49_000047" "g.7878347C>G" "" "" "" "MTRR(NM_002454.3):c.692C>G (p.(Ser231Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051910" "0" "50" "5" "7875364" "7875364" "subst" "0" "01804" "C5orf49_000048" "g.7875364T>A" "" "" "" "MTRR(NM_002454.3):c.284-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051911" "0" "50" "5" "7897027" "7897027" "subst" "1.62681E-5" "01804" "C5orf49_000049" "g.7897027T>G" "" "" "" "MTRR(NM_002454.3):c.1727T>G (p.(Leu576Trp))" "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 MTRR ## Count = 113 "{{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}}" "0000246323" "00014058" "10" "66" "0" "66" "0" "c.66A>G" "r.(?)" "p.(Ile22Met)" "" "0000246350" "00014058" "10" "1049" "0" "1049" "0" "c.1049A>G" "r.(?)" "p.(Lys350Arg)" "" "0000246377" "00014058" "30" "1982" "0" "1982" "0" "c.1982A>G" "r.(?)" "p.(His661Arg)" "" "0000246383" "00014058" "30" "1468" "0" "1468" "0" "c.1468A>G" "r.(?)" "p.(Thr490Ala)" "" "0000248397" "00014058" "10" "66" "0" "66" "0" "c.66A>G" "r.(?)" "p.(Ile22Met)" "" "0000280087" "00014058" "10" "-119" "0" "-119" "0" "c.-119T>C" "r.(?)" "p.(=)" "" "0000280088" "00014058" "10" "1155" "0" "1155" "0" "c.1155G>A" "r.(?)" "p.(Leu385=)" "" "0000280089" "00014058" "10" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Cys)" "" "0000280090" "00014058" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Leu442=)" "" "0000280091" "00014058" "50" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Val54Ile)" "" "0000280092" "00014058" "10" "1653" "0" "1653" "0" "c.1653G>A" "r.(?)" "p.(Pro551=)" "" "0000280093" "00014058" "10" "1677" "-9" "1677" "-9" "c.1677-9del" "r.(=)" "p.(=)" "" "0000280095" "00014058" "10" "1783" "0" "1783" "0" "c.1783C>T" "r.(?)" "p.(His595Tyr)" "" "0000280096" "00014058" "10" "1875" "0" "1875" "0" "c.1875G>A" "r.(?)" "p.(Val625=)" "" "0000280097" "00014058" "10" "1911" "0" "1911" "0" "c.1911G>A" "r.(?)" "p.(Ala637=)" "" "0000280098" "00014058" "10" "210" "0" "210" "0" "c.210C>G" "r.(?)" "p.(Arg70=)" "" "0000280099" "00014058" "10" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Ser175Leu)" "" "0000280100" "00014058" "10" "537" "0" "537" "0" "c.537T>C" "r.(?)" "p.(Leu179=)" "" "0000280101" "00014058" "10" "769" "0" "769" "0" "c.769T>A" "r.(?)" "p.(Ser257Thr)" "" "0000280104" "00014058" "10" "997" "0" "997" "0" "c.997C>G" "r.(?)" "p.(Leu333Val)" "" "0000282676" "00014058" "10" "1911" "0" "1911" "0" "c.1911G>A" "r.(?)" "p.(Ala637=)" "" "0000282677" "00014058" "10" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Ser175Leu)" "" "0000282678" "00014058" "10" "904" "-20" "904" "-20" "c.904-20dup" "r.(=)" "p.(=)" "" "0000282679" "00014058" "30" "904" "-21" "904" "-20" "c.904-21_904-20dup" "r.(=)" "p.(=)" "" "0000286701" "00014058" "10" "997" "0" "997" "0" "c.997C>G" "r.(?)" "p.(Leu333Val)" "" "0000292139" "00014058" "30" "210" "0" "210" "0" "c.210C>G" "r.(?)" "p.(Arg70=)" "" "0000292140" "00014058" "30" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Val169Met)" "" "0000330251" "00014058" "50" "-2448" "0" "-2448" "0" "c.-2448T>G" "r.(?)" "p.(=)" "" "0000330253" "00014058" "50" "-1435" "0" "-1435" "0" "c.-1435T>C" "r.(?)" "p.(=)" "" "0000330254" "00014058" "50" "-1311" "0" "-1311" "0" "c.-1311G>C" "r.(?)" "p.(=)" "" "0000330257" "00014058" "30" "904" "-4" "904" "-4" "c.904-4C>T" "r.spl?" "p.?" "" "0000330258" "00014058" "50" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Arg525Gln)" "" "0000526087" "00014058" "30" "-2532" "0" "-2532" "0" "c.-2532C>G" "r.(?)" "p.(=)" "" "0000526088" "00014058" "50" "-1945" "0" "-1945" "0" "c.-1945A>C" "r.(?)" "p.(=)" "" "0000526089" "00014058" "30" "-1874" "0" "-1872" "0" "c.-1874_-1872del" "r.(?)" "p.(=)" "" "0000526090" "00014058" "50" "-1696" "0" "-1696" "0" "c.-1696G>A" "r.(?)" "p.(=)" "" "0000526094" "00014058" "30" "-1022" "0" "-1018" "0" "c.-1022_-1018del" "r.(?)" "p.(=)" "" "0000526095" "00014058" "30" "-1022" "0" "-1018" "0" "c.-1022_-1018dup" "r.(?)" "p.(=)" "" "0000526096" "00014058" "30" "-1021" "0" "-1018" "0" "c.-1021_-1018del" "r.(?)" "p.(=)" "" "0000526097" "00014058" "30" "-1021" "0" "-1018" "0" "c.-1021_-1018dup" "r.(?)" "p.(=)" "" "0000526098" "00014058" "30" "-1020" "0" "-1018" "0" "c.-1020_-1018del" "r.(?)" "p.(=)" "" "0000526099" "00014058" "30" "-1018" "0" "-1018" "0" "c.-1018dup" "r.(?)" "p.(=)" "" "0000526100" "00014058" "30" "177" "0" "177" "0" "c.177C>G" "r.(?)" "p.(Thr59=)" "" "0000526101" "00014058" "10" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(Leu96=)" "" "0000526102" "00014058" "50" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Ile290Thr)" "" "0000526103" "00014058" "30" "904" "-20" "904" "-19" "c.904-20_904-19insTC" "r.(=)" "p.(=)" "" "0000526104" "00014058" "30" "904" "-19" "904" "-19" "c.904-19dup" "r.(=)" "p.(=)" "" "0000526105" "00014058" "30" "904" "-6" "904" "-6" "c.904-6C>T" "r.(=)" "p.(=)" "" "0000526106" "00014058" "50" "1146" "3" "1146" "3" "c.1146+3A>T" "r.spl?" "p.?" "" "0000526108" "00014058" "10" "1349" "0" "1349" "0" "c.1349C>G" "r.(?)" "p.(Pro450Arg)" "" "0000526109" "00014058" "10" "1370" "19" "1370" "19" "c.1370+19G>A" "r.(=)" "p.(=)" "" "0000526110" "00014058" "10" "1464" "0" "1464" "0" "c.1464A>G" "r.(?)" "p.(Val488=)" "" "0000526111" "00014058" "30" "1468" "0" "1468" "0" "c.1468A>G" "r.(?)" "p.(Thr490Ala)" "" "0000526112" "00014058" "10" "1536" "0" "1536" "0" "c.1536C>T" "r.(?)" "p.(Ser512=)" "" "0000526113" "00014058" "30" "1544" "0" "1544" "0" "c.1544C>T" "r.(?)" "p.(Ala515Val)" "" "0000526114" "00014058" "10" "1676" "20" "1676" "20" "c.1676+20A>G" "r.(=)" "p.(=)" "" "0000526115" "00014058" "10" "1677" "-9" "1677" "-9" "c.1677-9dup" "r.(=)" "p.(=)" "" "0000526116" "00014058" "30" "1677" "-8" "1677" "-8" "c.1677-8C>T" "r.(=)" "p.(=)" "" "0000526117" "00014058" "30" "1677" "-8" "1677" "-5" "c.1677-8_1677-5del" "r.spl?" "p.?" "" "0000526118" "00014058" "30" "1677" "-3" "1677" "-2" "c.1677-3_1677-2insTTTT" "r.spl?" "p.?" "" "0000526119" "00014058" "50" "1736" "0" "1736" "0" "c.1736G>A" "r.(?)" "p.(Gly579Asp)" "" "0000526120" "00014058" "10" "1761" "0" "1761" "0" "c.1761T>C" "r.(?)" "p.(Tyr587=)" "" "0000526121" "00014058" "10" "1809" "0" "1809" "0" "c.1809T>A" "r.(?)" "p.(Thr603=)" "" "0000651771" "00014058" "50" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Ala149Val)" "" "0000651772" "00014058" "10" "1468" "0" "1468" "0" "c.1468A>G" "r.(?)" "p.(Thr490Ala)" "" "0000651773" "00014058" "50" "1761" "0" "1761" "0" "c.1761T>C" "r.(=)" "p.(=)" "" "0000651774" "00014058" "30" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Val607Ile)" "" "0000802184" "00014058" "90" "781" "-2" "781" "-2" "c.781-2A>T" "r.spl?" "p.?" "" "0000860007" "00014058" "30" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Cys)" "" "0000886912" "00014058" "30" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(Leu96=)" "" "0000886913" "00014058" "90" "903" "469" "903" "469" "c.903+469T>C" "r.(=)" "p.(=)" "" "0000886914" "00014058" "30" "1091" "0" "1093" "0" "c.1091_1093del" "r.(?)" "p.(Cys364del)" "" "0000886915" "00014058" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Leu442=)" "" "0000912364" "00014058" "70" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Asp112Asn)" "" "0000924379" "00014058" "30" "744" "0" "744" "0" "c.744A>G" "r.(?)" "p.(Glu248=)" "" "0000929101" "00014058" "30" "1147" "-14" "1147" "-14" "c.1147-14G>A" "r.(=)" "p.(=)" "" "0000963687" "00014058" "30" "177" "0" "177" "0" "c.177C>G" "r.(?)" "p.(Thr59=)" "" "0000976857" "00014058" "30" "-6367" "0" "-6367" "0" "c.-6367C>T" "r.(?)" "p.(=)" "" "0000976858" "00014058" "50" "-2386" "0" "-2386" "0" "c.-2386G>C" "r.(?)" "p.(=)" "" "0001010082" "00014058" "90" "903" "469" "903" "469" "c.903+469T>C" "r.903_904ins[903+447_903+468;c;903+470_903+586]" "p.Asn302GlyfsTer61" "6i" "0001010083" "00014058" "90" "165" "0" "167" "0" "c.165_167del" "r.165_167del" "p.Val57del" "" "0001010084" "00014058" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.1459g>a" "p.Gly487Arg" "" "0001010085" "00014058" "90" "1554" "0" "1557" "3" "c.1554_1557+3del" "r.1462_1557del" "p.Val488_Lys519del" "" "0001010086" "00014058" "90" "340" "0" "340" "0" "c.340C>T" "r.340c>u" "p.(Arg114Ter)" "" "0001010087" "00014058" "90" "166" "0" "166" "0" "c.166G>A" "r.166g>a" "p.Val56Met" "" "0001010088" "00014058" "90" "166" "0" "166" "0" "c.166G>A" "r.166g>a" "p.Val56Met" "" "0001010089" "00014058" "90" "997" "0" "997" "0" "c.997C>G" "r.997c>g" "p.Leu333Val" "" "0001010090" "00014058" "90" "1213" "0" "1213" "0" "c.1213T>C" "r.1213u>c" "p.Cys405Arg" "" "0001010091" "00014058" "90" "1678" "0" "1681" "0" "c.1678_1681del" "r.1678_1681del" "p.Glu560Asnfs*42" "" "0001010092" "00014058" "90" "1678" "0" "1681" "0" "c.1678_1681del" "r.1678_1681del" "p.Glu560Asnfs*42" "" "0001010093" "00014058" "90" "385" "0" "385" "0" "c.385G>A" "r.385g>a" "p.Ala129Thr" "" "0001010094" "00014058" "90" "1660" "0" "1660" "0" "c.1660G>A" "r.1660g>a" "p.Gly554Arg" "" "0001010095" "00014058" "30" "1653" "0" "1653" "0" "c.1653G>A" "r.(=)" "p.(Pro551=)" "" "0001010096" "00014058" "90" "903" "469" "903" "469" "c.903+469T>C" "r.903_904ins[903+447_903+468;c;903+470_903+586]" "p.Asn302GlyfsTer61" "" "0001010099" "00014058" "90" "903" "469" "903" "469" "c.903+469T>C" "r.903_904ins[903+447_903+468;c;903+470_903+586]" "p.Asn302GlyfsTer61" "" "0001010100" "00014058" "90" "17" "0" "22" "0" "c.17_22del" "r.(?)" "p.(Leu6_Leu7del)" "" "0001010103" "00014058" "90" "7" "0" "7" "0" "c.7A>T" "r.7a>u" "p.Arg3Trp" "" "0001010104" "00014058" "90" "903" "469" "903" "469" "c.903+469T>C" "r.903_904ins[903+447_903+468;c;903+470_903+586]" "p.Asn302GlyfsTer61" "" "0001010105" "00014058" "90" "903" "469" "903" "469" "c.903+469T>C" "r.903_904ins[903+447_903+468;c;903+470_903+586]" "p.Asn302GlyfsTer61" "" "0001010106" "00014058" "90" "1361" "0" "1361" "0" "c.1361C>T" "c,1361c>u" "p.Ser454Leu" "" "0001010107" "00014058" "90" "1361" "0" "1361" "0" "c.1361C>T" "c,1361c>u" "p.Ser454Leu" "" "0001010108" "00014058" "90" "1361" "0" "1361" "0" "c.1361C>T" "c,1361c>u" "p.Ser454Leu" "" "0001010109" "00014058" "90" "1459" "0" "1459" "0" "c.1459G>A" "c.1459g>a" "p.Gly487Arg" "" "0001010110" "00014058" "90" "903" "469" "903" "469" "c.903+469T>C" "r.903_904ins[903+447_903+468;c;903+470_903+586]" "p.Asn302GlyfsTer61" "" "0001010111" "00014058" "90" "903" "469" "903" "469" "c.903+469T>C" "r.903_904ins[903+447_903+468;c;903+470_903+586]" "p.Asn302GlyfsTer61" "" "0001010112" "00014058" "90" "1573" "0" "1573" "0" "c.1573C>T" "c.1573c>u" "p.Arg525Ter" "" "0001010113" "00014058" "90" "1622" "0" "1623" "0" "c.1622_1623dup" "c.1622_1623dup" "p.Met542Ter" "" "0001010114" "00014058" "90" "1554" "0" "1557" "3" "c.1554_1557+3del" "r.1462_1557del" "p.Val488_Lys519del" "" "0001010115" "00014058" "90" "1953" "-6" "1953" "-2" "c.1953-6_1953-2del" "r.0?" "p.0?" "" "0001035322" "00014058" "50" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Gly92Glu)" "" "0001035323" "00014058" "50" "692" "0" "692" "0" "c.692C>G" "r.(?)" "p.(Ser231Trp)" "" "0001051910" "00014058" "50" "284" "-7" "284" "-7" "c.284-7T>A" "r.(=)" "p.(=)" "" "0001051911" "00014058" "50" "1727" "0" "1727" "0" "c.1727T>G" "r.(?)" "p.(Leu576Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000295082" "0000651771" "0000295083" "0000651772" "0000295084" "0000651773" "0000295085" "0000651774" "0000456411" "0001010083" "0000456411" "0001010093" "0000456412" "0001010084" "0000456412" "0001010094" "0000456413" "0001010085" "0000456413" "0001010096" "0000456414" "0001010086" "0000456414" "0001010099" "0000456415" "0001010087" "0000456415" "0001010092" "0000456416" "0001010088" "0000456416" "0001010091" "0000456417" "0001010089" "0000456417" "0001010100" "0000456418" "0001010090" "0000456420" "0001010095" "0000456424" "0001010103" "0000456425" "0001010104" "0000456426" "0001010105" "0000456427" "0001010106" "0000456428" "0001010107" "0000456429" "0001010108" "0000456429" "0001010112" "0000456430" "0001010109" "0000456430" "0001010113" "0000456431" "0001010110" "0000456431" "0001010114" "0000456432" "0001010111" "0000456432" "0001010115"