### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MRPL49) # 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}}" "MRPL49" "mitochondrial ribosomal protein L49" "11" "q13.1" "unknown" "NC_000011.9" "UD_136089293469" "" "http://www.LOVD.nl/MRPL49" "" "1" "1176" "740" "606866" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-04-08 16:27:16" "00006" "2025-04-08 20:03:19" ## 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}}" "00013885" "MRPL49" "transcript variant 1" "002" "NM_004927.3" "" "NP_004918.1" "" "" "" "-103" "1998" "501" "64889716" "64894841" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00401294" "" "" "" "1" "" "00006" "{PMID:Shao 2016:27129271}, {PMID:Thomas 2025:40043708}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "FamPatIII5" "00464674" "" "" "" "2" "" "00006" "{PMID:Thomas 2025:40043708}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam1PatII1" "00464675" "" "" "00464674" "1" "" "00006" "{PMID:Thomas 2025:40043708}" "sister" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam1PatII2" "00464676" "" "" "" "3" "" "00006" "{PMID:Thomas 2025:40043708}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2PatII2" "00464677" "" "" "00464676" "1" "" "00006" "{PMID:Thomas 2025:40043708}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam2PatII3" "00464678" "" "" "00464676" "1" "" "00006" "{PMID:Thomas 2025:40043708}" "sister (deceased)" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam2PatII6" "00464679" "" "" "" "1" "" "00006" "{PMID:Thomas 2025:40043708}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "" "Fam3PatII1" "00464680" "" "" "" "2" "" "00006" "{PMID:Thomas 2025:40043708}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam4PatII1" "00464681" "" "" "00464680" "1" "" "00006" "{PMID:Thomas 2025:40043708}" "sister" "F" "yes" "Turkey" "" "0" "" "" "" "Fam4PatII2" "00464682" "" "" "" "1" "" "00006" "{PMID:Thomas 2025:40043708}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Turkey" "" "0" "" "" "" "Fam5PatII2" "00464683" "" "" "" "1" "" "00006" "{PMID:Thomas 2025:40043708}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "Fam6PatII1" "00464684" "" "" "" "1" "" "00006" "{PMID:Thomas 2025:40043708}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam7PatII1" "00464685" "" "" "" "1" "" "00006" "{PMID:Thomas 2025:40043708}" "2-generation family, 1 affected (deceased), unaffected heterozygous carrier parents" "F" "no" "Australia" "" "0" "" "" "" "Fam8PatII1" "00464686" "" "" "" "2" "" "00006" "{PMID:Thomas 2025:40043708}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam9PatII1" "00464687" "" "" "00464686" "1" "" "00006" "{PMID:Thomas 2025:40043708}" "brother" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam9PatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00401294" "00198" "00464674" "00198" "00464675" "00198" "00464676" "00198" "00464677" "00198" "00464678" "00198" "00464679" "00198" "00464680" "00198" "00464681" "00198" "00464682" "00198" "00464683" "00198" "00464684" "00198" "00464685" "00198" "00464686" "00198" "00464687" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 15 "{{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}}" "0000294313" "00198" "00401294" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., primary ovarian failure, intellectual disability, sensorineural hearing loss, kyphosis, significant speech delay" "00y15m" "" "sensorineural hearing loss" "" "" "" "" "" "" "multisystem dysfunction" "" "0000350659" "00198" "00464674" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., primary ovarian insufficiency, bilateral sensorineural hearing loss, microcephaly, mild learning disability" "" "" "" "" "" "" "" "" "" "Perrault syndrome" "" "0000350660" "00198" "00464675" "00006" "Familial, autosomal recessive" "" "see paper; ..., primary ovarian insufficiency, bilateral sensorineural hearing loss, microcephaly, mild learning disability" "" "" "" "" "" "" "" "" "" "Perrault syndrome" "" "0000350661" "00198" "00464676" "00006" "Familial, autosomal recessive" "" "see paper; ..., no bilateral sensorineural hearing loss, mild microcephaly, night blindness; intellectual disability, facial dysmorphism; bone abnormalities, borderline short stature (−1.8 SD), seizures" "" "" "" "" "" "" "" "" "" "" "" "0000350662" "00198" "00464677" "00006" "Familial, autosomal recessive" "" "see paper; ..., no primary ovarian insufficiency, normal menstrual cycle; no bilateral sensorineural hearing loss, mild microcephaly, intellectual disability, facial dysmorphism" "" "" "" "" "" "" "" "" "" "" "" "0000350663" "00198" "00464678" "00006" "Familial, autosomal recessive" "" "see paper; ..., no primary ovarian insufficiency, no bilateral sensorineural hearing loss, mild microcephaly, learning disability" "" "" "" "" "" "" "" "" "" "" "" "0000350664" "00198" "00464679" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., birth at term, weight 2.25 kg (−3.37 SD); bilateral sensorineural hearing loss, microcephaly, mild learning disability; delayed attainment milestones, 3y6m-stand with support; 5y-speech only monosyllable; episodes of fever associated with loss of consciousnes; 5y-weight 12.54 kg (−2.6 SD), height 103 cm with contractures (−1.6 SD), OFC 47 cm (−3.2 SD); small forehead, plagiocephaly, low anterior hairline, metopic prominence, strabismus, orofacial dystonia; hypertonia (lower limbs > upper limbs), tremors." "" "" "" "" "" "" "" "" "" "" "" "0000350665" "00198" "00464680" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral sensorineural hearing loss, no microcephaly, mild learning disability, no retinal dysfunction" "" "" "" "" "" "" "" "" "" "" "" "0000350666" "00198" "00464681" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral sensorineural hearing loss, no microcephaly, mild learning disability, no retinal dysfunction" "" "" "" "" "" "" "" "" "" "" "" "0000350667" "00198" "00464682" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., 2d-hypoglycemia; primary ovarian insufficiency, bilateral sensorineural hearing loss, mild learning disability, no retinal dysfunction; 6y6m-height 141cm (−2.15 SD); 12y- no menarche, hypergonadotrophic hypogonadism" "" "" "" "" "" "" "" "" "" "" "" "0000350668" "00198" "00464683" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., primary ovarian insufficiency, no bilateral sensorineural hearing loss, mild learning disability; primary amenorrhea; moderate intellectual disability; height 146 cm (−2.66 SD)" "" "" "" "" "" "" "" "" "" "" "" "0000350669" "00198" "00464684" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., bilateral sensorineural hearing loss, mild learning disability, no retinal dysfunction; moderate intellectual disability; episodes of lactic acidosi; height 169 cm (0.67 SD)" "" "" "" "" "" "" "" "" "" "" "" "0000350670" "00198" "00464685" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., primary ovarian insufficiency, no bilateral sensorineural hearing loss, no microcephaly; intellectual disability, epilepsy, retinitis pigmentosa, bilateral posterior subcapsular cataracts, obesity, hypothyroidism, menstrual cycle anomalies, psychosis with neurocognitive decline; refractory seizures; mood disturbance, hallucinations; dysphagia with aspiration pneumonia" "" "" "" "" "" "" "" "" "" "" "" "0000350671" "00198" "00464686" "00006" "Familial, autosomal recessive" "" "see paper; ..., profound bilateral sensorineural hearing loss, microcephaly, mild learning disability; developmental delay, ataxia" "" "" "" "" "" "" "" "" "" "" "" "0000350672" "00198" "00464687" "00006" "Familial, autosomal recessive" "" "see paper; ..., profound bilateral sensorineural hearing loss, microcephaly, mild learning disability; developmental delay, ataxia; 18m-sit, never crawled/walked; 6y-cognitive delay; speech 2 words; recurrent episodes of hypoglycemia" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000402538" "00401294" "1" "00006" "00006" "2022-01-31 09:26:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466321" "00464674" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466322" "00464675" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466323" "00464676" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466324" "00464677" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466325" "00464678" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466326" "00464679" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466327" "00464680" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466328" "00464681" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466329" "00464682" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466330" "00464683" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466331" "00464684" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466332" "00464685" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466333" "00464686" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466334" "00464687" "1" "00006" "00006" "2025-04-08 19:53:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 22 "{{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}}" "0000322304" "0" "50" "11" "64893274" "64893274" "subst" "0" "01804" "MRPL49_000001" "g.64893274C>G" "" "" "" "MRPL49(NM_004927.3):c.431C>G (p.(Thr144Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65125802C>G" "" "VUS" "" "0000322305" "0" "50" "11" "64895892" "64895892" "subst" "2.04454E-5" "01804" "SYVN1_000001" "g.64895892G>A" "" "" "" "SYVN1(NM_172230.2):c.1816C>T (p.(Arg606Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65128420G>A" "" "VUS" "" "0000322306" "0" "30" "11" "64898409" "64898409" "subst" "8.17621E-6" "01804" "SYVN1_000002" "g.64898409T>G" "" "" "" "SYVN1(NM_032431.2):c.923A>C (p.(Asn308Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65130938T>G" "" "likely benign" "" "0000322307" "0" "30" "11" "64898466" "64898466" "subst" "4.06646E-6" "01804" "SYVN1_000003" "g.64898466T>G" "" "" "" "SYVN1(NM_032431.2):c.866A>C (p.(Asn289Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65130995T>G" "" "likely benign" "" "0000322308" "0" "50" "11" "64900959" "64900959" "subst" "0" "01804" "SYVN1_000004" "g.64900959C>G" "" "" "" "SYVN1(NM_032431.2):c.114G>C (p.(Lys38Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65133488C>G" "" "VUS" "" "0000723576" "0" "50" "11" "64884755" "64884755" "subst" "0.000805891" "02325" "FAU_000001" "g.64884755G>A" "" "" "" "ZNHIT2(NM_014205.4):c.371C>T (p.P124L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030272" "3" "70" "11" "64893005" "64893005" "subst" "3.24897E-5" "00006" "MRPL49_000005" "g.64893005A>C" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125533A>C" "" "likely pathogenic (recessive)" "" "0001030273" "3" "70" "11" "64893005" "64893005" "subst" "3.24897E-5" "00006" "MRPL49_000005" "g.64893005A>C" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125533A>C" "" "likely pathogenic (recessive)" "" "0001030274" "3" "70" "11" "64893005" "64893005" "subst" "3.24897E-5" "00006" "MRPL49_000005" "g.64893005A>C" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125533A>C" "" "likely pathogenic (recessive)" "" "0001030275" "3" "70" "11" "64893005" "64893005" "subst" "3.24897E-5" "00006" "MRPL49_000005" "g.64893005A>C" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125533A>C" "" "likely pathogenic (recessive)" "" "0001030276" "3" "70" "11" "64893005" "64893005" "subst" "3.24897E-5" "00006" "MRPL49_000005" "g.64893005A>C" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125533A>C" "" "likely pathogenic (recessive)" "" "0001030277" "3" "70" "11" "64892992" "64892992" "subst" "2.0307E-5" "00006" "MRPL49_000002" "g.64892992C>T" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125520C>T" "" "likely pathogenic (recessive)" "" "0001030278" "3" "70" "11" "64892992" "64892992" "subst" "2.0307E-5" "00006" "MRPL49_000002" "g.64892992C>T" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125520C>T" "" "likely pathogenic (recessive)" "" "0001030279" "3" "70" "11" "64892992" "64892992" "subst" "2.0307E-5" "00006" "MRPL49_000002" "g.64892992C>T" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125520C>T" "" "likely pathogenic (recessive)" "" "0001030280" "3" "70" "11" "64892992" "64892992" "subst" "2.0307E-5" "00006" "MRPL49_000002" "g.64892992C>T" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125520C>T" "" "likely pathogenic (recessive)" "" "0001030281" "3" "70" "11" "64892992" "64892992" "subst" "2.0307E-5" "00006" "MRPL49_000002" "g.64892992C>T" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125520C>T" "" "likely pathogenic (recessive)" "" "0001030282" "3" "70" "11" "64892992" "64892992" "subst" "2.0307E-5" "00006" "MRPL49_000002" "g.64892992C>T" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125520C>T" "" "likely pathogenic (recessive)" "" "0001030283" "1" "70" "11" "64892992" "64892992" "subst" "2.0307E-5" "00006" "MRPL49_000002" "g.64892992C>T" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125520C>T" "" "likely pathogenic (recessive)" "" "0001030284" "3" "70" "11" "64892993" "64892993" "subst" "8.12315E-6" "00006" "MRPL49_000004" "g.64892993G>A" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125521G>A" "" "likely pathogenic (recessive)" "" "0001030285" "3" "70" "11" "64892993" "64892993" "subst" "8.12315E-6" "00006" "MRPL49_000004" "g.64892993G>A" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125521G>A" "" "likely pathogenic (recessive)" "" "0001030286" "2" "70" "11" "64892020" "64892021" "del" "0" "00006" "MRPL49_000003" "g.64892020_64892021del" "" "{PMID:Thomas 2025:40043708}" "" "125_126delTG" "" "Germline" "" "" "0" "" "" "g.65124548_65124549del" "" "likely pathogenic (recessive)" "" "0001030287" "3" "90" "11" "64892992" "64892992" "subst" "2.0307E-5" "00006" "MRPL49_000002" "g.64892992C>T" "" "{PMID:Thomas 2025:40043708}" "" "" "" "Germline" "" "" "0" "" "" "g.65125520C>T" "" "likely pathogenic (recessive)" "" ## 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 MRPL49 ## Count = 22 "{{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}}" "0000322304" "00013885" "50" "431" "0" "431" "0" "c.431C>G" "r.(?)" "p.(Thr144Arg)" "" "0000322305" "00013885" "50" "3049" "0" "3049" "0" "c.*2548G>A" "r.(=)" "p.(=)" "" "0000322306" "00013885" "30" "5566" "0" "5566" "0" "c.*5065T>G" "r.(=)" "p.(=)" "" "0000322307" "00013885" "30" "5623" "0" "5623" "0" "c.*5122T>G" "r.(=)" "p.(=)" "" "0000322308" "00013885" "50" "8116" "0" "8116" "0" "c.*7615C>G" "r.(=)" "p.(=)" "" "0000723576" "00013885" "50" "-5064" "0" "-5064" "0" "c.-5064G>A" "r.(?)" "p.(=)" "" "0001030272" "00013885" "70" "275" "0" "275" "0" "c.275A>C" "r.(?)" "p.(His92Pro)" "" "0001030273" "00013885" "70" "275" "0" "275" "0" "c.275A>C" "r.(?)" "p.(His92Pro)" "" "0001030274" "00013885" "70" "275" "0" "275" "0" "c.275A>C" "r.(?)" "p.(His92Pro)" "" "0001030275" "00013885" "70" "275" "0" "275" "0" "c.275A>C" "r.(?)" "p.(His92Pro)" "" "0001030276" "00013885" "70" "275" "0" "275" "0" "c.275A>C" "r.(?)" "p.(His92Pro)" "" "0001030277" "00013885" "70" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "" "0001030278" "00013885" "70" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "" "0001030279" "00013885" "70" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "" "0001030280" "00013885" "70" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "" "0001030281" "00013885" "70" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "" "0001030282" "00013885" "70" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "" "0001030283" "00013885" "70" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "" "0001030284" "00013885" "70" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "" "0001030285" "00013885" "70" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88His)" "" "0001030286" "00013885" "70" "125" "0" "126" "0" "c.125_126del" "r.(?)" "p.(Val42GlyfsTer2)" "" "0001030287" "00013885" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000402538" "0001030287" "0000466321" "0001030272" "0000466322" "0001030273" "0000466323" "0001030274" "0000466324" "0001030275" "0000466325" "0001030276" "0000466326" "0001030277" "0000466327" "0001030278" "0000466328" "0001030279" "0000466329" "0001030280" "0000466330" "0001030281" "0000466331" "0001030282" "0000466332" "0001030283" "0000466332" "0001030286" "0000466333" "0001030284" "0000466334" "0001030285"