### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRIM2) # 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}}" "TRIM2" "tripartite motif containing 2" "4" "q31.3" "unknown" "NC_000004.11" "UD_132612406704" "" "https://www.LOVD.nl/TRIM2" "" "1" "15974" "23321" "614141" "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/TRIM2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-26 15:08:41" "00000" "2025-02-07 18:57:27" ## 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}}" "00025684" "TRIM2" "transcript variant 1" "003" "NM_015271.3" "" "NP_056086.2" "" "" "" "-85" "6672" "2316" "154125598" "154260474" "00006" "2022-01-26 15:08:06" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "03966" "CMT2R" "Charcot-Marie-Tooth disease, axonal, type 2R (CMT-2R)" "AR" "615490" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TRIM2" "03966" "TRIM2" "05113" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00293559" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293560" "" "" "" "31" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00400214" "" "" "" "1" "" "04188" "{PMID:Magri 2020:32815244}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Italy" ">20y" "0" "" "" "Italy" "Patient 1" "00400911" "" "" "" "1" "" "04188" "{PMID:Magri 2020:32815244}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Italy" ">14y" "0" "" "" "" "Patient 2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00293559" "00198" "00293560" "00198" "00400214" "05113" "00400911" "05113" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03966, 05113 ## Count = 2 "{{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}}" "0000294038" "05113" "00400214" "04188" "Familial, autosomal recessive" "20y" "Bilateral talipes equinovarus (HP:0001776), Motor delay (HP:0001270), Sensorimotor neuropathy (HP:0007141), Vocal cord paralysis (HP:0001605), Bilateral facial weakness (HP:0001349), Dyspnea (HP:0002094), No abnormality of the vestibulocochlear nerve (-HP:0009591), No dysphagia (-HP:0002015), No tongue atrophy (-HP:0012473), Generalized hypotonia (HP:0001290), Areflexia of lower limb (HP:0002522), Reduced tendon reflexes (HP:0001315), Broad-based gait (HP:0002136), Foot dorsiflexor weakness (HP:0009027), No abnormal brainstem MRI signal intensity (-HP:0012747), No abnormality of visual evoked potentials (-HP:0000649), No abnormal auditory evoked potentials (-HP:0006958), Distal upper limb muscle amyotrophy (HP:0007149), Distal upper limb muscle weakness (HP:0008959), Fatiguable weakness of proximal limb muscles (HP:0030200), Restrictive ventilatory defect (HP:0002091), Diaphragmatic weakness (HP:0009113), Hoarse voice (HP:0001609), Distal amyotrophy (HP:0003693), Proximal amyotrophy (HP:0007126), Hand muscle weakness (HP:0030237), Impaired vibration sensation in the lower limbs (HP:0002166), Flexion contracture (HP:0001371), Scoliosis (HP:0002650), Abnormal thorax morphology (HP:0000765), No cognitive impairment (-HP:0100543), No visual impairment (-HP:0000505), No hearing impairment (-HP:0000365)" "00y04m" "" "Bilateral talipes equinovarus (HP:0001776)" "" "" "" "" "" "CMT2R" "CMT" "" "0000294039" "05113" "00400911" "04188" "Familial, autosomal recessive" "14y" "Sensorimotor neuropathy (HP:0007141), No decreased nerve conduction velocity (-HP:0000762), Abnormal single motor unit action potential (HP:0033767), No abnormal brainstem MRI signalintesity (-HP:0012747), No abnormality of the vertebral column (-HP:0000925), Distal upper limb muscle weakness (HP:0008959), Split hand (HP:0001171), Lagopthalmos (HP:0030001), Dyspnea (HP:0002094), Dysphagia (HP:0002015), Stridor (HP:0010307), Nasal speech (HP:0001611), Tongue fasciculations (HP:0001308), Movement abnormality of the tongue (HP:0000182), Hand muscle weakness (HP:0030237), Axial weakness (HP:0003327), Foot dorsiflexor weakness (HP:0009027), Limited knee flexion (HP:0006389), Pelvic organ prolapse (HP:0031607), Inability to walk (HP:0002540), Impaired vibration sensation in the lower limbs (HP:0002166), No abnormality of pain sensation (-HP:0010832), No impaired temperature sensation (-HP:0010829), Abnormal peripheral nervous system morphology (HP:0000759), Abnormal cranial nerve morphology (HP:0001291), Reduced forced vital capacity (HP:0032341), Apnea (HP:0002104), Bilateral talipes equinovarus (HP:0001776), Motor delay (HP:0001270), Vocal cord paralysis (HP:00010605), Bilateral facial weakness (HP:0001349), Dyspnea (HP:0002094), Abnormality of the vestibulocochlear nerve (HP:0009591), Dysphagia (HP:0002015), Tongue atrophy (HP:0012473), Decreased amplitude of sensory action potentials (HP:0007078)" "" "" "Bilateral talipes equinovarus (HP:0001776)" "" "" "" "" "" "CMT2R" "CMT" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000294727" "00293559" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294728" "00293560" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000401458" "00400214" "1" "04188" "04188" "2022-01-25 20:51:55" "" "" "SEQ-NG" "DNA" "" "" "0000402155" "00400911" "1" "04188" "04188" "2022-01-26 17:18:26" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000401458" "TRIM2" "0000402155" "TRIM2" ## 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}}" "0000309508" "0" "30" "4" "154216956" "154216956" "subst" "4.06504E-6" "02330" "TRIM2_000006" "g.154216956G>A" "" "" "" "TRIM2(NM_001130067.2):c.1197G>A (p.G399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153295804G>A" "" "likely benign" "" "0000309509" "0" "50" "4" "154217059" "154217059" "subst" "1.23597E-5" "02330" "TRIM2_000007" "g.154217059G>C" "" "" "" "TRIM2(NM_001130067.2):c.1300G>C (p.V434L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153295907G>C" "" "VUS" "" "0000309510" "0" "30" "4" "154255971" "154255971" "subst" "9.80769E-5" "02330" "TRIM2_000008" "g.154255971T>C" "" "" "" "TRIM2(NM_001130067.2):c.2088T>C (p.F696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153334819T>C" "" "likely benign" "" "0000309511" "0" "10" "4" "154197234" "154197234" "subst" "0.177188" "02330" "TRIM2_000003" "g.154197234T>G" "" "" "" "TRIM2(NM_001130067.2):c.324T>G (p.T108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153276082T>G" "" "benign" "" "0000309512" "0" "30" "4" "154191578" "154191578" "subst" "0.00184922" "02330" "TRIM2_000002" "g.154191578G>A" "" "" "" "TRIM2(NM_001130067.2):c.41G>A (p.R14H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153270426G>A" "" "likely benign" "" "0000309513" "0" "10" "4" "154216548" "154216548" "subst" "0.014958" "02330" "TRIM2_000004" "g.154216548C>T" "" "" "" "TRIM2(NM_001130067.2):c.789C>T (p.N263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153295396C>T" "" "benign" "" "0000309514" "0" "10" "4" "154216710" "154216710" "subst" "0.462407" "02330" "TRIM2_000005" "g.154216710G>A" "" "" "" "TRIM2(NM_001130067.2):c.951G>A (p.T317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153295558G>A" "" "benign" "" "0000521835" "0" "10" "4" "154216695" "154216695" "subst" "0.00162696" "02330" "TRIM2_000009" "g.154216695C>T" "" "" "" "TRIM2(NM_001130067.2):c.936C>T (p.I312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153295543C>T" "" "benign" "" "0000609092" "0" "50" "4" "154245254" "154245254" "subst" "4.08965E-6" "02326" "TRIM2_000010" "g.154245254G>A" "" "" "" "TRIM2(NM_001351056.2):c.1907G>A (p.S636N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153324102G>A" "" "VUS" "" "0000651416" "1" "30" "4" "154191578" "154191578" "subst" "0.00184922" "03575" "TRIM2_000002" "g.154191578G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs146705057}" "Germline" "" "rs146705057" "0" "" "" "g.153270426G>A" "" "likely benign" "" "0000651417" "1" "10" "4" "154216548" "154216548" "subst" "0.014958" "03575" "TRIM2_000004" "g.154216548C>T" "31/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "31 heterozygous, no homozygous; {DB:CLININrs35333794}" "Germline" "" "rs35333794" "0" "" "" "g.153295396C>T" "" "benign" "" "0000689243" "0" "50" "4" "154215582" "154215582" "subst" "1.21864E-5" "02330" "TRIM2_000011" "g.154215582T>C" "" "" "" "TRIM2(NM_001351056.2):c.650T>C (p.V217A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689244" "0" "50" "4" "154245268" "154245268" "subst" "6.95547E-5" "02330" "TRIM2_000012" "g.154245268A>G" "" "" "" "TRIM2(NM_001351056.2):c.1921A>G (p.I641V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719781" "0" "50" "4" "154214141" "154214141" "subst" "8.2969E-6" "02330" "TRIM2_000013" "g.154214141A>G" "" "" "" "TRIM2(NM_001351056.2):c.380A>G (p.E127G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719782" "0" "50" "4" "154216974" "154216974" "subst" "8.12612E-6" "02330" "TRIM2_000014" "g.154216974G>T" "" "" "" "TRIM2(NM_001351056.2):c.1215G>T (p.L405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000836049" "21" "90" "4" "154215493" "154215493" "del" "0" "04188" "TRIM2_000015" "g.154215493del" "" "{PMID:Magri 2020:32815244}" "" "642delT" "" "Germline" "" "" "0" "" "" "g.153294341del" "" "pathogenic (recessive)" "ACMG" "0000836050" "11" "70" "4" "154216690" "154216690" "subst" "0" "04188" "TRIM2_000016" "g.154216690T>C" "" "{PMID:Magri 2020:32815244}" "" "" "" "Germline" "" "" "0" "" "" "g.153295538T>C" "" "likely pathogenic (recessive)" "ACMG" "0000836051" "11" "70" "4" "154256104" "154256104" "subst" "0" "04188" "TRIM2_000018" "g.154256104C>T" "" "{PMID:Magri 2020:32815244}" "" "" "" "Germline" "" "" "0" "" "" "g.153334952C>T" "" "pathogenic (recessive)" "ACMG" "0000836052" "21" "70" "4" "154243880" "154243882" "del" "0" "04188" "TRIM2_000017" "g.154243880_154243882del" "" "{PMID:Magri 2020:32815244}" "" "1859_1861delACA" "" "Germline" "" "" "0" "" "" "g.153322728_153322730del" "" "likely pathogenic (recessive)" "ACMG" "0000850540" "0" "10" "4" "154178549" "154178549" "subst" "0" "02326" "TRIM2_000019" "g.154178549G>A" "" "" "" "TRIM2(NM_001130067.2):c.-48-12941G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850541" "0" "10" "4" "154178697" "154178697" "subst" "0" "02326" "TRIM2_000020" "g.154178697A>G" "" "" "" "TRIM2(NM_001130067.2):c.-48-12793A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850542" "0" "10" "4" "154191710" "154191710" "subst" "0.250197" "02326" "TRIM2_000021" "g.154191710G>A" "" "" "" "TRIM2(NM_001130067.2):c.134+39G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850543" "0" "10" "4" "154216710" "154216710" "subst" "0.462407" "02326" "TRIM2_000005" "g.154216710G>A" "" "" "" "TRIM2(NM_001130067.2):c.951G>A (p.T317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850544" "0" "10" "4" "154237294" "154237294" "subst" "0" "02326" "TRIM2_000022" "g.154237294G>C" "" "" "" "TRIM2(NM_001130067.2):c.1701+143G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886156" "0" "30" "4" "154191578" "154191578" "subst" "0.00184922" "02326" "TRIM2_000002" "g.154191578G>A" "" "" "" "TRIM2(NM_001130067.2):c.41G>A (p.R14H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886157" "0" "30" "4" "154216821" "154216821" "subst" "0.000154444" "02326" "TRIM2_000023" "g.154216821C>T" "" "" "" "TRIM2(NM_001130067.2):c.1062C>T (p.D354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912072" "0" "30" "4" "154245313" "154245313" "subst" "0.000137635" "02330" "TRIM2_000024" "g.154245313C>T" "" "" "" "TRIM2(NM_001375512.1):c.1941+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963034" "0" "30" "4" "154211954" "154211954" "subst" "0" "02330" "TRIM2_000025" "g.154211954A>T" "" "" "" "TRIM2(NM_001130067.2):c.373-2180A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994127" "0" "30" "4" "154191573" "154191573" "subst" "4.47031E-5" "02330" "TRIM2_000026" "g.154191573G>C" "" "" "" "TRIM2(NM_001375512.1):c.36G>C (p.V12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013939" "0" "30" "4" "154212023" "154212023" "subst" "0" "02330" "TRIM2_000027" "g.154212023C>T" "" "" "" "TRIM2(NM_001375488.1):c.511C>T (p.L171F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013940" "0" "30" "4" "154214250" "154214250" "subst" "1.22138E-5" "02326" "TRIM2_000028" "g.154214250C>G" "" "" "" "TRIM2(NM_001130067.2):c.489C>G (p.A163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TRIM2 ## 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}}" "0000309508" "00025684" "30" "1278" "0" "1278" "0" "c.1278G>A" "r.(?)" "p.(Gly426=)" "" "0000309509" "00025684" "50" "1381" "0" "1381" "0" "c.1381G>C" "r.(?)" "p.(Val461Leu)" "" "0000309510" "00025684" "30" "2169" "0" "2169" "0" "c.2169T>C" "r.(?)" "p.(Phe723=)" "" "0000309511" "00025684" "10" "405" "0" "405" "0" "c.405T>G" "r.(?)" "p.(Thr135=)" "" "0000309512" "00025684" "30" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41His)" "" "0000309513" "00025684" "10" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Asn290=)" "" "0000309514" "00025684" "10" "1032" "0" "1032" "0" "c.1032G>A" "r.(?)" "p.(Thr344=)" "" "0000521835" "00025684" "10" "1017" "0" "1017" "0" "c.1017C>T" "r.(?)" "p.(Ile339=)" "" "0000609092" "00025684" "50" "1976" "0" "1976" "0" "c.1976G>A" "r.(?)" "p.(Ser659Asn)" "" "0000651416" "00025684" "30" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41His)" "" "0000651417" "00025684" "10" "870" "0" "870" "0" "c.870C>T" "r.(=)" "p.(=)" "" "0000689243" "00025684" "50" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Val244Ala)" "" "0000689244" "00025684" "50" "1990" "0" "1990" "0" "c.1990A>G" "r.(?)" "p.(Ile664Val)" "" "0000719781" "00025684" "50" "461" "0" "461" "0" "c.461A>G" "r.(?)" "p.(Glu154Gly)" "" "0000719782" "00025684" "50" "1296" "0" "1296" "0" "c.1296G>T" "r.(?)" "p.(Leu432=)" "" "0000836049" "00025684" "90" "642" "0" "642" "0" "c.642del" "r.(?)" "p.(Glu215Lysfs*6)" "" "0000836050" "00025684" "70" "1012" "0" "1012" "0" "c.1012T>C" "r.(?)" "p.(Ser338Pro)" "" "0000836051" "00025684" "70" "2302" "0" "2302" "0" "c.2302C>T" "r.(?)" "p.(Arg768*)" "" "0000836052" "00025684" "70" "1863" "0" "1865" "0" "c.1863_1865del" "r.(?)" "p.(Asn621del)" "" "0000850540" "00025684" "10" "31" "-12938" "31" "-12938" "c.31-12938G>A" "r.(=)" "p.(=)" "" "0000850541" "00025684" "10" "31" "-12790" "31" "-12790" "c.31-12790A>G" "r.(=)" "p.(=)" "" "0000850542" "00025684" "10" "215" "39" "215" "39" "c.215+39G>A" "r.(=)" "p.(=)" "" "0000850543" "00025684" "10" "1032" "0" "1032" "0" "c.1032G>A" "r.(?)" "p.(Thr344=)" "" "0000850544" "00025684" "10" "1782" "143" "1782" "143" "c.1782+143G>C" "r.(=)" "p.(=)" "" "0000886156" "00025684" "30" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41His)" "" "0000886157" "00025684" "30" "1143" "0" "1143" "0" "c.1143C>T" "r.(?)" "p.(Asp381=)" "" "0000912072" "00025684" "30" "2022" "13" "2022" "13" "c.2022+13C>T" "r.(=)" "p.(=)" "" "0000963034" "00025684" "30" "454" "-2180" "454" "-2180" "c.454-2180A>T" "r.(=)" "p.(=)" "" "0000994127" "00025684" "30" "117" "0" "117" "0" "c.117G>C" "r.(?)" "p.(=)" "" "0001013939" "00025684" "30" "454" "-2111" "454" "-2111" "c.454-2111C>T" "r.(=)" "p.(=)" "" "0001013940" "00025684" "30" "570" "0" "570" "0" "c.570C>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000294727" "0000651416" "0000294728" "0000651417" "0000401458" "0000836049" "0000401458" "0000836050" "0000402155" "0000836051" "0000402155" "0000836052"