### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRIM37) # 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}}" "TRIM37" "tripartite motif containing 37" "17" "q" "unknown" "NG_009298.1" "UD_132119136353" "{PMID:Avela et al. 2000:10888877}, {PMID:Jagiello et al. 2003:12754710}, {PMID:Hämäläinen et al. 2004:15108285}, {PMID:Hämäläinen et al. 2006:17100991}, {PMID:Doğanc et al. 2007:17551331}" "" "Finnish Disease Database (Findis) " "1" "7523" "4591" "605073" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/TRIM37_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-08-28 00:00:00" "00015" "2012-09-14 11:16:46" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000271" "TRIM37" "transcript variant 1" "002" "NM_015294.3" "" "NP_056109.1" "" "" "" "-444" "4072" "2895" "57184266" "57075561" "00001" "2012-08-28 13:02:13" "" "" "00000273" "TRIM37" "transcript variant 2" "001" "NM_001005207.2" "" "NP_001005207.1" "" "" "" "-444" "3175" "2895" "57184266" "57059999" "00015" "2012-08-29 14:23:47" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00031" "Mulibrey nanism" "Mulibrey nanism (muscle-liver-brain-eye dwarfism)" "AR" "253250" "" "" "" "00001" "2012-08-28 12:58:45" "00006" "2019-12-17 14:05:46" "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 = 1 "{{geneid}}" "{{diseaseid}}" "TRIM37" "00031" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00302568" "" "" "" "1" "" "00038" "{DOI:Jobic 2017:28815877}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "France" "" "0" "" "" "" "Fam1Pat1" "00302569" "" "" "" "2" "" "00038" "{DOI:Jobic 2017:28815877}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "" "Fam2Pat1" "00302570" "" "" "00302569" "1" "" "00038" "{DOI:Jobic 2017:28815877}" "" "F" "no" "France" "" "0" "" "" "" "Fam2Pat2" "00302575" "" "" "" "1" "" "00038" "{PMID:Kallijärvi 2005:15885686}" "" "" "" "Finland" "" "0" "" "" "" "patient" "00302576" "" "" "" "1" "" "00038" "{PMID:Mozzillo 2016:27256967}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Italy" "" "0" "" "" "" "patient" "00302577" "" "" "" "1" "" "00006" "{PMID:Meyer 2017:28529015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "patient" "00440438" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2700.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00302568" "00198" "00302569" "00198" "00302570" "00198" "00302575" "00031" "00302576" "00198" "00302577" "00198" "00440438" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00031, 00198 ## Count = 7 "{{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}}" "0000229651" "00198" "00302568" "00038" "Familial, autosomal recessive" "26y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Silver-Russell syndrome" "" "0000229652" "00198" "00302569" "00038" "Familial, autosomal recessive" "8y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000229653" "00198" "00302570" "00038" "Familial, autosomal recessive" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000229654" "00031" "00302575" "00038" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "mulibrey nanism" "mulibrey nanism" "" "0000229655" "00198" "00302576" "00038" "Familial, autosomal recessive" "3y" "see paper; ..., intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly, body asymmetry, bilateral fifth finger clinodactyly, left atrial and ventricular enlargement, patent foramen ovale: X-ray hypoplasia twelfth rib bilaterally and coccyx, slender long bones with thick cortex, narrow medullary channels" "" "" "" "" "" "" "" "" "mulibrey nanism" "Silver–Russel syndrome" "" "0000229656" "00198" "00302577" "00006" "Familial, autosomal recessive" "1y7m" "see paper; ..." "" "" "" "" "" "" "" "" "mulibrey nanism" "Silver–Russel syndrome" "" "0000330348" "00198" "00440438" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Mulibrey Syndrome (MIM #253250)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000303689" "00302568" "1" "00038" "00006" "2020-05-25 16:37:36" "" "" "SEQ" "DNA" "" "" "0000303690" "00302569" "1" "00038" "00006" "2020-05-25 16:37:36" "" "" "SEQ" "DNA" "" "" "0000303691" "00302570" "1" "00038" "00006" "2020-05-25 16:37:36" "" "" "SEQ" "DNA" "" "" "0000303697" "00302575" "1" "00038" "00006" "2020-05-25 19:26:03" "" "" "SEQ" "DNA" "" "" "0000303698" "00302576" "1" "00038" "00006" "2020-05-25 19:34:11" "00006" "2020-05-25 19:41:06" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000303699" "00302576" "1" "00006" "00006" "2020-05-25 19:43:25" "" "" "arrayCGH" "DNA" "" "" "0000303700" "00302577" "1" "00006" "00006" "2020-05-25 19:56:10" "" "" "SEQ;SEQ-NG" "DNA" "" "25-gene panel" "0000441923" "00440438" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000303689" "TRIM37" "0000303690" "TRIM37" "0000303691" "TRIM37" "0000303697" "TRIM37" "0000303698" "TRIM37" "0000303699" "TRIM37" "0000303700" "TRIM37" ## 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 = 81 "{{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}}" "0000001497" "0" "99" "17" "57161406" "57161406" "subst" "0" "00015" "TRIM37_000001" "g.57161406C>G" "" "{PMID:Hämäläinen et al. 2006:17100991}" "" "" "1 Australian MUL patient (com-het)" "SUMMARY record" "yes" "rs121908391" "" "" "" "g.59084045C>G" "" "pathogenic" "" "0000001498" "0" "99" "17" "57157240" "57157240" "subst" "0.000817086" "00015" "TRIM37_000002" "g.57157240T>C" "0/95 FIN CON" "{PMID:Avela et al. 2000:10888877}" "" "" "Finnish major mutation (FINmajor): 50 Finnish MUL patients (48 hom and 2 com-het)" "SUMMARY record" "yes" "rs186251998" "" "" "" "g.59079879T>C" "" "pathogenic" "" "0000001499" "0" "99" "17" "57148248" "57148248" "subst" "4.06121E-6" "00015" "TRIM37_000003" "g.57148248G>A" "0/85 CEPH" "{PMID:Hämäläinen et al. 2004:15108285}" "" "" "1 Canadian MUL patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.59070887G>A" "" "pathogenic" "" "0000001500" "3" "99" "17" "57141767" "57141767" "subst" "0" "00015" "TRIM37_000004" "g.57141767C>T" "" "{PMID:Jagiello et al. 2003:12754710}" "" "AB020705: c.855-1G>A" "3 Turkish sibs (hom) with MUL" "SUMMARY record" "yes" "" "" "" "" "g.59064406C>T" "" "pathogenic" "" "0000001501" "3" "99" "17" "57141735" "57141739" "del" "0" "00015" "TRIM37_000005" "g.57141735_57141739del" "0/200 CON" "{PMID:Avela et al. 2000:10888877}" "" "" "1 Czech MUL patient (hom)" "SUMMARY record" "yes" "" "" "" "" "g.59064374_59064378del" "" "pathogenic" "" "0000001502" "0" "99" "17" "57141716" "57141716" "subst" "0" "00015" "TRIM37_000006" "g.57141716C>T" "" "{PMID:Hämäläinen et al. 2006:17100991}" "" "" "1 Australian MUL patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.59064355C>T" "" "pathogenic" "" "0000001503" "0" "99" "17" "57138447" "57138447" "subst" "0" "00015" "TRIM37_000007" "g.57138447C>A" "0/85 CEPH" "{PMID:Hämäläinen et al. 2004:15108285}" "" "" "1 Canadian MUL patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.59061086C>A" "" "pathogenic" "" "0000001504" "0" "99" "17" "57134395" "57134398" "dup" "0" "00015" "TRIM37_000008" "g.57134395_57134398dup" "0/85 CEPH" "{PMID:Hämäläinen et al. 2004:15108285}" "" "" "1 Canadian MUL patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.59057034_59057037dup" "" "pathogenic" "" "0000001505" "3" "95" "17" "57119503" "57128105" "del" "0" "00015" "TRIM37_000009" "g.57119503_57128105del" "0/85 CEPH" "{PMID:Hämäläinen et al. 2004:15108285}" "" "" "1 Sisilian MUL patient (hom)" "SUMMARY record" "yes" "" "" "" "" "g.59042142_59050744del" "" "pathogenic" "" "0000001506" "3" "99" "17" "57126724" "57126724" "dup" "0" "00015" "TRIM37_000010" "g.57126724dup" "0/190 CON" "{PMID:Avela et al. 2000:10888877}" "" "c.1346_1347insA" "1 American MUL patient (hom)" "SUMMARY record" "yes" "" "" "" "" "g.59049363dup" "" "pathogenic" "" "0000001507" "0" "99" "17" "57126658" "57126658" "subst" "8.12236E-6" "00015" "TRIM37_000011" "g.57126658G>A" "0/85 CEPH" "{PMID:Hämäläinen et al. 2004:15108285}" "" "" "1 Canadian (het) and 1 Tunisian-German (hom) MUL patient" "SUMMARY record" "yes" "" "" "" "" "g.59049297G>A" "" "pathogenic" "" "0000001508" "3" "99" "17" "57109311" "57109312" "del" "0" "00015" "TRIM37_000012" "g.57109311_57109312del" "0/100 CON" "{PMID:Doğanc et al. 2007:17551331}" "" "" "1 Turkish MUL patient (hom)" "SUMMARY record" "yes" "" "" "" "" "g.59031950_59031951del" "" "pathogenic" "" "0000001509" "3" "99" "17" "57105977" "57105977" "subst" "8.12348E-6" "00015" "TRIM37_000013" "g.57105977G>A" "0/85 CEPH" "{PMID:Hämäläinen et al. 2004:15108285}" "" "" "1 Saudi-Arabian MUL patient (hom)" "SUMMARY record" "yes" "" "" "" "" "g.59028616G>A" "" "pathogenic" "" "0000001510" "0" "99" "17" "57105822" "57105822" "del" "0" "00015" "TRIM37_000014" "g.57105822del" "0/316 CON" "{PMID:Avela et al. 2000:10888877}" "" "" "Finnish minor mutation (FINminor), 2 Finnish MUL patients (het)" "SUMMARY record" "yes" "" "" "" "" "g.59028461del" "" "pathogenic" "" "0000016103" "0" "99" "17" "57181696" "57181696" "del" "8.1213E-6" "00015" "TRIM37_000015" "g.57181696del" "0/95 CEPH" "Hämäläinen, Sonnet, Lehesjoki, unpublished data" "" "" "1 French MUL patient (hom)" "SUMMARY record" "yes" "rs312262706" "" "" "" "g.59104335del" "" "pathogenic" "" "0000016106" "0" "99" "17" "57148184" "57148308" "del" "0" "00015" "TRIM37_000017" "g.(?_57148184)_(57148308_?)del" "" "Kettunen, Hurst, Lehesjoki unpublished data" "" "" "1 British MUL patient (hom). Exon 9 deletion." "SUMMARY record" "yes" "" "" "" "" "g.59070823_59070947del" "" "pathogenic" "" "0000016107" "0" "77" "17" "57134269" "57134269" "subst" "0" "00015" "TRIM37_000018" "g.57134269T>C" "0/95 CEPH" "Hämäläinen, Lipsanen-Nyman, Lehesjoki, unpublished data" "" "" "1 Finnish MUL patient (com-het)" "SUMMARY record" "yes" "rs312262705" "" "" "" "g.59056908T>C" "" "likely pathogenic" "" "0000016108" "0" "99" "17" "57128660" "57128660" "del" "0" "00015" "TRIM37_000019" "g.57128660del" "0/95 CEPH" "{PMID:Kumpf et al. 2013:23385855}" "vallijaa" "" "1 German MUL patient (hom)" "SUMMARY record" "yes" "rs312262704" "0" "" "" "g.59051299del" "" "pathogenic" "" "0000016109" "0" "99" "17" "57109294" "57109295" "dup" "0" "00015" "TRIM37_000020" "g.57109294_57109295dup" "1/95 CEPH (het)" "Hämäläinen, Bartholdi, Lehesjoki, unpublished data" "" "" "1 Swiss MUL patient (com-het)" "SUMMARY record" "yes" "rs312262703" "" "" "" "g.59031933_59031934dup" "" "pathogenic" "" "0000016110" "0" "99" "17" "57106034" "57106034" "subst" "1.2201E-5" "00015" "TRIM37_000021" "g.57106034G>A" "" "Kettunen, Pachucki, Lehesjoki unpublished data" "" "" "1 Polish MUL patient (com-het)" "SUMMARY record" "yes" "rs312262702" "" "" "" "g.59028673G>A" "" "pathogenic" "" "0000016111" "0" "99" "17" "57105908" "57105908" "del" "0" "00015" "TRIM37_000022" "g.57105908del" "" "Kettunen, Pachucki, Lehesjoki unpublished data" "" "" "1 Polish MUL patient (com-het)" "SUMMARY record" "yes" "rs312262701" "" "" "" "g.59028547del" "" "pathogenic" "" "0000016112" "3" "99" "17" "57093109" "57093110" "ins" "0" "00015" "TRIM37_000023" "g.57093109_57093110insTA" "" "Kettunen, Okur, Lehesjoki unpublished data" "" "" "1 Turkish MUL family (hom)" "SUMMARY record" "yes" "rs312262700" "" "" "" "g.59015748_59015749insTA" "" "pathogenic" "" "0000016954" "1" "99" "17" "57165706" "57165706" "subst" "8.15076E-6" "00038" "TRIM37_000024" "g.57165706A>G" "" "{PMID:Kallijärvi 2005:15885686}" "" "" "" "Germline" "yes" "" "0" "" "" "g.59088345A>G" "" "pathogenic (recessive)" "" "0000250872" "0" "10" "17" "57141779" "57141779" "del" "0" "02326" "TRIM37_000032" "g.57141779del" "" "" "" "TRIM37(NM_001005207.2):c.810-3del (p.?), TRIM37(NM_015294.6):c.810-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59064418del" "" "benign" "" "0000317052" "0" "50" "17" "57126622" "57126622" "subst" "0.000101529" "01943" "TRIM37_000027" "g.57126622C>T" "" "" "" "TRIM37(NM_015294.6):c.1447G>A (p.E483K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59049261C>T" "" "VUS" "" "0000562457" "0" "30" "17" "57058042" "57058042" "subst" "2.43839E-5" "01804" "TRIM37_000034" "g.57058042T>C" "" "" "" "PPM1E(NM_014906.4):c.1918T>C (p.(Tyr640His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58980681T>C" "" "likely benign" "" "0000562458" "0" "30" "17" "57093035" "57093035" "subst" "4.06349E-6" "01943" "TRIM37_000035" "g.57093035C>G" "" "" "" "TRIM37(NM_015294.6):c.2512G>C (p.V838L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59015674C>G" "" "likely benign" "" "0000562459" "0" "30" "17" "57093035" "57093035" "subst" "0.00282412" "01804" "TRIM37_000025" "g.57093035C>T" "" "" "" "TRIM37(NM_001005207.2):c.2512G>A (p.(Val838Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59015674C>T" "" "likely benign" "" "0000562460" "0" "30" "17" "57093093" "57093093" "subst" "1.62567E-5" "01943" "TRIM37_000036" "g.57093093G>A" "" "" "" "TRIM37(NM_015294.6):c.2454C>T (p.I818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59015732G>A" "" "likely benign" "" "0000562461" "0" "30" "17" "57105986" "57105986" "subst" "6.09286E-5" "01804" "TRIM37_000037" "g.57105986C>T" "" "" "" "TRIM37(NM_001005207.2):c.2047G>A (p.(Ala683Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59028625C>T" "" "likely benign" "" "0000562462" "0" "50" "17" "57109286" "57109286" "subst" "0.00179158" "01943" "TRIM37_000038" "g.57109286C>T" "" "" "" "TRIM37(NM_001005207.2):c.1919G>A (p.(Arg640His)), TRIM37(NM_015294.6):c.1919G>A (p.R640H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59031925C>T" "" "VUS" "" "0000562463" "0" "50" "17" "57109286" "57109286" "subst" "0.00179158" "01804" "TRIM37_000038" "g.57109286C>T" "" "" "" "TRIM37(NM_001005207.2):c.1919G>A (p.(Arg640His)), TRIM37(NM_015294.6):c.1919G>A (p.R640H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59031925C>T" "" "VUS" "" "0000562464" "0" "30" "17" "57109454" "57109454" "subst" "0.00127226" "01804" "TRIM37_000039" "g.57109454G>A" "" "" "" "TRIM37(NM_001005207.2):c.1754-3C>T (p.?), TRIM37(NM_001353084.1):c.1754-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59032093G>A" "" "likely benign" "" "0000562466" "0" "50" "17" "57125171" "57125173" "del" "0" "01804" "TRIM37_000041" "g.57125171_57125173del" "" "" "" "TRIM37(NM_001005207.2):c.1538_1540del (p.(Leu513_Ser514delinsPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59047810_59047812del" "" "VUS" "" "0000562468" "0" "50" "17" "57125178" "57125178" "subst" "0" "01804" "TRIM37_000043" "g.57125178G>C" "" "" "" "TRIM37(NM_001005207.2):c.1533C>G (p.(His511Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59047817G>C" "" "VUS" "" "0000562469" "0" "50" "17" "57125179" "57125179" "subst" "0" "01804" "TRIM37_000044" "g.57125179T>A" "" "" "" "TRIM37(NM_001005207.2):c.1532A>T (p.(His511Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59047818T>A" "" "VUS" "" "0000562470" "0" "30" "17" "57126683" "57126683" "subst" "0" "01943" "TRIM37_000045" "g.57126683G>T" "" "" "" "TRIM37(NM_015294.6):c.1386C>A (p.P462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59049322G>T" "" "likely benign" "" "0000562472" "0" "30" "17" "57140009" "57140009" "subst" "5.68898E-5" "01804" "TRIM37_000047" "g.57140009G>C" "" "" "" "TRIM37(NM_001005207.2):c.861C>G (p.(Ser287Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59062648G>C" "" "likely benign" "" "0000562473" "0" "30" "17" "57140015" "57140015" "subst" "0.0170205" "01804" "TRIM37_000031" "g.57140015G>A" "" "" "" "TRIM37(NM_001005207.2):c.861-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59062654G>A" "" "likely benign" "" "0000562474" "0" "50" "17" "57141755" "57141755" "subst" "0" "01943" "TRIM37_000048" "g.57141755G>C" "" "" "" "TRIM37(NM_015294.6):c.821C>G (p.P274R, p.(Pro274Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59064394G>C" "" "VUS" "" "0000562476" "0" "30" "17" "57141779" "57141779" "del" "0" "01804" "TRIM37_000032" "g.57141779del" "" "" "" "TRIM37(NM_001005207.2):c.810-3del (p.?), TRIM37(NM_015294.6):c.810-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59064418del" "" "likely benign" "" "0000562478" "0" "30" "17" "57148256" "57148256" "subst" "8.12268E-5" "01804" "TRIM37_000051" "g.57148256A>G" "" "" "" "TRIM37(NM_001005207.2):c.737T>C (p.(Met246Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59070895A>G" "" "likely benign" "" "0000562479" "0" "50" "17" "57157159" "57157159" "subst" "4.06134E-6" "01943" "TRIM37_000052" "g.57157159G>C" "" "" "" "TRIM37(NM_015294.6):c.572C>G (p.A191G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59079798G>C" "" "VUS" "" "0000562480" "0" "30" "17" "57158552" "57158552" "subst" "0.00629112" "01804" "TRIM37_000053" "g.57158552G>A" "" "" "" "TRIM37(NM_001005207.2):c.398C>T (p.(Ala133Val)), TRIM37(NM_001005207.5):c.398C>T (p.A133V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59081191G>A" "" "likely benign" "" "0000562481" "0" "30" "17" "57158552" "57158552" "subst" "0.00629112" "02329" "TRIM37_000053" "g.57158552G>A" "" "" "" "TRIM37(NM_001005207.2):c.398C>T (p.(Ala133Val)), TRIM37(NM_001005207.5):c.398C>T (p.A133V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59081191G>A" "" "likely benign" "" "0000616716" "0" "50" "17" "57125174" "57125175" "ins" "0" "01804" "TRIM37_000054" "g.57125174_57125175insAT" "" "" "" "TRIM37(NM_001005207.2):c.1536_1537insAT (p.(Leu513IlefsTer17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59047813_59047814insAT" "" "VUS" "" "0000624993" "3" "77" "17" "57093110" "57093111" "ins" "0" "00038" "TRIM37_000055" "g.57093110_57093111insTA" "" "{PMID:Meyer 2017:28529015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.59015749_59015750insTA" "" "pathogenic (recessive)" "" "0000624996" "11" "77" "17" "57106096" "57106096" "subst" "0" "00038" "TRIM37_000057" "g.57106096T>C" "" "{PMID:Mozzillo 2016:27256967}" "" "" "" "Germline" "yes" "" "0" "" "" "g.59028735T>C" "" "likely pathogenic (recessive)" "" "0000624997" "21" "77" "17" "57165752" "57165752" "subst" "8.13981E-6" "00038" "TRIM37_000058" "g.57165752G>A" "" "{PMID:Jobic 2017:28815877}" "" "" "" "Germline" "yes" "" "0" "" "" "g.59088391G>A" "" "pathogenic (recessive)" "" "0000624998" "11" "77" "17" "57119480" "57127793" "del" "0" "00038" "TRIM37_000059" "g.57119480_57127793del" "" "{PMID:Jobic 2017:28815877}" "" "g.57119478_57127818del" "" "Germline" "yes" "" "0" "" "" "g.59042119_59050432del" "" "pathogenic (recessive)" "" "0000624999" "11" "77" "17" "57144661" "57148541" "del" "0" "00038" "TRIM37_000060" "g.57144661_57148541del" "" "{PMID:Jobic 2017:28815877}" "" "" "" "Germline" "yes" "" "0" "" "" "g.59067300_59071180del" "" "pathogenic (recessive)" "" "0000667062" "21" "77" "17" "57165752" "57165752" "subst" "8.13981E-6" "00038" "TRIM37_000058" "g.57165752G>A" "" "{PMID:Jobic 2017:28815877}" "" "" "" "Germline" "yes" "" "0" "" "" "g.59088391G>A" "" "pathogenic (recessive)" "" "0000667063" "21" "77" "17" "57165752" "57165752" "subst" "8.13981E-6" "00038" "TRIM37_000058" "g.57165752G>A" "" "{PMID:Jobic 2017:28815877}" "" "" "" "Germline" "yes" "" "0" "" "" "g.59088391G>A" "" "pathogenic (recessive)" "" "0000667064" "11" "77" "17" "57144661" "57148541" "del" "0" "00038" "TRIM37_000060" "g.57144661_57148541del" "" "{PMID:Jobic 2017:28815877}" "" "" "" "Germline" "yes" "" "0" "" "" "g.59067300_59071180del" "" "pathogenic (recessive)" "" "0000667065" "2" "90" "17" "57157240" "57157240" "subst" "0.000817086" "00038" "TRIM37_000002" "g.57157240T>C" "" "{PMID:Kallijärvi 2005:15885686}" "" "" "" "Germline" "" "rs186251998" "0" "" "" "g.59079879T>C" "" "pathogenic (recessive)" "" "0000667066" "21" "90" "17" "57086110" "57100000" "del" "0" "00006" "TRIM37_000061" "g.(57079076_57086110)_(57229241_57100000)del" "" "{PMID:Mozzillo 2016:27256967}" "" "57086110_57229241del" "143 Kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000692413" "0" "30" "17" "57105793" "57105793" "subst" "0.000587261" "01943" "TRIM37_000062" "g.57105793T>C" "" "" "" "TRIM37(NM_001005207.2):c.2240A>G (p.(Asn747Ser)), TRIM37(NM_001353084.1):c.2240A>G (p.N747S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692414" "0" "50" "17" "57125081" "57125081" "subst" "0" "01804" "TRIM37_000063" "g.57125081T>C" "" "" "" "TRIM37(NM_001005207.2):c.1630A>G (p.(Ser544Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726545" "0" "30" "17" "57105793" "57105793" "subst" "0.000587261" "01804" "TRIM37_000062" "g.57105793T>C" "" "" "" "TRIM37(NM_001005207.2):c.2240A>G (p.(Asn747Ser)), TRIM37(NM_001353084.1):c.2240A>G (p.N747S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726546" "0" "30" "17" "57125141" "57125141" "subst" "7.7178E-5" "01804" "TRIM37_000064" "g.57125141A>C" "" "" "" "TRIM37(NM_001005207.2):c.1570T>G (p.(Tyr524Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808145" "0" "50" "17" "57079064" "57079064" "subst" "3.2572E-5" "01943" "TRIM37_000065" "g.57079064C>T" "" "" "" "TRIM37(NM_001353084.1):c.2734G>A (p.D912N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808146" "0" "50" "17" "57119210" "57119210" "subst" "1.21817E-5" "01804" "TRIM37_000066" "g.57119210C>T" "" "" "" "TRIM37(NM_001005207.2):c.1717G>A (p.(Glu573Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808147" "0" "30" "17" "57126712" "57126712" "subst" "0.000239608" "01804" "TRIM37_000028" "g.57126712A>T" "" "" "" "TRIM37(NM_001005207.2):c.1357T>A (p.(Leu453Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831175" "0" "70" "17" "57168657" "57168660" "del" "0" "03779" "TRIM37_000067" "g.57168657_57168660del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000865389" "0" "30" "17" "57094760" "57094760" "subst" "4.06114E-6" "01943" "TRIM37_000068" "g.57094760G>C" "" "" "" "TRIM37(NM_001353084.1):c.2283C>G (p.P761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865390" "0" "50" "17" "57109454" "57109454" "subst" "0.00127226" "01943" "TRIM37_000039" "g.57109454G>A" "" "" "" "TRIM37(NM_001005207.2):c.1754-3C>T (p.?), TRIM37(NM_001353084.1):c.1754-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894062" "0" "30" "17" "57119179" "57119179" "subst" "0.00087715" "02326" "TRIM37_000069" "g.57119179G>T" "" "" "" "TRIM37(NM_015294.6):c.1748C>A (p.P583H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894063" "0" "50" "17" "57126732" "57126732" "subst" "1.21866E-5" "02326" "TRIM37_000070" "g.57126732C>T" "" "" "" "TRIM37(NM_015294.6):c.1337G>A (p.R446Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000903260" "0" "70" "17" "57168657" "57168660" "del" "0" "03779" "TRIM37_000067" "g.57168657_57168660del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000905240" "0" "50" "17" "57060542" "57060542" "del" "0" "03779" "TRIM37_000071" "g.57060542del" "" "" "" "" "" "Unknown" "" "rs1332439415" "0" "" "" "" "" "VUS" "" "0000930833" "0" "30" "17" "57058177" "57058177" "subst" "0.0033223" "01804" "TRIM37_000072" "g.57058177C>T" "" "" "" "PPM1E(NM_014906.4):c.2053C>T (p.(Pro685Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000939865" "3" "70" "17" "57134281" "57134282" "ins" "0" "00006" "TRIM37_000073" "g.57134281_57134282insGCGAGTAAGTC" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.59056920_59056921insGCGAGTAAGTC" "" "likely pathogenic (recessive)" "" "0000950964" "0" "30" "17" "57093167" "57093167" "subst" "0" "01804" "TRIM37_000074" "g.57093167A>G" "" "" "" "TRIM37(NM_001005207.2):c.2387-7T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969110" "0" "30" "17" "57093117" "57093117" "subst" "0.000329325" "02326" "TRIM37_000075" "g.57093117G>A" "" "" "" "TRIM37(NM_015294.6):c.2430C>T (p.P810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982658" "0" "30" "17" "57076830" "57076830" "subst" "0" "01804" "TRIM37_000076" "g.57076830A>C" "" "" "" "TRIM37(NM_015294.6):c.2813-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022585" "0" "30" "17" "57165714" "57165714" "subst" "0" "03779" "TRIM37_000077" "g.57165714T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001042020" "0" "50" "17" "57079025" "57079025" "subst" "8.1316E-5" "01804" "TRIM37_000078" "g.57079025C>T" "" "" "" "TRIM37(NM_015294.6):c.2746G>A (p.(Glu916Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042021" "0" "30" "17" "57126657" "57126657" "subst" "1.2183E-5" "01804" "TRIM37_000079" "g.57126657C>T" "" "" "" "TRIM37(NM_015294.6):c.1412G>A (p.(Arg471Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042022" "0" "50" "17" "57141755" "57141755" "subst" "0" "01804" "TRIM37_000048" "g.57141755G>C" "" "" "" "TRIM37(NM_015294.6):c.821C>G (p.P274R, p.(Pro274Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042023" "0" "30" "17" "57168710" "57168710" "subst" "0" "01804" "TRIM37_000080" "g.57168710G>T" "" "" "" "TRIM37(NM_015294.6):c.124-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042024" "0" "50" "17" "57181685" "57181685" "subst" "0" "01804" "TRIM37_000081" "g.57181685C>T" "" "" "" "TRIM37(NM_015294.6):c.92G>A (p.(Cys31Tyr))" "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 TRIM37 ## Count = 135 "{{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}}" "0000001497" "00000271" "99" "326" "0" "326" "0" "c.326G>C" "r.(326g>c)" "p.(Cys109Ser)" "5" "0000001498" "00000271" "99" "493" "-2" "493" "-2" "c.493-2A>G" "r.493_497delgaaag" "p.Arg166Cysfs*10" "6i" "0000001499" "00000271" "99" "745" "0" "745" "0" "c.745C>T" "r.(745c>u)" "p.(Gln249*)" "9" "0000001500" "00000271" "99" "810" "-1" "810" "-1" "c.810-1G>A" "r.810_817delugaauuag" "p.Glu271Alafs*64" "9i" "0000001501" "00000271" "99" "838" "0" "842" "0" "c.838_842del" "r.838_842delacuuu" "p.Thr280Cysfs*56" "10" "0000001502" "00000271" "99" "860" "0" "860" "0" "c.860G>A" "r.810_860del" "p.Glu271_Ser287del" "10" "0000001503" "00000271" "99" "965" "0" "965" "0" "c.965G>T" "r.965g>u" "p.Gly322Val" "12" "0000001504" "00000271" "99" "1037" "0" "1040" "0" "c.1037_1040dup" "r.(1037_1040dupagau)" "p.(Met347Ilefs*8)" "13" "0000001505" "00000271" "99" "1314" "507" "1668" "-207" "c.1314+507_1668-207del" "r.(1315_1667del)" "p.(Arg439Valfs*5)" "14i_16i" "0000001506" "00000271" "99" "1346" "0" "1346" "0" "c.1346dup" "r.1346dupa" "p.Ser450Valfs*9" "15" "0000001507" "00000271" "99" "1411" "0" "1411" "0" "c.1411C>T" "r.(1411c>u)" "p.(Arg471*)" "15" "0000001508" "00000271" "99" "1894" "0" "1895" "0" "c.1894_1895del" "r.(?)" "p.(Glu632Lysfs*25)" "18" "0000001509" "00000271" "99" "2056" "0" "2056" "0" "c.2056C>T" "r.(2056c>u)" "p.(Arg686*)" "19" "0000001510" "00000271" "99" "2212" "0" "2212" "0" "c.2212del" "r.2212delg" "p.Glu738Asnfs*31" "19" "0000016103" "00000271" "99" "81" "0" "81" "0" "c.81del" "r.(?)" "p.(Cys28Valfs*17)" "2" "0000016103" "00000273" "99" "81" "0" "81" "0" "c.81del" "r.(?)" "p.(Cys28Valfs*17)" "2" "0000016106" "00000271" "99" "685" "-1" "809" "1" "c.685-?_809+?del" "r.(685_809del)" "p.(Leu229*)" "9" "0000016106" "00000273" "99" "685" "-1" "809" "1" "c.685-?_809+?del" "r.(685_809)" "p.(Leu229*)" "9" "0000016107" "00000271" "77" "1166" "0" "1166" "0" "c.1166A>G" "r.(1166a>g)" "p.(Tyr389Cys)" "13" "0000016107" "00000273" "77" "1166" "0" "1166" "0" "c.1166A>G" "r.(1166a>g)" "p.(Tyr389Cys)" "13" "0000016108" "00000271" "99" "1233" "0" "1233" "0" "c.1233del" "r.(?)" "p.(Lys411Asnfs*23)" "14" "0000016108" "00000273" "99" "1233" "0" "1233" "0" "c.1233del" "r.(?)" "p.(Lys411Asnfs*23)" "14" "0000016109" "00000271" "99" "1910" "0" "1911" "0" "c.1910_1911dup" "r.(?)" "p.(Gln638Tyrfs*36)" "18" "0000016110" "00000271" "99" "1999" "0" "1999" "0" "c.1999C>T" "r.(1999c>u)" "p.(Arg667*)" "19" "0000016111" "00000271" "99" "2125" "0" "2125" "0" "c.2125del" "r.(?)" "p.(Met709Cysfs*60)" "19" "0000016112" "00000271" "99" "2438" "0" "2439" "0" "c.2438_2439insAT" "r.(2438_2439insau)" "p.(Ile814*)" "21" "0000016954" "00000271" "99" "227" "0" "227" "0" "c.227T>C" "r.(227u>c)" "p.(Leu76Pro)" "4" "0000016954" "00000273" "90" "227" "0" "227" "0" "c.227T>C" "r.(227u>c)" "p.(Leu76Pro)" "4" "0000250872" "00000271" "10" "810" "-3" "810" "-3" "c.810-3del" "r.spl?" "p.?" "" "0000250872" "00000273" "10" "810" "-3" "810" "-3" "c.810-3del" "r.spl?" "p.?" "" "0000317052" "00000271" "50" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Glu483Lys)" "" "0000317052" "00000273" "50" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Glu483Lys)" "" "0000562457" "00000271" "30" "21591" "0" "21591" "0" "c.*18696A>G" "r.(=)" "p.(=)" "" "0000562457" "00000273" "30" "5132" "0" "5132" "0" "c.*2237A>G" "r.(=)" "p.(=)" "" "0000562458" "00000271" "30" "2512" "0" "2512" "0" "c.2512G>C" "r.(?)" "p.(Val838Leu)" "" "0000562458" "00000273" "30" "2512" "0" "2512" "0" "c.2512G>C" "r.(?)" "p.(Val838Leu)" "" "0000562459" "00000271" "30" "2512" "0" "2512" "0" "c.2512G>A" "r.(?)" "p.(Val838Ile)" "" "0000562459" "00000273" "30" "2512" "0" "2512" "0" "c.2512G>A" "r.(?)" "p.(Val838Ile)" "" "0000562460" "00000271" "30" "2454" "0" "2454" "0" "c.2454C>T" "r.(?)" "p.(Ile818=)" "" "0000562460" "00000273" "30" "2454" "0" "2454" "0" "c.2454C>T" "r.(?)" "p.(Ile818=)" "" "0000562461" "00000271" "30" "2047" "0" "2047" "0" "c.2047G>A" "r.(?)" "p.(Ala683Thr)" "" "0000562461" "00000273" "30" "2047" "0" "2047" "0" "c.2047G>A" "r.(?)" "p.(Ala683Thr)" "" "0000562462" "00000271" "50" "1919" "0" "1919" "0" "c.1919G>A" "r.(?)" "p.(Arg640His)" "" "0000562462" "00000273" "50" "1919" "0" "1919" "0" "c.1919G>A" "r.(?)" "p.(Arg640His)" "" "0000562463" "00000271" "50" "1919" "0" "1919" "0" "c.1919G>A" "r.(?)" "p.(Arg640His)" "" "0000562463" "00000273" "50" "1919" "0" "1919" "0" "c.1919G>A" "r.(?)" "p.(Arg640His)" "" "0000562464" "00000271" "30" "1754" "-3" "1754" "-3" "c.1754-3C>T" "r.spl?" "p.?" "" "0000562464" "00000273" "30" "1754" "-3" "1754" "-3" "c.1754-3C>T" "r.spl?" "p.?" "" "0000562466" "00000271" "50" "1538" "0" "1540" "0" "c.1538_1540del" "r.(?)" "p.(Leu513_Ser514delinsPro)" "" "0000562466" "00000273" "50" "1538" "0" "1540" "0" "c.1538_1540del" "r.(?)" "p.(Leu513_Ser514delinsPro)" "" "0000562468" "00000271" "50" "1533" "0" "1533" "0" "c.1533C>G" "r.(?)" "p.(His511Gln)" "" "0000562468" "00000273" "50" "1533" "0" "1533" "0" "c.1533C>G" "r.(?)" "p.(His511Gln)" "" "0000562469" "00000271" "50" "1532" "0" "1532" "0" "c.1532A>T" "r.(?)" "p.(His511Leu)" "" "0000562469" "00000273" "50" "1532" "0" "1532" "0" "c.1532A>T" "r.(?)" "p.(His511Leu)" "" "0000562470" "00000271" "30" "1386" "0" "1386" "0" "c.1386C>A" "r.(?)" "p.(Pro462=)" "" "0000562470" "00000273" "30" "1386" "0" "1386" "0" "c.1386C>A" "r.(?)" "p.(Pro462=)" "" "0000562472" "00000271" "30" "861" "0" "861" "0" "c.861C>G" "r.(?)" "p.(Ser287Arg)" "" "0000562472" "00000273" "30" "861" "0" "861" "0" "c.861C>G" "r.(?)" "p.(Ser287Arg)" "" "0000562473" "00000271" "30" "861" "-6" "861" "-6" "c.861-6C>T" "r.(=)" "p.(=)" "" "0000562473" "00000273" "30" "861" "-6" "861" "-6" "c.861-6C>T" "r.(=)" "p.(=)" "" "0000562474" "00000271" "50" "821" "0" "821" "0" "c.821C>G" "r.(?)" "p.(Pro274Arg)" "" "0000562474" "00000273" "50" "821" "0" "821" "0" "c.821C>G" "r.(?)" "p.(Pro274Arg)" "" "0000562476" "00000271" "30" "810" "-3" "810" "-3" "c.810-3del" "r.spl?" "p.?" "" "0000562476" "00000273" "30" "810" "-3" "810" "-3" "c.810-3del" "r.spl?" "p.?" "" "0000562478" "00000271" "30" "737" "0" "737" "0" "c.737T>C" "r.(?)" "p.(Met246Thr)" "" "0000562478" "00000273" "30" "737" "0" "737" "0" "c.737T>C" "r.(?)" "p.(Met246Thr)" "" "0000562479" "00000271" "50" "572" "0" "572" "0" "c.572C>G" "r.(?)" "p.(Ala191Gly)" "" "0000562479" "00000273" "50" "572" "0" "572" "0" "c.572C>G" "r.(?)" "p.(Ala191Gly)" "" "0000562480" "00000271" "30" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Ala133Val)" "" "0000562480" "00000273" "30" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Ala133Val)" "" "0000562481" "00000271" "30" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Ala133Val)" "" "0000562481" "00000273" "30" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Ala133Val)" "" "0000616716" "00000271" "50" "1536" "0" "1537" "0" "c.1536_1537insAT" "r.(?)" "p.(Leu513IlefsTer17)" "" "0000616716" "00000273" "50" "1536" "0" "1537" "0" "c.1536_1537insAT" "r.(?)" "p.(Leu513IlefsTer17)" "" "0000624993" "00000271" "77" "2437" "0" "2438" "0" "c.2437_2438insAT" "r.(?)" "p.(Leu813Tyrfs*2)" "21" "0000624993" "00000273" "70" "2437" "0" "2438" "0" "c.2437_2438insAT" "r.(?)" "p.(Leu813Tyrfs*2)" "21" "0000624996" "00000271" "77" "1949" "-12" "1949" "-12" "c.1949-12A>G" "r.1948_1949ins1949-11_1949-1" "p.Ala650Valfs*27" "18i" "0000624996" "00000273" "70" "1949" "-12" "1949" "-12" "c.1949-12A>G" "r.1948_1949ins1949-11_1949-1" "p.Ala650Valfs*27" "18i" "0000624997" "00000271" "77" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61*)" "4" "0000624997" "00000273" "70" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61*)" "4" "0000624998" "00000271" "77" "1314" "782" "1668" "-221" "c.1314+782_1668-221del" "r.?" "p.(Arg439Valfs*5)" "14i_16i" "0000624998" "00000273" "70" "1314" "782" "1668" "-221" "c.1314+782_1668-221del" "r.?" "p.(Arg439Valfs*5)" "14i_16i" "0000624999" "00000271" "77" "685" "-233" "810" "-2895" "c.685-233_810-2895del" "r.?" "p.(Leu229*)" "8i_9i" "0000624999" "00000273" "70" "685" "-233" "810" "-2895" "c.685-233_810-2895del" "r.?" "p.(Leu229*)" "8i_9i" "0000667062" "00000271" "77" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61*)" "4" "0000667063" "00000271" "77" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61*)" "4" "0000667064" "00000271" "77" "685" "-233" "810" "-2895" "c.685-233_810-2895del" "r.?" "p.(Leu229*)" "8i_9i" "0000667065" "00000273" "90" "493" "-2" "493" "-2" "c.493-2A>G" "r.(493_497del)" "p.(Arg166Cysfs*10)" "6i" "0000667066" "00000271" "90" "-45419" "0" "2695" "3579" "c.(?_-45419)_(2695+3579_2696-1)del" "r.0?" "p.0?" "" "0000667066" "00000273" "90" "-45419" "0" "2695" "3579" "c.(?_-45419)_(2695+3579_2696-1)del" "r.0?" "p.0?" "" "0000692413" "00000271" "30" "2240" "0" "2240" "0" "c.2240A>G" "r.(?)" "p.(Asn747Ser)" "" "0000692413" "00000273" "30" "2240" "0" "2240" "0" "c.2240A>G" "r.(?)" "p.(Asn747Ser)" "" "0000692414" "00000271" "50" "1630" "0" "1630" "0" "c.1630A>G" "r.(?)" "p.(Ser544Gly)" "" "0000692414" "00000273" "50" "1630" "0" "1630" "0" "c.1630A>G" "r.(?)" "p.(Ser544Gly)" "" "0000726545" "00000271" "30" "2240" "0" "2240" "0" "c.2240A>G" "r.(?)" "p.(Asn747Ser)" "" "0000726545" "00000273" "30" "2240" "0" "2240" "0" "c.2240A>G" "r.(?)" "p.(Asn747Ser)" "" "0000726546" "00000271" "30" "1570" "0" "1570" "0" "c.1570T>G" "r.(?)" "p.(Tyr524Asp)" "" "0000726546" "00000273" "30" "1570" "0" "1570" "0" "c.1570T>G" "r.(?)" "p.(Tyr524Asp)" "" "0000808145" "00000271" "50" "2707" "0" "2707" "0" "c.2707G>A" "r.(?)" "p.(Asp903Asn)" "" "0000808145" "00000273" "50" "2707" "0" "2707" "0" "c.2707G>A" "r.(?)" "p.(Asp903Asn)" "" "0000808146" "00000271" "50" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Glu573Lys)" "" "0000808146" "00000273" "50" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Glu573Lys)" "" "0000808147" "00000271" "30" "1357" "0" "1357" "0" "c.1357T>A" "r.(?)" "p.(Leu453Met)" "" "0000808147" "00000273" "30" "1357" "0" "1357" "0" "c.1357T>A" "r.(?)" "p.(Leu453Met)" "" "0000831175" "00000271" "70" "164" "3" "164" "6" "c.164+3_164+6del" "r.(?)" "p.(?)" "" "0000865389" "00000271" "30" "2283" "0" "2283" "0" "c.2283C>G" "r.(?)" "p.(Pro761=)" "" "0000865389" "00000273" "30" "2283" "0" "2283" "0" "c.2283C>G" "r.(?)" "p.(Pro761=)" "" "0000865390" "00000271" "50" "1754" "-3" "1754" "-3" "c.1754-3C>T" "r.spl?" "p.?" "" "0000865390" "00000273" "50" "1754" "-3" "1754" "-3" "c.1754-3C>T" "r.spl?" "p.?" "" "0000894062" "00000271" "30" "1748" "0" "1748" "0" "c.1748C>A" "r.(?)" "p.(Pro583His)" "" "0000894062" "00000273" "30" "1748" "0" "1748" "0" "c.1748C>A" "r.(?)" "p.(Pro583His)" "" "0000894063" "00000271" "50" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Arg446Gln)" "" "0000894063" "00000273" "50" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Arg446Gln)" "" "0000903260" "00000271" "70" "164" "3" "164" "6" "c.164+3_164+6del" "r.(?)" "p.(?)" "" "0000905240" "00000273" "50" "2892" "-260" "2892" "-260" "c.2892-260del" "r.(?)" "p.(?)" "" "0000930833" "00000271" "30" "21456" "0" "21456" "0" "c.*18561G>A" "r.(=)" "p.(=)" "" "0000930833" "00000273" "30" "4997" "0" "4997" "0" "c.*2102G>A" "r.(=)" "p.(=)" "" "0000939865" "00000271" "70" "1153" "0" "1154" "0" "c.1153_1154insGACTTACTCGC" "r.(?)" "p.(Ala385GlyfsTer10)" "13" "0000950964" "00000271" "30" "2387" "-7" "2387" "-7" "c.2387-7T>C" "r.(=)" "p.(=)" "" "0000950964" "00000273" "30" "2387" "-7" "2387" "-7" "c.2387-7T>C" "r.(=)" "p.(=)" "" "0000969110" "00000271" "30" "2430" "0" "2430" "0" "c.2430C>T" "r.(?)" "p.(=)" "" "0000969110" "00000273" "30" "2430" "0" "2430" "0" "c.2430C>T" "r.(?)" "p.(=)" "" "0000982658" "00000271" "30" "2813" "-10" "2813" "-10" "c.2813-10T>G" "r.(=)" "p.(=)" "" "0000982658" "00000273" "30" "2813" "-10" "2813" "-10" "c.2813-10T>G" "r.(=)" "p.(=)" "" "0001022585" "00000271" "30" "219" "0" "219" "0" "c.219A>G" "r.(?)" "p.(Thr73=)" "" "0001042020" "00000271" "50" "2746" "0" "2746" "0" "c.2746G>A" "r.(?)" "p.(Glu916Lys)" "" "0001042020" "00000273" "50" "2746" "0" "2746" "0" "c.2746G>A" "r.(?)" "p.(Glu916Lys)" "" "0001042021" "00000271" "30" "1412" "0" "1412" "0" "c.1412G>A" "r.(?)" "p.(Arg471Gln)" "" "0001042021" "00000273" "30" "1412" "0" "1412" "0" "c.1412G>A" "r.(?)" "p.(Arg471Gln)" "" "0001042022" "00000271" "50" "821" "0" "821" "0" "c.821C>G" "r.(?)" "p.(Pro274Arg)" "" "0001042022" "00000273" "50" "821" "0" "821" "0" "c.821C>G" "r.(?)" "p.(Pro274Arg)" "" "0001042023" "00000271" "30" "124" "-9" "124" "-9" "c.124-9C>A" "r.(=)" "p.(=)" "" "0001042023" "00000273" "30" "124" "-9" "124" "-9" "c.124-9C>A" "r.(=)" "p.(=)" "" "0001042024" "00000271" "50" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Cys31Tyr)" "" "0001042024" "00000273" "50" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Cys31Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000303689" "0000624997" "0000303689" "0000624998" "0000303690" "0000624999" "0000303690" "0000667062" "0000303691" "0000667063" "0000303691" "0000667064" "0000303697" "0000016954" "0000303697" "0000667065" "0000303698" "0000624996" "0000303699" "0000667066" "0000303700" "0000624993" "0000441923" "0000939865"