### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MMP21) # 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}}" "MMP21" "matrix metallopeptidase 21" "10" "q26.3" "unknown" "NG_052815.1" "UD_132319397012" "" "https://www.LOVD.nl/MMP21" "" "1" "14357" "118856" "608416" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/MMP21_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-17 11:07:17" "00000" "2025-05-05 21:14:00" ## 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}}" "00013726" "MMP21" "matrix metallopeptidase 21" "001" "NM_147191.1" "" "NP_671724.1" "" "" "" "1" "1919" "1710" "127464390" "127455022" "" "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}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05128" "HTX" "heterotaxy, visceral (HTX, situs inversus/situs ambiguus)" "" "" "" "" "" "00006" "2016-01-31 12:35:57" "" "" "05733" "HTX7" "heterotaxy, visceral, autosomal, type 7 (HTX7)" "AR" "" "" "" "" "00006" "2020-04-27 09:48:09" "" "" "06071" "HTX7" "Heterotaxy, visceral, 7, autosomal" "AR" "616749" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MMP21" "05733" "MMP21" "06071" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00034442" "" "" "" "1" "" "01195" "" "registry CARREG at Necker Hospital, Paris, France, patient RECH003865" "M" "yes" "" ">05y" "0" "yes" "" "" "" "00034498" "" "" "" "1" "" "01195" "" "This patient has heterotaxy different from the ones in the diseases lists (another locus)\r\nThe neonate died at 1 day of life" "F" "no" "France" "00y00m01d" "0" "y" "" "European" "" "00034499" "" "" "" "1" "" "01195" "" "Heterotaxy not linked to any known gene yet" "M" "yes" "(France)" ">05y" "0" "yes" "" "North Africa" "" "00034500" "" "" "" "1" "" "01195" "" "" "M" "no" "France" "13y" "0" "yes" "" "carribean island" "" "00034501" "" "" "" "1" "" "01195" "" "Heterotaxy not linked to any known heterotaxy locus yet" "M" "yes" "Turkey" "?" "0" "yes" "" "Turkish" "" "00034502" "" "" "" "1" "" "01195" "" "" "M" "yes" "Turkey" "?" "0" "yes" "" "Turkish" "" "00034503" "" "" "" "1" "" "01195" "" "heterotaxy not linked to any known heterotaxy locus yet" "F" "yes" "Turkey" "?" "0" "" "" "Turkish" "" "00034504" "" "" "" "1" "" "01195" "" "" "M" "yes" "Algeria" ">15y" "0" "yes" "" "North Africa" "" "00043813" "" "" "" "264" "" "01195" "" "" "F" "no" "Germany" ">33y" "0" "" "" "European" "" "00043822" "" "" "" "1" "" "01195" "" "" "M" "no" "(United States)" "?" "0" "" "" "Hispanic" "" "00050476" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00300280" "" "" "" "1" "" "01195" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "F" "no" "France" "00y" "0" "" "" "" "Pt7435" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00034442" "00152" "00034498" "00152" "00034499" "00152" "00034500" "00152" "00034501" "00152" "00034502" "00152" "00034503" "00152" "00034504" "00152" "00043813" "00152" "00043822" "00152" "00050476" "00198" "00300280" "00152" "00300280" "05128" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 05128, 05733, 06071 ## Count = 12 "{{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}}" "0000027838" "00152" "00034442" "01195" "Familial, autosomal recessive" "" "" "00y01m" "" "" "" "" "" "" "" "" "" "" "0000027902" "00152" "00034499" "01195" "Familial, autosomal recessive" "" "interrupted inferior vena cava with azygous continuation, common atrium, common atrium, complete atrioventricular septal defect, transposition of the great arteries, pulmonary stenosis, peripheral pulmonary stenosis, intestinal malrotation, polysplenia" "00y01m" "" "" "" "" "" "" "" "" "" "" "0000027903" "00152" "00034500" "01195" "Familial, autosomal recessive" "" "Bilateral superior vena with bridging vein, interrupted inferior vena cava with azygos continuation, hepatic veins to bilateral atriums, mitral atresia, single ventricle\r\nLeft pulmonary isomerism, left sided liver, right-sided stomach, polysplenia." "" "" "" "" "" "" "" "" "" "" "" "0000027904" "00152" "00034501" "01195" "Familial, autosomal recessive" "" "Commun atrium, complete atrioventricular canal defect, dextrocardia\r\nAbnormality of abdominal situs" "" "" "" "" "" "" "" "" "" "" "" "0000027905" "00152" "00034502" "01195" "Familial, autosomal recessive" "" "Common atrium, complete atrioventricular canal defect, transposition of the great arteries with ventricular septal defect\r\nintestinal malrotation, midline liver" "" "" "" "" "" "" "" "" "" "" "" "0000027906" "00152" "00034503" "01195" "Familial, autosomal recessive" "" "Congenitally corrected transposition of the great arteries with ventricular septal defect, pulmonic stenosis\r\nAbnormal abdominal situs" "" "" "" "" "" "" "" "" "" "" "" "0000027907" "00152" "00034504" "01195" "Familial, autosomal recessive" "" "Interrupted inferior vena cava with azygous continuation, partial anomalous pulmonary venous return, patent foramen ovale, inlet ventricular septal defect, perimembranous ventricular septal defect\r\nAbnormality of abdominal situs" "" "" "" "" "" "" "" "" "" "" "" "0000027910" "00152" "00034498" "01195" "Familial, autosomal recessive" "00y00m01d" "Interrupted inferior vena cava with azygous continuation, Partial anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Partial atrioventricular canal defect, Hypoplastic\r\nleft heart, dextrocardia" "" "" "" "" "" "" "" "" "" "" "" "0000034051" "00152" "00043813" "01195" "Familial, autosomal recessive" "" "common atrium, dextrocardia" "" "" "" "" "" "" "" "" "" "" "" "0000034052" "00152" "00043822" "01195" "Familial, autosomal recessive" "" "interrupted vena cava with azygous continuation, transposition of the great arteries, double outlet right ventricle, valvar pulmonary stenosis, dextrocardia" "" "" "" "" "" "" "" "" "" "" "" "0000037088" "00198" "00050476" "00006" "Unknown" "" "clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth" "" "" "" "" "" "" "" "" "" "" "" "0000227584" "05128" "00300280" "01195" "Familial, autosomal recessive" "00y" "Common atrium, mitral atresia, hypoplastic left ventricle, Ventricular Septal Defect, right pulmonary isomerism, intestinal malrotation" "00y" "00y" "00y" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000034509" "00034442" "1" "01195" "01195" "2015-03-19 09:57:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034569" "00034498" "1" "01195" "01195" "2015-03-20 18:09:38" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" "0000034570" "00034499" "1" "01195" "01195" "2015-03-20 18:38:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034571" "00034500" "1" "01195" "01195" "2015-03-20 18:55:56" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "" "0000034572" "00034501" "1" "01195" "01195" "2015-03-20 19:07:45" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "" "0000034573" "00034502" "1" "01195" "01195" "2015-03-20 19:15:09" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "" "0000034574" "00034503" "1" "01195" "01195" "2015-03-20 19:22:44" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "" "0000034575" "00034504" "1" "01195" "01195" "2015-03-20 19:34:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000044058" "00043813" "1" "01195" "01195" "2015-06-23 12:40:22" "" "" "SEQ-NG" "DNA" "Blood" "" "0000044068" "00043822" "1" "01195" "01195" "2015-06-23 13:10:59" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000050421" "00050476" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000301398" "00300280" "1" "01195" "01195" "2020-04-26 15:22:02" "" "" "SEQ;SEQ-NG-I" "DNA" "Liver" "Panel of 478 genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000034509" "MMP21" "0000034569" "MMP21" "0000034570" "MMP21" "0000034571" "MMP21" "0000034572" "MMP21" "0000034573" "MMP21" "0000034574" "MMP21" "0000034575" "MMP21" "0000044058" "CHRNB3" "0000044058" "MMP21" "0000044058" "SMAD6" ## 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 = 74 "{{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}}" "0000061602" "3" "70" "10" "127464390" "127464390" "subst" "8.49654E-6" "01195" "MMP21_000002" "g.127464390T>C" "1/264 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.125775821T>C" "" "likely pathogenic" "" "0000061660" "11" "90" "10" "127462420" "127462420" "subst" "1.03523E-5" "01195" "MMP21_000003" "g.127462420A>G" "1/264 patients" "" "" "" "tested on CRISP/Cas9 mouse embryos: pathogenic" "Germline" "yes" "" "0" "" "" "g.125773851A>G" "" "pathogenic" "" "0000061661" "21" "70" "10" "127458937" "127458937" "subst" "9.7458E-5" "01195" "MMP21_000009" "g.127458937C>T" "1/264 patients" "" "" "" "" "Germline" "yes" "rs137955225" "0" "" "" "g.125770368C>T" "" "likely pathogenic" "" "0000061662" "3" "70" "10" "127464390" "127464390" "subst" "8.49654E-6" "01195" "MMP21_000002" "g.127464390T>C" "1/264 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.125775821T>C" "" "likely pathogenic" "" "0000061663" "10" "70" "10" "127464300" "127464300" "subst" "8.1688E-6" "01195" "MMP21_000005" "g.127464300G>A" "1/264 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.125775731G>A" "" "likely pathogenic" "" "0000061664" "0" "70" "10" "127462454" "127462454" "subst" "8.34536E-5" "01195" "MMP21_000004" "g.127462454C>T" "1/264 patients" "" "" "" "" "Germline" "yes" "rs145789868" "0" "" "" "g.125773885C>T" "" "likely pathogenic" "" "0000061665" "3" "70" "10" "127462789" "127462790" "del" "0" "01195" "MMP21_000006" "g.127462789_127462790del" "1/264 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.125774220_125774221del" "" "likely pathogenic" "" "0000061666" "3" "70" "10" "127460805" "127460805" "subst" "4.06118E-6" "01195" "MMP21_000007" "g.127460805C>G" "1/264 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.125772236C>G" "" "likely pathogenic" "" "0000061667" "3" "70" "10" "127459062" "127459062" "subst" "1.21819E-5" "01195" "MMP21_000008" "g.127459062G>A" "1/264 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.125770493G>A" "" "likely pathogenic" "" "0000061668" "3" "70" "10" "127459016" "127459016" "subst" "0" "01195" "MMP21_000001" "g.127459016C>T" "1/264 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.125770447C>T" "" "likely pathogenic" "" "0000071866" "21" "70" "10" "127458918" "127458918" "subst" "4.06233E-6" "01195" "MMP21_000011" "g.127458918G>C" "1/264 patients" "" "" "" "" "Germline" "yes" "rs150320323" "0" "" "" "g.125770349G>C" "" "likely pathogenic" "" "0000071869" "11" "70" "10" "127455355" "127455358" "dup" "0" "01195" "MMP21_000012" "g.127455355_127455358dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.125766786_125766789dup" "" "likely pathogenic" "" "0000071882" "11" "70" "10" "127462732" "127462732" "del" "0" "01195" "MMP21_000010" "g.127462732del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.125774163del" "" "likely pathogenic" "" "0000071883" "21" "70" "10" "127460915" "127466819" "del" "0" "01195" "MMP21_000013" "g.127460915_127466819del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.125772346_125778250del" "" "likely pathogenic" "" "0000079401" "0" "90" "10" "123150811" "135380935" "dup" "0" "00006" "ACADSB_000015" "g.123150811_135380935dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000255353" "0" "70" "10" "127460905" "127460905" "subst" "0" "01943" "MMP21_000022" "g.127460905A>C" "" "" "" "MMP21(NM_147191.1):c.861T>G (p.H287Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125772336A>C" "" "likely pathogenic" "" "0000321810" "0" "30" "10" "127459094" "127459094" "subst" "0.00302122" "01804" "MMP21_000017" "g.127459094T>C" "" "" "" "MMP21(NM_147191.1):c.1046A>G (p.E349G, p.(Glu349Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125770525T>C" "" "likely benign" "" "0000321811" "0" "50" "10" "127462646" "127462646" "subst" "0.000511902" "01804" "MMP21_000018" "g.127462646A>G" "" "" "" "MMP21(NM_147191.1):c.451T>C (p.(Ser151Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125774077A>G" "" "VUS" "" "0000321812" "0" "50" "10" "127462768" "127462768" "subst" "0" "01804" "MMP21_000019" "g.127462768G>A" "" "" "" "MMP21(NM_147191.1):c.329C>T (p.(Ala110Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125774199G>A" "" "VUS" "" "0000321813" "0" "50" "10" "127462807" "127462807" "subst" "0.0010506" "01804" "MMP21_000020" "g.127462807G>A" "" "" "" "MMP21(NM_147191.1):c.290C>T (p.A97V, p.(Ala97Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125774238G>A" "" "VUS" "" "0000321815" "0" "50" "10" "127462855" "127462855" "subst" "0" "01804" "MMP21_000021" "g.127462855T>C" "" "" "" "MMP21(NM_147191.1):c.242A>G (p.(Lys81Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125774286T>C" "" "VUS" "" "0000539484" "0" "70" "10" "127456139" "127456139" "subst" "0.000158529" "01804" "C10orf137_000002" "g.127456139G>A" "" "" "" "MMP21(NM_147191.1):c.1372C>T (p.(Arg458Ter), p.R458*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125767570G>A" "" "likely pathogenic" "" "0000539485" "0" "10" "10" "127456150" "127456150" "subst" "0.00661065" "02327" "C10orf137_000003" "g.127456150G>A" "" "" "" "MMP21(NM_147191.1):c.1361C>T (p.(Ala454Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125767581G>A" "" "benign" "" "0000539486" "0" "90" "10" "127458937" "127458937" "subst" "9.7458E-5" "02329" "MMP21_000009" "g.127458937C>T" "" "" "" "MMP21(NM_147191.1):c.1203G>A (p.(Trp401Ter), p.W401*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125770368C>T" "" "pathogenic" "" "0000539487" "0" "50" "10" "127458977" "127458977" "subst" "0" "02325" "MMP21_000023" "g.127458977C>G" "" "" "" "MMP21(NM_147191.1):c.1163G>C (p.G388A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125770408C>G" "" "VUS" "" "0000539488" "0" "10" "10" "127460952" "127460952" "subst" "0.294761" "02327" "MMP21_000024" "g.127460952G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125772383G>T" "" "benign" "" "0000539489" "0" "50" "10" "127461227" "127461227" "subst" "1.21826E-5" "02327" "MMP21_000025" "g.127461227C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125772658C>T" "" "VUS" "" "0000539491" "0" "10" "10" "127462833" "127462833" "subst" "0.285308" "02327" "MMP21_000026" "g.127462833C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125774264C>T" "" "benign" "" "0000539492" "0" "30" "10" "127462934" "127462934" "subst" "0.0311211" "01804" "MMP21_000027" "g.127462934G>A" "" "" "" "MMP21(NM_147191.1):c.163C>T (p.(Arg55Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125774365G>A" "" "likely benign" "" "0000539493" "0" "30" "10" "127464252" "127464252" "subst" "0" "01804" "MMP21_000028" "g.127464252T>C" "" "" "" "MMP21(NM_147191.1):c.139A>G (p.(Ile47Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125775683T>C" "" "likely benign" "" "0000612357" "0" "30" "10" "127459094" "127459094" "subst" "0.00302122" "02326" "MMP21_000017" "g.127459094T>C" "" "" "" "MMP21(NM_147191.1):c.1046A>G (p.E349G, p.(Glu349Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125770525T>C" "" "likely benign" "" "0000612358" "0" "30" "10" "127460834" "127460834" "subst" "8.1215E-6" "02327" "MMP21_000030" "g.127460834G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125772265G>A" "" "likely benign" "" "0000612359" "0" "50" "10" "127462454" "127462454" "subst" "8.34536E-5" "02327" "MMP21_000004" "g.127462454C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125773885C>T" "" "VUS" "" "0000612360" "0" "30" "10" "127462807" "127462807" "subst" "0.0010506" "02327" "MMP21_000020" "g.127462807G>A" "" "" "" "MMP21(NM_147191.1):c.290C>T (p.A97V, p.(Ala97Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125774238G>A" "" "likely benign" "" "0000622355" "0" "90" "10" "127456139" "127456139" "subst" "0.000158529" "02325" "C10orf137_000002" "g.127456139G>A" "" "" "" "MMP21(NM_147191.1):c.1372C>T (p.(Arg458Ter), p.R458*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125767570G>A" "" "pathogenic" "" "0000656445" "0" "30" "10" "127462659" "127462659" "subst" "0" "02326" "MMP21_000031" "g.127462659C>G" "" "" "" "MMP21(NM_147191.1):c.438G>C (p.P146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125774090C>G" "" "likely benign" "" "0000656446" "0" "10" "10" "127462710" "127462710" "subst" "0.00387597" "02326" "MMP21_000032" "g.127462710G>T" "" "" "" "MMP21(NM_147191.1):c.387C>A (p.A129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125774141G>T" "" "benign" "" "0000656447" "0" "30" "10" "127462797" "127462797" "subst" "0" "01943" "MMP21_000033" "g.127462797G>A" "" "" "" "MMP21(NM_147191.1):c.300C>T (p.A100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125774228G>A" "" "likely benign" "" "0000664329" "1" "70" "10" "127462912" "127462912" "del" "0" "01195" "MMP21_000034" "g.127462912del" "" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "" "Germline" "?" "" "" "" "" "g.125774343del" "" "pathogenic" "" "0000664330" "0" "70" "10" "127462454" "127462454" "subst" "8.34536E-5" "01195" "MMP21_000004" "g.127462454C>T" "1/80 patients" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "" "Germline" "?" "rs145789868" "" "" "" "g.125773885C>T" "" "pathogenic" "" "0000678800" "0" "30" "10" "127461264" "127461264" "subst" "0.000292445" "02326" "MMP21_000035" "g.127461264G>A" "" "" "" "MMP21(NM_147191.1):c.753C>T (p.H251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678801" "0" "30" "10" "127462390" "127462390" "subst" "0.00306558" "01943" "MMP21_000036" "g.127462390G>C" "" "" "" "MMP21(NM_147191.1):c.697+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690672" "0" "50" "10" "127455397" "127455397" "subst" "4.06293E-5" "02325" "C10orf137_000005" "g.127455397T>C" "" "" "" "MMP21(NM_147191.1):c.1544A>G (p.Y515C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690673" "0" "50" "10" "127461299" "127461299" "subst" "2.84835E-5" "02325" "MMP21_000037" "g.127461299G>A" "" "" "" "MMP21(NM_147191.1):c.718C>T (p.R240W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690674" "0" "90" "10" "127462702" "127462702" "subst" "0" "01943" "MMP21_000038" "g.127462702G>T" "" "" "" "MMP21(NM_147191.1):c.395C>A (p.S132*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690675" "0" "30" "10" "127462807" "127462807" "subst" "0.0010506" "01943" "MMP21_000020" "g.127462807G>A" "" "" "" "MMP21(NM_147191.1):c.290C>T (p.A97V, p.(Ala97Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722732" "0" "30" "10" "127458940" "127458940" "subst" "0.000641614" "01943" "MMP21_000039" "g.127458940G>A" "" "" "" "MMP21(NM_147191.1):c.1200C>T (p.I400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722733" "0" "50" "10" "127460838" "127460838" "subst" "0" "01943" "MMP21_000040" "g.127460838G>C" "" "" "" "MMP21(NM_147191.1):c.928C>G (p.P310A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722734" "0" "30" "10" "127461291" "127461291" "subst" "1.62653E-5" "02326" "MMP21_000041" "g.127461291G>A" "" "" "" "MMP21(NM_147191.1):c.726C>T (p.F242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722735" "0" "30" "10" "127462880" "127462880" "subst" "0" "01943" "MMP21_000042" "g.127462880G>A" "" "" "" "MMP21(NM_147191.1):c.217C>T (p.P73S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804341" "0" "30" "10" "127462807" "127462807" "subst" "0.0010506" "02326" "MMP21_000020" "g.127462807G>A" "" "" "" "MMP21(NM_147191.1):c.290C>T (p.A97V, p.(Ala97Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852433" "0" "90" "10" "127456139" "127456139" "subst" "0.000158529" "02326" "C10orf137_000002" "g.127456139G>A" "" "" "" "MMP21(NM_147191.1):c.1372C>T (p.(Arg458Ter), p.R458*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852434" "0" "30" "10" "127459094" "127459094" "subst" "0.00302122" "01943" "MMP21_000017" "g.127459094T>C" "" "" "" "MMP21(NM_147191.1):c.1046A>G (p.E349G, p.(Glu349Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852435" "0" "30" "10" "127459133" "127459133" "subst" "0.000211276" "01943" "MMP21_000043" "g.127459133G>A" "" "" "" "MMP21(NM_147191.1):c.1007C>T (p.A336V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852436" "0" "90" "10" "127462732" "127462732" "del" "0" "02326" "MMP21_000010" "g.127462732del" "" "" "" "MMP21(NM_147191.1):c.365delT (p.(Met122fs)), MMP21(NM_147191.1):c.365delT (p.M122Sfs*55)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861854" "0" "10" "10" "127456130" "127456130" "subst" "0.0014636" "02326" "MMP21_000015" "g.127456130T>C" "" "" "" "MMP21(NM_147191.1):c.1381A>G (p.K461E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861855" "0" "30" "10" "127462897" "127462897" "subst" "0" "01943" "MMP21_000044" "g.127462897G>T" "" "" "" "MMP21(NM_147191.1):c.200C>A (p.A67E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949364" "0" "50" "10" "127458937" "127458937" "subst" "9.7458E-5" "02327" "MMP21_000009" "g.127458937C>T" "" "" "" "MMP21(NM_147191.1):c.1203G>A (p.(Trp401Ter), p.W401*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949365" "0" "50" "10" "127464230" "127464230" "subst" "0" "02325" "MMP21_000045" "g.127464230T>C" "" "" "" "MMP21(NM_147191.1):c.161A>G (p.Q54R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965659" "0" "10" "10" "127462390" "127462390" "subst" "0.00306558" "02326" "MMP21_000036" "g.127462390G>C" "" "" "" "MMP21(NM_147191.1):c.697+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978938" "0" "30" "10" "127456150" "127456150" "subst" "0.00661065" "01804" "C10orf137_000003" "g.127456150G>A" "" "" "" "MMP21(NM_147191.1):c.1361C>T (p.(Ala454Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978939" "0" "70" "10" "127458937" "127458937" "subst" "9.7458E-5" "01804" "MMP21_000009" "g.127458937C>T" "" "" "" "MMP21(NM_147191.1):c.1203G>A (p.(Trp401Ter), p.W401*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998191" "0" "50" "10" "127459062" "127459062" "subst" "1.21819E-5" "01804" "MMP21_000008" "g.127459062G>A" "" "" "" "MMP21(NM_147191.1):c.1078C>T (p.(Arg360Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998192" "0" "50" "10" "127462412" "127462412" "subst" "0" "01804" "MMP21_000046" "g.127462412C>G" "" "" "" "MMP21(NM_147191.1):c.685G>C (p.(Gly229Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998193" "0" "50" "10" "127462732" "127462732" "del" "0" "01804" "MMP21_000010" "g.127462732del" "" "" "" "MMP21(NM_147191.1):c.365delT (p.(Met122fs)), MMP21(NM_147191.1):c.365delT (p.M122Sfs*55)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037783" "0" "50" "10" "127456240" "127456240" "subst" "4.06223E-6" "01804" "C10orf137_000010" "g.127456240T>A" "" "" "" "MMP21(NM_147191.1):c.1271A>T (p.(Asp424Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037784" "0" "70" "10" "127458937" "127458937" "subst" "9.7458E-5" "02326" "MMP21_000009" "g.127458937C>T" "" "" "" "MMP21(NM_147191.1):c.1203G>A (p.(Trp401Ter), p.W401*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037785" "0" "30" "10" "127460791" "127460791" "subst" "6.09266E-5" "01804" "MMP21_000047" "g.127460791C>T" "" "" "" "MMP21(NM_147191.1):c.975G>A (p.(Leu325=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037786" "0" "50" "10" "127461185" "127461185" "subst" "0.000174615" "01804" "MMP21_000048" "g.127461185G>C" "" "" "" "MMP21(NM_147191.1):c.832C>G (p.(Leu278Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037787" "0" "30" "10" "127461331" "127461331" "dup" "0" "01804" "MMP21_000049" "g.127461331dup" "" "" "" "MMP21(NM_147191.1):c.698-8dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037788" "0" "50" "10" "127462481" "127462481" "subst" "0" "01804" "MMP21_000050" "g.127462481T>C" "" "" "" "MMP21(NM_147191.1):c.616A>G (p.(Ser206Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037789" "0" "10" "10" "127462525" "127462525" "subst" "0.760518" "02326" "MMP21_000051" "g.127462525A>G" "" "" "" "MMP21(NM_147191.1):c.572T>C (p.V191A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037790" "0" "30" "10" "127462611" "127462611" "subst" "0.014714" "01804" "MMP21_000052" "g.127462611G>A" "" "" "" "MMP21(NM_147191.1):c.486C>T (p.(Tyr162=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037791" "0" "50" "10" "127462801" "127462801" "subst" "4.57582E-5" "01804" "MMP21_000053" "g.127462801G>C" "" "" "" "MMP21(NM_147191.1):c.296C>G (p.(Pro99Arg))" "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 MMP21 ## Count = 74 "{{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}}" "0000061602" "00013726" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "0000061660" "00013726" "90" "677" "0" "677" "0" "c.677T>C" "r.(?)" "p.(Ile226Thr)" "" "0000061661" "00013726" "70" "1203" "0" "1203" "0" "c.1203G>A" "r.(?)" "p.(Trp401*)" "5" "0000061662" "00013726" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "0000061663" "00013726" "70" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Trp)" "1" "0000061664" "00013726" "70" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Glu215Lys)" "2" "0000061665" "00013726" "70" "308" "0" "309" "0" "c.308_309del" "r.(?)" "p.(Glu103Alafs*154)" "2" "0000061666" "00013726" "90" "961" "0" "961" "0" "c.961G>C" "r.(?)" "p.(Ala321Pro)" "4" "0000061667" "00013726" "70" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360Cys)" "5" "0000061668" "00013726" "70" "1124" "0" "1124" "0" "c.1124G>A" "r.(?)" "p.(Arg375His)" "5" "0000071866" "00013726" "70" "1222" "0" "1222" "0" "c.1222C>G" "r.(?)" "p.(Arg408Gly)" "5" "0000071869" "00013726" "70" "1585" "0" "1588" "0" "c.1585_1588dup" "r.(?)" "p.(Val530Glyfs*3)" "7" "0000071882" "00013726" "70" "365" "0" "365" "0" "c.365del" "r.(?)" "p.(Met122Serfs*55)" "2" "0000071883" "00013726" "70" "-2429" "0" "851" "0" "c.-2429_851del" "r.0?" "p.0?" "_1_4" "0000079401" "00013726" "00" "-7916545" "0" "4306130" "0" "c.-7916545_*4304420dup" "" "" "" "0000255353" "00013726" "70" "861" "0" "861" "0" "c.861T>G" "r.(?)" "p.(His287Gln)" "" "0000321810" "00013726" "30" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Glu349Gly)" "" "0000321811" "00013726" "50" "451" "0" "451" "0" "c.451T>C" "r.(?)" "p.(Ser151Pro)" "" "0000321812" "00013726" "50" "329" "0" "329" "0" "c.329C>T" "r.(?)" "p.(Ala110Val)" "" "0000321813" "00013726" "50" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" "" "0000321815" "00013726" "50" "242" "0" "242" "0" "c.242A>G" "r.(?)" "p.(Lys81Arg)" "" "0000539484" "00013726" "70" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Arg458Ter)" "" "0000539485" "00013726" "10" "1361" "0" "1361" "0" "c.1361C>T" "r.(?)" "p.(Ala454Val)" "" "0000539486" "00013726" "90" "1203" "0" "1203" "0" "c.1203G>A" "r.(?)" "p.(Trp401Ter)" "" "0000539487" "00013726" "50" "1163" "0" "1163" "0" "c.1163G>C" "r.(?)" "p.(Gly388Ala)" "" "0000539488" "00013726" "10" "838" "-24" "838" "-24" "c.838-24C>A" "r.(=)" "p.(=)" "" "0000539489" "00013726" "50" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Glu264Lys)" "" "0000539491" "00013726" "10" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Ala88=)" "" "0000539492" "00013726" "30" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Arg55Trp)" "" "0000539493" "00013726" "30" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Ile47Val)" "" "0000612357" "00013726" "30" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Glu349Gly)" "" "0000612358" "00013726" "30" "932" "0" "932" "0" "c.932C>T" "r.(?)" "p.(Ala311Val)" "" "0000612359" "00013726" "50" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Glu215Lys)" "" "0000612360" "00013726" "30" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" "" "0000622355" "00013726" "90" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Arg458Ter)" "" "0000656445" "00013726" "30" "438" "0" "438" "0" "c.438G>C" "r.(?)" "p.(Pro146=)" "" "0000656446" "00013726" "10" "387" "0" "387" "0" "c.387C>A" "r.(?)" "p.(Ala129=)" "" "0000656447" "00013726" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(Ala100=)" "" "0000664329" "00013726" "70" "186" "0" "186" "0" "c.186del" "r.(186del)" "p.(Trp62Cysfs*48)" "2" "0000664330" "00013726" "70" "643" "0" "643" "0" "c.643G>A" "r.(643g>a)" "p.Glu215Lys)" "2" "0000678800" "00013726" "30" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(His251=)" "" "0000678801" "00013726" "30" "697" "10" "697" "10" "c.697+10C>G" "r.(=)" "p.(=)" "" "0000690672" "00013726" "50" "1544" "0" "1544" "0" "c.1544A>G" "r.(?)" "p.(Tyr515Cys)" "" "0000690673" "00013726" "50" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Trp)" "" "0000690674" "00013726" "90" "395" "0" "395" "0" "c.395C>A" "r.(?)" "p.(Ser132Ter)" "" "0000690675" "00013726" "30" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" "" "0000722732" "00013726" "30" "1200" "0" "1200" "0" "c.1200C>T" "r.(?)" "p.(Ile400=)" "" "0000722733" "00013726" "50" "928" "0" "928" "0" "c.928C>G" "r.(?)" "p.(Pro310Ala)" "" "0000722734" "00013726" "30" "726" "0" "726" "0" "c.726C>T" "r.(?)" "p.(Phe242=)" "" "0000722735" "00013726" "30" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Pro73Ser)" "" "0000804341" "00013726" "30" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" "" "0000852433" "00013726" "90" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Arg458Ter)" "" "0000852434" "00013726" "30" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Glu349Gly)" "" "0000852435" "00013726" "30" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Ala336Val)" "" "0000852436" "00013726" "90" "365" "0" "365" "0" "c.365del" "r.(?)" "p.(Met122Serfs*55)" "" "0000861854" "00013726" "10" "1381" "0" "1381" "0" "c.1381A>G" "r.(?)" "p.(Lys461Glu)" "" "0000861855" "00013726" "30" "200" "0" "200" "0" "c.200C>A" "r.(?)" "p.(Ala67Glu)" "" "0000949364" "00013726" "50" "1203" "0" "1203" "0" "c.1203G>A" "r.(?)" "p.(Trp401Ter)" "" "0000949365" "00013726" "50" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Gln54Arg)" "" "0000965659" "00013726" "10" "697" "10" "697" "10" "c.697+10C>G" "r.(=)" "p.(=)" "" "0000978938" "00013726" "30" "1361" "0" "1361" "0" "c.1361C>T" "r.(?)" "p.(Ala454Val)" "" "0000978939" "00013726" "70" "1203" "0" "1203" "0" "c.1203G>A" "r.(?)" "p.(Trp401Ter)" "" "0000998191" "00013726" "50" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360Cys)" "" "0000998192" "00013726" "50" "685" "0" "685" "0" "c.685G>C" "r.(?)" "p.(Gly229Arg)" "" "0000998193" "00013726" "50" "365" "0" "365" "0" "c.365del" "r.(?)" "p.(Met122Serfs*55)" "" "0001037783" "00013726" "50" "1271" "0" "1271" "0" "c.1271A>T" "r.(?)" "p.(Asp424Val)" "" "0001037784" "00013726" "70" "1203" "0" "1203" "0" "c.1203G>A" "r.(?)" "p.(Trp401Ter)" "" "0001037785" "00013726" "30" "975" "0" "975" "0" "c.975G>A" "r.(?)" "p.(Leu325=)" "" "0001037786" "00013726" "50" "832" "0" "832" "0" "c.832C>G" "r.(?)" "p.(Leu278Val)" "" "0001037787" "00013726" "30" "698" "-8" "698" "-8" "c.698-8dup" "r.(=)" "p.(=)" "" "0001037788" "00013726" "50" "616" "0" "616" "0" "c.616A>G" "r.(?)" "p.(Ser206Gly)" "" "0001037789" "00013726" "10" "572" "0" "572" "0" "c.572T>C" "r.(?)" "p.(Val191Ala)" "" "0001037790" "00013726" "30" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(Tyr162=)" "" "0001037791" "00013726" "50" "296" "0" "296" "0" "c.296C>G" "r.(?)" "p.(Pro99Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000034509" "0000061602" "0000034569" "0000061660" "0000034569" "0000061661" "0000034570" "0000061662" "0000034571" "0000061663" "0000034571" "0000061664" "0000034572" "0000061665" "0000034573" "0000061666" "0000034574" "0000061667" "0000034575" "0000061668" "0000044058" "0000071866" "0000044058" "0000071869" "0000044068" "0000071882" "0000044068" "0000071883" "0000050421" "0000079401" "0000301398" "0000664329" "0000301398" "0000664330"