### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MMP20) # 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}}" "MMP20" "matrix metallopeptidase 20" "11" "q22.3" "unknown" "NG_012151.1" "UD_132085345128" "" "https://www.LOVD.nl/MMP20" "" "1" "7167" "9313" "604629" "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/MMP20_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-03-05 09:14:24" "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}}" "00013725" "MMP20" "matrix metallopeptidase 20" "001" "NM_004771.3" "" "NP_004762.2" "" "" "" "-13" "1943" "1452" "102496063" "102447566" "" "0000-00-00 00:00:00" "" "" ## 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" "03148" "AI2A2" "amelogenesis imperfecta, hypomaturation type, IIA2 (AI2A2)" "AR" "612529" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05650" "AI" "amelogenesis imperfecta (AI)" "" "" "" "" "" "00006" "2019-09-11 22:21:30" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MMP20" "03148" "MMP20" "05650" ## Individuals ## Do not remove or alter this header ## ## Count = 36 "{{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}}" "00290200" "" "" "" "182" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290201" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304278" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00335344" "" "" "" "1" "" "00000" "{PMID:Nikolopoulos 2021:33600052}" "family, 1 affected" "" "" "Costa Rica" "" "0" "" "" "" "Fam1" "00335345" "" "" "" "1" "" "00000" "{PMID:Nikolopoulos 2021:33600052}" "family, 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2" "00335346" "" "" "" "3" "" "00000" "{PMID:Nikolopoulos 2021:33600052}" "family, 3 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam3" "00335347" "" "" "" "1" "" "00000" "{PMID:Nikolopoulos 2021:33600052}" "family, 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam4" "00335348" "" "" "" "1" "" "00000" "{PMID:Nikolopoulos 2021:33600052}" "family, 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam5" "00335349" "" "" "" "3" "" "00000" "{PMID:Nikolopoulos 2021:33600052}" "family, 3 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam6" "00335350" "" "" "" "2" "" "00000" "{PMID:Nikolopoulos 2021:33600052}" "family, 2 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam7" "00335351" "" "" "" "2" "" "00000" "{PMID:Nikolopoulos 2021:33600052}" "family, 2 affected" "" "" "Oman" "" "0" "" "" "" "Fam8" "00335352" "" "" "" "1" "" "00000" "{PMID:Nikolopoulos 2021:33600052}" "family, 1 affected" "" "" "Oman" "" "0" "" "" "" "Fam9" "00335353" "" "" "" "1" "" "00000" "{PMID:Nikolopoulos 2021:33600052}" "family, 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam10" "00335354" "" "" "" "1" "" "00000" "{PMID:Papagerakis 2008:18096894}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "United States" "" "0" "" "" "" "FamPatIII2" "00335355" "" "" "" "1" "" "00000" "{PMID:Prasad 2016:26502894}, {PMID:Gasse 2017:28659819}" "" "M" "" "France" "" "0" "" "" "" "V2.13;Pat3" "00335356" "" "" "" "1" "" "00000" "{PMID:Kim 2020:31999931}" "3-generation family, 1 affected, unaffected parents" "M" "no" "Turkey" "" "0" "" "" "" "Fam2" "00335357" "" "" "" "1" "" "00000" "{PMID:Prasad 2016:26502894}" "" "M" "" "France" "" "0" "" "" "" "V2.07" "00335358" "" "" "" "1" "" "00000" "{PMID:Gasse 2017:28659819}" "2-generation family, 1 affected" "M" "" "France" "" "0" "" "" "" "Pat1" "00335359" "" "" "" "1" "" "00000" "{PMID:Gasse 2013:23625376}" "2-generation family, 1 affected" "F" "no" "France" "" "0" "" "" "" "Pat2" "00335360" "" "" "" "1" "" "00000" "{PMID:Gasse 2013:23625376}" "2-generation family, 1 affected" "F" "yes" "France" "" "0" "" "" "" "Pat1" "00335361" "" "" "" "1" "" "00000" "{PMID:Kim 2017:28473773}" "3-generation family, 1 affected" "F" "no" "" "" "0" "" "" "" "Fam2" "00335362" "" "" "" "1" "" "00000" "{PMID:Gasse 2017:28659819}" "" "M" "no" "France" "" "0" "" "" "" "Pat4" "00335363" "" "" "" "1" "" "00000" "{PMID:Wang 2013:23355523}" "3-generation family, 1 affected" "M" "" "United States" "" "0" "" "" "" "Fam2" "00335364" "" "" "" "6" "" "00000" "{PMID:Kim 2020:31999931}" "3-generation family, mixed phenotype, 6 affected; affectedsister/brother" "F;M" "yes" "Turkey" "" "0" "" "" "" "Fam1" "00335365" "" "" "" "2" "" "00000" "{PMID:Ozdemir 2005:16246936}" "4-generation family, affected brother/sister" "F;M" "yes" "Turkey" "" "0" "" "" "" "family" "00335366" "" "" "" "1" "" "00000" "{PMID:Wright 2011:21597265}" "" "" "" "United States" "" "0" "" "" "" "patient" "00335367" "" "" "" "1" "" "00000" "{PMID:Kim 2017:28473773}" "4-generation family, affected brother/sister" "F;M" "yes" "" "" "0" "" "" "" "Fam1" "00335368" "" "" "" "2" "" "00000" "{PMID:Lee 2010:19966041}" "4-generation family, 2 affected brothers" "M" "yes" "Korea" "" "0" "" "" "" "family" "00335369" "" "" "" "1" "" "00000" "{PMID:Gasse 2017:28659819}" "2-generation family, 1 affected" "F" "" "France" "" "0" "" "" "" "Pat2" "00335370" "" "" "" "2" "" "00000" "{PMID:Kim 2005:15744043}" "3-generation family, affected father/son" "M" "" "United States" "" "0" "" "" "" "family" "00335371" "" "" "" "1" "" "00000" "{PMID:Wright 2011:21597265}" "" "" "" "United States" "" "0" "" "" "" "patient" "00335373" "" "" "" "2" "" "00000" "{PMID:Seymen 2015:26124219}" "5-generation family, 2 affected sisters" "F" "yes" "Turkey" "" "0" "" "" "" "Fam2" "00335374" "" "" "" "1" "" "00000" "{PMID:Kim 2020:31999931}" "3-generation family, 1 affected, unaffected parents" "M" "no" "Turkey" "" "0" "" "" "" "Fam3" "00335375" "" "" "" "2" "" "00000" "{PMID:Gasse 2017:28659819}" "2-generation family, 2 affected sisters" "F" "" "France" "" "0" "" "" "" "FamPat5" "00335376" "" "" "" "2" "" "00000" "{PMID:Gasse 2017:28659819}" "2-generation family, 2 affected sisters" "F" "" "France" "" "0" "" "" "" "FamPat6" "00335377" "" "" "00335364" "1" "" "00006" "{PMID:Kim 2020:31999931}" "PatIII1" "F;M" "" "" "" "0" "" "" "" "FamPatIII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 36 "{{individualid}}" "{{diseaseid}}" "00290200" "00198" "00290201" "00198" "00304278" "00198" "00335344" "05650" "00335345" "05650" "00335346" "05650" "00335347" "05650" "00335348" "05650" "00335349" "05650" "00335350" "05650" "00335351" "05650" "00335352" "05650" "00335353" "05650" "00335354" "05650" "00335355" "05650" "00335356" "05650" "00335357" "05650" "00335358" "05650" "00335359" "05650" "00335360" "05650" "00335361" "05650" "00335362" "05650" "00335363" "05650" "00335364" "05650" "00335365" "05650" "00335366" "05650" "00335367" "05650" "00335368" "05650" "00335369" "05650" "00335370" "05650" "00335371" "05650" "00335373" "05650" "00335374" "05650" "00335375" "05650" "00335376" "05650" "00335377" "05650" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03148, 05650 ## Count = 32 "{{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}}" "0000253058" "05650" "00335344" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253059" "05650" "00335345" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253060" "05650" "00335346" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253061" "05650" "00335347" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253062" "05650" "00335348" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253063" "05650" "00335349" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253064" "05650" "00335350" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253065" "05650" "00335351" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253066" "05650" "00335352" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253067" "05650" "00335353" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253068" "05650" "00335354" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253069" "05650" "00335355" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253070" "05650" "00335356" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253071" "05650" "00335357" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253072" "05650" "00335358" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253073" "05650" "00335359" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253074" "05650" "00335360" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253075" "05650" "00335361" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253076" "05650" "00335362" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253077" "05650" "00335363" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253078" "05650" "00335364" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253079" "05650" "00335365" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253080" "05650" "00335366" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253081" "05650" "00335367" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253082" "05650" "00335368" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253083" "05650" "00335369" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253084" "05650" "00335370" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253085" "05650" "00335371" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253087" "05650" "00335373" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253088" "05650" "00335374" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253089" "05650" "00335375" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000253090" "05650" "00335376" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 36 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291368" "00290200" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291369" "00290201" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305407" "00304278" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000336573" "00335344" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336574" "00335345" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336575" "00335346" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336576" "00335347" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336577" "00335348" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336578" "00335349" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336579" "00335350" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336580" "00335351" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336581" "00335352" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336582" "00335353" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336583" "00335354" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336584" "00335355" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336585" "00335356" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336586" "00335357" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336587" "00335358" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336588" "00335359" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336589" "00335360" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336590" "00335361" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336591" "00335362" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336592" "00335363" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336593" "00335364" "1" "00000" "00006" "2021-03-05 09:23:30" "00006" "2021-03-05 10:35:49" "SEQ;SEQ-NG" "DNA" "" "WES" "0000336594" "00335365" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336595" "00335366" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336596" "00335367" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336597" "00335368" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336598" "00335369" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336599" "00335370" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336600" "00335371" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336602" "00335373" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336603" "00335374" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336604" "00335375" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336605" "00335376" "1" "00000" "00006" "2021-03-05 09:23:30" "" "" "SEQ" "DNA" "" "" "0000336606" "00335377" "1" "00006" "00006" "2021-03-05 10:49:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{geneid}}" "0000336573" "MMP20" "0000336574" "MMP20" "0000336575" "MMP20" "0000336576" "MMP20" "0000336577" "MMP20" "0000336578" "MMP20" "0000336579" "MMP20" "0000336580" "MMP20" "0000336581" "MMP20" "0000336582" "MMP20" "0000336583" "MMP20" "0000336584" "MMP20" "0000336585" "MMP20" "0000336586" "MMP20" "0000336587" "MMP20" "0000336588" "MMP20" "0000336589" "MMP20" "0000336590" "MMP20" "0000336591" "MMP20" "0000336592" "MMP20" "0000336593" "AMELX" "0000336593" "MMP20" "0000336594" "MMP20" "0000336595" "MMP20" "0000336596" "MMP20" "0000336597" "MMP20" "0000336598" "MMP20" "0000336599" "MMP20" "0000336600" "MMP20" "0000336602" "MMP20" "0000336603" "MMP20" "0000336604" "MMP20" "0000336605" "MMP20" "0000336606" "AMELX" ## 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 = 61 "{{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}}" "0000248936" "0" "10" "11" "102477395" "102477395" "subst" "0.453439" "02325" "MMP20_000002" "g.102477395A>G" "" "" "" "MMP20(NM_004771.4):c.824T>C (p.V275A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102606664A>G" "" "benign" "" "0000282558" "0" "10" "11" "102495998" "102495998" "subst" "0.664748" "02325" "MMP20_000003" "g.102495998T>G" "" "" "" "MMP20(NM_004771.4):c.53A>C (p.K18T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102625267T>G" "" "benign" "" "0000282559" "0" "10" "11" "102477377" "102477377" "subst" "0.453363" "02325" "MMP20_000001" "g.102477377G>T" "" "" "" "MMP20(NM_004771.4):c.842C>A (p.T281N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102606646G>T" "" "benign" "" "0000648057" "1" "30" "11" "102482504" "102482504" "subst" "0.012594" "03575" "MMP20_000004" "g.102482504T>G" "182/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "182 heterozygous; {DB:CLININrs17099008}" "Germline" "" "rs17099008" "0" "" "" "g.102611773T>G" "" "likely benign" "" "0000648058" "1" "50" "11" "102495959" "102495959" "subst" "0.0045951" "03575" "MMP20_000005" "g.102495959G>A" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs61730847}" "Germline" "" "rs61730847" "0" "" "" "g.102625228G>A" "" "VUS" "" "0000669095" "3" "30" "11" "102482504" "102482504" "subst" "0.012594" "03575" "MMP20_000004" "g.102482504T>G" "6/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs17099008}" "Germline" "" "rs17099008" "0" "" "" "g.102611773T>G" "" "likely benign" "" "0000690856" "0" "50" "11" "102477309" "102477309" "subst" "0.00156834" "01943" "MMP20_000006" "g.102477309C>T" "" "" "" "MMP20(NM_004771.3):c.910G>A (p.A304T), MMP20(NM_004771.4):c.910G>A (p.A304T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690857" "0" "70" "11" "102482620" "102482620" "subst" "0.00149462" "01943" "MMP20_000007" "g.102482620G>A" "" "" "" "MMP20(NM_004771.3):c.389C>T (p.T130I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000735998" "3" "90" "11" "102465490" "102465490" "subst" "0.00107531" "00000" "MMP20_000008" "g.102465490T>A" "" "{PMID:Nikolopoulos 2021:33600052}" "" "" "" "Germline" "" "" "0" "" "" "g.102594759T>A" "" "pathogenic (recessive)" "" "0000735999" "3" "90" "11" "102465490" "102465490" "subst" "0.00107531" "00000" "MMP20_000008" "g.102465490T>A" "" "{PMID:Nikolopoulos 2021:33600052}" "" "" "" "Germline" "" "" "0" "" "" "g.102594759T>A" "" "pathogenic (recessive)" "" "0000736000" "3" "90" "11" "102465490" "102465490" "subst" "0.00107531" "00000" "MMP20_000008" "g.102465490T>A" "" "{PMID:Nikolopoulos 2021:33600052}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102594759T>A" "" "pathogenic (recessive)" "" "0000736001" "3" "90" "11" "102480660" "102480660" "subst" "5.68482E-5" "00000" "MMP20_000009" "g.102480660C>G" "" "{PMID:Nikolopoulos 2021:33600052}" "" "" "" "Germline" "" "" "0" "" "" "g.102609929C>G" "" "pathogenic (recessive)" "" "0000736002" "3" "90" "11" "102480660" "102480660" "subst" "5.68482E-5" "00000" "MMP20_000009" "g.102480660C>G" "" "{PMID:Nikolopoulos 2021:33600052}" "" "" "" "Germline" "" "" "0" "" "" "g.102609929C>G" "" "pathogenic (recessive)" "" "0000736003" "3" "90" "11" "102480660" "102480660" "subst" "5.68482E-5" "00000" "MMP20_000009" "g.102480660C>G" "" "{PMID:Nikolopoulos 2021:33600052}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102609929C>G" "" "pathogenic (recessive)" "" "0000736004" "3" "90" "11" "102480660" "102480660" "subst" "5.68482E-5" "00000" "MMP20_000009" "g.102480660C>G" "" "{PMID:Nikolopoulos 2021:33600052}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102609929C>G" "" "pathogenic (recessive)" "" "0000736005" "3" "90" "11" "102479769" "102479769" "subst" "0" "00000" "MMP20_000010" "g.102479769G>T" "" "{PMID:Nikolopoulos 2021:33600052}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102609038G>T" "" "pathogenic (recessive)" "" "0000736006" "3" "90" "11" "102479769" "102479769" "subst" "0" "00000" "MMP20_000010" "g.102479769G>T" "" "{PMID:Nikolopoulos 2021:33600052}" "" "" "" "Germline" "" "" "0" "" "" "g.102609038G>T" "" "pathogenic (recessive)" "" "0000736007" "1" "90" "11" "102479656" "102479670" "delins" "0" "00000" "MMP20_000011" "g.102479656_102479670delinsCTGG" "" "{PMID:Nikolopoulos 2021:33600052}" "" "" "" "Germline" "" "" "0" "" "" "g.102608925_102608939delinsCTGG" "" "pathogenic (recessive)" "" "0000736008" "3" "90" "11" "102495949" "102495949" "subst" "2.84594E-5" "00000" "MMP20_000013" "g.102495949C>T" "" "{PMID:Papagerakis 2008:18096894}" "" "" "" "Germline" "" "" "0" "" "" "g.102625218C>T" "" "pathogenic (recessive)" "" "0000736009" "11" "70" "11" "102495919" "102495919" "subst" "0" "00000" "MMP20_000014" "g.102495919A>C" "" "{PMID:Prasad 2016:26502894}, {PMID:Gasse 2017:28659819}" "" "" "" "Germline" "" "" "0" "" "" "g.102625188A>C" "" "likely pathogenic (recessive)" "" "0000736010" "11" "90" "11" "102495948" "102495948" "subst" "0.000158562" "00000" "MMP20_000024" "g.102495948T>G" "" "{PMID:Kim 2020:31999931}" "" "" "in minigene splicing assay variants influences splicing, deleting nucleotides c.67 and those upstream" "Germline" "" "" "0" "" "" "g.102625217T>G" "" "pathogenic (!)" "" "0000736011" "11" "90" "11" "102495919" "102495919" "subst" "0" "00000" "MMP20_000014" "g.102495919A>C" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000736012" "0" "90" "11" "102487594" "102487594" "subst" "1.62479E-5" "00000" "MMP20_000015" "g.102487594T>C" "" "{PMID:Gasse 2017:28659819}" "" "" "" "Germline" "" "" "0" "" "" "g.102616863T>C" "" "pathogenic (recessive)" "" "0000736013" "11" "90" "11" "102487565" "102487565" "del" "0" "00000" "MMP20_000016" "g.102487565del" "" "{PMID:Gasse 2013:23625376}" "" "359delA" "" "Germline" "" "" "0" "" "" "g.102616834del" "" "pathogenic (recessive)" "" "0000736014" "3" "90" "11" "102482620" "102482620" "subst" "0.00149462" "00000" "MMP20_000007" "g.102482620G>A" "" "{PMID:Gasse 2013:23625376}" "" "" "" "Germline" "" "" "0" "" "" "g.102611889G>A" "" "pathogenic (recessive)" "" "0000736015" "21" "90" "11" "102482620" "102482620" "subst" "0.00149462" "00000" "MMP20_000007" "g.102482620G>A" "" "{PMID:Kim 2017:28473773}" "" "" "" "Germline" "" "" "0" "" "" "g.102611889G>A" "" "pathogenic (recessive)" "" "0000736016" "21" "90" "11" "102465490" "102465490" "subst" "0.00107531" "00000" "MMP20_000008" "g.102465490T>A" "" "{PMID:Gasse 2017:28659819}" "" "" "" "Germline" "" "" "0" "" "" "g.102594759T>A" "" "pathogenic (recessive)" "" "0000736017" "3" "90" "11" "102480674" "102480674" "subst" "0" "00000" "MMP20_000018" "g.102480674T>C" "" "{PMID:Wang 2013:23355523}" "" "" "" "Germline" "" "" "0" "" "" "g.102609943T>C" "" "pathogenic (recessive)" "" "0000736018" "3" "90" "11" "102480669" "102480669" "subst" "0" "00000" "MMP20_000019" "g.102480669C>T" "" "{PMID:Kim 2020:31999931}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102609938C>T" "" "pathogenic (recessive)" "" "0000736019" "3" "90" "11" "102479801" "102479801" "subst" "0" "00000" "MMP20_000020" "g.102479801A>T" "" "{PMID:Ozdemir 2005:16246936}" "" "g.16250T>A" "" "Germline" "" "" "0" "" "" "g.102609070A>T" "" "pathogenic (recessive)" "" "0000736020" "3" "90" "11" "102479801" "102479801" "subst" "0" "00000" "MMP20_000020" "g.102479801A>T" "" "{PMID:Wright 2011:21597265}" "" "" "" "Germline" "" "" "0" "" "" "g.102609070A>T" "" "pathogenic (recessive)" "" "0000736021" "3" "90" "11" "102479801" "102479801" "subst" "0" "00000" "MMP20_000020" "g.102479801A>T" "" "{PMID:Kim 2017:28473773}" "" "" "" "Germline" "" "" "0" "" "" "g.102609070A>T" "" "pathogenic (recessive)" "" "0000736022" "3" "90" "11" "102477309" "102477309" "subst" "0.00156834" "00000" "MMP20_000006" "g.102477309C>T" "" "{PMID:Lee 2010:19966041}" "" "" "" "Germline" "" "" "0" "" "" "g.102606578C>T" "" "pathogenic (recessive)" "" "0000736023" "21" "90" "11" "102480719" "102480719" "subst" "2.03056E-5" "00000" "MMP20_000022" "g.102480719A>G" "" "{PMID:Gasse 2017:28659819}" "" "" "" "Germline" "" "" "0" "" "" "g.102609988A>G" "" "pathogenic (recessive)" "" "0000736024" "3" "90" "11" "102465490" "102465490" "subst" "0.00107531" "00000" "MMP20_000008" "g.102465490T>A" "" "{PMID:Kim 2005:15744043}" "" "" "" "Germline" "" "" "0" "" "" "g.102594759T>A" "" "pathogenic (recessive)" "" "0000736025" "3" "90" "11" "102465490" "102465490" "subst" "0.00107531" "00000" "MMP20_000008" "g.102465490T>A" "" "{PMID:Wright 2011:21597265}" "" "" "" "Germline" "" "" "0" "" "" "g.102594759T>A" "" "pathogenic (recessive)" "" "0000736027" "3" "90" "11" "102465388" "102465388" "subst" "4.06312E-6" "00000" "MMP20_000023" "g.102465388C>T" "" "{PMID:Seymen 2015:26124219}" "" "" "" "Germline" "" "" "0" "" "" "g.102594657C>T" "" "pathogenic (recessive)" "" "0000736028" "11" "90" "11" "102495948" "102495948" "subst" "0.000158562" "00000" "MMP20_000024" "g.102495948T>G" "" "{PMID:Kim 2020:31999931}" "" "" "in minigene splicing assay variants influences splicing, deleting nucleotides c.67 and those upstream" "Germline" "" "" "0" "" "" "g.102625217T>G" "" "pathogenic (!)" "" "0000736029" "3" "90" "11" "102465490" "102465490" "subst" "0.00107531" "00000" "MMP20_000008" "g.102465490T>A" "" "{PMID:Gasse 2017:28659819}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102594759T>A" "" "pathogenic (recessive)" "" "0000736030" "3" "90" "11" "102465490" "102465490" "subst" "0.00107531" "00000" "MMP20_000008" "g.102465490T>A" "" "{PMID:Gasse 2017:28659819}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102594759T>A" "" "pathogenic (recessive)" "" "0000736031" "2" "90" "11" "102464295" "102464295" "subst" "0" "00000" "MMP20_000012" "g.102464295T>G" "" "{PMID:Nikolopoulos 2021:33600052}" "" "" "" "Germline" "" "" "0" "" "" "g.102593564T>G" "" "pathogenic (recessive)" "" "0000736032" "21" "90" "11" "102465490" "102465490" "subst" "0.00107531" "00000" "MMP20_000008" "g.102465490T>A" "" "{PMID:Prasad 2016:26502894},{PMID:Gasse 2017:28659819}" "" "" "" "Germline" "" "" "0" "" "" "g.102594759T>A" "" "pathogenic (recessive)" "" "0000736033" "21" "90" "11" "102482620" "102482620" "subst" "0.00149462" "00000" "MMP20_000007" "g.102482620G>A" "" "{PMID:Kim 2020:31999931}" "" "" "" "Germline" "" "" "0" "" "" "g.102611889G>A" "" "pathogenic (recessive)" "" "0000736034" "1" "90" "11" "102465490" "102465490" "subst" "0.00107531" "00000" "MMP20_000008" "g.102465490T>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000736035" "21" "90" "11" "102482620" "102482620" "subst" "0.00149462" "00000" "MMP20_000007" "g.102482620G>A" "" "{PMID:Gasse 2013:23625376}" "" "" "" "Germline" "" "" "0" "" "" "g.102611889G>A" "" "pathogenic (recessive)" "" "0000736036" "11" "90" "11" "102480745" "102480745" "subst" "0" "00000" "MMP20_000017" "g.102480745A>T" "" "{PMID:Kim 2017:28473773}" "" "" "" "Germline" "" "" "0" "" "" "g.102610014A>T" "" "pathogenic (recessive)" "" "0000736037" "11" "90" "11" "102482620" "102482620" "subst" "0.00149462" "00000" "MMP20_000007" "g.102482620G>A" "" "{PMID:Gasse 2017:28659819}" "" "" "" "Germline" "" "" "0" "" "" "g.102611889G>A" "" "pathogenic (recessive)" "" "0000736038" "11" "90" "11" "102477309" "102477309" "subst" "0.00156834" "00000" "MMP20_000006" "g.102477309C>T" "" "{PMID:Gasse 2017:28659819}" "" "" "" "Germline" "" "" "0" "" "" "g.102606578C>T" "" "pathogenic (recessive)" "" "0000736039" "21" "90" "11" "102482620" "102482620" "subst" "0.00149462" "00000" "MMP20_000007" "g.102482620G>A" "" "{PMID:Kim 2020:31999931}" "" "" "" "Germline" "" "" "0" "" "" "g.102611889G>A" "" "pathogenic (recessive)" "" "0000736042" "0" "10" "11" "102495998" "102495998" "subst" "0.664748" "00006" "MMP20_000003" "g.102495998T>G" "" "{PMID:Gasse 2017:28659819}" "" "" "" "Germline" "" "" "0" "" "" "g.102625267T>G" "" "benign" "" "0000736043" "0" "10" "11" "102477395" "102477395" "subst" "0.453439" "00006" "MMP20_000002" "g.102477395A>G" "" "{PMID:Gasse 2017:28659819}" "" "" "" "Germline" "" "" "0" "" "" "g.102606664A>G" "" "benign" "" "0000736044" "0" "10" "11" "102477377" "102477377" "subst" "0.453363" "00006" "MMP20_000001" "g.102477377G>T" "" "{PMID:Gasse 2017:28659819}" "" "N281T" "" "Germline" "" "" "0" "" "" "g.102606646G>T" "" "benign" "" "0000736045" "3" "10" "11" "102477395" "102477395" "subst" "0.453439" "00006" "MMP20_000002" "g.102477395A>G" "" "{PMID:Ozdemir 2005:16246936}" "" "g.18661T>C" "" "Germline" "" "rs1784423" "0" "" "" "g.102606664A>G" "" "benign" "" "0000736046" "3" "10" "11" "102477377" "102477377" "subst" "0.453363" "00006" "MMP20_000001" "g.102477377G>T" "" "{PMID:Ozdemir 2005:16246936}" "" "g.18679C>A" "" "Germline" "" "rs1784424" "0" "" "" "g.102606646G>T" "" "benign" "" "0000736047" "3" "10" "11" "102464451" "102464451" "subst" "0" "00006" "MMP20_000021" "g.102464451C>A" "" "{PMID:Ozdemir 2005:16246936}" "" "g.31605G>A" "" "Germline" "" "rs1784440" "0" "" "" "g.102593720C>A" "" "benign" "" "0000736050" "21" "90" "11" "102480669" "102480669" "subst" "0" "00006" "MMP20_000019" "g.102480669C>T" "" "{PMID:Kim 2020:31999931}" "" "" "" "Germline" "" "" "0" "" "" "g.102609938C>T" "" "pathogenic (recessive)" "" "0000862109" "0" "50" "11" "102449808" "102449808" "subst" "0.00381878" "01943" "MMP20_000025" "g.102449808C>G" "" "" "" "MMP20(NM_004771.3):c.1313G>C (p.G438A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862110" "0" "30" "11" "102479768" "102479768" "subst" "1.6245E-5" "01943" "MMP20_000026" "g.102479768G>A" "" "" "" "MMP20(NM_004771.3):c.711C>T (p.S237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966036" "0" "70" "11" "102477309" "102477309" "subst" "0.00156834" "02327" "MMP20_000006" "g.102477309C>T" "" "" "" "MMP20(NM_004771.3):c.910G>A (p.A304T), MMP20(NM_004771.4):c.910G>A (p.A304T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025803" "0" "50" "11" "102477309" "102477309" "subst" "0.00156834" "02325" "MMP20_000006" "g.102477309C>T" "" "" "" "MMP20(NM_004771.3):c.910G>A (p.A304T), MMP20(NM_004771.4):c.910G>A (p.A304T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025804" "0" "50" "11" "102482626" "102482626" "subst" "0.0007392" "02325" "MMP20_000027" "g.102482626T>G" "" "" "" "MMP20(NM_004771.4):c.383A>C (p.K128T)" "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 MMP20 ## Count = 61 "{{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}}" "0000248936" "00013725" "10" "824" "0" "824" "0" "c.824T>C" "r.(?)" "p.(Val275Ala)" "" "0000282558" "00013725" "10" "53" "0" "53" "0" "c.53A>C" "r.(?)" "p.(Lys18Thr)" "" "0000282559" "00013725" "10" "842" "0" "842" "0" "c.842C>A" "r.(?)" "p.(Thr281Asn)" "" "0000648057" "00013725" "30" "505" "0" "505" "0" "c.505A>C" "r.(?)" "p.(Ile169Leu)" "" "0000648058" "00013725" "50" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "" "0000669095" "00013725" "30" "505" "0" "505" "0" "c.505A>C" "r.(?)" "p.(Ile169Leu)" "" "0000690856" "00013725" "50" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Ala304Thr)" "" "0000690857" "00013725" "70" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" "" "0000735998" "00013725" "90" "954" "-2" "954" "-2" "c.954-2A>T" "r.spl" "p.?" "" "0000735999" "00013725" "90" "954" "-2" "954" "-2" "c.954-2A>T" "r.spl" "p.?" "" "0000736000" "00013725" "90" "954" "-2" "954" "-2" "c.954-2A>T" "r.spl" "p.?" "" "0000736001" "00013725" "90" "625" "0" "625" "0" "c.625G>C" "r.(?)" "p.(Glu209Gln)" "" "0000736002" "00013725" "90" "625" "0" "625" "0" "c.625G>C" "r.(?)" "p.(Glu209Gln)" "" "0000736003" "00013725" "90" "625" "0" "625" "0" "c.625G>C" "r.(?)" "p.(Glu209Gln)" "" "0000736004" "00013725" "90" "625" "0" "625" "0" "c.625G>C" "r.(?)" "p.(Glu209Gln)" "" "0000736005" "00013725" "90" "710" "0" "710" "0" "c.710C>A" "r.(?)" "p.(Ser237Tyr)" "" "0000736006" "00013725" "90" "710" "0" "710" "0" "c.710C>A" "r.(?)" "p.(Ser237Tyr)" "" "0000736007" "00013725" "90" "809" "0" "811" "12" "c.809_811+12delinsCCAG" "r.spl" "p.?" "" "0000736008" "00013725" "90" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Trp34*)" "" "0000736009" "00013725" "70" "126" "6" "126" "6" "c.126+6T>G" "r.spl" "p.?" "" "0000736010" "00013725" "90" "103" "0" "103" "0" "c.103A>C" "r.spl" "p.?" "" "0000736011" "00013725" "90" "126" "6" "126" "6" "c.126+6T>G" "r.spl" "p.?" "" "0000736012" "00013725" "90" "323" "0" "323" "0" "c.323A>G" "r.(?)" "p.(Tyr108Cys)" "" "0000736013" "00013725" "90" "359" "0" "359" "0" "c.359del" "r.(?)" "p.(Asn120Ilefs*3)" "" "0000736014" "00013725" "90" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" "" "0000736015" "00013725" "90" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" "" "0000736016" "00013725" "90" "954" "-2" "954" "-2" "c.954-2A>T" "r.spl" "p.(Ile319Phefs*19)" "" "0000736017" "00013725" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(His204Arg)" "" "0000736018" "00013725" "90" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Asp206Asn)" "" "0000736019" "00013725" "90" "678" "0" "678" "0" "c.678T>A" "r.(?)" "p.(His226Gln)" "" "0000736020" "00013725" "90" "678" "0" "678" "0" "c.678T>A" "r.(?)" "p.(His226Gln)" "" "0000736021" "00013725" "90" "678" "0" "678" "0" "c.678T>A" "r.(?)" "p.(His226Gln)" "" "0000736022" "00013725" "90" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Ala304Thr)" "" "0000736023" "00013725" "90" "566" "0" "566" "0" "c.566T>C" "r.(?)" "p.(Leu189Pro)" "" "0000736024" "00013725" "90" "954" "-2" "954" "-2" "c.954-2A>T" "r.spl" "p.?" "" "0000736025" "00013725" "90" "954" "-2" "954" "-2" "c.954-2A>T" "r.spl" "p.?" "" "0000736027" "00013725" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Glu352Lys)" "" "0000736028" "00013725" "90" "103" "0" "103" "0" "c.103A>C" "r.spl" "p.?" "" "0000736029" "00013725" "90" "954" "-2" "954" "-2" "c.954-2A>T" "r.spl" "p.?" "" "0000736030" "00013725" "90" "954" "-2" "954" "-2" "c.954-2A>T" "r.spl" "p.?" "" "0000736031" "00013725" "90" "1122" "0" "1122" "0" "c.1122A>C" "r.(?)" "p.(Gln374His)" "" "0000736032" "00013725" "90" "954" "-2" "954" "-2" "c.954-2A>T" "r.spl" "p.(Ile319Phefs*19)" "" "0000736033" "00013725" "90" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" "" "0000736034" "00013725" "90" "954" "-2" "954" "-2" "c.954-2A>T" "r.spl" "p.(I319Ffs*19)" "" "0000736035" "00013725" "90" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" "" "0000736036" "00013725" "90" "540" "0" "540" "0" "c.540T>A" "r.(?)" "p.(Tyr180*)" "" "0000736037" "00013725" "90" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" "" "0000736038" "00013725" "90" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Ala304Thr)" "" "0000736039" "00013725" "90" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" "" "0000736042" "00013725" "10" "53" "0" "53" "0" "c.53A>C" "r.(?)" "p.(Lys18Thr)" "" "0000736043" "00013725" "10" "824" "0" "824" "0" "c.824T>C" "r.(?)" "p.(Val275Ala)" "" "0000736044" "00013725" "10" "842" "0" "842" "0" "c.842C>A" "r.(?)" "p.(Thr281Asn)" "" "0000736045" "00013725" "10" "824" "0" "824" "0" "c.824T>C" "r.(?)" "p.(Val275Ala)" "" "0000736046" "00013725" "10" "842" "0" "842" "0" "c.842C>A" "r.(?)" "p.(Thr281Asn)" "" "0000736047" "00013725" "10" "1091" "-125" "1091" "-125" "c.1091-125G>T" "r.(?)" "p.(=)" "" "0000736050" "00013725" "90" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Asp206Asn)" "" "0000862109" "00013725" "50" "1313" "0" "1313" "0" "c.1313G>C" "r.(?)" "p.(Gly438Ala)" "" "0000862110" "00013725" "30" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.(Ser237=)" "" "0000966036" "00013725" "70" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Ala304Thr)" "" "0001025803" "00013725" "50" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Ala304Thr)" "" "0001025804" "00013725" "50" "383" "0" "383" "0" "c.383A>C" "r.(?)" "p.(Lys128Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 51 "{{screeningid}}" "{{variantid}}" "0000291368" "0000648057" "0000291369" "0000648058" "0000305407" "0000669095" "0000336573" "0000735998" "0000336574" "0000735999" "0000336575" "0000736000" "0000336576" "0000736001" "0000336577" "0000736002" "0000336578" "0000736003" "0000336579" "0000736004" "0000336580" "0000736005" "0000336581" "0000736006" "0000336582" "0000736007" "0000336582" "0000736031" "0000336583" "0000736008" "0000336584" "0000736009" "0000336584" "0000736032" "0000336584" "0000736042" "0000336584" "0000736043" "0000336584" "0000736044" "0000336585" "0000736010" "0000336585" "0000736033" "0000336586" "0000736011" "0000336586" "0000736034" "0000336587" "0000736012" "0000336588" "0000736013" "0000336588" "0000736035" "0000336589" "0000736014" "0000336590" "0000736015" "0000336590" "0000736036" "0000336591" "0000736016" "0000336591" "0000736037" "0000336592" "0000736017" "0000336593" "0000736018" "0000336594" "0000736019" "0000336594" "0000736045" "0000336594" "0000736046" "0000336594" "0000736047" "0000336595" "0000736020" "0000336596" "0000736021" "0000336597" "0000736022" "0000336598" "0000736023" "0000336598" "0000736038" "0000336599" "0000736024" "0000336600" "0000736025" "0000336602" "0000736027" "0000336603" "0000736028" "0000336603" "0000736039" "0000336604" "0000736029" "0000336605" "0000736030" "0000336606" "0000736050"