### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SERPINF1) # 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}}" "SERPINF1" "serpin family F member 1" "17" "p13.3" "unknown" "NG_028180.1" "UD_132119072743" "" "https://www.LOVD.nl/SERPINF1" "Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases \r\nOsteogenesis Imperfecta Federation Europe (OIFE) " "1" "8824" "5176" "172860" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nThis database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/SERPINF1_codingDNA.html" "1" "" "
Osteogenesis Imperfecta Variant Database\r\n
\r\n\r\n
" "-1" "" "-1" "00001" "2011-03-01 00:00:00" "00085" "2022-04-05 13:10:25" "00000" "2025-11-01 13:22:20" ## 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}}" "00018728" "SERPINF1" "serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1" "001" "NM_002615.5" "" "NP_002606.3" "" "" "" "-157" "1376" "1257" "1665259" "1680859" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "02998" "OI5" "osteogenesis imperfecta, type V (OI5)" "AD" "610967" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 09:24:20" "03504" "OI6" "osteogenesis imperfecta, type VI (OI6)" "AR" "613982" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 12:55:18" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05932" "OTSC" "otosclerosis (OTSC)" "AR" "" "" "" "" "00006" "2021-05-11 17:31:37" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SERPINF1" "03504" "SERPINF1" "05296" ## Individuals ## Do not remove or alter this header ## ## Count = 95 "{{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}}" "00291645" "" "" "" "85" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295529" "" "" "" "1" "" "03566" "" "" "" "" "" "" "0" "" "" "" "SERPINF1" "00300379" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam33" "00300380" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam34" "00300381" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam35" "00300434" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam87" "00304568" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00326414" "" "" "" "1" "" "01164" "" "" "M" "?" "Syria" "" "0" "" "" "" "174848" "00331562" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2M)" "M" "yes" "" "" "0" "" "" "Arab" "12DG0479 ,12DG0480" "00331563" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "13DG1467" "00361765" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00372914" "" "" "" "1" "" "00085" "{PMID:Shaheen 2012:23054245}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "OI_F6" "00372915" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372916" "" "" "" "1" "" "00085" "{PMID:Barbirato 2016:27706701}" "" "" "" "Brazil" "" "0" "" "" "" "P.1" "00372917" "" "" "" "1" "" "00085" "{PMID:Cho 2013:23853499}" "" "" "" "Korea" "" "0" "" "" "" "" "00372918" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372919" "" "" "" "1" "" "00085" "{PMID:Barbirato 2016:27706701}" "" "" "" "Brazil" "" "0" "" "" "" "P.7" "00372920" "" "" "" "1" "" "00085" "{PMID:Ziff 2016:27056980}" "" "" "" "" "" "0" "" "" "" "" "00372921" "" "" "" "1" "" "00085" "{PMID:Ji 2019:31204718}" "" "" "" "" "" "0" "" "" "" "" "00372922" "" "" "" "1" "" "00085" "{PMID:Wang 2017:27796462}" "The patient in this study was presented again as Family 33 by {PMID28725987:Liu et al., 2017} but with a phenotype of OI III." "" "" "China" "" "0" "" "" "" "Patient 4" "00372923" "" "" "" "1" "" "03893" "" "" "" "" "" "" "0" "" "" "" "MAA" "00372924" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Palestine" "" "0" "" "" "" "AN_005837" "00372925" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372926" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "P47" "00372927" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372928" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372929" "" "" "" "1" "" "00085" "{PMID:Tucker 2012:22528245}" "" "" "" "" "" "0" "" "" "" "" "00372930" "" "" "" "1" "" "00085" "{PMID:Rauch 2012:22669302}" "This patient was previously described in {PMID:Glorieux et al., 2002:11771667} as Patient 3. This patient is described as Individual T11 by {PMID25086671:Rauch et al., 2014}." "" "" "France;Ireland" "" "0" "" "" "French-Canadian" "Patient 3" "00372931" "" "" "" "1" "" "00085" "{PMID:Rauch 2012:22669302}" "This patient was previously described in {PMID:Glorieux et al., 2002:11771667} as Patient 4." "" "" "Nicaragua" "" "0" "" "" "" "Patient 4" "00372932" "" "" "" "1" "" "00085" "{PMID:Rauch 2012:22669302}" "This patient was previously described in {PMID:Glorieux et al., 2002:11771667} as Patient 7. Only one SEPRPINF1 sequence variant has been identified for this patient." "" "" "Germany;Poland" "" "0" "" "" "" "Patient 7" "00372933" "" "" "" "1" "" "00085" "{PMID:Wang 2017:27796462}" "The probands mother was confirmed to harbour the sequence variant, but the variant was not detected in the fathers DNA. Possible explanations include non-paternity or that the father is mosaic for the variant." "" "" "China" "" "0" "" "" "" "Patient 1" "00372934" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Spain" "" "0" "" "" "" "No. 72" "00372935" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Egypt" "" "0" "" "" "" "No. 67" "00372936" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372937" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "P21" "00372938" "" "" "" "1" "" "00085" "{PMID:Wang 2017:27796462}" "" "" "" "China" "" "0" "" "" "" "Patient 2" "00372939" "" "" "" "1" "" "00085" "{PMID:Zhang 2018:29512769}" "" "" "" "China" "" "0" "" "" "" "Family 2" "00372940" "" "" "" "1" "" "00085" "{PMID:Homan 2011:21826736}" "" "" "" "France" "" "0" "" "" "French-Canadian" "Patient IV-3" "00372941" "" "" "" "1" "" "00085" "{PMID:Rauch 2012:22669302}" "This patient was previously described in {PMID:Glorieux et al., 2002:11771667} as Patient 5." "" "" "France;Germany" "" "0" "" "" "French-Canadian" "Patient 5" "00372942" "" "" "" "1" "" "00085" "{PMID:Rauch 2012:22669302}" "" "" "" "France" "" "0" "" "" "French-Canadian" "Patient 11" "00372943" "" "" "" "1" "" "00085" "{PMID:Becker 2011:21353196}" "SDS-PAGE analysis of collagen types I, III and V for this patient showed normal migration.; This individual was also presented as Patient 1 by {PMID25257953:Hoyer-Kuhn et al., 2014}." "" "" "Turkey" "" "0" "" "" "" "Patient 3" "00372944" "" "" "" "1" "" "00085" "{PMID:Ziff 2016:27056980}" "" "" "" "" "" "0" "" "" "" "" "00372945" "" "" "" "1" "" "00085" "{PMID:Ziff 2016:27056980}" "A subsequent study, {PMID30968248:Valgaeren et al., 2019}, demonstrates that variant detected in this patient is not pathogenic." "" "" "" "" "0" "" "" "" "" "00372946" "" "" "" "1" "" "00085" "{PMID:Wang 2017:27796462}" "The probands younger sibling (Patient 6) also harbours the same c.397C>T variant. A second variant has not been identified in this family." "" "" "China" "" "0" "" "" "" "Patient 5" "00372947" "" "" "" "1" "" "00085" "{PMID:Venturi 2011:22113968}" "" "" "yes" "Italy;Sweden;France" "" "0" "" "" "" "" "00372948" "" "" "" "1" "" "00085" "{PMID:Jin 2018:30283904}" "" "" "" "" "" "0" "" "" "" "" "00372949" "" "" "" "1" "" "00085" "{PMID:Rauch 2012:22669302}" "The patients brother (Patient 9) is also homozygous for this deletion." "" "" "Ecuador" "" "0" "" "" "" "Patient 8" "00372950" "" "" "" "1" "" "00085" "{PMID:Ziff 2016:27056980}" "" "" "" "" "" "0" "" "" "" "" "00372951" "" "" "" "1" "" "03893" "" "" "" "" "" "" "0" "" "" "" "3090" "00372952" "" "" "" "1" "" "00085" "{PMID:Rauch 2014:25086671}" "The precise end points of the exon 5 deletion are not defined." "" "" "" "" "0" "" "" "" "" "00372953" "" "" "" "1" "" "00085" "{PMID:Ziff 2016:27056980}" "" "" "" "" "" "0" "" "" "" "" "00372954" "" "" "" "1" "" "00085" "{PMID:Ziff 2016:27056980}" "" "" "" "" "" "0" "" "" "" "" "00372955" "" "" "" "1" "" "00085" "{PMID:Stephen 2015:25450603}" "The patient has one affected sister and the parents are consanguineous and confirmed to be heterozygous for the variant." "" "" "India" "" "0" "" "" "" "Patient 4" "00372956" "" "" "" "1" "" "00085" "{PMID:Al-Jallad 2014:25127091}" "" "" "" "" "" "0" "" "" "" "" "00372957" "" "" "" "1" "" "00085" "{PMID:Ziff 2016:27056980}" "Patient ID OTSC134 corresponds to Family B. ; The reported variant in this patient lies in the 5´UTR of an alternative transcript (ENST00000573763.1) which is the major transcript in stapes bone. The substitution (c.-1G>A) results in altered expression of that transcript." "" "" "" "" "0" "" "" "Europe;Caribbean" "" "00372958" "" "" "" "1" "" "00085" "{PMID:Mohd Nawawi 2018:29807018}" "SERPINF1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype." "" "" "Malaysia" "" "0" "" "" "" "OI 18" "00372959" "" "" "" "1" "" "00085" "{PMID:Barbirato 2016:27706701}" "" "" "" "Brazil" "" "0" "" "" "" "P.8" "00372960" "" "" "" "1" "" "00085" "{PMID:Barbirato 2016:27706701}" "" "" "" "Brazil" "" "0" "" "" "" "P.9" "00372961" "" "" "" "1" "" "00085" "{PMID:Barbirato 2016:27706701}" "" "" "" "Brazil" "" "0" "" "" "" "P.10" "00372962" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "P4" "00372963" "" "" "" "1" "" "03864" "{PMID:Caparrós-Martin 2013:23613367}" "" "" "" "Egypt" "" "0" "" "" "" "Family 9" "00372964" "" "" "" "1" "" "03864" "{PMID:Caparrós-Martin 2013:23613367}" "" "" "" "Egypt" "" "0" "" "" "" "Family 10" "00372965" "" "" "" "1" "" "03893" "" "" "" "" "" "" "0" "" "" "" "3206" "00372966" "" "" "" "1" "" "03893" "" "" "" "" "" "" "0" "" "" "" "3398" "00372967" "" "" "" "1" "" "00085" "{PMID:Shaheen 2012:23054245}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "OI_F12" "00372968" "" "" "" "1" "" "00085" "{PMID:Becker 2011:21353196}" "The proband also has an older brother (Patient 2) who is homozygous for the same variant and has OI III. Both parents (second cousins) and both sisters are heterozygous for the variant and unaffected.; This individual was also presented as Patient 3, and the sibling as Patient 4, by {PMID25257953:Hoyer-Kuhn et al., 2014}." "" "" "" "" "0" "" "" "Arab" "Patient 1" "00372969" "" "" "" "1" "" "03864" "{PMID:Caparrós-Martin 2013:23613367}" "younger brother (patient 10, AN_002120) is also homozygous for this variant." "" "" "Egypt" "" "0" "" "" "" "Fam8Pat9" "00372970" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Egypt" "" "0" "" "" "" "No. 69" "00372971" "" "" "" "1" "" "00085" "{PMID:Ward 2016:26815784}" "" "" "" "Canada" "" "0" "" "" "Canada-N" "Individual 1" "00372972" "" "" "" "1" "" "00085" "{PMID:Ward 2016:26815784}" "" "" "" "Canada" "" "0" "" "" "Canada-N" "Individual 2" "00372973" "" "" "" "1" "" "00085" "{PMID:Al-Jallad 2014:25127091}" "" "" "" "" "" "0" "" "" "" "" "00372974" "" "" "" "1" "" "00085" "{PMID:Rauch 2012:22669302}" "" "" "" "Nepal" "" "0" "" "" "" "Patient 12" "00372975" "" "" "" "1" "" "00085" "{PMID:Stephen 2015:25450603}" "The patient has three affected brothers and the parents are consanguineous and confirmed to be heterozygous for the variant." "" "" "India" "" "0" "" "" "" "Patient 5" "00372976" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372977" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "P41" "00372978" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372979" "" "" "" "1" "" "00085" "{PMID:Zhang 2018:29512769}" "The patient appears superficially to have a homozygous sequence variant. However, whilst the patients father was heterozygous for the variant, the mother and the patient appear to have an undefined deletion of the SERPINF1 gene.;" "" "" "China" "" "0" "" "" "" "Family 1" "00372980" "" "" "" "1" "" "00085" "{PMID:Zhang 2018:29512769}" "The proband appears to be homozygous for the variant, but sequence analysis of the probands mother shows that she is not a carrier of the sequence variant, but has an undefined deletion of the SERPINF1 gene for which the proband is heterozygous." "" "" "China" "" "0" "" "" "" "Proband 1" "00372981" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Egypt" "" "0" "" "" "" "No. 301" "00372982" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Egypt" "" "0" "" "" "" "No. 93" "00372983" "" "" "" "1" "" "00085" "{PMID:Shaheen 2012:23054245}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "OI_F5" "00372984" "" "" "" "1" "" "00085" "{PMID:Becker 2011:21353196}" "This individual was also presented as Patient 2 by {PMID25257953:Hoyer-Kuhn et al., 2014}." "" "" "Turkey" "" "0" "" "" "" "Patient 4" "00372985" "" "" "" "1" "" "00085" "{PMID:Minillo 2014:25565926}" "" "" "" "Brazil" "" "0" "" "" "" "Family 1 IX-2" "00372986" "" "" "" "1" "" "00085" "{PMID:Minillo 2014:25565926}" "" "" "" "Brazil" "" "0" "" "" "" "Family 2 III-6" "00372987" "" "" "" "1" "" "00085" "{PMID:Homan 2011:21826736}" "" "" "" "Italy" "" "0" "" "" "" "" "00372988" "" "" "" "1" "" "00085" "{PMID:Wang 2017:27796462}" "" "" "" "China" "" "0" "" "" "" "Patient 3" "00372989" "" "" "" "1" "" "03893" "" "" "" "" "" "" "0" "" "" "" "P 1" "00410180" "" "" "" "1" "" "04315" "{PMID:Kuptanon 2022:35703132}, {DOI:Kuptanon 2022:10.1111/cge.14172}" "" "M" "no" "Thailand" "" "0" "" "" "" "Pat3" "00431358" "" "" "" "1" "" "04465" "{PMID:Fernandes 2020:32123938}" "" "?" "no" "Brazil" ">15y" "0" "" "" "" "Pat1" "00435097" "" "" "" "1" "" "04465" "{PMID:Zhalsanova 2023:37047644}" "" "M" "no" "Russia" ">01y" "" "" "" "Tuva nationality" "Pat1" "00466815" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat102" "00466816" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat103" "00466817" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat104" "00466818" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat105" "00466819" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat106" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 95 "{{individualid}}" "{{diseaseid}}" "00291645" "00198" "00295529" "00198" "00300379" "05296" "00300380" "05296" "00300381" "05296" "00300434" "05296" "00304568" "00198" "00326414" "03504" "00331562" "05517" "00331563" "05517" "00361765" "02998" "00372914" "05296" "00372915" "05296" "00372916" "05296" "00372917" "05296" "00372918" "05296" "00372919" "05296" "00372920" "05932" "00372921" "05296" "00372922" "05296" "00372923" "00198" "00372924" "05296" "00372925" "05296" "00372926" "05296" "00372927" "05296" "00372928" "05296" "00372929" "05296" "00372930" "05296" "00372931" "05296" "00372932" "00198" "00372933" "05296" "00372934" "05296" "00372935" "05296" "00372936" "05296" "00372937" "05296" "00372938" "05296" "00372939" "05296" "00372940" "05296" "00372941" "05296" "00372942" "05296" "00372943" "05296" "00372944" "05932" "00372945" "05932" "00372946" "05296" "00372947" "05296" "00372948" "05296" "00372949" "05296" "00372950" "05932" "00372951" "05296" "00372952" "05296" "00372953" "05932" "00372954" "05932" "00372955" "05296" "00372956" "05296" "00372957" "05932" "00372958" "05296" "00372959" "05296" "00372960" "05296" "00372961" "05296" "00372962" "05296" "00372963" "05296" "00372964" "05296" "00372965" "05296" "00372966" "05296" "00372967" "05296" "00372968" "05296" "00372969" "05296" "00372970" "05296" "00372971" "05296" "00372972" "05296" "00372973" "05296" "00372974" "05296" "00372975" "05296" "00372976" "05296" "00372977" "05296" "00372978" "05296" "00372979" "05296" "00372980" "05296" "00372981" "05296" "00372982" "05296" "00372983" "05296" "00372984" "05296" "00372985" "05296" "00372986" "05296" "00372987" "05296" "00372988" "05296" "00372989" "05296" "00410180" "03504" "00431358" "05296" "00435097" "03504" "00466815" "05296" "00466816" "05296" "00466817" "05296" "00466818" "05296" "00466819" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02998, 03504, 05296, 05517, 05932 ## Count = 92 "{{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}}" "0000227687" "05296" "00300379" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type III" "" "0000227688" "05296" "00300380" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type III" "" "0000227689" "05296" "00300381" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type III" "" "0000227742" "05296" "00300434" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type IV" "" "0000244875" "03504" "00326414" "01164" "Unknown" "" "clinically osteogenesis imperfecta, multiple fractures of long tubular bones" "" "" "" "" "" "" "" "" "" "1y" "" "0000249754" "05517" "00331562" "00000" "Familial, autosomal recessive" "" "Recurrent fractures, Kyphosis, Osteopenia, Vertebral compression fractures" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249755" "05517" "00331563" "00000" "Familial, autosomal recessive" "" "Recurrent fractures, Delayed gross motor development" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000257158" "02998" "00361765" "03219" "Familial, autosomal recessive" "" "Recurrent fractures, microphthalmia\r\nDevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000268190" "05296" "00372914" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268191" "05296" "00372915" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268192" "05296" "00372916" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268193" "05296" "00372917" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268194" "05296" "00372918" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268195" "05296" "00372919" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268196" "05932" "00372920" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial Otosclerosis" "" "0000268197" "05296" "00372921" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268198" "05296" "00372922" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268199" "00198" "00372923" "03893" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bone fragility" "" "0000268200" "05296" "00372924" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268201" "05296" "00372925" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268202" "05296" "00372926" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268203" "05296" "00372927" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268204" "05296" "00372928" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268205" "05296" "00372929" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268206" "05296" "00372930" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268207" "05296" "00372931" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268208" "00198" "00372932" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268209" "05296" "00372933" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268210" "05296" "00372934" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268211" "05296" "00372935" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268212" "05296" "00372936" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268213" "05296" "00372937" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268214" "05296" "00372938" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268215" "05296" "00372939" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268216" "05296" "00372940" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268217" "05296" "00372941" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268218" "05296" "00372942" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268219" "05296" "00372943" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268220" "05932" "00372944" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial Otosclerosis" "" "0000268221" "05932" "00372945" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial Otosclerosis" "" "0000268222" "05296" "00372946" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268223" "05296" "00372947" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268224" "05296" "00372948" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268225" "05296" "00372949" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268226" "05932" "00372950" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial Otosclerosis" "" "0000268227" "05296" "00372951" "03893" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268228" "05296" "00372952" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268229" "05932" "00372953" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial Otosclerosis" "" "0000268230" "05932" "00372954" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial Otosclerosis" "" "0000268231" "05296" "00372955" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268232" "05296" "00372956" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268233" "05932" "00372957" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial Otosclerosis" "" "0000268234" "05296" "00372958" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268235" "05296" "00372959" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI I" "" "0000268236" "05296" "00372960" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI I" "" "0000268237" "05296" "00372961" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268238" "05296" "00372962" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268239" "05296" "00372963" "03864" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268240" "05296" "00372964" "03864" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268241" "05296" "00372965" "03893" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268242" "05296" "00372966" "03893" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268243" "05296" "00372967" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268244" "05296" "00372968" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268245" "05296" "00372969" "03864" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268246" "05296" "00372970" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268247" "05296" "00372971" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268248" "05296" "00372972" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268249" "05296" "00372973" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268250" "05296" "00372974" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268251" "05296" "00372975" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268252" "05296" "00372976" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268253" "05296" "00372977" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268254" "05296" "00372978" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268255" "05296" "00372979" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268256" "05296" "00372980" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268257" "05296" "00372981" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268258" "05296" "00372982" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268259" "05296" "00372983" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268260" "05296" "00372984" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268261" "05296" "00372985" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268262" "05296" "00372986" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268263" "05296" "00372987" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268264" "05296" "00372988" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000268265" "05296" "00372989" "03893" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VI" "" "0000302284" "03504" "00410180" "04315" "Familial, autosomal recessive" "" "no Dentinogenesis imperfecta (-HP:0000703), no Blue sclerae (-HP:0000592), Short stature (HP:0004322)" "00y14m" "" "Bone fracture (HP:0020110)" "" "" "" "" "" "" "" "" "0000322352" "05296" "00431358" "04465" "Familial, autosomal recessive" "00y10m" "Abnormal facial shape, club feet, lower leg bowing, developmental delay, generalized osteopenia, white sclerae." "" "" "" "" "" "" "" "" "" "" "" "0000325336" "03504" "00435097" "04465" "Familial, autosomal recessive" "01y" "" "" "" "" "" "" "" "" "" "" "" "" "0000352178" "05296" "00466815" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI6" "osteogenesis imperfecta" "" "0000352179" "05296" "00466816" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI6" "osteogenesis imperfecta" "" "0000352180" "05296" "00466817" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI6" "osteogenesis imperfecta" "" "0000352181" "05296" "00466818" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI6" "osteogenesis imperfecta" "" "0000352182" "05296" "00466819" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 95 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292813" "00291645" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296699" "00295529" "1" "03566" "03566" "2020-03-17 13:17:51" "" "" "SEQ-NG" "DNA" "" "" "0000301500" "00300379" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301501" "00300380" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301502" "00300381" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301555" "00300434" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000305697" "00304568" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000327628" "00326414" "1" "01164" "01164" "2021-01-11 16:14:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000332781" "00331562" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332782" "00331563" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362993" "00361765" "1" "03219" "03219" "2021-04-10 05:51:47" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000374148" "00372914" "1" "00085" "00085" "2012-11-13 09:53:53" "00085" "2012-11-13 09:55:06" "PCR;SEQ" "DNA" "" "" "0000374149" "00372915" "1" "03894" "03894" "2018-09-25 13:47:18" "" "" "PCR;SEQ" "DNA" "" "" "0000374150" "00372916" "1" "00085" "00085" "2019-09-02 14:45:20" "" "" "SEQ" "DNA" "" "" "0000374151" "00372917" "1" "00085" "00085" "2013-07-18 11:51:05" "" "" "SEQ" "DNA" "" "" "0000374152" "00372918" "1" "03894" "03894" "2018-09-25 14:22:57" "" "" "PCR;SEQ" "DNA" "" "" "0000374153" "00372919" "1" "00085" "00085" "2019-09-02 14:19:04" "" "" "SEQ" "DNA" "" "" "0000374154" "00372920" "1" "00085" "00085" "2016-07-27 11:20:23" "00085" "2016-07-27 11:20:52" "PCR;SEQ" "DNA" "" "" "0000374155" "00372921" "1" "00085" "00085" "2019-08-12 16:30:11" "00085" "2019-08-22 14:51:41" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374156" "00372922" "1" "00085" "00085" "2017-02-08 12:52:19" "00085" "2019-09-04 13:33:39" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000374157" "00372923" "1" "03893" "03893" "2018-04-17 12:34:02" "00085" "2018-09-24 13:29:56" "SEQ" "DNA" "" "" "0000374158" "00372924" "1" "01819" "01819" "2016-11-28 18:45:42" "" "" "PCR;SEQ" "DNA" "" "" "0000374159" "00372925" "1" "03894" "03894" "2018-09-25 14:03:43" "" "" "PCR;SEQ" "DNA" "" "" "0000374160" "00372926" "1" "00085" "00085" "2019-08-20 15:20:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374161" "00372927" "1" "03894" "03894" "2018-09-25 13:36:26" "" "" "PCR;SEQ" "DNA" "" "" "0000374162" "00372928" "1" "03894" "03894" "2018-09-25 14:17:12" "" "" "PCR;SEQ" "DNA" "" "" "0000374163" "00372929" "1" "00085" "00085" "2012-04-25 13:11:40" "" "" "SEQ" "DNA" "" "" "0000374164" "00372930" "1" "00085" "00085" "2012-06-07 13:38:04" "00085" "2014-08-05 13:00:59" "PCR;SEQ" "DNA" "" "" "0000374165" "00372931" "1" "00085" "00085" "2012-06-07 13:40:06" "" "" "PCR;SEQ" "DNA" "" "" "0000374166" "00372932" "1" "00085" "00085" "2012-06-07 13:52:05" "00085" "2012-06-07 13:53:02" "PCR;SEQ" "DNA" "" "" "0000374167" "00372933" "1" "00085" "00085" "2017-02-07 13:45:54" "00085" "2017-02-07 13:50:16" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000374168" "00372934" "1" "00085" "00085" "2017-03-15 16:27:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374169" "00372935" "1" "00085" "00085" "2017-03-16 16:36:21" "" "" "PCR;SEQ" "DNA" "" "" "0000374170" "00372936" "1" "03894" "03894" "2018-09-25 13:41:22" "" "" "PCR;SEQ" "DNA" "" "" "0000374171" "00372937" "1" "00085" "00085" "2019-08-20 09:29:44" "00085" "2019-08-23 16:11:34" "SEQ" "DNA" "" "" "0000374172" "00372938" "1" "00085" "00085" "2017-02-07 16:30:23" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000374173" "00372939" "1" "00085" "00085" "2018-09-24 14:30:26" "00085" "2019-08-28 11:42:43" "PCR;SEQ" "DNA" "" "" "0000374174" "00372940" "1" "00085" "00085" "2011-11-15 13:35:17" "00085" "2013-03-15 16:22:36" "SEQ" "DNA" "" "" "0000374175" "00372941" "1" "00085" "00085" "2012-06-07 13:42:09" "" "" "PCR;SEQ" "DNA" "" "" "0000374176" "00372942" "1" "00085" "00085" "2012-06-07 13:55:44" "" "" "PCR;SEQ" "DNA" "" "" "0000374177" "00372943" "1" "00085" "00085" "2011-03-02 08:56:01" "00085" "2014-09-30 10:33:19" "PCR;SEQ" "DNA" "" "" "0000374178" "00372944" "1" "00085" "00085" "2016-07-28 09:14:34" "" "" "PCR;SEQ" "DNA" "" "" "0000374179" "00372945" "1" "00085" "00085" "2016-07-28 09:24:33" "00085" "2019-04-12 15:27:29" "PCR;SEQ" "DNA" "" "" "0000374180" "00372946" "1" "00085" "00085" "2017-02-08 12:57:33" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000374181" "00372947" "1" "00085" "00085" "2011-11-28 08:51:27" "" "" "PCR;SEQ" "DNA" "" "" "0000374182" "00372948" "1" "00085" "00085" "2019-08-14 14:42:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374183" "00372949" "1" "00085" "00085" "2012-06-07 14:20:40" "" "" "PCR;SEQ" "DNA" "" "" "0000374184" "00372950" "1" "00085" "00085" "2016-07-28 10:38:45" "00085" "2016-07-28 11:26:44" "PCR;SEQ" "DNA" "" "" "0000374185" "00372951" "1" "03893" "03893" "2018-04-17 11:52:21" "" "" "SEQ" "DNA" "" "" "0000374186" "00372952" "1" "00085" "00085" "2014-08-05 13:31:14" "00085" "2014-08-05 14:00:12" "PCRm;SEQ" "DNA" "" "" "0000374187" "00372953" "1" "00085" "00085" "2016-07-28 11:00:14" "00085" "2016-07-28 11:27:12" "PCR;SEQ" "DNA" "" "" "0000374188" "00372954" "1" "00085" "00085" "2016-07-28 11:13:45" "00085" "2016-07-28 11:27:36" "PCR;SEQ" "DNA" "" "" "0000374189" "00372955" "1" "00085" "00085" "2015-04-14 14:33:47" "" "" "PCR;SEQ" "DNA" "" "" "0000374190" "00372956" "1" "00085" "00085" "2014-08-18 16:14:40" "00085" "2014-08-18 16:15:59" "PCR;SEQ" "DNA" "" "" "0000374191" "00372957" "1" "00085" "00085" "2016-07-28 11:24:08" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374192" "00372958" "1" "00085" "00085" "2019-08-16 10:42:51" "00085" "2019-08-29 08:49:20" "SEQ-NG" "DNA" "" "custom gene panel" "0000374193" "00372959" "1" "00085" "00085" "2019-09-02 14:29:44" "" "" "SEQ" "DNA" "" "" "0000374194" "00372960" "1" "00085" "00085" "2019-09-02 14:37:18" "" "" "SEQ" "DNA" "" "" "0000374195" "00372961" "1" "00085" "00085" "2019-09-02 14:40:10" "" "" "SEQ" "DNA" "" "" "0000374196" "00372962" "1" "00085" "00085" "2019-08-19 14:23:42" "" "" "SEQ" "DNA" "" "" "0000374197" "00372963" "1" "03864" "03864" "2012-12-31 13:53:05" "00085" "2013-04-26 13:00:16" "SEQ" "DNA" "" "" "0000374198" "00372964" "1" "03864" "03864" "2012-12-31 13:56:19" "00085" "2013-04-26 13:02:03" "SEQ" "DNA" "" "" "0000374199" "00372965" "1" "03893" "03893" "2018-04-17 11:55:29" "" "" "SEQ" "DNA" "" "" "0000374200" "00372966" "1" "03893" "03893" "2018-04-17 12:23:32" "" "" "SEQ" "DNA" "" "" "0000374201" "00372967" "1" "00085" "00085" "2012-11-13 10:08:43" "" "" "PCR;SEQ" "DNA" "" "" "0000374202" "00372968" "1" "00085" "00085" "2011-03-02 08:46:56" "00085" "2014-09-30 10:37:04" "PCR;SEQ" "DNA" "" "" "0000374203" "00372969" "1" "03864" "03864" "2012-12-31 13:40:58" "00085" "2013-04-26 13:09:42" "SEQ" "DNA" "" "" "0000374204" "00372970" "1" "00085" "00085" "2017-03-17 08:09:45" "" "" "PCR;SEQ" "DNA" "" "" "0000374205" "00372971" "1" "00085" "00085" "2016-02-16 10:22:54" "" "" "SEQ" "DNA" "" "" "0000374206" "00372972" "1" "00085" "00085" "2016-02-16 10:30:17" "" "" "SEQ" "DNA" "" "" "0000374207" "00372973" "1" "00085" "00085" "2014-08-18 16:18:20" "" "" "PCR;SEQ" "DNA" "" "" "0000374208" "00372974" "1" "00085" "00085" "2012-06-07 13:59:17" "" "" "PCR;SEQ" "DNA" "" "" "0000374209" "00372975" "1" "00085" "00085" "2015-04-14 14:23:57" "00085" "2015-04-14 14:26:21" "PCR;SEQ" "DNA" "" "" "0000374210" "00372976" "1" "03894" "03894" "2018-09-25 14:14:53" "" "" "PCR;SEQ" "DNA" "" "" "0000374211" "00372977" "1" "00085" "00085" "2019-08-20 11:45:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374212" "00372978" "1" "03894" "03894" "2018-09-25 14:07:34" "" "" "PCR;SEQ" "DNA" "" "" "0000374213" "00372979" "1" "00085" "00085" "2019-08-19 11:11:47" "00085" "2019-08-28 13:45:35" "SEQ" "DNA" "" "WES" "0000374214" "00372980" "1" "00085" "00085" "2018-09-24 13:36:00" "00085" "2018-09-24 14:02:09" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374215" "00372981" "1" "00085" "00085" "2017-03-17 08:52:46" "" "" "PCR;SEQ" "DNA" "" "" "0000374216" "00372982" "1" "00085" "00085" "2017-03-17 10:09:01" "" "" "PCR;SEQ" "DNA" "" "" "0000374217" "00372983" "1" "00085" "00085" "2012-11-13 09:43:28" "" "" "PCR;SEQ" "DNA" "" "" "0000374218" "00372984" "1" "00085" "00085" "2011-03-02 09:02:49" "00085" "2014-09-30 10:34:52" "PCR;SEQ" "DNA" "" "" "0000374219" "00372985" "1" "00085" "00085" "2015-01-19 10:19:01" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374220" "00372986" "1" "00085" "00085" "2015-01-19 10:23:48" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374221" "00372987" "1" "00085" "00085" "2011-11-15 13:40:43" "00085" "2012-06-07 13:26:42" "PCR;SEQ" "DNA" "" "" "0000374222" "00372988" "1" "00085" "00085" "2017-02-07 16:33:38" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000374223" "00372989" "1" "03893" "03893" "2018-04-17 11:40:27" "03893" "2018-04-17 12:42:12" "SEQ" "DNA" "" "" "0000411443" "00410180" "1" "04315" "04315" "2022-05-19 16:01:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000432771" "00431358" "1" "04465" "04465" "2023-02-09 16:58:05" "" "" "SEQ-NG" "DNA" "peripheral blood leukocytes" "Massively parallel sequencing" "0000436569" "00435097" "1" "04465" "04465" "2023-05-09 14:09:55" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing (WES)" "0000468479" "00466815" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468480" "00466816" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468481" "00466817" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468482" "00466818" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468483" "00466819" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 100 "{{screeningid}}" "{{geneid}}" "0000296699" "SERPINF1" "0000301500" "SERPINF1" "0000301501" "SERPINF1" "0000301502" "SERPINF1" "0000301555" "SERPINF1" "0000327628" "SERPINF1" "0000332781" "SERPINF1" "0000332782" "SERPINF1" "0000374148" "SERPINF1" "0000374149" "SERPINF1" "0000374150" "SERPINF1" "0000374151" "SERPINF1" "0000374152" "SERPINF1" "0000374153" "SERPINF1" "0000374154" "SERPINF1" "0000374155" "SERPINF1" "0000374156" "SERPINF1" "0000374157" "SERPINF1" "0000374158" "SERPINF1" "0000374159" "SERPINF1" "0000374160" "SERPINF1" "0000374161" "SERPINF1" "0000374162" "SERPINF1" "0000374163" "SERPINF1" "0000374164" "SERPINF1" "0000374165" "SERPINF1" "0000374166" "SERPINF1" "0000374167" "SERPINF1" "0000374168" "SERPINF1" "0000374169" "SERPINF1" "0000374170" "SERPINF1" "0000374171" "SERPINF1" "0000374172" "SERPINF1" "0000374173" "SERPINF1" "0000374174" "SERPINF1" "0000374175" "SERPINF1" "0000374176" "SERPINF1" "0000374177" "SERPINF1" "0000374178" "SERPINF1" "0000374179" "SERPINF1" "0000374180" "SERPINF1" "0000374181" "SERPINF1" "0000374182" "SERPINF1" "0000374183" "SERPINF1" "0000374184" "SERPINF1" "0000374185" "SERPINF1" "0000374186" "SERPINF1" "0000374187" "SERPINF1" "0000374188" "SERPINF1" "0000374189" "SERPINF1" "0000374190" "SERPINF1" "0000374191" "SERPINF1" "0000374192" "SERPINF1" "0000374193" "SERPINF1" "0000374194" "SERPINF1" "0000374195" "SERPINF1" "0000374196" "SERPINF1" "0000374197" "SERPINF1" "0000374198" "SERPINF1" "0000374199" "SERPINF1" "0000374200" "SERPINF1" "0000374201" "SERPINF1" "0000374202" "SERPINF1" "0000374203" "SERPINF1" "0000374204" "SERPINF1" "0000374205" "SERPINF1" "0000374206" "SERPINF1" "0000374207" "SERPINF1" "0000374208" "SERPINF1" "0000374209" "SERPINF1" "0000374210" "SERPINF1" "0000374211" "SERPINF1" "0000374212" "SERPINF1" "0000374213" "SERPINF1" "0000374214" "SERPINF1" "0000374215" "SERPINF1" "0000374216" "SERPINF1" "0000374217" "SERPINF1" "0000374218" "SERPINF1" "0000374219" "SERPINF1" "0000374220" "SERPINF1" "0000374221" "SERPINF1" "0000374222" "SERPINF1" "0000374223" "SERPINF1" "0000411443" "SERPINF1" "0000432771" "BMP1" "0000432771" "COL1A1" "0000432771" "COL1A2" "0000432771" "CREB3L1" "0000432771" "CRTAP" "0000432771" "FKBP10" "0000432771" "IFITM5" "0000432771" "P3H1" "0000432771" "PLOD2" "0000432771" "PPIB" "0000432771" "SERPINF1" "0000432771" "SERPINH1" "0000432771" "SP7" "0000432771" "TMEM38B" "0000432771" "WNT1" ## 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 = 157 "{{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}}" "0000250231" "0" "10" "17" "1678338" "1678338" "subst" "0.0830687" "02329" "SERPINF1_000077" "g.1678338A>T" "" "" "" "SERPINF1(NM_002615.7):c.644-14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1775044A>T" "" "benign" "" "0000298122" "0" "10" "17" "1673276" "1673276" "subst" "0.608041" "02325" "SERPINF1_000040" "g.1673276C>T" "" "" "" "SERPINF1(NM_002615.7):c.215C>T (p.T72M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1769982C>T" "" "benign" "" "0000299404" "0" "10" "17" "1673276" "1673276" "subst" "0.608041" "02329" "SERPINF1_000040" "g.1673276C>T" "" "" "" "SERPINF1(NM_002615.7):c.215C>T (p.T72M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1769982C>T" "" "benign" "" "0000299406" "0" "10" "17" "1674429" "1674429" "subst" "0.327882" "02329" "SERPINF1_000043" "g.1674429T>C" "" "" "" "SERPINF1(NM_002615.7):c.390T>C (p.T130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1771135T>C" "" "benign" "" "0000299407" "0" "30" "17" "1674431" "1674431" "subst" "0.000556386" "02329" "SERPINF1_000025" "g.1674431C>A" "" "" "" "SERPINF1(NM_002615.7):c.392C>A (p.(Ala131Asp), p.A131D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1771137C>A" "" "likely benign" "" "0000299408" "0" "10" "17" "1674434" "1674434" "subst" "0.0212083" "02329" "SERPINF1_000073" "g.1674434C>G" "" "" "" "SERPINF1(NM_002615.7):c.395C>G (p.P132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1771140C>G" "" "benign" "" "0000299409" "0" "10" "17" "1675377" "1675377" "subst" "0.00160063" "02329" "SERPINF1_000075" "g.1675377C>T" "" "" "" "SERPINF1(NM_002615.7):c.643+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1772083C>T" "" "benign" "" "0000299410" "0" "10" "17" "1675378" "1675378" "subst" "0.0773461" "02329" "SERPINF1_000076" "g.1675378G>A" "" "" "" "SERPINF1(NM_002615.7):c.643+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1772084G>A" "" "benign" "" "0000299411" "0" "10" "17" "1673132" "1673132" "subst" "0.00291128" "02329" "SERPINF1_000071" "g.1673132C>T" "" "" "" "SERPINF1(NM_002615.7):c.85-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1769838C>T" "" "benign" "" "0000299412" "0" "10" "17" "1680002" "1680002" "subst" "0.730844" "02329" "SERPINF1_000042" "g.1680002T>C" "" "" "" "SERPINF1(NM_002615.7):c.963T>C (p.Y321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1776708T>C" "" "benign" "" "0000325098" "0" "50" "17" "1675172" "1675172" "subst" "0.000273543" "01804" "SERPINF1_000074" "g.1675172G>A" "" "" "" "SERPINF1(NM_002615.5):c.446G>A (p.(Arg149His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1771878G>A" "" "VUS" "" "0000560417" "0" "30" "17" "1673212" "1673212" "subst" "0.00152276" "02329" "SERPINF1_000079" "g.1673212G>A" "" "" "" "SERPINF1(NM_001329903.1):c.151G>A (p.(Val51Met)), SERPINF1(NM_002615.7):c.151G>A (p.V51M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1769918G>A" "" "likely benign" "" "0000560418" "0" "30" "17" "1673263" "1673263" "subst" "0.00203455" "01804" "SERPINF1_000080" "g.1673263G>C" "" "" "" "SERPINF1(NM_002615.5):c.202G>C (p.(Val68Leu)), SERPINF1(NM_002615.7):c.202G>C (p.V68L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1769969G>C" "" "likely benign" "" "0000560419" "0" "30" "17" "1673263" "1673263" "subst" "0.00203455" "02329" "SERPINF1_000080" "g.1673263G>C" "" "" "" "SERPINF1(NM_002615.5):c.202G>C (p.(Val68Leu)), SERPINF1(NM_002615.7):c.202G>C (p.V68L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1769969G>C" "" "likely benign" "" "0000560420" "0" "90" "17" "1673324" "1673328" "dup" "0" "02329" "SERPINF1_000081" "g.1673324_1673328dup" "" "" "" "SERPINF1(NM_002615.7):c.263_267dupCCCTC (p.S90Pfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1770030_1770034dup" "" "pathogenic" "" "0000623623" "0" "10" "17" "1665424" "1665424" "subst" "0" "02329" "SERPINF1_000083" "g.1665424G>A" "" "" "" "SERPINF1(NM_002615.7):c.-9+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1762130G>A" "" "benign" "" "0000623624" "0" "50" "17" "1679865" "1679865" "subst" "0.000239576" "01943" "SERPINF1_000084" "g.1679865T>A" "" "" "" "SERPINF1(NM_002615.6):c.826T>A (p.F276I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1776571T>A" "" "VUS" "" "0000649502" "1" "30" "17" "1665330" "1665330" "subst" "0" "03575" "SERPINF1_000085" "g.1665330C>A" "85/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "85 heterozygous; {DB:CLININrs9913583}" "Germline" "" "rs9913583" "0" "" "" "g.1762036C>A" "" "likely benign" "" "0000653392" "0" "90" "17" "1674436" "1674436" "subst" "0" "03566" "SERPINF1_000034" "g.1674436C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1771142C>T" "" "pathogenic" "" "0000664450" "1" "90" "17" "1673332" "1673340" "dup" "0" "00006" "SERPINF1_000007" "g.1673332_1673340dup" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "271_279dupGCCCTCTCG" "" "Germline" "" "" "0" "" "" "g.1770038_1770046dup" "" "pathogenic (recessive)" "" "0000664451" "1" "90" "17" "1673345" "1673345" "subst" "0" "00006" "SERPINF1_000030" "g.1673345G>T" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.1770051G>T" "" "pathogenic (recessive)" "" "0000664452" "3" "90" "17" "1680685" "1680686" "del" "0" "00006" "SERPINF1_000032" "g.1680685_1680686del" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "1202_1203delAC" "" "Germline" "" "" "0" "" "" "g.1777391_1777392del" "" "pathogenic (recessive)" "" "0000664459" "2" "90" "17" "1673245" "1673245" "subst" "8.12203E-6" "00006" "SERPINF1_000033" "g.1673245G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.1769951G>A" "" "pathogenic (recessive)" "" "0000664460" "2" "90" "17" "1675224" "1675225" "del" "0" "00006" "SERPINF1_000031" "g.1675224_1675225del" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "498_499delCA" "" "Germline" "" "" "0" "" "" "g.1771930_1771931del" "" "pathogenic (recessive)" "" "0000664513" "3" "90" "17" "1673332" "1673340" "dup" "0" "00006" "SERPINF1_000007" "g.1673332_1673340dup" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "271_279dupGCCCTCTCG" "" "Germline" "" "" "0" "" "" "g.1770038_1770046dup" "" "pathogenic (recessive)" "" "0000669385" "3" "30" "17" "1665330" "1665330" "subst" "0" "03575" "SERPINF1_000085" "g.1665330C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs9913583}" "Germline" "" "rs9913583" "0" "" "" "g.1762036C>A" "" "likely benign" "" "0000692269" "0" "30" "17" "1673228" "1673228" "subst" "0.00067004" "01943" "SERPINF1_000023" "g.1673228C>G" "" "" "" "SERPINF1(NM_001329903.1):c.167C>G (p.(Ala56Gly)), SERPINF1(NM_002615.6):c.167C>G (p.A56G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000711407" "3" "70" "17" "1680558" "1680558" "del" "0" "01164" "SERPINF1_000086" "g.1680558del" "" "" "" "" "ACMG: Class 4 (PVS1_STR, PM2, PM3_SUP)" "Germline" "?" "" "0" "" "" "g.1777264del" "" "likely pathogenic (recessive)" "ACMG" "0000726194" "0" "30" "17" "1670303" "1670303" "subst" "3.40479E-5" "02329" "SERPINF1_000087" "g.1670303G>A" "" "" "" "SERPINF1(NM_002615.7):c.84+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726195" "0" "30" "17" "1673303" "1673303" "subst" "0.000986962" "01943" "SERPINF1_000029" "g.1673303C>G" "" "" "" "SERPINF1(NM_002615.6):c.242C>G (p.S81C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726196" "0" "30" "17" "1679724" "1679724" "subst" "0" "02329" "SERPINF1_000088" "g.1679724A>C" "" "" "" "SERPINF1(NM_002615.7):c.787-102A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730063" "3" "90" "17" "1678361" "1678361" "del" "0" "00000" "SERPINF1_000012" "g.1678361del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_002615.5:c.653delT:p.(Val218Glufs*22)" "" "Germline" "" "" "0" "" "" "g.1775067del" "" "pathogenic (recessive)" "" "0000730064" "3" "90" "17" "1678361" "1678361" "del" "0" "00000" "SERPINF1_000012" "g.1678361del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_002615.5:c.653delT:p.(Val218Glufs*22)" "" "Germline" "" "" "0" "" "" "g.1775067del" "" "pathogenic (recessive)" "" "0000763385" "3" "90" "17" "1679877" "1679878" "del" "0" "03219" "SERPINF1_000058" "g.1679877_1679878del" "" "" "" "838_839delCT" "" "Germline" "" "" "0" "" "" "g.1776583_1776584del" "" "pathogenic" "ACMG" "0000784868" "0" "99" "17" "1665409" "1665409" "dup" "0" "00085" "SERPINF1_000011" "g.1665409dup" "" "{PMID:Shaheen 2012:23054245}" "" "" "The variant in this patient is incorrectly described as c.1-4796dupT in {PMID23054245:Shaheen et al., 2012}." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784869" "3" "99" "17" "1670205" "1670205" "subst" "0" "03894" "SERPINF1_000048" "g.1670205A>G" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784870" "21" "33" "17" "1670222" "1670222" "subst" "4.81301E-5" "00085" "SERPINF1_000069" "g.1670222A>G" "" "{PMID:Barbirato 2016:27706701}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000784871" "21" "33" "17" "1670225" "1670225" "subst" "0" "00085" "SERPINF1_000070" "g.1670225C>A" "" "{PMID:Barbirato 2016:27706701}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000784872" "11" "99" "17" "1670276" "1670276" "dup" "3.27822E-5" "00085" "SERPINF1_000015" "g.1670276dup" "" "{PMID:Cho 2013:23853499}" "" "c.72dupC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784873" "3" "99" "17" "1670281" "1670281" "dup" "0" "03894" "SERPINF1_000051" "g.1670281dup" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "c.77dupC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784874" "0" "33" "17" "1670328" "1670328" "subst" "0.00322795" "00085" "SERPINF1_000066" "g.1670328G>A" "" "{PMID:Barbirato 2016:27706701}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000784875" "0" "99" "17" "1673228" "1673228" "subst" "0.00067004" "00085" "SERPINF1_000023" "g.1673228C>G" "" "{PMID:Ziff 2016:27056980}" "" "" "" "Germline" "" "rs76119062" "0" "" "" "" "" "pathogenic" "" "0000784876" "21" "11" "17" "1673228" "1673228" "subst" "0.00067004" "00085" "SERPINF1_000023" "g.1673228C>G" "" "{PMID:Ji 2019:31204718}" "" "" "" "Germline" "" "rs76119062" "0" "" "" "" "" "benign" "" "0000784877" "21" "99" "17" "1673245" "1673245" "subst" "8.12203E-6" "00085" "SERPINF1_000033" "g.1673245G>A" "" "{PMID:Wang 2017:27796462}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784878" "0" "35" "17" "1673276" "1673276" "subst" "0.608041" "03893" "SERPINF1_000040" "g.1673276C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000784879" "3" "55" "17" "1673303" "1673303" "subst" "0.000986962" "01819" "SERPINF1_000029" "g.1673303C>G" "" "{PMID:Essawi 2018:29150909}" "" "" "" "Germline" "" "rs140512665" "0" "" "" "" "" "VUS" "" "0000784880" "21" "99" "17" "1673309" "1673310" "del" "0" "03894" "SERPINF1_000049" "g.1673309_1673310del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784881" "3" "75" "17" "1673311" "1673311" "dup" "0" "00085" "SERPINF1_000059" "g.1673311dup" "" "{PMID:Mrosk 2018:29499418}" "" "c.250dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784882" "21" "99" "17" "1673322" "1673326" "dup" "0" "03894" "SERPINF1_000046" "g.1673322_1673326dup" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784883" "3" "99" "17" "1673322" "1673326" "dup" "0" "03894" "SERPINF1_000046" "g.1673322_1673326dup" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784884" "3" "99" "17" "1673332" "1673340" "dup" "0" "00085" "SERPINF1_000007" "g.1673332_1673340dup" "" "{PMID:Tucker 2012:22528245}" "" "" "homozygous for a missense variant (c.613G>A) in the CTNS gene which results in cystinosis in addition to OI." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784885" "0" "99" "17" "1673332" "1673340" "dup" "0" "00085" "SERPINF1_000007" "g.1673332_1673340dup" "" "{PMID:Rauch 2012:22669302}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784886" "3" "99" "17" "1673332" "1673340" "dup" "0" "00085" "SERPINF1_000007" "g.1673332_1673340dup" "" "{PMID:Rauch 2012:22669302}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784887" "0" "99" "17" "1673332" "1673340" "dup" "0" "00085" "SERPINF1_000007" "g.1673332_1673340dup" "" "{PMID:Rauch 2012:22669302}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784888" "3" "99" "17" "1673332" "1673340" "dup" "0" "00085" "SERPINF1_000007" "g.1673332_1673340dup" "" "{PMID:Wang 2017:27796462}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784889" "10" "99" "17" "1673332" "1673340" "dup" "0" "00085" "SERPINF1_000007" "g.1673332_1673340dup" "" "{PMID:Wang 2017:27796462}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784890" "21" "99" "17" "1673332" "1673340" "dup" "0" "00085" "SERPINF1_000007" "g.1673332_1673340dup" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784891" "3" "99" "17" "1673332" "1673340" "dup" "0" "00085" "SERPINF1_000007" "g.1673332_1673340dup" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784892" "3" "99" "17" "1673332" "1673340" "dup" "0" "03894" "SERPINF1_000007" "g.1673332_1673340dup" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784893" "11" "99" "17" "1673334" "1673345" "del" "0" "00085" "SERPINF1_000035" "g.1673334_1673345del" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784894" "3" "75" "17" "1673338" "1673339" "dup" "0" "00085" "SERPINF1_000057" "g.1673338_1673339dup" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784895" "21" "99" "17" "1673345" "1673345" "subst" "0" "00085" "SERPINF1_000030" "g.1673345G>T" "" "{PMID:Wang 2017:27796462}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784896" "11" "99" "17" "1673829" "1675485" "del" "0" "00085" "SERPINF1_000045" "g.1673829_1675485del" "" "{PMID:Zhang 2018:29512769}" "" "" "The variant in this proband is incorrectly described by the authors as c.283+473_643+104del.; The proband is homozygous for the variant because of uniparental disomy for the paternal allele. The mother does not harbour the variant." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784897" "3" "99" "17" "1674334" "1674334" "subst" "4.06065E-6" "00085" "SERPINF1_000004" "g.1674334C>T" "" "{PMID:Homan 2011:21826736}" "" "" "The published mutation is incorrectly described as ENSG00000132386:g.4130C>T. This patient was previously described as Patient 1 in {PMID11771667:Glorieux et al., 2002} and subsequently as Patient 1 in {PMID22669302:Rauch et al., 2012}. The patients brother (IV-4) is Patient 2 in these two publications. The distantly related affected relative V-1 is Patient 10 in the latter publication." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784898" "0" "99" "17" "1674334" "1674334" "subst" "4.06065E-6" "00085" "SERPINF1_000004" "g.1674334C>T" "" "{PMID:Rauch 2012:22669302}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784899" "3" "99" "17" "1674334" "1674334" "subst" "4.06065E-6" "00085" "SERPINF1_000004" "g.1674334C>T" "" "{PMID:Rauch 2012:22669302}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784900" "3" "99" "17" "1674334" "1674334" "subst" "4.06065E-6" "00085" "SERPINF1_000004" "g.1674334C>T" "" "{PMID:Rauch 2012:22669302}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784901" "3" "99" "17" "1674363" "1674364" "dup" "0" "00085" "SERPINF1_000002" "g.1674363_1674364dup" "" "{PMID:Becker 2011:21353196}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784902" "0" "99" "17" "1674370" "1674370" "subst" "1.62425E-5" "00085" "SERPINF1_000024" "g.1674370G>A" "" "{PMID:Ziff 2016:27056980}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784903" "20" "55" "17" "1674429" "1674429" "subst" "0.327882" "03893" "SERPINF1_000043" "g.1674429T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000784904" "0" "91" "17" "1674431" "1674431" "subst" "0.000556386" "00085" "SERPINF1_000025" "g.1674431C>A" "" "{PMID:Ziff 2016:27056980}" "" "" "" "Germline" "" "rs148005190" "0" "" "" "" "" "pathogenic" "" "0000784905" "21" "99" "17" "1674436" "1674436" "subst" "0" "00085" "SERPINF1_000034" "g.1674436C>T" "" "{PMID:Wang 2017:27796462}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784906" "11" "99" "17" "1674436" "1674436" "subst" "0" "03894" "SERPINF1_000034" "g.1674436C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784907" "21" "99" "17" "1674460" "1674460" "dup" "0" "00085" "SERPINF1_000016" "g.1674460dup" "" "{PMID:Cho 2013:23853499}" "" "c.421dupC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784908" "3" "99" "17" "1674462" "1674462" "del" "0" "00085" "SERPINF1_000006" "g.1674462del" "" "{PMID:Venturi 2011:22113968}" "" "c.423delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784909" "3" "99" "17" "1674512" "1674512" "subst" "0" "00085" "SERPINF1_000052" "g.1674512C>T" "" "{PMID:Jin 2018:30283904}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784910" "3" "99" "17" "1674605" "1675914" "del" "0" "00085" "SERPINF1_000009" "g.1674605_1675914del" "" "{PMID:Rauch 2012:22669302}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784911" "0" "99" "17" "1675126" "1675128" "del" "0" "00085" "SERPINF1_000026" "g.1675126_1675128del" "" "{PMID:Ziff 2016:27056980}" "" "c.440-40_440-38delTCG" "The reported variant in this patient lies in the 5´UTR of an alternative transcript (ENST00000573763.1) which is the major transcript in stapes bone. The deletion (c.-202_-200delTCG) results in altered expression of that transcript." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784912" "0" "51" "17" "1675138" "1675138" "subst" "0.320583" "03893" "SERPINF1_000041" "g.1675138C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000784913" "0" "15" "17" "1675127" "1675127" "subst" "0.724838" "03893" "SERPINF1_000039" "g.1675127C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000784914" "3" "55" "17" "1675127" "1675127" "subst" "0.724838" "03893" "SERPINF1_000039" "g.1675127C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000784915" "3" "99" "17" "1675165" "1675370" "del" "0" "00085" "SERPINF1_000017" "g.(1674479_1675165)_(1675370_1678351)del" "" "{PMID:Rauch 2014:25086671}" "" "c.440-?_643+?del" "" "Germline" "" "" "0" "" "" "g.(1771185_1771871)_(1772076_1775057)del" "" "pathogenic" "" "0000784916" "0" "99" "17" "1675167" "1675167" "subst" "0.000396443" "00085" "SERPINF1_000027" "g.1675167G>C" "" "{PMID:Ziff 2016:27056980}" "" "" "The reported variant in this patient lies in the 5´UTR of an alternative transcript (ENST00000573763.1) which is the major transcript in stapes bone. The substitution (c.-161G>C) results in altered expression of that transcript." "Germline" "" "rs138341386" "0" "" "" "" "" "pathogenic" "" "0000784917" "0" "99" "17" "1675167" "1675167" "subst" "0.000396443" "00085" "SERPINF1_000027" "g.1675167G>C" "" "{PMID:Ziff 2016:27056980}" "" "" "The reported variant in this patient lies in the 5´UTR of an alternative transcript (ENST00000573763.1) which is the major transcript in stapes bone. The substitution (c.-161G>C) results in altered expression of that transcript." "Germline" "" "rs138341386" "0" "" "" "" "" "pathogenic" "" "0000784918" "10" "99" "17" "1675224" "1675225" "del" "0" "00085" "SERPINF1_000031" "g.1675224_1675225del" "" "{PMID:Wang 2017:27796462}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784919" "3" "99" "17" "1675258" "1675258" "subst" "0" "00085" "SERPINF1_000021" "g.1675258C>T" "" "{PMID:Stephen 2015:25450603}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784920" "0" "99" "17" "1675266" "1675266" "dup" "0" "00085" "SERPINF1_000018" "g.1675266dup" "" "{PMID:Al-Jallad 2014:25127091}" "" "c.540dupC" "This variant has been reported in the heterozygous state, but leads to a premature stop codon and is therefore clearly pathogenic." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784921" "0" "99" "17" "1675327" "1675327" "subst" "0.000219407" "00085" "SERPINF1_000028" "g.1675327G>A" "" "{PMID:Ziff 2016:27056980}" "" "" "" "Germline" "" "rs137997656" "0" "" "" "" "" "pathogenic" "" "0000784922" "0" "99" "17" "1675346" "1675346" "subst" "0" "00085" "SERPINF1_000053" "g.1675346T>G" "" "{PMID:Mohd Nawawi 2018:29807018}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784923" "3" "73" "17" "1675451" "1675451" "subst" "0" "00085" "SERPINF1_000067" "g.1675451T>C" "" "{PMID:Barbirato 2016:27706701}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784924" "3" "73" "17" "1675451" "1675451" "subst" "0" "00085" "SERPINF1_000067" "g.1675451T>C" "" "{PMID:Barbirato 2016:27706701}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784925" "3" "73" "17" "1675451" "1675451" "subst" "0" "00085" "SERPINF1_000067" "g.1675451T>C" "" "{PMID:Barbirato 2016:27706701}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784926" "3" "95" "17" "1678356" "1678359" "del" "0" "00085" "SERPINF1_000056" "g.1678356_1678359del" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784927" "3" "99" "17" "1678359" "1678359" "subst" "0" "03864" "SERPINF1_000014" "g.1678359G>A" "" "{PMID:Caparrós-Martin 2013:23613367}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784928" "3" "99" "17" "1678359" "1678359" "subst" "0" "03864" "SERPINF1_000014" "g.1678359G>A" "" "{PMID:Caparrós-Martin 2013:23613367}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784929" "0" "55" "17" "1678359" "1678359" "subst" "0" "03893" "SERPINF1_000014" "g.1678359G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000784930" "0" "95" "17" "1678359" "1678359" "subst" "0" "03893" "SERPINF1_000014" "g.1678359G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784931" "0" "95" "17" "1678359" "1678359" "subst" "0" "03893" "SERPINF1_000014" "g.1678359G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784932" "3" "99" "17" "1678361" "1678361" "del" "0" "00085" "SERPINF1_000012" "g.1678361del" "" "{PMID:Shaheen 2012:23054245}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784933" "3" "99" "17" "1678404" "1678404" "subst" "0" "00085" "SERPINF1_000001" "g.1678404C>G" "" "{PMID:Becker 2011:21353196}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784934" "3" "99" "17" "1678460" "1678461" "delins" "0" "03864" "SERPINF1_000013" "g.1678460_1678461delins[KC847088.1:g.51_393]" "" "{PMID:Caparrós-Martin 2013:23613367}" "" "c.752_c.753insKC847088.1:g.51_393" "" "Germline" "" "" "0" "" "" "g.1775166_1775167ins[KC847088.1:g.51_393]" "" "pathogenic" "" "0000784935" "3" "99" "17" "1679209" "1679209" "subst" "0" "00085" "SERPINF1_000036" "g.1679209G>A" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "The variant, which is incorrectly described as c.786+715G>A, creates an acceptor splice site resulting in a cryptic exon." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784936" "3" "99" "17" "1679816" "1679816" "subst" "0" "00085" "SERPINF1_000022" "g.1679816C>G" "" "{PMID:Ward 2016:26815784}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784937" "3" "99" "17" "1679816" "1679816" "subst" "0" "00085" "SERPINF1_000022" "g.1679816C>G" "" "{PMID:Ward 2016:26815784}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784938" "0" "99" "17" "1679847" "1679847" "subst" "0" "00085" "SERPINF1_000019" "g.1679847G>T" "" "{PMID:Al-Jallad 2014:25127091}" "" "" "This variant has been reported in the heterozygous state, but leads to a premature stop codon and is therefore clearly pathogenic." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784939" "3" "97" "17" "1679868" "1679870" "del" "0" "00085" "SERPINF1_000008" "g.1679868_1679870del" "" "{PMID:Rauch 2012:22669302}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784940" "3" "99" "17" "1679868" "1679870" "del" "0" "00085" "SERPINF1_000008" "g.1679868_1679870del" "" "{PMID:Stephen 2015:25450603}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784941" "3" "99" "17" "1679868" "1679870" "del" "0" "03894" "SERPINF1_000008" "g.1679868_1679870del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784942" "3" "95" "17" "1679877" "1679878" "del" "0" "00085" "SERPINF1_000058" "g.1679877_1679878del" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784943" "11" "99" "17" "1679918" "1679918" "del" "0" "03894" "SERPINF1_000047" "g.1679918del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "c.879delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784944" "3" "99" "17" "1679946" "1679946" "subst" "1.62427E-5" "03894" "SERPINF1_000050" "g.1679946C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784945" "3" "51" "17" "1680002" "1680002" "subst" "0.730844" "03893" "SERPINF1_000042" "g.1680002T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000784946" "11" "99" "17" "1680550" "1680550" "subst" "0" "00085" "SERPINF1_000054" "g.1680550T>A" "" "{PMID:Zhang 2018:29512769}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784947" "11" "99" "17" "1680559" "1680559" "subst" "0" "00085" "SERPINF1_000044" "g.1680559T>A" "" "{PMID:Zhang 2018:29512769}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784948" "3" "99" "17" "1680574" "1680574" "subst" "4.06062E-6" "00085" "SERPINF1_000037" "g.1680574G>A" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784949" "3" "99" "17" "1680574" "1680574" "subst" "4.06062E-6" "00085" "SERPINF1_000037" "g.1680574G>A" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784950" "3" "99" "17" "1680601" "1680602" "del" "0" "00085" "SERPINF1_000010" "g.1680601_1680602del" "" "{PMID:Shaheen 2012:23054245}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784951" "3" "99" "17" "1680615" "1680615" "subst" "0" "00085" "SERPINF1_000003" "g.1680615C>T" "" "{PMID:Becker 2011:21353196}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784952" "3" "99" "17" "1680635" "1680653" "del" "0" "00085" "SERPINF1_000020" "g.1680635_1680653del" "" "{PMID:Minillo 2014:25565926}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784953" "3" "99" "17" "1680635" "1680653" "del" "0" "00085" "SERPINF1_000020" "g.1680635_1680653del" "" "{PMID:Minillo 2014:25565926}" "" "" "The protein-level variant description is incorrectly reported as p.384_390del." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784954" "3" "99" "17" "1680646" "1680649" "dup" "0" "00085" "SERPINF1_000005" "g.1680646_1680649dup" "" "{PMID:Homan 2011:21826736}" "" "" "The published mutation is incorrectly described as ENSG00000132386:g.10440_10443dupATCA" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784955" "3" "99" "17" "1680685" "1680686" "del" "0" "00085" "SERPINF1_000032" "g.1680685_1680686del" "" "{PMID:Wang 2017:27796462}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784956" "0" "95" "17" "1680700" "1680736" "del" "0" "03893" "SERPINF1_000038" "g.1680700_1680736del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000807823" "0" "30" "17" "1675303" "1675303" "subst" "5.6881E-5" "02329" "SERPINF1_000089" "g.1675303G>A" "" "" "" "SERPINF1(NM_002615.7):c.577G>A (p.A193T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854767" "0" "30" "17" "1680466" "1680469" "del" "0" "02329" "SERPINF1_000092" "g.1680466_1680469del" "" "" "" "SERPINF1(NM_002615.7):c.998-15_998-12delTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865090" "0" "10" "17" "1673212" "1673212" "subst" "0.00152276" "01804" "SERPINF1_000079" "g.1673212G>A" "" "" "" "SERPINF1(NM_001329903.1):c.151G>A (p.(Val51Met)), SERPINF1(NM_002615.7):c.151G>A (p.V51M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865091" "0" "30" "17" "1674423" "1674423" "subst" "2.43651E-5" "02329" "SERPINF1_000090" "g.1674423G>A" "" "" "" "SERPINF1(NM_002615.7):c.384G>A (p.T128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865092" "0" "50" "17" "1679941" "1679941" "subst" "0.000353277" "01943" "SERPINF1_000091" "g.1679941T>C" "" "" "" "SERPINF1(NM_002615.5):c.902T>C (p.(Ile301Thr)), SERPINF1(NM_002615.6):c.902T>C (p.I301T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000868565" "3" "90" "17" "1673339" "1673339" "subst" "0" "04315" "SERPINF1_000093" "g.1673339C>A" "" "{PMID:Kuptanon 2022:35703132}, {DOI:Kuptanon 2022:10.1111/cge.14172}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "{CV-SCV:001976359}" "likely pathogenic (recessive)" "ACMG" "0000893361" "0" "30" "17" "1670281" "1670281" "subst" "9.27631E-5" "01804" "SERPINF1_000094" "g.1670281C>G" "" "" "" "SERPINF1(NM_002615.5):c.77C>G (p.(Pro26Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893362" "0" "50" "17" "1673228" "1673228" "subst" "0.00067004" "01804" "SERPINF1_000023" "g.1673228C>G" "" "" "" "SERPINF1(NM_001329903.1):c.167C>G (p.(Ala56Gly)), SERPINF1(NM_002615.6):c.167C>G (p.A56G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893363" "0" "30" "17" "1675375" "1675375" "subst" "0.000183636" "02329" "SERPINF1_000095" "g.1675375C>T" "" "" "" "SERPINF1(NM_002615.7):c.643+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893364" "0" "50" "17" "1678475" "1678475" "subst" "0" "01804" "SERPINF1_000096" "g.1678475A>C" "" "" "" "SERPINF1(NM_002615.5):c.767A>C (p.(Asp256Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893365" "0" "50" "17" "1680571" "1680571" "subst" "1.62425E-5" "01804" "SERPINF1_000097" "g.1680571A>C" "" "" "" "SERPINF1(NM_002615.5):c.1088A>C (p.(Glu363Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918637" "3" "90" "17" "1680635" "1680653" "del" "0" "04465" "SERPINF1_000020" "g.1680635_1680653del" "" "{PMID:Fernandes 2020:32123938}" "" "Phe384Leufs*9" "" "Germline" "" "" "0" "" "" "g.1777341_1777359del" "" "pathogenic (recessive)" "" "0000927587" "3" "90" "17" "1673322" "1673326" "dup" "0" "04465" "SERPINF1_000098" "g.1673322_1673326dup" "" "{PMID:Zhalsanova 2023:37047644}" "" "259_260insCGGCC" "" "Germline" "" "" "0" "" "" "g.1770028_1770032dup" "" "pathogenic (recessive)" "" "0000968696" "0" "30" "17" "1670219" "1670219" "subst" "0.000597292" "02329" "SERPINF1_000099" "g.1670219G>T" "" "" "" "SERPINF1(NM_002615.7):c.15G>T (p.V5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968697" "0" "30" "17" "1674828" "1674828" "subst" "0" "02329" "SERPINF1_000100" "g.1674828G>A" "" "" "" "SERPINF1(NM_002615.7):c.440-338G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968698" "0" "30" "17" "1678467" "1678467" "subst" "9.74627E-5" "02329" "SERPINF1_000101" "g.1678467T>C" "" "" "" "SERPINF1(NM_002615.7):c.759T>C (p.Y253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982331" "0" "30" "17" "1674431" "1674431" "subst" "0.000556386" "01804" "SERPINF1_000025" "g.1674431C>A" "" "" "" "SERPINF1(NM_002615.7):c.392C>A (p.(Ala131Asp), p.A131D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982332" "0" "30" "17" "1674828" "1674828" "subst" "0" "02329" "SERPINF1_000102" "g.1674828G>C" "" "" "" "SERPINF1(NM_002615.7):c.440-338G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982333" "0" "30" "17" "1680008" "1680008" "subst" "0.00106808" "01804" "SERPINF1_000103" "g.1680008C>T" "" "" "" "SERPINF1(NM_002615.7):c.969C>T (p.(Gly323=), p.G323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982334" "0" "30" "17" "1680533" "1680533" "subst" "6.49693E-5" "02329" "SERPINF1_000104" "g.1680533C>T" "" "" "" "SERPINF1(NM_002615.7):c.1050C>T (p.P350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002973" "0" "50" "17" "1679941" "1679941" "subst" "0.000353277" "01804" "SERPINF1_000091" "g.1679941T>C" "" "" "" "SERPINF1(NM_002615.5):c.902T>C (p.(Ile301Thr)), SERPINF1(NM_002615.6):c.902T>C (p.I301T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002974" "0" "30" "17" "1680559" "1680559" "subst" "0.000373577" "01804" "SERPINF1_000105" "g.1680559G>A" "" "" "" "SERPINF1(NM_002615.5):c.1076G>A (p.(Arg359Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002975" "0" "30" "17" "1680562" "1680562" "subst" "7.71511E-5" "01804" "SERPINF1_000106" "g.1680562C>T" "" "" "" "SERPINF1(NM_002615.5):c.1079C>T (p.(Ala360Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015475" "0" "30" "17" "1680008" "1680008" "subst" "0.00106808" "02329" "SERPINF1_000103" "g.1680008C>T" "" "" "" "SERPINF1(NM_002615.7):c.969C>T (p.(Gly323=), p.G323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026817" "0" "30" "17" "1674485" "1674485" "subst" "0.000122193" "02329" "SERPINF1_000107" "g.1674485C>T" "" "" "" "SERPINF1(NM_002615.7):c.439+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041644" "0" "50" "17" "1674375" "1674375" "subst" "4.06062E-6" "01804" "SERPINF1_000108" "g.1674375G>T" "" "" "" "SERPINF1(NM_002615.7):c.336G>T (p.(Leu112Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041645" "0" "50" "17" "1678462" "1678462" "subst" "4.06091E-5" "01804" "SERPINF1_000109" "g.1678462C>T" "" "" "" "SERPINF1(NM_002615.7):c.754C>T (p.(Arg252Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041646" "0" "30" "17" "1679820" "1679820" "subst" "0" "01804" "SERPINF1_000110" "g.1679820T>C" "" "" "" "SERPINF1(NM_002615.7):c.787-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001048313" "3" "70" "17" "1670284" "1670284" "dup" "0" "00006" "SERPINF1_000111" "g.1670284dup" "" "{PMID:Tuysuz 2022:34902613}" "" "80dupA" "ACMG" "Germline" "" "" "0" "" "" "g.1766990dup" "" "likely pathogenic" "" "0001048314" "3" "90" "17" "1673249" "1673249" "dup" "0" "00006" "SERPINF1_000112" "g.1673249dup" "" "{PMID:Tuysuz 2022:34902613}" "" "188dupA" "ACMG BS1, BS2, BP4" "Germline" "" "" "0" "" "" "g.1769955dup" "" "pathogenic" "" "0001048315" "3" "50" "17" "1675346" "1675346" "subst" "0" "00006" "SERPINF1_000053" "g.1675346T>G" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.1772052T>G" "" "VUS" "" "0001048316" "3" "70" "17" "1675347" "1675349" "del" "0" "00006" "SERPINF1_000113" "g.1675347_1675349del" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM2, PP3, PM6" "Germline" "" "" "0" "" "" "g.1772053_1772055del" "VCV000684741.1" "likely pathogenic" "" "0001048317" "3" "50" "17" "1678438" "1678440" "del" "0" "00006" "SERPINF1_000114" "g.1678438_1678440del" "" "{PMID:Tuysuz 2022:34902613}" "" "730_732delATG" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.1775144_1775146del" "" "VUS" "" "0001055773" "0" "30" "17" "1674315" "1674315" "subst" "0" "01804" "SERPINF1_000115" "g.1674315T>A" "" "" "" "SERPINF1(NM_002615.7):c.284-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SERPINF1 ## Count = 157 "{{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}}" "0000250231" "00018728" "10" "644" "-14" "644" "-14" "c.644-14A>T" "r.(=)" "p.(=)" "" "0000298122" "00018728" "10" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Thr72Met)" "" "0000299404" "00018728" "10" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Thr72Met)" "" "0000299406" "00018728" "10" "390" "0" "390" "0" "c.390T>C" "r.(?)" "p.(Thr130=)" "" "0000299407" "00018728" "30" "392" "0" "392" "0" "c.392C>A" "r.(?)" "p.(Ala131Asp)" "" "0000299408" "00018728" "10" "395" "0" "395" "0" "c.395C>G" "r.(?)" "p.(Pro132Arg)" "" "0000299409" "00018728" "10" "643" "8" "643" "8" "c.643+8C>T" "r.(=)" "p.(=)" "" "0000299410" "00018728" "10" "643" "9" "643" "9" "c.643+9G>A" "r.(=)" "p.(=)" "" "0000299411" "00018728" "10" "85" "-14" "85" "-14" "c.85-14C>T" "r.(=)" "p.(=)" "" "0000299412" "00018728" "10" "963" "0" "963" "0" "c.963T>C" "r.(?)" "p.(Tyr321=)" "" "0000325098" "00018728" "50" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Arg149His)" "" "0000560417" "00018728" "30" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Val51Met)" "" "0000560418" "00018728" "30" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Val68Leu)" "" "0000560419" "00018728" "30" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Val68Leu)" "" "0000560420" "00018728" "90" "263" "0" "267" "0" "c.263_267dup" "r.(?)" "p.(Ser90ProfsTer25)" "" "0000623623" "00018728" "10" "-9" "17" "-9" "17" "c.-9+17G>A" "r.(=)" "p.(=)" "" "0000623624" "00018728" "50" "826" "0" "826" "0" "c.826T>A" "r.(?)" "p.(Phe276Ile)" "" "0000649502" "00018728" "30" "-86" "0" "-86" "0" "c.-86C>A" "r.(=)" "p.(=)" "" "0000653392" "00018728" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133*)" "" "0000664450" "00018728" "90" "271" "0" "279" "0" "c.271_279dup" "r.(?)" "p.(Ala91_Ser93dup)" "3" "0000664451" "00018728" "90" "283" "1" "283" "1" "c.283+1G>T" "r.spl" "p.?" "3i" "0000664452" "00018728" "90" "1202" "0" "1203" "0" "c.1202_1203del" "r.(?)" "p.(Thr401Argfs*?)" "8" "0000664459" "00018728" "90" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Gly62Ser)" "3" "0000664460" "00018728" "90" "498" "0" "499" "0" "c.498_499del" "r.(?)" "p.(Arg167Serfs*35)" "5" "0000664513" "00018728" "90" "271" "0" "279" "0" "c.271_279dup" "r.(?)" "p.(Ala91_Ser93dup)" "3" "0000669385" "00018728" "30" "-86" "0" "-86" "0" "c.-86C>A" "r.(=)" "p.(=)" "" "0000692269" "00018728" "30" "167" "0" "167" "0" "c.167C>G" "r.(?)" "p.(Ala56Gly)" "" "0000711407" "00018728" "70" "1075" "0" "1075" "0" "c.1075del" "r.(?)" "p.(Arg359Glyfs*40)" "" "0000726194" "00018728" "30" "84" "15" "84" "15" "c.84+15G>A" "r.(=)" "p.(=)" "" "0000726195" "00018728" "30" "242" "0" "242" "0" "c.242C>G" "r.(?)" "p.(Ser81Cys)" "" "0000726196" "00018728" "30" "787" "-102" "787" "-102" "c.787-102A>C" "r.(=)" "p.(=)" "" "0000730063" "00018728" "90" "653" "0" "653" "0" "c.653del" "r.(?)" "p.(Val218Glufs*22)" "" "0000730064" "00018728" "90" "653" "0" "653" "0" "c.653del" "r.(?)" "p.(Val218Glufs*22)" "" "0000763385" "00018728" "90" "838" "0" "839" "0" "c.838_839del" "r.(?)" "p.(Leu280Glufs*20)" "" "0000784868" "00018728" "99" "-9" "2" "-9" "2" "c.-9+2dup" "r.spl" "p.?" "1i" "0000784869" "00018728" "99" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "2" "0000784870" "00018728" "33" "18" "0" "18" "0" "c.18A>G" "r.(?)" "(p.Leu6=)" "2" "0000784871" "00018728" "33" "21" "0" "21" "0" "c.21C>A" "r.(?)" "(p.Leu7=)" "2" "0000784872" "00018728" "99" "72" "0" "72" "0" "c.72dup" "r.(?)" "p.(Glu27Glyfs*38)" "2" "0000784873" "00018728" "99" "77" "0" "77" "0" "c.77dup" "r.(?)" "p.(Glu27Glyfs*38)" "2" "0000784874" "00018728" "33" "84" "40" "84" "40" "c.84+40G>A" "r.(?)" "p.(=)" "2i" "0000784875" "00018728" "99" "167" "0" "167" "0" "c.167C>G" "r.(?)" "p.(Ala56Gly)" "3" "0000784876" "00018728" "11" "167" "0" "167" "0" "c.167C>G" "r.(?)" "p.(Ala56Gly)" "3" "0000784877" "00018728" "99" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Gly62Ser)" "3" "0000784878" "00018728" "35" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.Thr72Met" "3" "0000784879" "00018728" "55" "242" "0" "242" "0" "c.242C>G" "r.(?)" "p.(Ser81Cys)" "3" "0000784880" "00018728" "99" "248" "0" "249" "0" "c.248_249del" "r.(?)" "p.(Leu83Glnfs*28)" "3" "0000784881" "00018728" "75" "250" "0" "250" "0" "c.250dup" "r.(?)" "p.(Ser84Lysfs*28)" "3" "0000784882" "00018728" "99" "261" "0" "265" "0" "c.261_265dup" "r.(?)" "p.(Leu89Argfs*26)" "3" "0000784883" "00018728" "99" "261" "0" "265" "0" "c.261_265dup" "r.(?)" "p.(Leu89Argfs*26)" "3" "0000784884" "00018728" "99" "271" "0" "279" "0" "c.271_279dup" "r.(?)" "p.(Ala91_Ser93dup)" "3" "0000784885" "00018728" "99" "271" "0" "279" "0" "c.271_279dup" "r.(?)" "p.(Ala91_Ser93dup)" "3" "0000784886" "00018728" "99" "271" "0" "279" "0" "c.271_279dup" "r.(?)" "p.(Ala91_Ser93dup)" "3" "0000784887" "00018728" "99" "271" "0" "279" "0" "c.271_279dup" "r.(?)" "p.(Ala91_Ser93dup)" "3" "0000784888" "00018728" "99" "271" "0" "279" "0" "c.271_279dup" "r.(?)" "p.(Ala91_Ser93dup)" "3" "0000784889" "00018728" "99" "271" "0" "279" "0" "c.271_279dup" "r.(?)" "p.(Ala91_Ser93dup)" "3" "0000784890" "00018728" "99" "271" "0" "279" "0" "c.271_279dup" "r.(?)" "p.(Ala91_Ser93dup)" "3" "0000784891" "00018728" "99" "271" "0" "279" "0" "c.271_279dup" "r.(?)" "p.(Ala91_Ser93dup)" "3" "0000784892" "00018728" "99" "271" "0" "279" "0" "c.271_279dup" "r.(?)" "p.(Ala91_Ser93dup)" "3" "0000784893" "00018728" "99" "273" "0" "283" "1" "c.273_283+1del" "r.spl" "p.?" "3_3i" "0000784894" "00018728" "75" "277" "0" "278" "0" "c.277_278dup" "r.(?)" "p.(Leu94Argfs*20)" "3" "0000784895" "00018728" "99" "283" "1" "283" "1" "c.283+1G>T" "r.spl" "p.?" "3i" "0000784896" "00018728" "99" "283" "485" "643" "116" "c.283+485_643+116del" "r.spl" "p.(Ala96_Gly215del)" "3i_5i" "0000784897" "00018728" "99" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99*)" "4" "0000784898" "00018728" "99" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99*)" "4" "0000784899" "00018728" "99" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99*)" "4" "0000784900" "00018728" "99" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99*)" "4" "0000784901" "00018728" "99" "324" "0" "325" "0" "c.324_325dup" "r.(?)" "p.(Tyr109Serfs*5)" "4" "0000784902" "00018728" "99" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Asp111Asn)" "4" "0000784903" "00018728" "55" "390" "0" "390" "0" "c.390T>C" "r.(?)" "p.Thr130=" "4" "0000784904" "00018728" "91" "392" "0" "392" "0" "c.392C>A" "r.(?)" "p.(Ala131Asp)" "4" "0000784905" "00018728" "99" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133*)" "4" "0000784906" "00018728" "99" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133*)" "4" "0000784907" "00018728" "99" "421" "0" "421" "0" "c.421dup" "r.(?)" "p.(Arg141Profs*5)" "4" "0000784908" "00018728" "99" "423" "0" "423" "0" "c.423del" "r.(?)" "p.(Ile142Serfs*9)" "4" "0000784909" "00018728" "99" "439" "34" "439" "34" "c.439+34C>T" "r.spl" "p.?" "4i" "0000784910" "00018728" "99" "439" "127" "643" "545" "c.439+127_643+545del" "r.spl" "p.Lys147_Gly215delinsArg" "4i" "0000784911" "00018728" "99" "440" "-40" "440" "-38" "c.440-40_440-38del" "r.spl" "p.?" "4i" "0000784912" "00018728" "51" "440" "-28" "440" "-28" "c.440-28C>T" "r.(?)" "p.(=)" "4i" "0000784913" "00018728" "15" "440" "-39" "440" "-39" "c.440-39C>T" "r.(?)" "p.(=)" "4i" "0000784914" "00018728" "55" "440" "-39" "440" "-39" "c.440-39C>T" "r.(?)" "p.(=)" "4i" "0000784915" "00018728" "99" "440" "-1" "643" "1" "c.(439+1_440-1)_(643+1_644-1)del" "r.(?)" "p.(Lys147_Gly215delinsArg)" "5" "0000784916" "00018728" "99" "441" "0" "441" "0" "c.441G>C" "r.(?)" "p.(Lys147Asn)" "5" "0000784917" "00018728" "99" "441" "0" "441" "0" "c.441G>C" "r.(?)" "p.(Lys147Asn)" "5" "0000784918" "00018728" "99" "498" "0" "499" "0" "c.498_499del" "r.(?)" "p.(Arg167Serfs*35)" "5" "0000784919" "00018728" "99" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Gln178*)" "5" "0000784920" "00018728" "99" "540" "0" "540" "0" "c.540dup" "r.(?)" "p.(Asn181Glnfs*22)" "5" "0000784921" "00018728" "99" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Asp201Asn)" "5" "0000784922" "00018728" "99" "620" "0" "620" "0" "c.620T>G" "r.(?)" "p.(Leu20Arg)" "5" "0000784923" "00018728" "73" "643" "82" "643" "82" "c.643+82T>C" "r.spl" "p.?" "5i" "0000784924" "00018728" "73" "643" "82" "643" "82" "c.643+82T>C" "r.spl" "p.?" "5i" "0000784925" "00018728" "73" "643" "82" "643" "82" "c.643+82T>C" "r.spl" "p.?" "5i" "0000784926" "00018728" "95" "648" "0" "651" "0" "c.648_651del" "r.(?)" "p.(Trp217*)" "6" "0000784927" "00018728" "99" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Trp217*)" "6" "0000784928" "00018728" "99" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Trp217*)" "6" "0000784929" "00018728" "55" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Trp217*)" "6" "0000784930" "00018728" "95" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Trp217*)" "6" "0000784931" "00018728" "95" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Trp217*)" "6" "0000784932" "00018728" "99" "653" "0" "653" "0" "c.653del" "r.(?)" "p.(Val218Glufs*22)" "6" "0000784933" "00018728" "99" "696" "0" "696" "0" "c.696C>G" "r.(?)" "p.(Tyr232*)" "6" "0000784934" "00018728" "99" "752" "0" "753" "0" "c.752_753ins[KC847088.1:g.51_393]" "r.?" "p.?" "6" "0000784935" "00018728" "99" "787" "-617" "787" "-617" "c.787-617G>A" "r.spl" "p.?" "6i" "0000784936" "00018728" "99" "787" "-10" "787" "-10" "c.787-10C>G" "r.spl" "p.Lys262Ile263insLeuSerGln" "6i" "0000784937" "00018728" "99" "787" "-10" "787" "-10" "c.787-10C>G" "r.spl" "p.Lys262Ile263insLeuSerGln" "6i" "0000784938" "00018728" "99" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Gly270*)" "7" "0000784939" "00018728" "97" "829" "0" "831" "0" "c.829_831del" "r.(?)" "p.(Phe277del)" "7" "0000784940" "00018728" "99" "829" "0" "831" "0" "c.829_831del" "r.(?)" "p.(Phe277del)" "7" "0000784941" "00018728" "99" "829" "0" "831" "0" "c.829_831del" "r.(?)" "p.(Phe277del)" "7" "0000784942" "00018728" "95" "838" "0" "839" "0" "c.838_839del" "r.(?)" "p.(Leu280Glufs*20)" "7" "0000784943" "00018728" "99" "879" "0" "879" "0" "c.879del" "r.(?)" "p.(Thr294Profs*8)" "7" "0000784944" "00018728" "99" "907" "0" "907" "0" "c.907C>T" "r.(?)" "p.(Arg303*)" "7" "0000784945" "00018728" "51" "963" "0" "963" "0" "c.963T>C" "r.(?)" "p.(=)" "7" "0000784946" "00018728" "99" "1067" "0" "1067" "0" "c.1067T>A" "r.(?)" "p.(Val356Glu)" "8" "0000784947" "00018728" "99" "1076" "0" "1076" "0" "c.1076T>A" "r.(?)" "p.(Val356Glu)" "8" "0000784948" "00018728" "99" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Trp364*)" "8" "0000784949" "00018728" "99" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Trp364*)" "8" "0000784950" "00018728" "99" "1118" "0" "1119" "0" "c.1118_1119del" "r.(?)" "p.(Pro373Glnfs*18)" "8" "0000784951" "00018728" "99" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "8" "0000784952" "00018728" "99" "1152" "0" "1170" "0" "c.1152_1170del" "r.(?)" "p.(Phe384Leufs*9)" "8" "0000784953" "00018728" "99" "1152" "0" "1170" "0" "c.1152_1170del" "r.(?)" "p.(Phe384Leufs*9)" "8" "0000784954" "00018728" "99" "1163" "0" "1166" "0" "c.1163_1166dup" "r.(?)" "p.(His389Glnfs*4)" "8" "0000784955" "00018728" "99" "1202" "0" "1203" "0" "c.1202_1203del" "r.(?)" "p.(Thr401Argfs*28)" "8" "0000784956" "00018728" "95" "1217" "0" "1253" "0" "c.1217_1253del" "r.(?)" "p.(Leu406Profs*6)" "8" "0000807823" "00018728" "30" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Ala193Thr)" "" "0000854767" "00018728" "30" "998" "-15" "998" "-12" "c.998-15_998-12del" "r.(=)" "p.(=)" "" "0000865090" "00018728" "10" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Val51Met)" "" "0000865091" "00018728" "30" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(Thr128=)" "" "0000865092" "00018728" "50" "902" "0" "902" "0" "c.902T>C" "r.(?)" "p.(Ile301Thr)" "" "0000868565" "00018728" "90" "278" "0" "278" "0" "c.278C>A" "r.(?)" "p.(Ser93*)" "" "0000893361" "00018728" "30" "77" "0" "77" "0" "c.77C>G" "r.(?)" "p.(Pro26Arg)" "" "0000893362" "00018728" "50" "167" "0" "167" "0" "c.167C>G" "r.(?)" "p.(Ala56Gly)" "" "0000893363" "00018728" "30" "643" "6" "643" "6" "c.643+6C>T" "r.(=)" "p.(=)" "" "0000893364" "00018728" "50" "767" "0" "767" "0" "c.767A>C" "r.(?)" "p.(Asp256Ala)" "" "0000893365" "00018728" "50" "1088" "0" "1088" "0" "c.1088A>C" "r.(?)" "p.(Glu363Ala)" "" "0000918637" "00018728" "90" "1152" "0" "1170" "0" "c.1152_1170del" "r.(?)" "p.(Phe384Leufs*9)" "" "0000927587" "00018728" "90" "261" "0" "265" "0" "c.261_265dup" "r.(?)" "p.(Leu89Argfs*26)" "" "0000968696" "00018728" "30" "15" "0" "15" "0" "c.15G>T" "r.(?)" "p.(=)" "" "0000968697" "00018728" "30" "440" "-338" "440" "-338" "c.440-338G>A" "r.(=)" "p.(=)" "" "0000968698" "00018728" "30" "759" "0" "759" "0" "c.759T>C" "r.(?)" "p.(=)" "" "0000982331" "00018728" "30" "392" "0" "392" "0" "c.392C>A" "r.(?)" "p.(Ala131Asp)" "" "0000982332" "00018728" "30" "440" "-338" "440" "-338" "c.440-338G>C" "r.(=)" "p.(=)" "" "0000982333" "00018728" "30" "969" "0" "969" "0" "c.969C>T" "r.(?)" "p.(=)" "" "0000982334" "00018728" "30" "1050" "0" "1050" "0" "c.1050C>T" "r.(?)" "p.(=)" "" "0001002973" "00018728" "50" "902" "0" "902" "0" "c.902T>C" "r.(?)" "p.(Ile301Thr)" "" "0001002974" "00018728" "30" "1076" "0" "1076" "0" "c.1076G>A" "r.(?)" "p.(Arg359Gln)" "" "0001002975" "00018728" "30" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ala360Val)" "" "0001015475" "00018728" "30" "969" "0" "969" "0" "c.969C>T" "r.(?)" "p.(=)" "" "0001026817" "00018728" "30" "439" "7" "439" "7" "c.439+7C>T" "r.(=)" "p.(=)" "" "0001041644" "00018728" "50" "336" "0" "336" "0" "c.336G>T" "r.(?)" "p.(Leu112Phe)" "" "0001041645" "00018728" "50" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Cys)" "" "0001041646" "00018728" "30" "787" "-6" "787" "-6" "c.787-6T>C" "r.(=)" "p.(=)" "" "0001048313" "00018728" "70" "80" "0" "80" "0" "c.80dup" "r.(?)" "p.(Glu28GlyfsTer37)" "" "0001048314" "00018728" "90" "188" "0" "188" "0" "c.188dup" "r.(?)" "p.(Tyr63Ter)" "" "0001048315" "00018728" "50" "620" "0" "620" "0" "c.620T>G" "r.(?)" "p.(Leu207Arg)" "" "0001048316" "00018728" "70" "621" "0" "623" "0" "c.621_623del" "r.(?)" "p.(Leu208del)" "" "0001048317" "00018728" "50" "730" "0" "732" "0" "c.730_732del" "r.(?)" "p.(Met244del)" "" "0001055773" "00018728" "30" "284" "-8" "284" "-8" "c.284-8T>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 110 "{{screeningid}}" "{{variantid}}" "0000292813" "0000649502" "0000296699" "0000653392" "0000301500" "0000664450" "0000301500" "0000664459" "0000301501" "0000664451" "0000301501" "0000664460" "0000301502" "0000664452" "0000301555" "0000664513" "0000305697" "0000669385" "0000327628" "0000711407" "0000332781" "0000730063" "0000332782" "0000730064" "0000362993" "0000763385" "0000374148" "0000784868" "0000374149" "0000784869" "0000374150" "0000784870" "0000374150" "0000784871" "0000374151" "0000784872" "0000374151" "0000784907" "0000374152" "0000784873" "0000374153" "0000784874" "0000374154" "0000784875" "0000374155" "0000784876" "0000374156" "0000784877" "0000374156" "0000784889" "0000374157" "0000784878" "0000374157" "0000784903" "0000374157" "0000784912" "0000374157" "0000784914" "0000374157" "0000784945" "0000374158" "0000784879" "0000374159" "0000784880" "0000374159" "0000784906" "0000374160" "0000784881" "0000374161" "0000784882" "0000374161" "0000784943" "0000374162" "0000784883" "0000374163" "0000784884" "0000374164" "0000784885" "0000374164" "0000784898" "0000374165" "0000784886" "0000374166" "0000784887" "0000374167" "0000784888" "0000374168" "0000784890" "0000374168" "0000784893" "0000374169" "0000784891" "0000374170" "0000784892" "0000374171" "0000784894" "0000374172" "0000784895" "0000374172" "0000784918" "0000374173" "0000784896" "0000374174" "0000784897" "0000374175" "0000784899" "0000374176" "0000784900" "0000374177" "0000784901" "0000374178" "0000784902" "0000374179" "0000784904" "0000374180" "0000784905" "0000374181" "0000784908" "0000374182" "0000784909" "0000374183" "0000784910" "0000374184" "0000784911" "0000374185" "0000784913" "0000374185" "0000784929" "0000374186" "0000784915" "0000374187" "0000784916" "0000374188" "0000784917" "0000374189" "0000784919" "0000374190" "0000784920" "0000374191" "0000784921" "0000374192" "0000784922" "0000374193" "0000784923" "0000374194" "0000784924" "0000374195" "0000784925" "0000374196" "0000784926" "0000374197" "0000784927" "0000374198" "0000784928" "0000374199" "0000784930" "0000374200" "0000784931" "0000374201" "0000784932" "0000374202" "0000784933" "0000374203" "0000784934" "0000374204" "0000784935" "0000374205" "0000784936" "0000374206" "0000784937" "0000374207" "0000784938" "0000374208" "0000784939" "0000374209" "0000784940" "0000374210" "0000784941" "0000374211" "0000784942" "0000374212" "0000784944" "0000374213" "0000784946" "0000374214" "0000784947" "0000374215" "0000784948" "0000374216" "0000784949" "0000374217" "0000784950" "0000374218" "0000784951" "0000374219" "0000784952" "0000374220" "0000784953" "0000374221" "0000784954" "0000374222" "0000784955" "0000374223" "0000784956" "0000411443" "0000868565" "0000432771" "0000918637" "0000436569" "0000927587" "0000468479" "0001048313" "0000468480" "0001048314" "0000468481" "0001048315" "0000468482" "0001048316" "0000468483" "0001048317"