![](\"gfx/LOVD_logo_OIFE.png\"){kind=logo}
Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "http://databases.lovd.nl/shared/refseq/BMP1_codingDNA.html" "1" "" "![](\"gfx/LOVD_logo_IDdatabase.png\"){kind=logo}
\r\nOsteogenesis Imperfecta Variant Database\r\n" "-1" "" "-1" "00001" "2011-11-07 00:00:00" "00085" "2022-04-05 12:47:06" "00006" "2025-09-24 08:32:36" ## 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}}" "00023997" "BMP1" "transcript variant 3" "002" "NM_006129.4" "" "NP_006120.1" "" "" "" "-266" "3559" "2961" "22022653" "22069839" "00006" "2014-12-23 21:56:59" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{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" "00635" "OI4" "osteogenesis imperfecta, type IV (OI4)" "AD" "166220" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:54:24" "00636" "OI3" "osteogenesis imperfecta, type III (OI3)" "AD" "259420" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:55:28" "00637" "OI2" "osteogenesis imperfecta, type II (OI2)" "AD" "166210" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:56:03" "01481" "OI1" "osteogenesis imperfecta, type I (OI1)" "AD" "166200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:56:46" "01484" "-" "osteoporosis" "AD" "166710" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02970" "OI7" "osteogenesis imperfecta, type VII (OI7)" "AR" "610682" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:53:30" "03752" "OI13" "osteogenesis imperfecta, type XIII (OI13)" "AR" "614856" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-12 13:22:32" "05234" "CM1" "malformation, Chiari, type I (CM-1)" "" "118420" "" "" "" "00006" "2017-03-06 20:17:57" "00006" "2021-12-10 21:51:32" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BMP1" "03752" "BMP1" "05296" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{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}}" "00050314" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00100647" "" "" "" "2" "" "01926" "" "" "M" "no" "(Italy)" "" "0" "yes" "surgery of cranial posterior fossa" "white" "@DRN" "00294619" "" "" "" "199" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305194" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00372585" "" "" "" "1" "" "00085" "{PMID:Asharani 2012:22482805}" "The patient, whose parents are first cousins, is described as having an OI-like disease.\r\n\r\nAn analysis of bone tissue from this patient (or from his sibling?) was presented subsequently by {PMID24091809:Hoyer-Kuhn et al., 2014}." "" "" "Turkey" "" "0" "" "" "" "" "00372586" "" "" "" "1" "" "03864" "{PMID:Valencia 2014:24648371}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00372587" "" "" "" "1" "" "00085" "{PMID:Syx 2015:25656619}" "" "" "" "Portugal" "" "0" "" "" "" "" "00372588" "" "" "" "1" "" "00085" "{PMID:Syx 2015:25656619}" "Patient P3 has a brother (P4) harbouring the same sequence variants." "" "" "Scotland" "" "0" "" "" "" "" "00372589" "" "" "" "1" "" "00085" "{PMID29499418 : Mrosk 2018}" "" "" "" "India" "" "0" "" "" "" "" "00372590" "" "" "" "1" "" "00085" "{PMID: Xu 2019:30408480}" "" "" "" "China" "" "0" "" "" "Han" "" "00372591" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "yes" "Palestine" "" "0" "" "" "" "" "00372593" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "yes" "Palestine" "" "0" "" "" "" "" "00372595" "" "" "" "1" "" "03864" "{PMID:MartÃnez-Glez 2012:22052668}" "" "" "" "Egypt" "" "0" "" "" "" "" "00372596" "" "" "" "1" "" "00085" "{PMID:Sangsin 2017:28257626}" "" "" "" "Thailand" "" "0" "" "" "" "" "00372597" "" "" "" "1" "" "03874" "{PMID:Cho 2014:25402547}" "" "" "" "Korea" "" "0" "" "" "" "" "00372598" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "yes" "Palestine" "" "0" "" "" "" "" "00372599" "" "" "" "1" "" "00085" "{PMID:Syx 2015:25656619}" "" "" "" "" "" "0" "" "" "white" "" "00372600" "" "" "" "1" "" "00085" "{PMID:Pollitt 2016:27576954}" "" "" "" "" "" "0" "" "" "" "" "00372601" "" "" "" "1" "" "00085" "{PMID:Fahiminiya 2014:24616189}" "patient has a younger brother who harbours the same PLS3 variant" "" "" "" "" "0" "" "" "" "P1" "00372602" "" "" "" "1" "" "00085" "{PMID:Fahiminiya 2014:25214535}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "" "00372603" "" "" "" "2" "" "00085" "{PMID:Pollitt 2016:27576954}" "family, 2 affected brothers, both have a severe progressive form of OI" "" "" "" "" "0" "" "" "" "P1" "00372604" "" "" "00372603" "1" "" "00085" "{PMID:Pollitt 2016:27576954}" "brother of P1, harboring the same variation; both individuals have a severe progressive form of OI" "" "" "" "" "0" "" "" "" "P2" "00372605" "" "" "" "1" "" "00085" "{PMID:Mohd Nawawi 2018:29807018}" "WNT1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype." "" "" "Malaysia" "" "0" "" "" "" "" "00372606" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "" "00372607" "" "" "" "1" "" "00085" "{PMID:Fahiminiya 2014:25214535}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "" "00372608" "" "" "" "1" "" "00085" "{PMID:Fahiminiya 2014:25214535}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "" "00372609" "" "" "" "1" "" "00085" "{PMID:Fahiminiya 2014:25214535}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "" "00410168" "" "" "" "1" "" "04315" "{PMID:Kuptanon 2022:35703132}, {DOI:Kuptanon 2022:10.1111/cge.14172}" "" "M" "no" "Thailand" "" "0" "" "" "" "Pat1" "00466828" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat115" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 36 "{{individualid}}" "{{diseaseid}}" "00050314" "00198" "00100647" "05234" "00294619" "00198" "00305194" "00198" "00372585" "05296" "00372586" "00635" "00372586" "00636" "00372587" "00635" "00372587" "05296" "00372588" "05296" "00372589" "05296" "00372590" "02970" "00372591" "00635" "00372591" "00636" "00372593" "01481" "00372593" "05296" "00372595" "00636" "00372596" "05296" "00372597" "00636" "00372597" "05296" "00372598" "00636" "00372598" "00637" "00372598" "05296" "00372599" "00636" "00372600" "05296" "00372601" "01484" "00372602" "00198" "00372603" "05296" "00372604" "05296" "00372605" "00636" "00372606" "05296" "00372607" "00198" "00372608" "00198" "00372609" "00198" "00410168" "03752" "00466828" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00635, 00636, 00637, 01481, 01484, 02970, 03752, 05234, 05296 ## Count = 8 "{{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}}" "0000036926" "00198" "00050314" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000078875" "05234" "00100647" "01926" "Familial, autosomal dominant" "12y" "hypertelorism, prominent head, epicanthus, clinodactyly, psycho-motor delay" "12y" "" "" "" "" "" "" "" "" "" "" "0000267898" "00198" "00372602" "00085" "Unknown" "" "Bone fragility" "" "" "" "" "" "" "" "" "" "" "" "0000267899" "00198" "00372607" "00085" "Unknown" "" "Bone fragility" "" "" "" "" "" "" "" "" "" "" "" "0000267900" "00198" "00372608" "00085" "Unknown" "" "Bone fragility" "" "" "" "" "" "" "" "" "" "" "" "0000267901" "00198" "00372609" "00085" "Unknown" "" "Bone fragility" "" "" "" "" "" "" "" "" "" "" "" "0000302272" "03752" "00410168" "04315" "Familial, autosomal recessive" "06y" "Dentinogenesis imperfecta (HP:0000703), no Blue sclerae (-HP:0000592), no Hearing abnormality (-HP:0000364)" "03y" "" "Bone fracture (HP:0020110)" "" "" "" "" "" "" "" "" "0000352191" "05296" "00466828" "00006" "Familial, autosomal recessive" "" "OI1 classic non-deforming osteogenesis imperfecta, blue sclerae" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050259" "00050314" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000101066" "00100647" "1" "01926" "01926" "2017-03-07 17:02:52" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000295787" "00294619" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306323" "00305194" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000373817" "00372585" "1" "00085" "00085" "2012-04-11 11:05:15" "00085" "2016-02-18 10:14:25" "SEQ" "DNA" "" "" "0000373818" "00372586" "1" "03864" "03864" "2013-11-06 16:02:07" "00085" "2014-03-24 08:53:23" "SEQ" "DNA" "" "" "0000373819" "00372587" "1" "00085" "00085" "2015-02-09 10:54:12" "00085" "2015-02-09 10:59:35" "PCR;SEQ" "DNA" "" "" "0000373820" "00372588" "1" "00085" "00085" "2015-02-09 11:39:57" "" "" "PCR;SEQ" "DNA" "" "" "0000373821" "00372589" "1" "00085" "00085" "2019-08-19 14:58:25" "" "" "SEQ" "DNA" "" "" "0000373822" "00372590" "1" "00085" "00085" "2019-08-14 09:38:48" "00085" "2019-08-15 14:14:06" "SEQ" "DNA" "" "" "0000373823" "00372591" "1" "01819" "01819" "2016-11-28 14:08:34" "" "" "PCR;SEQ" "DNA" "" "" "0000373825" "00372593" "1" "01819" "01819" "2016-11-28 14:15:15" "01819" "2016-11-28 16:41:44" "PCR;SEQ" "DNA" "" "" "0000373827" "00372595" "1" "03864" "00085" "2011-11-07 14:34:39" "00085" "2012-04-11 10:42:06" "PCR;SEQ" "DNA" "" "" "0000373828" "00372596" "1" "00085" "00085" "2019-08-30 11:16:48" "" "" "SEQ" "DNA" "" "" "0000373829" "00372597" "1" "03874" "03874" "2014-08-25 12:15:54" "00085" "2015-04-14 09:04:22" "SEQ-NG" "DNA" "" "" "0000373830" "00372598" "1" "01819" "01819" "2016-11-28 16:19:58" "" "" "PCR;SEQ" "DNA" "" "" "0000373831" "00372599" "1" "00085" "00085" "2015-02-09 10:46:17" "" "" "PCR;SEQ" "DNA" "" "" "0000373832" "00372600" "1" "00085" "00085" "2019-09-02 16:23:44" "" "" "SEQ" "DNA" "" "" "0000373833" "00372601" "1" "00085" "00085" "2014-03-14 11:54:24" "00001" "2021-05-10 11:43:07" "PCR;SEQ" "DNA" "" "" "0000373834" "00372602" "1" "00085" "00085" "2014-10-24 15:24:07" "" "" "SEQ-NG" "DNA" "" "" "0000373835" "00372603" "1" "00085" "00085" "2019-09-02 16:12:57" "00085" "2019-09-02 16:13:36" "SEQ" "DNA" "" "" "0000373836" "00372604" "1" "00085" "00085" "2019-09-02 16:15:27" "" "" "SEQ" "DNA" "" "" "0000373837" "00372605" "1" "00085" "00085" "2019-08-16 10:46:37" "00085" "2019-08-29 08:51:02" "SEQ-NG;SEQ" "DNA" "" "" "0000373838" "00372606" "1" "00085" "00085" "2019-08-20 12:39:49" "00085" "2019-08-20 13:51:02" "SEQ-NG" "DNA" "" "" "0000373839" "00372607" "1" "00085" "00085" "2014-10-24 14:55:29" "00085" "2014-10-24 15:09:46" "SEQ-NG" "DNA" "" "" "0000373840" "00372608" "1" "00085" "00085" "2014-10-24 15:16:51" "" "" "SEQ-NG" "DNA" "" "" "0000373841" "00372609" "1" "00085" "00085" "2014-10-24 15:19:46" "" "" "SEQ-NG" "DNA" "" "" "0000411441" "00410168" "1" "04315" "04315" "2022-05-19 14:52:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000468492" "00466828" "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 = 29 "{{screeningid}}" "{{geneid}}" "0000050259" "BMP1" "0000101066" "BMP1" "0000373817" "BMP1" "0000373818" "BMP1" "0000373819" "BMP1" "0000373820" "BMP1" "0000373821" "BMP1" "0000373822" "BMP1" "0000373823" "BMP1" "0000373825" "BMP1" "0000373827" "BMP1" "0000373828" "BMP1" "0000373829" "BMP1" "0000373830" "BMP1" "0000373831" "BMP1" "0000373832" "BMP1" "0000373833" "BMP1" "0000373833" "PLS3" "0000373834" "BMP1" "0000373835" "BMP1" "0000373836" "BMP1" "0000373837" "BMP1" "0000373838" "BMP1" "0000373839" "BMP1" "0000373840" "BMP1" "0000373841" "BMP1" "0000411441" "BMP1" "0000411441" "COL1A1" "0000411441" "COL1A2" ## 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 = 129 "{{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}}" "0000079211" "3" "90" "8" "22053701" "22053701" "subst" "0" "00006" "BMP1_000061" "g.22053701T>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.22196188T>G" "" "pathogenic" "" "0000163510" "21" "90" "8" "22037322" "22037322" "subst" "0.00101717" "01926" "BMP1_000066" "g.22037322G>A" "" "" "" "" "" "Germline" "yes" "rs538263166" "0" "" "" "g.22179809G>A" "" "pathogenic" "" "0000259274" "0" "10" "8" "22035253" "22035253" "dup" "0" "02325" "BMP1_000065" "g.22035253dup" "" "" "" "BMP1(NM_006129.5):c.731-112dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22177740dup" "" "benign" "" "0000260392" "0" "30" "8" "22051701" "22051701" "subst" "0.00360472" "02329" "BMP1_000059" "g.22051701C>T" "" "" "" "BMP1(NM_006129.5):c.1297+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22194188C>T" "" "likely benign" "" "0000260393" "0" "50" "8" "22052390" "22052390" "subst" "0.000212226" "02329" "BMP1_000022" "g.22052390G>C" "" "" "" "BMP1(NM_001199.3):c.1597G>C (p.(Gly533Arg)), BMP1(NM_006129.5):c.1597G>C (p.G533R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22194877G>C" "" "VUS" "" "0000260394" "0" "10" "8" "22054197" "22054197" "subst" "0.116088" "02329" "BMP1_000023" "g.22054197T>C" "" "" "" "BMP1(NM_006129.5):c.1770T>C (p.A590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22196684T>C" "" "benign" "" "0000260395" "0" "10" "8" "22059323" "22059323" "subst" "0.0239304" "02329" "BMP1_000063" "g.22059323C>T" "" "" "" "BMP1(NM_006129.5):c.2115C>T (p.D705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22201810C>T" "" "benign" "" "0000260396" "0" "10" "8" "22059363" "22059363" "subst" "0.0478779" "02329" "BMP1_000027" "g.22059363G>A" "" "" "" "BMP1(NM_006129.5):c.2155G>A (p.V719I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22201850G>A" "" "benign" "" "0000260397" "0" "10" "8" "22064355" "22064355" "subst" "0.00318334" "02329" "BMP1_000029" "g.22064355G>A" "" "" "" "BMP1(NM_006129.5):c.2234-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22206842G>A" "" "benign" "" "0000260398" "0" "10" "8" "22064347" "22064347" "subst" "0.00482842" "02329" "BMP1_000028" "g.22064347C>T" "" "" "" "BMP1(NM_006129.5):c.2234-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22206834C>T" "" "benign" "" "0000260399" "0" "30" "8" "22064860" "22064860" "subst" "0.000691282" "02329" "BMP1_000030" "g.22064860C>T" "" "" "" "BMP1(NM_006129.4):c.2406C>T (p.(Tyr802=)), BMP1(NM_006129.5):c.2406C>T (p.Y802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22207347C>T" "" "likely benign" "" "0000260400" "0" "30" "8" "22064881" "22064881" "subst" "7.72282E-5" "02329" "BMP1_000031" "g.22064881C>T" "" "" "" "BMP1(NM_006129.5):c.2427C>T (p.D809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22207368C>T" "" "likely benign" "" "0000260401" "0" "10" "8" "22066941" "22066941" "subst" "0.101928" "02329" "BMP1_000033" "g.22066941C>A" "" "" "" "BMP1(NM_006129.5):c.2576-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22209428C>A" "" "benign" "" "0000260402" "0" "10" "8" "22067070" "22067070" "subst" "0.0395785" "02329" "BMP1_000034" "g.22067070C>T" "" "" "" "BMP1(NM_006129.5):c.2688C>T (p.A896=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22209557C>T" "" "benign" "" "0000260403" "0" "30" "8" "22067106" "22067106" "subst" "0.000568519" "02329" "BMP1_000035" "g.22067106C>T" "" "" "" "BMP1(NM_006129.4):c.2724C>T (p.(Thr908=)), BMP1(NM_006129.5):c.2724C>T (p.T908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22209593C>T" "" "likely benign" "" "0000260404" "0" "30" "8" "22034183" "22034183" "subst" "0.00031774" "02329" "BMP1_000064" "g.22034183C>T" "" "" "" "BMP1(NM_006129.5):c.551+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22176670C>T" "" "likely benign" "" "0000263726" "0" "10" "8" "22049596" "22049596" "subst" "0.00412766" "01943" "BMP1_000018" "g.22049596G>A" "" "{PMID:Fahiminiya 2014:25214535}" "" "BMP1(NM_001199.3):c.1112G>A (p.(Arg371His)), BMP1(NM_006129.4):c.1112G>A (p.R371H), BMP1(NM_006129.5):c.1112G>A (p.R371H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22192083G>A" "" "benign" "" "0000298160" "0" "10" "8" "22021883" "22021883" "subst" "0.315827" "02325" "SFTPC_000023" "g.22021883G>A" "" "" "" "SFTPC(NM_001172357.2):c.*329G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22164370G>A" "" "benign" "" "0000298161" "0" "10" "8" "22021037" "22021037" "subst" "0.251143" "02325" "SFTPC_000019" "g.22021037C>A" "" "" "" "SFTPC(NM_001172357.2):c.413C>A (p.T138N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22163524C>A" "" "benign" "" "0000298162" "0" "10" "8" "22021517" "22021517" "subst" "0.298053" "02325" "SFTPC_000021" "g.22021517G>A" "" "" "" "SFTPC(NM_001172357.2):c.539G>A (p.S180N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22164004G>A" "" "benign" "" "0000332050" "0" "50" "8" "22021447" "22021447" "subst" "0" "01804" "SFTPC_000020" "g.22021447C>T" "" "" "" "SFTPC(NM_001172357.1):c.469C>T (p.(Gln157Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22163934C>T" "" "VUS" "" "0000332052" "0" "50" "8" "22023036" "22023036" "subst" "0" "01804" "BMP1_000058" "g.22023036C>G" "" "" "" "BMP1(NM_001199.3):c.118C>G (p.(Pro40Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22165523C>G" "" "VUS" "" "0000332053" "0" "30" "8" "22037322" "22037322" "subst" "0.00101717" "01804" "BMP1_000066" "g.22037322G>A" "" "" "" "BMP1(NM_001199.3):c.941G>A (p.(Arg314His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22179809G>A" "" "likely benign" "" "0000332054" "0" "50" "8" "22049601" "22049601" "subst" "0" "01804" "BMP1_000057" "g.22049601C>T" "" "{PMID:Fahiminiya 2014:25214535}" "" "BMP1(NM_001199.3):c.1117C>T (p.(Arg373Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22192088C>T" "" "VUS" "" "0000332055" "0" "50" "8" "22052109" "22052109" "subst" "8.14087E-6" "01804" "BMP1_000060" "g.22052109T>C" "" "" "" "BMP1(NM_001199.3):c.1443+6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22194596T>C" "" "VUS" "" "0000332057" "0" "50" "8" "22059342" "22059342" "subst" "0.000795044" "01804" "BMP1_000026" "g.22059342G>A" "" "" "" "BMP1(NM_006129.4):c.2134G>A (p.(Gly712Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22201829G>A" "" "VUS" "" "0000332058" "0" "50" "8" "22064913" "22064913" "subst" "8.13789E-6" "01804" "BMP1_000032" "g.22064913G>A" "" "" "" "BMP1(NM_006129.4):c.2459G>A (p.(Arg820His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22207400G>A" "" "VUS" "" "0000534560" "0" "30" "8" "22020679" "22020679" "subst" "0.00334668" "01943" "SFTPC_000024" "g.22020679C>T" "" "" "" "SFTPC(NM_003018.3):c.288C>T (p.I96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22163166C>T" "" "likely benign" "" "0000534561" "0" "10" "8" "22021934" "22021934" "subst" "0.285778" "02325" "SFTPC_000025" "g.22021934G>A" "" "" "" "SFTPC(NM_001172357.2):c.*380G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22164421G>A" "" "benign" "" "0000534562" "0" "30" "8" "22031205" "22031205" "subst" "0.000199575" "02329" "BMP1_000036" "g.22031205G>A" "" "" "" "BMP1(NM_006129.4):c.239G>A (p.(Arg80His)), BMP1(NM_006129.5):c.239G>A (p.R80H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22173692G>A" "" "likely benign" "" "0000534563" "0" "50" "8" "22033806" "22033806" "subst" "0" "02327" "BMP1_000037" "g.22033806T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22176293T>C" "" "VUS" "" "0000534564" "0" "30" "8" "22049596" "22049596" "subst" "0.00412766" "01804" "BMP1_000018" "g.22049596G>A" "" "{PMID:Fahiminiya 2014:25214535}" "" "BMP1(NM_001199.3):c.1112G>A (p.(Arg371His)), BMP1(NM_006129.4):c.1112G>A (p.R371H), BMP1(NM_006129.5):c.1112G>A (p.R371H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22192083G>A" "" "likely benign" "" "0000534565" "0" "30" "8" "22052442" "22052443" "del" "0" "01943" "BMP1_000038" "g.22052442_22052443del" "" "" "" "BMP1(NM_006129.4):c.1639+10_1639+11delCT, BMP1(NM_006129.5):c.1639+10_1639+11del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22194929_22194930del" "" "likely benign" "" "0000534566" "0" "10" "8" "22054188" "22054188" "subst" "0.00719565" "02329" "BMP1_000039" "g.22054188C>T" "" "" "" "BMP1(NM_001199.3):c.1766-5C>T (p.?), BMP1(NM_006129.5):c.1766-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22196675C>T" "" "benign" "" "0000534568" "0" "10" "8" "22059413" "22059413" "subst" "0.00773276" "02329" "BMP1_000041" "g.22059413C>G" "" "" "" "BMP1(NM_006129.5):c.2205C>G (p.L735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22201900C>G" "" "benign" "" "0000534569" "0" "30" "8" "22059458" "22059458" "del" "0.00045826" "02329" "BMP1_000042" "g.22059458del" "" "" "" "BMP1(NM_006129.5):c.2233+17delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22201945del" "" "likely benign" "" "0000534570" "0" "10" "8" "22064351" "22064351" "subst" "0.00278557" "02329" "BMP1_000043" "g.22064351A>C" "" "" "" "BMP1(NM_006129.5):c.2234-16A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22206838A>C" "" "benign" "" "0000534571" "0" "30" "8" "22064904" "22064904" "subst" "0.0158112" "01804" "BMP1_000044" "g.22064904T>C" "" "" "" "BMP1(NM_006129.4):c.2450T>C (p.(Val817Ala)), BMP1(NM_006129.5):c.2450T>C (p.V817A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22207391T>C" "" "likely benign" "" "0000534572" "0" "10" "8" "22064904" "22064904" "subst" "0.0158112" "02329" "BMP1_000044" "g.22064904T>C" "" "" "" "BMP1(NM_006129.4):c.2450T>C (p.(Val817Ala)), BMP1(NM_006129.5):c.2450T>C (p.V817A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22207391T>C" "" "benign" "" "0000534573" "0" "50" "8" "22066975" "22066975" "subst" "0.000199046" "02329" "BMP1_000045" "g.22066975C>T" "" "" "" "BMP1(NM_006129.5):c.2593C>T (p.R865W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22209462C>T" "" "VUS" "" "0000534574" "0" "10" "8" "22067022" "22067022" "subst" "0.0734218" "02329" "BMP1_000046" "g.22067022C>A" "" "" "" "BMP1(NM_006129.5):c.2640C>A (p.G880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22209509C>A" "" "benign" "" "0000534575" "0" "30" "8" "22067112" "22067112" "subst" "0.000129952" "02329" "BMP1_000047" "g.22067112G>A" "" "" "" "BMP1(NM_006129.5):c.2730G>A (p.E910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22209599G>A" "" "likely benign" "" "0000611589" "0" "50" "8" "22021501" "22021501" "subst" "0.000525142" "01943" "SFTPC_000026" "g.22021501C>G" "" "" "" "SFTPC(NM_003018.3):c.541C>G (p.L181V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22163988C>G" "" "VUS" "" "0000611590" "0" "30" "8" "22054188" "22054188" "subst" "0.00719565" "01804" "BMP1_000039" "g.22054188C>T" "" "" "" "BMP1(NM_001199.3):c.1766-5C>T (p.?), BMP1(NM_006129.5):c.1766-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22196675C>T" "" "likely benign" "" "0000611591" "0" "50" "8" "22054919" "22054919" "subst" "0" "01804" "BMP1_000050" "g.22054919C>T" "" "" "" "BMP1(NM_001199.3):c.2093C>T (p.(Ala698Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22197406C>T" "" "VUS" "" "0000622054" "0" "30" "8" "22054183" "22054183" "subst" "6.10888E-5" "01943" "BMP1_000048" "g.22054183G>A" "" "" "" "BMP1(NM_006129.4):c.1766-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22196670G>A" "" "likely benign" "" "0000622055" "0" "50" "8" "22054231" "22054231" "subst" "0.00016666" "01943" "BMP1_000049" "g.22054231A>G" "" "" "" "BMP1(NM_006129.4):c.1804A>G (p.I602V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22196718A>G" "" "VUS" "" "0000622056" "0" "30" "8" "22059362" "22059362" "subst" "0.000526028" "02329" "BMP1_000051" "g.22059362C>T" "" "" "" "BMP1(NM_006129.5):c.2154C>T (p.C718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22201849C>T" "" "likely benign" "" "0000652476" "1" "30" "8" "22059323" "22059323" "subst" "0.0239304" "03575" "BMP1_000063" "g.22059323C>T" "199/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "199 heterozygous; {DB:CLININrs61729094}" "Germline" "" "rs61729094" "0" "" "" "g.22201810C>T" "" "likely benign" "" "0000656074" "0" "50" "8" "22054870" "22054870" "subst" "8.12315E-6" "01804" "BMP1_000052" "g.22054870C>T" "" "" "" "BMP1(NM_001199.3):c.2044C>T (p.(Arg682Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22197357C>T" "" "VUS" "" "0000670011" "3" "30" "8" "22059323" "22059323" "subst" "0.0239304" "03575" "BMP1_000063" "g.22059323C>T" "8/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs61729094}" "Germline" "" "rs61729094" "0" "" "" "g.22201810C>T" "" "likely benign" "" "0000678367" "0" "50" "8" "22052073" "22052073" "subst" "4.06141E-6" "01804" "BMP1_000053" "g.22052073C>G" "" "" "" "BMP1(NM_001199.3):c.1413C>G (p.(Phe471Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690243" "0" "30" "8" "22049596" "22049596" "subst" "0.00412766" "02329" "BMP1_000018" "g.22049596G>A" "" "{PMID:Fahiminiya 2014:25214535}" "" "BMP1(NM_001199.3):c.1112G>A (p.(Arg371His)), BMP1(NM_006129.4):c.1112G>A (p.R371H), BMP1(NM_006129.5):c.1112G>A (p.R371H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690244" "0" "30" "8" "22059892" "22059892" "subst" "0" "02329" "BMP1_000054" "g.22059892A>G" "" "" "" "BMP1(NM_006129.5):c.2233+451A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721942" "0" "30" "8" "22054310" "22054310" "subst" "2.03249E-5" "01804" "BMP1_000055" "g.22054310G>A" "" "" "" "BMP1(NM_001199.3):c.1883G>A (p.(Arg628His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721943" "0" "50" "8" "22064939" "22064939" "subst" "2.0464E-5" "01804" "BMP1_000056" "g.22064939C>A" "" "" "" "BMP1(NM_006129.4):c.2485C>A (p.(Pro829Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000784074" "3" "99" "8" "22022952" "22022952" "subst" "1.07499E-5" "00085" "BMP1_000002" "g.22022952G>C" "" "{PMID:Asharani 2012:22482805}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784075" "3" "99" "8" "22022952" "22022952" "subst" "1.07499E-5" "03864" "BMP1_000002" "g.22022952G>C" "" "{PMID:Valencia 2014:24648371}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784076" "1" "99" "8" "22022952" "22022952" "subst" "1.07499E-5" "00085" "BMP1_000002" "g.22022952G>C" "" "{PMID:Syx 2015:25656619}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784077" "1" "99" "8" "22022952" "22022952" "subst" "1.07499E-5" "00085" "BMP1_000002" "g.22022952G>C" "" "{PMID:Syx 2015:25656619}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784078" "3" "99" "8" "22022952" "22022952" "subst" "1.07499E-5" "00085" "BMP1_000002" "g.22022952G>C" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784079" "11" "99" "8" "22023067" "22023067" "subst" "0" "00085" "BMP1_000016" "g.22023067G>A" "" "{PMID30408480: Xu 2019}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784080" "3" "55" "8" "22034610" "22034610" "subst" "0" "01819" "BMP1_000012" "g.22034610C>G" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "proband\'s brother also harbours the same homozygous mutation" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000784082" "3" "95" "8" "22034613" "22034613" "subst" "0" "01819" "BMP1_000013" "g.22034613G>T" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784084" "3" "99" "8" "22035381" "22035381" "subst" "0" "03864" "BMP1_000001" "g.22035381C>G" "" "{PMID:MartÃnez-Glez 2012:22052668}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784085" "11" "95" "8" "22035430" "22035431" "del" "0" "00085" "BMP1_000020" "g.22035430_22035431del" "" "{PMID:Sangsin 2017:28257626}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784086" "21" "99" "8" "22035442" "22035442" "subst" "0" "03874" "BMP1_000004" "g.22035442A>G" "" "{PMID:Cho 2014:25402547}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784087" "3" "55" "8" "22035452" "22035452" "subst" "0" "01819" "BMP1_000014" "g.22035452C>T" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "two unaffected siblings were not harboring the homozygous variant" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000784088" "21" "99" "8" "22037306" "22037306" "del" "0" "00085" "BMP1_000008" "g.22037306del" "" "{PMID:Syx 2015:25656619}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784089" "11" "95" "8" "22049632" "22049632" "subst" "2.43762E-5" "00085" "BMP1_000025" "g.22049632G>A" "" "{PMID:Pollitt 2016:27576954}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784090" "21" "95" "8" "22051683" "22051683" "subst" "0" "00085" "BMP1_000024" "g.22051683C>G" "" "{PMID:Pollitt 2016:27576954}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784091" "11" "99" "8" "22051687" "22051687" "subst" "0" "03874" "BMP1_000005" "g.22051687G>T" "" "{PMID:Cho 2014:25402547}" "" "" "last base of exon 10, variant leads to exon skipping" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784092" "21" "79" "8" "22051984" "22051984" "subst" "0" "00085" "BMP1_000015" "g.22051984G>T" "" "{PMID0:Xu 2019:3040848}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784093" "11" "99" "8" "22052285" "22052285" "subst" "4.07973E-6" "00085" "BMP1_000009" "g.22052285G>A" "" "{PMID:Syx 2015:25656619}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784094" "21" "99" "8" "22052323" "22052323" "subst" "4.0626E-6" "00085" "BMP1_000003" "g.22052323T>G" "" "{PMID:Fahiminiya 2014:24616189}" "" "" "the variant is assessed as being deleterious but does not account for the osteoporosis in the brothers" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784095" "2" "99" "8" "22054266" "22054266" "del" "0" "00085" "BMP1_000010" "g.22054266del" "" "{PMID:Syx 2015:25656619}" "" "" "The BMP1 gene has two transcripts. The reported frameshifted protein product (p.(Asn614Thrfs*138)) is derived from the longer mTLD transcript (20 exons). The corresponding frameshift for the BMP transcript (16 exons) is p.(Asn614Thrfs*188)." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784096" "11" "99" "8" "22054933" "22054933" "subst" "0" "00085" "BMP1_000007" "g.22054933G>C" "" "{PMID:Fahiminiya 2014:25214535}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784097" "21" "95" "8" "22059314" "22059314" "subst" "0" "00085" "BMP1_000021" "g.22059314A>G" "" "{PMID:Sangsin 2017:28257626}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784098" "2" "99" "8" "22059396" "22059396" "dup" "0" "00085" "BMP1_000011" "g.22059396dup" "" "{PMID:Syx 2015:25656619}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784099" "3" "95" "8" "22059396" "22059396" "dup" "0" "00085" "BMP1_000011" "g.22059396dup" "" "{PMID:Pollitt 2016:27576954}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784100" "3" "95" "8" "22059396" "22059396" "dup" "0" "00085" "BMP1_000011" "g.22059396dup" "" "{PMID:Pollitt 2016:27576954}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784101" "0" "97" "8" "22064483" "22064483" "subst" "0" "00085" "BMP1_000017" "g.22064483C>G" "" "{PMID:Mohd Nawawi 2018:29807018}" "" "" "WNT1 sequence variants are normally recessive, the single variant in this patient probably does not account alone for the OI phenotype" "Unknown" "" "" "0" "" "" "" "" "pathogenic (!)" "" "0000784102" "3" "79" "8" "22058714" "22058714" "subst" "0" "00085" "BMP1_000019" "g.22058714T>C" "" "{PMID:Mrosk 2018:29499418}" "" "NM_001199.3:c.2191T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784103" "3" "99" "8" "22069482" "22069482" "subst" "0" "00085" "BMP1_000006" "g.22069482T>C" "" "{PMID:Fahiminiya 2014:25214535}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784104" "3" "99" "8" "22069482" "22069482" "subst" "0" "00085" "BMP1_000006" "g.22069482T>C" "" "{PMID:Fahiminiya 2014:25214535}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784105" "3" "99" "8" "22069482" "22069482" "subst" "0" "00085" "BMP1_000006" "g.22069482T>C" "" "{PMID:Fahiminiya 2014:25214535}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000784106" "21" "99" "8" "22069482" "22069482" "subst" "0" "00085" "BMP1_000006" "g.22069482T>C" "" "{PMID:Fahiminiya 2014:25214535}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000803593" "0" "30" "8" "22022924" "22022924" "subst" "0" "01943" "SFTPC_000040" "g.22022924C>A" "" "" "" "BMP1(NM_006129.4):c.6C>A (p.P2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803594" "0" "30" "8" "22033703" "22033703" "subst" "6.09484E-5" "01943" "BMP1_000067" "g.22033703C>T" "" "" "" "BMP1(NM_006129.4):c.310C>T (p.P104S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803595" "0" "50" "8" "22033809" "22033809" "subst" "5.0671E-5" "01804" "BMP1_000068" "g.22033809T>C" "" "" "" "BMP1(NM_001199.3):c.416T>C (p.(Ile139Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803596" "0" "30" "8" "22049670" "22049670" "subst" "8.14744E-6" "01943" "BMP1_000069" "g.22049670G>A" "" "" "" "BMP1(NM_006129.4):c.1180+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803597" "0" "50" "8" "22051640" "22051640" "subst" "0" "01804" "BMP1_000070" "g.22051640G>T" "" "" "" "BMP1(NM_001199.3):c.1250G>T (p.(Arg417Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803598" "0" "30" "8" "22064513" "22064513" "subst" "4.11296E-6" "02329" "BMP1_000071" "g.22064513A>C" "" "" "" "BMP1(NM_006129.5):c.2361+19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851891" "0" "30" "8" "22052444" "22052444" "subst" "1.73992E-5" "02329" "BMP1_000072" "g.22052444G>C" "" "" "" "BMP1(NM_006129.5):c.1639+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851892" "0" "50" "8" "22058669" "22058669" "subst" "0" "01804" "BMP1_000073" "g.22058669C>G" "" "" "" "BMP1(NM_001199.3):c.2146C>G (p.(His716Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861182" "0" "30" "8" "22019380" "22019380" "subst" "8.13259E-6" "01943" "SFTPC_000041" "g.22019380G>A" "" "" "" "SFTPC(NM_001172357.1):c.39G>A (p.P13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861183" "0" "90" "8" "22020609" "22020609" "subst" "0" "02325" "SFTPC_000001" "g.22020609T>C" "" "" "" "SFTPC(NM_003018.4):c.218T>C (p.I73T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861184" "0" "50" "8" "22021071" "22021072" "dup" "0" "01943" "SFTPC_000042" "g.22021071_22021072dup" "" "" "" "SFTPC(NM_001172357.1):c.435_435+1insGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861185" "0" "30" "8" "22021530" "22021530" "subst" "0.000668052" "01943" "SFTPC_000043" "g.22021530C>T" "" "" "" "SFTPC(NM_001172357.1):c.552C>T (p.G184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861186" "0" "30" "8" "22069127" "22069127" "subst" "0.000167861" "02329" "BMP1_000074" "g.22069127G>A" "" "" "" "BMP1(NM_006129.5):c.2847G>A (p.S949=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000868561" "1" "90" "8" "22034506" "22034506" "dup" "0" "04315" "BMP1_000075" "g.22034506dup" "" "{PMID:Kuptanon 2022:35703132}, {DOI:Kuptanon 2022:10.1111/cge.14172}" "" "584dupG" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.22176993dup" "{CV-SCV:001960983}" "likely pathogenic (recessive)" "ACMG" "0000868562" "2" "90" "8" "22037884" "22037884" "subst" "0" "04315" "BMP1_000076" "g.22037884G>A" "" "{PMID:Kuptanon 2022:35703132}, {DOI:Kuptanon 2022:10.1111/cge.14172}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "" "{CV-SCV:001960984}" "likely pathogenic (recessive)" "ACMG" "0000888307" "0" "50" "8" "22052390" "22052390" "subst" "0.000212226" "01804" "BMP1_000022" "g.22052390G>C" "" "" "" "BMP1(NM_001199.3):c.1597G>C (p.(Gly533Arg)), BMP1(NM_006129.5):c.1597G>C (p.G533R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888308" "0" "50" "8" "22067158" "22067158" "subst" "0" "01804" "BMP1_000077" "g.22067158G>C" "" "" "" "BMP1(NM_006129.4):c.2776G>C (p.(Asp926His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912939" "0" "30" "8" "22054224" "22054224" "subst" "2.84407E-5" "02329" "BMP1_000078" "g.22054224C>T" "" "" "" "BMP1(NM_006129.5):c.1797C>T (p.N599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912940" "0" "50" "8" "22064960" "22064960" "subst" "6.54927E-5" "01804" "BMP1_000079" "g.22064960C>T" "" "" "" "BMP1(NM_006129.4):c.2506C>T (p.(Arg836Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924863" "0" "30" "8" "22033710" "22033710" "subst" "4.06309E-6" "01804" "BMP1_000080" "g.22033710G>A" "" "" "" "BMP1(NM_001199.3):c.317G>A (p.(Arg106Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924864" "0" "30" "8" "22053063" "22053063" "subst" "8.22788E-6" "02329" "BMP1_000081" "g.22053063C>T" "" "" "" "BMP1(NM_006129.5):c.1728C>T (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924865" "0" "30" "8" "22064860" "22064860" "subst" "0.000691282" "01804" "BMP1_000030" "g.22064860C>T" "" "" "" "BMP1(NM_006129.4):c.2406C>T (p.(Tyr802=)), BMP1(NM_006129.5):c.2406C>T (p.Y802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929437" "0" "50" "8" "22052264" "22052264" "subst" "1.23302E-5" "01804" "BMP1_000082" "g.22052264G>A" "" "" "" "BMP1(NM_001199.3):c.1471G>A (p.(Asp491Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929438" "0" "30" "8" "22059395" "22059395" "subst" "9.79288E-5" "02329" "BMP1_000083" "g.22059395C>T" "" "" "" "BMP1(NM_006129.5):c.2187C>T (p.C729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929439" "0" "30" "8" "22067106" "22067106" "subst" "0.000568519" "01804" "BMP1_000035" "g.22067106C>T" "" "" "" "BMP1(NM_006129.4):c.2724C>T (p.(Thr908=)), BMP1(NM_006129.5):c.2724C>T (p.T908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949062" "0" "30" "8" "22054434" "22054434" "del" "0" "02329" "BMP1_000084" "g.22054434del" "" "" "" "BMP1(NM_006129.5):c.1926+81delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964963" "0" "30" "8" "22031017" "22031017" "subst" "0" "02329" "BMP1_000085" "g.22031017T>G" "" "" "" "BMP1(NM_006129.5):c.149-98T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978167" "0" "50" "8" "22034161" "22034161" "subst" "1.2194E-5" "01804" "BMP1_000086" "g.22034161C>T" "" "" "" "BMP1(NM_006129.5):c.549C>T (p.(Cys183=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978168" "0" "30" "8" "22034295" "22034295" "subst" "0" "02329" "BMP1_000087" "g.22034295C>T" "" "" "" "BMP1(NM_006129.5):c.551+132C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989256" "0" "50" "8" "22037306" "22037306" "subst" "0" "03779" "BMP1_000089" "g.22037306G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000989257" "0" "50" "8" "22034061" "22034061" "subst" "0" "03779" "BMP1_000088" "g.22034061T>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000997107" "0" "30" "8" "22031205" "22031205" "subst" "0.000199575" "01804" "BMP1_000036" "g.22031205G>A" "" "" "" "BMP1(NM_006129.4):c.239G>A (p.(Arg80His)), BMP1(NM_006129.5):c.239G>A (p.R80H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997108" "0" "50" "8" "22049578" "22049578" "subst" "1.21972E-5" "01804" "BMP1_000090" "g.22049578C>T" "" "" "" "BMP1(NM_006129.4):c.1094C>T (p.(Thr365Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997109" "0" "50" "8" "22064484" "22064484" "subst" "7.32845E-5" "01804" "BMP1_000091" "g.22064484G>A" "" "" "" "BMP1(NM_006129.4):c.2351G>A (p.(Arg784Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997110" "0" "50" "8" "22069194" "22069194" "subst" "2.44405E-5" "01804" "BMP1_000092" "g.22069194C>T" "" "" "" "BMP1(NM_006129.4):c.2914C>T (p.(Arg972*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014436" "0" "30" "8" "22064455" "22064455" "subst" "0.000251885" "02329" "BMP1_000093" "g.22064455G>A" "" "" "" "BMP1(NM_006129.5):c.2322G>A (p.T774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025513" "0" "30" "8" "22034486" "22034486" "subst" "5.05582E-5" "02329" "BMP1_000094" "g.22034486C>T" "" "" "" "BMP1(NM_006129.5):c.564C>T (p.Y188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036913" "0" "30" "8" "22052442" "22052443" "del" "0" "01804" "BMP1_000038" "g.22052442_22052443del" "" "" "" "BMP1(NM_006129.4):c.1639+10_1639+11delCT, BMP1(NM_006129.5):c.1639+10_1639+11del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036914" "0" "50" "8" "22054901" "22054901" "subst" "0.000227683" "01804" "BMP1_000095" "g.22054901C>T" "" "" "" "BMP1(NM_006129.5):c.2075C>T (p.(Ser692Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036915" "0" "50" "8" "22059415" "22059415" "subst" "0" "01804" "BMP1_000096" "g.22059415A>G" "" "" "" "BMP1(NM_006129.5):c.2207A>G (p.(His736Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036916" "0" "70" "8" "22067156" "22067156" "del" "0" "01804" "BMP1_000097" "g.22067156del" "" "" "" "BMP1(NM_006129.5):c.2774del (p.(Phe925Serfs*32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001048326" "3" "90" "8" "22058633" "22058634" "del" "0" "00006" "BMP1_000098" "g.22058633_22058634del" "" "{PMID:Tuysuz 2022:34902613}" "" "NM_001199:c.2110_2111del (Lys704Glufs)" "ACMG PM1, PM2, PP2, PP3, PM6" "Germline" "" "" "0" "" "" "g.22201120_22201121del" "" "pathogenic" "" ## 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 BMP1 ## Count = 129 "{{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}}" "0000079211" "00023997" "00" "1766" "-492" "1766" "-492" "c.1766-492T>G" "r.(=)" "p.(=)" "13i" "0000163510" "00023997" "90" "941" "0" "941" "0" "c.941G>A" "r.(941g>a)" "p.(Arg314His)" "7" "0000259274" "00023997" "10" "731" "-112" "731" "-112" "c.731-112dup" "r.(=)" "p.(=)" "" "0000260392" "00023997" "30" "1297" "14" "1297" "14" "c.1297+14C>T" "r.(=)" "p.(=)" "" "0000260393" "00023997" "50" "1597" "0" "1597" "0" "c.1597G>C" "r.(?)" "p.(Gly533Arg)" "" "0000260394" "00023997" "10" "1770" "0" "1770" "0" "c.1770T>C" "r.(?)" "p.(Ala590=)" "" "0000260395" "00023997" "10" "2115" "0" "2115" "0" "c.2115C>T" "r.(?)" "p.(Asp705=)" "" "0000260396" "00023997" "10" "2155" "0" "2155" "0" "c.2155G>A" "r.(?)" "p.(Val719Ile)" "" "0000260397" "00023997" "10" "2234" "-12" "2234" "-12" "c.2234-12G>A" "r.(=)" "p.(=)" "" "0000260398" "00023997" "10" "2234" "-20" "2234" "-20" "c.2234-20C>T" "r.(=)" "p.(=)" "" "0000260399" "00023997" "30" "2406" "0" "2406" "0" "c.2406C>T" "r.(?)" "p.(Tyr802=)" "" "0000260400" "00023997" "30" "2427" "0" "2427" "0" "c.2427C>T" "r.(?)" "p.(Asp809=)" "" "0000260401" "00023997" "10" "2576" "-17" "2576" "-17" "c.2576-17C>A" "r.(=)" "p.(=)" "" "0000260402" "00023997" "10" "2688" "0" "2688" "0" "c.2688C>T" "r.(?)" "p.(Ala896=)" "" "0000260403" "00023997" "30" "2724" "0" "2724" "0" "c.2724C>T" "r.(?)" "p.(Thr908=)" "" "0000260404" "00023997" "30" "551" "20" "551" "20" "c.551+20C>T" "r.(=)" "p.(=)" "" "0000263726" "00023997" "10" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371His)" "" "0000298160" "00023997" "10" "-1036" "0" "-1036" "0" "c.-1036G>A" "r.(?)" "p.(=)" "" "0000298161" "00023997" "10" "-1882" "0" "-1882" "0" "c.-1882C>A" "r.(?)" "p.(=)" "" "0000298162" "00023997" "10" "-1402" "0" "-1402" "0" "c.-1402G>A" "r.(?)" "p.(=)" "" "0000332050" "00023997" "50" "-1472" "0" "-1472" "0" "c.-1472C>T" "r.(?)" "p.(=)" "" "0000332052" "00023997" "50" "118" "0" "118" "0" "c.118C>G" "r.(?)" "p.(Pro40Ala)" "" "0000332053" "00023997" "30" "941" "0" "941" "0" "c.941G>A" "r.(?)" "p.(Arg314His)" "" "0000332054" "00023997" "50" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000332055" "00023997" "50" "1443" "6" "1443" "6" "c.1443+6T>C" "r.(=)" "p.(=)" "" "0000332057" "00023997" "50" "2134" "0" "2134" "0" "c.2134G>A" "r.(?)" "p.(Gly712Ser)" "" "0000332058" "00023997" "50" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Arg820His)" "" "0000534560" "00023997" "30" "-2240" "0" "-2240" "0" "c.-2240C>T" "r.(?)" "p.(=)" "" "0000534561" "00023997" "10" "-985" "0" "-985" "0" "c.-985G>A" "r.(?)" "p.(=)" "" "0000534562" "00023997" "30" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80His)" "" "0000534563" "00023997" "50" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Val138Ala)" "" "0000534564" "00023997" "30" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371His)" "" "0000534565" "00023997" "30" "1639" "10" "1639" "11" "c.1639+10_1639+11del" "r.(=)" "p.(=)" "" "0000534566" "00023997" "10" "1766" "-5" "1766" "-5" "c.1766-5C>T" "r.spl?" "p.?" "" "0000534568" "00023997" "10" "2205" "0" "2205" "0" "c.2205C>G" "r.(?)" "p.(Leu735=)" "" "0000534569" "00023997" "30" "2233" "17" "2233" "17" "c.2233+17del" "r.(=)" "p.(=)" "" "0000534570" "00023997" "10" "2234" "-16" "2234" "-16" "c.2234-16A>C" "r.(=)" "p.(=)" "" "0000534571" "00023997" "30" "2450" "0" "2450" "0" "c.2450T>C" "r.(?)" "p.(Val817Ala)" "" "0000534572" "00023997" "10" "2450" "0" "2450" "0" "c.2450T>C" "r.(?)" "p.(Val817Ala)" "" "0000534573" "00023997" "50" "2593" "0" "2593" "0" "c.2593C>T" "r.(?)" "p.(Arg865Trp)" "" "0000534574" "00023997" "10" "2640" "0" "2640" "0" "c.2640C>A" "r.(?)" "p.(Gly880=)" "" "0000534575" "00023997" "30" "2730" "0" "2730" "0" "c.2730G>A" "r.(?)" "p.(Glu910=)" "" "0000611589" "00023997" "50" "-1418" "0" "-1418" "0" "c.-1418C>G" "r.(?)" "p.(=)" "" "0000611590" "00023997" "30" "1766" "-5" "1766" "-5" "c.1766-5C>T" "r.spl?" "p.?" "" "0000611591" "00023997" "50" "2093" "0" "2093" "0" "c.2093C>T" "r.(?)" "p.(Ala698Val)" "" "0000622054" "00023997" "30" "1766" "-10" "1766" "-10" "c.1766-10G>A" "r.(=)" "p.(=)" "" "0000622055" "00023997" "50" "1804" "0" "1804" "0" "c.1804A>G" "r.(?)" "p.(Ile602Val)" "" "0000622056" "00023997" "30" "2154" "0" "2154" "0" "c.2154C>T" "r.(?)" "p.(Cys718=)" "" "0000652476" "00023997" "30" "2115" "0" "2115" "0" "c.2115C>T" "r.(?)" "p.(Asp705=)" "" "0000656074" "00023997" "50" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Arg682Cys)" "" "0000670011" "00023997" "30" "2115" "0" "2115" "0" "c.2115C>T" "r.(=)" "p.(=)" "" "0000678367" "00023997" "50" "1413" "0" "1413" "0" "c.1413C>G" "r.(?)" "p.(Phe471Leu)" "" "0000690243" "00023997" "30" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371His)" "" "0000690244" "00023997" "30" "2233" "451" "2233" "451" "c.2233+451A>G" "r.(=)" "p.(=)" "" "0000721942" "00023997" "30" "1883" "0" "1883" "0" "c.1883G>A" "r.(?)" "p.(Arg628His)" "" "0000721943" "00023997" "50" "2485" "0" "2485" "0" "c.2485C>A" "r.(?)" "p.(Pro829Thr)" "" "0000784074" "00023997" "99" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Gly12Arg)" "1" "0000784075" "00023997" "99" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Gly12Arg)" "1" "0000784076" "00023997" "99" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Gly12Arg)" "1" "0000784077" "00023997" "99" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Gly12Arg)" "1" "0000784078" "00023997" "99" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Gly12Arg)" "1" "0000784079" "00023997" "99" "148" "1" "148" "1" "c.148+1G>A" "r.spl" "p.spl?" "1i" "0000784080" "00023997" "55" "688" "0" "688" "0" "c.688C>G" "r.(?)" "p.(Arg230Gly)" "5" "0000784082" "00023997" "95" "691" "0" "691" "0" "c.691G>T" "r.(?)" "p.(Asp231Tyr)" "5" "0000784084" "00023997" "99" "747" "0" "747" "0" "c.747C>G" "r.(?)" "p.(Phe249Leu)" "6" "0000784085" "00023997" "95" "796" "0" "797" "0" "c.796_797del" "r.(?)" "p.(Phe266Argfs*25)" "6" "0000784086" "00023997" "99" "808" "0" "808" "0" "c.808A>G" "r.(?)" "p.(Met270Val)" "6" "0000784087" "00023997" "55" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Ala273Val)" "6" "0000784088" "00023997" "99" "925" "0" "925" "0" "c.925del" "r.(?)" "p.(Asp309Thrfs*54)" "7" "0000784089" "00023997" "95" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383Gln)" "9" "0000784090" "00023997" "95" "1293" "0" "1293" "0" "c.1293C>G" "r.(?)" "p.(Tyr431*)" "10" "0000784091" "00023997" "99" "1297" "0" "1297" "0" "c.1297G>T" "r.(1181_1297del)" "p.?" "10" "0000784092" "00023997" "79" "1324" "0" "1324" "0" "c.1324G>T" "r.(?)" "p.Asp441Tyr" "11" "0000784093" "00023997" "99" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Gly498Arg)" "12" "0000784094" "00023997" "99" "1530" "0" "1530" "0" "c.1530T>G" "r.(?)" "p.(Cys510Trp)" "12" "0000784095" "00023997" "99" "1839" "0" "1839" "0" "c.1839del" "r.(?)" "p.(Asn614Thrfs*138)" "14" "0000784096" "00023997" "99" "2107" "0" "2107" "0" "c.2107G>C" "r.(?)" "p.spl?" "15" "0000784097" "00023997" "95" "2108" "-2" "2108" "-2" "c.2108-2A>G" "r.spl" "p.?" "15i" "0000784098" "00023997" "99" "2188" "0" "2188" "0" "c.2188dup" "r.(?)" "p.(Gln730Profs*?)" "16" "0000784099" "00023997" "95" "2188" "0" "2188" "0" "c.2188dup" "r.(?)" "p.(Gln730Profs*?)" "16" "0000784100" "00023997" "95" "2188" "0" "2188" "0" "c.2188dup" "r.(?)" "p.(Gln730Profs*?)" "16" "0000784101" "00023997" "97" "2350" "0" "2350" "0" "c.2350C>G" "r.(?)" "p.Arg784Gly" "17" "0000784102" "00023997" "79" "2108" "-602" "2108" "-602" "c.2108-602T>C" "r.spl?" "p.(Ter731ArgextTer81)" "20" "0000784103" "00023997" "99" "3202" "0" "3202" "0" "c.*241T>C" "r.(?)" "p.?" "20" "0000784104" "00023997" "99" "3202" "0" "3202" "0" "c.*241T>C" "r.(?)" "p.?" "20" "0000784105" "00023997" "99" "3202" "0" "3202" "0" "c.*241T>C" "r.(?)" "p.?" "20" "0000784106" "00023997" "99" "3202" "0" "3202" "0" "c.*241T>C" "r.(?)" "p.?" "20" "0000803593" "00023997" "30" "6" "0" "6" "0" "c.6C>A" "r.(?)" "p.(Pro2=)" "" "0000803594" "00023997" "30" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Pro104Ser)" "" "0000803595" "00023997" "50" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Ile139Thr)" "" "0000803596" "00023997" "30" "1180" "6" "1180" "6" "c.1180+6G>A" "r.(=)" "p.(=)" "" "0000803597" "00023997" "50" "1250" "0" "1250" "0" "c.1250G>T" "r.(?)" "p.(Arg417Leu)" "" "0000803598" "00023997" "30" "2361" "19" "2361" "19" "c.2361+19A>C" "r.(=)" "p.(=)" "" "0000851891" "00023997" "30" "1639" "12" "1639" "12" "c.1639+12G>C" "r.(=)" "p.(=)" "" "0000851892" "00023997" "50" "2108" "-647" "2108" "-647" "c.2108-647C>G" "r.(=)" "p.(=)" "" "0000861182" "00023997" "30" "-3539" "0" "-3539" "0" "c.-3539G>A" "r.(?)" "p.(=)" "" "0000861183" "00023997" "90" "-2310" "0" "-2310" "0" "c.-2310T>C" "r.(?)" "p.(=)" "" "0000861184" "00023997" "50" "-1848" "0" "-1847" "0" "c.-1848_-1847dup" "r.(?)" "p.(=)" "" "0000861185" "00023997" "30" "-1389" "0" "-1389" "0" "c.-1389C>T" "r.(?)" "p.(=)" "" "0000861186" "00023997" "30" "2847" "0" "2847" "0" "c.2847G>A" "r.(?)" "p.(Ser949=)" "" "0000868561" "00023997" "90" "584" "0" "584" "0" "c.584dup" "r.(?)" "p.(Gln197Profs*10)" "" "0000868562" "00023997" "90" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Cys322Tyr)" "" "0000888307" "00023997" "50" "1597" "0" "1597" "0" "c.1597G>C" "r.(?)" "p.(Gly533Arg)" "" "0000888308" "00023997" "50" "2776" "0" "2776" "0" "c.2776G>C" "r.(?)" "p.(Asp926His)" "" "0000912939" "00023997" "30" "1797" "0" "1797" "0" "c.1797C>T" "r.(?)" "p.(Asn599=)" "" "0000912940" "00023997" "50" "2506" "0" "2506" "0" "c.2506C>T" "r.(?)" "p.(Arg836Cys)" "" "0000924863" "00023997" "30" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Arg106Lys)" "" "0000924864" "00023997" "30" "1728" "0" "1728" "0" "c.1728C>T" "r.(?)" "p.(Pro576=)" "" "0000924865" "00023997" "30" "2406" "0" "2406" "0" "c.2406C>T" "r.(?)" "p.(Tyr802=)" "" "0000929437" "00023997" "50" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Asp491Asn)" "" "0000929438" "00023997" "30" "2187" "0" "2187" "0" "c.2187C>T" "r.(?)" "p.(=)" "" "0000929439" "00023997" "30" "2724" "0" "2724" "0" "c.2724C>T" "r.(?)" "p.(Thr908=)" "" "0000949062" "00023997" "30" "1926" "81" "1926" "81" "c.1926+81del" "r.(=)" "p.(=)" "" "0000964963" "00023997" "30" "149" "-98" "149" "-98" "c.149-98T>G" "r.(=)" "p.(=)" "" "0000978167" "00023997" "50" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(=)" "" "0000978168" "00023997" "30" "551" "132" "551" "132" "c.551+132C>T" "r.(=)" "p.(=)" "" "0000989256" "00023997" "50" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Asp309Asn)" "" "0000989257" "00023997" "50" "449" "0" "449" "0" "c.449T>A" "r.(?)" "p.(Val150Asp)" "" "0000997107" "00023997" "30" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80His)" "" "0000997108" "00023997" "50" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Thr365Met)" "" "0000997109" "00023997" "50" "2351" "0" "2351" "0" "c.2351G>A" "r.(?)" "p.(Arg784Gln)" "" "0000997110" "00023997" "50" "2914" "0" "2914" "0" "c.2914C>T" "r.(?)" "p.(Arg972*)" "" "0001014436" "00023997" "30" "2322" "0" "2322" "0" "c.2322G>A" "r.(?)" "p.(=)" "" "0001025513" "00023997" "30" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(=)" "" "0001036913" "00023997" "30" "1639" "10" "1639" "11" "c.1639+10_1639+11del" "r.(=)" "p.(=)" "" "0001036914" "00023997" "50" "2075" "0" "2075" "0" "c.2075C>T" "r.(?)" "p.(Ser692Phe)" "" "0001036915" "00023997" "50" "2207" "0" "2207" "0" "c.2207A>G" "r.(?)" "p.(His736Arg)" "" "0001036916" "00023997" "70" "2774" "0" "2774" "0" "c.2774del" "r.(?)" "p.(Phe925Serfs*32)" "" "0001048326" "00023997" "90" "2108" "-683" "2108" "-682" "c.2108-683_2108-682del" "r.?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000050259" "0000079211" "0000101066" "0000163510" "0000295787" "0000652476" "0000306323" "0000670011" "0000373817" "0000784074" "0000373818" "0000784075" "0000373819" "0000784076" "0000373819" "0000784095" "0000373820" "0000784077" "0000373820" "0000784098" "0000373821" "0000784078" "0000373822" "0000784079" "0000373822" "0000784092" "0000373823" "0000784080" "0000373825" "0000784082" "0000373827" "0000784084" "0000373828" "0000784085" "0000373828" "0000784097" "0000373829" "0000784086" "0000373829" "0000784091" "0000373830" "0000784087" "0000373831" "0000784088" "0000373831" "0000784093" "0000373832" "0000784089" "0000373832" "0000784090" "0000373833" "0000784094" "0000373834" "0000784096" "0000373834" "0000784106" "0000373835" "0000784099" "0000373836" "0000784100" "0000373837" "0000784101" "0000373838" "0000784102" "0000373839" "0000784103" "0000373840" "0000784104" "0000373841" "0000784105" "0000411441" "0000868561" "0000411441" "0000868562" "0000468492" "0001048326"