![](\"gfx/LOVD_logo_OIFE.png\"){kind=logo}
Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/PLOD2_codingDNA.html" "1" "" "![](\"gfx/LOVD_logo_IDdatabase.png\"){kind=logo}
Osteogenesis Imperfecta Variant Database\r\n" "-1" "" "-1" "00001" "2010-07-02 00:00:00" "00085" "2022-04-05 13:06:28" "00006" "2026-01-11 11:53:25" ## 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}}" "00025505" "PLOD2" "transcript variant 1" "002" "NM_182943.2" "" "NP_891988.1" "" "" "" "-506" "3554" "2277" "145879282" "145787227" "00006" "2020-04-30 17:14:36" "" "" ## 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" "00897" "BRKS2" "Bruck syndrome, type 2 (BRKS2)" "AR" "609220" "" "" "" "00006" "2014-09-25 23:29:40" "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" "05734" "BRKS" "Bruck syndrome (BRKS)" "" "" "" "" "" "00006" "2020-04-30 17:10:30" "00006" "2021-12-10 21:51:32" "07009" "HYC" "hydrocephalus" "" "" "" "" "" "00006" "2023-04-07 10:57:22" "" "" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PLOD2" "00897" "PLOD2" "05734" ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{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}}" "00293240" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300309" "" "" "" "1" "" "01164" "" "" "?" "?" "Finland" "00y" "0" "" "" "" "163927" "00300314" "" "" "" "1" "" "00006" "{PMID:van der Slot 2003:12881513}, {PMID:Breslau-Siderius 1998:9481655}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives; previously reported by Breslau-Siderius (individuals 7 and 8 Table 2)" "F;M" "yes" "Kuwait" "" "0" "" "" "Kurdish" "FamPMPatII1/2, Pat7/8" "00300315" "" "" "" "3" "" "00006" "{PMID:van der Slot 2003:12881513}, {PMID:Breslau-Siderius 1998:9481655}" "2-generation family, 2 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives; previously described by Breslau-Siderius 1998 (individuals 1, 2 and 3 Table 2)" "F;M" "no" "Australia" "" "0" "" "" "" "FamDRPatII1/2/4 Pat1/2/3" "00300316" "" "" "" "1" "" "00006" "{PMID:Ha-Vinh 2004:15523624}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "FamPatII1" "00300319" "" "" "" "1" "" "00006" "{PMID:Puig-Hervas 2012:22689593}" "2-generation family, 1 affected, second cousin parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam3Case3" "00300320" "" "" "" "2" "" "00006" "{PMID:Puig-Hervas 2012:22689593}" "2-generation family, 2 affected sisters, first cousin parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam4Case4" "00300321" "" "" "" "1" "" "00006" "{PMID:Puig-Hervas 2012:22689593}" "2-generation family, 1 affected, second cousin parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam5Case5" "00300322" "" "" "" "1" "" "00006" "{PMID:Puig-Hervas 2012:22689593}" "2-generation family, 1 affected, first cousin parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam6Case6" "00300323" "" "" "" "1" "" "00006" "{PMID:Puig-Hervas 2012:22689593}" "2-generation family, 1 affected, first cousin parents" "M" "yes" "Spain" "" "0" "" "" "" "Fam7Case7" "00300324" "" "" "" "2" "" "00006" "{PMID:Puig-Hervas 2012:22689593}" "2-generation family, 2 affected brothers" "M" "no" "Spain" "" "0" "" "" "" "Fam8Case8-II2" "00300325" "" "" "00300324" "1" "" "00006" "{PMID:Puig-Hervas 2012:22689593}" "brother II3" "M" "no" "Spain" "" "0" "" "" "" "Fam8Case9-II3" "00300327" "" "" "" "1" "" "00006" "{PMID:Zhou 2014:25238597}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Fam2Pat2" "00300330" "" "" "" "1" "" "00006" "{PMID:Caparros-Martin 2016:28116328}" "" "" "yes" "Egypt" "" "0" "" "" "" "Fam91" "00300331" "" "" "" "2" "" "00006" "{PMID:Caparros-Martin 2016:28116328}" "" "" "yes" "Egypt" "" "0" "" "" "" "Fam1020" "00300333" "" "" "" "1" "" "00006" "{PMID:Ly 2018:29177700}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Fam1Pat1" "00300334" "" "" "" "1" "" "00006" "{PMID:Ly 2018:29177700}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Fam2Pat2" "00300335" "" "" "" "1" "" "00006" "{PMID:Ly 2018:29177700}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Fam3Pat3" "00300337" "" "" "" "2" "" "00006" "{PMID:Leal 2018:29178448}" "family, 2 fetuses" "M" "no" "Italy;Sweden;Finland" "<0d" "0" "" "" "" "Fam1Pat1" "00300338" "" "" "00300337" "1" "" "00006" "{PMID:Leal 2018:29178448}" "" "F" "no" "Italy;Sweden;Finland" "<0d" "0" "" "" "" "Fam1Pat2" "00300339" "" "" "" "1" "" "00006" "{PMID:Leal 2018:29178448}" "" "M" "no" "Brazil" "3m" "0" "" "" "" "Fam2Pat2" "00300340" "" "" "" "2" "" "00006" "{PMID:Leal 2018:29178448}" "family, 2 affected" "F" "yes" "Afghanistan" "" "0" "" "" "" "Fam3Pat3" "00300341" "" "" "00300340" "1" "" "00006" "{PMID:Leal 2018:29178448}" "" "F" "yes" "Afghanistan" "" "0" "" "" "" "Fam3Pat4" "00300342" "" "" "" "1" "" "00006" "{PMID:Leal 2018:29178448}" "" "M" "yes" "Palestine" "" "0" "" "" "" "Fam4Pat4" "00300343" "" "" "" "1" "" "00006" "{PMID:Mumm 2020:31472299}" "" "F" "" "United States" "" "0" "" "" "England;Ireland;Germany" "Pat" "00300344" "" "" "" "1" "" "00006" "{PMID:Santana 2019:31001443}" "" "F" "" "United States" "" "0" "" "" "" "Case2" "00300346" "" "" "" "1" "" "00006" "Arora 2018 (Genetic Clinics 11:6-10)" "" "M" "" "India" "" "0" "" "" "" "Pat" "00300378" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam32" "00372761" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}, {PMID:Li 2020:33093841}" "patient, no family history" "" "" "China" "" "0" "" "" "" "PUMC-320" "00434802" "" "" "" "1" "" "00006" "{PMID:Furey 2018:29983323}" "2-generation family, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "Hydro229-1" "00434803" "" "" "" "1" "" "00006" "{PMID:Furey 2018:29983323}" "2-generation family, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "Hydro451-1" "00470708" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected father" "F" "" "Poland" "" "0" "" "" "" "Pat69" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 32 "{{individualid}}" "{{diseaseid}}" "00293240" "00198" "00300309" "00198" "00300314" "05734" "00300315" "05734" "00300316" "05734" "00300319" "05296" "00300320" "05296" "00300321" "05296" "00300322" "05296" "00300323" "05296" "00300324" "05296" "00300325" "05296" "00300327" "05296" "00300330" "05296" "00300331" "05296" "00300333" "05296" "00300334" "05296" "00300335" "05296" "00300337" "05296" "00300338" "05296" "00300339" "05296" "00300340" "05296" "00300341" "05296" "00300342" "05296" "00300343" "05296" "00300344" "05296" "00300346" "05296" "00300378" "05296" "00372761" "05296" "00434802" "07009" "00434803" "07009" "00470708" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00897, 05296, 05734, 07009, 07210 ## Count = 31 "{{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}}" "0000227624" "00198" "00300309" "01164" "Unknown" "" "Miscarriage 18+0, Karyotype from placental sample: mos 47, XY,+12(2)/ 46,XY (28), Array CGH from DNA of skin sample of fetus mortus was normal, obduction revealed cleft palate and gastroschisis or omphalocele, previous pregnancy miscarried 33+0, obduction: no structural abnormalities" "" "" "" "" "" "" "" "" "BRKS2" "" "" "0000227625" "05734" "00300314" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227626" "05734" "00300315" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227627" "05734" "00300316" "00006" "Familial, autosomal recessive" "" "see paper; ..., 1d-congenital contractures with pterygia; severe OI-like osteopenia, multiple fractures" "" "" "" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227630" "05296" "00300319" "00006" "Familial, autosomal recessive" "" "onset fractures 7d; fractures different sites both upper and lower limbs (7y->30 fractures); 1d-contracture both elbows, wrists, knees and ankles, bilateral talipes; pterygium both elbows, knees and axilla; protruding chest with flaring lower ribs; kyphoscoliosis; white sclera; high arched palate, enamel hypoplasia and hypocalcification, dental caries; no hearing impairment; severe bowing bones, bilateral clasped thumbs, arachnodactyly; delayed gross motor development, 7y-no unsupported standing; 16m-eight 9 kg (-2.1SD), length 72.0 cm (-3.0SD), OFC 45.8 cm (-1.3SD); 7y-weight 16.6 kg (-2.2SD), length 101.0 cm (-3.6SD), OFC 51.4 cm (-0.5SD); Wormian bones skull; severe platyspondyly, coronal clefts, widening metaphyses, multiple fractures with callus formation and angulation both humeri and femora, fair bone modelling; 4y-osteopenia spine (Z-score: -1.23), osteopenia femur (Z-score: -1.52)" "7d" "" "congenital contractures, recurrent fractures" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227631" "05296" "00300320" "00006" "Familial, autosomal recessive" "" "onset fractures 9m; fractures both femora; 1d-contracture both knees, talipes deformity; pterygium both knees; narrow chest with flaring lower ribs; mild kyphoscoliosis; white sclera; high arched palate, enamel hypocalcification; no hearing impairment;; delayed gross motor development, 2y6m-no unsupported sitting; 2y6m-weight 8.5 kg (-3.0SD), OFC 46.5 cm (-2.0SD); Wormian bones skull; generalized decreased bone density, broad metaphyses, loss bone modelling, fracture upper 1/3 femur, thin tibiae and fibulae with bowing and cystic changes epiphyses lower femur, upper and lower tibiae, contracture knees, old fractures ribs, scoliosis, compressed thoracic vertebrae, deformed right clavicle, old partially united fracture right ulna, both femoral shafts with angulation, fair bone modelling;" "9m" "" "delayed milestones, congenital contracture deformities" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227632" "05296" "00300321" "00006" "Familial, autosomal recessive" "" "onset fractures birth; 8 fractures in all limbs (more lower limbs); 1d-contracture both knees and elbows (more left side), right talipes equinovalgus, camptodactyly 3-5 fingers bilaterally; pterygium both elbows, knees and axilla; short narrow protruding chest; left scoliosis thoracic vertebrae kyphosis lumbar vertebrae; white sclera; high arched palate, wide overjet; no hearing impairment; birth left shoulder dislocation resolved spontaneously, depressed medial border left scapula, bilateral clasped thumbs, internal rotation right leg, dimple on anterior surface both knees; delayed gross motor development, 2y-no unsupported sitting; 1y-weight 8.0 kg (-2.0SD), OFC 43.7 cm (-1.75SD); Wormian bones skull; irregularity both humeri (diaphyseal dysplasia), bowing both femora, fractures at different ages healing humeri, femora and ribs Kyphoscoliosis with mild compression thoracic vertebrae, loss bone modelling; 1y-osteoporosis femur (Z-score: -2.68), osteopenia spine (Z-score: -1.59)" "1d" "" "congenital contractures, recurrent fractures" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227633" "05296" "00300322" "00006" "Familial, autosomal recessive" "" "onset fractures birth; fractures left clavicle, both forearms, ribs, femora; 1d-contracture both knees and elbows, camptodactyly left 4th and 5th fingers and right 5th finger, bilateral talipes deformity; pterygium both elbows and knees, webbing fingers; short chest with flaring lower ribs, pectus carinatum; scoliosis; white sclera; high arched palate, brownish discoloration teeth, dental caries; no hearing impairment; bilateral simian crease; severe bone deformities, bowing and angulations upper and lower limbs, arachnodactyly; delayed gross motor development, 5y-aided walk; 1y-weight 6.5 kg (-3.7SD), length 63.0 cm (-5.0SD), OFC 42.7 cm (-2.5SD); 6y-weight 12.0 kg (-3.4SD), length 89.0 cm (-4.8SD), OFC 49.0 cm (-2.1SD); Wormian bones skull; decreased bone density, severe bowing and angulations long bones lower limbs, cystic changes lower femoral and upper tibial metaphyses, bilateral transverse fractures femora, left transverse fractures radius and ulna, old fractures ribs, malunion femur fractures and left forearm, fracture both upper humerus, scoliosis, loss bone modelling; 1y-marked osteoporosis lumbar spine (Z-score: -5.66), proximal femur (Z-score: -5.5) and distal radius" "1d" "" "congenital contractures, recurrent fractures" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227634" "05296" "00300323" "00006" "Familial, autosomal recessive" "" "onset fractures 2y; average 10 fractures/year, mainly lower limbs; no contractures; no pterygium; deformed chest with flaring ribs; severe kyphoscoliosis thoracic and lumbar vertebrae; white sclera; no oro-dental anomalies; no hearing impairment; generalized hypotonia, muscle wasting, partial ptosis eye lids, short philtrum, macrostomia, thick lips, thick upper ear helices, short neck; dislocation left shoulder joint, prominent clavicles, arachnodactyly fingers, prominent knee joints, anterior bowing right leg, bilateral clinodactyly 5th toes; difficulty walking with limping; 12y-weight normal range, length -4.3SD, OFC normal range; Wormian bones skull; diffuse decreased bone texture, thin long bones upper and lower limbs, multiple malunited fractures lower limbs with callus formation, bowing tibia and fibulae, metaphyseal widening lower ends femora, crowded deformed ribs; 15y-osteoporosis left hip (Z-score: -2.29), osteopenia spine (Z-score: -1.34)" "2y" "" "recurrent fractures" "" "" "" "" "" "OI III" "osteogenesis imperfecta" "" "0000227635" "05296" "00300324" "00006" "Familial, autosomal recessive" "" "onset fractures 17 months; two fractures, one in each tibia; no contractures; no pterygium; normal chest; very mild scoliosis; white sclera; no oro-dental anomalies; no hearing impairment; pes valgus; slight bowing legs (tibia vara); normal gross motor development; weight normal range, length normal range, OFC normal range; no Wormian bones skull; decreased bone density, more severe in limbs, mild bowing tibias, thoracic-lumbar scoliosis; 12y-osteoporosis lumbar spine (Z-score: -2.45)" "17m" "" "fractures" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227636" "05296" "00300325" "00006" "Familial, autosomal recessive" "" "onset fractures 3m; 25-30 fractures in limbs (more right femur); cervical contracture (torticollis) during first month life; no pterygium; normal chest; no scoliosis; greyish-blue sclera; no oro-dental anomalies; no hearing impairment; bilateral palpebral ptosis, corrected strabismus; bowing right femur with external rotation hips, corrected tibial bowing; delayed gross motor development, 9m-sit, 15m-walk, 20m-lost ability to walk, 7y-walk with aid; weight normal range, length normal range, OFC normal range; Wormian bones skull; decreased bone density, more severe in limbs, bowing femur and tibias, fractures femora at different ages healing; 3y-generalized osteoporosis (Z-score: -3.5), 4y-generalized osteopenia (Z-score: -1.4), 5y-generalized osteopenia (Z-score: -0.84)" "3m" "" "bone fragility, postnatal mobility problems" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227638" "05296" "00300327" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227639" "05296" "00300330" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "OI IV" "osteogenesis imperfecta" "" "0000227640" "05296" "00300331" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "OI III" "osteogenesis imperfecta" "" "0000227641" "05296" "00300333" "00006" "Familial, autosomal recessive" "11y" "height 140cm (25th), weight 39kg (50th–75th); congenital joint contractures ; 3m-first fracture; 3 fractures; scoliosis ; clubfeet ; camptodactyly ; no pterygia ; white sclera; no dentinogenesis imperfecta ; no hearing impairment ; Wormian bones" "" "" "" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227642" "05296" "00300334" "00006" "Familial, autosomal recessive" "05y" "height 101cm (<3rd), weight 16kg (<3rd); congenital joint contractures ; 1y-first fracture; 4 fractures; no scoliosis ; no clubfeet ; camptodactyly ; no pterygia ; blue–gray sclera; no dentinogenesis imperfecta ; no hearing impairment ; Wormian bones" "" "" "" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227643" "05296" "00300335" "00006" "Familial, autosomal recessive" "02y" "height 93cm (50th), weight 13.5kg (25th–50th); congenital joint contractures ; 2m-first fracture; 3 fractures; no scoliosis ; no clubfeet ; camptodactyly ; pterygia ; white sclera; no dentinogenesis imperfecta ; no hearing impairment ; Wormian bones" "" "" "" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227644" "05296" "00300337" "00006" "Familial, autosomal recessive" "<0d" "15w-missed abortion; fractures at birth, multiple pretal fractures; angulated long bones; under-mineralized skull; hypertelorism, broad nose" "" "" "" "" "" "" "" "" "" "severe kyphomelic dysplasia" "" "0000227645" "05296" "00300338" "00006" "Familial, autosomal recessive" "<0d" "13w-pregancy terminated; fractures at birth, multiple pretal fractures; angulated long bones; under-mineralized skull" "" "" "" "" "" "" "" "" "" "severe kyphomelic dysplasia" "" "0000227646" "05296" "00300339" "00006" "Familial, autosomal recessive" "3m" "3m-died of respiratory failure; 1d-camptodactyly; no clubfeet, feet in varus; multiple rib and clavicle fractures at birth, 2m-humerus fracture; angulated long bones; no osteopenia; mandibular hypoplasia, retrogthia, prominent eyes, broad sal root, facial nevus flammeus, cleft palate, skin dimples; ventricular septal defect, respiratory and feeding difficulties" "" "" "" "" "" "" "" "" "" "suspected kyphomelic dysplasia" "" "0000227647" "05296" "00300340" "00006" "Familial, autosomal recessive" "18y" "1d-contractures elbows, hips, knee and ankle joints; no clubfeet, feet in varus; no fractures at birth, 3y-multiple healed and non-healed fractures in arms, legs and vertebrae, >3y-multiple fracture; bowed long bones; Wormian bones; osteoporosis, no osteopenia; normal sclera, nornal teeth; severe kypho-scoliosis, pectus caritum; no dysmorphology; 18y-length 129cm (-5.1), weight 26kg, OFC 54.5cm; motor development can bottom shuffle; non-developed left patella, BiPAP during night time since 12y, severe protrusio acetabuli, continuous pain" "" "" "" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227649" "05296" "00300341" "00006" "Familial, autosomal recessive" "7m" "no contractures at birth; no clubfeet; multiple healed and non-healed fractures in arms and ribs, 7m-bilateral cervical fractures on atlas and axis and a fracture of C4; slightly curved lower legs; Wormian bones; grey-white sclera; no scoliosis; 7m-length 68cm (+0.31), weight 6.60 kg (-1.13), OFC 40.9cm (-1.46); motor development sit with support; brachial plexus injury, torticollis secondary to fractures in cervical spine" "" "" "" "" "" "" "" "" "BRKS2" "Bruck syndrome" "" "0000227650" "05296" "00300342" "00006" "Familial, autosomal recessive" "17y" "no contractures at birth; no clubfeet; no fractures at birth, 2y-stress fracture left tibia, >2y 5 fractures; no bowed long bones; osteoporosis, no osteopenia; white sclera, normal teeth; no scoliosis; no dysmorphology; 17y-length 174.5cm (z−0.1), weight 83.4kg; motor development walk without support; severe pain" "" "" "" "" "" "" "" "" "" "moderate osteogenesis imperfecta" "" "0000227651" "05296" "00300343" "00006" "Familial, autosomal recessive" "21y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000227652" "05296" "00300344" "00006" "Familial, autosomal recessive" "24y" "see paper; ..." "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000227654" "05296" "00300346" "00006" "Familial, autosomal recessive" "08y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bruck syndrome" "" "0000227686" "05296" "00300378" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type IV" "" "0000325046" "07009" "00434802" "00006" "Unknown" "" "congenital hydrocephalus" "" "" "" "" "" "" "" "" "" "hydrocephalus" "" "0000325047" "07009" "00434803" "00006" "Unknown" "" "congenital hydrocephalus" "" "" "" "" "" "" "" "" "" "hydrocephalus" "" "0000355602" "07210" "00470708" "00006" "Familial" "14y" "see paper; ... scoliosis, no other skeletal defects; back pain; aphasia; no physical activity" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" "0000356947" "05296" "00372761" "00006" "Familial, autosomal recessive" "" "0.08 y-first fracture, 20 fractures; height Z -1.09; no scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis" "" "" "" "" "" "" "" "" "BRKS2" "osteogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000294408" "00293240" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301430" "00300309" "1" "01164" "01164" "2020-04-30 10:13:50" "" "" "SEQ-NG-I" "DNA" "DNA from from fetus mortus" "" "0000301435" "00300314" "1" "00006" "00006" "2020-04-30 18:00:33" "" "" "SEQ" "DNA" "" "" "0000301436" "00300315" "1" "00006" "00006" "2020-04-30 18:09:11" "" "" "SEQ" "DNA" "" "" "0000301437" "00300316" "1" "00006" "00006" "2020-04-30 18:20:09" "" "" "SEQ" "DNA" "" "" "0000301440" "00300319" "1" "00006" "00006" "2020-05-01 10:04:19" "" "" "SEQ" "DNA" "" "" "0000301441" "00300320" "1" "00006" "00006" "2020-05-01 10:04:19" "" "" "SEQ" "DNA" "" "" "0000301442" "00300321" "1" "00006" "00006" "2020-05-01 10:04:19" "" "" "SEQ" "DNA" "" "" "0000301443" "00300322" "1" "00006" "00006" "2020-05-01 10:04:19" "" "" "SEQ" "DNA" "" "" "0000301444" "00300323" "1" "00006" "00006" "2020-05-01 10:04:19" "" "" "SEQ" "DNA" "" "" "0000301445" "00300324" "1" "00006" "00006" "2020-05-01 10:04:19" "" "" "SEQ" "DNA" "" "" "0000301446" "00300325" "1" "00006" "00006" "2020-05-01 10:04:19" "" "" "SEQ" "DNA" "" "" "0000301448" "00300327" "1" "00006" "00006" "2020-05-01 10:47:58" "" "" "SEQ" "DNA" "" "" "0000301451" "00300330" "1" "00006" "00006" "2020-05-01 11:23:29" "" "" "SEQ" "DNA" "" "" "0000301452" "00300331" "1" "00006" "00006" "2020-05-01 11:26:38" "" "" "SEQ" "DNA" "" "" "0000301454" "00300333" "1" "00006" "00006" "2020-05-01 11:34:44" "" "" "SEQ" "DNA" "" "" "0000301455" "00300334" "1" "00006" "00006" "2020-05-01 11:34:44" "" "" "SEQ" "DNA" "" "" "0000301456" "00300335" "1" "00006" "00006" "2020-05-01 11:34:44" "" "" "SEQ" "DNA" "" "" "0000301457" "00300337" "1" "00006" "00006" "2020-05-01 12:31:01" "" "" "SEQ" "DNA" "" "" "0000301458" "00300338" "1" "00006" "00006" "2020-05-01 12:31:01" "" "" "SEQ" "DNA" "" "" "0000301459" "00300339" "1" "00006" "00006" "2020-05-01 12:31:01" "" "" "SEQ" "DNA" "" "" "0000301460" "00300340" "1" "00006" "00006" "2020-05-01 12:31:01" "" "" "SEQ" "DNA" "" "" "0000301461" "00300341" "1" "00006" "00006" "2020-05-01 12:31:01" "" "" "SEQ" "DNA" "" "" "0000301462" "00300342" "1" "00006" "00006" "2020-05-01 12:31:01" "" "" "SEQ" "DNA" "" "" "0000301464" "00300343" "1" "00006" "00006" "2020-05-01 13:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000301465" "00300344" "1" "00006" "00006" "2020-05-01 13:17:14" "" "" "SEQ" "DNA" "" "" "0000301467" "00300346" "1" "00006" "00006" "2020-05-01 13:31:05" "" "" "SEQ" "DNA" "" "" "0000301499" "00300378" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000373994" "00372761" "1" "03894" "03894" "2018-09-26 05:59:34" "" "" "PCR;SEQ" "DNA" "" "" "0000436274" "00434802" "1" "00006" "00006" "2023-04-07 13:45:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436275" "00434803" "1" "00006" "00006" "2023-04-07 13:45:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472375" "00470708" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{geneid}}" "0000301430" "PLOD2" "0000301435" "PLOD2" "0000301436" "PLOD2" "0000301437" "PLOD2" "0000301440" "PLOD2" "0000301441" "PLOD2" "0000301442" "PLOD2" "0000301443" "PLOD2" "0000301444" "PLOD2" "0000301445" "PLOD2" "0000301446" "PLOD2" "0000301448" "PLOD2" "0000301451" "PLOD2" "0000301452" "PLOD2" "0000301454" "PLOD2" "0000301455" "PLOD2" "0000301456" "PLOD2" "0000301457" "PLOD2" "0000301458" "PLOD2" "0000301459" "PLOD2" "0000301460" "PLOD2" "0000301461" "PLOD2" "0000301462" "PLOD2" "0000301464" "PLOD2" "0000301465" "PLOD2" "0000301467" "PLOD2" "0000301499" "PLOD2" "0000373994" "PLOD2" ## 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 = 91 "{{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}}" "0000250087" "0" "10" "3" "145788552" "145788552" "subst" "0.0011139" "02329" "PLOD2_000021" "g.145788552A>G" "" "" "" "PLOD2(NM_182943.3):c.2229T>C (p.P743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146070765A>G" "" "benign" "" "0000250418" "0" "30" "3" "145791151" "145791151" "subst" "0" "02329" "PLOD2_000022" "g.145791151A>G" "" "" "" "PLOD2(NM_182943.3):c.1678-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146073364A>G" "" "likely benign" "" "0000250547" "0" "50" "3" "145804625" "145804625" "subst" "9.53053E-6" "02329" "PLOD2_000027" "g.145804625A>C" "" "" "" "PLOD2(NM_182943.3):c.1076T>G (p.I359R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146086838A>C" "" "VUS" "" "0000254319" "0" "30" "3" "145838931" "145838931" "subst" "4.06818E-6" "01943" "PLOD2_000029" "g.145838931A>T" "" "" "" "PLOD2(NM_000935.2):c.306T>A (p.(Asp102Glu)), PLOD2(NM_182943.2):c.306T>A (p.D102E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146121144A>T" "" "likely benign" "" "0000297132" "0" "10" "3" "145803138" "145803138" "subst" "0" "02325" "PLOD2_000025" "g.145803138T>C" "" "" "" "PLOD2(NM_182943.3):c.1128-78A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146085351T>C" "" "benign" "" "0000297133" "0" "10" "3" "145803142" "145803142" "subst" "0" "02325" "PLOD2_000026" "g.145803142T>A" "" "" "" "PLOD2(NM_182943.3):c.1128-82A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146085355T>A" "" "benign" "" "0000297134" "0" "10" "3" "145796891" "145796891" "subst" "0.269559" "02325" "PLOD2_000024" "g.145796891T>C" "" "" "" "PLOD2(NM_182943.3):c.1500+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146079104T>C" "" "benign" "" "0000297135" "0" "10" "3" "145838895" "145838895" "subst" "0.763078" "02325" "PLOD2_000028" "g.145838895C>T" "" "" "" "PLOD2(NM_182943.3):c.338+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146121108C>T" "" "benign" "" "0000298916" "0" "10" "3" "145796891" "145796891" "subst" "0.269559" "02329" "PLOD2_000024" "g.145796891T>C" "" "" "" "PLOD2(NM_182943.3):c.1500+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146079104T>C" "" "benign" "" "0000298917" "0" "30" "3" "145794701" "145794701" "subst" "8.31608E-6" "02329" "PLOD2_000023" "g.145794701C>T" "" "" "" "PLOD2(NM_182943.3):c.1564-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146076914C>T" "" "likely benign" "" "0000298918" "0" "10" "3" "145838895" "145838895" "subst" "0.763078" "02329" "PLOD2_000028" "g.145838895C>T" "" "" "" "PLOD2(NM_182943.3):c.338+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146121108C>T" "" "benign" "" "0000518222" "0" "50" "3" "145790424" "145790424" "subst" "0" "01943" "PLOD2_000039" "g.145790424A>T" "" "" "" "PLOD2(NM_182943.2):c.1772T>A (p.I591K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146072637A>T" "" "VUS" "" "0000518223" "0" "10" "3" "145822093" "145822093" "subst" "0.00362192" "02329" "PLOD2_000031" "g.145822093T>C" "" "" "" "PLOD2(NM_000935.2):c.652A>G (p.(Ile218Val)), PLOD2(NM_182943.3):c.652A>G (p.I218V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146104306T>C" "" "benign" "" "0000518225" "0" "30" "3" "145838931" "145838931" "subst" "4.06818E-6" "01804" "PLOD2_000029" "g.145838931A>T" "" "" "" "PLOD2(NM_000935.2):c.306T>A (p.(Asp102Glu)), PLOD2(NM_182943.2):c.306T>A (p.D102E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146121144A>T" "" "likely benign" "" "0000608372" "0" "30" "3" "145788815" "145788815" "subst" "0.000259815" "02329" "PLOD2_000034" "g.145788815A>G" "" "" "" "PLOD2(NM_182943.3):c.2121+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146071028A>G" "" "likely benign" "" "0000608373" "0" "30" "3" "145822093" "145822093" "subst" "0.00362192" "01804" "PLOD2_000031" "g.145822093T>C" "" "" "" "PLOD2(NM_000935.2):c.652A>G (p.(Ile218Val)), PLOD2(NM_182943.3):c.652A>G (p.I218V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146104306T>C" "" "likely benign" "" "0000608374" "0" "30" "3" "145828099" "145828099" "subst" "8.53735E-5" "01943" "PLOD2_000035" "g.145828099T>A" "" "" "" "PLOD2(NM_182943.2):c.475A>T (p.I159F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146110312T>A" "" "likely benign" "" "0000651097" "1" "50" "3" "145828192" "145828192" "subst" "0.000655201" "03575" "PLOD2_000036" "g.145828192T>C" "9/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs200569129}" "Germline" "" "rs200569129" "0" "" "" "g.146110405T>C" "" "VUS" "" "0000664362" "0" "50" "3" "145809663" "145809663" "subst" "8.13603E-6" "01164" "PLOD2_000038" "g.145809663T>G" "" "" "" "" "ACMG PM2, PM3, PP3" "Germline" "?" "" "0" "" "" "g.146091876T>G" "" "VUS" "ACMG" "0000664363" "0" "70" "3" "145828077" "145828077" "subst" "0.000211492" "01164" "PLOD2_000017" "g.145828077G>C" "" "" "" "" "ACMG PVS1, PM2, PM3" "Germline" "?" "" "0" "" "" "g.146110290G>C" "" "pathogenic (recessive)" "ACMG" "0000664371" "3" "90" "3" "145789194" "145789194" "subst" "0" "00006" "PLOD2_000003" "g.145789194C>A" "" "{PMID:van der Slot 2003:12881513}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146071407C>A" "" "pathogenic (recessive)" "" "0000664372" "3" "90" "3" "145789173" "145789173" "subst" "0" "00006" "PLOD2_000002" "g.145789173G>A" "" "{PMID:van der Slot 2003:12881513}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146071386G>A" "" "pathogenic (recessive)" "" "0000664373" "3" "90" "3" "145789203" "145789203" "subst" "1.22286E-5" "00006" "PLOD2_000001" "g.145789203C>T" "" "{PMID:Ha-Vinh 2004:15523624}" "" "" "" "Germline" "" "" "0" "" "" "g.146071416C>T" "" "pathogenic (recessive)" "" "0000664376" "3" "90" "3" "145789203" "145789203" "subst" "1.22286E-5" "00006" "PLOD2_000001" "g.145789203C>T" "" "{PMID:Puig-Hervas 2012:22689593}" "" "" "" "Germline" "" "" "0" "" "" "g.146071416C>T" "" "pathogenic (recessive)" "" "0000664377" "3" "90" "3" "145789203" "145789203" "subst" "1.22286E-5" "00006" "PLOD2_000001" "g.145789203C>T" "" "{PMID:Puig-Hervas 2012:22689593}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146071416C>T" "" "pathogenic (recessive)" "" "0000664378" "3" "90" "3" "145795658" "145795658" "dup" "0" "00006" "PLOD2_000004" "g.145795658dup" "" "{PMID:Puig-Hervas 2012:22689593}" "" "1559dupC" "" "Germline" "" "" "0" "" "" "g.146077871dup" "" "pathogenic (recessive)" "" "0000664379" "3" "90" "3" "145795658" "145795658" "dup" "0" "00006" "PLOD2_000004" "g.145795658dup" "" "{PMID:Puig-Hervas 2012:22689593}" "" "1559dupC" "" "Germline" "" "" "0" "" "" "g.146077871dup" "" "pathogenic (recessive)" "" "0000664380" "3" "90" "3" "145799520" "145799520" "subst" "0" "00006" "PLOD2_000005" "g.145799520C>T" "" "{PMID:Puig-Hervas 2012:22689593}" "" "" "effect on splicing confirmed in mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.146081733C>T" "" "pathogenic (recessive)" "" "0000664381" "11" "90" "3" "145789195" "145789195" "subst" "0" "00006" "PLOD2_000006" "g.145789195C>A" "" "{PMID:Puig-Hervas 2012:22689593}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146071408C>A" "" "pathogenic (recessive)" "" "0000664382" "11" "90" "3" "145789195" "145789195" "subst" "0" "00006" "PLOD2_000006" "g.145789195C>A" "" "{PMID:Puig-Hervas 2012:22689593}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146071408C>A" "" "pathogenic (recessive)" "" "0000664383" "21" "90" "3" "145788661" "145788661" "subst" "0" "00006" "PLOD2_000007" "g.145788661T>C" "" "{PMID:Puig-Hervas 2012:22689593}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146070874T>C" "" "pathogenic (recessive)" "" "0000664384" "21" "90" "3" "145788661" "145788661" "subst" "0" "00006" "PLOD2_000007" "g.145788661T>C" "" "{PMID:Puig-Hervas 2012:22689593}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146070874T>C" "" "pathogenic (recessive)" "" "0000664386" "11" "90" "3" "145794623" "145794623" "del" "0" "00006" "PLOD2_000008" "g.145794623del" "" "{PMID:Zhou 2014:25238597}" "" "1624delT" "" "Germline" "" "" "0" "" "" "g.146076836del" "" "pathogenic (recessive)" "" "0000664388" "21" "90" "3" "145789179" "145789179" "subst" "4.07711E-6" "00006" "PLOD2_000009" "g.145789179A>G" "" "{PMID:Zhou 2014:25238597}" "" "" "" "Germline" "" "" "0" "" "" "g.146071392A>G" "" "pathogenic (recessive)" "" "0000664391" "3" "90" "3" "145799520" "145799520" "subst" "0" "00006" "PLOD2_000005" "g.145799520C>T" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "" "" "0" "" "" "g.146081733C>T" "" "pathogenic (recessive)" "" "0000664395" "3" "90" "3" "145790368" "145790368" "subst" "0" "00006" "PLOD2_000010" "g.145790368A>G" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146072581A>G" "" "pathogenic (recessive)" "" "0000664397" "21" "90" "3" "145803050" "145803050" "subst" "1.62827E-5" "00006" "PLOD2_000012" "g.145803050G>A" "" "{PMID:Lv 2018:29177700}" "" "" "" "Germline" "" "" "0" "" "" "g.146085263G>A" "" "pathogenic (recessive)" "" "0000664398" "21" "90" "3" "145803035" "145803035" "subst" "0" "00006" "PLOD2_000013" "g.145803035A>G" "" "{PMID:Lv 2018:29177700}" "" "" "" "Germline" "" "" "0" "" "" "g.146085248A>G" "" "pathogenic (recessive)" "" "0000664399" "11" "90" "3" "145803050" "145803050" "subst" "1.62827E-5" "00006" "PLOD2_000012" "g.145803050G>A" "" "{PMID:Lv 2018:29177700}" "" "" "" "Germline" "" "" "0" "" "" "g.146085263G>A" "" "pathogenic (recessive)" "" "0000664400" "11" "90" "3" "145824433" "145824433" "subst" "0" "00006" "PLOD2_000011" "g.145824433T>C" "" "{PMID:Lv 2018:29177700}" "" "" "" "Germline" "" "" "0" "" "" "g.146106646T>C" "" "pathogenic (recessive)" "" "0000664401" "11" "90" "3" "145789077" "145789077" "subst" "1.22216E-5" "00006" "PLOD2_000014" "g.145789077C>T" "" "{PMID:Lv 2018:29177700}" "" "" "" "Germline" "" "" "0" "" "" "g.146071290C>T" "" "pathogenic (recessive)" "" "0000664402" "21" "90" "3" "145788912" "145788912" "subst" "0" "00006" "PLOD2_000015" "g.145788912G>A" "" "{PMID:Lv 2018:29177700}" "" "" "" "Germline" "" "" "0" "" "" "g.146071125G>A" "" "pathogenic (recessive)" "" "0000664403" "21" "90" "3" "145790442" "145790442" "subst" "0" "00006" "PLOD2_000016" "g.145790442T>A" "" "{PMID:Leal 2018:29178448}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146072655T>A" "" "likely pathogenic (recessive)" "ACMG" "0000664404" "21" "90" "3" "145790442" "145790442" "subst" "0" "00006" "PLOD2_000016" "g.145790442T>A" "" "{PMID:Leal 2018:29178448}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146072655T>A" "" "likely pathogenic (recessive)" "ACMG" "0000664405" "3" "90" "3" "145791135" "145791135" "subst" "0" "00006" "PLOD2_000018" "g.145791135C>T" "" "{PMID:Leal 2018:29178448}" "" "" "" "Germline" "" "" "0" "" "" "g.146073348C>T" "" "likely pathogenic (recessive)" "ACMG" "0000664406" "3" "90" "3" "145788890" "145788890" "subst" "0" "00006" "PLOD2_000019" "g.145788890T>C" "" "{PMID:Leal 2018:29178448}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146071103T>C" "" "VUS" "ACMG" "0000664407" "3" "90" "3" "145788890" "145788890" "subst" "0" "00006" "PLOD2_000019" "g.145788890T>C" "" "{PMID:Leal 2018:29178448}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146071103T>C" "" "VUS" "ACMG" "0000664408" "3" "90" "3" "145790432" "145790432" "subst" "0" "00006" "PLOD2_000040" "g.145790432C>A" "" "{PMID:Leal 2018:29178448}" "" "" "" "Germline" "" "" "0" "" "" "g.146072645C>A" "" "VUS" "ACMG" "0000664409" "11" "90" "3" "145828077" "145828077" "subst" "0.000211492" "00006" "PLOD2_000017" "g.145828077G>C" "" "{PMID:Leal 2018:29178448}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146110290G>C" "" "likely pathogenic (recessive)" "ACMG" "0000664410" "11" "90" "3" "145828077" "145828077" "subst" "0.000211492" "00006" "PLOD2_000017" "g.145828077G>C" "" "{PMID:Leal 2018:29178448}" "" "" "" "Germline" "yes" "" "0" "" "" "g.146110290G>C" "" "likely pathogenic (recessive)" "ACMG" "0000664412" "11" "70" "3" "145809669" "145809669" "subst" "3.66259E-5" "00006" "PLOD2_000041" "g.145809669C>A" "" "{PMID:Mumm 2020:31472299}" "" "" "" "Germline" "" "" "0" "" "" "g.146091882C>A" "" "likely pathogenic (recessive)" "" "0000664413" "21" "70" "3" "145799603" "145799603" "subst" "0" "00006" "PLOD2_000042" "g.145799603T>C" "" "{PMID:Mumm 2020:31472299}" "" "" "" "Germline" "" "" "0" "" "" "g.146081816T>C" "" "likely pathogenic (recessive)" "" "0000664414" "3" "70" "3" "145824417" "145824417" "subst" "0" "00006" "PLOD2_000043" "g.145824417C>G" "" "{PMID:Santana 2019:31001443}" "" "" "" "Germline" "" "" "0" "" "" "g.146106630C>G" "" "likely pathogenic (recessive)" "" "0000664417" "3" "70" "3" "145809669" "145809669" "subst" "3.66259E-5" "00006" "PLOD2_000041" "g.145809669C>A" "" "Arora 2018 (Genetic Clinics 11:6-10)" "" "" "" "Germline" "" "" "0" "" "" "g.146091882C>A" "" "likely pathogenic (recessive)" "ACMG" "0000664449" "1" "90" "3" "145824433" "145824433" "subst" "0" "00006" "PLOD2_000011" "g.145824433T>C" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.146106646T>C" "" "pathogenic (recessive)" "" "0000664458" "2" "90" "3" "145803050" "145803050" "subst" "1.62827E-5" "00006" "PLOD2_000012" "g.145803050G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.146085263G>A" "" "pathogenic (recessive)" "" "0000688964" "0" "30" "3" "145794602" "145794602" "subst" "0.000521706" "01943" "PLOD2_000044" "g.145794602G>A" "" "" "" "PLOD2(NM_182943.2):c.1644C>T (p.N548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719236" "0" "30" "3" "145803060" "145803060" "subst" "6.51301E-5" "01804" "PLOD2_000045" "g.145803060C>T" "" "" "" "PLOD2(NM_000935.2):c.1128G>A (p.(Met376Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719237" "0" "50" "3" "145828192" "145828192" "subst" "0.000655201" "01804" "PLOD2_000036" "g.145828192T>C" "" "" "" "PLOD2(NM_000935.2):c.382A>G (p.(Lys128Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719238" "0" "50" "3" "145839032" "145839032" "subst" "2.03492E-5" "01943" "PLOD2_000046" "g.145839032G>A" "" "" "" "PLOD2(NM_182943.2):c.205C>T (p.L69F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000784675" "3" "99" "3" "145789203" "145789203" "subst" "1.22286E-5" "03894" "PLOD2_000001" "g.145789203C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}, {PMID:Li 2020:33093841}" "" "" "" "Germline" "" "" "0" "" "" "g.146071416C>T" "" "pathogenic (recessive)" "" "0000850164" "0" "30" "3" "145790472" "145790472" "subst" "1.64879E-5" "02329" "PLOD2_000048" "g.145790472G>A" "" "" "" "PLOD2(NM_182943.3):c.1744-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858836" "0" "50" "3" "145788663" "145788663" "subst" "0" "01943" "PLOD2_000047" "g.145788663A>T" "" "" "" "PLOD2(NM_182943.2):c.2122-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858837" "0" "30" "3" "145809661" "145809661" "subst" "0.00148091" "01804" "PLOD2_000049" "g.145809661C>T" "" "" "" "PLOD2(NM_000935.2):c.805G>A (p.(Val269Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885597" "0" "50" "3" "145796985" "145796985" "subst" "3.25672E-5" "01804" "PLOD2_000050" "g.145796985C>T" "" "" "" "PLOD2(NM_000935.2):c.1418G>A (p.(Arg473Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911843" "0" "30" "3" "145838990" "145838990" "subst" "2.03502E-5" "01804" "PLOD2_000051" "g.145838990T>C" "" "" "" "PLOD2(NM_000935.2):c.247A>G (p.(Ser83Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922634" "0" "70" "3" "145796985" "145796985" "subst" "3.25672E-5" "00006" "PLOD2_000050" "g.145796985C>T" "" "{PMID:Furey 2018:29983323}" "" "" "candidate disease gene" "De novo" "" "" "0" "" "" "g.146079198C>T" "" "VUS (!)" "" "0000922635" "0" "70" "3" "145789068" "145789068" "subst" "2.85272E-5" "00006" "PLOD2_000052" "g.145789068G>A" "" "{PMID:Furey 2018:29983323}" "" "Thr643Met" "candidate disease gene" "De novo" "" "" "0" "" "" "g.146071281G>A" "" "VUS (!)" "" "0000923852" "0" "30" "3" "145824098" "145824098" "subst" "0" "02329" "PLOD2_000053" "g.145824098A>G" "" "" "" "PLOD2(NM_182943.3):c.615+221T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928726" "0" "30" "3" "145804593" "145804593" "subst" "0.000229939" "01804" "PLOD2_000054" "g.145804593C>T" "" "" "" "PLOD2(NM_000935.2):c.1108G>A (p.(Glu370Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948051" "0" "30" "3" "145790205" "145790205" "subst" "0" "02329" "PLOD2_000055" "g.145790205G>A" "" "" "" "PLOD2(NM_182943.3):c.1848+143C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962514" "0" "30" "3" "145806784" "145806784" "subst" "0" "02329" "PLOD2_000056" "g.145806784A>G" "" "" "" "PLOD2(NM_182943.3):c.880-286T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962515" "0" "30" "3" "145841825" "145841825" "subst" "0" "02329" "PLOD2_000057" "g.145841825G>A" "" "" "" "PLOD2(NM_182943.3):c.201+100C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975622" "0" "50" "3" "145824347" "145824347" "subst" "0.000861726" "01804" "PLOD2_000058" "g.145824347G>A" "" "" "" "PLOD2(NM_182943.3):c.587C>T (p.(Thr196Ile), p.T196I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975623" "0" "30" "3" "145824347" "145824347" "subst" "0.000861726" "02329" "PLOD2_000058" "g.145824347G>A" "" "" "" "PLOD2(NM_182943.3):c.587C>T (p.(Thr196Ile), p.T196I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993356" "0" "30" "3" "145788597" "145788597" "subst" "0" "01804" "PLOD2_000059" "g.145788597G>C" "" "" "" "PLOD2(NM_182943.2):c.2184C>G (p.(Ser728Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024732" "0" "30" "3" "145806365" "145806365" "del" "0" "02329" "PLOD2_000060" "g.145806365del" "" "" "" "PLOD2(NM_182943.3):c.1005+10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033743" "0" "50" "3" "145788508" "145788508" "subst" "0" "01804" "PLOD2_000061" "g.145788508G>C" "" "" "" "PLOD2(NM_182943.3):c.2273C>G (p.(Pro758Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033744" "0" "50" "3" "145789061" "145789061" "subst" "0" "01804" "PLOD2_000062" "g.145789061T>G" "" "" "" "PLOD2(NM_182943.3):c.1995+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033745" "0" "50" "3" "145789117" "145789117" "subst" "1.22266E-5" "01804" "PLOD2_000063" "g.145789117G>A" "" "" "" "PLOD2(NM_182943.3):c.1942C>T (p.(Arg648Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033746" "0" "30" "3" "145794607" "145794607" "subst" "0.000488269" "01804" "PLOD2_000064" "g.145794607A>G" "" "" "" "PLOD2(NM_182943.3):c.1639T>C (p.(Tyr547His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033747" "0" "50" "3" "145795689" "145795689" "subst" "4.0707E-6" "01804" "PLOD2_000065" "g.145795689G>A" "" "" "" "PLOD2(NM_182943.3):c.1523C>T (p.(Ser508Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033748" "0" "30" "3" "145804705" "145804706" "del" "0" "01804" "PLOD2_000066" "g.145804705_145804706del" "" "" "" "PLOD2(NM_182943.3):c.1006-9_1006-8del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033749" "0" "50" "3" "145809658" "145809658" "subst" "8.13656E-6" "01804" "PLOD2_000067" "g.145809658G>A" "" "" "" "PLOD2(NM_182943.3):c.808C>T (p.(Pro270Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044579" "0" "70" "3" "145828163" "145828182" "del" "4.06726E-6" "03779" "PLOD2_000069" "g.145828163_145828182del" "" "" "" "" "" "Unknown" "" "rs753848468" "0" "" "" "" "" "likely pathogenic" "" "0001044580" "0" "70" "3" "145824314" "145824314" "subst" "0" "03779" "PLOD2_000068" "g.145824314C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001051539" "0" "30" "3" "145806460" "145806460" "subst" "0" "01804" "PLOD2_000070" "g.145806460T>C" "" "" "" "PLOD2(NM_182943.3):c.918A>G (p.(Gln306=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051540" "0" "50" "3" "145806486" "145806486" "subst" "0" "01804" "PLOD2_000071" "g.145806486C>T" "" "" "" "PLOD2(NM_182943.3):c.892G>A (p.(Val298Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051541" "0" "50" "3" "145828110" "145828110" "subst" "4.06527E-6" "01804" "PLOD2_000072" "g.145828110G>T" "" "" "" "PLOD2(NM_182943.3):c.464C>A (p.(Pro155His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051542" "0" "50" "3" "145838902" "145838902" "subst" "7.73307E-5" "01804" "PLOD2_000073" "g.145838902T>C" "" "" "" "PLOD2(NM_182943.3):c.335A>G (p.(Glu112Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060882" "0" "50" "3" "145799624" "145799624" "subst" "0.000109938" "00006" "PLOD2_000074" "g.145799624C>T" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PM1, PM2, BP4; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.146081837C>T" "" "VUS" "ACMG" ## 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 PLOD2 ## Count = 91 "{{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}}" "0000250087" "00025505" "10" "2229" "0" "2229" "0" "c.2229T>C" "r.(?)" "p.(Pro743=)" "" "0000250418" "00025505" "30" "1678" "-12" "1678" "-12" "c.1678-12T>C" "r.(=)" "p.(=)" "" "0000250547" "00025505" "50" "1076" "0" "1076" "0" "c.1076T>G" "r.(?)" "p.(Ile359Arg)" "" "0000254319" "00025505" "30" "306" "0" "306" "0" "c.306T>A" "r.(?)" "p.(Asp102Glu)" "" "0000297132" "00025505" "10" "1128" "-78" "1128" "-78" "c.1128-78A>G" "r.(=)" "p.(=)" "" "0000297133" "00025505" "10" "1128" "-82" "1128" "-82" "c.1128-82A>T" "r.(=)" "p.(=)" "" "0000297134" "00025505" "10" "1500" "12" "1500" "12" "c.1500+12A>G" "r.(=)" "p.(=)" "" "0000297135" "00025505" "10" "338" "4" "338" "4" "c.338+4G>A" "r.spl?" "p.?" "" "0000298916" "00025505" "10" "1500" "12" "1500" "12" "c.1500+12A>G" "r.(=)" "p.(=)" "" "0000298917" "00025505" "30" "1564" "-19" "1564" "-19" "c.1564-19G>A" "r.(=)" "p.(=)" "" "0000298918" "00025505" "10" "338" "4" "338" "4" "c.338+4G>A" "r.spl?" "p.?" "" "0000518222" "00025505" "50" "1772" "0" "1772" "0" "c.1772T>A" "r.(?)" "p.(Ile591Lys)" "" "0000518223" "00025505" "10" "652" "0" "652" "0" "c.652A>G" "r.(?)" "p.(Ile218Val)" "" "0000518225" "00025505" "30" "306" "0" "306" "0" "c.306T>A" "r.(?)" "p.(Asp102Glu)" "" "0000608372" "00025505" "30" "2121" "14" "2121" "14" "c.2121+14T>C" "r.(=)" "p.(=)" "" "0000608373" "00025505" "30" "652" "0" "652" "0" "c.652A>G" "r.(?)" "p.(Ile218Val)" "" "0000608374" "00025505" "30" "475" "0" "475" "0" "c.475A>T" "r.(?)" "p.(Ile159Phe)" "" "0000651097" "00025505" "50" "382" "0" "382" "0" "c.382A>G" "r.(?)" "p.(Lys128Glu)" "" "0000664362" "00025505" "50" "803" "0" "803" "0" "c.803A>C" "r.(?)" "p.(Tyr268Ser)" "" "0000664363" "00025505" "70" "497" "0" "497" "0" "c.497C>G" "r.(?)" "p.(Ser166*)" "" "0000664371" "00025505" "90" "1865" "0" "1865" "0" "c.1865G>T" "r.(?)" "p.(Gly622Val)" "" "0000664372" "00025505" "90" "1886" "0" "1886" "0" "c.1886C>T" "r.(?)" "p.(Thr629Ile)" "" "0000664373" "00025505" "90" "1856" "0" "1856" "0" "c.1856G>A" "r.(?)" "p.(Arg619His)" "" "0000664376" "00025505" "90" "1856" "0" "1856" "0" "c.1856G>A" "r.(?)" "p.(Arg619His)" "" "0000664377" "00025505" "90" "1856" "0" "1856" "0" "c.1856G>A" "r.(?)" "p.(Arg619His)" "" "0000664378" "00025505" "90" "1559" "0" "1559" "0" "c.1559dup" "r.(?)" "p.(Val523Cysfs*7)" "" "0000664379" "00025505" "90" "1559" "0" "1559" "0" "c.1559dup" "r.(?)" "p.(Val523Cysfs*7)" "" "0000664380" "00025505" "90" "1358" "5" "1358" "5" "c.1358+5G>A" "r.spl" "p.?" "" "0000664381" "00025505" "90" "1864" "0" "1864" "0" "c.1864G>T" "r.(?)" "p.(Gly622Cys)" "" "0000664382" "00025505" "90" "1864" "0" "1864" "0" "c.1864G>T" "r.(?)" "p.(Gly622Cys)" "" "0000664383" "00025505" "90" "2122" "-2" "2122" "-2" "c.2122-2A>G" "r.spl" "p.?" "" "0000664384" "00025505" "90" "2122" "-2" "2122" "-2" "c.2122-2A>G" "r.spl" "p.?" "" "0000664386" "00025505" "90" "1624" "0" "1624" "0" "c.1624del" "r.(?)" "p.(Tyr542Thrfs*25)" "" "0000664388" "00025505" "90" "1880" "0" "1880" "0" "c.1880T>C" "r.(?)" "p.(Val627Ala)" "" "0000664391" "00025505" "90" "1358" "5" "1358" "5" "c.1358+5G>A" "r.spl" "p.?" "" "0000664395" "00025505" "90" "1828" "0" "1828" "0" "c.1828T>C" "r.(?)" "p.(Trp610Arg)" "" "0000664397" "00025505" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Arg380Cys)" "" "0000664398" "00025505" "90" "1153" "0" "1153" "0" "c.1153T>C" "r.(?)" "p.(Cys385Arg)" "" "0000664399" "00025505" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Arg380Cys)" "" "0000664400" "00025505" "90" "503" "-2" "503" "-2" "c.503-2A>G" "r.spl" "p.?" "" "0000664401" "00025505" "90" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Gly661Asp)" "" "0000664402" "00025505" "90" "2038" "0" "2038" "0" "c.2038C>T" "r.(?)" "p.(Arg680*)" "" "0000664403" "00025505" "90" "1754" "0" "1754" "0" "c.1754A>T" "r.(?)" "p.(Asp585Val)" "" "0000664404" "00025505" "90" "1754" "0" "1754" "0" "c.1754A>T" "r.(?)" "p.(Asp585Val)" "" "0000664405" "00025505" "90" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Trp561*)" "" "0000664406" "00025505" "90" "2060" "0" "2060" "0" "c.2060A>G" "r.(?)" "p.(His687Arg)" "" "0000664407" "00025505" "90" "2060" "0" "2060" "0" "c.2060A>G" "r.(?)" "p.(His687Arg)" "" "0000664408" "00025505" "90" "1764" "0" "1764" "0" "c.1764G>T" "r.(?)" "p.(Trp588Cys)" "" "0000664409" "00025505" "90" "497" "0" "497" "0" "c.497C>G" "r.(?)" "p.(Ser166*)" "" "0000664410" "00025505" "90" "497" "0" "497" "0" "c.497C>G" "r.(?)" "p.(Ser166*)" "" "0000664412" "00025505" "70" "797" "0" "797" "0" "c.797G>T" "r.(?)" "p.(Gly266Val)" "" "0000664413" "00025505" "70" "1280" "0" "1280" "0" "c.1280A>G" "r.(?)" "p.(Asn427Ser)" "" "0000664414" "00025505" "70" "517" "0" "517" "0" "c.517G>C" "r.(?)" "p.(Ala173Pro)" "" "0000664417" "00025505" "70" "797" "0" "797" "0" "c.797G>T" "r.(?)" "p.(Gly266Val)" "" "0000664449" "00025505" "90" "503" "-2" "503" "-2" "c.503-2A>G" "r.spl" "p.?" "4i" "0000664458" "00025505" "90" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Arg380Cys)" "11" "0000688964" "00025505" "30" "1644" "0" "1644" "0" "c.1644C>T" "r.(?)" "p.(Asn548=)" "" "0000719236" "00025505" "30" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(Met376Ile)" "" "0000719237" "00025505" "50" "382" "0" "382" "0" "c.382A>G" "r.(?)" "p.(Lys128Glu)" "" "0000719238" "00025505" "50" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Leu69Phe)" "" "0000784675" "00025505" "99" "1856" "0" "1856" "0" "c.1856G>A" "r.(?)" "p.(Arg619His)" "17" "0000850164" "00025505" "30" "1744" "-20" "1744" "-20" "c.1744-20C>T" "r.(=)" "p.(=)" "" "0000858836" "00025505" "50" "2122" "-4" "2122" "-4" "c.2122-4T>A" "r.spl?" "p.?" "" "0000858837" "00025505" "30" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Val269Ile)" "" "0000885597" "00025505" "50" "1418" "0" "1418" "0" "c.1418G>A" "r.(?)" "p.(Arg473Gln)" "" "0000911843" "00025505" "30" "247" "0" "247" "0" "c.247A>G" "r.(?)" "p.(Ser83Gly)" "" "0000922634" "00025505" "70" "1418" "0" "1418" "0" "c.1418G>A" "r.(?)" "p.(Arg473Gln)" "" "0000922635" "00025505" "70" "1991" "0" "1991" "0" "c.1991C>T" "r.(?)" "p.(Thr664Met)" "" "0000923852" "00025505" "30" "615" "221" "615" "221" "c.615+221T>C" "r.(=)" "p.(=)" "" "0000928726" "00025505" "30" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000948051" "00025505" "30" "1848" "143" "1848" "143" "c.1848+143C>T" "r.(=)" "p.(=)" "" "0000962514" "00025505" "30" "880" "-286" "880" "-286" "c.880-286T>C" "r.(=)" "p.(=)" "" "0000962515" "00025505" "30" "201" "100" "201" "100" "c.201+100C>T" "r.(=)" "p.(=)" "" "0000975622" "00025505" "50" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Thr196Ile)" "" "0000975623" "00025505" "30" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Thr196Ile)" "" "0000993356" "00025505" "30" "2184" "0" "2184" "0" "c.2184C>G" "r.(?)" "p.(Ser728Arg)" "" "0001024732" "00025505" "30" "1005" "10" "1005" "10" "c.1005+10del" "r.(=)" "p.(=)" "" "0001033743" "00025505" "50" "2273" "0" "2273" "0" "c.2273C>G" "r.(?)" "p.(Pro758Arg)" "" "0001033744" "00025505" "50" "1995" "3" "1995" "3" "c.1995+3A>C" "r.spl?" "p.?" "" "0001033745" "00025505" "50" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Arg648Trp)" "" "0001033746" "00025505" "30" "1639" "0" "1639" "0" "c.1639T>C" "r.(?)" "p.(Tyr547His)" "" "0001033747" "00025505" "50" "1523" "0" "1523" "0" "c.1523C>T" "r.(?)" "p.(Ser508Phe)" "" "0001033748" "00025505" "30" "1006" "-9" "1006" "-8" "c.1006-9_1006-8del" "r.(=)" "p.(=)" "" "0001033749" "00025505" "50" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Pro270Ser)" "" "0001044579" "00025505" "70" "392" "0" "411" "0" "c.392_411del" "r.(?)" "p.(Lys131IlefsTer11)" "" "0001044580" "00025505" "70" "615" "5" "615" "5" "c.615+5G>T" "r.(?)" "p.(?)" "" "0001051539" "00025505" "30" "918" "0" "918" "0" "c.918A>G" "r.(?)" "p.(=)" "" "0001051540" "00025505" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Val298Ile)" "" "0001051541" "00025505" "50" "464" "0" "464" "0" "c.464C>A" "r.(?)" "p.(Pro155His)" "" "0001051542" "00025505" "50" "335" "0" "335" "0" "c.335A>G" "r.(?)" "p.(Glu112Gly)" "" "0001060882" "00025505" "50" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Arg420His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{variantid}}" "0000294408" "0000651097" "0000301430" "0000664362" "0000301430" "0000664363" "0000301435" "0000664371" "0000301436" "0000664372" "0000301437" "0000664373" "0000301440" "0000664376" "0000301441" "0000664377" "0000301442" "0000664378" "0000301443" "0000664379" "0000301444" "0000664380" "0000301445" "0000664381" "0000301445" "0000664383" "0000301446" "0000664382" "0000301446" "0000664384" "0000301448" "0000664386" "0000301448" "0000664388" "0000301451" "0000664391" "0000301452" "0000664395" "0000301454" "0000664397" "0000301454" "0000664400" "0000301455" "0000664398" "0000301455" "0000664401" "0000301456" "0000664399" "0000301456" "0000664402" "0000301457" "0000664403" "0000301457" "0000664410" "0000301458" "0000664404" "0000301458" "0000664409" "0000301459" "0000664405" "0000301460" "0000664406" "0000301461" "0000664407" "0000301462" "0000664408" "0000301464" "0000664412" "0000301464" "0000664413" "0000301465" "0000664414" "0000301467" "0000664417" "0000301499" "0000664449" "0000301499" "0000664458" "0000373994" "0000784675" "0000436274" "0000922634" "0000436275" "0000922635" "0000472375" "0001060882"