### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SEC24D) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "SEC24D" "SEC24 homolog D, COPII coat complex component" "4" "q26" "unknown" "NG_042032.1" "UD_132610630394" "" "https://www.LOVD.nl/SEC24D" "Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases \r\nOsteogenesis Imperfecta Federation Europe (OIFE) " "1" "10706" "9871" "607186" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.\r\nThis database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/SEC24D_codingDNA.html" "1" "" "
Osteogenesis Imperfecta Variant Database\r\n
\r\n\r\n
" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2022-04-05 13:09:31" "00006" "2026-01-12 09:58:22" ## 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}}" "00018613" "SEC24D" "SEC24 family, member D (S. cerevisiae)" "001" "NM_014822.2" "" "NP_055637.2" "" "" "" "-272" "3791" "3099" "119757326" "119643978" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01481" "OI1" "osteogenesis imperfecta, type I (OI1)" "AD" "166200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:56:46" "03570" "BCS2" "cornea, brittle, syndrome type 2 (BCS-2)" "AR" "614170" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "04654" "CLCRP2" "Cole-Carpenter syndrome, type 2 (CLCRP2)" "AR" "616294" "" "" "" "00000" "2015-09-23 10:25:23" "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" "05398" "CLCRP" "Cole-Carpenter syndrome (CLCRP)" "" "" "" "" "" "00006" "2018-02-23 14:44:55" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SEC24D" "04654" "SEC24D" "05398" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00051532" "" "" "" "4" "" "01404" "{PMID:Micheal 2016:27032025}, {DOI:Micheal 2016:10.1097/ICO.0000000000000824}" "4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPatIV5" "00225690" "" "" "" "3" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "25558065-Fam12DG2051" "00361554" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG2051" "00372775" "" "" "" "1" "" "00085" "{PMID:Garbes 2015:25683121}" "" "" "" "" "" "0" "" "" "" "" "00372776" "" "" "" "1" "" "00085" "{PMID:Zhang 2017:27942778}" "The proband also had dentinogenesis imperfecta." "" "" "China" "" "0" "" "" "" "" "00372777" "" "" "" "1" "" "00085" "{PMID:Zhang 2017:27942778}" "The proband also had dentinogenesis imperfecta." "" "" "China" "" "0" "" "" "" "" "00372778" "" "" "" "1" "" "00085" "{PMID:Garbes 2015:25683121}" "There were two affected fetuses in this family and a healthy sister heterozygous for the c.2933A>C variant." "" "" "" "" "0" "" "" "" "" "00472135" "" "" "" "3" "" "00006" "{PMID:Essawi 2026:41495099}" "4-generation family, 3 affected (brother/sister/brother), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Palestine" "" "0" "" "" "" "FamPatIV1/3/8" "00472136" "" "" "" "1" "" "00006" "{PMID:Moosa 2016:26467156}," "2-generation family, 1 affected, unaffected heterozygous carrier parents/" "" "" "Germany" "" "0" "" "" "China" "patient" "00472137" "" "" "" "1" "" "00006" "{PMID:Takeyari 2018:30462379}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "Japan" "" "0" "" "" "" "patient" "00472138" "" "" "" "1" "" "00006" "{PMID:Miao 2022:36186652}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00472174" "" "" "" "1" "" "03894" "{PMID:Li 2020:33093841}" "patient, family history" "" "no" "China" "" "0" "" "" "" "PUMC-266" "00472175" "" "" "" "1" "" "03894" "{PMID:Li 2020:33093841}" "patient, no family history" "" "no" "China" "" "0" "" "" "" "PUMC-204" "00472176" "" "" "" "1" "" "03894" "{PMID:Li 2020:33093841}" "patient, no family history" "" "no" "China" "" "0" "" "" "" "PUMC-514" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00051532" "03570" "00225690" "00198" "00361554" "00139" "00372775" "05398" "00372776" "05296" "00372777" "05296" "00372778" "05398" "00472135" "05296" "00472136" "05296" "00472137" "05296" "00472138" "04184" "00472138" "05296" "00472174" "01481" "00472175" "01481" "00472176" "01481" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01481, 03570, 04184, 04654, 05296, 05398 ## Count = 14 "{{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}}" "0000038135" "03570" "00051532" "01404" "Familial, autosomal recessive" "" "see paper, brittel cornea syndrome, ..." "" "" "" "" "" "" "" "" "" "" "" "0000170796" "00198" "00225690" "00006" "Familial, autosomal recessive" "" "see paper; …, intellectual disability and epilepsy" "" "" "" "" "" "" "" "" "" "neurogenetic disorder" "" "0000256959" "00139" "00361554" "00006" "Familial, autosomal recessive" "7y" "not syndromic; intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000268052" "05398" "00372775" "00085" "Familial, autosomal recessive" "" "see paper; ..., severely disturbed ossification skull, multiple fractures, short stature, craniofacial malformations, macrocephaly, midface hypoplasia, micrognathia, frontal bossing, down-slanting palpebral fissures" "" "" "" "" "" "" "" "" "CLCRP2" "Cole-Carpenter Syndrome" "" "0000268053" "05296" "00372776" "00085" "Familial, autosomal recessive" "" "see paper; ..., bone fragility, osteopenia, dentinogenesis imperfecta" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000268054" "05296" "00372777" "00085" "Familial, autosomal recessive" "" "see paper; ..., short stature, bone fragility, facial dysmorphism, broad ossification defect frontoapical area, widened sagittal suture, wormian bones, dentinogenesis imperfecta" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000268055" "05398" "00372778" "00085" "Familial, autosomal recessive" "" "see paper; ..., severely disturbed ossification of the skull and multiple fractures" "" "" "" "" "" "" "" "" "CLCRP2" "Cole-Carpenter Syndrome" "" "0000356943" "05296" "00472135" "00006" "Familial, autosomal recessive" "" "see paper; ..., congenital osteogenesis imperfecta (prenatal fractures); adult >50 fractures, osteopenia or osteoporosis, short stature, deformities upper/lower extremities, pectus deformity, wheelchair-bound, macrocephaly, frontal bossing, triangular face, dentinogenesis imperfecta, high-pitched voice" "" "" "" "" "" "" "" "" "CLCRP2" "osteogenesis imperfecta" "" "0000356944" "05296" "00472136" "00006" "Familial, autosomal recessive" "" "see paper; ..., 18wg-short long bones; neonatal blue-gray sclerae, osteopenia, Wormian bones, deformities long bones, no dysmorphic craniofacial features; 13m-coronal sutures patent, anterior fontanelle enlarged" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000356945" "05296" "00472137" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature, craniofacial abnormalities, prominent eye, micrognathia, short neck, scoliosis, chest deformity) ocularproptosis, marked frontal bossing, midface hypoplasia, micrognathia, low bone mineral density" "" "" "" "" "" "" "" "" "CLCRP2" "Cole-Carpenter syndrome" "" "0000356946" "05296" "00472138" "00006" "Complex" "" "see paper; ..., craniofacial dysmorphism, recurrent fractures, no open anterior fontanelle, Wormian bones, no dentinogenesis imperfecta , hearing loss, short neck, short stature, scoliosis, chest deformity, bone fragility , cubitus valgus/genu valgum. long bone deformity, no lentigines, no mental retardation" "" "" "" "" "" "" "" "" "CLCRP2;NS" "osteogenesis imperfecta, short stature" "" "0000356983" "01481" "00472174" "03894" "Familial, autosomal recessive" "" "0y-first fracture,;" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000356984" "01481" "00472175" "03894" "Familial, autosomal recessive" "" "0.33y-first fracture, 6 fractures; height Z 0.31; no scoliosis; blue sclerae; dentinogenesis imperfecta; no hearing loss; able to walk" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000356985" "01481" "00472176" "03894" "Familial, autosomal recessive" "" "3y-first fracture, 37 fractures; height Z -7.01; scoliosis; blue sclerae; dentinogenesis imperfecta; no hearing loss; able to walk; no ptosis" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000051477" "00051532" "1" "01404" "01404" "2015-10-01 13:36:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000226757" "00225690" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362782" "00361554" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000374008" "00372775" "1" "00085" "00085" "2015-04-16 15:14:29" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374009" "00372776" "1" "00085" "00085" "2017-02-07 09:08:54" "00085" "2018-08-06 14:02:49" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374010" "00372777" "1" "00085" "00085" "2017-02-07 09:01:38" "00085" "2018-08-06 14:03:19" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374011" "00372778" "1" "00085" "00085" "2015-04-16 15:20:10" "00085" "2015-04-16 15:20:38" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000473805" "00472135" "1" "00006" "00006" "2026-01-10 09:45:23" "" "" "arraySNP;RT-PCR;SEQ" "DNA;RNA" "" "" "0000473806" "00472136" "1" "00006" "00006" "2026-01-10 10:42:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473807" "00472137" "1" "00006" "00006" "2026-01-10 10:57:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473808" "00472138" "1" "00006" "00006" "2026-01-10 11:16:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473844" "00472174" "1" "03894" "00006" "2026-01-12 09:58:13" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000473845" "00472175" "1" "03894" "00006" "2026-01-12 09:58:13" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000473846" "00472176" "1" "03894" "00006" "2026-01-12 09:58:13" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000226757" "SEC24D" "0000362782" "SEC24D" "0000374008" "SEC24D" "0000374009" "SEC24D" "0000374010" "SEC24D" "0000374011" "SEC24D" "0000473805" "SEC24D" ## 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 = 81 "{{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}}" "0000234452" "3" "90" "4" "119754841" "119754841" "subst" "3.28588E-5" "00006" "SEC24D_000011" "g.119754841T>G" "" "{PMID:Micheal 2016:27032025}, {DOI:Micheal 2016:10.1097/ICO.0000000000000824}" "" "11T>C (Gln4Pro)" "influence of variant on phenotype unknown" "Germline" "yes" "" "0" "" "" "g.118833686T>G" "" "pathogenic" "" "0000307864" "0" "30" "4" "119689443" "119689443" "subst" "0.0001792" "01943" "SEC24D_000014" "g.119689443G>A" "" "" "" "SEC24D(NM_014822.3):c.1065C>T (p.H355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118768288G>A" "" "likely benign" "" "0000307865" "0" "30" "4" "119738511" "119738511" "subst" "1.21962E-5" "01943" "SEC24D_000012" "g.119738511G>C" "" "" "" "SEC24D(NM_014822.3):c.305C>G (p.P102R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118817356G>C" "" "likely benign" "" "0000459796" "3" "70" "4" "119736287" "119736287" "subst" "0" "00006" "SEC24D_000015" "g.119736287C>G" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.118815132C>G" "" "likely pathogenic (recessive)" "" "0000521361" "0" "30" "4" "119644825" "119644825" "dup" "0" "01804" "SEC24D_000016" "g.119644825dup" "" "" "" "SEC24D(NM_014822.2):c.2959-6dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118723670dup" "" "likely benign" "" "0000521362" "0" "30" "4" "119652555" "119652555" "subst" "0.00204156" "01804" "SEC24D_000017" "g.119652555G>T" "" "" "" "SEC24D(NM_014822.2):c.2784C>A (p.(Phe928Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118731400G>T" "" "likely benign" "" "0000521363" "0" "30" "4" "119654028" "119654028" "subst" "0.000984108" "01804" "SEC24D_000018" "g.119654028T>C" "" "" "" "SEC24D(NM_014822.2):c.2536A>G (p.(Met846Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118732873T>C" "" "likely benign" "" "0000521364" "0" "30" "4" "119654036" "119654036" "subst" "0.00129049" "01804" "SEC24D_000019" "g.119654036G>A" "" "" "" "SEC24D(NM_001318066.2):c.2531C>T (p.P844L), SEC24D(NM_014822.2):c.2528C>T (p.(Pro843Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118732881G>A" "" "likely benign" "" "0000521365" "0" "30" "4" "119666217" "119666217" "subst" "0" "01804" "SEC24D_000020" "g.119666217T>A" "" "" "" "SEC24D(NM_014822.2):c.1708-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118745062T>A" "" "likely benign" "" "0000521367" "0" "30" "4" "119666232" "119666232" "dup" "0" "01804" "SEC24D_000022" "g.119666232dup" "" "" "" "SEC24D(NM_014822.2):c.1708-3dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118745077dup" "" "likely benign" "" "0000521368" "0" "30" "4" "119673889" "119673889" "subst" "0.00919113" "01804" "SEC24D_000023" "g.119673889G>A" "" "" "" "SEC24D(NM_001318066.1):c.1579C>T (p.(Leu527Phe)), SEC24D(NM_001318066.2):c.1579C>T (p.L527F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118752734G>A" "" "likely benign" "" "0000521370" "0" "30" "4" "119736206" "119736206" "subst" "0.000203074" "01804" "SEC24D_000025" "g.119736206C>A" "" "" "" "SEC24D(NM_014822.2):c.778G>T (p.(Asp260Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118815051C>A" "" "likely benign" "" "0000521371" "0" "30" "4" "119736626" "119736626" "subst" "0.00983229" "01804" "SEC24D_000026" "g.119736626G>C" "" "" "" "SEC24D(NM_001318066.1):c.653C>G (p.(Ala218Gly)), SEC24D(NM_001318066.2):c.653C>G (p.A218G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118815471G>C" "" "likely benign" "" "0000521372" "0" "30" "4" "119736701" "119736701" "subst" "0.00229837" "01804" "SEC24D_000027" "g.119736701G>A" "" "" "" "SEC24D(NM_001318066.1):c.578C>T (p.(Pro193Leu)), SEC24D(NM_001318066.2):c.578C>T (p.P193L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118815546G>A" "" "likely benign" "" "0000521373" "0" "30" "4" "119745768" "119745768" "subst" "0.00451013" "01804" "SEC24D_000028" "g.119745768A>G" "" "" "" "SEC24D(NM_001318066.1):c.248+7T>C (p.(=)), SEC24D(NM_001318066.2):c.248+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118824613A>G" "" "likely benign" "" "0000521374" "0" "30" "4" "119745842" "119745842" "subst" "0.00176034" "01804" "SEC24D_000029" "g.119745842G>T" "" "" "" "SEC24D(NM_001318066.1):c.181C>A (p.P61T, p.(Pro61Thr)), SEC24D(NM_001318066.2):c.181C>A (p.P61T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118824687G>T" "" "likely benign" "" "0000521375" "0" "30" "4" "119745884" "119745884" "subst" "0.00138682" "01804" "SEC24D_000030" "g.119745884G>A" "" "" "" "SEC24D(NM_001318066.2):c.139C>T (p.P47S), SEC24D(NM_014822.2):c.139C>T (p.(Pro47Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118824729G>A" "" "likely benign" "" "0000521376" "0" "30" "4" "119745898" "119745898" "subst" "0.003459" "01804" "SEC24D_000031" "g.119745898A>G" "" "" "" "SEC24D(NM_014822.2):c.125T>C (p.(Met42Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118824743A>G" "" "likely benign" "" "0000621342" "0" "10" "4" "119736598" "119736598" "subst" "0.873056" "02329" "SEC24D_000032" "g.119736598C>T" "" "" "" "SEC24D(NM_014822.4):c.673+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118815443C>T" "" "benign" "" "0000621343" "0" "10" "4" "119736796" "119736796" "subst" "0.471811" "02329" "SEC24D_000033" "g.119736796A>C" "" "" "" "SEC24D(NM_014822.4):c.483T>G (p.P161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118815641A>C" "" "benign" "" "0000689216" "0" "10" "4" "119674061" "119674061" "del" "0" "01943" "SEC24D_000034" "g.119674061del" "" "" "" "SEC24D(NM_001318066.1):c.1425-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689217" "0" "30" "4" "119738575" "119738575" "subst" "0.000154537" "01804" "SEC24D_000035" "g.119738575A>G" "" "" "" "SEC24D(NM_014822.2):c.249-8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719716" "0" "50" "4" "119652605" "119652605" "subst" "0.000370138" "01804" "SEC24D_000036" "g.119652605G>A" "" "" "" "SEC24D(NM_001318066.1):c.2737C>T (p.R913C), SEC24D(NM_014822.2):c.2734C>T (p.(Arg912Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719717" "0" "10" "4" "119674061" "119674061" "dup" "0" "02329" "SEC24D_000037" "g.119674061dup" "" "" "" "SEC24D(NM_014822.4):c.1422-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719718" "0" "30" "4" "119745842" "119745842" "subst" "0.00176034" "01943" "SEC24D_000029" "g.119745842G>T" "" "" "" "SEC24D(NM_001318066.1):c.181C>A (p.P61T, p.(Pro61Thr)), SEC24D(NM_001318066.2):c.181C>A (p.P61T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719719" "0" "30" "4" "119754766" "119754766" "subst" "0.00201875" "01804" "SEC24D_000038" "g.119754766T>C" "" "" "" "SEC24D(NM_001318066.1):c.86A>G (p.(Tyr29Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763156" "3" "70" "4" "119736287" "119736287" "subst" "0" "00006" "SEC24D_000015" "g.119736287C>G" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PM1, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.118815132C>G" "" "likely pathogenic" "ACMG" "0000784691" "11" "99" "4" "119736666" "119736666" "subst" "0" "00085" "SEC24D_000001" "g.119736666G>A" "" "{PMID:Garbes 2015:25683121}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784692" "21" "99" "4" "119727036" "119727036" "subst" "0" "00085" "SEC24D_000007" "g.119727036G>A" "" "{PMID:Zhang 2017:27942778}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784693" "11" "99" "4" "119718941" "119718941" "subst" "5.29976E-5" "00085" "SEC24D_000006" "g.119718941C>T" "" "{PMID:Zhang 2017:27942778}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784694" "11" "99" "4" "119652616" "119652616" "subst" "4.06716E-6" "00085" "SEC24D_000004" "g.119652616C>T" "" "{PMID:Zhang 2017:27942778}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784695" "21" "99" "4" "119652497" "119652497" "subst" "0" "00085" "SEC24D_000005" "g.119652497G>A" "" "{PMID:Zhang 2017:27942778}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784696" "21" "99" "4" "119649741" "119649741" "subst" "8.25798E-6" "00085" "SEC24D_000003" "g.119649741T>G" "" "{PMID:Garbes 2015:25683121}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784697" "21" "99" "4" "119644725" "119644725" "subst" "4.06716E-6" "00085" "SEC24D_000002" "g.119644725G>A" "" "{PMID:Garbes 2015:25683121}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784698" "11" "99" "4" "119644725" "119644725" "subst" "4.06716E-6" "00085" "SEC24D_000002" "g.119644725G>A" "" "{PMID:Garbes 2015:25683121}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000801475" "0" "30" "4" "119644791" "119644791" "subst" "8.25682E-6" "01943" "SEC24D_000039" "g.119644791C>T" "" "" "" "SEC24D(NM_001318066.1):c.2981G>A (p.R994Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801476" "0" "50" "4" "119652584" "119652584" "subst" "0" "01804" "SEC24D_000040" "g.119652584A>G" "" "" "" "SEC24D(NM_014822.2):c.2755T>C (p.(Phe919Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801477" "0" "50" "4" "119652605" "119652605" "subst" "0.000370138" "01943" "SEC24D_000036" "g.119652605G>A" "" "" "" "SEC24D(NM_001318066.1):c.2737C>T (p.R913C), SEC24D(NM_014822.2):c.2734C>T (p.(Arg912Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801478" "0" "30" "4" "119661914" "119661914" "subst" "0.000134251" "01943" "SEC24D_000041" "g.119661914G>A" "" "" "" "SEC24D(NM_001318066.1):c.2145C>T (p.T715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801479" "0" "10" "4" "119673889" "119673889" "subst" "0.00919113" "02329" "SEC24D_000023" "g.119673889G>A" "" "" "" "SEC24D(NM_001318066.1):c.1579C>T (p.(Leu527Phe)), SEC24D(NM_001318066.2):c.1579C>T (p.L527F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850510" "0" "30" "4" "119652555" "119652555" "subst" "0.000406686" "01943" "SEC24D_000042" "g.119652555G>A" "" "" "" "SEC24D(NM_001318066.1):c.2787C>T (p.F929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850511" "0" "10" "4" "119736701" "119736701" "subst" "0.00229837" "02329" "SEC24D_000027" "g.119736701G>A" "" "" "" "SEC24D(NM_001318066.1):c.578C>T (p.(Pro193Leu)), SEC24D(NM_001318066.2):c.578C>T (p.P193L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859215" "0" "30" "4" "119661921" "119661921" "subst" "0.000870499" "01804" "SEC24D_000043" "g.119661921T>G" "" "" "" "SEC24D(NM_001318066.1):c.2138A>C (p.(Asn713Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859216" "0" "10" "4" "119736626" "119736626" "subst" "0.00983229" "02329" "SEC24D_000026" "g.119736626G>C" "" "" "" "SEC24D(NM_001318066.1):c.653C>G (p.(Ala218Gly)), SEC24D(NM_001318066.2):c.653C>G (p.A218G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886109" "0" "30" "4" "119718928" "119718928" "subst" "8.12565E-6" "02329" "SEC24D_000044" "g.119718928G>A" "" "" "" "SEC24D(NM_001318066.2):c.954C>T (p.Y318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886110" "0" "10" "4" "119745768" "119745768" "subst" "0.00451013" "02329" "SEC24D_000028" "g.119745768A>G" "" "" "" "SEC24D(NM_001318066.1):c.248+7T>C (p.(=)), SEC24D(NM_001318066.2):c.248+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912043" "0" "50" "4" "119689417" "119689417" "subst" "0.000166757" "01804" "SEC24D_000045" "g.119689417T>C" "" "" "" "SEC24D(NM_014822.2):c.1091A>G (p.(Asn364Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912044" "0" "30" "4" "119736288" "119736288" "subst" "0" "02329" "SEC24D_000046" "g.119736288T>C" "" "" "" "SEC24D(NM_001318066.2):c.699A>G (p.A233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924044" "0" "30" "4" "119673136" "119673136" "subst" "1.6842E-5" "02329" "SEC24D_000047" "g.119673136G>A" "" "" "" "SEC24D(NM_001318066.2):c.1710+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924045" "0" "30" "4" "119674025" "119674025" "subst" "0.00127453" "02329" "SEC24D_000048" "g.119674025C>T" "" "" "" "SEC24D(NM_001318066.2):c.1443G>A (p.T481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924046" "0" "30" "4" "119745842" "119745842" "subst" "0.00176034" "02329" "SEC24D_000029" "g.119745842G>T" "" "" "" "SEC24D(NM_001318066.1):c.181C>A (p.P61T, p.(Pro61Thr)), SEC24D(NM_001318066.2):c.181C>A (p.P61T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948251" "0" "30" "4" "119644826" "119644826" "subst" "0.00375442" "02329" "SEC24D_000049" "g.119644826C>A" "" "" "" "SEC24D(NM_001318066.2):c.2962-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948252" "0" "30" "4" "119665200" "119665200" "subst" "0.000220081" "02329" "SEC24D_000050" "g.119665200C>T" "" "" "" "SEC24D(NM_001318066.2):c.1941G>A (p.S647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976083" "0" "30" "4" "119659411" "119659411" "subst" "0" "01804" "SEC24D_000051" "g.119659411C>A" "" "" "" "SEC24D(NM_014822.4):c.2496+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976084" "0" "50" "4" "119674003" "119674003" "subst" "4.32459E-6" "01804" "SEC24D_000052" "g.119674003T>G" "" "" "" "SEC24D(NM_014822.4):c.1462A>C (p.(Ile488Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976085" "0" "30" "4" "119689322" "119689322" "dup" "0" "02329" "SEC24D_000053" "g.119689322dup" "" "" "" "SEC24D(NM_001318066.2):c.1183+6dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976086" "0" "10" "4" "119689472" "119689472" "subst" "0.00383009" "02329" "SEC24D_000054" "g.119689472G>C" "" "" "" "SEC24D(NM_001318066.2):c.1045-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976087" "0" "30" "4" "119736950" "119736950" "subst" "0" "02329" "SEC24D_000055" "g.119736950A>T" "" "" "" "SEC24D(NM_001318066.2):c.398-69T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994053" "0" "30" "4" "119654036" "119654036" "subst" "0.00129049" "02329" "SEC24D_000019" "g.119654036G>A" "" "" "" "SEC24D(NM_001318066.2):c.2531C>T (p.P844L), SEC24D(NM_014822.2):c.2528C>T (p.(Pro843Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994054" "0" "30" "4" "119661893" "119661893" "subst" "7.72772E-5" "02329" "SEC24D_000056" "g.119661893G>A" "" "" "" "SEC24D(NM_001318066.2):c.2166C>T (p.I722=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994055" "0" "10" "4" "119736850" "119736850" "subst" "0.00169569" "02329" "SEC24D_000057" "g.119736850G>A" "" "" "" "SEC24D(NM_001318066.2):c.429C>T (p.P143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000994056" "0" "10" "4" "119745884" "119745884" "subst" "0.00138682" "02329" "SEC24D_000030" "g.119745884G>A" "" "" "" "SEC24D(NM_001318066.2):c.139C>T (p.P47S), SEC24D(NM_014822.2):c.139C>T (p.(Pro47Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024885" "0" "10" "4" "119674060" "119674061" "dup" "0" "02329" "SEC24D_000058" "g.119674060_119674061dup" "" "" "" "SEC24D(NM_001318066.2):c.1425-10_1425-9dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034291" "0" "50" "4" "119652613" "119652613" "subst" "0" "01804" "SEC24D_000059" "g.119652613G>C" "" "" "" "SEC24D(NM_014822.4):c.2726C>G (p.(Ser909Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034292" "0" "50" "4" "119736786" "119736786" "subst" "0" "01804" "SEC24D_000060" "g.119736786G>C" "" "" "" "SEC24D(NM_014822.4):c.493C>G (p.(Gln165Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051824" "0" "50" "4" "119660331" "119660331" "subst" "5.70958E-5" "01804" "SEC24D_000061" "g.119660331C>T" "" "" "" "SEC24D(NM_014822.4):c.2350G>A (p.(Ala784Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051825" "0" "50" "4" "119666133" "119666133" "subst" "0.000158721" "01804" "SEC24D_000062" "g.119666133T>A" "" "" "" "SEC24D(NM_014822.4):c.1790A>T (p.(Asp597Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051826" "0" "50" "4" "119689456" "119689456" "subst" "4.88978E-5" "01804" "SEC24D_000063" "g.119689456T>C" "" "" "" "SEC24D(NM_014822.4):c.1052A>G (p.(Tyr351Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062699" "3" "90" "4" "119757221" "119757221" "subst" "0" "00006" "SEC24D_000064" "g.119757221G>A" "" "{PMID:Essawi 2026:41495099}" "" "" "normal mRNA levels, reduced protein expression" "Germline" "yes" "" "0" "" "" "g.118836066G>A" "" "likely pathogenic (recessive)" "" "0001062700" "21" "90" "4" "119754740" "119754740" "dup" "0" "00006" "SEC24D_000065" "g.119754740dup" "" "{PMID:Moosa 2016:26467156}" "" "113dupC" "" "Germline" "" "" "0" "" "" "g.118833585dup" "" "pathogenic (recessive)" "" "0001062701" "11" "90" "4" "119659416" "119659416" "subst" "0" "00006" "SEC24D_000066" "g.119659416C>A" "" "{PMID:Moosa 2016:26467156}" "" "" "in vitro analysis shows affected splicing" "Germline" "" "" "0" "" "" "g.118738261C>A" "" "pathogenic (recessive)" "" "0001062702" "21" "90" "4" "119718941" "119718941" "subst" "5.29976E-5" "00006" "SEC24D_000006" "g.119718941C>T" "" "{PMID:Takeyari 2018:30462379}" "" "" "" "Germline" "" "" "0" "" "" "g.118797786C>T" "" "pathogenic (recessive)" "" "0001062703" "10" "90" "4" "119674015" "119674015" "subst" "0" "00006" "SEC24D_000067" "g.119674015G>A" "" "{PMID:Takeyari 2018:30462379}" "" "" "father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.118752860G>A" "" "pathogenic (recessive)" "" "0001062705" "11" "90" "4" "119653957" "119653958" "del" "0" "00006" "SEC24D_000068" "g.119653957_119653958del" "" "{PMID:Miao 2022:36186652}" "" "2609_2610delGA" "" "Germline" "" "" "0" "" "" "g.118732802_118732803del" "" "pathogenic (recessive)" "" "0001062706" "21" "70" "4" "119718941" "119718941" "subst" "5.29976E-5" "00006" "SEC24D_000006" "g.119718941C>T" "" "{PMID:Miao 2022:36186652}" "" "" "" "Germline" "" "" "0" "" "" "g.118797786C>T" "" "likely pathogenic (recessive)" "" "0001062743" "21" "90" "4" "119661871" "119661871" "subst" "0.000146406" "03894" "SEC24D_000071" "g.119661871C>T" "" "{PMID:Li 2020:33093841}" "" "" "" "Germline" "" "" "0" "" "" "g.118740716C>T" "" "pathogenic (recessive)" "" "0001062744" "21" "90" "4" "119727036" "119727036" "subst" "0" "03894" "SEC24D_000007" "g.119727036G>A" "" "{PMID:Li 2020:33093841}" "" "" "" "Germline" "" "" "0" "" "" "g.118805881G>A" "" "pathogenic (recessive)" "" "0001062745" "11" "90" "4" "119754740" "119754740" "dup" "0" "03894" "SEC24D_000065" "g.119754740dup" "" "{PMID:Li 2020:33093841}" "" "113dupC" "" "Germline" "" "" "0" "" "" "g.118833585dup" "" "pathogenic (recessive)" "" "0001062763" "11" "90" "4" "119649805" "119649805" "subst" "0.000309897" "03894" "SEC24D_000069" "g.119649805T>C" "" "{PMID:Li 2020:33093841}" "" "" "" "Germline" "" "" "0" "" "" "g.118728650T>C" "" "pathogenic (recessive)" "" "0001062764" "11" "90" "4" "119718941" "119718941" "subst" "5.29976E-5" "03894" "SEC24D_000006" "g.119718941C>T" "" "{PMID:Li 2020:33093841}" "" "" "" "Germline" "" "" "0" "" "" "g.118797786C>T" "" "pathogenic (recessive)" "" "0001062765" "21" "90" "4" "119660385" "119660385" "subst" "0" "03894" "SEC24D_000070" "g.119660385C>T" "" "{PMID:Li 2020:33093841}" "" "" "" "Germline" "" "" "0" "" "" "g.118739230C>T" "" "pathogenic (recessive)" "" ## 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 SEC24D ## Count = 81 "{{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}}" "0000234452" "00018613" "90" "11" "0" "11" "0" "c.11A>C" "r.(?)" "p.(Gln4Pro)" "2" "0000307864" "00018613" "30" "1065" "0" "1065" "0" "c.1065C>T" "r.(?)" "p.(His355=)" "" "0000307865" "00018613" "30" "305" "0" "305" "0" "c.305C>G" "r.(?)" "p.(Pro102Arg)" "" "0000459796" "00018613" "70" "697" "0" "697" "0" "c.697G>C" "r.(?)" "p.(Gly233Arg)" "" "0000521361" "00018613" "30" "2959" "-6" "2959" "-6" "c.2959-6dup" "r.(=)" "p.(=)" "" "0000521362" "00018613" "30" "2784" "0" "2784" "0" "c.2784C>A" "r.(?)" "p.(Phe928Leu)" "" "0000521363" "00018613" "30" "2536" "0" "2536" "0" "c.2536A>G" "r.(?)" "p.(Met846Val)" "" "0000521364" "00018613" "30" "2528" "0" "2528" "0" "c.2528C>T" "r.(?)" "p.(Pro843Leu)" "" "0000521365" "00018613" "30" "1708" "-2" "1708" "-2" "c.1708-2A>T" "r.spl?" "p.?" "" "0000521367" "00018613" "30" "1708" "-3" "1708" "-3" "c.1708-3dup" "r.spl?" "p.?" "" "0000521368" "00018613" "30" "1576" "0" "1576" "0" "c.1576C>T" "r.(?)" "p.(Leu526Phe)" "" "0000521370" "00018613" "30" "778" "0" "778" "0" "c.778G>T" "r.(?)" "p.(Asp260Tyr)" "" "0000521371" "00018613" "30" "653" "0" "653" "0" "c.653C>G" "r.(?)" "p.(Ala218Gly)" "" "0000521372" "00018613" "30" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Pro193Leu)" "" "0000521373" "00018613" "30" "248" "7" "248" "7" "c.248+7T>C" "r.(=)" "p.(=)" "" "0000521374" "00018613" "30" "181" "0" "181" "0" "c.181C>A" "r.(?)" "p.(Pro61Thr)" "" "0000521375" "00018613" "30" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Pro47Ser)" "" "0000521376" "00018613" "30" "125" "0" "125" "0" "c.125T>C" "r.(?)" "p.(Met42Thr)" "" "0000621342" "00018613" "10" "673" "8" "673" "8" "c.673+8G>A" "r.(=)" "p.(=)" "" "0000621343" "00018613" "10" "483" "0" "483" "0" "c.483T>G" "r.(?)" "p.(Pro161=)" "" "0000689216" "00018613" "10" "1422" "-9" "1422" "-9" "c.1422-9del" "r.(=)" "p.(=)" "" "0000689217" "00018613" "30" "249" "-8" "249" "-8" "c.249-8T>C" "r.(=)" "p.(=)" "" "0000719716" "00018613" "50" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Cys)" "" "0000719717" "00018613" "10" "1422" "-9" "1422" "-9" "c.1422-9dup" "r.(=)" "p.(=)" "" "0000719718" "00018613" "30" "181" "0" "181" "0" "c.181C>A" "r.(?)" "p.(Pro61Thr)" "" "0000719719" "00018613" "30" "86" "0" "86" "0" "c.86A>G" "r.(?)" "p.(Tyr29Cys)" "" "0000763156" "00018613" "70" "697" "0" "697" "0" "c.697G>C" "r.(?)" "p.(Gly233Arg)" "" "0000784691" "00018613" "99" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Gln205*)" "5" "0000784692" "00018613" "99" "875" "0" "875" "0" "c.875C>T" "r.(?)" "p.(Pro292Leu)" "7" "0000784693" "00018613" "99" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Arg313His)" "8" "0000784694" "00018613" "99" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Cys908Tyr)" "21" "0000784695" "00018613" "99" "2842" "0" "2842" "0" "c.2842C>T" "r.(?)" "p.(Ser948Pro)" "21" "0000784696" "00018613" "99" "2933" "0" "2933" "0" "c.2933A>C" "r.(?)" "p.(Gln978Pro)" "22" "0000784697" "00018613" "99" "3044" "0" "3044" "0" "c.3044C>T" "r.(?)" "p.(Ser1015Phe)" "23" "0000784698" "00018613" "99" "3044" "0" "3044" "0" "c.3044C>T" "r.(?)" "p.(Ser1015Phe)" "23" "0000801475" "00018613" "30" "2978" "0" "2978" "0" "c.2978G>A" "r.(?)" "p.(Arg993Gln)" "" "0000801476" "00018613" "50" "2755" "0" "2755" "0" "c.2755T>C" "r.(?)" "p.(Phe919Leu)" "" "0000801477" "00018613" "50" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Cys)" "" "0000801478" "00018613" "30" "2142" "0" "2142" "0" "c.2142C>T" "r.(?)" "p.(Thr714=)" "" "0000801479" "00018613" "10" "1576" "0" "1576" "0" "c.1576C>T" "r.(?)" "p.(Leu526Phe)" "" "0000850510" "00018613" "30" "2784" "0" "2784" "0" "c.2784C>T" "r.(?)" "p.(Phe928=)" "" "0000850511" "00018613" "10" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Pro193Leu)" "" "0000859215" "00018613" "30" "2135" "0" "2135" "0" "c.2135A>C" "r.(?)" "p.(Asn712Thr)" "" "0000859216" "00018613" "10" "653" "0" "653" "0" "c.653C>G" "r.(?)" "p.(Ala218Gly)" "" "0000886109" "00018613" "30" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(Tyr317=)" "" "0000886110" "00018613" "10" "248" "7" "248" "7" "c.248+7T>C" "r.(=)" "p.(=)" "" "0000912043" "00018613" "50" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(Asn364Ser)" "" "0000912044" "00018613" "30" "696" "0" "696" "0" "c.696A>G" "r.(?)" "p.(Ala232=)" "" "0000924044" "00018613" "30" "1707" "15" "1707" "15" "c.1707+15C>T" "r.(=)" "p.(=)" "" "0000924045" "00018613" "30" "1440" "0" "1440" "0" "c.1440G>A" "r.(?)" "p.(Thr480=)" "" "0000924046" "00018613" "30" "181" "0" "181" "0" "c.181C>A" "r.(?)" "p.(Pro61Thr)" "" "0000948251" "00018613" "30" "2959" "-16" "2959" "-16" "c.2959-16G>T" "r.(=)" "p.(=)" "" "0000948252" "00018613" "30" "1938" "0" "1938" "0" "c.1938G>A" "r.(?)" "p.(=)" "" "0000976083" "00018613" "30" "2496" "5" "2496" "5" "c.2496+5G>T" "r.spl?" "p.?" "" "0000976084" "00018613" "50" "1462" "0" "1462" "0" "c.1462A>C" "r.(?)" "p.(Ile488Leu)" "" "0000976085" "00018613" "30" "1180" "6" "1180" "6" "c.1180+6dup" "r.(=)" "p.(=)" "" "0000976086" "00018613" "10" "1042" "-6" "1042" "-6" "c.1042-6C>G" "r.(=)" "p.(=)" "" "0000976087" "00018613" "30" "398" "-69" "398" "-69" "c.398-69T>A" "r.(=)" "p.(=)" "" "0000994053" "00018613" "30" "2528" "0" "2528" "0" "c.2528C>T" "r.(?)" "p.(Pro843Leu)" "" "0000994054" "00018613" "30" "2163" "0" "2163" "0" "c.2163C>T" "r.(?)" "p.(=)" "" "0000994055" "00018613" "10" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(=)" "" "0000994056" "00018613" "10" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Pro47Ser)" "" "0001024885" "00018613" "10" "1422" "-10" "1422" "-9" "c.1422-10_1422-9dup" "r.(=)" "p.(=)" "" "0001034291" "00018613" "50" "2726" "0" "2726" "0" "c.2726C>G" "r.(?)" "p.(Ser909Cys)" "" "0001034292" "00018613" "50" "493" "0" "493" "0" "c.493C>G" "r.(?)" "p.(Gln165Glu)" "" "0001051824" "00018613" "50" "2350" "0" "2350" "0" "c.2350G>A" "r.(?)" "p.(Ala784Thr)" "" "0001051825" "00018613" "50" "1790" "0" "1790" "0" "c.1790A>T" "r.(?)" "p.(Asp597Val)" "" "0001051826" "00018613" "50" "1052" "0" "1052" "0" "c.1052A>G" "r.(?)" "p.(Tyr351Cys)" "" "0001062699" "00018613" "90" "-167" "0" "-167" "0" "c.-167C>T" "r.-167C>T" "p.Met1ext-56" "1" "0001062700" "00018613" "90" "113" "0" "113" "0" "c.113dup" "r.(113dup)" "p.(Thr39AsnfsTer16)" "" "0001062701" "00018613" "90" "2496" "0" "2496" "0" "c.2496G>T" "r.spl" "p.?" "" "0001062702" "00018613" "90" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Arg313His)" "" "0001062703" "00018613" "90" "1450" "0" "1450" "0" "c.1450C>T" "r.(?)" "p.(Arg484*)" "" "0001062705" "00018613" "90" "2609" "0" "2610" "0" "c.2609_2610del" "r.(?)" "p.(Arg870Thrfs*10)" "" "0001062706" "00018613" "70" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Arg313His)" "" "0001062743" "00018613" "90" "2185" "0" "2185" "0" "c.2185G>A" "r.(?)" "p.(Val729Met)" "16" "0001062744" "00018613" "90" "875" "0" "875" "0" "c.875C>T" "r.(?)" "p.(Pro292Leu)" "6" "0001062745" "00018613" "90" "113" "0" "113" "0" "c.113dup" "r.(?)" "p.(Thr39AsnfsTer16)" "1" "0001062763" "00018613" "90" "2869" "0" "2869" "0" "c.2869A>G" "r.(?)" "p.(Thr957Ala)" "21" "0001062764" "00018613" "90" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Arg313His)" "7" "0001062765" "00018613" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Gly766Ser)" "17" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000051477" "0000234452" "0000226757" "0000459796" "0000362782" "0000763156" "0000374008" "0000784691" "0000374008" "0000784697" "0000374009" "0000784692" "0000374009" "0000784693" "0000374010" "0000784694" "0000374010" "0000784695" "0000374011" "0000784696" "0000374011" "0000784698" "0000473805" "0001062699" "0000473806" "0001062700" "0000473806" "0001062701" "0000473807" "0001062702" "0000473807" "0001062703" "0000473808" "0001062705" "0000473808" "0001062706" "0000473844" "0001062743" "0000473844" "0001062763" "0000473845" "0001062744" "0000473845" "0001062764" "0000473846" "0001062745" "0000473846" "0001062765"