### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL25A1) # 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}}" "COL25A1" "collagen, type XXV, alpha 1" "4" "q25" "unknown" "NC_000004.11" "UD_136018559686" "" "http://www.LOVD.nl/COL25A1" "" "1" "18603" "84570" "610004" "1" "1" "1" "1" "" "" "g" "https://databases.lovd.nl/shared/refseq/COL25A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-02-14 18:31:03" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025678" "COL25A1" "transcript variant 1" "001" "NM_198721.2" "" "NP_942014.1" "" "" "" "-531" "5171" "1965" "110223799" "109731877" "00006" "2022-01-13 08:23:46" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08" "04191" "CCDD" "dysinnervation disorder, cranial, congenital (CCDD)" "" "" "" "" "" "00006" "2015-02-14 17:51:00" "00006" "2015-12-08 23:59:30" "04192" "DURS" "Duane retraction syndrome (DURS)" "" "126800" "" "" "" "00006" "2015-02-14 18:37:58" "00006" "2015-12-08 23:53:05" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04423" "CFEOM5" "fibrosis of extraocular muscles, congenital, type 5 (CFEOM-5)" "AR" "616219" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "06648" "AMC2" "arthrogryposis multiplex congenita, type 2, neurogenic" "AR" "208100" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2024-10-01 09:43:19" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "COL25A1" "04423" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00032332" "" "" "" "1" "" "00006" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00032333" "" "" "" "1" "" "00006" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "patient, unaffected heterozygous carrier brother" "M" "no" "Saudi Arabia" "" "0" "" "" "" "" "00398811" "" "" "" "1" "" "03740" "" "" "" "" "" "" "" "" "" "" "Individual A1" "00398812" "" "" "" "1" "" "03740" "" "" "" "" "" "" "0" "" "" "" "Patient B1" "00398813" "" "" "" "1" "" "03740" "" "" "" "" "" "" "" "" "" "" "Patient C1" "00409875" "" "" "" "1" "" "00000" "{PMID:Thompson 2001:11381255}" "" "M" "no" "" "" "0" "" "" "" "2910" "00456509" "" "" "" "1" "" "03578" "{PMID:Harms 2025:40158061}" "" "M" "yes" "" "" "" "" "" "" "S1" "00456510" "" "" "" "1" "" "03578" "{PMID:Harms 2025:40158061}" "" "M" "yes" "" "" "" "" "" "" "S2" "00456559" "" "" "" "1" "" "03578" "{PMID:Harms 2025:40158061}" "" "M" "no" "" "00y03m" "" "" "" "" "S3" "00456560" "" "" "" "1" "" "03578" "{PMID:Harms 2025:40158061}" "" "?" "yes" "" "" "" "" "" "" "S4" "00456561" "" "" "" "1" "" "03578" "{PMID:Harms 2025:40158061}" "" "?" "yes" "" "" "" "" "" "" "S5" "00456562" "" "" "" "1" "" "03578" "{PMID:Harms 2025:40158061}" "" "M" "yes" "" "" "" "" "" "" "S6" "00456672" "" "" "" "1" "" "03578" "{PMID:Harms 2025:40158061}" "" "F" "yes" "" "" "" "" "" "" "S7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00032332" "04191" "00032333" "04192" "00398811" "06648" "00398812" "06648" "00398813" "06648" "00409875" "04214" "00456509" "00026" "00456510" "00026" "00456559" "00026" "00456560" "01666" "00456561" "01666" "00456562" "01666" "00456672" "01666" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 01666, 04191, 04192, 04214, 04423, 06648 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000025798" "04191" "00032332" "00006" "Familial, autosomal recessive" "" "see paper; congenital cranial dysinnervation disorder, congenital ptosis or Duane retraction syndrome (DRS)" "" "" "" "" "" "" "" "" "" "0000025799" "04192" "00032333" "00006" "Isolated (sporadic)" "" "see paper; exotropic DURS, .." "" "" "" "" "" "" "" "" "" "0000301989" "04214" "00409875" "00000" "Familial, autosomal recessive" "25y" "no electroretinogram responses at age 15; currently, no central vision" "" "3y" "nystagmus" "" "" "" "" "early onset retinal dystrophy" "" "0000345017" "00026" "00456509" "03578" "Familial, autosomal recessive" "08y" "Decreased fetal movement [HP:0001558]; Hypotonia [HP:0001252]; Distal amyotrophy [HP:0003693]; Hypokinesia [HP:0002375]; Arthrogryposis multiplex congenita [HP:0002804]; Shoulder flexion contracture [HP:0003044]; Elbow flexion contractures \r\n[HP:0002987]; Camptodactyly of finger [HP:0100490]; Hip dysplasia [HP:0001385]; Knee flexion contractures [HP:0006380]; Scoliosis [HP:0002650]; Abnormal facial shape [HP:0001999]" "" "" "" "" "" "" "" "" "" "0000345018" "00026" "00456510" "03578" "Familial, autosomal recessive" "06y" "Decreased fetal movement [HP:0001558]; Hypotonia [HP:0001252]; Distal amyotrophy [HP:0003693]; Hypokinesia [HP:0002375]; Arthrogryposis multiplex congenita [HP:0002804]; Shoulder flexion contracture [HP:0003044]; Elbow flexion contractures \r\n[HP:0002987]; Camptodactyly of finger [HP:0100490]; Hip dysplasia [HP:0001385]; Knee flexion contractures [HP:0006380]; Scoliosis [HP:0002650]; Ptosis [HP:0000508]; Abnormal facial shape [HP:0001999]; Cryptorchidism [HP:0000028]" "" "" "" "" "" "" "" "" "" "0000345067" "00026" "00456559" "03578" "Familial, autosomal recessive" "00y03m" "Fetal akinesia sequence [HP:0001989]; Neonatal respiratory distress [HP:0002643]; Hypotonia [HP:0001252]; Distal amyotrophy [HP:0003693]; Hypokinesia [HP:0002375]; Arthrogryposis multiplex congenita [HP:0002804]; Shoulder flexion contracture [HP:0003044]; Elbow flexion contractures [HP:0002987]; Wrist flexion contractures [HP:0001239]; Camptodactyly of finger [HP:0100490]; Hip contracture [HP:0003273]; Knee flexion contractures [HP:0006380]; Rocker bottom foot [HP:0001838]; Scoliosis [HP:0002650]; Abnormality of eye movement [HP:0000496]; Abnormal facial shape [HP:0001999]" "" "" "" "" "" "" "" "" "" "0000345068" "01666" "00456560" "03578" "Familial, autosomal recessive" "" "edema [HP:0000969]" "" "" "" "" "" "" "" "" "" "0000345069" "01666" "00456561" "03578" "Familial, autosomal recessive" "" "Increased nuchal translucency [HP:0010880]; edema [HP:0000969]" "" "" "" "" "" "" "" "" "" "0000345070" "01666" "00456562" "03578" "Familial, autosomal recessive" "" "Anhydramnios [HP:0025700]; Distal amyotrophy [HP:0003693]; Arthrogryposis multiplex congenita [HP:0002804]; Shoulder flexion contracture [HP:0003044]; Elbow flexion contractures \r\n[HP:0002987]; Wrist flexion contractures [HP:0001239]; Camptodactyly of finger [HP:0100490]; Hip contracture [HP:0003273]; Knee flexion contractures [HP:0006380]; Scoliosis [HP:0002650]; Abnormal facial shape [HP:0001999]; Hydrops fetalis [HP:0001789]; Increased nuchal translucency [HP:0010880]; Talipes equinovarus [HP:0001762]" "" "" "" "" "" "" "" "" "" "0000345180" "01666" "00456672" "03578" "Familial, autosomal recessive" "" "Hydrops fetalis [HP:0001789]; Cystic hygroma [HP:0000476]" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000032399" "00032332" "1" "00006" "00006" "2015-02-14 17:55:28" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000032400" "00032333" "1" "00006" "00006" "2015-02-14 18:39:09" "" "" "SEQ" "DNA" "" "" "0000400052" "00398811" "1" "03740" "03740" "2022-01-13 08:06:13" "" "" "SEQ-NG" "DNA" "" "" "0000400053" "00398812" "1" "03740" "03740" "2022-01-13 08:13:19" "" "" "SEQ-NG" "DNA" "" "" "0000400054" "00398813" "1" "03740" "03740" "2022-01-13 08:16:53" "" "" "SEQ-NG" "DNA" "" "" "0000411138" "00409875" "1" "00000" "03840" "2022-05-13 11:25:44" "" "" "STR;SEQ" "DNA" "blood" "" "0000458126" "00456509" "1" "03578" "03578" "2024-10-28 13:44:49" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000458127" "00456510" "1" "03578" "03578" "2024-10-28 13:52:00" "" "" "SEQ" "DNA" "blood" "" "0000458176" "00456559" "1" "03578" "03578" "2024-10-28 14:42:14" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000458177" "00456560" "1" "03578" "03578" "2024-10-28 14:55:25" "" "" "arrayCNV" "DNA" "blood" "" "0000458178" "00456561" "1" "03578" "03578" "2024-10-28 15:01:56" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000458179" "00456562" "1" "03578" "03578" "2024-10-28 15:10:36" "" "" "SEQ-NG-I" "DNA" "blood" "WGS" "0000458289" "00456672" "1" "03578" "03578" "2024-10-28 15:48:39" "" "" "SEQ-NG-I" "DNA" "blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000032399" "COL25A1" "0000032400" "COL25A1" "0000411138" "LRAT" "0000458126" "COL25A1" "0000458127" "COL25A1" "0000458176" "COL25A1" "0000458177" "COL25A1" "0000458178" "COL25A1" "0000458179" "COL25A1" "0000458289" "COL25A1" ## 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 = 76 "{{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}}" "0000058481" "3" "90" "4" "109784483" "109784483" "subst" "1.62938E-5" "00006" "COL25A1_000001" "g.109784483C>T" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "not in 100 control chromosomes" "Germline" "yes" "" "0" "" "" "g.108863327C>T" "" "pathogenic" "" "0000058482" "1" "90" "4" "109767321" "109767321" "subst" "0" "00006" "COL25A1_000002" "g.109767321C>A" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.108846165C>A" "" "pathogenic" "" "0000058483" "0" "90" "4" "109852901" "109976457" "" "0" "00006" "COL25A1_000003" "g.(?_109852901)_(109976457_?)del" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "109852901–109976457del" "del exon 4-10, var not present in brother" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000058484" "0" "10" "4" "110222845" "110222845" "subst" "0.0208315" "00006" "COL25A1_000004" "g.110222845T>C" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs4464631" "0" "" "" "g.109301689T>C" "" "benign" "" "0000058485" "0" "10" "4" "109971426" "109971426" "subst" "0" "00006" "COL25A1_000005" "g.109971426T>C" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.109050270T>C" "" "benign" "" "0000058486" "0" "10" "4" "109971415" "109971415" "subst" "0" "00006" "COL25A1_000006" "g.109971415T>A" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.109050259T>A" "" "benign" "" "0000058487" "0" "10" "4" "109971414" "109971414" "subst" "0" "00006" "COL25A1_000007" "g.109971414T>A" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs1863292" "0" "" "" "g.109050258T>A" "" "benign" "" "0000058488" "0" "10" "4" "109971395" "109971395" "subst" "0" "00006" "COL25A1_000008" "g.109971395A>G" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.109050239A>G" "" "benign" "" "0000058489" "0" "10" "4" "109971386" "109971386" "subst" "0" "00006" "COL25A1_000009" "g.109971386T>G" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.109050230T>G" "" "benign" "" "0000058490" "0" "10" "4" "109971382" "109971382" "subst" "0" "00006" "COL25A1_000010" "g.109971382C>A" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.109050226C>A" "" "benign" "" "0000058491" "0" "10" "4" "109971379" "109971379" "subst" "0" "00006" "COL25A1_000011" "g.109971379T>C" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.109050223T>C" "" "benign" "" "0000058492" "0" "10" "4" "109971378" "109971378" "subst" "0.275006" "00006" "COL25A1_000012" "g.109971378T>C" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs1863291" "0" "" "" "g.109050222T>C" "" "benign" "" "0000058493" "0" "10" "4" "109971375" "109971375" "subst" "0" "00006" "COL25A1_000013" "g.109971375C>T" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.109050219C>T" "" "benign" "" "0000058494" "0" "10" "4" "109971365" "109971365" "subst" "0" "00006" "COL25A1_000014" "g.109971365T>C" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.109050209T>C" "" "benign" "" "0000058495" "0" "10" "4" "109971360" "109971360" "subst" "0" "00006" "COL25A1_000015" "g.109971360T>G" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.109050204T>G" "" "benign" "" "0000058496" "0" "10" "4" "109971343" "109971343" "subst" "0" "00006" "COL25A1_000016" "g.109971343A>C" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.109050187A>C" "" "benign" "" "0000058497" "0" "10" "4" "109971325" "109971325" "subst" "0" "00006" "COL25A1_000017" "g.109971325C>T" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.109050169C>T" "" "benign" "" "0000058498" "0" "10" "4" "109971320" "109971320" "subst" "1.63899E-5" "00006" "COL25A1_000018" "g.109971320C>T" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.109050164C>T" "" "benign" "" "0000058499" "0" "10" "4" "109969381" "109969381" "subst" "0.00375793" "00006" "COL25A1_000019" "g.109969381T>C" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs76962717" "0" "" "" "g.109048225T>C" "" "benign" "" "0000058500" "0" "10" "4" "109969337" "109969337" "subst" "0.458998" "00006" "COL25A1_000020" "g.109969337G>T" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs3108954" "0" "" "" "g.109048181G>T" "" "benign" "" "0000058501" "0" "10" "4" "109969224" "109969224" "subst" "0" "00006" "COL25A1_000021" "g.109969224T>C" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs111515872" "0" "" "" "g.109048068T>C" "" "benign" "" "0000058502" "0" "10" "4" "109931457" "109931457" "subst" "0" "00006" "COL25A1_000022" "g.109931457C>T" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.109010301C>T" "" "benign" "" "0000058503" "0" "10" "4" "109895719" "109895719" "subst" "0" "00006" "COL25A1_000023" "g.109895719A>G" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.108974563A>G" "" "benign" "" "0000058504" "0" "10" "4" "109862638" "109862638" "subst" "0.00144274" "00006" "COL25A1_000024" "g.109862638G>A" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs150207802" "0" "" "" "g.108941482G>A" "" "benign" "" "0000058505" "0" "10" "4" "109861885" "109861885" "subst" "0" "00006" "COL25A1_000025" "g.109861885T>C" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs114376784" "0" "" "" "g.108940729T>C" "" "benign" "" "0000058506" "0" "10" "4" "109805392" "109805392" "subst" "0.00010983" "00006" "COL25A1_000026" "g.109805392T>C" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "" "0" "" "" "g.108884236T>C" "" "benign" "" "0000058507" "0" "10" "4" "109782004" "109782004" "subst" "0" "00006" "COL25A1_000027" "g.109782004T>C" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs72668336" "0" "" "" "g.108860848T>C" "" "benign" "" "0000058508" "0" "10" "4" "109780921" "109780921" "subst" "0.0960286" "00006" "COL25A1_000028" "g.109780921G>T" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs11725279" "0" "" "" "g.108859765G>T" "" "benign" "" "0000058509" "0" "10" "4" "109773340" "109773340" "subst" "0" "00006" "COL25A1_000029" "g.109773340G>A" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs373014276" "0" "" "" "g.108852184G>A" "" "benign" "" "0000058510" "0" "10" "4" "109769899" "109769899" "subst" "0.826384" "00006" "COL25A1_000030" "g.109769899C>T" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs13135591" "0" "" "" "g.108848743C>T" "" "benign" "" "0000058511" "0" "10" "4" "109769844" "109769844" "subst" "0" "00006" "COL25A1_000031" "g.109769844C>T" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs13130308" "0" "" "" "g.108848688C>T" "" "benign" "" "0000058512" "0" "10" "4" "109769832" "109769832" "subst" "0" "00006" "COL25A1_000032" "g.109769832A>G" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs78189306" "0" "" "" "g.108848676A>G" "" "benign" "" "0000058513" "0" "10" "4" "109766290" "109766290" "subst" "0" "00006" "COL25A1_000033" "g.109766290T>G" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs11098004" "0" "" "" "g.108845134T>G" "" "benign" "" "0000058514" "0" "10" "4" "109762918" "109762918" "subst" "0.663815" "00006" "COL25A1_000034" "g.109762918C>A" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs11942576" "0" "" "" "g.108841762C>A" "" "benign" "" "0000058515" "0" "10" "4" "109748227" "109748227" "subst" "0" "00006" "COL25A1_000035" "g.109748227C>T" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs13104307" "0" "" "" "g.108827071C>T" "" "benign" "" "0000058516" "0" "10" "4" "109740390" "109740390" "subst" "0.000358893" "00006" "COL25A1_000036" "g.109740390G>C" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs188006559" "0" "" "" "g.108819234G>C" "" "benign" "" "0000058517" "0" "10" "4" "109735133" "109735133" "subst" "0.559979" "00006" "COL25A1_000000" "g.109735133T>C" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs2305436" "0" "" "" "g.108813977T>C" "" "benign" "" "0000058518" "0" "10" "4" "109735146" "109735146" "subst" "0" "00006" "COL25A1_000000" "g.109735146T>G" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs2305435" "0" "" "" "g.108813990T>G" "" "benign" "" "0000058519" "0" "10" "4" "109841743" "109841743" "subst" "0.162765" "00006" "COL25A1_000037" "g.109841743C>T" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs17596705" "0" "" "" "g.108920587C>T" "" "benign" "" "0000058520" "0" "10" "4" "109745336" "109745336" "subst" "0.322249" "00006" "COL25A1_000038" "g.109745336T>G" "" "{PMID:Shinwari 2015:25500261}, {DOI:Shinwari 2015:10.1016/j.ajhg.2014.11.006}" "" "" "" "Germline" "" "rs7689008" "0" "" "" "g.108824180T>G" "" "benign" "" "0000273956" "0" "30" "4" "109971313" "109971313" "subst" "0.000331443" "01943" "COL25A1_000040" "g.109971313C>T" "" "" "" "COL25A1(NM_198721.3):c.390G>A (p.K130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109050157C>T" "" "likely benign" "" "0000273957" "0" "30" "4" "110223167" "110223167" "subst" "1.3151E-5" "01943" "COL25A1_000043" "g.110223167C>G" "" "" "" "COL25A1(NM_198721.3):c.9G>C (p.L3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109302011C>G" "" "likely benign" "" "0000330071" "0" "50" "4" "110221801" "110221801" "subst" "8.12651E-6" "01804" "COL25A1_000041" "g.110221801T>C" "" "" "" "COL25A1(NM_001256074.1):c.305A>G (p.(Tyr102Cys)), COL25A1(NM_198721.3):c.305A>G (p.Y102C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109300645T>C" "" "VUS" "" "0000330072" "0" "50" "4" "110223141" "110223141" "subst" "7.16852E-5" "01804" "COL25A1_000042" "g.110223141C>A" "" "" "" "COL25A1(NM_001256074.1):c.35G>T (p.(Gly12Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109301985C>A" "" "VUS" "" "0000342277" "0" "30" "4" "109861714" "109861714" "subst" "3.66375E-5" "02327" "COL25A1_000044" "g.109861714C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108940558C>T" "" "likely benign" "" "0000677148" "0" "30" "4" "109784487" "109784487" "subst" "8.1414E-6" "01943" "COL25A1_000045" "g.109784487G>A" "" "" "" "COL25A1(NM_198721.3):c.1140C>T (p.A380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719688" "0" "30" "4" "109971282" "109971282" "subst" "0.000839091" "01943" "COL25A1_000046" "g.109971282G>A" "" "" "" "COL25A1(NM_198721.3):c.412+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719689" "0" "50" "4" "110221801" "110221801" "subst" "8.12651E-6" "01943" "COL25A1_000041" "g.110221801T>C" "" "" "" "COL25A1(NM_001256074.1):c.305A>G (p.(Tyr102Cys)), COL25A1(NM_198721.3):c.305A>G (p.Y102C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801446" "0" "50" "4" "109817845" "109817845" "subst" "0" "01943" "COL25A1_000047" "g.109817845G>A" "" "" "" "COL25A1(NM_198721.3):c.884C>T (p.P295L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801447" "0" "30" "4" "109861687" "109861687" "subst" "0.000146347" "01943" "COL25A1_000048" "g.109861687C>T" "" "" "" "COL25A1(NM_198721.3):c.672+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801448" "0" "50" "4" "109862535" "109862535" "subst" "1.21998E-5" "01943" "COL25A1_000049" "g.109862535C>T" "" "" "" "COL25A1(NM_198721.3):c.551G>A (p.R184H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000832803" "3" "90" "4" "109767360" "109767360" "subst" "0" "03740" "COL25A1_000050" "g.109767360T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108846204T>C" "" "pathogenic (recessive)" "" "0000832804" "3" "90" "4" "109782127" "109782127" "subst" "0" "03740" "COL25A1_000051" "g.109782127C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.108860971C>T" "" "pathogenic (recessive)" "" "0000832805" "1" "50" "4" "109861694" "109861694" "del" "0" "03740" "COL25A1_000053" "g.109861694del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108940538del" "" "pathogenic (recessive)" "" "0000832806" "2" "90" "4" "109861694" "109861694" "subst" "4.06557E-6" "03740" "COL25A1_000052" "g.109861694C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108940538C>T" "" "pathogenic (recessive)" "" "0000850476" "0" "50" "4" "109782121" "109782121" "subst" "0.000154461" "01943" "COL25A1_000055" "g.109782121G>A" "" "" "" "COL25A1(NM_198721.3):c.1204C>T (p.R402C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850477" "0" "50" "4" "109858976" "109858976" "subst" "0.000523251" "01943" "COL25A1_000056" "g.109858976T>G" "" "" "" "COL25A1(NM_198721.3):c.696A>C (p.E232D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859204" "0" "50" "4" "109766353" "109766353" "subst" "0" "01943" "COL25A1_000054" "g.109766353C>G" "" "" "" "COL25A1(NM_198721.3):c.1570G>C (p.G524R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000868170" "0" "70" "4" "110029080" "110029080" "subst" "0" "00000" "LRAT_000042" "g.110029080T>C" "" "{PMID:Thompson 2001:11381255}" "" "LRAT 396delAA, shifts the reading frame following codon 133 to encode 11 amino acids (unrelated to the wildtype sequence) followed by a premature stop codon" "error in annotation, this change should be annotated as c.400_401del; heterozygous; no second allele detected" "Germline" "yes" "" "0" "" "" "g.109591275T>C" "" "likely pathogenic" "" "0000976061" "0" "50" "4" "109784528" "109784528" "subst" "4.06944E-6" "01804" "COL25A1_000057" "g.109784528C>T" "" "" "" "COL25A1(NM_198721.4):c.1099G>A (p.(Ala367Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001012735" "3" "90" "4" "109748325" "109748325" "subst" "0" "03578" "COL25A1_000058" "g.109748325C>T" "" "{PMID:Harms 2025:40158061}" "" "" "" "Germline" "yes" "" "0" "" "" "g.108827169C>T" "" "likely pathogenic (recessive)" "ACMG" "0001012736" "3" "90" "4" "109748325" "109748325" "subst" "0" "03578" "COL25A1_000058" "g.109748325C>T" "" "{PMID:Harms 2025:40158061}" "" "" "" "Germline" "yes" "" "0" "" "" "g.108827169C>T" "" "likely pathogenic (recessive)" "ACMG" "0001012806" "11" "90" "4" "110221739" "110221739" "subst" "0" "03578" "COL25A1_000060" "g.110221739C>G" "" "{PMID:Harms 2025:40158061}" "" "" "" "Germline" "yes" "" "0" "" "" "g.109300583C>G" "" "likely pathogenic (recessive)" "ACMG" "0001012807" "21" "90" "4" "109782127" "109782127" "subst" "0" "03578" "COL25A1_000059" "g.109782127C>A" "" "{PMID:Harms 2025:40158061}" "" "" "" "Germline" "yes" "" "0" "" "" "g.108860971C>A" "" "likely pathogenic (recessive)" "ACMG" "0001012808" "3" "90" "4" "110183288" "110253626" "del" "0" "03578" "COL25A1_000061" "g.(?_110183288)_(110253626_?)del" "" "{PMID:Harms 2025:40158061}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(?_109262132)_(109332470_?)del" "" "likely pathogenic (recessive)" "ACMG" "0001012809" "3" "90" "4" "109765708" "109765708" "del" "0" "03578" "COL25A1_000062" "g.109765708del" "" "{PMID:Harms 2025:40158061}" "" "" "" "Germline" "yes" "" "0" "" "" "g.108844552del" "" "pathogenic (recessive)" "ACMG" "0001012923" "3" "90" "4" "109620064" "109750286" "del" "0" "03578" "COL25A1_000063" "g.(?_109620064)_(109750286_?)del" "" "{PMID:Harms 2025:40158061}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(?_108698908)_(108829130_?)del" "" "likely pathogenic (recessive)" "ACMG" "0001012924" "3" "90" "4" "109971321" "109971321" "subst" "0" "03578" "COL25A1_000064" "g.109971321G>A" "" "{PMID:Harms 2025:40158061}" "" "" "" "Germline" "yes" "" "0" "" "" "g.109050165G>A" "" "pathogenic (recessive)" "ACMG" "0001034253" "0" "50" "4" "109753577" "109753577" "subst" "8.22957E-6" "01804" "COL25A1_000065" "g.109753577G>A" "" "" "" "COL25A1(NM_198721.4):c.1669C>T (p.(Pro557Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034254" "0" "50" "4" "109780859" "109780859" "subst" "1.62726E-5" "01804" "COL25A1_000066" "g.109780859C>T" "" "" "" "COL25A1(NM_198721.4):c.1273G>A (p.(Ala425Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034255" "0" "50" "4" "109782136" "109782136" "subst" "6.91344E-5" "01804" "COL25A1_000067" "g.109782136G>A" "" "" "" "COL25A1(NM_198721.4):c.1198-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034256" "0" "50" "4" "109805344" "109805344" "subst" "2.43855E-5" "01804" "COL25A1_000068" "g.109805344G>A" "" "" "" "COL25A1(NM_198721.4):c.1010C>T (p.(Pro337Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034257" "0" "50" "4" "109822303" "109822305" "del" "0" "01804" "COL25A1_000069" "g.109822303_109822305del" "" "" "" "COL25A1(NM_198721.4):c.806_808del (p.(Val269del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034258" "0" "50" "4" "110222886" "110222886" "subst" "0" "01804" "COL25A1_000070" "g.110222886A>T" "" "" "" "COL25A1(NM_198721.4):c.290T>A (p.(Leu97Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034259" "0" "50" "4" "110222890" "110222890" "subst" "0" "01804" "COL25A1_000071" "g.110222890G>A" "" "" "" "COL25A1(NM_198721.4):c.286C>T (p.(Leu96Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051809" "0" "50" "4" "110223033" "110223033" "subst" "2.85528E-5" "01804" "COL25A1_000072" "g.110223033G>A" "" "" "" "COL25A1(NM_198721.4):c.143C>T (p.(Ser48Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes COL25A1 ## Count = 76 "{{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}}" "0000058481" "00025678" "90" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Gly382Arg)" "21" "0000058482" "00025678" "90" "1489" "0" "1489" "0" "c.1489G>T" "r.(?)" "p.(Gly497*)" "28" "0000058483" "00025678" "90" "368" "-5122" "708" "6063" "c.(367+1_368-5122)_(708+6063_709-1)del" "r.?" "p.?" "3i_10i" "0000058484" "00025678" "10" "297" "34" "297" "34" "c.297+34A>G" "r.(=)" "p.(=)" "2i" "0000058485" "00025678" "10" "368" "-91" "368" "-91" "c.368-91A>G" "r.(=)" "p.(=)" "3i" "0000058486" "00025678" "10" "368" "-80" "368" "-80" "c.368-80A>T" "r.(=)" "p.(=)" "3i" "0000058487" "00025678" "10" "368" "-79" "368" "-79" "c.368-79A>T" "r.(=)" "p.(=)" "3i" "0000058488" "00025678" "10" "368" "-60" "368" "-60" "c.368-60T>C" "r.(=)" "p.(=)" "3i" "0000058489" "00025678" "10" "368" "-51" "368" "-51" "c.368-51A>C" "r.(=)" "p.(=)" "3i" "0000058490" "00025678" "10" "368" "-47" "368" "-47" "c.368-47G>T" "r.(=)" "p.(=)" "3i" "0000058491" "00025678" "10" "368" "-44" "368" "-44" "c.368-44A>G" "r.(=)" "p.(=)" "3i" "0000058492" "00025678" "10" "368" "-43" "368" "-43" "c.368-43A>G" "r.(=)" "p.(=)" "3i" "0000058493" "00025678" "10" "368" "-40" "368" "-40" "c.368-40G>A" "r.(=)" "p.(=)" "3i" "0000058494" "00025678" "10" "368" "-30" "368" "-30" "c.368-30A>G" "r.(=)" "p.(=)" "3i" "0000058495" "00025678" "10" "368" "-25" "368" "-25" "c.368-25A>C" "r.(=)" "p.(=)" "3i" "0000058496" "00025678" "10" "368" "-8" "368" "-8" "c.368-8T>G" "r.(=)" "p.(=)" "3i" "0000058497" "00025678" "10" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(Gly126=)" "4" "0000058498" "00025678" "10" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128Gln)" "4" "0000058499" "00025678" "10" "413" "-50" "413" "-50" "c.413-50A>G" "r.(=)" "p.(=)" "4i" "0000058500" "00025678" "10" "413" "-6" "413" "-6" "c.413-6C>A" "r.(=)" "p.(=)" "4i" "0000058501" "00025678" "10" "420" "100" "420" "100" "c.420+100A>G" "r.(=)" "p.(=)" "5i" "0000058502" "00025678" "10" "438" "57" "438" "57" "c.438+57G>A" "r.(=)" "p.(=)" "6i" "0000058503" "00025678" "10" "439" "-4" "439" "-4" "c.439-4T>C" "r.(=)" "p.(=)" "6i" "0000058504" "00025678" "10" "493" "-45" "493" "-45" "c.493-45C>T" "r.(=)" "p.(=)" "8i" "0000058505" "00025678" "10" "565" "-83" "565" "-83" "c.565-83A>G" "r.(=)" "p.(=)" "9i" "0000058506" "00025678" "10" "976" "-14" "976" "-14" "c.976-14A>G" "r.(=)" "p.(=)" "10i" "0000058507" "00025678" "10" "1242" "79" "1242" "79" "c.1242+79A>G" "r.(=)" "p.(=)" "23i" "0000058508" "00025678" "10" "1243" "-32" "1243" "-32" "c.1243-32C>A" "r.(=)" "p.(=)" "23i" "0000058509" "00025678" "10" "1389" "52" "1389" "52" "c.1389+52C>T" "r.(=)" "p.(=)" "26i" "0000058510" "00025678" "10" "1434" "16" "1434" "16" "c.1434+16G>A" "r.(=)" "p.(=)" "27i" "0000058511" "00025678" "10" "1434" "71" "1434" "71" "c.1434+71G>A" "r.(=)" "p.(=)" "27i" "0000058512" "00025678" "10" "1434" "83" "1434" "83" "c.1434+83T>C" "r.(=)" "p.(=)" "27i" "0000058513" "00025678" "10" "1578" "55" "1578" "55" "c.1578+55A>C" "r.(=)" "p.(=)" "29i" "0000058514" "00025678" "10" "1630" "-41" "1630" "-41" "c.1630-41G>T" "r.(=)" "p.(=)" "30i" "0000058515" "00025678" "10" "1764" "64" "1764" "64" "c.1764+64G>A" "r.(=)" "p.(=)" "33i" "0000058516" "00025678" "10" "1923" "18" "1923" "18" "c.1923+18C>G" "r.(?)" "p.(=)" "36i" "0000058517" "00025678" "10" "1963" "-48" "1963" "-48" "c.1963-48A>G" "r.(?)" "p.(=)" "37i" "0000058518" "00025678" "10" "1963" "-61" "1963" "-61" "c.1963-61A>C" "r.(?)" "p.(=)" "37i" "0000058519" "00025678" "10" "726" "0" "726" "0" "c.726G>A" "r.(?)" "p.(Pro242=)" "12" "0000058520" "00025678" "10" "1839" "0" "1839" "0" "c.1839A>C" "r.(?)" "p.(Gly613=)" "35" "0000273956" "00025678" "30" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Lys130=)" "" "0000273957" "00025678" "30" "9" "0" "9" "0" "c.9G>C" "r.(?)" "p.(Leu3=)" "" "0000330071" "00025678" "50" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(Tyr102Cys)" "" "0000330072" "00025678" "50" "35" "0" "35" "0" "c.35G>T" "r.(?)" "p.(Gly12Val)" "" "0000342277" "00025678" "30" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218His)" "" "0000677148" "00025678" "30" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Ala380=)" "" "0000719688" "00025678" "30" "412" "9" "412" "9" "c.412+9C>T" "r.(=)" "p.(=)" "" "0000719689" "00025678" "50" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(Tyr102Cys)" "" "0000801446" "00025678" "50" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Pro295Leu)" "" "0000801447" "00025678" "30" "672" "8" "672" "8" "c.672+8G>A" "r.(=)" "p.(=)" "" "0000801448" "00025678" "50" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "" "0000832803" "00025678" "90" "1450" "0" "1450" "0" "c.1450A>G" "r.(?)" "p.(Lys484Glu)" "" "0000832804" "00025678" "90" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Gly400Arg)" "" "0000832805" "00025678" "50" "672" "1" "672" "1" "c.672+1del" "r.spl" "p.?" "" "0000832806" "00025678" "90" "672" "1" "672" "1" "c.672+1G>A" "r.spl" "p.?" "" "0000850476" "00025678" "50" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Cys)" "" "0000850477" "00025678" "50" "696" "0" "696" "0" "c.696A>C" "r.(?)" "p.(Glu232Asp)" "" "0000859204" "00025678" "50" "1570" "0" "1570" "0" "c.1570G>C" "r.(?)" "p.(Gly524Arg)" "" "0000868170" "00025678" "70" "368" "-57745" "368" "-57745" "c.368-57745A>G" "r.(=)" "p.(=)" "" "0000976061" "00025678" "50" "1099" "0" "1099" "0" "c.1099G>A" "r.(?)" "p.(Ala367Thr)" "" "0001012735" "00025678" "90" "1730" "0" "1730" "0" "c.1730G>A" "r.(1730g>a)" "p.(Gly577Glu)" "" "0001012736" "00025678" "90" "1730" "0" "1730" "0" "c.1730G>A" "r.(1730g>a)" "p.(Gly577Glu)" "" "0001012806" "00025678" "90" "367" "0" "367" "0" "c.367G>C" "r.(300_367del)" "p.(Ser101Profs*7)" "3" "0001012807" "00025678" "90" "1198" "0" "1198" "0" "c.1198G>T" "r.(1198g>u)" "p.(Gly400Trp)" "23" "0001012808" "00025678" "90" "-30358" "0" "367" "38451" "c.(?_-30358)_(367+38451_?)del" "r.0?" "p.0?" "" "0001012809" "00025678" "90" "1598" "0" "1598" "0" "c.1598del" "r.(1598del)" "p.(Pro533Hisfs*77)" "" "0001012923" "00025678" "90" "1711" "-1942" "116984" "0" "c.(?_1711-1942)_(*115019_?)del" "r.?" "p.?" "" "0001012924" "00025678" "90" "382" "0" "382" "0" "c.382C>T" "r.(382c>u)" "p.(Arg128*)" "" "0001034253" "00025678" "50" "1669" "0" "1669" "0" "c.1669C>T" "r.(?)" "p.(Pro557Ser)" "" "0001034254" "00025678" "50" "1273" "0" "1273" "0" "c.1273G>A" "r.(?)" "p.(Ala425Thr)" "" "0001034255" "00025678" "50" "1198" "-9" "1198" "-9" "c.1198-9C>T" "r.(=)" "p.(=)" "" "0001034256" "00025678" "50" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Pro337Leu)" "" "0001034257" "00025678" "50" "806" "0" "808" "0" "c.806_808del" "r.(?)" "p.(Val269del)" "" "0001034258" "00025678" "50" "290" "0" "290" "0" "c.290T>A" "r.(?)" "p.(Leu97Gln)" "" "0001034259" "00025678" "50" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Leu96Phe)" "" "0001051809" "00025678" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ser48Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000032399" "0000058481" "0000032400" "0000058482" "0000032400" "0000058483" "0000400052" "0000832803" "0000400053" "0000832804" "0000400054" "0000832805" "0000400054" "0000832806" "0000411138" "0000868170" "0000458126" "0001012735" "0000458127" "0001012736" "0000458176" "0001012806" "0000458176" "0001012807" "0000458177" "0001012808" "0000458178" "0001012809" "0000458179" "0001012923" "0000458289" "0001012924"