### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BLOC1S1) # 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}}" "BLOC1S1" "biogenesis of lysosomal organelles complex-1, subunit 1" "12" "q13-q14" "unknown" "NC_000012.11" "UD_136085795838" "" "https://www.LOVD.nl/BLOC1S1" "" "1" "4200" "2647" "601444" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/BLOC1S1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-04-03 17:11:04" "00006" "2026-04-03 18:19:40" ## 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}}" "00003412" "BLOC1S1" "transcript variant 1" "001" "NM_001487.3" "" "NP_001478.2" "" "" "" "-18" "560" "462" "56109818" "56113491" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BLOC1S1" "00198" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00475197" "" "" "" "1" "" "00006" "{PMID:De Pace 2026:41887224}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "Europe-N" "FamIPat1" "00475198" "" "" "" "2" "" "00006" "{PMID:De Pace 2026:41887224}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Middle-East" "FamIIPat1" "00475199" "" "" "00475198" "1" "" "00006" "{PMID:De Pace 2026:41887224}" "sister" "F" "yes" "" "" "0" "" "" "Middle-East" "FamIIPat2" "00475200" "" "" "" "1" "" "00006" "{PMID:De Pace 2026:41887224}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Europe-S" "FamIIIPat1" "00475201" "" "" "" "3" "" "00006" "{PMID:De Pace 2026:41887224}" "2-generation family, 3 affected (deceased 2 brothers/sister,) unaffected heterozygous carrier parents" "F" "yes" "" "5m" "0" "" "" "Asia-W" "FamIVPat1" "00475202" "" "" "" "2" "" "00006" "{PMID:De Pace 2026:41887224}" "2-generation family, 2 affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "Middle-East" "FamVPat1" "00475203" "" "" "00475202" "1" "" "00006" "{PMID:De Pace 2026:41887224}" "brother" "M" "yes" "" "" "0" "" "" "Middle-East" "FamVPat2" "00475204" "" "" "" "1" "" "00006" "{PMID:De Pace 2026:41887224}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "Middle-East" "FamVIPat1" "00475205" "" "" "" "3" "" "00006" "{PMID:De Pace 2026:41887224}" "2-generation family, 3 affected (sister/twin fetuses), unaffected heterozygous carrier parents" "F" "yes" "" "1d" "0" "" "" "Asia-W" "FamVIIPat1" "00475206" "" "" "00475205" "1" "" "00006" "{PMID:De Pace 2026:41887224}" "fetus" "" "yes" "" "<0d" "0" "" "" "Asia-W" "FamVIIPat2a" "00475207" "" "" "00475205" "1" "" "00006" "{PMID:De Pace 2026:41887224}" "fetus" "" "yes" "" "<0d" "0" "" "" "Asia-W" "FamVIIPat2b" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00475197" "00198" "00475198" "00198" "00475199" "00198" "00475200" "00198" "00475201" "00198" "00475202" "00198" "00475203" "00198" "00475204" "00198" "00475205" "00198" "00475206" "00198" "00475207" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 11 "{{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}}" "0000359911" "00198" "00475197" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., birth uncomplicated; failure to thrive; 1y-feeding difficulties; 6m-developmental delay; 1y-regression; profound intellectual disability; motor function head control, floor mobility; fine motor function batting/reaching; communication vocalization; 1y-single words; 22m-seizures; spasticity; axial hypotonia; no dystonia; no opisthotonos; spastic tetraparesis; no myoclonus; no limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; no peripheral neuropathy; no bone dysplasia; hip dislocation; scoliosis; no autonomic issues; no irritability; no skin abnormalities; hypopigmentation (fairer than family); no ocular albinism; no unexplained rashes; no gastroesophageal reflux disease; swallowing difficulties; feeding tube; liver dysfunction increased transaminases; no inflammatory bowel disease; anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; no respiratory failure; no pulmonary fibrosis; cortical visual impairment; no nystagmus; strabismus; no retinal anomalies; optic atrophy; dysmorphic facial features; teeth excessive cavities; no hearing impairment; no immunological issues, no allergy, no recurrent infections; no kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth" "1y" "" "" "" "" "" "" "" "" "hypomyelinating leukodystrophy, epileptic encephalopathy" "" "0000359912" "00198" "00475198" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., birth uncomplicated; failure to thrive; no regression; severe intellectual disability; motor function head control, floor mobility; fine motor function batting/reaching; communication vocalization; seizures; spasticity; axial hypotonia; no dystonia; no opisthotonos; spastic tetraparesis; no myoclonus; limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; stable movement disorder; no bone dysplasia; hip dislocation; no scoliosis; no autonomic issues; no irritability; no skin abnormalities; no hypopigmentation; no ocular albinism; no unexplained rashes; gastroesophageal reflux disease; swallowing difficulties; no feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no respiratory failure; cortical visual impairment; nystagmus; strabismus; no retinal anomalies; optic atrophy; no dysmorphic facial features; no hearing impairment; no immunological issues, no allergy, no recurrent infections; no kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth" "2m" "" "" "" "" "" "" "" "" "hypomyelinating leukodystrophy, epileptic encephalopathy" "" "0000359913" "00198" "00475199" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., birth uncomplicated; no failure to thrive; 1y-developmental delay; no regression; moderate intellectual disability; motor function independent walking; fine motor function pincer grasp; communication single words; 4y-seizures; spasticity; axial hypotonia; no dystonia; no opisthotonos; no spastic tetraparesis; no myoclonus; no limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; stable movement disorder; gait/truncal ataxia; no bone dysplasia; no hip dislocation; no scoliosis; no autonomic issues; irritability; acanthosis nigricans; no hypopigmentation; no ocular albinism; no unexplained rashes; gastroesophageal reflux disease; no swallowing difficulties; no feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no respiratory failure; no pulmonary fibrosis; no cortical visual impairment; nystagmus; strabismus; no retinal anomalies; optic atrophy; no dysmorphic facial features; no hearing impairment; no immunological issues, no allergy, no recurrent infections; no kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth" "1y" "" "" "" "" "" "" "" "" "hypomyelinating leukodystrophy, epileptic encephalopathy" "" "0000359914" "00198" "00475200" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., birth uncomplicated; failure to thrive; 1m-feeding difficulties; no regression; profound intellectual disability; motor function head control, floor mobility, independent sitting; no fine motor function; no communication; 2y-seizures; spasticity; no axial hypotonia; dystonia hands/feet; opisthotonos; spastic tetraparesis; no myoclonus; limb contractures; no Parkinsonism; no chorea; no tremor; dyskinetic movements; stable movement disorder; no peripheral neuropathy; no bone dysplasia; hip dislocation; scoliosis; no autonomic issues; irritability; no skin abnormalities; no hypopigmentation; mild ocular albinism; no unexplained rashes; gastroesophageal reflux disease; swallowing difficulties; feeding tube; liver dysfunction increased transaminases; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; no respiratory failure; no pulmonary fibrosis; cortical visual impairment; nystagmus; strabismus; albinotic optic disc, arteriolar narrowing; optic atrophy; dysmorphic facial features; teeth enamel hypoplasia, excessive cavities, gingivitis; no hearing impairment; pneumonia; no kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth" "1m" "" "" "" "" "" "" "" "" "hypomyelinating leukodystrophy, epileptic encephalopathy" "" "0000359915" "00198" "00475201" "00006" "Familial, autosomal recessive" "5m" "see paper; ..., 5m-deceased; birth respiratory distress, pneumonia; failure to thrive; 1d-feeding difficulties; regression; no motor function; no fine motor function; no communication; no seizures; no spasticity; axial hypotonia; no dystonia; no opisthotonos; no spastic tetraparesis; no myoclonus; no limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; stable movement disorder; no peripheral neuropathy; no bone dysplasia; no hip dislocation; no scoliosis; no autonomic issues; no irritability; no skin abnormalities; no hypopigmentation; no ocular albinism; no unexplained rashes; no gastroesophageal reflux disease; swallowing difficulties; feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; respiratory failure; no cortical visual impairment; no nystagmus; no strabismus; no dental complications; no hearing impairment; kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth" "1d" "" "" "" "" "" "" "" "" "hypomyelinating leukodystrophy, epileptic encephalopathy" "" "0000359916" "00198" "00475202" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., birth uncomplicated; failure to thrive; 7m-feeding difficulties; 11m-developmental delay; no regression; severe intellectual disability; motor function independent walking; 1y-sit, 36m-walk; fine motor function pincer grasp; communication single words; 6y-single words; 1y-seizures; spasticity; no axial hypotonia; no dystonia; no opisthotonos; spastic tetraparesis; myoclonus; no limb contractures; Parkinsonism; no chorea; no tremor; dyskinetic movements; gradual improvement movement disorder; no gait/truncal ataxia; no peripheral neuropathy; no bone dysplasia; no hip dislocation; no scoliosis; no autonomic issues; no irritability; no skin abnormalities; no hypopigmentation; no ocular albinism; no unexplained rashes; no gastroesophageal reflux disease; dysphagia (eating quickly); no feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; no respiratory failure; no pulmonary fibrosis; no cortical visual impairment; no nystagmus; strabismus; no retinal anomalies; no optic atrophy; dysmorphic facial features; no dental complications; no hearing impairment; infant recurrent respiratory infections; no kidney disease; no endocrine disorders; long fingers, normal hair, normal nails, normal teeth" "4m" "" "" "" "" "" "" "" "" "hypomyelinating leukodystrophy, epileptic encephalopathy" "" "0000359917" "00198" "00475203" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., birth uncomplicated; failure to thrive; 9m-feeding difficulties; 10m-developmental delay; no regression; severe intellectual disability; motor function independent walking; 14m-sit, 36m-walk; fine motor function pincer grasp; communication single words; 5y-single words; no seizures; spasticity; no axial hypotonia; no dystonia; no opisthotonos; spastic tetraparesis; no myoclonus; no limb contractures; Parkinsonism; no chorea; no tremor; dyskinetic movements; gradual improvement movement disorder; no gait/truncal ataxia; no peripheral neuropathy; no bone dysplasia; no hip dislocation; no scoliosis; no autonomic issues; no irritability; no skin abnormalities; no hypopigmentation; mild ocular albinism; no unexplained rashes; no gastroesophageal reflux disease; no swallowing difficulties; no feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; no respiratory failure; no pulmonary fibrosis; no cortical visual impairment; no nystagmus; no strabismus; albinotic optic disc, depigmented fundus; optic atrophy; dysmorphic facial features; no dental complications; no hearing impairment; infant recurrent respiratory infections; no kidney disease; no endocrine disorders; long fingers, normal hair, normal nails, normal teeth" "4m" "" "" "" "" "" "" "" "" "hypomyelinating leukodystrophy, epileptic encephalopathy" "" "0000359918" "00198" "00475204" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., birth uncomplicated; no failure to thrive; profound intellectual disability; no motor function; fine motor function reaching/grasp; no communication; no seizures; no spasticity; axial hypotonia; no dystonia; no opisthotonos; no spastic tetraparesis; no myoclonus; no limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; stable movement disorder; peripheral neuropathy; no bone dysplasia; no hip dislocation; no scoliosis; no autonomic issues; no irritability; no skin abnormalities; no hypopigmentation; no ocular albinism; no unexplained rashes; no gastroesophageal reflux disease; no swallowing difficulties; no feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; no respiratory failure; no pulmonary fibrosis; cortical visual impairment; no nystagmus; no strabismus; no retinal anomalies; optic atrophy; no dysmorphic facial features; bilateral moderate hearing loss; no immunological issues, no allergy, no recurrent infections; no kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth" "6m" "" "" "" "" "" "" "" "" "hypomyelinating leukodystrophy, epileptic encephalopathy" "" "0000359919" "00198" "00475205" "00006" "Familial, autosomal recessive" "" "see paper; ..., 1d-deceased; birth respiratory distress, intubation, cardiac arrest; failure to thrive; 1d-feeding difficulties; no spasticity; axial hypotonia; no dystonia; no opisthotonos; no spastic tetraparesis; no myoclonus; limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; known bone dysplasia; no hip dislocation; no scoliosis; no autonomic issues; no irritability; no skin abnormalities; hypopigmentation; no ocular albinism; no unexplained rashes; swallowing difficulties; no feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; cardiovascular issues; respiratory failure; no pulmonary fibrosis; ?; no nystagmus; no strabismus; no retinal anomalies; no optic atrophy; dysmorphic facial features; no kidney disease; endocrine disorders" "1d" "" "" "" "" "" "" "" "" "hypomyelinating leukodystrophy, epileptic encephalopathy" "" "0000359920" "00198" "00475206" "00006" "Familial, autosomal recessive" "" "see paper; ..., terminated pregnancy" "<0d" "" "" "" "" "" "" "" "" "hypomyelinating leukodystrophy, epileptic encephalopathy" "" "0000359921" "00198" "00475207" "00006" "Familial, autosomal recessive" "" "see paper; ..., terminated pregnancy" "<0d" "" "" "" "" "" "" "" "" "hypomyelinating leukodystrophy, epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000476880" "00475197" "1" "00006" "00006" "2026-04-03 18:19:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476881" "00475198" "1" "00006" "00006" "2026-04-03 18:19:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476882" "00475199" "1" "00006" "00006" "2026-04-03 18:19:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476883" "00475200" "1" "00006" "00006" "2026-04-03 18:19:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476884" "00475201" "1" "00006" "00006" "2026-04-03 18:19:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476885" "00475202" "1" "00006" "00006" "2026-04-03 18:19:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476886" "00475203" "1" "00006" "00006" "2026-04-03 18:19:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476887" "00475204" "1" "00006" "00006" "2026-04-03 18:19:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476888" "00475205" "1" "00006" "00006" "2026-04-03 18:19:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476889" "00475206" "1" "00006" "00006" "2026-04-03 18:19:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476890" "00475207" "1" "00006" "00006" "2026-04-03 18:19:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 119 "{{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}}" "0000247164" "0" "30" "12" "56115065" "56115065" "subst" "0.00270851" "02330" "RDH5_000206" "g.56115065A>G" "" "" "" "RDH5(NM_001199771.3):c.97A>G (p.I33V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55721281A>G" "" "likely benign" "" "0000249174" "0" "10" "12" "56091617" "56091617" "subst" "0.622355" "02325" "ITGA7_000053" "g.56091617A>G" "" "" "" "ITGA7(NM_001144996.2):c.1294-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55697833A>G" "" "benign" "" "0000252215" "0" "30" "12" "56081971" "56081971" "subst" "6.09093E-5" "02326" "ITGA7_000043" "g.56081971A>G" "" "" "" "ITGA7(NM_001144996.2):c.3069+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55688187A>G" "" "likely benign" "" "0000254847" "0" "30" "12" "56115528" "56115528" "subst" "0.000312225" "01943" "RDH5_000207" "g.56115528A>G" "" "" "" "RDH5(NM_001199771.1):c.366A>G (p.P122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55721744A>G" "" "likely benign" "" "0000281579" "0" "10" "12" "56089357" "56089357" "subst" "0.592568" "02325" "ITGA7_000048" "g.56089357C>T" "" "" "" "ITGA7(NM_001144996.2):c.1964G>A (p.R655H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55695573C>T" "" "benign" "" "0000281580" "0" "10" "12" "56088773" "56088773" "subst" "0.592426" "02325" "ITGA7_000046" "g.56088773C>T" "" "" "" "ITGA7(NM_001144996.2):c.2016-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55694989C>T" "" "benign" "" "0000281581" "0" "10" "12" "56079084" "56079084" "subst" "0.591458" "02325" "ITGA7_000042" "g.56079084C>G" "" "" "" "ITGA7(NM_001144996.2):c.3196-12G>C, ITGA7(NM_002206.3):c.3184-12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55685300C>G" "" "benign" "" "0000281582" "0" "10" "12" "56096816" "56096816" "subst" "0.596754" "02325" "ITGA7_000060" "g.56096816T>C" "" "" "" "ITGA7(NM_001144996.2):c.334+19A>G, ITGA7(NM_002206.3):c.334+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55703032T>C" "" "benign" "" "0000285389" "0" "10" "12" "56091709" "56091709" "subst" "0.00159987" "02326" "ITGA7_000054" "g.56091709C>T" "" "" "" "ITGA7(NM_001144996.2):c.1293+13G>A, ITGA7(NM_002206.2):c.1281+13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55697925C>T" "" "benign" "" "0000285390" "0" "30" "12" "56087068" "56087068" "subst" "0.00209946" "02326" "ITGA7_000044" "g.56087068C>T" "" "" "" "ITGA7(NM_001144996.1):c.2581G>A (p.(Gly861Ser)), ITGA7(NM_001144996.2):c.2581G>A (p.G861S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55693284C>T" "" "likely benign" "" "0000285391" "0" "10" "12" "56105894" "56105894" "subst" "0.00854718" "02326" "ITGA7_000063" "g.56105894G>A" "" "" "" "ITGA7(NM_001144996.1):c.-4428C>T (p.(=)), ITGA7(NM_001144997.1):c.38C>T (p.T13I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55712110G>A" "" "benign" "" "0000294782" "0" "10" "12" "56115030" "56115030" "subst" "8.95736E-5" "02330" "RDH5_000205" "g.56115030G>A" "" "" "" "RDH5(NM_001199771.3):c.62G>A (p.R21Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55721246G>A" "" "benign" "" "0000306899" "0" "30" "12" "56114999" "56114999" "subst" "5.70014E-5" "01943" "RDH5_000204" "g.56114999C>T" "" "" "" "RDH5(NM_001199771.1):c.31C>T (p.L11F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55721215C>T" "" "likely benign" "" "0000306900" "0" "50" "12" "56115626" "56115626" "subst" "6.13663E-5" "01943" "RDH5_000208" "g.56115626G>A" "" "" "" "RDH5(NM_001199771.1):c.464G>A (p.R155Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55721842G>A" "" "VUS" "" "0000306901" "0" "30" "12" "56117700" "56117700" "subst" "1.62561E-5" "01943" "RDH5_000209" "g.56117700C>A" "" "" "" "RDH5(NM_001199771.1):c.600C>A (p.V200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55723916C>A" "" "likely benign" "" "0000306902" "0" "30" "12" "56118124" "56118124" "subst" "2.03044E-5" "01943" "RDH5_000210" "g.56118124G>A" "" "" "" "RDH5(NM_001199771.1):c.752G>A (p.R251H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55724340G>A" "" "likely benign" "" "0000322898" "0" "30" "12" "56088723" "56088723" "subst" "0.000196925" "01804" "ITGA7_000045" "g.56088723G>T" "" "" "" "ITGA7(NM_001144996.1):c.2047C>A (p.(Leu683Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55694939G>T" "" "likely benign" "" "0000322899" "0" "30" "12" "56089344" "56089344" "subst" "0.0162934" "01804" "ITGA7_000047" "g.56089344A>G" "" "" "" "ITGA7(NM_001144996.1):c.1977T>C (p.(Cys659=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55695560A>G" "" "likely benign" "" "0000322900" "0" "50" "12" "56090189" "56090189" "subst" "0.000362457" "01804" "ITGA7_000049" "g.56090189T>G" "" "" "" "ITGA7(NM_001144996.1):c.1777A>C (p.(Ile593Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55696405T>G" "" "VUS" "" "0000322901" "0" "50" "12" "56090810" "56090810" "subst" "8.13286E-6" "01804" "ITGA7_000050" "g.56090810C>T" "" "" "" "ITGA7(NM_001144996.1):c.1622G>A (p.(Arg541Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55697026C>T" "" "VUS" "" "0000322902" "0" "30" "12" "56090811" "56090811" "subst" "0.0015004" "01804" "ITGA7_000051" "g.56090811G>A" "" "" "" "ITGA7(NM_001144996.1):c.1621C>T (p.(Arg541Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55697027G>A" "" "likely benign" "" "0000322905" "0" "30" "12" "56092610" "56092610" "subst" "0.00138575" "01804" "ITGA7_000056" "g.56092610C>T" "" "" "" "ITGA7(NM_001144996.1):c.894G>A (p.(Val298=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55698826C>T" "" "likely benign" "" "0000322906" "0" "30" "12" "56092668" "56092668" "subst" "0.0329251" "01804" "ITGA7_000057" "g.56092668C>T" "" "" "" "ITGA7(NM_001144996.1):c.836G>A (p.(Arg279His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55698884C>T" "" "likely benign" "" "0000322908" "0" "30" "12" "56094816" "56094816" "subst" "0.000779657" "01804" "ITGA7_000059" "g.56094816C>T" "" "" "" "ITGA7(NM_001144996.1):c.537G>A (p.(Gly179=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55701032C>T" "" "likely benign" "" "0000322909" "0" "30" "12" "56096884" "56096884" "subst" "0.0185972" "01804" "ITGA7_000061" "g.56096884C>A" "" "" "" "ITGA7(NM_001144996.1):c.285G>T (p.(Pro95=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55703100C>A" "" "likely benign" "" "0000340244" "0" "10" "12" "56115585" "56115585" "subst" "0.19137" "02327" "RDH5_000211" "g.56115585C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55721801C>T" "" "benign" "" "0000548651" "0" "30" "12" "56082025" "56082025" "subst" "0.0408558" "01804" "ITGA7_000013" "g.56082025G>C" "" "" "" "ITGA7(NM_001144996.1):c.3030C>G (p.(Ser1010=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55688241G>C" "" "likely benign" "" "0000548652" "0" "30" "12" "56082612" "56082612" "subst" "0.000593067" "01804" "ITGA7_000086" "g.56082612C>T" "" "" "" "ITGA7(NM_001144996.1):c.2970+16G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55688828C>T" "" "likely benign" "" "0000548653" "0" "50" "12" "56082681" "56082681" "subst" "3.65497E-5" "01943" "ITGA7_000087" "g.56082681G>A" "" "" "" "ITGA7(NM_001144996.1):c.2917C>T (p.R973C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55688897G>A" "" "VUS" "" "0000548654" "0" "30" "12" "56086993" "56086993" "subst" "0.0042397" "01804" "ITGA7_000007" "g.56086993C>T" "" "" "" "ITGA7(NM_001144996.1):c.2656G>A (p.E886K, p.(Glu886Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55693209C>T" "" "likely benign" "" "0000548655" "0" "30" "12" "56087912" "56087912" "subst" "0.0072727" "01804" "ITGA7_000036" "g.56087912C>T" "" "" "" "ITGA7(NM_001144996.1):c.2445-5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55694128C>T" "" "likely benign" "" "0000548656" "0" "90" "12" "56088226" "56088226" "subst" "2.84287E-5" "02327" "ITGA7_000095" "g.56088226C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55694442C>T" "" "pathogenic" "" "0000548657" "0" "90" "12" "56088307" "56088307" "subst" "0" "02327" "ITGA7_000096" "g.56088307C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55694523C>T" "" "pathogenic" "" "0000548658" "0" "30" "12" "56090168" "56090168" "subst" "0" "01804" "ITGA7_000100" "g.56090168T>C" "" "" "" "ITGA7(NM_001144996.1):c.1798A>G (p.(Ser600Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55696384T>C" "" "likely benign" "" "0000548659" "0" "50" "12" "56090795" "56090795" "subst" "2.84458E-5" "01943" "ITGA7_000103" "g.56090795C>T" "" "" "" "ITGA7(NM_001144996.1):c.1637G>A (p.R546H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55697011C>T" "" "VUS" "" "0000548661" "0" "30" "12" "56090984" "56090984" "subst" "0.000265875" "01804" "ITGA7_000029" "g.56090984G>C" "" "" "" "ITGA7(NM_001144996.1):c.1579+16C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55697200G>C" "" "likely benign" "" "0000548663" "0" "30" "12" "56091571" "56091571" "subst" "0.000194937" "01943" "ITGA7_000027" "g.56091571G>A" "" "" "" "ITGA7(NM_001144996.1):c.1329C>T (p.F443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55697787G>A" "" "likely benign" "" "0000548664" "0" "30" "12" "56091594" "56091594" "subst" "0" "01804" "ITGA7_000105" "g.56091594C>T" "" "" "" "ITGA7(NM_001144996.1):c.1306G>A (p.(Glu436Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55697810C>T" "" "likely benign" "" "0000548665" "0" "30" "12" "56094139" "56094139" "subst" "0" "01804" "ITGA7_000113" "g.56094139C>A" "" "" "" "ITGA7(NM_001144996.1):c.709G>T (p.(Asp237Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55700355C>A" "" "likely benign" "" "0000548666" "0" "30" "12" "56096858" "56096858" "subst" "4.06716E-6" "01943" "ITGA7_000120" "g.56096858T>A" "" "" "" "ITGA7(NM_001144996.1):c.311A>T (p.Y104F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55703074T>A" "" "likely benign" "" "0000548667" "0" "30" "12" "56105894" "56105894" "subst" "0.00854718" "01804" "ITGA7_000017" "g.56105894G>A" "" "" "" "ITGA7(NM_001144996.1):c.-4428C>T (p.(=)), ITGA7(NM_001144997.1):c.38C>T (p.T13I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55712110G>A" "" "likely benign" "" "0000548668" "0" "30" "12" "56105932" "56105932" "subst" "0.0151783" "01804" "ITGA7_000127" "g.56105932A>C" "" "" "" "ITGA7(NM_001144997.1):c.14-14T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55712148A>C" "" "likely benign" "" "0000548669" "0" "10" "12" "56115687" "56115687" "subst" "0.000267765" "02330" "RDH5_000233" "g.56115687C>T" "" "" "" "RDH5(NM_001199771.1):c.525C>T (p.Y175=), RDH5(NM_001199771.3):c.525C>T (p.Y175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55721903C>T" "" "benign" "" "0000548670" "0" "10" "12" "56117652" "56117652" "subst" "0.000803121" "02330" "RDH5_000235" "g.56117652G>A" "" "" "" "RDH5(NM_001199771.3):c.570-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55723868G>A" "" "benign" "" "0000548671" "0" "90" "12" "56117812" "56117812" "subst" "0.000214612" "01943" "RDH5_000004" "g.56117812G>T" "" "" "" "RDH5(NM_001199771.1):c.712G>T (p.G238W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55724028G>T" "" "pathogenic" "" "0000614305" "0" "30" "12" "56087068" "56087068" "subst" "0.00209946" "02325" "ITGA7_000044" "g.56087068C>T" "" "" "" "ITGA7(NM_001144996.1):c.2581G>A (p.(Gly861Ser)), ITGA7(NM_001144996.2):c.2581G>A (p.G861S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55693284C>T" "" "likely benign" "" "0000679594" "0" "30" "12" "56086993" "56086993" "subst" "0.0042397" "01943" "ITGA7_000007" "g.56086993C>T" "" "" "" "ITGA7(NM_001144996.1):c.2656G>A (p.E886K, p.(Glu886Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691387" "0" "30" "12" "56091335" "56091335" "del" "0" "01943" "ITGA7_000052" "g.56091335del" "" "" "" "ITGA7(NM_001144996.1):c.1422-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691388" "0" "50" "12" "56094926" "56094926" "subst" "4.88102E-5" "01943" "ITGA7_000116" "g.56094926G>A" "" "" "" "ITGA7(NM_001144996.1):c.427C>T (p.R143*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691389" "0" "50" "12" "56115021" "56115021" "subst" "0" "01943" "RDH5_000232" "g.56115021T>C" "" "" "" "RDH5(NM_001199771.1):c.53T>C (p.L18P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724141" "0" "30" "12" "56088073" "56088073" "subst" "9.35073E-5" "01943" "ITGA7_000093" "g.56088073C>T" "" "" "" "ITGA7(NM_001144996.1):c.2411G>A (p.R804H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724142" "0" "30" "12" "56088217" "56088217" "subst" "0" "01943" "ITGA7_000094" "g.56088217C>T" "" "" "" "ITGA7(NM_001144996.1):c.2369+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724143" "0" "30" "12" "56090761" "56090761" "subst" "0.00139327" "02326" "ITGA7_000101" "g.56090761G>C" "" "" "" "ITGA7(NM_001144996.2):c.1671C>G (p.P557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724144" "0" "30" "12" "56093773" "56093773" "subst" "5.28438E-5" "01943" "ITGA7_000110" "g.56093773C>G" "" "" "" "ITGA7(NM_002206.2):c.671G>C (p.G224A), ITGA7(NM_002206.3):c.671G>C (p.(Gly224Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724145" "0" "50" "12" "56101259" "56101259" "subst" "0" "02329" "ITGA7_000062" "g.56101259A>T" "" "" "" "ITGA7(NM_001144996.2):c.206+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805845" "0" "10" "12" "56092364" "56092364" "subst" "0.00220948" "02326" "ITGA7_000109" "g.56092364T>C" "" "" "" "ITGA7(NM_002206.3):c.999-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805846" "0" "10" "12" "56117662" "56117662" "subst" "0.00168529" "02330" "RDH5_000236" "g.56117662G>C" "" "" "" "RDH5(NM_002905.5):c.570-8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805847" "0" "50" "12" "56118322" "56118322" "subst" "0" "01943" "RDH5_000237" "g.56118322T>C" "" "" "" "RDH5(NM_001199771.1):c.950T>C (p.V317A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863060" "0" "30" "12" "56078872" "56078872" "subst" "0.00428767" "01804" "ITGA7_000075" "g.56078872G>A" "" "" "" "ITGA7(NM_001144996.1):c.3396C>T (p.(Pro1132=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863061" "0" "70" "12" "56082003" "56082003" "subst" "4.06075E-5" "01804" "ITGA7_000083" "g.56082003G>A" "" "" "" "ITGA7(NM_001144996.1):c.3052C>T (p.(Arg1018Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863062" "0" "30" "12" "56082012" "56082012" "subst" "0.00345158" "01804" "ITGA7_000084" "g.56082012A>G" "" "" "" "ITGA7(NM_001144996.1):c.3043T>C (p.(Leu1015=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863063" "0" "70" "12" "56082682" "56082682" "dup" "0" "01804" "ITGA7_000088" "g.56082682dup" "" "" "" "ITGA7(NM_002206.2):c.2905dup (p.(Arg969ProfsTer153))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863064" "0" "30" "12" "56087068" "56087068" "subst" "0.00209946" "01804" "ITGA7_000044" "g.56087068C>T" "" "" "" "ITGA7(NM_001144996.1):c.2581G>A (p.(Gly861Ser)), ITGA7(NM_001144996.2):c.2581G>A (p.G861S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863065" "0" "90" "12" "56087868" "56087868" "del" "0" "01943" "ITGA7_000090" "g.56087868del" "" "" "" "ITGA7(NM_001144996.1):c.2484delG (p.R829Gfs*167)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863066" "0" "90" "12" "56087869" "56087869" "subst" "0" "01943" "ITGA7_000091" "g.56087869A>G" "" "" "" "ITGA7(NM_001144996.1):c.2483T>C (p.V828A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863067" "0" "50" "12" "56087870" "56087870" "subst" "2.84393E-5" "01804" "ITGA7_000092" "g.56087870C>A" "" "" "" "ITGA7(NM_001144996.1):c.2482G>T (p.(Val828Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863068" "0" "30" "12" "56091075" "56091075" "subst" "0.000680766" "01804" "ITGA7_000104" "g.56091075G>A" "" "" "" "ITGA7(NM_001144996.1):c.1518-14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863069" "0" "30" "12" "56115687" "56115687" "subst" "0.000267765" "01943" "RDH5_000233" "g.56115687C>T" "" "" "" "RDH5(NM_001199771.1):c.525C>T (p.Y175=), RDH5(NM_001199771.3):c.525C>T (p.Y175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863070" "0" "50" "12" "56115707" "56115707" "subst" "0" "02330" "RDH5_000234" "g.56115707T>C" "" "" "" "RDH5(NM_002905.5):c.545T>C (p.L182P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890695" "0" "70" "12" "56101438" "56101438" "dup" "0" "01804" "ITGA7_000126" "g.56101438dup" "" "" "" "ITGA7(NM_001144996.1):c.34dup (p.(Ala12Glyfs*91))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913891" "0" "10" "12" "56079084" "56079084" "subst" "0.591458" "02326" "ITGA7_000040" "g.56079084C>G" "" "" "" "ITGA7(NM_001144996.2):c.3196-12G>C, ITGA7(NM_002206.3):c.3184-12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913892" "0" "10" "12" "56079358" "56079358" "subst" "0" "02326" "ITGA7_000077" "g.56079358A>T" "" "" "" "ITGA7(NM_002206.3):c.3184-286T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913893" "0" "10" "12" "56080148" "56080148" "subst" "0.597132" "02326" "ITGA7_000078" "g.56080148T>C" "" "" "" "ITGA7(NM_002206.3):c.3184-1076A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913894" "0" "10" "12" "56080164" "56080164" "subst" "0" "02326" "ITGA7_000079" "g.56080164T>G" "" "" "" "ITGA7(NM_002206.3):c.3184-1092A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913895" "0" "30" "12" "56081763" "56081763" "subst" "0" "01804" "ITGA7_000081" "g.56081763G>A" "" "" "" "ITGA7(NM_002206.2):c.3175C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913896" "0" "10" "12" "56082520" "56082520" "del" "0" "02326" "ITGA7_000085" "g.56082520del" "" "" "" "ITGA7(NM_002206.3):c.2958+121delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913897" "0" "10" "12" "56082785" "56082785" "subst" "0.592137" "02326" "ITGA7_000037" "g.56082785C>G" "" "" "" "ITGA7(NM_002206.3):c.2845-44G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913898" "0" "10" "12" "56087160" "56087160" "del" "0" "02326" "ITGA7_000089" "g.56087160del" "" "" "" "ITGA7(NM_002206.3):c.2536-44delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913899" "0" "30" "12" "56093778" "56093778" "subst" "1.22E-5" "01804" "ITGA7_000111" "g.56093778G>A" "" "" "" "ITGA7(NM_002206.2):c.671-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913900" "0" "10" "12" "56094948" "56094948" "subst" "0.062798" "02326" "ITGA7_000022" "g.56094948G>A" "" "" "" "ITGA7(NM_002206.3):c.415-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913901" "0" "10" "12" "56095382" "56095382" "del" "0" "02326" "ITGA7_000118" "g.56095382del" "" "" "" "ITGA7(NM_002206.3):c.415-430delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913902" "0" "10" "12" "56096816" "56096816" "subst" "0.596754" "02326" "ITGA7_000021" "g.56096816T>C" "" "" "" "ITGA7(NM_001144996.2):c.334+19A>G, ITGA7(NM_002206.3):c.334+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913903" "0" "10" "12" "56097025" "56097025" "subst" "0" "02326" "ITGA7_000122" "g.56097025A>C" "" "" "" "ITGA7(NM_002206.3):c.207-63T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913904" "0" "10" "12" "56101081" "56101081" "subst" "0" "02326" "ITGA7_000123" "g.56101081G>C" "" "" "" "ITGA7(NM_002206.3):c.206+180C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949995" "0" "30" "12" "56094894" "56094894" "subst" "0.00133248" "02326" "ITGA7_000114" "g.56094894G>C" "" "" "" "ITGA7(NM_002206.2):c.459C>G (p.(Ile153Met)), ITGA7(NM_002206.3):c.459C>G (p.I153M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949996" "0" "30" "12" "56101421" "56101421" "subst" "0.00141997" "02326" "ITGA7_000125" "g.56101421A>C" "" "" "" "ITGA7(NM_002206.2):c.46T>G (p.(Cys16Gly)), ITGA7(NM_002206.3):c.46T>G (p.C16G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980375" "0" "30" "12" "56075840" "56075840" "subst" "0.00386262" "01804" "ITGA7_000072" "g.56075840C>T" "" "" "" "METTL7B(NM_152637.3):c.302C>T (p.(Pro101Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980376" "0" "30" "12" "56077691" "56077691" "subst" "0.00039388" "01804" "ITGA7_000074" "g.56077691T>C" "" "" "" "METTL7B(NM_152637.3):c.593T>C (p.(Ile198Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980377" "0" "50" "12" "56088579" "56088579" "subst" "8.12645E-6" "01804" "ITGA7_000098" "g.56088579G>A" "" "" "" "ITGA7(NM_002206.3):c.2179C>T (p.(Arg727Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980378" "0" "50" "12" "56093773" "56093773" "subst" "5.28438E-5" "01804" "ITGA7_000110" "g.56093773C>G" "" "" "" "ITGA7(NM_002206.2):c.671G>C (p.G224A), ITGA7(NM_002206.3):c.671G>C (p.(Gly224Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980379" "0" "50" "12" "56094078" "56094078" "subst" "0" "01804" "ITGA7_000112" "g.56094078C>T" "" "" "" "ITGA7(NM_001144996.2):c.770G>A (p.(Arg257His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980380" "0" "50" "12" "56101418" "56101418" "subst" "0" "01804" "ITGA7_000124" "g.56101418A>G" "" "" "" "ITGA7(NM_002206.3):c.49T>C (p.(Tyr17His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000229" "0" "70" "12" "56088562" "56088562" "subst" "4.06237E-5" "01804" "ITGA7_000097" "g.56088562C>T" "" "" "" "ITGA7(NM_002206.2):c.2196G>A (p.(Ala732Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000230" "0" "50" "12" "56092320" "56092320" "subst" "0.000227404" "01804" "ITGA7_000108" "g.56092320G>A" "" "" "" "ITGA7(NM_002206.2):c.1039C>T (p.(Arg347Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000231" "0" "90" "12" "56094908" "56094908" "subst" "2.03217E-5" "01804" "ITGA7_000115" "g.56094908G>A" "" "" "" "ITGA7(NM_002206.2):c.445C>T (p.(Arg149*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026215" "0" "50" "12" "56088603" "56088603" "subst" "0" "01804" "ITGA7_000099" "g.56088603C>T" "" "" "" "ITGA7(NM_002206.2):c.2155G>A (p.(Asp719Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039345" "0" "50" "12" "56081756" "56081756" "subst" "0" "01804" "ITGA7_000080" "g.56081756T>G" "" "" "" "ITGA7(NM_002206.2):c.3182A>C (p.(Lys1061Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039346" "0" "30" "12" "56091709" "56091709" "subst" "0.00159987" "01804" "ITGA7_000054" "g.56091709C>T" "" "" "" "ITGA7(NM_001144996.2):c.1293+13G>A, ITGA7(NM_002206.2):c.1281+13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039347" "0" "30" "12" "56094894" "56094894" "subst" "0.00133248" "01804" "ITGA7_000114" "g.56094894G>C" "" "" "" "ITGA7(NM_002206.2):c.459C>G (p.(Ile153Met)), ITGA7(NM_002206.3):c.459C>G (p.I153M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039348" "0" "30" "12" "56101421" "56101421" "subst" "0.00141997" "01804" "ITGA7_000125" "g.56101421A>C" "" "" "" "ITGA7(NM_002206.2):c.46T>G (p.(Cys16Gly)), ITGA7(NM_002206.3):c.46T>G (p.C16G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054357" "0" "50" "12" "56078988" "56078988" "subst" "0.000292419" "01804" "ITGA7_000076" "g.56078988G>A" "" "" "" "ITGA7(NM_002206.3):c.3268C>T (p.(Gln1090Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054358" "0" "50" "12" "56092319" "56092319" "subst" "6.09132E-5" "01804" "ITGA7_000107" "g.56092319C>T" "" "" "" "ITGA7(NM_002206.3):c.1040G>A (p.(Arg347His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054359" "0" "50" "12" "56096666" "56096666" "subst" "2.85677E-5" "01804" "ITGA7_000119" "g.56096666C>A" "" "" "" "ITGA7(NM_001144996.1):c.404G>T (p.(Gly135Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065763" "0" "50" "12" "56081876" "56081876" "subst" "0" "02325" "ITGA7_000082" "g.56081876G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065764" "0" "50" "12" "56090787" "56090787" "subst" "0" "01804" "ITGA7_000102" "g.56090787A>T" "" "" "" "ITGA7(NM_002206.2):c.1633T>A (p.(Phe545Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065765" "0" "50" "12" "56091754" "56091754" "subst" "0.000125877" "02325" "ITGA7_000106" "g.56091754T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065766" "0" "50" "12" "56095165" "56095165" "subst" "1.33388E-5" "01804" "ITGA7_000117" "g.56095165C>A" "" "" "" "ITGA7(NM_001144997.1):c.121G>T (p.(Glu41*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001071937" "21" "90" "12" "56110777" "56110777" "subst" "8.69883E-6" "00006" "BLOC1S1_000003" "g.56110777A>C" "" "{PMID:De Pace 2026:41887224}" "" "" "" "Germline" "" "" "0" "" "" "g.55716993A>C" "" "pathogenic (recessive)" "" "0001071938" "3" "90" "12" "56112940" "56112940" "subst" "0" "00006" "BLOC1S1_000005" "g.56112940C>A" "" "{PMID:De Pace 2026:41887224}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55719156C>A" "" "pathogenic (recessive)" "" "0001071939" "3" "90" "12" "56112940" "56112940" "subst" "0" "00006" "BLOC1S1_000005" "g.56112940C>A" "" "{PMID:De Pace 2026:41887224}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55719156C>A" "" "pathogenic (recessive)" "" "0001071940" "3" "90" "12" "56110756" "56110756" "subst" "0" "00006" "BLOC1S1_000002" "g.56110756T>C" "" "{PMID:De Pace 2026:41887224}" "" "" "" "Germline" "" "" "0" "" "" "g.55716972T>C" "" "pathogenic (recessive)" "" "0001071941" "3" "90" "12" "56110792" "56110792" "subst" "0" "00006" "BLOC1S1_000004" "g.56110792A>G" "" "{PMID:De Pace 2026:41887224}" "" "" "" "Germline" "" "" "0" "" "" "g.55717008A>G" "" "pathogenic (recessive)" "" "0001071942" "3" "90" "12" "56112940" "56112940" "subst" "0" "00006" "BLOC1S1_000005" "g.56112940C>A" "" "{PMID:De Pace 2026:41887224}" "" "" "" "Germline" "" "" "0" "" "" "g.55719156C>A" "" "pathogenic (recessive)" "" "0001071943" "3" "90" "12" "56112940" "56112940" "subst" "0" "00006" "BLOC1S1_000005" "g.56112940C>A" "" "{PMID:De Pace 2026:41887224}" "" "" "" "Germline" "" "" "0" "" "" "g.55719156C>A" "" "pathogenic (recessive)" "" "0001071944" "3" "90" "12" "56113003" "56113003" "subst" "0" "00006" "BLOC1S1_000006" "g.56113003T>C" "" "{PMID:De Pace 2026:41887224}" "" "" "" "Germline" "" "" "0" "" "" "g.55719219T>C" "" "pathogenic (recessive)" "" "0001071945" "3" "90" "12" "56110716" "56114302" "del" "0" "00006" "BLOC1S1_000001" "g.(56109981_56110716)_(56114302_56114936)del" "" "{PMID:De Pace 2026:41887224}" "" "del ex2-4" "deletion incl, BLOC1S1 ex2-4 and RDH5 ex1" "Germline" "yes" "" "0" "" "" "g.(55716197_55716932)_(55720518_55721152)del" "" "pathogenic (recessive)" "" "0001071946" "3" "90" "12" "56110716" "56114302" "del" "0" "00006" "BLOC1S1_000001" "g.(56109981_56110716)_(56114302_56114936)del" "" "{PMID:De Pace 2026:41887224}" "" "del ex2-4" "deletion incl, BLOC1S1 ex2-4 and RDH5 ex1" "Germline" "yes" "" "0" "" "" "g.(55716197_55716932)_(55720518_55721152)del" "" "pathogenic (recessive)" "" "0001071947" "3" "90" "12" "56110716" "56114302" "del" "0" "00006" "BLOC1S1_000001" "g.(56109981_56110716)_(56114302_56114936)del" "" "{PMID:De Pace 2026:41887224}" "" "del ex2-4" "deletion incl, BLOC1S1 ex2-4 and RDH5 ex1" "Germline" "yes" "" "0" "" "" "g.(55716197_55716932)_(55720518_55721152)del" "" "pathogenic (recessive)" "" "0001071948" "11" "90" "12" "56113290" "56113290" "subst" "0" "00006" "BLOC1S1_000007" "g.56113290G>A" "" "{PMID:De Pace 2026:41887224}" "" "" "" "Germline" "" "" "0" "" "" "g.55719506G>A" "" "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 BLOC1S1 ## Count = 119 "{{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}}" "0000247164" "00003412" "30" "2134" "0" "2134" "0" "c.*1672A>G" "r.(=)" "p.(=)" "" "0000249174" "00003412" "10" "-18219" "0" "-18219" "0" "c.-18219A>G" "r.(?)" "p.(=)" "" "0000252215" "00003412" "30" "-27865" "0" "-27865" "0" "c.-27865A>G" "r.(?)" "p.(=)" "" "0000254847" "00003412" "30" "2597" "0" "2597" "0" "c.*2135A>G" "r.(=)" "p.(=)" "" "0000281579" "00003412" "10" "-20479" "0" "-20479" "0" "c.-20479C>T" "r.(?)" "p.(=)" "" "0000281580" "00003412" "10" "-21063" "0" "-21063" "0" "c.-21063C>T" "r.(?)" "p.(=)" "" "0000281581" "00003412" "10" "-30752" "0" "-30752" "0" "c.-30752C>G" "r.(?)" "p.(=)" "" "0000281582" "00003412" "10" "-13020" "0" "-13020" "0" "c.-13020T>C" "r.(?)" "p.(=)" "" "0000285389" "00003412" "10" "-18127" "0" "-18127" "0" "c.-18127C>T" "r.(?)" "p.(=)" "" "0000285390" "00003412" "30" "-22768" "0" "-22768" "0" "c.-22768C>T" "r.(?)" "p.(=)" "" "0000285391" "00003412" "10" "-3942" "0" "-3942" "0" "c.-3942G>A" "r.(?)" "p.(=)" "" "0000294782" "00003412" "10" "2099" "0" "2099" "0" "c.*1637G>A" "r.(=)" "p.(=)" "" "0000306899" "00003412" "30" "2068" "0" "2068" "0" "c.*1606C>T" "r.(=)" "p.(=)" "" "0000306900" "00003412" "50" "2695" "0" "2695" "0" "c.*2233G>A" "r.(=)" "p.(=)" "" "0000306901" "00003412" "30" "4769" "0" "4769" "0" "c.*4307C>A" "r.(=)" "p.(=)" "" "0000306902" "00003412" "30" "5193" "0" "5193" "0" "c.*4731G>A" "r.(=)" "p.(=)" "" "0000322898" "00003412" "30" "-21113" "0" "-21113" "0" "c.-21113G>T" "r.(?)" "p.(=)" "" "0000322899" "00003412" "30" "-20492" "0" "-20492" "0" "c.-20492A>G" "r.(?)" "p.(=)" "" "0000322900" "00003412" "50" "-19647" "0" "-19647" "0" "c.-19647T>G" "r.(?)" "p.(=)" "" "0000322901" "00003412" "50" "-19026" "0" "-19026" "0" "c.-19026C>T" "r.(?)" "p.(=)" "" "0000322902" "00003412" "30" "-19025" "0" "-19025" "0" "c.-19025G>A" "r.(?)" "p.(=)" "" "0000322905" "00003412" "30" "-17226" "0" "-17226" "0" "c.-17226C>T" "r.(?)" "p.(=)" "" "0000322906" "00003412" "30" "-17168" "0" "-17168" "0" "c.-17168C>T" "r.(?)" "p.(=)" "" "0000322908" "00003412" "30" "-15020" "0" "-15020" "0" "c.-15020C>T" "r.(?)" "p.(=)" "" "0000322909" "00003412" "30" "-12952" "0" "-12952" "0" "c.-12952C>A" "r.(?)" "p.(=)" "" "0000340244" "00003412" "10" "2654" "0" "2654" "0" "c.*2192C>T" "r.(=)" "p.(=)" "" "0000548651" "00003412" "30" "-27811" "0" "-27811" "0" "c.-27811G>C" "r.(?)" "p.(=)" "" "0000548652" "00003412" "30" "-27224" "0" "-27224" "0" "c.-27224C>T" "r.(?)" "p.(=)" "" "0000548653" "00003412" "50" "-27155" "0" "-27155" "0" "c.-27155G>A" "r.(?)" "p.(=)" "" "0000548654" "00003412" "30" "-22843" "0" "-22843" "0" "c.-22843C>T" "r.(?)" "p.(=)" "" "0000548655" "00003412" "30" "-21924" "0" "-21924" "0" "c.-21924C>T" "r.(?)" "p.(=)" "" "0000548656" "00003412" "90" "-21610" "0" "-21610" "0" "c.-21610C>T" "r.(?)" "p.(=)" "" "0000548657" "00003412" "90" "-21529" "0" "-21529" "0" "c.-21529C>T" "r.(?)" "p.(=)" "" "0000548658" "00003412" "30" "-19668" "0" "-19668" "0" "c.-19668T>C" "r.(?)" "p.(=)" "" "0000548659" "00003412" "50" "-19041" "0" "-19041" "0" "c.-19041C>T" "r.(?)" "p.(=)" "" "0000548661" "00003412" "30" "-18852" "0" "-18852" "0" "c.-18852G>C" "r.(?)" "p.(=)" "" "0000548663" "00003412" "30" "-18265" "0" "-18265" "0" "c.-18265G>A" "r.(?)" "p.(=)" "" "0000548664" "00003412" "30" "-18242" "0" "-18242" "0" "c.-18242C>T" "r.(?)" "p.(=)" "" "0000548665" "00003412" "30" "-15697" "0" "-15697" "0" "c.-15697C>A" "r.(?)" "p.(=)" "" "0000548666" "00003412" "30" "-12978" "0" "-12978" "0" "c.-12978T>A" "r.(?)" "p.(=)" "" "0000548667" "00003412" "30" "-3942" "0" "-3942" "0" "c.-3942G>A" "r.(?)" "p.(=)" "" "0000548668" "00003412" "30" "-3904" "0" "-3904" "0" "c.-3904A>C" "r.(?)" "p.(=)" "" "0000548669" "00003412" "10" "2756" "0" "2756" "0" "c.*2294C>T" "r.(=)" "p.(=)" "" "0000548670" "00003412" "10" "4721" "0" "4721" "0" "c.*4259G>A" "r.(=)" "p.(=)" "" "0000548671" "00003412" "90" "4881" "0" "4881" "0" "c.*4419G>T" "r.(=)" "p.(=)" "" "0000614305" "00003412" "30" "-22768" "0" "-22768" "0" "c.-22768C>T" "r.(?)" "p.(=)" "" "0000679594" "00003412" "30" "-22843" "0" "-22843" "0" "c.-22843C>T" "r.(?)" "p.(=)" "" "0000691387" "00003412" "30" "-18501" "0" "-18501" "0" "c.-18501del" "r.(?)" "p.(=)" "" "0000691388" "00003412" "50" "-14910" "0" "-14910" "0" "c.-14910G>A" "r.(?)" "p.(=)" "" "0000691389" "00003412" "50" "2090" "0" "2090" "0" "c.*1628T>C" "r.(=)" "p.(=)" "" "0000724141" "00003412" "30" "-21763" "0" "-21763" "0" "c.-21763C>T" "r.(?)" "p.(=)" "" "0000724142" "00003412" "30" "-21619" "0" "-21619" "0" "c.-21619C>T" "r.(?)" "p.(=)" "" "0000724143" "00003412" "30" "-19075" "0" "-19075" "0" "c.-19075G>C" "r.(?)" "p.(=)" "" "0000724144" "00003412" "30" "-16063" "0" "-16063" "0" "c.-16063C>G" "r.(?)" "p.(=)" "" "0000724145" "00003412" "50" "-8577" "0" "-8577" "0" "c.-8577A>T" "r.(?)" "p.(=)" "" "0000805845" "00003412" "10" "-17472" "0" "-17472" "0" "c.-17472T>C" "r.(?)" "p.(=)" "" "0000805846" "00003412" "10" "4731" "0" "4731" "0" "c.*4269G>C" "r.(=)" "p.(=)" "" "0000805847" "00003412" "50" "5391" "0" "5391" "0" "c.*4929T>C" "r.(=)" "p.(=)" "" "0000863060" "00003412" "30" "-30964" "0" "-30964" "0" "c.-30964G>A" "r.(?)" "p.(=)" "" "0000863061" "00003412" "70" "-27833" "0" "-27833" "0" "c.-27833G>A" "r.(?)" "p.(=)" "" "0000863062" "00003412" "30" "-27824" "0" "-27824" "0" "c.-27824A>G" "r.(?)" "p.(=)" "" "0000863063" "00003412" "70" "-27154" "0" "-27154" "0" "c.-27154dup" "r.(?)" "p.(=)" "" "0000863064" "00003412" "30" "-22768" "0" "-22768" "0" "c.-22768C>T" "r.(?)" "p.(=)" "" "0000863065" "00003412" "90" "-21968" "0" "-21968" "0" "c.-21968del" "r.(?)" "p.(=)" "" "0000863066" "00003412" "90" "-21967" "0" "-21967" "0" "c.-21967A>G" "r.(?)" "p.(=)" "" "0000863067" "00003412" "50" "-21966" "0" "-21966" "0" "c.-21966C>A" "r.(?)" "p.(=)" "" "0000863068" "00003412" "30" "-18761" "0" "-18761" "0" "c.-18761G>A" "r.(?)" "p.(=)" "" "0000863069" "00003412" "30" "2756" "0" "2756" "0" "c.*2294C>T" "r.(=)" "p.(=)" "" "0000863070" "00003412" "50" "2776" "0" "2776" "0" "c.*2314T>C" "r.(=)" "p.(=)" "" "0000890695" "00003412" "70" "-8398" "0" "-8398" "0" "c.-8398dup" "r.(?)" "p.(=)" "" "0000913891" "00003412" "10" "-30752" "0" "-30752" "0" "c.-30752C>G" "r.(?)" "p.(=)" "" "0000913892" "00003412" "10" "-30478" "0" "-30478" "0" "c.-30478A>T" "r.(?)" "p.(=)" "" "0000913893" "00003412" "10" "-29688" "0" "-29688" "0" "c.-29688T>C" "r.(?)" "p.(=)" "" "0000913894" "00003412" "10" "-29672" "0" "-29672" "0" "c.-29672T>G" "r.(?)" "p.(=)" "" "0000913895" "00003412" "30" "-28073" "0" "-28073" "0" "c.-28073G>A" "r.(?)" "p.(=)" "" "0000913896" "00003412" "10" "-27316" "0" "-27316" "0" "c.-27316del" "r.(?)" "p.(=)" "" "0000913897" "00003412" "10" "-27051" "0" "-27051" "0" "c.-27051C>G" "r.(?)" "p.(=)" "" "0000913898" "00003412" "10" "-22676" "0" "-22676" "0" "c.-22676del" "r.(?)" "p.(=)" "" "0000913899" "00003412" "30" "-16058" "0" "-16058" "0" "c.-16058G>A" "r.(?)" "p.(=)" "" "0000913900" "00003412" "10" "-14888" "0" "-14888" "0" "c.-14888G>A" "r.(?)" "p.(=)" "" "0000913901" "00003412" "10" "-14454" "0" "-14454" "0" "c.-14454del" "r.(?)" "p.(=)" "" "0000913902" "00003412" "10" "-13020" "0" "-13020" "0" "c.-13020T>C" "r.(?)" "p.(=)" "" "0000913903" "00003412" "10" "-12811" "0" "-12811" "0" "c.-12811A>C" "r.(?)" "p.(=)" "" "0000913904" "00003412" "10" "-8755" "0" "-8755" "0" "c.-8755G>C" "r.(?)" "p.(=)" "" "0000949995" "00003412" "30" "-14942" "0" "-14942" "0" "c.-14942G>C" "r.(?)" "p.(=)" "" "0000949996" "00003412" "30" "-8415" "0" "-8415" "0" "c.-8415A>C" "r.(?)" "p.(=)" "" "0000980375" "00003412" "30" "-33996" "0" "-33996" "0" "c.-33996C>T" "r.(?)" "p.(=)" "" "0000980376" "00003412" "30" "-32145" "0" "-32145" "0" "c.-32145T>C" "r.(?)" "p.(=)" "" "0000980377" "00003412" "50" "-21257" "0" "-21257" "0" "c.-21257G>A" "r.(?)" "p.(=)" "" "0000980378" "00003412" "50" "-16063" "0" "-16063" "0" "c.-16063C>G" "r.(?)" "p.(=)" "" "0000980379" "00003412" "50" "-15758" "0" "-15758" "0" "c.-15758C>T" "r.(?)" "p.(=)" "" "0000980380" "00003412" "50" "-8418" "0" "-8418" "0" "c.-8418A>G" "r.(?)" "p.(=)" "" "0001000229" "00003412" "70" "-21274" "0" "-21274" "0" "c.-21274C>T" "r.(?)" "p.(=)" "" "0001000230" "00003412" "50" "-17516" "0" "-17516" "0" "c.-17516G>A" "r.(?)" "p.(=)" "" "0001000231" "00003412" "90" "-14928" "0" "-14928" "0" "c.-14928G>A" "r.(?)" "p.(=)" "" "0001026215" "00003412" "50" "-21233" "0" "-21233" "0" "c.-21233C>T" "r.(?)" "p.(=)" "" "0001039345" "00003412" "50" "-28080" "0" "-28080" "0" "c.-28080T>G" "r.(?)" "p.(=)" "" "0001039346" "00003412" "30" "-18127" "0" "-18127" "0" "c.-18127C>T" "r.(?)" "p.(=)" "" "0001039347" "00003412" "30" "-14942" "0" "-14942" "0" "c.-14942G>C" "r.(?)" "p.(=)" "" "0001039348" "00003412" "30" "-8415" "0" "-8415" "0" "c.-8415A>C" "r.(?)" "p.(=)" "" "0001054357" "00003412" "50" "-30848" "0" "-30848" "0" "c.-30848G>A" "r.(?)" "p.(=)" "" "0001054358" "00003412" "50" "-17517" "0" "-17517" "0" "c.-17517C>T" "r.(?)" "p.(=)" "" "0001054359" "00003412" "50" "-13170" "0" "-13170" "0" "c.-13170C>A" "r.(?)" "p.(=)" "" "0001065763" "00003412" "50" "-27960" "0" "-27960" "0" "c.-27960G>A" "r.(?)" "p.(=)" "" "0001065764" "00003412" "50" "-19049" "0" "-19049" "0" "c.-19049A>T" "r.(?)" "p.(=)" "" "0001065765" "00003412" "50" "-18082" "0" "-18082" "0" "c.-18082T>C" "r.(?)" "p.(=)" "" "0001065766" "00003412" "50" "-14671" "0" "-14671" "0" "c.-14671C>A" "r.(?)" "p.(=)" "" "0001071937" "00003412" "90" "206" "0" "206" "0" "c.206A>C" "r.(?)" "p.(His69Pro)" "" "0001071938" "00003412" "90" "284" "0" "284" "0" "c.284C>A" "r.(?)" "p.(Ala95Asp)" "" "0001071939" "00003412" "90" "284" "0" "284" "0" "c.284C>A" "r.(?)" "p.(Ala95Asp)" "" "0001071940" "00003412" "90" "185" "0" "185" "0" "c.185T>C" "r.(?)" "p.(Leu62Pro)" "" "0001071941" "00003412" "90" "218" "3" "218" "3" "c.218+3A>G" "r.(?)" "p.?" "" "0001071942" "00003412" "90" "284" "0" "284" "0" "c.284C>A" "r.(?)" "p.(Ala95Asp)" "" "0001071943" "00003412" "90" "284" "0" "284" "0" "c.284C>A" "r.(?)" "p.(Ala95Asp)" "" "0001071944" "00003412" "90" "347" "0" "347" "0" "c.347T>C" "r.(?)" "p.(Leu116Pro)" "" "0001071945" "00003412" "90" "" "0" "" "0" "c.(145+1_146-1)_(*909_*1543)del" "r.(?)" "p.0?" "1i_4_" "0001071946" "00003412" "90" "" "0" "" "0" "c.(145+1_146-1)_(*909_*1543)del" "r.(?)" "p.0?" "1i_4_" "0001071947" "00003412" "90" "" "0" "" "0" "c.(145+1_146-1)_(*909_*1543)del" "r.(?)" "p.0?" "1i_4_" "0001071948" "00003412" "90" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Gly120Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000476880" "0001071937" "0000476880" "0001071948" "0000476881" "0001071938" "0000476882" "0001071939" "0000476883" "0001071940" "0000476884" "0001071941" "0000476885" "0001071942" "0000476886" "0001071943" "0000476887" "0001071944" "0000476888" "0001071945" "0000476889" "0001071946" "0000476890" "0001071947"