### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADPRHL2) # 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}}" "ADPRHL2" "ADP-ribosylhydrolase like 2" "1" "p34.3" "unknown" "NC_000001.10" "UD_136085462981" "" "https://www.LOVD.nl/ADPRHL2" "" "1" "21304" "54936" "610624" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ADPRHL2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-17 09:29:27" "00000" "2025-05-05 21:14:00" ## 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}}" "00002174" "ADPRHL2" "ADP-ribosylhydrolase like 2" "001" "NM_017825.2" "" "NP_060295.1" "" "" "" "-53" "1638" "1092" "36554453" "36559533" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04225" "-" "neurodegeneration" "" "" "" "" "" "00006" "2015-03-13 20:14:29" "" "" "05729" "CONDSIAS" "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS)" "AR" "618170" "" "" "" "00006" "2020-04-21 09:16:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ADPRHL2" "05729" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00225464" "" "" "" "9" "" "00006" "{PMID:Ghosh 2018:30100084}, {DOI:Ghosh 2018:10.1016/j.ajhg.2018.07.010}" "4-generation family, 9 affected (4F, 5M), unaffected heterozygous carrier parents" "M" "yes" "United Arab Emirates" "04y" "0" "" "" "" "Fam1PatV1" "00225465" "" "" "" "1" "" "00006" "{PMID:Ghosh 2018:30100084}, {DOI:Ghosh 2018:10.1016/j.ajhg.2018.07.010}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "Fam2PatII2" "00225466" "" "" "" "1" "" "00006" "{PMID:Ghosh 2018:30100084}, {DOI:Ghosh 2018:10.1016/j.ajhg.2018.07.010}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam3PatII1" "00225467" "" "" "" "2" "" "00006" "{PMID:Ghosh 2018:30100084}, {DOI:Ghosh 2018:10.1016/j.ajhg.2018.07.010}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam4PatII1" "00225468" "" "" "" "2" "" "00006" "{PMID:Ghosh 2018:30100084}, {DOI:Ghosh 2018:10.1016/j.ajhg.2018.07.010}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Iran" "06y" "0" "" "" "" "Fam5PatII1" "00225469" "" "" "" "1" "" "00006" "{PMID:Ghosh 2018:30100084}, {DOI:Ghosh 2018:10.1016/j.ajhg.2018.07.010}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam6PatII3" "00225470" "" "" "" "2" "" "00006" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "" "Germany" "" "0" "" "" "" "30401461-Fam1" "00225471" "" "" "" "1" "" "00006" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Lebanon" "" "0" "" "" "" "30401461-Fam2" "00225472" "" "" "" "1" "" "00006" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "30401461-Fam3" "00225473" "" "" "" "2" "" "00006" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "" "" "" "0" "" "" "" "30401461-Fam4" "00225474" "" "" "" "1" "" "00006" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Yugoslavia" "" "0" "" "" "Kosovo" "30401461-Fam5" "00225475" "" "" "" "1" "" "00006" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Poland" "" "0" "" "" "" "30401461-Fam6" "00225476" "" "" "" "2" "" "00006" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "China" "" "0" "" "" "" "30401461-Fam7" "00225477" "" "" "" "2" "" "00006" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "Turkey" "" "0" "" "" "" "30401461-Fam8" "00299639" "" "" "" "1" "" "03388" "" "" "F" "yes" "Iran" "07y?" "0" "no" "none" "Persian" "ADPRHL2" "00395653" "" "" "00225464" "1" "" "00006" "{PMID:Ghosh 2018:30100084}" "" "F" "yes" "United Arab Emirates" "2y" "0" "" "" "" "Fam1PatI-IV2" "00395654" "" "" "00225464" "1" "" "00006" "{PMID:Ghosh 2018:30100084}" "" "M" "yes" "United Arab Emirates" "7y" "0" "" "" "" "Fam1PatI-IV3" "00395655" "" "" "00225464" "1" "" "00006" "{PMID:Ghosh 2018:30100084}" "" "M" "yes" "United Arab Emirates" "15y" "0" "" "" "" "Fam1PatI-IV5" "00395656" "" "" "00225464" "1" "" "00006" "{PMID:Ghosh 2018:30100084}" "" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "Fam1PatI-IV11" "00395657" "" "" "00225464" "1" "" "00006" "{PMID:Ghosh 2018:30100084}" "" "F" "yes" "United Arab Emirates" "2y" "0" "" "" "" "Fam1PatII-IV2" "00395658" "" "" "00225464" "1" "" "00006" "{PMID:Ghosh 2018:30100084}" "" "F" "yes" "United Arab Emirates" "2y" "0" "" "" "" "Fam1PatII-IV5" "00395659" "" "" "00225464" "1" "" "00006" "{PMID:Ghosh 2018:30100084}" "" "M" "yes" "United Arab Emirates" "9y" "0" "" "" "" "Fam1PatII-IV6(A1)" "00395660" "" "" "00225464" "1" "" "00006" "{PMID:Ghosh 2018:30100084}" "" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "Fam1PatII-IV7(A2)" "00395661" "" "" "00225467" "1" "" "00006" "{PMID:Ghosh 2018:30100084}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam4PatII3" "00395662" "" "" "00225468" "1" "" "00006" "{PMID:Ghosh 2018:30100084}" "" "F" "yes" "Iran" "" "0" "" "" "" "Fam5PatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00225464" "04225" "00225465" "04225" "00225466" "04225" "00225467" "04225" "00225468" "04225" "00225469" "04225" "00225470" "04225" "00225471" "04225" "00225472" "04225" "00225473" "04225" "00225474" "04225" "00225475" "04225" "00225476" "04225" "00225477" "04225" "00299639" "05729" "00395653" "04225" "00395654" "04225" "00395655" "04225" "00395656" "04225" "00395657" "04225" "00395658" "04225" "00395659" "04225" "00395660" "04225" "00395661" "04225" "00395662" "04225" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04225, 05729 ## Count = 25 "{{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}}" "0000170579" "04225" "00225464" "00006" "Familial, autosomal recessive" "04y" "4y-died in sleep; birth normal; early development normal; spoke in sentences but then deteriorated; normal motor development but then deteriorated; 18m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; phenotype exacerbated by illness and/or stress" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000170580" "04225" "00225465" "00006" "Familial, autosomal recessive" "16y" "birth normal; early development normal; slow speech; normal motor development, 2y-deteriorated; normal but then started deteriorating at age 11 yeras; 11y-MRI cerebellar vermis atrophy; 11y-unsteady gait; phenotype exacerbated by illness and/or stress; 11y-myopathic changes on muscle biopsy" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000170581" "04225" "00225466" "00006" "Familial, autosomal recessive" "15y" "birth normal; early development normal; normal speech; normal motor development; no intellectual disabilityy, then delaye; 12y-MRI mild cerebellar atrophy, spinal cord atrophy; 4y-axonal polyneuropathy; 4y-unsteady gait ; phenotype exacerbated by illness and/or stress; claw hand and pes cavus deformities, scoliosis, 10y-sensorineural hearing loss, tracheotomy, ventilation" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000170582" "04225" "00225467" "00006" "Familial, autosomal recessive" "13y" "birth normal; early development normal; normal speech; normal motor development, 2y-deteriorated; generalized tonic-clonic seizure with illness; mild intellectual disability (IQ 60); 3y-EEG mild slowing background activity; 4y-MRI mild cerebellar atrophy; 4y-normal muscle biopsy; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; asthma" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000170583" "04225" "00225468" "00006" "Familial, autosomal recessive" "06y" "6y-died in sleep; birth normal; early development normal; normal until 1.5y but then deteriorated with difficulty speaking; normal motor development, 1y-deteriorated; 24m-onset seizures; multifocal seizure, generalized tonic-clonic seizure; no intellectual disability, then stagnated; EEG generalized epileptiform activity, slow background; 4y-EMG normal; 1y6m-unsteady gait; phenotype exacerbated by illness and/or stress; progressive weakness, tremors, frequent falling" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000170584" "04225" "00225469" "00006" "Familial, autosomal recessive" "10y" "birth normal; early development normal; speech delayed; normal; mild intellectual disability; EEG normal; 15y-MRI mild cerebellar vermis atrophy, spinal cord atrophy; axonal polyneuropathy; 10y-unsteady gait; phenotype exacerbated by illness and/or stress; distal muscle atrophy, pes cavus deformity, toe abnormality, scoliosis, brisk deep-tendon reflexs, positive Babinski reflex, intentional tremor, ataxia" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000170585" "04225" "00225470" "00006" "Familial, autosomal recessive" "" "see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy" "" "" "" "" "" "" "" "CONDSIAS" "neurodegeneration" "0000170586" "04225" "00225471" "00006" "Familial, autosomal recessive" "" "see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy" "" "" "" "" "" "" "" "CONDSIAS" "neurodegeneration" "0000170587" "04225" "00225472" "00006" "Familial, autosomal recessive" "" "see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy" "" "" "" "" "" "" "" "CONDSIAS" "neurodegeneration" "0000170588" "04225" "00225473" "00006" "Familial, autosomal recessive" "" "see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy" "" "" "" "" "" "" "" "CONDSIAS" "neurodegeneration" "0000170589" "04225" "00225474" "00006" "Familial, autosomal recessive" "" "see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy" "" "" "" "" "" "" "" "CONDSIAS" "neurodegeneration" "0000170590" "04225" "00225475" "00006" "Familial, autosomal recessive" "" "see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy" "" "" "" "" "" "" "" "CONDSIAS" "neurodegeneration" "0000170591" "04225" "00225476" "00006" "Familial, autosomal recessive" "" "see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy" "" "" "" "" "" "" "" "CONDSIAS" "neurodegeneration" "0000170592" "04225" "00225477" "00006" "Familial, autosomal recessive" "" "see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy" "" "" "" "" "" "" "" "CONDSIAS" "neurodegeneration" "0000226949" "05217" "00299639" "03388" "Familial, autosomal recessive" "07y?" "" "?" "07y?" "HP:0000750, HP:0007185, HP:0007240,\tHP:0003270, HP:0007270, HP:0008936, HP:0000408, HP:0008619," "" "" "" "" "Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures" "Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures" "0000288852" "04225" "00395653" "00006" "Familial, autosomal recessive" "2y" "2y-died in sleep; birth normal; early development normal; 2y-speech few words; normal motor development until death; 19m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress;" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000288853" "04225" "00395654" "00006" "Familial, autosomal recessive" "7y" "7y-died from seisure; birth normal; early development normal; speech normal until 2.5y but then no further development; normal motor development but then deteriorated; 19m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress;" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000288854" "04225" "00395655" "00006" "Familial, autosomal recessive" "15y" "15y-died respiratory failure; birth normal; early development normal; speech normal until 3.5y but then deteriorated; normal motor development but then deteriorated; 24m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; 5y-MRI normal; 3y-unsteady gait; phenotype exacerbated by illness and/or stress; hypotonia with repeated pneumonia, ventilator dependent at time of death" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000288855" "04225" "00395656" "00006" "Familial, autosomal recessive" "4y" "birth normal; early development normal; speaks only a few words; normal motor development but then deteriorated; 15m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; can walk but is very unsteady" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000288856" "04225" "00395657" "00006" "Familial, autosomal recessive" "2y" "2y-died in sleep 1 week after flu-like illness; birth normal; early development normal; normal speech until death; normal motor development but then deteriorated; 24m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress; progressive weakness" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000288857" "04225" "00395658" "00006" "Familial, autosomal recessive" "2y" "2y-died fron seizure after playing; birth normal; early development normal; normal speech until death; normal motor development until death; 15m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress; progressive weakness" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000288858" "04225" "00395659" "00006" "Familial, autosomal recessive" "9y" "9y-died from respiratory failure after long airplane trip; birth normal; early development normal; speech normal until 25y but then deteriorated; normal motor development, 2y-deteriorated; 18m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; EEG generalized epileptiform activity, slow background; 7y-MRI mild cerebellar atrophy; nerve biopsy with severe axonal loss; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; repeated pneumonia, repeated cardiac arrest, profound type II muscle fiber atrophy" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000288859" "04225" "00395660" "00006" "Familial, autosomal recessive" "3y" "birth normal; early development normal; normal speech but then deteriorated; 14m-walk, 19m-ataxia, poor balance; 16m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; EEG generalized epileptiform activity, slow background; 7y-MRI mild cerebellar atrophy; 20m-unsteady gait; phenotype exacerbated by illness and/or stress; normal hearing but then developed severe SNHL, severe kyphoscoliosis, one episode of cardiac arrest" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000288860" "04225" "00395661" "00006" "Familial, autosomal recessive" "2y" "birth normal; mild developmental delay; speech delayed; motor development mildly delayed; 9m-onset seizures; generalized tonic-clonic seizure with illness; mild global developmental delay; EEG normal; 11m-MRI normal; phenotype exacerbated by illness and/or stress;" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" "0000288861" "04225" "00395662" "00006" "Familial, autosomal recessive" "3y" "birth normal; early development normal; speaks only a few words; normal motor development, 1.5y-deteriorated; 36m-onset seizures; multifocal seizure, generalized tonic-clonic seizure; no intellectual disability, then stagnated; EEG normal; 3y-MRI normal; 4y-axonal polyneuropathy; 1y6m-unsteady gait; phenotype exacerbated by illness and/or stress; progressive weakness, progressive external ophthalmoplegia" "" "" "" "" "" "" "" "CONDSIAS" "neurodegenerative disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000226543" "00225464" "1" "00006" "00006" "2019-02-17 09:44:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226544" "00225465" "1" "00006" "00006" "2019-02-17 09:44:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226545" "00225466" "1" "00006" "00006" "2019-02-17 09:44:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226546" "00225467" "1" "00006" "00006" "2019-02-17 09:44:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226547" "00225468" "1" "00006" "00006" "2019-02-17 09:44:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226548" "00225469" "1" "00006" "00006" "2019-02-17 09:44:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226549" "00225470" "1" "00006" "00006" "2019-02-17 10:15:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226550" "00225471" "1" "00006" "00006" "2019-02-17 10:15:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226551" "00225472" "1" "00006" "00006" "2019-02-17 10:15:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226552" "00225473" "1" "00006" "00006" "2019-02-17 10:15:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226553" "00225474" "1" "00006" "00006" "2019-02-17 10:15:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226554" "00225475" "1" "00006" "00006" "2019-02-17 10:15:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226555" "00225476" "1" "00006" "00006" "2019-02-17 10:15:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226556" "00225477" "1" "00006" "00006" "2019-02-17 10:15:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000300749" "00299639" "1" "03388" "03388" "2020-04-18 08:25:30" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "WES" "0000396892" "00395653" "1" "00006" "00006" "2021-12-08 21:39:46" "" "" "SEQ" "DNA" "" "" "0000396893" "00395654" "1" "00006" "00006" "2021-12-08 21:39:46" "" "" "SEQ" "DNA" "" "" "0000396894" "00395655" "1" "00006" "00006" "2021-12-08 21:39:46" "" "" "SEQ" "DNA" "" "" "0000396895" "00395656" "1" "00006" "00006" "2021-12-08 21:39:46" "" "" "SEQ" "DNA" "" "" "0000396896" "00395657" "1" "00006" "00006" "2021-12-08 21:39:46" "" "" "SEQ" "DNA" "" "" "0000396897" "00395658" "1" "00006" "00006" "2021-12-08 21:39:46" "" "" "SEQ" "DNA" "" "" "0000396898" "00395659" "1" "00006" "00006" "2021-12-08 21:39:46" "" "" "SEQ" "DNA" "" "" "0000396899" "00395660" "1" "00006" "00006" "2021-12-08 21:39:46" "" "" "SEQ" "DNA" "" "" "0000396900" "00395661" "1" "00006" "00006" "2021-12-08 21:39:46" "" "" "SEQ" "DNA" "" "" "0000396901" "00395662" "1" "00006" "00006" "2021-12-08 21:39:46" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000226543" "ADPRHL2" "0000226544" "ADPRHL2" "0000226545" "ADPRHL2" "0000226546" "ADPRHL2" "0000226547" "ADPRHL2" "0000226548" "ADPRHL2" "0000226549" "ADPRHL2" "0000226550" "ADPRHL2" "0000226551" "ADPRHL2" "0000226552" "ADPRHL2" "0000226553" "ADPRHL2" "0000226554" "ADPRHL2" "0000226555" "ADPRHL2" "0000226556" "ADPRHL2" "0000300749" "ADPRHL2" "0000396892" "ADPRHL2" "0000396893" "ADPRHL2" "0000396894" "ADPRHL2" "0000396895" "ADPRHL2" "0000396896" "ADPRHL2" "0000396897" "ADPRHL2" "0000396898" "ADPRHL2" "0000396899" "ADPRHL2" "0000396900" "ADPRHL2" "0000396901" "ADPRHL2" ## 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 = 43 "{{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}}" "0000253540" "0" "10" "1" "36564145" "36564145" "subst" "0.00127043" "01943" "COL8A2_000002" "g.36564145A>G" "" "" "" "COL8A2(NM_005202.3):c.1137T>C (p.G379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36098544A>G" "" "benign" "" "0000267062" "0" "10" "1" "36563158" "36563158" "subst" "0.796456" "02325" "COL8A2_000001" "g.36563158C>A" "" "" "" "COL8A2(NM_005202.4):c.*12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36097557C>A" "" "benign" "" "0000274300" "0" "30" "1" "36564493" "36564493" "subst" "8.27185E-5" "01943" "COL8A2_000003" "g.36564493C>G" "" "" "" "COL8A2(NM_005202.3):c.789G>C (p.R263S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36098892C>G" "" "likely benign" "" "0000458862" "3" "90" "1" "36558895" "36558895" "subst" "0" "00006" "ADPRHL2_000001" "g.36558895C>T" "" "{PMID:Ghosh 2018:30100084}, {DOI:Ghosh 2018:10.1016/j.ajhg.2018.07.010}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36093294C>T" "" "pathogenic (recessive)" "" "0000458863" "3" "90" "1" "36557226" "36557226" "subst" "8.49372E-6" "00006" "ADPRHL2_000002" "g.36557226C>T" "" "{PMID:Ghosh 2018:30100084}, {DOI:Ghosh 2018:10.1016/j.ajhg.2018.07.010}" "" "" "" "Germline" "" "" "0" "" "" "g.36091625C>T" "" "pathogenic (recessive)" "" "0000458864" "3" "90" "1" "36556868" "36556868" "subst" "0" "00006" "ADPRHL2_000003" "g.36556868A>C" "" "{PMID:Ghosh 2018:30100084}, {DOI:Ghosh 2018:10.1016/j.ajhg.2018.07.010}" "" "" "" "Germline" "" "" "0" "" "" "g.36091267A>C" "" "pathogenic (recessive)" "" "0000458865" "3" "90" "1" "36557324" "36557328" "del" "0" "00006" "ADPRHL2_000004" "g.36557324_36557328del" "" "{PMID:Ghosh 2018:30100084}, {DOI:Ghosh 2018:10.1016/j.ajhg.2018.07.010}" "" "414_418delTGCCC" "" "Germline" "yes" "" "0" "" "" "g.36091723_36091727del" "" "pathogenic (recessive)" "" "0000458866" "3" "90" "1" "36557524" "36557524" "subst" "4.13654E-6" "00006" "ADPRHL2_000005" "g.36557524C>T" "" "{PMID:Ghosh 2018:30100084}, {DOI:Ghosh 2018:10.1016/j.ajhg.2018.07.010}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36091923C>T" "" "pathogenic (recessive)" "" "0000458867" "3" "90" "1" "36554605" "36554605" "" "0" "00006" "ADPRHL2_000006" "g. 36554605G>A" "" "{PMID:Ghosh 2018:30100084}, {DOI:Ghosh 2018:10.1016/j.ajhg.2018.07.010}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000458868" "3" "90" "1" "36558899" "36558899" "subst" "8.93358E-5" "00006" "ADPRHL2_000007" "g.36558899T>G" "" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36093298T>G" "" "pathogenic (recessive)" "" "0000458869" "3" "90" "1" "36558065" "36558067" "del" "0" "00006" "ADPRHL2_000008" "g.36558065_36558067del" "" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "" "" "" "Germline" "" "" "0" "" "" "g.36092464_36092466del" "" "pathogenic (recessive)" "" "0000458870" "3" "90" "1" "36558933" "36558933" "subst" "1.21835E-5" "00006" "ADPRHL2_000009" "g.36558933C>G" "" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "" "" "" "Germline" "" "" "0" "" "" "g.36093332C>G" "" "pathogenic (recessive)" "" "0000458871" "3" "90" "1" "36558899" "36558899" "subst" "8.93358E-5" "00006" "ADPRHL2_000007" "g.36558899T>G" "" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36093298T>G" "" "pathogenic (recessive)" "" "0000458872" "3" "90" "1" "36558899" "36558899" "subst" "8.93358E-5" "00006" "ADPRHL2_000007" "g.36558899T>G" "" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "" "" "" "Germline" "" "" "0" "" "" "g.36093298T>G" "" "pathogenic (recessive)" "" "0000458873" "3" "90" "1" "36558899" "36558899" "subst" "8.93358E-5" "00006" "ADPRHL2_000007" "g.36558899T>G" "" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "" "" "" "Germline" "" "" "0" "" "" "g.36093298T>G" "" "pathogenic (recessive)" "" "0000458874" "3" "90" "1" "36557218" "36557218" "subst" "0" "00006" "ADPRHL2_000010" "g.36557218G>T" "" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36091617G>T" "" "pathogenic (recessive)" "" "0000458875" "3" "90" "1" "36556925" "36556925" "del" "0" "00006" "ADPRHL2_000011" "g.36556925del" "" "{PMID:Danhauser 2018:30401461}, {DOI:Danhauser 2018:10.1016/j.ajhg.2018.10.005}" "" "292delG" "" "Germline" "yes" "" "0" "" "" "g.36091324del" "" "pathogenic (recessive)" "" "0000507313" "0" "50" "1" "36557324" "36557328" "del" "0" "02329" "ADPRHL2_000004" "g.36557324_36557328del" "" "" "" "ADPRS(NM_017825.3):c.414_418delTGCCC (p.A139Gfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36091723_36091727del" "" "VUS" "" "0000507315" "0" "30" "1" "36563583" "36563583" "subst" "0.000959935" "01943" "ADPRHL2_000013" "g.36563583C>T" "" "" "" "COL8A2(NM_005202.3):c.1699G>A (p.G567S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36097982C>T" "" "likely benign" "" "0000507316" "0" "30" "1" "36563820" "36563820" "subst" "0.000180156" "01943" "ADPRHL2_000014" "g.36563820G>A" "" "" "" "COL8A2(NM_005202.3):c.1462C>T (p.L488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36098219G>A" "" "likely benign" "" "0000507317" "0" "30" "1" "36564142" "36564142" "subst" "0.000100987" "01943" "ADPRHL2_000015" "g.36564142C>G" "" "" "" "COL8A2(NM_005202.3):c.1140G>C (p.E380D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36098541C>G" "" "likely benign" "" "0000605727" "0" "50" "1" "36563558" "36563558" "subst" "0.00139891" "01943" "ADPRHL2_000016" "g.36563558G>A" "" "" "" "COL8A2(NM_005202.3):c.1724C>T (p.P575L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36097957G>A" "" "VUS" "" "0000620618" "0" "30" "1" "36563981" "36563981" "subst" "0.00116988" "01943" "ADPRHL2_000017" "g.36563981C>T" "" "" "" "COL8A2(NM_005202.3):c.1301G>A (p.R434H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36098380C>T" "" "likely benign" "" "0000663558" "3" "70" "1" "36557633" "36557636" "del" "0" "03388" "ADPRHL2_000018" "g.36557633_36557636del" "" "" "" "636_639del" "" "Germline" "yes" "" "0" "" "" "g.36092032_36092035del" "" "likely pathogenic" "" "0000675832" "0" "30" "1" "36558035" "36558035" "subst" "0.000166603" "01943" "ADPRHL2_000019" "g.36558035G>A" "" "" "" "ADPRHL2(NM_017825.3):c.714G>A (p.E238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675833" "0" "30" "1" "36563536" "36563536" "subst" "0.00321183" "01943" "ADPRHL2_000020" "g.36563536G>A" "" "" "" "COL8A2(NM_005202.3):c.1746C>T (p.T582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688154" "0" "50" "1" "36564371" "36564371" "subst" "0.000113296" "01943" "ADPRHL2_000021" "g.36564371C>T" "" "" "" "COL8A2(NM_005202.3):c.911G>A (p.R304Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717449" "0" "50" "1" "36557625" "36557625" "subst" "4.06359E-6" "01943" "ADPRHL2_000022" "g.36557625T>C" "" "" "" "ADPRHL2(NM_017825.3):c.631T>C (p.F211L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717450" "0" "30" "1" "36563278" "36563278" "subst" "1.62594E-5" "01943" "ADPRHL2_000023" "g.36563278C>A" "" "" "" "COL8A2(NM_005202.3):c.2004G>T (p.R668=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000828597" "3" "90" "1" "36558895" "36558895" "subst" "0" "00006" "ADPRHL2_000001" "g.36558895C>T" "" "{PMID:Ghosh 2018:30100084}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36093294C>T" "" "pathogenic (recessive)" "" "0000828598" "3" "90" "1" "36558895" "36558895" "subst" "0" "00006" "ADPRHL2_000001" "g.36558895C>T" "" "{PMID:Ghosh 2018:30100084}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36093294C>T" "" "pathogenic (recessive)" "" "0000828599" "3" "90" "1" "36558895" "36558895" "subst" "0" "00006" "ADPRHL2_000001" "g.36558895C>T" "" "{PMID:Ghosh 2018:30100084}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36093294C>T" "" "pathogenic (recessive)" "" "0000828600" "3" "90" "1" "36558895" "36558895" "subst" "0" "00006" "ADPRHL2_000001" "g.36558895C>T" "" "{PMID:Ghosh 2018:30100084}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36093294C>T" "" "pathogenic (recessive)" "" "0000828601" "3" "90" "1" "36558895" "36558895" "subst" "0" "00006" "ADPRHL2_000001" "g.36558895C>T" "" "{PMID:Ghosh 2018:30100084}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36093294C>T" "" "pathogenic (recessive)" "" "0000828602" "3" "90" "1" "36558895" "36558895" "subst" "0" "00006" "ADPRHL2_000001" "g.36558895C>T" "" "{PMID:Ghosh 2018:30100084}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36093294C>T" "" "pathogenic (recessive)" "" "0000828603" "3" "90" "1" "36558895" "36558895" "subst" "0" "00006" "ADPRHL2_000001" "g.36558895C>T" "" "{PMID:Ghosh 2018:30100084}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36093294C>T" "" "pathogenic (recessive)" "" "0000828604" "3" "90" "1" "36558895" "36558895" "subst" "0" "00006" "ADPRHL2_000001" "g.36558895C>T" "" "{PMID:Ghosh 2018:30100084}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36093294C>T" "" "pathogenic (recessive)" "" "0000828605" "3" "90" "1" "36557324" "36557328" "del" "0" "00006" "ADPRHL2_000004" "g.36557324_36557328del" "" "{PMID:Ghosh 2018:30100084}" "" "414_418delTGCCC" "" "Germline" "yes" "" "0" "" "" "g.36091723_36091727del" "" "pathogenic (recessive)" "" "0000828606" "3" "90" "1" "36557524" "36557524" "subst" "4.13654E-6" "00006" "ADPRHL2_000005" "g.36557524C>T" "" "{PMID:Ghosh 2018:30100084}" "" "" "" "Germline" "yes" "" "0" "" "" "g.36091923C>T" "" "pathogenic (recessive)" "" "0000848715" "0" "50" "1" "36563402" "36563402" "subst" "0" "01943" "ADPRHL2_000025" "g.36563402T>G" "" "" "" "COL8A2(NM_005202.3):c.1880A>C (p.H627P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857468" "0" "50" "1" "36563232" "36563232" "subst" "0" "01943" "ADPRHL2_000024" "g.36563232C>T" "" "" "" "COL8A2(NM_005202.3):c.2050G>A (p.G684S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032004" "0" "50" "1" "36557606" "36557606" "subst" "8.12744E-6" "01804" "ADPRHL2_000026" "g.36557606C>T" "" "" "" "ADPRHL2(NM_017825.3):c.612C>T (p.(Gly204=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032005" "0" "50" "1" "36558902" "36558902" "subst" "0.000629406" "01804" "ADPRHL2_000027" "g.36558902C>T" "" "" "" "ADPRHL2(NM_017825.3):c.1007C>T (p.(Pro336Leu))" "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 ADPRHL2 ## Count = 43 "{{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}}" "0000253540" "00002174" "10" "6250" "0" "6250" "0" "c.*5158A>G" "r.(=)" "p.(=)" "" "0000267062" "00002174" "10" "5263" "0" "5263" "0" "c.*4171C>A" "r.(=)" "p.(=)" "" "0000274300" "00002174" "30" "6598" "0" "6598" "0" "c.*5506C>G" "r.(=)" "p.(=)" "" "0000458862" "00002174" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Gln334*)" "" "0000458863" "00002174" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Gln106*)" "" "0000458864" "00002174" "90" "235" "0" "235" "0" "c.235A>C" "r.(?)" "p.(Thr79Pro)" "" "0000458865" "00002174" "90" "414" "0" "418" "0" "c.414_418del" "r.(?)" "p.(Ala139Glyfs*4)" "" "0000458866" "00002174" "90" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Ser177Leu)" "" "0000458867" "00002174" "90" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Asp34Asn)" "" "0000458868" "00002174" "90" "1004" "0" "1004" "0" "c.1004T>G" "r.(?)" "p.(Val335Gly)" "" "0000458869" "00002174" "90" "744" "0" "746" "0" "c.744_746del" "r.(?)" "p.(Lys248_Ile249delinsAsn)" "" "0000458870" "00002174" "90" "1038" "0" "1038" "0" "c.1038C>G" "r.(?)" "p.(Tyr346*)" "" "0000458871" "00002174" "90" "1004" "0" "1004" "0" "c.1004T>G" "r.(?)" "p.(Val335Gly)" "" "0000458872" "00002174" "90" "1004" "0" "1004" "0" "c.1004T>G" "r.(?)" "p.(Val335Gly)" "" "0000458873" "00002174" "90" "1004" "0" "1004" "0" "c.1004T>G" "r.(?)" "p.(Val335Gly)" "" "0000458874" "00002174" "90" "309" "-1" "309" "-1" "c.309-1G>T" "r.spl" "p.?" "" "0000458875" "00002174" "90" "292" "0" "292" "0" "c.292del" "r.(?)" "p.(Val98Trpfs*23)" "" "0000507313" "00002174" "50" "414" "0" "418" "0" "c.414_418del" "r.(?)" "p.(Ala139GlyfsTer4)" "" "0000507315" "00002174" "30" "5688" "0" "5688" "0" "c.*4596C>T" "r.(=)" "p.(=)" "" "0000507316" "00002174" "30" "5925" "0" "5925" "0" "c.*4833G>A" "r.(=)" "p.(=)" "" "0000507317" "00002174" "30" "6247" "0" "6247" "0" "c.*5155C>G" "r.(=)" "p.(=)" "" "0000605727" "00002174" "50" "5663" "0" "5663" "0" "c.*4571G>A" "r.(=)" "p.(=)" "" "0000620618" "00002174" "30" "6086" "0" "6086" "0" "c.*4994C>T" "r.(=)" "p.(=)" "" "0000663558" "00002174" "70" "639" "0" "642" "0" "c.639_642del" "r.(?)" "p.(Lys213Asnfs*33)" "" "0000675832" "00002174" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Glu238=)" "" "0000675833" "00002174" "30" "5641" "0" "5641" "0" "c.*4549G>A" "r.(=)" "p.(=)" "" "0000688154" "00002174" "50" "6476" "0" "6476" "0" "c.*5384C>T" "r.(=)" "p.(=)" "" "0000717449" "00002174" "50" "631" "0" "631" "0" "c.631T>C" "r.(?)" "p.(Phe211Leu)" "" "0000717450" "00002174" "30" "5383" "0" "5383" "0" "c.*4291C>A" "r.(=)" "p.(=)" "" "0000828597" "00002174" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Gln334*)" "" "0000828598" "00002174" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Gln334*)" "" "0000828599" "00002174" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Gln334*)" "" "0000828600" "00002174" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Gln334*)" "" "0000828601" "00002174" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Gln334*)" "" "0000828602" "00002174" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Gln334*)" "" "0000828603" "00002174" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Gln334*)" "" "0000828604" "00002174" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Gln334*)" "" "0000828605" "00002174" "90" "414" "0" "418" "0" "c.414_418del" "r.(?)" "p.(Ala139Glyfs*4)" "" "0000828606" "00002174" "90" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Ser177Leu)" "" "0000848715" "00002174" "50" "5507" "0" "5507" "0" "c.*4415T>G" "r.(=)" "p.(=)" "" "0000857468" "00002174" "50" "5337" "0" "5337" "0" "c.*4245C>T" "r.(=)" "p.(=)" "" "0001032004" "00002174" "50" "612" "0" "612" "0" "c.612C>T" "r.(?)" "p.(=)" "" "0001032005" "00002174" "50" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Pro336Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000226543" "0000458862" "0000226544" "0000458863" "0000226545" "0000458864" "0000226546" "0000458865" "0000226547" "0000458866" "0000226548" "0000458867" "0000226549" "0000458868" "0000226550" "0000458869" "0000226551" "0000458870" "0000226552" "0000458871" "0000226553" "0000458872" "0000226554" "0000458873" "0000226555" "0000458874" "0000226556" "0000458875" "0000300749" "0000663558" "0000396892" "0000828597" "0000396893" "0000828598" "0000396894" "0000828599" "0000396895" "0000828600" "0000396896" "0000828601" "0000396897" "0000828602" "0000396898" "0000828603" "0000396899" "0000828604" "0000396900" "0000828605" "0000396901" "0000828606"