### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HEXA) # 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}}" "HEXA" "hexosaminidase A (alpha polypeptide)" "15" "q24.1" "unknown" "NG_009017.1" "UD_132118488683" "" "http://www.LOVD.nl/HEXA" "" "1" "4878" "3073" "606869" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/HEXA_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2016-06-12 12:34:08" "00000" "2026-01-20 18:57:21" ## 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}}" "00000094" "HEXA" "hexosaminidase A (alpha polypeptide)" "001" "NM_000520.4" "" "NP_000511.2" "" "" "" "-207" "2230" "1590" "72668520" "72635778" "00002" "2012-05-11 13:12:04" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02091" "TSD" "Tay-Sachs disease (TSD)" "AR" "272800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03334" "ALS12" "sclerosis, lateral, amyotrophic, type type 12 (ALS12)" "" "613435" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04201" "SCAR" "ataxia, spinocerebellar, autosomal recessive" "AR" "" "" "" "" "00006" "2015-02-20 09:53:55" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HEXA" "02091" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00000069" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00073149" "" "" "" "1" "" "01400" "ATX46" "" "M" "" "France" "" "0" "" "" "" "" "00269920" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00291292" "" "" "" "39" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291294" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295580" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00304478" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307741" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411084" "00362733" "" "" "" "1" "" "04054" "Abtahi2021 submitted" "" "F" "yes" "Iran" "" "" "" "" "" "" "00372554" "" "" "" "1" "" "00006" "{DOI:Voisin 2021:33961779}, {DOI:Voisin 2021:10.1016/j.ajhg.2021.04.001}" "" "M" "" "" "" "0" "" "" "" "Pat16" "00374341" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5250" "00374342" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5286" "00397528" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "190239" "00414706" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA03575" "00427062" "" "" "" "1" "" "00006" "{PMID:Reiner 2022:36459106}" "carrier screening 73,755 controls" "" "" "United States" "" "0" "" "" "" "" "00434134" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00449859" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00453479" "" "" "" "1" "" "00006" "{PMID:Lau 1989:2531748}" "" "" "" "Italy" "" "0" "" "" "" "WG1051" "00456230" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat8" "00456231" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat9" "00456233" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat11" "00456236" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat14" "00456243" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat21" "00468900" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040)" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00073149" "04201" "00269920" "00198" "00291292" "00198" "00291294" "00198" "00295580" "00198" "00304478" "00198" "00307741" "00139" "00362733" "02091" "00372554" "05611" "00374341" "00198" "00374342" "00198" "00397528" "03334" "00414706" "04214" "00427062" "00000" "00434134" "02091" "00449859" "05356" "00453479" "02091" "00456230" "00198" "00456231" "00198" "00456233" "00198" "00456236" "00198" "00456243" "00198" "00468900" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 02091, 03334, 04201, 04214, 05356, 05611 ## Count = 17 "{{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}}" "0000053279" "04201" "00073149" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000207716" "00198" "00269920" "01164" "Unknown" "" "Ataxia (HP:0001251)" "" "" "" "" "" "" "" "" "" "" "" "0000223145" "00198" "00295580" "01164" "Unknown" "" "Elevated serum creatine phosphokinase (HP:0003236); Abnormal levels of creatine kinase in blood (HP:0040081); Quadriceps muscle weakness (HP:0003731); Proximal muscle weakness in lower limbs (HP:0008994)" "" "" "" "" "" "" "" "" "" "" "" "0000258103" "02091" "00362733" "04054" "Familial, autosomal recessive" "" "HP:0010729 Cherry red spot of the macula\r\nHP:0001250 Seizure\r\nHP:0002361 Psychomotor deterioration\r\nHP:0002376 Developmental regression\r\nHP:0001252 Hypotonia" "" "" "infantile" "" "" "" "" "" "Tay-sachs Disease" "Tay-sachs Disease" "" "0000267868" "05611" "00372554" "00006" "Isolated (sporadic)" "00y08m" "severe developmental delay/intellectual disability; Generalized and focal seizures (onset at 3 months, treatment resistant); Hypotonia; Strabismus; MRI brain borderline delayed myelination pattern, mild generalized prominence of the extra-axial CSF spaces; no microcephaly; Bulbous naval tip, anteverted nares; normal philtrum; normal mouth; no teeth and gum abnormalities; normal chin; abundant scalp hair; Large appearing ears; mesomelic dysplasia lower limbs; arms and legs radial heads hypoplastic and posteriorly subluxated, bilateral fibular hemimelia, long halluces; Overlapping fingers, Camptodactyly, 5th finger clinodactyly, hypoplastic flexion creases, single transverse palmar creases; Deep Sacral dimple; normal hips and pelvis; horseshoe kidney; no failure to thrive; no respiratory problems; Short stature, 2 small muscular ventricular septal defects, grade 1 vesicoureteral reflux" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000269551" "00198" "00374341" "00006" "Familial, autosomal recessive" "" "Febrile encephalopathy, neuroregression, seizures, cherry red spot, hepatomegaly, macrocephaly and coarse facies" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269552" "00198" "00374342" "00006" "Familial, autosomal recessive" "" "Febrile seizures, delayed motor development, failure to thrive, milestone regression. Biochemical test indicated elevated ammonia levels" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000290650" "03334" "00397528" "01164" "Familial" "53y" "Skeletal muscle atrophy, Muscle weakness, Proximal muscle weakness, Elevated circulating creatine kinase concentration, Polyneuropathy, Sensory axonal neuropathy, Peripheral axonal neuropathy, Peripheral neuropathy, Calcium channel antibody positivity, Autoimmunity\r\n; father with ALS" "" "" "" "" "" "" "" "" "" "" "" "0000306501" "04214" "00414706" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Tay-Sachs disease" "" "" "0000324488" "02091" "00434134" "01164" "Unknown" "" "Hexosaminidase A deficiency, Psychomotor degeneration, Paralysis" "" "" "" "" "" "" "" "" "" "1y" "" "0000339006" "05356" "00449859" "03544" "Familial" "" "HP:0002066, HP:0001272, HP:0002061" "" "" "" "" "" "" "" "" "TSD" "ataxia" "" "0000344749" "00198" "00456230" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "3y" "" "" "" "" "" "" "" "TSD" "lysosomal storage disorder" "" "0000344750" "00198" "00456231" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "4y" "" "" "" "" "" "" "" "TSD" "lysosomal storage disorder" "" "0000344752" "00198" "00456233" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "5y" "" "" "" "" "" "" "" "TSD" "lysosomal storage disorder" "" "0000344755" "00198" "00456236" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "12m" "" "" "" "" "" "" "" "TSD" "lysosomal storage disorder" "" "0000344762" "00198" "00456243" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "20m" "" "" "" "" "" "" "" "TSD" "lysosomal storage disorder" "" "0000354053" "00198" "00468900" "00006" "Unknown" "" "failure to thrive, microcephaly, developmental delay/regression, optic atrophy, seizures" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000069" "00000069" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000073309" "00073149" "1" "01400" "01400" "2016-06-08 14:36:25" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000271073" "00269920" "1" "01164" "01164" "2019-12-10 12:33:37" "" "" "SEQ-NG-S" "DNA" "" "" "0000292460" "00291292" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292462" "00291294" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296750" "00295580" "1" "01164" "01164" "2020-03-18 10:48:56" "" "" "SEQ-NG-S" "DNA" "" "" "0000305607" "00304478" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308881" "00307741" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000363961" "00362733" "1" "04054" "04054" "2021-04-23 12:41:10" "" "" "SEQ" "DNA" "peripheral blood leukocytes" "" "0000373787" "00372554" "1" "00006" "00006" "2021-05-09 16:07:45" "" "" "arraySNP;SEQ-NG" "DNA" "" "" "0000375535" "00374341" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375536" "00374342" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000398768" "00397528" "1" "01164" "01164" "2021-12-23 13:01:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000415987" "00414706" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000428382" "00427062" "1" "00006" "00006" "2022-12-04 12:45:35" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000435601" "00434134" "1" "01164" "01164" "2023-03-20 16:59:04" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000451455" "00449859" "1" "03544" "03544" "2024-05-21 07:46:52" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000455093" "00453479" "1" "00006" "00006" "2024-09-05 12:07:47" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000457847" "00456230" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457848" "00456231" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457850" "00456233" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457853" "00456236" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457860" "00456243" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000470568" "00468900" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{geneid}}" "0000000069" "AHI1" "0000000069" "ARSB" "0000000069" "ATP7B" "0000000069" "CYP27A1" "0000000069" "ETFB" "0000000069" "GLB1" "0000000069" "HEXA" "0000000069" "HEXB" "0000000069" "LAMA2" "0000000069" "MTHFR" "0000000069" "MYO5A" "0000000069" "NHLRC1" "0000000069" "NPHS1" "0000000069" "PMM2" "0000000069" "SBDS" "0000073309" "HEXA" "0000073309" "NDUFA1" "0000308881" "HEXA" "0000363961" "HEXA" "0000373787" "AFF3" "0000375535" "HEXA" "0000375536" "HEXA" "0000398768" "HEXA" "0000398768" "OPTN" "0000415987" "HEXA" "0000435601" "HEXA" "0000455093" "HEXA" ## 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 = 110 "{{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}}" "0000000559" "0" "50" "15" "72640388" "72640388" "subst" "0.00021137" "00002" "HEXA_000001" "g.72640388C>T" "" "" "" " INTRON 9, IVS9+1G>A, CHR15:70427442G>A" "" "Germline" "" "" "" "" "" "g.72348047C>T" "" "VUS" "" "0000000561" "0" "50" "15" "72645446" "72645446" "subst" "4.88293E-5" "00002" "HEXA_000003" "g.72645446C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.72353105C>T" "" "VUS" "" "0000116942" "0" "90" "15" "72641494" "72641496" "del" "0" "01400" "HEXA_000005" "g.72641494_72641496del" "" "" "" "915_917delCTT" "" "Germline" "" "" "0" "" "" "g.72349153_72349155del" "" "pathogenic" "" "0000277626" "0" "10" "15" "72638892" "72638892" "subst" "0.971194" "02330" "HEXA_000009" "g.72638892T>C" "" "" "" "HEXA(NM_000520.6):c.1306A>G (p.I436V), HEXA(NM_001318825.1):c.1339A>G (p.I447V), HEXA(NM_001318825.2):c.1339A>G (p.I447V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72346551T>C" "" "benign" "" "0000277627" "0" "10" "15" "72637795" "72637795" "subst" "0.971414" "02330" "HEXA_000006" "g.72637795T>C" "" "" "" "HEXA(NM_000520.6):c.1518A>G (p.E506=), HEXA(NM_001318825.1):c.1551A>G (p.E517=), HEXA(NM_001318825.2):c.1551A>G (p.E517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72345454T>C" "" "benign" "" "0000277628" "0" "10" "15" "72642905" "72642905" "subst" "0.00456849" "02330" "HEXA_000013" "g.72642905C>T" "" "" "" "HEXA(NM_000520.6):c.759G>A (p.V253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72350564C>T" "" "benign" "" "0000277629" "0" "10" "15" "72668305" "72668305" "subst" "0.0412515" "02330" "HEXA_000018" "g.72668305G>A" "" "" "" "HEXA(NM_000520.6):c.9C>T (p.S3=), HEXA(NM_001318825.2):c.9C>T (p.S3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72375964G>A" "" "benign" "" "0000281282" "0" "90" "15" "72640388" "72640388" "subst" "0.00021137" "02325" "HEXA_000001" "g.72640388C>T" "" "" "" "HEXA(NM_000520.6):c.1073+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72348047C>T" "" "pathogenic" "" "0000281283" "0" "10" "15" "72638892" "72638892" "subst" "0.971194" "02325" "HEXA_000009" "g.72638892T>C" "" "" "" "HEXA(NM_000520.6):c.1306A>G (p.I436V), HEXA(NM_001318825.1):c.1339A>G (p.I447V), HEXA(NM_001318825.2):c.1339A>G (p.I447V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72346551T>C" "" "benign" "" "0000281284" "0" "90" "15" "72638575" "72638575" "subst" "0.000118158" "02325" "HEXA_000008" "g.72638575C>G" "" "" "" "HEXA(NM_000520.6):c.1421+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72346234C>G" "" "pathogenic" "" "0000281285" "0" "10" "15" "72637795" "72637795" "subst" "0.971414" "02325" "HEXA_000006" "g.72637795T>C" "" "" "" "HEXA(NM_000520.6):c.1518A>G (p.E506=), HEXA(NM_001318825.1):c.1551A>G (p.E517=), HEXA(NM_001318825.2):c.1551A>G (p.E517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72345454T>C" "" "benign" "" "0000281286" "0" "90" "15" "72645471" "72645471" "subst" "8.12968E-6" "02325" "HEXA_000016" "g.72645471G>A" "" "" "" "HEXA(NM_000520.6):c.508C>T (p.R170W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72353130G>A" "" "pathogenic" "" "0000281287" "0" "90" "15" "72645446" "72645446" "subst" "4.88293E-5" "02325" "HEXA_000003" "g.72645446C>T" "" "" "" "HEXA(NM_000520.6):c.533G>A (p.R178H), HEXA(NM_001318825.1):c.566G>A (p.R189H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72353105C>T" "" "pathogenic" "" "0000281288" "0" "90" "15" "72642915" "72642915" "subst" "0" "02325" "HEXA_000014" "g.72642915C>T" "" "" "" "HEXA(NM_000520.6):c.749G>A (p.G250D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72350574C>T" "" "pathogenic" "" "0000281289" "0" "30" "15" "72642905" "72642905" "subst" "0.00456849" "02325" "HEXA_000013" "g.72642905C>T" "" "" "" "HEXA(NM_000520.6):c.759G>A (p.V253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72350564C>T" "" "likely benign" "" "0000281290" "0" "90" "15" "72642858" "72642858" "subst" "4.06118E-6" "02325" "HEXA_000012" "g.72642858C>T" "" "" "" "HEXA(NM_000520.6):c.805+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72350517C>T" "" "pathogenic" "" "0000281291" "0" "90" "15" "72642859" "72642859" "subst" "0.00013402" "02325" "HEXA_000004" "g.72642859C>T" "" "" "" "HEXA(NM_000520.6):c.805G>A (p.(Gly269Ser), p.G269S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72350518C>T" "" "pathogenic" "" "0000285101" "0" "90" "15" "72637817" "72637817" "subst" "5.6856E-5" "02326" "HEXA_000007" "g.72637817C>T" "" "" "" "HEXA(NM_000520.6):c.1496G>A (p.R499H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72345476C>T" "" "pathogenic" "" "0000289041" "0" "30" "15" "72638982" "72638982" "subst" "0.000154307" "01943" "HEXA_000010" "g.72638982G>A" "" "" "" "HEXA(NM_001318825.1):c.1249C>T (p.L417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72346641G>A" "" "likely benign" "" "0000324175" "0" "30" "15" "72642925" "72642925" "subst" "0.0015756" "01804" "HEXA_000015" "g.72642925G>A" "" "" "" "HEXA(NM_000520.4):c.739C>T (p.(Arg247Trp)), HEXA(NM_000520.6):c.739C>T (p.R247W), HEXA(NM_001318825.1):c.772C>T (p.R258W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72350584G>A" "" "likely benign" "" "0000324176" "0" "50" "15" "72668249" "72668249" "subst" "8.1283E-6" "01804" "HEXA_000017" "g.72668249G>A" "" "" "" "HEXA(NM_000520.4):c.65C>T (p.(Ala22Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72375908G>A" "" "VUS" "" "0000340406" "0" "10" "15" "72668539" "72668539" "subst" "0" "02327" "HEXA_000024" "g.72668539T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72376198T>C" "" "benign" "" "0000340764" "0" "10" "15" "72637795" "72637795" "subst" "0.971414" "02327" "HEXA_000006" "g.72637795T>C" "" "" "" "HEXA(NM_000520.6):c.1518A>G (p.E506=), HEXA(NM_001318825.1):c.1551A>G (p.E517=), HEXA(NM_001318825.2):c.1551A>G (p.E517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72345454T>C" "" "benign" "" "0000341882" "0" "90" "15" "72647903" "72647903" "subst" "2.43726E-5" "02327" "HEXA_000022" "g.72647903G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72355562G>A" "" "pathogenic" "" "0000346111" "0" "90" "15" "72637881" "72637881" "subst" "0" "02327" "HEXA_000019" "g.72637881C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72345540C>T" "" "pathogenic" "" "0000346732" "0" "10" "15" "72638892" "72638892" "subst" "0.971194" "02327" "HEXA_000009" "g.72638892T>C" "" "" "" "HEXA(NM_000520.6):c.1306A>G (p.I436V), HEXA(NM_001318825.1):c.1339A>G (p.I447V), HEXA(NM_001318825.2):c.1339A>G (p.I447V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72346551T>C" "" "benign" "" "0000348422" "0" "70" "15" "72639044" "72639044" "subst" "4.06128E-6" "02327" "HEXA_000021" "g.72639044G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72346703G>A" "" "likely pathogenic" "" "0000349853" "0" "90" "15" "72668080" "72668080" "subst" "0" "02327" "HEXA_000023" "g.72668080C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72375739C>T" "" "pathogenic" "" "0000350090" "0" "90" "15" "72638921" "72638924" "dup" "0" "02327" "HEXA_000020" "g.72638921_72638924dup" "" "" "" "HEXA(NM_000520.4):c.1277_1278insTATC (p.(Tyr427IlefsTer5)), HEXA(NM_001318825.1):c.1307_1310dupTATC (p.Y438Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72346580_72346583dup" "" "pathogenic" "" "0000555318" "0" "30" "15" "72636487" "72636487" "subst" "0.00121875" "02330" "HEXA_000025" "g.72636487A>G" "" "" "" "HEXA(NM_000520.6):c.1527-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72344146A>G" "" "likely benign" "" "0000555319" "0" "50" "15" "72637823" "72637823" "subst" "4.46708E-5" "02325" "HEXA_000026" "g.72637823T>C" "" "" "" "HEXA(NM_000520.5):c.1490A>G (p.Y497C), HEXA(NM_000520.6):c.1490A>G (p.Y497C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72345482T>C" "" "VUS" "" "0000555320" "0" "30" "15" "72637870" "72637870" "subst" "6.49868E-5" "01943" "HEXA_000027" "g.72637870G>A" "" "" "" "HEXA(NM_001318825.1):c.1476C>T (p.A492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72345529G>A" "" "likely benign" "" "0000555322" "0" "30" "15" "72638659" "72638659" "subst" "0.000260436" "02325" "HEXA_000029" "g.72638659A>G" "" "" "" "HEXA(NM_000520.6):c.1338T>C (p.P446=), HEXA(NM_001318825.1):c.1371T>C (p.P457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72346318A>G" "" "likely benign" "" "0000555323" "0" "30" "15" "72640066" "72640066" "subst" "0.000836487" "02330" "HEXA_000030" "g.72640066G>A" "" "" "" "HEXA(NM_000520.6):c.1107C>T (p.G369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72347725G>A" "" "likely benign" "" "0000555325" "0" "50" "15" "72642918" "72642918" "subst" "0" "01943" "HEXA_000032" "g.72642918C>T" "" "" "" "HEXA(NM_001318825.1):c.779G>A (p.R260Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72350577C>T" "" "VUS" "" "0000555326" "0" "90" "15" "72642919" "72642919" "subst" "0.000203047" "02325" "HEXA_000033" "g.72642919G>A" "" "" "" "HEXA(NM_000520.6):c.745C>T (p.R249W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72350578G>A" "" "pathogenic" "" "0000555327" "0" "50" "15" "72642925" "72642925" "subst" "0.0015756" "01943" "HEXA_000015" "g.72642925G>A" "" "" "" "HEXA(NM_000520.4):c.739C>T (p.(Arg247Trp)), HEXA(NM_000520.6):c.739C>T (p.R247W), HEXA(NM_001318825.1):c.772C>T (p.R258W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72350584G>A" "" "VUS" "" "0000555328" "0" "30" "15" "72642925" "72642925" "subst" "0.0015756" "02325" "HEXA_000015" "g.72642925G>A" "" "" "" "HEXA(NM_000520.4):c.739C>T (p.(Arg247Trp)), HEXA(NM_000520.6):c.739C>T (p.R247W), HEXA(NM_001318825.1):c.772C>T (p.R258W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72350584G>A" "" "likely benign" "" "0000555329" "0" "10" "15" "72643444" "72643444" "subst" "0.0192461" "02326" "HEXA_000034" "g.72643444A>C" "" "" "" "HEXA(NM_001318825.2):c.705+30T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72351103A>C" "" "benign" "" "0000555330" "0" "50" "15" "72645431" "72645431" "subst" "0.00038622" "02325" "HEXA_000035" "g.72645431A>T" "" "" "" "HEXA(NM_000520.6):c.548T>A (p.L183H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72353090A>T" "" "VUS" "" "0000555331" "0" "90" "15" "72668313" "72668313" "subst" "0" "02329" "HEXA_000036" "g.72668313T>A" "" "" "" "HEXA(NM_000520.6):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72375972T>A" "" "pathogenic" "" "0000615489" "0" "70" "15" "72638921" "72638924" "dup" "0" "01804" "HEXA_000020" "g.72638921_72638924dup" "" "" "" "HEXA(NM_000520.4):c.1277_1278insTATC (p.(Tyr427IlefsTer5)), HEXA(NM_001318825.1):c.1307_1310dupTATC (p.Y438Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72346580_72346583dup" "" "likely pathogenic" "" "0000615491" "0" "30" "15" "72668306" "72668306" "subst" "0.000465006" "01943" "HEXA_000037" "g.72668306C>G" "" "" "" "HEXA(NM_001318825.1):c.8G>C (p.S3T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72375965C>G" "" "likely benign" "" "0000624924" "0" "90" "15" "72640388" "72640388" "subst" "0.00021137" "01164" "HEXA_000001" "g.72640388C>T" "" "" "" "" "ACMG: PVS1,PM2,PM3; phase unknown, sister also affected" "Germline" "" "rs76173977" "0" "" "" "g.72348047C>T" "" "pathogenic" "ACMG" "0000624925" "0" "90" "15" "72638893" "72638893" "subst" "8.12427E-5" "01164" "HEXA_000038" "g.72638893G>A" "" "" "" "" "ACMG: PS3,PM2,PM3,PP4,PP5; phase unknown, sister also affected; Levit et al. 2010. Mol Genet Metab. 100: 176" "Germline" "" "rs587779406" "0" "" "" "g.72346552G>A" "" "pathogenic" "ACMG" "0000649149" "1" "30" "15" "72637878" "72637878" "subst" "0.000836779" "03575" "HEXA_000039" "g.72637878C>T" "39/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "39 heterozygous; {DB:CLININrs145012038}" "Germline" "" "rs145012038" "0" "" "" "g.72345537C>T" "" "likely benign" "" "0000649151" "1" "50" "15" "72639020" "72639020" "subst" "0.000101522" "03575" "HEXA_000040" "g.72639020C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs370266293}" "Germline" "" "rs370266293" "0" "" "" "g.72346679C>T" "" "VUS" "" "0000653455" "3" "90" "15" "72642859" "72642859" "subst" "0.00013402" "01164" "HEXA_000004" "g.72642859C>T" "" "" "" "" "Navon et al. 1989. Science 243: 1471" "Germline" "" "rs121907954" "0" "" "" "g.72350518C>T" "" "pathogenic" "ACMG" "0000669295" "3" "30" "15" "72637878" "72637878" "subst" "0.000836779" "03575" "HEXA_000039" "g.72637878C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs145012038}" "Germline" "" "rs145012038" "0" "" "" "g.72345537C>T" "" "likely benign" "" "0000680268" "0" "30" "15" "72639016" "72639016" "subst" "4.06081E-6" "01943" "HEXA_000041" "g.72639016C>G" "" "" "" "HEXA(NM_001318825.1):c.1215G>C (p.E405D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683315" "1" "70" "15" "72647903" "72647903" "subst" "2.43726E-5" "00006" "HEXA_000022" "g.72647903G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline" "" "rs121907962" "0" "" "" "g.72355562G>A" "" "likely pathogenic (recessive)" "" "0000683396" "2" "70" "15" "72639044" "72639044" "subst" "4.06128E-6" "00006" "HEXA_000021" "g.72639044G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline" "" "" "0" "" "" "g.72346703G>A" "" "likely pathogenic (recessive)" "" "0000691845" "0" "90" "15" "72638921" "72638924" "dup" "0" "01943" "HEXA_000002" "g.72638921_72638924dup" "" "" "" "HEXA(NM_000520.4):c.1277_1278insTATC (p.(Tyr427IlefsTer5)), HEXA(NM_001318825.1):c.1307_1310dupTATC (p.Y438Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691846" "0" "70" "15" "72643556" "72643556" "subst" "8.12176E-6" "02327" "HEXA_000042" "g.72643556T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691847" "0" "70" "15" "72645446" "72645446" "subst" "4.88293E-5" "02327" "HEXA_000003" "g.72645446C>T" "" "" "" "HEXA(NM_000520.6):c.533G>A (p.R178H), HEXA(NM_001318825.1):c.566G>A (p.R189H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725283" "0" "50" "15" "72637823" "72637823" "subst" "4.46708E-5" "01943" "HEXA_000026" "g.72637823T>C" "" "" "" "HEXA(NM_000520.5):c.1490A>G (p.Y497C), HEXA(NM_000520.6):c.1490A>G (p.Y497C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725284" "0" "30" "15" "72638659" "72638659" "subst" "0.000260436" "01943" "HEXA_000029" "g.72638659A>G" "" "" "" "HEXA(NM_000520.6):c.1338T>C (p.P446=), HEXA(NM_001318825.1):c.1371T>C (p.P457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725285" "0" "30" "15" "72648985" "72648985" "subst" "0.000286293" "01943" "HEXA_000043" "g.72648985G>A" "" "" "" "HEXA(NM_001318825.1):c.260C>T (p.P87L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725286" "0" "30" "15" "72668304" "72668304" "subst" "0.000150816" "01943" "HEXA_000044" "g.72668304A>G" "" "" "" "HEXA(NM_000520.6):c.10T>C (p.(Ser4Pro)), HEXA(NM_001318825.1):c.10T>C (p.S4P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000764793" "3" "90" "15" "72643524" "72643524" "del" "0" "04054" "HEXA_000045" "g.72643524del" "" "Abtahi2021 submitted" "" "622delG" "" "Germline" "" "" "0" "" "" "g.72351183del" "" "pathogenic" "" "0000784041" "21" "90" "15" "72668159" "72668159" "subst" "1.21836E-5" "00006" "HEXA_000046" "g.72668159G>T" "" "{DOI:Voisin 2021:33961779}, {DOI:Voisin 2021:10.1016/j.ajhg.2021.04.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000786886" "3" "90" "15" "72641442" "72641442" "subst" "8.12262E-6" "00006" "HEXA_000048" "g.72641442C>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.72349101C>A" "" "pathogenic" "" "0000786887" "3" "70" "15" "72637869" "72637869" "subst" "8.12315E-6" "00006" "HEXA_000047" "g.72637869C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.72345528C>T" "" "likely pathogenic" "" "0000806895" "0" "50" "15" "72645446" "72645446" "subst" "4.88293E-5" "01943" "HEXA_000003" "g.72645446C>T" "" "" "" "HEXA(NM_000520.6):c.533G>A (p.R178H), HEXA(NM_001318825.1):c.566G>A (p.R189H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000831001" "0" "90" "15" "72640388" "72640388" "subst" "0.00021137" "01164" "HEXA_000001" "g.72640388C>T" "" "PMID: 8490625, 1387685, 19858779, 8444467, 1301938" "" "" "ACMG: PVS1, PS4, PM3, PM2_SUP, PP1" "Germline" "?" "" "" "" "" "" "Variation ID: 3920" "pathogenic (recessive)" "ACMG" "0000831002" "0" "90" "15" "72642859" "72642859" "subst" "0.00013402" "01164" "HEXA_000004" "g.72642859C>T" "" "PMID: 2522679, 2220809, 2522679, 20363167" "" "" "ACMG: PS3, PS4, PM3, PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "Variation ID: 3898" "pathogenic (recessive)" "ACMG" "0000854152" "0" "50" "15" "72641459" "72641459" "subst" "0" "01943" "HEXA_000049" "g.72641459T>G" "" "" "" "HEXA(NM_001318825.1):c.980A>C (p.Y327S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863947" "0" "10" "15" "72637795" "72637795" "subst" "0.971414" "01943" "HEXA_000006" "g.72637795T>C" "" "" "" "HEXA(NM_000520.6):c.1518A>G (p.E506=), HEXA(NM_001318825.1):c.1551A>G (p.E517=), HEXA(NM_001318825.2):c.1551A>G (p.E517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863948" "0" "10" "15" "72638892" "72638892" "subst" "0.971194" "01943" "HEXA_000009" "g.72638892T>C" "" "" "" "HEXA(NM_000520.6):c.1306A>G (p.I436V), HEXA(NM_001318825.1):c.1339A>G (p.I447V), HEXA(NM_001318825.2):c.1339A>G (p.I447V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863949" "0" "30" "15" "72648740" "72648740" "subst" "0" "01943" "HEXA_000050" "g.72648740G>A" "" "" "" "HEXA(NM_001318825.1):c.379+126C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863950" "0" "30" "15" "72663049" "72663050" "ins" "0" "01943" "HEXA_000051" "g.72663049_72663050insAGAAAAAAAAAAA" "" "" "" "HEXA(NM_001318825.1):c.253+5022_253+5023insCTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863951" "0" "10" "15" "72668305" "72668305" "subst" "0.0412515" "02327" "HEXA_000018" "g.72668305G>A" "" "" "" "HEXA(NM_000520.6):c.9C>T (p.S3=), HEXA(NM_001318825.2):c.9C>T (p.S3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000873896" "11" "70" "15" "72642859" "72642859" "subst" "0.00013402" "00000" "HEXA_000004" "g.72642859C>T" "" "{PMID:Bell 2011:21228398}" "" "HEXA exon 7, c.805G>A, G269S, chr15:70429913G>A (hg18) CM890061" "causative, compound heterozygous" "Germline" "?" "" "0" "" "" "g.72350518C>T" "" "likely pathogenic" "" "0000873922" "21" "70" "15" "72638921" "72638924" "dup" "0" "00000" "HEXA_000002" "g.72638921_72638924dup" "" "{PMID:Bell 2011:21228398}" "" "HEXA exon 11, c.1277_1278insTATC, Y427fs" "causative, compound heterozygous" "Germline" "?" "" "0" "" "" "g.72346580_72346583dup" "" "likely pathogenic" "" "0000892229" "0" "90" "15" "72638612" "72638612" "subst" "4.06484E-6" "02325" "HEXA_000052" "g.72638612T>A" "" "" "" "HEXA(NM_000520.6):c.1385A>T (p.E462V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892230" "0" "90" "15" "72638993" "72638995" "del" "0" "02327" "HEXA_000053" "g.72638993_72638995del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892231" "0" "90" "15" "72640388" "72640388" "subst" "0.00021137" "02327" "HEXA_000001" "g.72640388C>T" "" "" "" "HEXA(NM_000520.6):c.1073+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000906107" "1" "90" "15" "72640388" "72640388" "subst" "0.00021137" "00006" "HEXA_000001" "g.72640388C>T" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.72348047C>T" "" "pathogenic (recessive)" "" "0000906165" "0" "90" "15" "72642925" "72642925" "subst" "0.0015756" "00006" "HEXA_000015" "g.72642925G>A" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "De novo" "" "" "0" "" "" "g.72350584G>A" "" "pathogenic (recessive)" "" "0000914350" "0" "10" "15" "72637795" "72637795" "subst" "0.971414" "02329" "HEXA_000006" "g.72637795T>C" "" "" "" "HEXA(NM_000520.6):c.1518A>G (p.E506=), HEXA(NM_001318825.1):c.1551A>G (p.E517=), HEXA(NM_001318825.2):c.1551A>G (p.E517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914351" "0" "10" "15" "72638892" "72638892" "subst" "0.971194" "02329" "HEXA_000009" "g.72638892T>C" "" "" "" "HEXA(NM_000520.6):c.1306A>G (p.I436V), HEXA(NM_001318825.1):c.1339A>G (p.I447V), HEXA(NM_001318825.2):c.1339A>G (p.I447V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000921750" "21" "70" "15" "72641450" "72641450" "subst" "0" "01164" "HEXA_000054" "g.72641450A>C" "" "" "" "" "ACMG: PP3_STR, PM3, PM2_SUP" "Germline" "-" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000921751" "11" "70" "15" "72640051" "72640051" "del" "0" "01164" "HEXA_000055" "g.72640051del" "" "PMID: 16088929, 23820084, 31076878" "" "" "ACMG: PVS1, PM3_STR, PM2_SUP" "Germline" "-" "" "0" "" "" "g.72347710del" "" "pathogenic (recessive)" "ACMG" "0000926025" "0" "10" "15" "72668305" "72668305" "subst" "0.0412515" "02329" "HEXA_000018" "g.72668305G>A" "" "" "" "HEXA(NM_000520.6):c.9C>T (p.S3=), HEXA(NM_001318825.2):c.9C>T (p.S3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950434" "0" "90" "15" "72638612" "72638612" "subst" "4.06484E-6" "02327" "HEXA_000052" "g.72638612T>A" "" "" "" "HEXA(NM_000520.6):c.1385A>T (p.E462V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000967919" "0" "10" "15" "72639003" "72639003" "subst" "0.00879181" "02329" "HEXA_000056" "g.72639003T>C" "" "" "" "HEXA(NM_001318825.2):c.1228A>G (p.N410D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967920" "0" "70" "15" "72640072" "72640072" "subst" "0" "02327" "HEXA_000057" "g.72640072G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981390" "0" "50" "15" "72637850" "72637850" "subst" "0" "01804" "HEXA_000058" "g.72637850T>G" "" "" "" "HEXA(NM_000520.6):c.1463A>C (p.(Lys488Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981391" "0" "90" "15" "72640388" "72640388" "subst" "0.00021137" "01804" "HEXA_000001" "g.72640388C>T" "" "" "" "HEXA(NM_000520.6):c.1073+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981392" "0" "50" "15" "72641570" "72641570" "subst" "0.000113835" "01804" "HEXA_000059" "g.72641570G>C" "" "" "" "HEXA(NM_000520.6):c.836C>G (p.(Ser279Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985347" "0" "70" "15" "72643535" "72643535" "subst" "0" "03544" "HEXA_000060" "g.72643535T>C" "" "" "" "" "" "Germline" "yes" "rs121907976" "0" "" "" "g.72351194T>C" "{CV:3931}" "pathogenic" "ACMG" "0000985348" "0" "70" "15" "72642859" "72642859" "subst" "0.00013402" "03544" "HEXA_000004" "g.72642859C>T" "" "" "" "" "" "Germline" "yes" "rs121907954" "0" "" "" "g.72350518C>T" "3898" "pathogenic" "ACMG" "0001001639" "0" "70" "15" "72641442" "72641442" "subst" "8.12262E-6" "02327" "HEXA_000048" "g.72641442C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001640" "0" "70" "15" "72645470" "72645470" "subst" "0" "02327" "HEXA_000061" "g.72645470C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001007093" "3" "90" "15" "72637804" "72637804" "del" "0" "00006" "HEXA_000062" "g.72637804del" "" "{PMID:Lau 1989:2531748}" "" "" "truncated HEXA retained and degraded in an early compartment, presumablythe endoplasmic reticulum" "Germline" "" "" "0" "" "" "g.72345463del" "" "pathogenic (recessive)" "" "0001012394" "3" "90" "15" "72645446" "72645446" "subst" "4.88293E-5" "00006" "HEXA_000003" "g.72645446C>T" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.72353105C>T" "" "pathogenic (recessive)" "" "0001012395" "1" "90" "15" "72637817" "72637817" "subst" "5.6856E-5" "00006" "HEXA_000007" "g.72637817C>T" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.72345476C>T" "" "pathogenic (recessive)" "" "0001012397" "1" "90" "15" "72668159" "72668159" "subst" "1.21836E-5" "00006" "HEXA_000046" "g.72668159G>T" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.72375818G>T" "" "pathogenic (recessive)" "" "0001012400" "1" "90" "15" "72642945" "72642946" "ins" "0" "00006" "HEXA_000064" "g.72642945_72642946insA" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.72350604_72350605insA" "" "pathogenic (recessive)" "" "0001012407" "1" "90" "15" "72646027" "72646027" "subst" "2.84352E-5" "00006" "HEXA_000065" "g.72646027C>T" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.72353686C>T" "" "pathogenic (recessive)" "" "0001012436" "2" "90" "15" "72640459" "72640459" "subst" "0" "00006" "HEXA_000063" "g.72640459T>A" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.72348118T>A" "" "pathogenic (recessive)" "" "0001012438" "2" "90" "15" "72638893" "72638893" "subst" "8.12427E-5" "00006" "HEXA_000038" "g.72638893G>A" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.72346552G>A" "" "pathogenic (recessive)" "" "0001012440" "2" "90" "15" "72640459" "72640459" "subst" "0" "00006" "HEXA_000063" "g.72640459T>A" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.72348118T>A" "" "pathogenic (recessive)" "" "0001012443" "2" "90" "15" "72645446" "72645446" "subst" "4.88293E-5" "00006" "HEXA_000003" "g.72645446C>T" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.72353105C>T" "" "pathogenic (recessive)" "" "0001040542" "0" "50" "15" "72640420" "72640420" "subst" "2.84278E-5" "01804" "HEXA_000066" "g.72640420A>C" "" "" "" "HEXA(NM_000520.6):c.1042T>G (p.(Phe348Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040543" "0" "50" "15" "72668304" "72668304" "subst" "0.000150816" "01804" "HEXA_000044" "g.72668304A>G" "" "" "" "HEXA(NM_000520.6):c.10T>C (p.(Ser4Pro)), HEXA(NM_001318825.1):c.10T>C (p.S4P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055186" "0" "50" "15" "72648998" "72648998" "subst" "1.24307E-5" "01804" "HEXA_000067" "g.72648998T>C" "" "" "" "HEXA(NM_001318825.2):c.254-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055187" "0" "50" "15" "72668149" "72668149" "subst" "4.06124E-6" "01804" "HEXA_000068" "g.72668149C>G" "" "" "" "HEXA(NM_000520.6):c.165G>C (p.(Gln55His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058760" "3" "90" "15" "72668312" "72668312" "subst" "0" "00006" "HEXA_000069" "g.72668312A>G" "" "{PMID:Retterer 2016:26633542}" "" "" "" "Germline" "" "" "0" "" "" "g.72375971A>G" "" "pathogenic (recessive)" "" "0001066266" "0" "90" "15" "72642859" "72642859" "subst" "0.00013402" "01804" "HEXA_000004" "g.72642859C>T" "" "" "" "HEXA(NM_000520.6):c.805G>A (p.(Gly269Ser), p.G269S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 HEXA ## Count = 110 "{{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}}" "0000000559" "00000094" "50" "1073" "1" "1073" "1" "c.1073+1G>A" "r.(=)" "p.(=)" "" "0000000561" "00000094" "50" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" "0000116942" "00000094" "90" "915" "0" "917" "0" "c.915_917del" "r.(?)" "p.(Phe305del)" "8" "0000277626" "00000094" "10" "1306" "0" "1306" "0" "c.1306A>G" "r.(?)" "p.(Ile436Val)" "" "0000277627" "00000094" "10" "1518" "0" "1518" "0" "c.1518A>G" "r.(?)" "p.(Glu506=)" "" "0000277628" "00000094" "10" "759" "0" "759" "0" "c.759G>A" "r.(?)" "p.(Val253=)" "" "0000277629" "00000094" "10" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Ser3=)" "" "0000281282" "00000094" "90" "1073" "1" "1073" "1" "c.1073+1G>A" "r.spl?" "p.?" "" "0000281283" "00000094" "10" "1306" "0" "1306" "0" "c.1306A>G" "r.(?)" "p.(Ile436Val)" "" "0000281284" "00000094" "90" "1421" "1" "1421" "1" "c.1421+1G>C" "r.spl?" "p.?" "" "0000281285" "00000094" "10" "1518" "0" "1518" "0" "c.1518A>G" "r.(?)" "p.(Glu506=)" "" "0000281286" "00000094" "90" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Arg170Trp)" "" "0000281287" "00000094" "90" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" "0000281288" "00000094" "90" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Gly250Asp)" "" "0000281289" "00000094" "30" "759" "0" "759" "0" "c.759G>A" "r.(?)" "p.(Val253=)" "" "0000281290" "00000094" "90" "805" "1" "805" "1" "c.805+1G>A" "r.spl?" "p.?" "" "0000281291" "00000094" "90" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Ser)" "" "0000285101" "00000094" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Arg499His)" "" "0000289041" "00000094" "30" "1216" "0" "1216" "0" "c.1216C>T" "r.(?)" "p.(Leu406=)" "" "0000324175" "00000094" "30" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Trp)" "" "0000324176" "00000094" "50" "65" "0" "65" "0" "c.65C>T" "r.(?)" "p.(Ala22Val)" "" "0000340406" "00000094" "10" "-226" "0" "-226" "0" "c.-226A>G" "r.(?)" "p.(=)" "" "0000340764" "00000094" "10" "1518" "0" "1518" "0" "c.1518A>G" "r.(?)" "p.(Glu506=)" "" "0000341882" "00000094" "90" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137Ter)" "" "0000346111" "00000094" "90" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Gly478Arg)" "" "0000346732" "00000094" "10" "1306" "0" "1306" "0" "c.1306A>G" "r.(?)" "p.(Ile436Val)" "" "0000348422" "00000094" "70" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Pro385Leu)" "" "0000349853" "00000094" "90" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Trp78Ter)" "" "0000350090" "00000094" "90" "1274" "0" "1277" "0" "c.1274_1277dup" "r.(?)" "p.(Tyr427IlefsTer5)" "" "0000555318" "00000094" "30" "1527" "-6" "1527" "-6" "c.1527-6T>C" "r.(=)" "p.(=)" "" "0000555319" "00000094" "50" "1490" "0" "1490" "0" "c.1490A>G" "r.(?)" "p.(Tyr497Cys)" "" "0000555320" "00000094" "30" "1443" "0" "1443" "0" "c.1443C>T" "r.(?)" "p.(Ala481=)" "" "0000555322" "00000094" "30" "1338" "0" "1338" "0" "c.1338T>C" "r.(?)" "p.(Pro446=)" "" "0000555323" "00000094" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Gly369=)" "" "0000555325" "00000094" "50" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249Gln)" "" "0000555326" "00000094" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249Trp)" "" "0000555327" "00000094" "50" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Trp)" "" "0000555328" "00000094" "30" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Trp)" "" "0000555329" "00000094" "10" "672" "30" "672" "30" "c.672+30T>G" "r.(=)" "p.(=)" "" "0000555330" "00000094" "50" "548" "0" "548" "0" "c.548T>A" "r.(?)" "p.(Leu183His)" "" "0000555331" "00000094" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000615489" "00000094" "70" "1274" "0" "1277" "0" "c.1274_1277dup" "r.(?)" "p.(Tyr427IlefsTer5)" "" "0000615491" "00000094" "30" "8" "0" "8" "0" "c.8G>C" "r.(?)" "p.(Ser3Thr)" "" "0000624924" "00000094" "90" "1073" "1" "1073" "1" "c.1073+1G>A" "r.(?)" "p.(?)" "" "0000624925" "00000094" "90" "1305" "0" "1305" "0" "c.1305C>T" "r.(?)" "p.(Tyr435Tyr)" "" "0000649149" "00000094" "30" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Ala479Thr)" "" "0000649151" "00000094" "50" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393Gln)" "" "0000653455" "00000094" "90" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Ser)" "" "0000669295" "00000094" "30" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Ala479Thr)" "" "0000680268" "00000094" "30" "1182" "0" "1182" "0" "c.1182G>C" "r.(?)" "p.(Glu394Asp)" "" "0000683315" "00000094" "70" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137*)" "" "0000683396" "00000094" "70" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Pro385Leu)" "" "0000691845" "00000094" "90" "1274" "0" "1277" "0" "c.1274_1277dup" "r.(?)" "p.(Tyr427IlefsTer5)" "" "0000691846" "00000094" "70" "590" "0" "590" "0" "c.590A>C" "r.(?)" "p.(Lys197Thr)" "" "0000691847" "00000094" "70" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" "0000725283" "00000094" "50" "1490" "0" "1490" "0" "c.1490A>G" "r.(?)" "p.(Tyr497Cys)" "" "0000725284" "00000094" "30" "1338" "0" "1338" "0" "c.1338T>C" "r.(?)" "p.(Pro446=)" "" "0000725285" "00000094" "30" "254" "-27" "254" "-27" "c.254-27C>T" "r.(=)" "p.(=)" "" "0000725286" "00000094" "30" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Ser4Pro)" "" "0000764793" "00000094" "90" "622" "0" "622" "0" "c.622del" "r.(?)" "p.(Asp208Ilefs*15)" "6" "0000784041" "00000094" "90" "155" "0" "155" "0" "c.155C>A" "r.(?)" "p.(Ser52*)" "" "0000786886" "00000094" "90" "964" "0" "964" "0" "c.964G>T" "r.(?)" "p.(Asp322Tyr)" "8" "0000786887" "00000094" "70" "1444" "0" "1444" "0" "c.1444G>A" "r.(?)" "p.(Glu482Lys)" "13" "0000806895" "00000094" "50" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" "0000831001" "00000094" "90" "1073" "1" "1073" "1" "c.1073+1G>A" "r.spl?" "p.?" "" "0000831002" "00000094" "90" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Ser)" "" "0000854152" "00000094" "50" "947" "0" "947" "0" "c.947A>C" "r.(?)" "p.(Tyr316Ser)" "" "0000863947" "00000094" "10" "1518" "0" "1518" "0" "c.1518A>G" "r.(?)" "p.(Glu506=)" "" "0000863948" "00000094" "10" "1306" "0" "1306" "0" "c.1306A>G" "r.(?)" "p.(Ile436Val)" "" "0000863949" "00000094" "30" "346" "126" "346" "126" "c.346+126C>T" "r.(=)" "p.(=)" "" "0000863950" "00000094" "30" "253" "5022" "253" "5023" "c.253+5022_253+5023insCTTTTTTTTTTTT" "r.(=)" "p.(=)" "" "0000863951" "00000094" "10" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Ser3=)" "" "0000873896" "00000094" "70" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Ser)" "" "0000873922" "00000094" "70" "1274" "0" "1277" "0" "c.1274_1277dup" "r.(?)" "p.(Tyr427Ilefs*5)" "" "0000892229" "00000094" "90" "1385" "0" "1385" "0" "c.1385A>T" "r.(?)" "p.(Glu462Val)" "" "0000892230" "00000094" "90" "1204" "0" "1206" "0" "c.1204_1206del" "r.(?)" "p.(Lys402del)" "" "0000892231" "00000094" "90" "1073" "1" "1073" "1" "c.1073+1G>A" "r.spl?" "p.?" "" "0000906107" "00000094" "90" "1073" "1" "1073" "1" "c.1073+1G>A" "r.spl" "p.?" "" "0000906165" "00000094" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Trp)" "" "0000914350" "00000094" "10" "1518" "0" "1518" "0" "c.1518A>G" "r.(?)" "p.(Glu506=)" "" "0000914351" "00000094" "10" "1306" "0" "1306" "0" "c.1306A>G" "r.(?)" "p.(Ile436Val)" "" "0000921750" "00000094" "70" "956" "0" "956" "0" "c.956T>G" "r.(?)" "p.(Leu319Arg)" "" "0000921751" "00000094" "70" "1123" "0" "1123" "0" "c.1123del" "r.(?)" "p.(Glu375Argfs*7)" "" "0000926025" "00000094" "10" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Ser3=)" "" "0000950434" "00000094" "90" "1385" "0" "1385" "0" "c.1385A>T" "r.(?)" "p.(Glu462Val)" "" "0000967919" "00000094" "10" "1195" "0" "1195" "0" "c.1195A>G" "r.(?)" "p.(Asn399Asp)" "" "0000967920" "00000094" "70" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(=)" "" "0000981390" "00000094" "50" "1463" "0" "1463" "0" "c.1463A>C" "r.(?)" "p.(Lys488Thr)" "" "0000981391" "00000094" "90" "1073" "1" "1073" "1" "c.1073+1G>A" "r.spl?" "p.?" "" "0000981392" "00000094" "50" "836" "0" "836" "0" "c.836C>G" "r.(?)" "p.(Ser279Cys)" "" "0000985347" "00000094" "70" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(His204Arg)" "6" "0000985348" "00000094" "70" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Ser)" "7" "0001001639" "00000094" "70" "964" "0" "964" "0" "c.964G>T" "r.(?)" "p.(Asp322Tyr)" "" "0001001640" "00000094" "70" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170Gln)" "" "0001007093" "00000094" "90" "1510" "0" "1510" "0" "c.1510del" "r.1510del" "p.Arg504Alafs*5" "" "0001012394" "00000094" "90" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" "0001012395" "00000094" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Arg499His)" "" "0001012397" "00000094" "90" "155" "0" "155" "0" "c.155C>A" "r.(?)" "p.(Ser52Ter)" "" "0001012400" "00000094" "90" "718" "0" "719" "0" "c.718_719insT" "r.(?)" "p.(Lys240IlefsTer5)" "" "0001012407" "00000094" "90" "459" "5" "459" "5" "c.459+5G>A" "r.spl" "p.?" "" "0001012436" "00000094" "90" "1003" "0" "1003" "0" "c.1003A>T" "r.(?)" "p.(Ile335Phe)" "" "0001012438" "00000094" "90" "1305" "0" "1305" "0" "c.1305C>T" "r.(?)" "p.(Tyr435=)" "" "0001012440" "00000094" "90" "1003" "0" "1003" "0" "c.1003A>T" "r.(?)" "p.(Ile335Phe)" "" "0001012443" "00000094" "90" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" "0001040542" "00000094" "50" "1042" "0" "1042" "0" "c.1042T>G" "r.(?)" "p.(Phe348Val)" "" "0001040543" "00000094" "50" "10" "0" "10" "0" "c.10T>C" "r.(?)" "p.(Ser4Pro)" "" "0001055186" "00000094" "50" "254" "-40" "254" "-40" "c.254-40A>G" "r.(=)" "p.(=)" "" "0001055187" "00000094" "50" "165" "0" "165" "0" "c.165G>C" "r.(?)" "p.(Gln55His)" "" "0001058760" "00000094" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0001066266" "00000094" "90" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{variantid}}" "0000000069" "0000000559" "0000000069" "0000000561" "0000073309" "0000116942" "0000271073" "0000624924" "0000271073" "0000624925" "0000292460" "0000649149" "0000292462" "0000649151" "0000296750" "0000653455" "0000305607" "0000669295" "0000308881" "0000683315" "0000308881" "0000683396" "0000363961" "0000764793" "0000373787" "0000784041" "0000375535" "0000786886" "0000375536" "0000786887" "0000398768" "0000831001" "0000398768" "0000831002" "0000415987" "0000873896" "0000415987" "0000873922" "0000428382" "0000906107" "0000428382" "0000906165" "0000435601" "0000921750" "0000435601" "0000921751" "0000451455" "0000985347" "0000451455" "0000985348" "0000455093" "0001007093" "0000457847" "0001012394" "0000457848" "0001012395" "0000457848" "0001012436" "0000457850" "0001012397" "0000457850" "0001012438" "0000457853" "0001012400" "0000457853" "0001012440" "0000457860" "0001012407" "0000457860" "0001012443" "0000470568" "0001058760"