### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC2A1) # 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}}" "SLC2A1" "solute carrier family 2 (facilitated glucose transporter), member 1" "1" "p34.2" "unknown" "NG_008232.1" "UD_132084413077" "" "http://www.LOVD.nl/SLV2A1" "" "1" "11005" "6513" "138140" "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/SLC2A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-09 14:59:27" "00000" "2025-07-08 13:22:38" ## 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}}" "00018992" "SLC2A1" "solute carrier family 2 (facilitated glucose transporter), member 1" "001" "NM_006516.2" "" "NP_006507.2" "" "" "" "-525" "3145" "1479" "43424847" "43391046" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{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" "00544" "GLUT1DS1" "GLUT1 deficiency syndrome, type 1, infantile onset, severe (GLUT1DS-1)" "AD;AR" "606777" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00545" "GLUT1DS2;DYT18" "GLUT1 deficiency syndrome, type 2, childhood onset (GLUT1DS-2, dystonia type 18 (DYT-18))" "AD" "612126" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00546" "DYT9" "dystonia, type 9 (DYT-9)" "AD" "601042" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03749" "EIG12" "epilepsy, idiopathic, generalized, susceptibility to, type 12 (EIG-12)" "AD" "614847" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05216" "SDCHCN" "cryohydrocytosis, stomatin-deficient, with neurologic defects (SDCHCN)" "AD" "608885" "" "" "" "00006" "2017-01-17 16:42:48" "00006" "2021-12-10 21:51:32" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "SLC2A1" "00139" "SLC2A1" "00544" "SLC2A1" "00545" "SLC2A1" "00546" "SLC2A1" "03749" "SLC2A1" "05216" ## Individuals ## Do not remove or alter this header ## ## Count = 72 "{{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}}" "00037103" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037104" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037105" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037106" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037107" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037108" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037109" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037110" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037111" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037112" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037113" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037114" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037115" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037116" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037117" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037118" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037119" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037120" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037121" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037122" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037123" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037124" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037125" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037126" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037127" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037128" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037129" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037130" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037131" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037132" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037133" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037134" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037135" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037136" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050614" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080889" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00081421" "" "" "" "1" "" "01479" "" "" "F" "-" "Netherlands" "" "0" "" "" "white" "" "00100280" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00116819" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_130:0/1:CONTROL" "00116885" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_273:0/1:CONTROL" "00116951" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_427:0/1:CONTROL" "00117042" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_606:0/1:TYPICAL_RE" "00180175" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat27" "00206816" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00234402" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00275581" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00289842" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289843" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289844" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295755" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00296768" "" "" "" "1" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "APN-38" "00296786" "" "" "" "2" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients; 2-generation family, affected male twins, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "APN-131" "00299446" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00306011" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Denmark" "" "0" "" "" "" "Pat42" "00307814" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411433" "00307815" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411433" "00307816" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410904" "00374499" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5628" "00374500" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1891" "00374501" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3231" "00374502" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-221" "00374503" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4302" "00374857" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4971" "00374858" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-993" "00374859" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-1079" "00403042" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00415082" "" "" "" "1" "" "01164" "" "" "M" "-" "Germany" "" "0" "" "" "" "202584" "00438296" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat14" "00438319" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat37" "00438361" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat79" "00440363" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED1597.2" "00448518" "" "" "" "2" "" "01164" "family, affected father/daughter" "" "F" "no" "Germany" "" "0" "" "" "" "284170" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 53 "{{individualid}}" "{{diseaseid}}" "00037103" "00198" "00037105" "00198" "00037107" "00198" "00037114" "00198" "00037116" "00544" "00037118" "00544" "00037119" "00544" "00037120" "00198" "00037121" "00198" "00037126" "00198" "00037129" "00544" "00037131" "00198" "00037132" "00198" "00037133" "00198" "00037134" "00198" "00050614" "00198" "00080889" "00544" "00081421" "00544" "00100280" "00544" "00116819" "00000" "00116885" "00000" "00116951" "00000" "00117042" "05315" "00180175" "00198" "00206816" "00198" "00234402" "00198" "00275581" "00198" "00289842" "00198" "00289843" "00198" "00289844" "00198" "00295755" "00198" "00296768" "00139" "00296786" "00139" "00299446" "00198" "00306011" "04270" "00307814" "00139" "00307815" "00139" "00307816" "00139" "00374499" "00198" "00374500" "00198" "00374501" "00198" "00374502" "00198" "00374503" "00198" "00374857" "00198" "00374858" "00198" "00374859" "00198" "00403042" "05356" "00415082" "00544" "00438296" "04270" "00438319" "04270" "00438361" "04270" "00440363" "00198" "00448518" "00545" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00544, 00545, 00546, 03749, 04270, 05216, 05315, 05356 ## Count = 43 "{{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}}" "0000037226" "00198" "00050614" "00006" "Isolated (sporadic)" "" "microcephaly, seizures, curved phalanges of the 5th finger, abnormality of finger, capillary hemangiomas" "" "" "" "" "" "" "" "" "" "" "" "0000060458" "00544" "00080889" "01758" "Isolated (sporadic)" "" "GLUT1 deficiency syndrome 1 (OMIM:606777)" "" "" "" "" "" "" "" "" "" "" "" "0000073821" "00198" "00037134" "01164" "Unknown" "" "ataxia, epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000073822" "00198" "00037133" "01164" "Unknown" "" "developmental delay, epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000073823" "00198" "00037114" "01164" "Unknown" "" "epilepsy, West-syndrome, global developmental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000073824" "00544" "00037116" "01164" "Unknown" "" "GLUT1-deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000073825" "00544" "00037118" "01164" "Unknown" "" "GLUT1-deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000073826" "00544" "00037129" "01164" "Unknown" "" "GLUT1-deficiency syndrome, difficult epilepsy, Borderline, low CSF glucose" "" "" "" "" "" "" "" "" "" "" "" "0000073827" "00544" "00037119" "01164" "Unknown" "" "GLUT1-deficiency: epilepsy (Absences, atonisch), ataxia, global developmental retardation, dystonia" "" "" "" "" "" "" "" "" "" "" "" "0000073828" "00198" "00037120" "01164" "Unknown" "" "juvenil epilepsy with Absences (atypical course)" "" "" "" "" "" "" "" "" "" "" "" "0000073829" "00198" "00037103" "01164" "Unknown" "" "juvenil epilepsy with Absences, mental retardation, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000073830" "00198" "00037126" "01164" "Unknown" "" "suspected GLUT-1-Defekt, ataxia, cramps" "" "" "" "" "" "" "" "" "" "" "" "0000073831" "00198" "00037121" "01164" "Unknown" "" "suspected GLUT1-deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000073832" "00198" "00037131" "01164" "Unknown" "" "suspected GLUT1-deficiency, cerebellar cramps" "" "" "" "" "" "" "" "" "" "" "" "0000073833" "00198" "00037132" "01164" "Unknown" "" "suspected GLUT1-deficiency, CSWS-syndrome, psychomotor retardation, relapsing ataxia" "" "" "" "" "" "" "" "" "" "" "" "0000073834" "00198" "00037107" "01164" "Unknown" "" "suspected GLUT1-deficiency, epilepsy, ataxia, abnormal development" "" "" "" "" "" "" "" "" "" "" "" "0000073835" "00198" "00037105" "01164" "Unknown" "" "suspected GLUT1-deficiency, generalized epilepsy, retardation, Gangataxie, dysarthria, ocular apraxia" "" "" "" "" "" "" "" "" "" "" "" "0000074202" "00544" "00081421" "01479" "Unknown" "" "5m myoclonic seizures; severe intellectual disability (IQ ~50); “clumsy” in the mornings, with clear improvement after breakfast, but never noticed episodes that might fit with a diagnosis of paroxysmal dyskinesia" "" "" "" "" "" "" "" "" "" "" "" "0000078569" "00544" "00100280" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092309" "05315" "00117042" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000142629" "00198" "00180175" "00006" "Familial, autosomal dominant" "" "Epilepsy (HP:0001250), generalized tonic-clonic seizures (HP:0025190), microcephaly (HP:0000252), global developmental delay (HP:0001263), episodic (morning) ataxia (HP:0002131), resting tremor (HP:0002322), hypoglycemia (HP:0001943)." "" "" "" "" "" "" "" "" "GLUT1DS-2" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000154605" "00198" "00206816" "01807" "Unknown" "" "HP:0200134 (Epileptic encephalopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000174813" "00198" "00234402" "01807" "Unknown" "" "Paroxysmal dyskinesia (HP:0007166); Absence seizure (HP:0002121); Tremor (HP:0001337); Intellectual disability, borderline (HP:0006889)" "" "" "" "" "" "" "" "" "" "" "" "0000210201" "00198" "00275581" "01164" "Unknown" "" "Delayed speech and language development (HP:0000750); Ataxia (HP:0001251); Generalized hypotonia (HP:0001290)" "" "" "" "" "" "" "" "" "" "" "" "0000223273" "00198" "00295755" "01164" "Unknown" "" "Gait ataxia (HP:0002066); Intellectual disability (HP:0001249); Strabismus (HP:0000486); Oculomotor apraxia (HP:0000657); Hypermetropia (HP:0000540); Dysarthria (HP:0001260)" "" "" "" "" "" "" "" "" "" "" "" "0000224167" "00139" "00296768" "00006" "Familial, autosomal dominant" "" "severe intellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000224185" "00139" "00296786" "00006" "Familial, autosomal dominant" "" "see paper; ..., severe intellectual disability; evocative symptoms of both SLC2A1 and ANKRD11 variants (major hypotonia, skeletal abnormalities" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000226756" "00198" "00299446" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000231857" "04270" "00306011" "00006" "Isolated (sporadic)" "26y" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000269709" "00198" "00374499" "00006" "Familial, autosomal dominant" "" "Seizures, spastic quadriplegia, walking and speech difficulties, vacant and unresponsive stare, episodes of excessive sleep and delayed developmental milestones." "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269710" "00198" "00374500" "00006" "Familial, autosomal dominant" "" "Multiple types of epilepsy, microcephaly, delayed motor and cognitive development, axial hypotonia ad episodes of nystagmus. MRI showed hypomyelination" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly" "" "0000269711" "00198" "00374501" "00006" "Familial, autosomal dominant" "" "Microcephaly, global developmental delay, episodic ataxia, ID, brisk tendon reflexes and coarse facial features." "" "" "" "" "" "" "" "" "" "ataxia, microcephaly, intellectual disability" "" "0000269712" "00198" "00374502" "00006" "Familial, autosomal dominant" "" "Encephalopathy, seizures, global developmental delay, microcephaly, cognitive defect, delayed speech, spasticity and hypoglycorrhachia" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly" "" "0000269713" "00198" "00374503" "00006" "Familial, autosomal dominant" "" "Episodic ataxia, absence epilepsy, reduced concentration, restlessness and a decline in academic performance" "" "" "" "" "" "" "" "" "" "epilepsy, ataxia" "" "0000270067" "00198" "00374857" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000270068" "00198" "00374858" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270069" "00198" "00374859" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000306883" "00544" "00415082" "01164" "Unknown" "" "Episodic ataxia" "" "" "" "" "" "" "" "" "" "Episodic ataxia" "" "0000328200" "04270" "00438296" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0012704 widened subarachnoid space" "4m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328223" "04270" "00438319" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001281 tetany; HP:0025119 violet lip discoloration; HP:0025401 staring gaze; HP:0007370 aplasia/hypoplasia of the corpus callosum; HP:0030047 abnormality of lateral ventricle; HP:0001302 pachygyria" "3m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328265" "04270" "00438361" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001249 intellectual disability" "1y6m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000330273" "00198" "00440363" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "GLUT1 deficiency syndrome 1 (MIM #606777)" "" "" "0000337695" "00545" "00448518" "01164" "Familial, autosomal dominant" "16y" "Freezing of gait, Episodic ataxia, Exercise-induced muscle fatigue, Intellectual disability, mild, Aortic valve stenosis, EEG abnormality, Migraine with aura; Father: gait ataxia, mental retardation" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 72 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037173" "00037103" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037174" "00037104" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037175" "00037105" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037176" "00037106" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037177" "00037107" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037178" "00037108" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037179" "00037109" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037180" "00037110" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037181" "00037111" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037182" "00037112" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037183" "00037113" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037184" "00037114" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037185" "00037115" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037186" "00037116" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037187" "00037117" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037188" "00037118" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037189" "00037119" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037190" "00037120" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037191" "00037121" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037192" "00037122" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037193" "00037123" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037194" "00037124" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037195" "00037125" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037196" "00037126" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037197" "00037127" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037198" "00037128" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037199" "00037129" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037200" "00037130" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037201" "00037131" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037202" "00037132" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037203" "00037133" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037204" "00037134" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037205" "00037135" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037206" "00037136" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050559" "00050614" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081001" "00080889" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081533" "00081421" "1" "01479" "01479" "2016-10-05 15:00:51" "00006" "2017-01-27 13:04:06" "RT-PCRq;SEQ;SEQ-NG-I" "DNA;RNA" "" "" "0000100683" "00100280" "1" "01741" "01741" "2017-02-10 14:11:48" "" "" "SEQ" "DNA" "" "" "0000117287" "00116819" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117353" "00116885" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117419" "00116951" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117520" "00117042" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000181078" "00180175" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000207850" "00206816" "1" "01807" "01807" "2018-11-14 14:33:26" "" "" "SEQ" "DNA" "" "" "0000235505" "00234402" "1" "01807" "01807" "2019-05-16 12:06:24" "" "" "SEQ" "DNA" "" "" "0000276739" "00275581" "1" "01164" "01164" "2020-01-09 21:03:35" "" "" "SEQ-NG-S" "DNA" "" "" "0000291010" "00289842" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291011" "00289843" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291012" "00289844" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296928" "00295755" "1" "01164" "01164" "2020-03-26 12:30:19" "" "" "SEQ-NG-S" "DNA" "" "" "0000297878" "00296768" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "223-gene ID panel" "0000297896" "00296786" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "241-gene ID panel" "0000300556" "00299446" "1" "01164" "01164" "2020-04-16 10:03:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000307141" "00306011" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000308954" "00307814" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308955" "00307815" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308956" "00307816" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000375693" "00374499" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375694" "00374500" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375695" "00374501" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375696" "00374502" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375697" "00374503" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376051" "00374857" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376052" "00374858" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376053" "00374859" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000404283" "00403042" "1" "01741" "01741" "2022-02-16 10:56:27" "" "" "SEQ-NG" "DNA" "" "" "0000416363" "00415082" "1" "01164" "01164" "2022-08-08 07:02:38" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000439778" "00438296" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439801" "00438319" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439843" "00438361" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441848" "00440363" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000450098" "00448518" "1" "01164" "01164" "2024-03-21 16:21:33" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{geneid}}" "0000037173" "SLC2A1" "0000037174" "SLC2A1" "0000037175" "SLC2A1" "0000037176" "SLC2A1" "0000037177" "SLC2A1" "0000037178" "SLC2A1" "0000037179" "SLC2A1" "0000037180" "SLC2A1" "0000037181" "SLC2A1" "0000037182" "SLC2A1" "0000037183" "SLC2A1" "0000037184" "SLC2A1" "0000037185" "SLC2A1" "0000037186" "SLC2A1" "0000037187" "SLC2A1" "0000037188" "SLC2A1" "0000037189" "SLC2A1" "0000037190" "SLC2A1" "0000037191" "SLC2A1" "0000037192" "SLC2A1" "0000037193" "SLC2A1" "0000037194" "SLC2A1" "0000037195" "SLC2A1" "0000037196" "SLC2A1" "0000037197" "SLC2A1" "0000037198" "SLC2A1" "0000037199" "SLC2A1" "0000037200" "SLC2A1" "0000037201" "SLC2A1" "0000037202" "SLC2A1" "0000037203" "SLC2A1" "0000037204" "SLC2A1" "0000037205" "SLC2A1" "0000037206" "SLC2A1" "0000050559" "SLC2A1" "0000081001" "SLC2A1" "0000081533" "SLC2A1" "0000100683" "SLC2A1" "0000181078" "SLC2A1" "0000297878" "SLC2A1" "0000297896" "ANKRD11" "0000297896" "SLC2A1" "0000307141" "SLC2A1" "0000308954" "SLC2A1" "0000308955" "SLC2A1" "0000308956" "SLC2A1" "0000375693" "SLC2A1" "0000375694" "SLC2A1" "0000375695" "SLC2A1" "0000375696" "SLC2A1" "0000375697" "SLC2A1" "0000376051" "SLC2A1" "0000376052" "SLC2A1" "0000376053" "SLC2A1" "0000404283" "CACNA1A" "0000416363" "SLC2A1" "0000450098" "SLC2A1" ## 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 = 242 "{{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}}" "0000064298" "1" "50" "1" "43395522" "43395522" "subst" "0" "01164" "SLC2A1_000017" "g.43395522G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42929851G>C" "" "VUS" "" "0000064299" "1" "90" "1" "43396437" "43396437" "subst" "0" "01164" "SLC2A1_000023" "g.43396437G>A" "" "" "" "" "PolyPhen-2: probably damaging (PSIC: 0.988)" "Germline" "" "" "0" "" "" "g.42930766G>A" "" "pathogenic" "" "0000064300" "1" "90" "1" "43393404" "43393404" "dup" "0" "01164" "SLC2A1_000006" "g.43393404dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42927733dup" "" "pathogenic" "" "0000064301" "1" "10" "1" "43393251" "43393252" "ins" "0" "01164" "SLC2A1_000003" "g.43393251_43393252insAAATGGTGAG" "" "" "" "" "" "Germline" "" "rs11282849" "0" "" "" "g.42927580_42927581insAAATGGTGAG" "" "benign" "" "0000064302" "1" "90" "1" "43396536" "43396536" "subst" "0" "01164" "SLC2A1_000028" "g.43396536G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42930865G>A" "" "pathogenic" "" "0000064303" "1" "90" "1" "43394689" "43394689" "subst" "0" "01164" "SLC2A1_000008" "g.43394689G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42929018G>A" "" "pathogenic" "" "0000064304" "1" "50" "1" "43396527" "43396527" "subst" "1.27029E-5" "01164" "SLC2A1_000027" "g.43396527T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42930856T>C" "" "VUS" "" "0000064305" "1" "50" "1" "43394976" "43394976" "subst" "0" "01164" "SLC2A1_000012" "g.43394976A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42929305A>G" "" "VUS" "" "0000064306" "1" "50" "1" "43408919" "43408919" "subst" "0" "01164" "SLC2A1_000033" "g.43408919C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42943248C>A" "" "VUS" "" "0000064307" "1" "50" "1" "43396733" "43396733" "subst" "0" "01164" "SLC2A1_000032" "g.43396733C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42931062C>T" "" "VUS" "" "0000064308" "1" "50" "1" "43395724" "43395724" "subst" "5.33627E-5" "01164" "SLC2A1_000020" "g.43395724C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42930053C>T" "" "VUS" "" "0000064309" "1" "50" "1" "43396656" "43396656" "subst" "0" "01164" "SLC2A1_000029" "g.43396656G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42930985G>T" "" "VUS" "" "0000064310" "1" "10" "1" "43395635" "43395635" "subst" "0.185518" "01164" "SLC2A1_000018" "g.43395635C>T" "" "" "" "" "" "Germline" "" "rs2229682" "0" "" "" "g.42929964C>T" "" "benign" "" "0000064311" "1" "50" "1" "43395390" "43395390" "subst" "0" "01164" "SLC2A1_000015" "g.43395390C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42929719C>G" "" "VUS" "" "0000064312" "1" "10" "1" "43408984" "43408984" "subst" "0.00177796" "01164" "SLC2A1_000026" "g.43408984C>T" "" "" "" "" "" "Germline" "" "rs34025424" "0" "" "" "g.42943313C>T" "" "benign" "" "0000064313" "1" "90" "1" "43394940" "43394940" "subst" "0" "01164" "SLC2A1_000011" "g.43394940G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42929269G>A" "" "pathogenic" "" "0000064314" "1" "50" "1" "43395391" "43395391" "subst" "0" "01164" "SLC2A1_000016" "g.43395391T>A" "" "" "" "" "PolyPhen2: probably damaging (PSIC: 1,00)" "Germline" "" "" "0" "" "" "g.42929720T>A" "" "VUS" "" "0000064315" "1" "50" "1" "43395706" "43395706" "subst" "0" "01164" "SLC2A1_000019" "g.43395706C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42930035C>G" "" "VUS" "" "0000064316" "1" "50" "1" "43395341" "43395341" "subst" "3.2559E-5" "01164" "SLC2A1_000013" "g.43395341G>A" "" "" "" "" "PolyPhen-2: probably damaging (PSIC: 0.982)" "Germline" "" "" "0" "" "" "g.42929670G>A" "" "VUS" "" "0000064317" "1" "50" "1" "43393344" "43393344" "subst" "4.06309E-6" "01164" "SLC2A1_000004" "g.43393344T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42927673T>C" "" "VUS" "" "0000064318" "1" "10" "1" "43408966" "43408966" "subst" "0.24165" "01164" "SLC2A1_000034" "g.43408966G>A" "" "" "" "" "" "Germline" "" "rs1385129" "0" "" "" "g.42943295G>A" "" "benign" "" "0000064319" "1" "90" "1" "43396718" "43396718" "subst" "0" "01164" "SLC2A1_000031" "g.43396718G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42931047G>A" "" "pathogenic" "" "0000064320" "1" "10" "1" "43396414" "43396414" "subst" "0.190569" "01164" "SLC2A1_000022" "g.43396414G>A" "" "" "" "" "" "Germline" "" "rs11537641" "0" "" "" "g.42930743G>A" "" "benign" "" "0000064321" "1" "90" "1" "43396716" "43396716" "subst" "0" "01164" "SLC2A1_000030" "g.43396716C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42931045C>G" "" "pathogenic" "" "0000064322" "1" "90" "1" "43396320" "43396322" "del" "0" "01164" "SLC2A1_000021" "g.43396320_43396322del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42930649_42930651del" "" "pathogenic" "" "0000064323" "1" "90" "1" "43393365" "43393365" "subst" "0" "01164" "SLC2A1_000005" "g.43393365G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42927694G>A" "" "pathogenic" "" "0000064324" "1" "90" "1" "43394679" "43394679" "subst" "0" "01164" "SLC2A1_000007" "g.43394679C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42929008C>T" "" "pathogenic" "" "0000064325" "1" "90" "1" "43394924" "43394924" "subst" "0" "01164" "SLC2A1_000010" "g.43394924G>A" "" "" "" "" "" "Germline" "" "rs80359824" "0" "" "" "g.42929253G>A" "" "pathogenic" "" "0000064326" "1" "50" "1" "43396501" "43396501" "subst" "2.11707E-5" "01164" "SLC2A1_000025" "g.43396501G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42930830G>A" "" "VUS" "" "0000064327" "1" "90" "1" "43396475" "43396475" "subst" "8.44537E-6" "01164" "SLC2A1_000024" "g.43396475G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42930804G>A" "" "pathogenic" "" "0000064328" "1" "50" "1" "43394861" "43394861" "dup" "0" "01164" "SLC2A1_000009" "g.43394861dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42929190dup" "" "VUS" "" "0000064329" "1" "10" "1" "43392690" "43392690" "subst" "0.000419057" "01164" "SLC2A1_000001" "g.43392690C>T" "" "" "" "" "" "Germline" "" "rs2229683" "0" "" "" "g.42927019C>T" "" "benign" "" "0000064330" "1" "50" "1" "43392784" "43392784" "subst" "0" "01164" "SLC2A1_000002" "g.43392784C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42927113C>G" "" "VUS" "" "0000064331" "1" "10" "1" "43395354" "43395354" "subst" "0.000744138" "01164" "SLC2A1_000014" "g.43395354G>A" "" "" "" "" "" "Germline" "" "rs783888808" "0" "" "" "g.42929683G>A" "" "benign" "" "0000079539" "0" "90" "1" "43395625" "43395625" "subst" "0" "00006" "SLC2A1_000035" "g.43395625G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.42929954G>A" "" "pathogenic" "" "0000130087" "0" "70" "1" "43392914" "43392914" "subst" "0" "01758" "SLC2A1_000037" "g.43392914T>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.42927243T>G" "" "likely pathogenic" "ACMG" "0000132189" "0" "90" "1" "43424429" "43424429" "subst" "0" "01479" "SLC2A1_000036" "g.43424429C>T" "" "" "" "" "variant creates new translation initiation site; fibroblast RNA-expression 0.4, NMD inhibited by cycloheximide" "De novo" "-" "" "0" "" "" "g.42958758C>T" "" "pathogenic" "" "0000163034" "0" "90" "1" "43393465" "43393465" "subst" "0" "01741" "SLC2A1_000038" "g.43393465C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.42927794C>T" "" "pathogenic" "" "0000163209" "0" "90" "1" "43424429" "43424429" "subst" "0" "01479" "SLC2A1_000036" "g.43424429C>T" "" "Kamsteeg submitted" "" "" "cDNA expression cloning in HEK293T cells shows preferential translation initiation at new ATG" "In vitro (cloned)" "-" "" "0" "" "" "g.42958758C>T" "" "NA" "" "0000188198" "0" "50" "1" "43395340" "43395340" "subst" "0" "02192" "SLC2A1_000041" "g.43395340C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.42929669C>T" "" "VUS" "" "0000188264" "0" "50" "1" "43394907" "43394907" "subst" "0" "02192" "SLC2A1_000040" "g.43394907C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.42929236C>T" "" "VUS" "" "0000188355" "0" "50" "1" "43394667" "43394667" "subst" "0" "02192" "SLC2A1_000039" "g.43394667T>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.42928996T>A" "" "VUS" "" "0000188443" "0" "50" "1" "43395433" "43395433" "subst" "0" "02192" "SLC2A1_000042" "g.43395433C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.42929762C>T" "" "VUS" "" "0000251226" "0" "10" "1" "43409199" "43409199" "subst" "0" "02326" "SLC2A1_000075" "g.43409199A>G" "" "" "" "SLC2A1(NM_006516.3):c.19-207T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42943528A>G" "" "benign" "" "0000252020" "0" "30" "1" "43395093" "43395093" "subst" "0" "02326" "SLC2A1_000058" "g.43395093A>C" "" "" "" "SLC2A1(NM_006516.3):c.868-108T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929422A>C" "" "likely benign" "" "0000252021" "0" "30" "1" "43396544" "43396544" "subst" "0.00013978" "02326" "SLC2A1_000071" "g.43396544A>G" "" "" "" "SLC2A1(NM_006516.3):c.276-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930873A>G" "" "likely benign" "" "0000256298" "0" "50" "1" "43396388" "43396388" "subst" "0" "01943" "SLC2A1_000068" "g.43396388A>G" "" "" "" "SLC2A1(NM_006516.3):c.425T>C (p.M142T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930717A>G" "" "VUS" "" "0000295905" "0" "10" "1" "43394612" "43394612" "subst" "0.0132998" "02330" "SLC2A1_000050" "g.43394612T>C" "" "" "" "SLC2A1(NM_006516.3):c.1065A>G (p.L355=), SLC2A1(NM_006516.4):c.1065A>G (p.L355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42928941T>C" "" "benign" "" "0000295906" "0" "10" "1" "43396414" "43396414" "subst" "0.190569" "02330" "SLC2A1_000022" "g.43396414G>A" "" "" "" "SLC2A1(NM_006516.3):c.399C>T (p.C133=), SLC2A1(NM_006516.4):c.399C>T (p.C133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930743G>A" "" "benign" "" "0000295907" "0" "10" "1" "43408966" "43408966" "subst" "0.24165" "02330" "SLC2A1_000034" "g.43408966G>A" "" "" "" "SLC2A1(NM_006516.3):c.45C>T (p.A15=), SLC2A1(NM_006516.4):c.45C>T (p.A15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42943295G>A" "" "benign" "" "0000295908" "0" "10" "1" "43395635" "43395635" "subst" "0.185518" "02330" "SLC2A1_000018" "g.43395635C>T" "" "" "" "SLC2A1(NM_006516.3):c.588G>A (p.P196=), SLC2A1(NM_006516.4):c.588G>A (p.P196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929964C>T" "" "benign" "" "0000295909" "0" "10" "1" "43395537" "43395537" "subst" "0.00452434" "02330" "SLC2A1_000060" "g.43395537C>G" "" "" "" "SLC2A1(NM_006516.3):c.679+7G>C, SLC2A1(NM_006516.4):c.679+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929866C>G" "" "benign" "" "0000298280" "0" "30" "1" "43393447" "43393447" "subst" "2.45064E-5" "02325" "SLC2A1_000047" "g.43393447G>A" "" "" "" "SLC2A1(NM_006516.4):c.1107C>T (p.I369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927776G>A" "" "likely benign" "" "0000298282" "0" "10" "1" "43393251" "43393252" "ins" "0" "02325" "SLC2A1_000045" "g.43393251_43393252insAAATGGTGAG" "" "" "" "SLC2A1(NM_006516.3):c.1278+30_1278+31insATTTCTCACC, SLC2A1(NM_006516.4):c.1278+24_1278+25insCTCACCATTT, SLC2A1(NM_006516.4):c.1278+24delAinsACTCACC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927580_42927581insAAATGGTGAG" "" "benign" "" "0000298283" "0" "30" "1" "43408984" "43408984" "subst" "0.00177796" "02325" "SLC2A1_000026" "g.43408984C>T" "" "" "" "SLC2A1(NM_006516.3):c.27G>A (p.T9=), SLC2A1(NM_006516.4):c.27G>A (p.T9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42943313C>T" "" "likely benign" "" "0000298284" "0" "30" "1" "43396474" "43396474" "subst" "3.37741E-5" "02325" "SLC2A1_000069" "g.43396474C>T" "" "" "" "SLC2A1(NM_006516.4):c.339G>A (p.S113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930803C>T" "" "likely benign" "" "0000298285" "0" "10" "1" "43396414" "43396414" "subst" "0.190569" "02325" "SLC2A1_000022" "g.43396414G>A" "" "" "" "SLC2A1(NM_006516.3):c.399C>T (p.C133=), SLC2A1(NM_006516.4):c.399C>T (p.C133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930743G>A" "" "benign" "" "0000298286" "0" "10" "1" "43408966" "43408966" "subst" "0.24165" "02325" "SLC2A1_000034" "g.43408966G>A" "" "" "" "SLC2A1(NM_006516.3):c.45C>T (p.A15=), SLC2A1(NM_006516.4):c.45C>T (p.A15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42943295G>A" "" "benign" "" "0000298287" "0" "10" "1" "43395635" "43395635" "subst" "0.185518" "02325" "SLC2A1_000018" "g.43395635C>T" "" "" "" "SLC2A1(NM_006516.3):c.588G>A (p.P196=), SLC2A1(NM_006516.4):c.588G>A (p.P196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929964C>T" "" "benign" "" "0000298288" "0" "50" "1" "43395340" "43395340" "subst" "0" "02325" "SLC2A1_000041" "g.43395340C>T" "" "" "" "SLC2A1(NM_006516.4):c.791G>A (p.R264H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929669C>T" "" "VUS" "" "0000299519" "0" "90" "1" "43408989" "43409005" "del" "0" "02329" "SLC2A1_000074" "g.43408989_43409005del" "" "" "" "SLC2A1(NM_006516.4):c.19-11_24delTTTCTCCGCAGAAGCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42943318_42943334del" "" "pathogenic" "" "0000299520" "0" "70" "1" "43395700" "43395700" "subst" "0" "02329" "SLC2A1_000065" "g.43395700C>T" "" "" "" "SLC2A1(NM_006516.4):c.523G>A (p.G175S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930029C>T" "" "likely pathogenic" "" "0000299521" "0" "90" "1" "43394969" "43394969" "subst" "0" "02329" "SLC2A1_000057" "g.43394969G>A" "" "" "" "SLC2A1(NM_006516.4):c.884C>T (p.T295M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929298G>A" "" "pathogenic" "" "0000302193" "0" "10" "1" "43394666" "43394666" "subst" "0.0207522" "02326" "SLC2A1_000051" "g.43394666G>A" "" "" "" "SLC2A1(NM_006516.3):c.1011C>T (p.H337=), SLC2A1(NM_006516.4):c.1011C>T (p.H337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42928995G>A" "" "benign" "" "0000302194" "0" "30" "1" "43394612" "43394612" "subst" "0.0132998" "02326" "SLC2A1_000050" "g.43394612T>C" "" "" "" "SLC2A1(NM_006516.3):c.1065A>G (p.L355=), SLC2A1(NM_006516.4):c.1065A>G (p.L355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42928941T>C" "" "likely benign" "" "0000302195" "0" "30" "1" "43394488" "43394488" "subst" "0" "02326" "SLC2A1_000048" "g.43394488G>A" "" "" "" "SLC2A1(NM_006516.3):c.1074+115C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42928817G>A" "" "likely benign" "" "0000302196" "0" "30" "1" "43394538" "43394538" "subst" "0" "02326" "SLC2A1_000049" "g.43394538T>C" "" "" "" "SLC2A1(NM_006516.3):c.1074+65A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42928867T>C" "" "likely benign" "" "0000302197" "0" "30" "1" "43393383" "43393383" "subst" "4.06326E-6" "02326" "SLC2A1_000046" "g.43393383C>T" "" "" "" "SLC2A1(NM_006516.3):c.1171G>A (p.V391M), SLC2A1(NM_006516.4):c.1171G>A (p.V391M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927712C>T" "" "likely benign" "" "0000302198" "0" "30" "1" "43392819" "43392819" "subst" "0.00280496" "02326" "SLC2A1_000043" "g.43392819G>T" "" "" "" "SLC2A1(NM_006516.3):c.1372C>A (p.R458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927148G>T" "" "likely benign" "" "0000302199" "0" "10" "1" "43396501" "43396501" "subst" "2.11707E-5" "02326" "SLC2A1_000025" "g.43396501G>A" "" "" "" "SLC2A1(NM_006516.3):c.312C>T (p.F104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930830G>A" "" "benign" "" "0000302200" "0" "10" "1" "43396414" "43396414" "subst" "0.190569" "02326" "SLC2A1_000022" "g.43396414G>A" "" "" "" "SLC2A1(NM_006516.3):c.399C>T (p.C133=), SLC2A1(NM_006516.4):c.399C>T (p.C133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930743G>A" "" "benign" "" "0000302201" "0" "10" "1" "43396306" "43396306" "subst" "0.000248678" "02326" "SLC2A1_000067" "g.43396306G>A" "" "" "" "SLC2A1(NM_006516.3):c.507C>T (p.L169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930635G>A" "" "benign" "" "0000302202" "0" "30" "1" "43396030" "43396030" "subst" "0" "02326" "SLC2A1_000066" "g.43396030T>C" "" "" "" "SLC2A1(NM_006516.3):c.516+267A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930359T>C" "" "likely benign" "" "0000302203" "0" "30" "1" "43395724" "43395724" "subst" "5.33627E-5" "02326" "SLC2A1_000020" "g.43395724C>T" "" "" "" "SLC2A1(NM_006516.3):c.517-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930053C>T" "" "likely benign" "" "0000302204" "0" "10" "1" "43395635" "43395635" "subst" "0.185518" "02326" "SLC2A1_000018" "g.43395635C>T" "" "" "" "SLC2A1(NM_006516.3):c.588G>A (p.P196=), SLC2A1(NM_006516.4):c.588G>A (p.P196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929964C>T" "" "benign" "" "0000302205" "0" "30" "1" "43395540" "43395540" "subst" "0.000158391" "02326" "SLC2A1_000063" "g.43395540G>A" "" "" "" "SLC2A1(NM_006516.3):c.679+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929869G>A" "" "likely benign" "" "0000302206" "0" "10" "1" "43395537" "43395537" "subst" "1.2184E-5" "02326" "SLC2A1_000061" "g.43395537C>T" "" "" "" "SLC2A1(NM_006516.3):c.679+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929866C>T" "" "benign" "" "0000302207" "0" "30" "1" "43395537" "43395537" "subst" "0.00452434" "02326" "SLC2A1_000060" "g.43395537C>G" "" "" "" "SLC2A1(NM_006516.3):c.679+7G>C, SLC2A1(NM_006516.4):c.679+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929866C>G" "" "likely benign" "" "0000302208" "0" "30" "1" "43395537" "43395537" "subst" "0.00296884" "02326" "SLC2A1_000062" "g.43395537C>A" "" "" "" "SLC2A1(NM_006516.3):c.679+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929866C>A" "" "likely benign" "" "0000302209" "0" "30" "1" "43395354" "43395354" "subst" "0.000744138" "02326" "SLC2A1_000014" "g.43395354G>A" "" "" "" "SLC2A1(NM_006516.3):c.777C>T (p.I259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929683G>A" "" "likely benign" "" "0000302210" "0" "30" "1" "43395267" "43395267" "subst" "0.000160198" "02326" "SLC2A1_000059" "g.43395267G>A" "" "" "" "SLC2A1(NM_006516.3):c.864C>T (p.N288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929596G>A" "" "likely benign" "" "0000302211" "0" "10" "1" "43394887" "43394887" "subst" "0.0165154" "02326" "SLC2A1_000056" "g.43394887G>A" "" "" "" "SLC2A1(NM_006516.3):c.966C>T (p.V322=), SLC2A1(NM_006516.4):c.966C>T (p.V322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929216G>A" "" "benign" "" "0000302212" "0" "90" "1" "43394882" "43394882" "subst" "0" "02326" "SLC2A1_000055" "g.43394882G>A" "" "" "" "SLC2A1(NM_006516.3):c.971C>T (p.S324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929211G>A" "" "pathogenic" "" "0000302213" "0" "30" "1" "43394874" "43394874" "del" "0.000199356" "02326" "SLC2A1_000054" "g.43394874del" "" "" "" "SLC2A1(NM_006516.3):c.972+7delC, SLC2A1(NM_006516.4):c.972+7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929203del" "" "likely benign" "" "0000302214" "0" "10" "1" "43394721" "43394721" "subst" "0.00237019" "02326" "SLC2A1_000053" "g.43394721T>C" "" "" "" "SLC2A1(NM_006516.3):c.973-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929050T>C" "" "benign" "" "0000302215" "0" "90" "1" "43394692" "43394692" "subst" "0" "02326" "SLC2A1_000052" "g.43394692C>G" "" "" "" "SLC2A1(NM_006516.3):c.985G>C (p.E329Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929021C>G" "" "pathogenic" "" "0000308372" "0" "10" "1" "43394666" "43394666" "subst" "0.0207522" "01943" "SLC2A1_000051" "g.43394666G>A" "" "" "" "SLC2A1(NM_006516.3):c.1011C>T (p.H337=), SLC2A1(NM_006516.4):c.1011C>T (p.H337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42928995G>A" "" "benign" "" "0000308373" "0" "30" "1" "43396854" "43396854" "subst" "0.000264397" "01943" "SLC2A1_000072" "g.43396854C>G" "" "" "" "SLC2A1(NM_006516.3):c.138G>C (p.Q46H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42931183C>G" "" "likely benign" "" "0000308374" "0" "70" "1" "43396535" "43396535" "subst" "4.23865E-6" "01943" "SLC2A1_000070" "g.43396535C>T" "" "" "" "SLC2A1(NM_006516.3):c.278G>A (p.R93Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930864C>T" "" "likely pathogenic" "" "0000308375" "0" "30" "1" "43408984" "43408984" "subst" "0.00177796" "01943" "SLC2A1_000026" "g.43408984C>T" "" "" "" "SLC2A1(NM_006516.3):c.27G>A (p.T9=), SLC2A1(NM_006516.4):c.27G>A (p.T9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42943313C>T" "" "likely benign" "" "0000308376" "0" "10" "1" "43396414" "43396414" "subst" "0.190569" "01943" "SLC2A1_000022" "g.43396414G>A" "" "" "" "SLC2A1(NM_006516.3):c.399C>T (p.C133=), SLC2A1(NM_006516.4):c.399C>T (p.C133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930743G>A" "" "benign" "" "0000308377" "0" "10" "1" "43408966" "43408966" "subst" "0.24165" "01943" "SLC2A1_000034" "g.43408966G>A" "" "" "" "SLC2A1(NM_006516.3):c.45C>T (p.A15=), SLC2A1(NM_006516.4):c.45C>T (p.A15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42943295G>A" "" "benign" "" "0000308378" "0" "10" "1" "43395635" "43395635" "subst" "0.185518" "01943" "SLC2A1_000018" "g.43395635C>T" "" "" "" "SLC2A1(NM_006516.3):c.588G>A (p.P196=), SLC2A1(NM_006516.4):c.588G>A (p.P196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929964C>T" "" "benign" "" "0000308379" "0" "30" "1" "43395540" "43395540" "subst" "0.000158391" "01943" "SLC2A1_000063" "g.43395540G>A" "" "" "" "SLC2A1(NM_006516.3):c.679+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929869G>A" "" "likely benign" "" "0000308380" "0" "90" "1" "43408938" "43408938" "subst" "0" "01943" "SLC2A1_000073" "g.43408938G>A" "" "" "" "SLC2A1(NM_006516.3):c.73C>T (p.Q25*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42943267G>A" "" "pathogenic" "" "0000308381" "0" "10" "1" "43394887" "43394887" "subst" "0.0165154" "01943" "SLC2A1_000056" "g.43394887G>A" "" "" "" "SLC2A1(NM_006516.3):c.966C>T (p.V322=), SLC2A1(NM_006516.4):c.966C>T (p.V322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929216G>A" "" "benign" "" "0000320767" "0" "50" "1" "43395622" "43395622" "subst" "0" "01804" "SLC2A1_000064" "g.43395622A>C" "" "" "" "SLC2A1(NM_006516.2):c.601T>G (p.(Cys201Gly)), SLC2A1(NM_006516.3):c.601T>G (p.C201G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929951A>C" "" "VUS" "" "0000338086" "0" "10" "1" "43394721" "43394721" "subst" "0.00237019" "02327" "SLC2A1_000053" "g.43394721T>C" "" "" "" "SLC2A1(NM_006516.3):c.973-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929050T>C" "" "benign" "" "0000338087" "0" "10" "1" "43395537" "43395537" "subst" "0.00452434" "02327" "SLC2A1_000060" "g.43395537C>G" "" "" "" "SLC2A1(NM_006516.3):c.679+7G>C, SLC2A1(NM_006516.4):c.679+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929866C>G" "" "benign" "" "0000338088" "0" "30" "1" "43396545" "43396545" "subst" "5.0819E-5" "02327" "SLC2A1_000108" "g.43396545C>T" "" "" "" "SLC2A1(NM_006516.3):c.276-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930874C>T" "" "likely benign" "" "0000338089" "0" "50" "1" "43396551" "43396551" "subst" "0" "02327" "SLC2A1_000109" "g.43396551C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930880C>T" "" "VUS" "" "0000339102" "0" "90" "1" "43393297" "43393297" "subst" "0" "02327" "SLC2A1_000080" "g.43393297G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927626G>A" "" "pathogenic" "" "0000340073" "0" "10" "1" "43395635" "43395635" "subst" "0.185518" "02327" "SLC2A1_000018" "g.43395635C>T" "" "" "" "SLC2A1(NM_006516.3):c.588G>A (p.P196=), SLC2A1(NM_006516.4):c.588G>A (p.P196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929964C>T" "" "benign" "" "0000340074" "0" "10" "1" "43408966" "43408966" "subst" "0.24165" "02327" "SLC2A1_000034" "g.43408966G>A" "" "" "" "SLC2A1(NM_006516.3):c.45C>T (p.A15=), SLC2A1(NM_006516.4):c.45C>T (p.A15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42943295G>A" "" "benign" "" "0000340809" "0" "10" "1" "43394666" "43394666" "subst" "0.0207522" "02327" "SLC2A1_000051" "g.43394666G>A" "" "" "" "SLC2A1(NM_006516.3):c.1011C>T (p.H337=), SLC2A1(NM_006516.4):c.1011C>T (p.H337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42928995G>A" "" "benign" "" "0000340852" "0" "10" "1" "43394612" "43394612" "subst" "0.0132998" "02327" "SLC2A1_000050" "g.43394612T>C" "" "" "" "SLC2A1(NM_006516.3):c.1065A>G (p.L355=), SLC2A1(NM_006516.4):c.1065A>G (p.L355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42928941T>C" "" "benign" "" "0000340900" "0" "30" "1" "43395599" "43395599" "subst" "1.21843E-5" "02327" "SLC2A1_000097" "g.43395599G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929928G>A" "" "likely benign" "" "0000341033" "0" "10" "1" "43408984" "43408984" "subst" "0.00177796" "02327" "SLC2A1_000026" "g.43408984C>T" "" "" "" "SLC2A1(NM_006516.3):c.27G>A (p.T9=), SLC2A1(NM_006516.4):c.27G>A (p.T9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42943313C>T" "" "benign" "" "0000341192" "0" "90" "1" "43396349" "43396349" "subst" "0" "02327" "SLC2A1_000100" "g.43396349G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930678G>A" "" "pathogenic" "" "0000341328" "0" "90" "1" "43395308" "43395308" "subst" "0" "02327" "SLC2A1_000088" "g.43395308C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929637C>T" "" "pathogenic" "" "0000341457" "0" "50" "1" "43392801" "43392801" "subst" "0" "02327" "SLC2A1_000076" "g.43392801C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927130C>G" "" "VUS" "" "0000341819" "0" "90" "1" "43396437" "43396437" "subst" "0" "02327" "SLC2A1_000023" "g.43396437G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930766G>A" "" "pathogenic" "" "0000341977" "0" "90" "1" "43396355" "43396355" "subst" "0" "02327" "SLC2A1_000101" "g.43396355C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930684C>T" "" "pathogenic" "" "0000342245" "0" "90" "1" "43395588" "43395588" "subst" "0" "02327" "SLC2A1_000096" "g.43395588C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929917C>T" "" "pathogenic" "" "0000342678" "0" "90" "1" "43394679" "43394679" "subst" "0" "02327" "SLC2A1_000007" "g.43394679C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929008C>T" "" "pathogenic" "" "0000342819" "0" "90" "1" "43393356" "43393356" "subst" "0" "02327" "SLC2A1_000082" "g.43393356G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927685G>A" "" "pathogenic" "" "0000343048" "0" "50" "1" "43396841" "43396841" "subst" "0" "02327" "SLC2A1_000112" "g.43396841G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42931170G>A" "" "VUS" "" "0000343723" "0" "90" "1" "43408910" "43408910" "subst" "0" "02327" "SLC2A1_000113" "g.43408910T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42943239T>C" "" "pathogenic" "" "0000344007" "0" "90" "1" "43395425" "43395425" "del" "0" "02327" "SLC2A1_000091" "g.43395425del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929754del" "" "pathogenic" "" "0000344260" "0" "90" "1" "43396414" "43396414" "subst" "0" "02327" "SLC2A1_000105" "g.43396414G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930743G>T" "" "pathogenic" "" "0000344261" "0" "10" "1" "43396414" "43396414" "subst" "0.190569" "02327" "SLC2A1_000022" "g.43396414G>A" "" "" "" "SLC2A1(NM_006516.3):c.399C>T (p.C133=), SLC2A1(NM_006516.4):c.399C>T (p.C133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930743G>A" "" "benign" "" "0000345250" "0" "90" "1" "43395562" "43395562" "subst" "0" "02327" "SLC2A1_000093" "g.43395562C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929891C>A" "" "pathogenic" "" "0000345695" "0" "70" "1" "43396425" "43396425" "subst" "0" "02327" "SLC2A1_000106" "g.43396425C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930754C>T" "" "likely pathogenic" "" "0000345982" "0" "90" "1" "43394913" "43394913" "subst" "0" "02327" "SLC2A1_000086" "g.43394913C>T" "" "" "" "SLC2A1(NM_006516.4):c.940G>A (p.G314S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929242C>T" "" "pathogenic" "" "0000346042" "0" "90" "1" "43393409" "43393409" "subst" "0" "02327" "SLC2A1_000084" "g.43393409C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927738C>T" "" "pathogenic" "" "0000346634" "0" "90" "1" "43395576" "43395576" "subst" "0" "02327" "SLC2A1_000094" "g.43395576A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929905A>G" "" "pathogenic" "" "0000346995" "0" "90" "1" "43395582" "43395582" "subst" "0" "02327" "SLC2A1_000095" "g.43395582A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929911A>G" "" "pathogenic" "" "0000347836" "0" "90" "1" "43393295" "43393295" "subst" "0" "02327" "SLC2A1_000079" "g.43393295A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927624A>C" "" "pathogenic" "" "0000347898" "0" "50" "1" "43396763" "43396763" "subst" "4.06187E-6" "02327" "SLC2A1_000110" "g.43396763T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42931092T>C" "" "VUS" "" "0000349420" "0" "90" "1" "43394969" "43394969" "subst" "0" "02327" "SLC2A1_000057" "g.43394969G>A" "" "" "" "SLC2A1(NM_006516.4):c.884C>T (p.T295M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929298G>A" "" "pathogenic" "" "0000349439" "0" "90" "1" "43394924" "43394924" "subst" "0" "02327" "SLC2A1_000010" "g.43394924G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929253G>A" "" "pathogenic" "" "0000349516" "0" "50" "1" "43392878" "43392878" "subst" "0" "02327" "SLC2A1_000077" "g.43392878G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927207G>C" "" "VUS" "" "0000349791" "0" "90" "1" "43393390" "43393390" "subst" "0" "02327" "SLC2A1_000083" "g.43393390C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927719C>T" "" "pathogenic" "" "0000349798" "0" "90" "1" "43393319" "43393319" "subst" "0" "02327" "SLC2A1_000081" "g.43393319C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927648C>T" "" "pathogenic" "" "0000349836" "0" "90" "1" "43396797" "43396797" "subst" "0" "02327" "SLC2A1_000111" "g.43396797C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42931126C>G" "" "pathogenic" "" "0000350095" "0" "90" "1" "43392895" "43392895" "subst" "0" "02327" "SLC2A1_000078" "g.43392895G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927224G>T" "" "pathogenic" "" "0000350289" "0" "50" "1" "43396395" "43396395" "subst" "0" "02327" "SLC2A1_000103" "g.43396395C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930724C>A" "" "VUS" "" "0000350290" "0" "50" "1" "43396395" "43396395" "subst" "0" "02327" "SLC2A1_000104" "g.43396395C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930724C>G" "" "VUS" "" "0000350477" "0" "10" "1" "43394887" "43394887" "subst" "0.0165154" "02327" "SLC2A1_000056" "g.43394887G>A" "" "" "" "SLC2A1(NM_006516.3):c.966C>T (p.V322=), SLC2A1(NM_006516.4):c.966C>T (p.V322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929216G>A" "" "benign" "" "0000350516" "0" "90" "1" "43393428" "43393428" "subst" "0" "02327" "SLC2A1_000085" "g.43393428C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42927757C>G" "" "pathogenic" "" "0000351192" "0" "90" "1" "43395453" "43395453" "subst" "0" "02327" "SLC2A1_000092" "g.43395453T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42929782T>C" "" "pathogenic" "" "0000351193" "0" "90" "1" "43396539" "43396539" "subst" "0" "02327" "SLC2A1_000107" "g.43396539T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42930868T>G" "" "pathogenic" "" "0000404714" "0" "90" "1" "43396345" "43396345" "dup" "0" "00006" "SLC2A1_000114" "g.43396345dup" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "De novo" "" "" "0" "" "" "g.42930674dup" "" "pathogenic" "ACMG" "0000437556" "0" "90" "1" "43396503" "43396503" "dup" "0" "01807" "SLC2A1_000115" "g.43396503dup" "" "" "" "311dupT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.42930832dup" "" "pathogenic" "" "0000478743" "0" "50" "1" "43395439" "43395439" "subst" "0" "01807" "SLC2A1_000116" "g.43395439A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42929768A>G" "" "VUS" "" "0000507497" "0" "50" "1" "43392783" "43392783" "subst" "4.06765E-6" "02327" "SLC2A1_000117" "g.43392783C>T" "" "" "" "SLC2A1(NM_006516.3):c.1408G>A (p.G470R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42927112C>T" "" "VUS" "" "0000507498" "0" "30" "1" "43392783" "43392783" "subst" "4.06765E-6" "02326" "SLC2A1_000117" "g.43392783C>T" "" "" "" "SLC2A1(NM_006516.3):c.1408G>A (p.G470R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42927112C>T" "" "likely benign" "" "0000507499" "0" "30" "1" "43392795" "43392795" "subst" "2.44119E-5" "02327" "SLC2A1_000118" "g.43392795C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42927124C>T" "" "likely benign" "" "0000507500" "0" "10" "1" "43392819" "43392819" "subst" "0.00280496" "01943" "SLC2A1_000043" "g.43392819G>T" "" "" "" "SLC2A1(NM_006516.3):c.1372C>A (p.R458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42927148G>T" "" "benign" "" "0000507502" "0" "30" "1" "43392895" "43392895" "subst" "0.000692952" "01943" "SLC2A1_000119" "g.43392895G>A" "" "" "" "SLC2A1(NM_006516.3):c.1296C>T (p.Y432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42927224G>A" "" "likely benign" "" "0000507503" "0" "10" "1" "43392895" "43392895" "subst" "0.000692952" "02326" "SLC2A1_000119" "g.43392895G>A" "" "" "" "SLC2A1(NM_006516.3):c.1296C>T (p.Y432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42927224G>A" "" "benign" "" "0000507504" "0" "30" "1" "43393383" "43393383" "subst" "4.06326E-6" "02325" "SLC2A1_000046" "g.43393383C>T" "" "" "" "SLC2A1(NM_006516.3):c.1171G>A (p.V391M), SLC2A1(NM_006516.4):c.1171G>A (p.V391M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42927712C>T" "" "likely benign" "" "0000507505" "0" "10" "1" "43393384" "43393384" "subst" "0.00281177" "01943" "SLC2A1_000120" "g.43393384G>A" "" "" "" "SLC2A1(NM_006516.3):c.1170C>T (p.I390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42927713G>A" "" "benign" "" "0000507506" "0" "50" "1" "43394646" "43394646" "subst" "0" "02327" "SLC2A1_000121" "g.43394646A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42928975A>G" "" "VUS" "" "0000507507" "0" "10" "1" "43394666" "43394666" "subst" "0.0207522" "02330" "SLC2A1_000051" "g.43394666G>A" "" "" "" "SLC2A1(NM_006516.3):c.1011C>T (p.H337=), SLC2A1(NM_006516.4):c.1011C>T (p.H337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42928995G>A" "" "benign" "" "0000507508" "0" "10" "1" "43394874" "43394874" "del" "0.000199356" "02330" "SLC2A1_000054" "g.43394874del" "" "" "" "SLC2A1(NM_006516.3):c.972+7delC, SLC2A1(NM_006516.4):c.972+7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42929203del" "" "benign" "" "0000507511" "0" "10" "1" "43394887" "43394887" "subst" "0.0165154" "02330" "SLC2A1_000056" "g.43394887G>A" "" "" "" "SLC2A1(NM_006516.3):c.966C>T (p.V322=), SLC2A1(NM_006516.4):c.966C>T (p.V322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42929216G>A" "" "benign" "" "0000507512" "0" "90" "1" "43394987" "43394987" "subst" "0" "02327" "SLC2A1_000124" "g.43394987T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42929316T>C" "" "pathogenic" "" "0000507513" "0" "90" "1" "43395298" "43395298" "subst" "0" "02326" "SLC2A1_000125" "g.43395298A>G" "" "" "" "SLC2A1(NM_006516.3):c.833T>C (p.L278P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42929627A>G" "" "pathogenic" "" "0000507514" "0" "30" "1" "43395326" "43395326" "subst" "0.00023622" "02327" "SLC2A1_000126" "g.43395326G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42929655G>A" "" "likely benign" "" "0000507515" "0" "30" "1" "43395354" "43395354" "subst" "0.000744138" "01943" "SLC2A1_000014" "g.43395354G>A" "" "" "" "SLC2A1(NM_006516.3):c.777C>T (p.I259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42929683G>A" "" "likely benign" "" "0000507516" "0" "70" "1" "43395440" "43395442" "del" "0" "02325" "SLC2A1_000127" "g.43395440_43395442del" "" "" "" "SLC2A1(NM_006516.4):c.689_691delAGC (p.K230_L231delinsM)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42929769_42929771del" "" "likely pathogenic" "" "0000507517" "0" "30" "1" "43395555" "43395555" "subst" "1.21839E-5" "01804" "SLC2A1_000128" "g.43395555C>T" "" "" "" "SLC2A1(NM_006516.2):c.668G>A (p.(Arg223Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42929884C>T" "" "likely benign" "" "0000507518" "0" "50" "1" "43395622" "43395622" "subst" "0" "01943" "SLC2A1_000064" "g.43395622A>C" "" "" "" "SLC2A1(NM_006516.2):c.601T>G (p.(Cys201Gly)), SLC2A1(NM_006516.3):c.601T>G (p.C201G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42929951A>C" "" "VUS" "" "0000507519" "0" "50" "1" "43395680" "43395680" "subst" "0.000122003" "01943" "SLC2A1_000129" "g.43395680G>A" "" "" "" "SLC2A1(NM_006516.3):c.543C>T (p.G181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42930009G>A" "" "VUS" "" "0000507520" "0" "90" "1" "43395707" "43395707" "subst" "0" "02327" "SLC2A1_000130" "g.43395707C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42930036C>A" "" "pathogenic" "" "0000507521" "0" "70" "1" "43395707" "43395707" "subst" "0" "02325" "SLC2A1_000131" "g.43395707C>G" "" "" "" "SLC2A1(NM_006516.4):c.517-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42930036C>G" "" "likely pathogenic" "" "0000507522" "0" "90" "1" "43396356" "43396356" "subst" "0" "02327" "SLC2A1_000132" "g.43396356G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42930685G>A" "" "pathogenic" "" "0000507523" "0" "90" "1" "43396436" "43396436" "subst" "0" "02329" "SLC2A1_000133" "g.43396436C>T" "" "" "" "SLC2A1(NM_006516.4):c.377G>A (p.R126H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42930765C>T" "" "pathogenic" "" "0000507524" "0" "70" "1" "43396536" "43396536" "subst" "0" "02327" "SLC2A1_000028" "g.43396536G>A" "" "" "" "SLC2A1(NM_006516.4):c.277C>T (p.R93W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42930865G>A" "" "likely pathogenic" "" "0000507525" "0" "30" "1" "43396544" "43396544" "subst" "0.00013978" "01943" "SLC2A1_000071" "g.43396544A>G" "" "" "" "SLC2A1(NM_006516.3):c.276-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42930873A>G" "" "likely benign" "" "0000507526" "0" "90" "1" "43396718" "43396718" "subst" "0" "02327" "SLC2A1_000031" "g.43396718G>A" "" "" "" "SLC2A1(NM_006516.3):c.274C>T (p.R92W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42931047G>A" "" "pathogenic" "" "0000507527" "0" "50" "1" "43396727" "43396727" "subst" "0" "01943" "SLC2A1_000134" "g.43396727G>A" "" "" "" "SLC2A1(NM_006516.3):c.265C>T (p.R89C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42931056G>A" "" "VUS" "" "0000507529" "0" "30" "1" "43424300" "43424300" "subst" "0" "01943" "SLC2A1_000135" "g.43424300C>T" "" "" "" "SLC2A1(NM_006516.3):c.18+5G>A, SLC2A1(NM_006516.4):c.18+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42958629C>T" "" "likely benign" "" "0000507531" "0" "90" "1" "43424429" "43424429" "subst" "0" "02327" "SLC2A1_000036" "g.43424429C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42958758C>T" "" "pathogenic" "" "0000605769" "0" "90" "1" "43396536" "43396536" "subst" "0" "02325" "SLC2A1_000028" "g.43396536G>A" "" "" "" "SLC2A1(NM_006516.4):c.277C>T (p.R93W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42930865G>A" "" "pathogenic" "" "0000605770" "0" "70" "1" "43408896" "43408896" "subst" "0" "01804" "SLC2A1_000138" "g.43408896C>T" "" "" "" "SLC2A1(NM_006516.2):c.114+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42943225C>T" "" "likely pathogenic" "" "0000605771" "0" "50" "1" "43408965" "43408965" "subst" "0" "02329" "SLC2A1_000139" "g.43408965C>T" "" "" "" "SLC2A1(NM_006516.4):c.46G>A (p.V16M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42943294C>T" "" "VUS" "" "0000630872" "0" "70" "1" "43395420" "43395420" "dup" "0" "01164" "SLC2A1_000140" "g.43395420dup" "" "" "" "" "ACMG: PVS1,PM2; Ataxia (standing gait trunk ataxia) with generalized muscular hypotonia, delayed speech development (combined developmental delay)\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000647699" "1" "30" "1" "43393338" "43393338" "subst" "8.94076E-5" "03575" "SLC2A1_000141" "g.43393338C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs148800393}" "Germline" "" "rs148800393" "0" "" "" "g.42927667C>T" "" "likely benign" "" "0000647700" "1" "70" "1" "43394695" "43394695" "subst" "0" "03575" "SLC2A1_000142" "g.43394695C>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs796053255}" "Germline" "" "rs796053255" "0" "" "" "g.42929024C>A" "" "likely pathogenic" "" "0000647701" "1" "90" "1" "43424304" "43424304" "subst" "0" "03575" "SLC2A1_000143" "g.43424304C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs80359841}" "Germline" "" "rs80359841" "0" "" "" "g.42958633C>T" "" "pathogenic" "" "0000654042" "0" "30" "1" "43396306" "43396306" "subst" "0.000248678" "01943" "SLC2A1_000067" "g.43396306G>A" "" "" "" "SLC2A1(NM_006516.3):c.507C>T (p.L169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42930635G>A" "" "likely benign" "" "0000654043" "0" "70" "1" "43408985" "43408985" "subst" "0" "02327" "SLC2A1_000145" "g.43408985G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42943314G>A" "" "likely pathogenic" "" "0000659580" "0" "50" "1" "43395368" "43395370" "del" "0" "01164" "SLC2A1_000144" "g.43395368_43395370del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42929697_42929699del" "" "VUS" "ACMG" "0000660578" "0" "90" "1" "43395407" "43395407" "subst" "0" "00006" "SLC2A1_000148" "g.43395407G>A" "" "{PMID:Redin 2014:25167861}" "" "" "" "De novo" "" "" "0" "" "" "g.42929736G>A" "" "pathogenic (dominant)" "" "0000660596" "11" "70" "1" "43392784" "43392784" "del" "0" "00006" "SLC2A1_000147" "g.43392784del" "" "{PMID:Redin 2014:25167861}" "" "" "" "Germline" "" "" "0" "" "" "g.42927113del" "" "pathogenic (dominant)" "" "0000663270" "0" "90" "1" "43394680" "43394680" "subst" "0" "01164" "SLC2A1_000146" "g.43394680G>A" "" "Wang et al. 200. Hum Mutat 16: 224; Jiang et al. 2010. Metallomics 2: 211; Mullen et al. 2011. Arch Neurol 68: 1152; Deng et al. 2014. Nature 510: 121" "" "" "" "Germline" "" "rs80359825" "0" "" "" "g.42929009G>A" "" "pathogenic" "" "0000673706" "0" "90" "1" "43394616" "43394619" "del" "0" "00006" "SLC2A1_000149" "g.43394616_43394619del" "" "{PMID:Johannesen 2020:32427350}" "" "1058_1061delTCGC" "ACMG PVS1, PM2, PM6" "De novo" "" "" "0" "" "" "g.42928945_42928948del" "" "pathogenic (dominant)" "ACMG" "0000675853" "0" "30" "1" "43424300" "43424300" "subst" "0" "02325" "SLC2A1_000135" "g.43424300C>T" "" "" "" "SLC2A1(NM_006516.3):c.18+5G>A, SLC2A1(NM_006516.4):c.18+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683388" "0" "70" "1" "43395364" "43395364" "subst" "1.21952E-5" "00006" "SLC2A1_000150" "g.43395364T>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "rs148359799" "0" "" "" "g.42929693T>A" "" "likely pathogenic (dominant)" "" "0000683389" "0" "70" "1" "43395365" "43395365" "subst" "1.21946E-5" "00006" "SLC2A1_000151" "g.43395365T>C" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "rs121909738" "0" "" "" "g.42929694T>C" "" "likely pathogenic (dominant)" "" "0000683390" "0" "70" "1" "43396718" "43396718" "subst" "0" "00006" "SLC2A1_000031" "g.43396718G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.42931047G>A" "" "likely pathogenic (dominant)" "" "0000717494" "0" "50" "1" "43392783" "43392783" "subst" "8.94884E-5" "01943" "SLC2A1_000152" "g.43392783C>G" "" "" "" "SLC2A1(NM_006516.3):c.1408G>C (p.G470R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717495" "0" "30" "1" "43392796" "43392796" "subst" "3.66169E-5" "01943" "SLC2A1_000153" "g.43392796G>A" "" "" "" "SLC2A1(NM_006516.3):c.1395C>T (p.S465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717496" "0" "70" "1" "43393287" "43393287" "subst" "0" "02329" "SLC2A1_000154" "g.43393287G>A" "" "" "" "SLC2A1(NM_006516.4):c.1267C>T (p.Q423*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717497" "0" "90" "1" "43394689" "43394689" "subst" "0" "02325" "SLC2A1_000008" "g.43394689G>A" "" "" "" "SLC2A1(NM_006516.4):c.988C>T (p.R330*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717498" "0" "30" "1" "43394874" "43394874" "del" "0.000199356" "01943" "SLC2A1_000054" "g.43394874del" "" "" "" "SLC2A1(NM_006516.3):c.972+7delC, SLC2A1(NM_006516.4):c.972+7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717499" "0" "50" "1" "43394881" "43394881" "subst" "0" "02327" "SLC2A1_000155" "g.43394881C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717500" "0" "90" "1" "43394886" "43394890" "del" "0" "02329" "SLC2A1_000123" "g.43394886_43394890del" "" "" "" "SLC2A1(NM_006516.4):c.968_972delTGTCG (p.V323Afs*56)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717501" "0" "70" "1" "43394913" "43394913" "subst" "0" "02329" "SLC2A1_000086" "g.43394913C>T" "" "" "" "SLC2A1(NM_006516.4):c.940G>A (p.G314S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717502" "0" "50" "1" "43424309" "43424309" "subst" "3.23798E-5" "02329" "SLC2A1_000136" "g.43424309C>T" "" "" "" "SLC2A1(NM_006516.4):c.14G>A (p.S5N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787044" "0" "90" "1" "43396797" "43396797" "subst" "0" "00006" "SLC2A1_000160" "g.43396797C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.42931126C>T" "" "pathogenic" "" "0000787045" "0" "70" "1" "43395671" "43395671" "del" "0" "00006" "SLC2A1_000159" "g.43395671del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.553delC" "" "Germline" "" "" "0" "" "" "g.42930000del" "" "likely pathogenic" "" "0000787046" "0" "70" "1" "43395289" "43395289" "del" "0" "00006" "SLC2A1_000158" "g.43395289del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.844delC" "" "Germline" "" "" "0" "" "" "g.42929618del" "" "likely pathogenic" "" "0000787047" "0" "90" "1" "43394680" "43394680" "subst" "0" "00006" "SLC2A1_000146" "g.43394680G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.42929009G>A" "" "pathogenic" "" "0000787048" "0" "70" "1" "43393444" "43393451" "del" "0" "00006" "SLC2A1_000156" "g.43393444_43393451del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.42927773_42927780del" "" "likely pathogenic" "" "0000787402" "0" "50" "1" "43408980" "43408980" "subst" "8.16727E-6" "00006" "SLC2A1_000161" "g.43408980G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs1333609390" "0" "" "" "g.42943309G>A" "" "VUS" "" "0000787403" "0" "50" "1" "43396475" "43396475" "subst" "8.44537E-6" "00006" "SLC2A1_000024" "g.43396475G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs774348625" "0" "" "" "g.42930804G>A" "" "VUS" "" "0000787404" "0" "50" "1" "43394946" "43394946" "subst" "4.07481E-6" "00006" "SLC2A1_000157" "g.43394946C>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs1205631854" "0" "" "" "g.42929275C>A" "{CV-RCV:000520390.1}" "VUS" "" "0000799368" "0" "30" "1" "43395537" "43395537" "subst" "1.2184E-5" "01943" "SLC2A1_000061" "g.43395537C>T" "" "" "" "SLC2A1(NM_006516.3):c.679+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799369" "0" "90" "1" "43395589" "43395589" "subst" "0" "01943" "SLC2A1_000162" "g.43395589G>A" "" "" "" "SLC2A1(NM_006516.3):c.634C>T (p.R212C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799370" "0" "30" "1" "43396545" "43396545" "subst" "5.0819E-5" "01943" "SLC2A1_000108" "g.43396545C>T" "" "" "" "SLC2A1(NM_006516.3):c.276-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799371" "0" "90" "1" "43396718" "43396718" "subst" "0" "02326" "SLC2A1_000031" "g.43396718G>A" "" "" "" "SLC2A1(NM_006516.3):c.274C>T (p.R92W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000839932" "0" "50" "1" "43394595" "43394595" "subst" "0" "01741" "SLC2A1_000164" "g.43394595C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000848742" "0" "50" "1" "43396535" "43396535" "subst" "4.23865E-6" "02327" "SLC2A1_000070" "g.43396535C>T" "" "" "" "SLC2A1(NM_006516.3):c.278G>A (p.R93Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848743" "0" "90" "1" "43396720" "43396720" "subst" "0" "02327" "SLC2A1_000166" "g.43396720C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857500" "0" "50" "1" "43394914" "43394914" "subst" "2.84574E-5" "01943" "SLC2A1_000165" "g.43394914G>A" "" "" "" "SLC2A1(NM_006516.3):c.939C>T (p.S313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000874408" "0" "70" "1" "43393355" "43393355" "subst" "0" "01164" "SLC2A1_000167" "g.43393355C>T" "" "PMID:25487684, PMID:22976442, PMID:21555602" "" "" "ACMG: PS4_MOD, PM1, PM5, PM2_SUP, PP2, PP3" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000911076" "0" "30" "1" "43396470" "43396470" "subst" "2.10954E-5" "02325" "SLC2A1_000168" "g.43396470G>A" "" "" "" "SLC2A1(NM_006516.4):c.343C>T (p.L115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911077" "0" "50" "1" "43396742" "43396742" "subst" "4.06336E-6" "02325" "SLC2A1_000169" "g.43396742C>T" "" "" "" "SLC2A1(NM_006516.4):c.250G>A (p.G84S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923189" "0" "90" "1" "43395556" "43395556" "subst" "0" "02327" "SLC2A1_000170" "g.43395556G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000935907" "0" "90" "1" "43424322" "43424322" "subst" "0" "00006" "SLC2A1_000171" "g.43424322T>C" "" "{PMID:Chuan 2022:35571021}" "" "M1V" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.42958651T>C" "" "pathogenic (dominant)" "" "0000935930" "0" "90" "1" "43395555" "43395555" "subst" "1.21839E-5" "00006" "SLC2A1_000128" "g.43395555C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.42929884C>T" "" "pathogenic (dominant)" "" "0000935972" "0" "90" "1" "43396716" "43396716" "subst" "0" "00006" "SLC2A1_000172" "g.43396716C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PVS1,PS4" "Germline/De novo (untested)" "" "" "0" "" "" "g.42931045C>T" "" "pathogenic (dominant)" "ACMG" "0000939790" "0" "70" "1" "43408909" "43408909" "subst" "0" "00006" "SLC2A1_000173" "g.43408909A>C" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.42943238A>C" "" "likely pathogenic (dominant)" "" "0000961053" "0" "30" "1" "43394618" "43394618" "subst" "0.000386644" "02326" "SLC2A1_000174" "g.43394618G>A" "" "" "" "SLC2A1(NM_006516.3):c.1059C>T (p.I353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961054" "0" "90" "1" "43396417" "43396417" "subst" "0" "02327" "SLC2A1_000175" "g.43396417G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000972033" "11" "70" "1" "43393347" "43393347" "subst" "0" "01164" "SLC2A1_000176" "g.43393347C>G" "" "" "" "" "ACMG: PM1, PM5, PP3_MOD, PM2_SUP; father also affected, co-segregation with disease" "Germline" "yes" "" "" "" "" "g.42927676C>G" "" "likely pathogenic (dominant)" "ACMG" "0000973969" "0" "30" "1" "43392774" "43392774" "subst" "0" "01804" "SLC2A1_000177" "g.43392774T>C" "" "" "" "SLC2A1(NM_006516.4):c.1417A>G (p.(Ser473Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973970" "0" "50" "1" "43392854" "43392854" "subst" "0" "01804" "SLC2A1_000178" "g.43392854A>G" "" "" "" "SLC2A1(NM_006516.4):c.1337T>C (p.(Ile446Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989353" "0" "70" "1" "43393358" "43393358" "subst" "0" "03779" "SLC2A1_000179" "g.43393358G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1643442142" "0" "" "" "" "" "likely pathogenic" "" "0000991297" "0" "10" "1" "43392652" "43392652" "subst" "0" "01804" "SLC2A1_000180" "g.43392652G>A" "" "" "" "SLC2A1(NM_006516.2):c.*60C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991298" "0" "30" "1" "43392894" "43392894" "subst" "8.20049E-6" "01804" "SLC2A1_000181" "g.43392894C>T" "" "" "" "SLC2A1(NM_006516.2):c.1297G>A (p.(Val433Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991299" "0" "70" "1" "43393466" "43393466" "subst" "0" "01804" "SLC2A1_000182" "g.43393466C>T" "" "" "" "SLC2A1(NM_006516.2):c.1088G>A (p.(Trp363*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000991300" "0" "30" "1" "43394900" "43394900" "subst" "1.21929E-5" "01804" "SLC2A1_000183" "g.43394900G>A" "" "" "" "SLC2A1(NM_006516.2):c.953C>T (p.(Thr318Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991301" "0" "30" "1" "43395332" "43395332" "subst" "8.55369E-5" "01804" "SLC2A1_000184" "g.43395332C>T" "" "" "" "SLC2A1(NM_006516.2):c.799G>A (p.(Ala267Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991302" "0" "30" "1" "43396500" "43396500" "subst" "8.46876E-6" "01804" "SLC2A1_000185" "g.43396500C>T" "" "" "" "SLC2A1(NM_006516.2):c.313G>A (p.(Val105Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032059" "0" "50" "1" "43396302" "43396302" "subst" "0" "02325" "SLC2A1_000186" "g.43396302C>T" "" "" "" "SLC2A1(NM_006516.4):c.511G>A (p.A171T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045685" "0" "10" "1" "43393251" "43393252" "ins" "0" "02326" "SLC2A1_000003" "g.43393251_43393252insAAATGGTGAG" "" "" "" "SLC2A1(NM_006516.3):c.1278+30_1278+31insATTTCTCACC, SLC2A1(NM_006516.4):c.1278+24_1278+25insCTCACCATTT, SLC2A1(NM_006516.4):c.1278+24delAinsACTCACC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045686" "0" "10" "1" "43408966" "43408966" "subst" "0.24165" "02326" "SLC2A1_000034" "g.43408966G>A" "" "" "" "SLC2A1(NM_006516.3):c.45C>T (p.A15=), SLC2A1(NM_006516.4):c.45C>T (p.A15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045687" "0" "10" "1" "43424519" "43424519" "subst" "0" "02326" "SLC2A1_000187" "g.43424519T>G" "" "" "" "SLC2A1(NM_006516.3):c.-197A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## 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 SLC2A1 ## Count = 242 "{{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}}" "0000064298" "00018992" "50" "679" "22" "679" "22" "c.679+22C>G" "r.(=)" "p.(=)" "5i" "0000064299" "00018992" "90" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126Cys)" "4" "0000064300" "00018992" "90" "1151" "0" "1151" "0" "c.1151dup" "r.(?)" "p.(Ile386Hisfs*8)" "9" "0000064301" "00018992" "10" "1278" "30" "1278" "31" "c.1278+30_1278+31insATTTCTCACC" "r.(=)" "p.(=)" "9i" "0000064302" "00018992" "90" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Trp)" "4" "0000064303" "00018992" "90" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330*)" "8" "0000064304" "00018992" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Met96Val)" "4" "0000064305" "00018992" "50" "877" "0" "877" "0" "c.877T>C" "r.(?)" "p.(Tyr293His)" "7" "0000064306" "00018992" "50" "92" "0" "92" "0" "c.92G>T" "r.(?)" "p.(Gly31Val)" "2" "0000064307" "00018992" "50" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Val87Ile)" "3" "0000064308" "00018992" "50" "517" "-18" "517" "-18" "c.517-18G>A" "r.(=)" "p.(=)" "4i" "0000064309" "00018992" "50" "275" "61" "275" "61" "c.275+61C>A" "r.(=)" "p.(=)" "3i" "0000064310" "00018992" "10" "588" "0" "588" "0" "c.588G>A" "r.(=)" "p.(=)" "5" "0000064311" "00018992" "50" "741" "0" "741" "0" "c.741G>C" "r.(?)" "p.(Glu247Asp)" "6" "0000064312" "00018992" "10" "27" "0" "27" "0" "c.27G>A" "r.(=)" "p.(=)" "2" "0000064313" "00018992" "90" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Gln305*)" "7" "0000064314" "00018992" "50" "740" "0" "740" "0" "c.740A>T" "r.(?)" "p.(Glu247Val)" "6" "0000064315" "00018992" "50" "517" "0" "517" "0" "c.517G>C" "r.spl?" "p.(Val173Leu)" "5" "0000064316" "00018992" "50" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" "6" "0000064317" "00018992" "50" "1210" "0" "1210" "0" "c.1210A>G" "r.(?)" "p.(Ile404Val)" "9" "0000064318" "00018992" "10" "45" "0" "45" "0" "c.45C>T" "r.(=)" "p.(=)" "2" "0000064319" "00018992" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "3" "0000064320" "00018992" "10" "399" "0" "399" "0" "c.399C>T" "r.(=)" "p.(=)" "4" "0000064321" "00018992" "90" "275" "1" "275" "1" "c.275+1G>C" "r.spl?" "p.?" "3" "0000064322" "00018992" "90" "497" "0" "499" "0" "c.497_499del" "r.(?)" "p.(Val166del)" "4" "0000064323" "00018992" "90" "1189" "0" "1189" "0" "c.1189C>T" "r.(?)" "p.(Gln397*)" "9" "0000064324" "00018992" "90" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Arg333Gln)" "8" "0000064325" "00018992" "90" "929" "0" "929" "0" "c.929C>T" "r.(?)" "p.(Thr310Ile)" "7" "0000064326" "00018992" "50" "312" "0" "312" "0" "c.312C>T" "r.(=)" "p.(=)" "4" "0000064327" "00018992" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "4" "0000064328" "00018992" "50" "972" "26" "972" "26" "c.972+26dup" "r.(=)" "p.(=)" "7i" "0000064329" "00018992" "10" "1501" "0" "1501" "0" "c.*22G>A" "r.(=)" "p.(=)" "10" "0000064330" "00018992" "50" "1407" "0" "1407" "0" "c.1407G>C" "r.(?)" "p.(Gln469His)" "10" "0000064331" "00018992" "10" "777" "0" "777" "0" "c.777C>T" "r.(=)" "p.(=)" "6" "0000079539" "00018992" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200*)" "5" "0000130087" "00018992" "70" "1279" "-2" "1279" "-2" "c.1279-2A>C" "r.spl?" "p.?" "9i" "0000132189" "00018992" "90" "-107" "0" "-107" "0" "c.-107G>A" "r.[-107g>a, 0]" "p.[Met1extMet-36fs*44, 0]" "1" "0000163034" "00018992" "90" "1089" "0" "1089" "0" "c.1089G>A" "r.(?)" "p.(Trp363*)" "9" "0000163209" "00018992" "90" "-107" "0" "-107" "0" "c.-107G>A" "r.(?)" "p.Met1extMet-36fs*44" "1" "0000188198" "00018992" "00" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264His)" "" "0000188264" "00018992" "00" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Val316Ile)" "" "0000188355" "00018992" "00" "1010" "0" "1010" "0" "c.1010A>T" "r.(?)" "p.(His337Leu)" "" "0000188443" "00018992" "00" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Gly233Glu)" "" "0000251226" "00018992" "10" "19" "-207" "19" "-207" "c.19-207T>C" "r.(=)" "p.(=)" "" "0000252020" "00018992" "30" "868" "-108" "868" "-108" "c.868-108T>G" "r.(=)" "p.(=)" "" "0000252021" "00018992" "30" "276" "-7" "276" "-7" "c.276-7T>C" "r.(=)" "p.(=)" "" "0000256298" "00018992" "50" "425" "0" "425" "0" "c.425T>C" "r.(?)" "p.(Met142Thr)" "" "0000295905" "00018992" "10" "1065" "0" "1065" "0" "c.1065A>G" "r.(?)" "p.(Leu355=)" "" "0000295906" "00018992" "10" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(Cys133=)" "" "0000295907" "00018992" "10" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Ala15=)" "" "0000295908" "00018992" "10" "588" "0" "588" "0" "c.588G>A" "r.(?)" "p.(Pro196=)" "" "0000295909" "00018992" "10" "679" "7" "679" "7" "c.679+7G>C" "r.(=)" "p.(=)" "" "0000298280" "00018992" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Ile369=)" "" "0000298282" "00018992" "10" "1278" "30" "1278" "31" "c.1278+30_1278+31insATTTCTCACC" "r.(=)" "p.(=)" "" "0000298283" "00018992" "30" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Thr9=)" "" "0000298284" "00018992" "30" "339" "0" "339" "0" "c.339G>A" "r.(?)" "p.(Ser113=)" "" "0000298285" "00018992" "10" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(Cys133=)" "" "0000298286" "00018992" "10" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Ala15=)" "" "0000298287" "00018992" "10" "588" "0" "588" "0" "c.588G>A" "r.(?)" "p.(Pro196=)" "" "0000298288" "00018992" "50" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264His)" "" "0000299519" "00018992" "90" "19" "-11" "24" "0" "c.19-11_24del" "r.spl?" "p.?" "" "0000299520" "00018992" "70" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Gly175Ser)" "" "0000299521" "00018992" "90" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Thr295Met)" "" "0000302193" "00018992" "10" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(His337=)" "" "0000302194" "00018992" "30" "1065" "0" "1065" "0" "c.1065A>G" "r.(?)" "p.(Leu355=)" "" "0000302195" "00018992" "30" "1074" "115" "1074" "115" "c.1074+115C>T" "r.(=)" "p.(=)" "" "0000302196" "00018992" "30" "1074" "65" "1074" "65" "c.1074+65A>G" "r.(=)" "p.(=)" "" "0000302197" "00018992" "30" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Val391Met)" "" "0000302198" "00018992" "30" "1372" "0" "1372" "0" "c.1372C>A" "r.(?)" "p.(Arg458=)" "" "0000302199" "00018992" "10" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(Phe104=)" "" "0000302200" "00018992" "10" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(Cys133=)" "" "0000302201" "00018992" "10" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(Leu169=)" "" "0000302202" "00018992" "30" "516" "267" "516" "267" "c.516+267A>G" "r.(=)" "p.(=)" "" "0000302203" "00018992" "30" "517" "-18" "517" "-18" "c.517-18G>A" "r.(=)" "p.(=)" "" "0000302204" "00018992" "10" "588" "0" "588" "0" "c.588G>A" "r.(?)" "p.(Pro196=)" "" "0000302205" "00018992" "30" "679" "4" "679" "4" "c.679+4C>T" "r.spl?" "p.?" "" "0000302206" "00018992" "10" "679" "7" "679" "7" "c.679+7G>A" "r.(=)" "p.(=)" "" "0000302207" "00018992" "30" "679" "7" "679" "7" "c.679+7G>C" "r.(=)" "p.(=)" "" "0000302208" "00018992" "30" "679" "7" "679" "7" "c.679+7G>T" "r.(=)" "p.(=)" "" "0000302209" "00018992" "30" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(Ile259=)" "" "0000302210" "00018992" "30" "864" "0" "864" "0" "c.864C>T" "r.(?)" "p.(Asn288=)" "" "0000302211" "00018992" "10" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(Val322=)" "" "0000302212" "00018992" "90" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Ser324Leu)" "" "0000302213" "00018992" "30" "972" "7" "972" "7" "c.972+7del" "r.(=)" "p.(=)" "" "0000302214" "00018992" "10" "973" "-17" "973" "-17" "c.973-17A>G" "r.(=)" "p.(=)" "" "0000302215" "00018992" "90" "985" "0" "985" "0" "c.985G>C" "r.(?)" "p.(Glu329Gln)" "" "0000308372" "00018992" "10" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(His337=)" "" "0000308373" "00018992" "30" "138" "0" "138" "0" "c.138G>C" "r.(?)" "p.(Gln46His)" "" "0000308374" "00018992" "70" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93Gln)" "" "0000308375" "00018992" "30" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Thr9=)" "" "0000308376" "00018992" "10" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(Cys133=)" "" "0000308377" "00018992" "10" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Ala15=)" "" "0000308378" "00018992" "10" "588" "0" "588" "0" "c.588G>A" "r.(?)" "p.(Pro196=)" "" "0000308379" "00018992" "30" "679" "4" "679" "4" "c.679+4C>T" "r.spl?" "p.?" "" "0000308380" "00018992" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Gln25Ter)" "" "0000308381" "00018992" "10" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(Val322=)" "" "0000320767" "00018992" "50" "601" "0" "601" "0" "c.601T>G" "r.(?)" "p.(Cys201Gly)" "" "0000338086" "00018992" "10" "973" "-17" "973" "-17" "c.973-17A>G" "r.(=)" "p.(=)" "" "0000338087" "00018992" "10" "679" "7" "679" "7" "c.679+7G>C" "r.(=)" "p.(=)" "" "0000338088" "00018992" "30" "276" "-8" "276" "-8" "c.276-8G>A" "r.(=)" "p.(=)" "" "0000338089" "00018992" "50" "276" "-14" "276" "-14" "c.276-14G>A" "r.(=)" "p.(=)" "" "0000339102" "00018992" "90" "1257" "0" "1257" "0" "c.1257C>T" "r.(?)" "p.(Gly419=)" "" "0000340073" "00018992" "10" "588" "0" "588" "0" "c.588G>A" "r.(?)" "p.(Pro196=)" "" "0000340074" "00018992" "10" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Ala15=)" "" "0000340809" "00018992" "10" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(His337=)" "" "0000340852" "00018992" "10" "1065" "0" "1065" "0" "c.1065A>G" "r.(?)" "p.(Leu355=)" "" "0000340900" "00018992" "30" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(Pro208=)" "" "0000341033" "00018992" "10" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Thr9=)" "" "0000341192" "00018992" "90" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Ala155Val)" "" "0000341328" "00018992" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000341457" "00018992" "50" "1390" "0" "1390" "0" "c.1390G>C" "r.(?)" "p.(Ala464Pro)" "" "0000341819" "00018992" "90" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126Cys)" "" "0000341977" "00018992" "90" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Arg153His)" "" "0000342245" "00018992" "90" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "" "0000342678" "00018992" "90" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Arg333Gln)" "" "0000342819" "00018992" "90" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "0000343048" "00018992" "50" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(Arg51Cys)" "" "0000343723" "00018992" "90" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Asn34Ser)" "" "0000344007" "00018992" "90" "706" "0" "706" "0" "c.706del" "r.(?)" "p.(Asp236ThrfsTer2)" "" "0000344260" "00018992" "90" "399" "0" "399" "0" "c.399C>A" "r.(?)" "p.(Cys133Ter)" "" "0000344261" "00018992" "10" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(Cys133=)" "" "0000345250" "00018992" "90" "661" "0" "661" "0" "c.661G>T" "r.(?)" "p.(Glu221Ter)" "" "0000345695" "00018992" "70" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Gly130Ser)" "" "0000345982" "00018992" "90" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Gly314Ser)" "" "0000346042" "00018992" "90" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Gly382Asp)" "" "0000346634" "00018992" "90" "647" "0" "647" "0" "c.647T>C" "r.(?)" "p.(Ile216Thr)" "" "0000346995" "00018992" "90" "641" "0" "641" "0" "c.641T>C" "r.(?)" "p.(Leu214Pro)" "" "0000347836" "00018992" "90" "1259" "0" "1259" "0" "c.1259T>G" "r.(?)" "p.(Met420Arg)" "" "0000347898" "00018992" "50" "229" "0" "229" "0" "c.229A>G" "r.(?)" "p.(Met77Val)" "" "0000349420" "00018992" "90" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Thr295Met)" "" "0000349439" "00018992" "90" "929" "0" "929" "0" "c.929C>T" "r.(?)" "p.(Thr310Ile)" "" "0000349516" "00018992" "50" "1313" "0" "1313" "0" "c.1313C>G" "r.(?)" "p.(Thr438Ser)" "" "0000349791" "00018992" "90" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.(Trp388Ter)" "" "0000349798" "00018992" "90" "1235" "0" "1235" "0" "c.1235G>A" "r.(?)" "p.(Trp412Ter)" "" "0000349836" "00018992" "90" "195" "0" "195" "0" "c.195G>C" "r.(?)" "p.(Trp65Cys)" "" "0000350095" "00018992" "90" "1296" "0" "1296" "0" "c.1296C>A" "r.(?)" "p.(Tyr432Ter)" "" "0000350289" "00018992" "50" "418" "0" "418" "0" "c.418G>T" "r.(?)" "p.(Val140Leu)" "" "0000350290" "00018992" "50" "418" "0" "418" "0" "c.418G>C" "r.(?)" "p.(Val140Leu)" "" "0000350477" "00018992" "10" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(Val322=)" "" "0000350516" "00018992" "90" "1126" "0" "1126" "0" "c.1126G>C" "r.(?)" "p.(Val376Leu)" "" "0000351192" "00018992" "90" "680" "-2" "680" "-2" "c.680-2A>G" "r.spl?" "p.?" "" "0000351193" "00018992" "90" "276" "-2" "276" "-2" "c.276-2A>C" "r.spl?" "p.?" "" "0000404714" "00018992" "90" "470" "0" "470" "0" "c.470dup" "r.(?)" "p.(Thr158Hisfs*79)" "4" "0000437556" "00018992" "90" "311" "0" "311" "0" "c.311dup" "r.(?)" "p.(Val105Argfs*16)" "" "0000478743" "00018992" "50" "692" "0" "692" "0" "c.692T>C" "r.(?)" "p.(Leu231Pro)" "" "0000507497" "00018992" "50" "1408" "0" "1408" "0" "c.1408G>A" "r.(?)" "p.(Gly470Arg)" "" "0000507498" "00018992" "30" "1408" "0" "1408" "0" "c.1408G>A" "r.(?)" "p.(Gly470Arg)" "" "0000507499" "00018992" "30" "1396" "0" "1396" "0" "c.1396G>A" "r.(?)" "p.(Gly466Ser)" "" "0000507500" "00018992" "10" "1372" "0" "1372" "0" "c.1372C>A" "r.(?)" "p.(Arg458=)" "" "0000507502" "00018992" "30" "1296" "0" "1296" "0" "c.1296C>T" "r.(?)" "p.(Tyr432=)" "" "0000507503" "00018992" "10" "1296" "0" "1296" "0" "c.1296C>T" "r.(?)" "p.(Tyr432=)" "" "0000507504" "00018992" "30" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Val391Met)" "" "0000507505" "00018992" "10" "1170" "0" "1170" "0" "c.1170C>T" "r.(?)" "p.(Ile390=)" "" "0000507506" "00018992" "50" "1031" "0" "1031" "0" "c.1031T>C" "r.(?)" "p.(Met344Thr)" "" "0000507507" "00018992" "10" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(His337=)" "" "0000507508" "00018992" "10" "972" "7" "972" "7" "c.972+7del" "r.(=)" "p.(=)" "" "0000507511" "00018992" "10" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(Val322=)" "" "0000507512" "00018992" "90" "868" "-2" "868" "-2" "c.868-2A>G" "r.spl?" "p.?" "" "0000507513" "00018992" "90" "833" "0" "833" "0" "c.833T>C" "r.(?)" "p.(Leu278Pro)" "" "0000507514" "00018992" "30" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269Cys)" "" "0000507515" "00018992" "30" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(Ile259=)" "" "0000507516" "00018992" "70" "689" "0" "691" "0" "c.689_691del" "r.(?)" "p.(Lys230_Leu231delinsMet)" "" "0000507517" "00018992" "30" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "0000507518" "00018992" "50" "601" "0" "601" "0" "c.601T>G" "r.(?)" "p.(Cys201Gly)" "" "0000507519" "00018992" "50" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.(Gly181=)" "" "0000507520" "00018992" "90" "517" "-1" "517" "-1" "c.517-1G>T" "r.spl?" "p.?" "" "0000507521" "00018992" "70" "517" "-1" "517" "-1" "c.517-1G>C" "r.spl?" "p.?" "" "0000507522" "00018992" "90" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153Cys)" "" "0000507523" "00018992" "90" "377" "0" "377" "0" "c.377G>A" "r.(?)" "p.(Arg126His)" "" "0000507524" "00018992" "70" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Trp)" "" "0000507525" "00018992" "30" "276" "-7" "276" "-7" "c.276-7T>C" "r.(=)" "p.(=)" "" "0000507526" "00018992" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000507527" "00018992" "50" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89Cys)" "" "0000507529" "00018992" "30" "18" "5" "18" "5" "c.18+5G>A" "r.spl?" "p.?" "" "0000507531" "00018992" "90" "-107" "0" "-107" "0" "c.-107G>A" "r.(?)" "p.(=)" "" "0000605769" "00018992" "90" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Trp)" "" "0000605770" "00018992" "70" "114" "1" "114" "1" "c.114+1G>A" "r.spl?" "p.?" "" "0000605771" "00018992" "50" "46" "0" "46" "0" "c.46G>A" "r.(?)" "p.(Val16Met)" "" "0000630872" "00018992" "70" "710" "0" "711" "0" "c.710_711dup" "r.(?)" "p.(Thr238*)" "" "0000647699" "00018992" "30" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Val406Ile)" "" "0000647700" "00018992" "70" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Val328Leu)" "" "0000647701" "00018992" "90" "18" "1" "18" "1" "c.18+1G>A" "r.spl?" "p.?" "" "0000654042" "00018992" "30" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(Leu169=)" "" "0000654043" "00018992" "70" "26" "0" "26" "0" "c.26C>T" "r.(?)" "p.(Thr9Met)" "" "0000659580" "00018992" "50" "766" "0" "768" "0" "c.766_768del" "r.(?)" "p.(Lys256del)" "" "0000660578" "00018992" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Gln242*)" "" "0000660596" "00018992" "70" "1412" "0" "1412" "0" "c.1412del" "r.(?)" "p.(Gly471Glufs*37)" "" "0000663270" "00018992" "90" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333Trp)" "" "0000673706" "00018992" "90" "1058" "0" "1061" "0" "c.1058_1061del" "r.(?)" "p.(Ile353Serfs*2)" "" "0000675853" "00018992" "30" "18" "5" "18" "5" "c.18+5G>A" "r.spl?" "p.?" "" "0000683388" "00018992" "70" "767" "0" "767" "0" "c.767A>T" "r.(?)" "p.(Lys256Met)" "" "0000683389" "00018992" "70" "766" "0" "766" "0" "c.766A>G" "r.(?)" "p.(Lys256Glu)" "" "0000683390" "00018992" "70" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000717494" "00018992" "50" "1408" "0" "1408" "0" "c.1408G>C" "r.(?)" "p.(Gly470Arg)" "" "0000717495" "00018992" "30" "1395" "0" "1395" "0" "c.1395C>T" "r.(?)" "p.(Ser465=)" "" "0000717496" "00018992" "70" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "" "0000717497" "00018992" "90" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330*)" "" "0000717498" "00018992" "30" "972" "7" "972" "7" "c.972+7del" "r.(=)" "p.(=)" "" "0000717499" "00018992" "50" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Ser324=)" "" "0000717500" "00018992" "90" "968" "0" "972" "0" "c.968_972del" "r.(?)" "p.(Val323AlafsTer56)" "" "0000717501" "00018992" "70" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Gly314Ser)" "" "0000717502" "00018992" "50" "14" "0" "14" "0" "c.14G>A" "r.(?)" "p.(Ser5Asn)" "" "0000787044" "00018992" "90" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Trp65Ter)" "3" "0000787045" "00018992" "70" "553" "0" "553" "0" "c.553del" "r.(?)" "p.(Leu185CysfsTer6)" "5" "0000787046" "00018992" "70" "844" "0" "844" "0" "c.844del" "r.(?)" "p.(Gln282SerfsTer58)" "6" "0000787047" "00018992" "90" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333Trp)" "8" "0000787048" "00018992" "70" "1105" "0" "1112" "0" "c.1105_1112del" "r.(?)" "p.(Ile369HisfsTer9)" "9" "0000787402" "00018992" "50" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Cys)" "2" "0000787403" "00018992" "50" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "4" "0000787404" "00018992" "50" "907" "0" "907" "0" "c.907G>T" "r.(?)" "p.(Val303Leu)" "7" "0000799368" "00018992" "30" "679" "7" "679" "7" "c.679+7G>A" "r.(=)" "p.(=)" "" "0000799369" "00018992" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "" "0000799370" "00018992" "30" "276" "-8" "276" "-8" "c.276-8G>A" "r.(=)" "p.(=)" "" "0000799371" "00018992" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000839932" "00018992" "50" "1074" "8" "1074" "8" "c.1074+8G>A" "r.(?)" "p.(=)" "" "0000848742" "00018992" "50" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93Gln)" "" "0000848743" "00018992" "90" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Gly91Asp)" "" "0000857500" "00018992" "50" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ser313=)" "" "0000874408" "00018992" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "0000911076" "00018992" "30" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Leu115=)" "" "0000911077" "00018992" "50" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Gly84Ser)" "" "0000923189" "00018992" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" "0000935907" "00018992" "90" "1" "0" "1" "0" "c.1A>G" "r.?" "p.?" "" "0000935930" "00018992" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "0000935972" "00018992" "90" "275" "1" "275" "1" "c.275+1G>A" "r.spl" "p.?" "" "0000939790" "00018992" "70" "102" "0" "102" "0" "c.102T>G" "r.(?)" "p.(Asn34Lys)" "2" "0000961053" "00018992" "30" "1059" "0" "1059" "0" "c.1059C>T" "r.(?)" "p.(=)" "" "0000961054" "00018992" "90" "396" "0" "396" "0" "c.396C>G" "r.(?)" "p.(Tyr132*)" "" "0000972033" "00018992" "70" "1207" "0" "1207" "0" "c.1207G>C" "r.(?)" "p.(Ala403Pro)" "" "0000973969" "00018992" "30" "1417" "0" "1417" "0" "c.1417A>G" "r.(?)" "p.(Ser473Gly)" "" "0000973970" "00018992" "50" "1337" "0" "1337" "0" "c.1337T>C" "r.(?)" "p.(Ile446Thr)" "" "0000989353" "00018992" "70" "1196" "0" "1196" "0" "c.1196C>G" "r.(?)" "p.(Pro399Arg)" "" "0000991297" "00018992" "10" "1539" "0" "1539" "0" "c.*60C>T" "r.(=)" "p.(=)" "" "0000991298" "00018992" "30" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Val433Ile)" "" "0000991299" "00018992" "70" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Trp363*)" "" "0000991300" "00018992" "30" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Thr318Met)" "" "0000991301" "00018992" "30" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Ala267Thr)" "" "0000991302" "00018992" "30" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Val105Met)" "" "0001032059" "00018992" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "" "0001045685" "00018992" "10" "1278" "30" "1278" "31" "c.1278+30_1278+31insATTTCTCACC" "r.(=)" "p.(=)" "" "0001045686" "00018992" "10" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Ala15=)" "" "0001045687" "00018992" "10" "-197" "0" "-197" "0" "c.-197A>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 72 "{{screeningid}}" "{{variantid}}" "0000037173" "0000064298" "0000037174" "0000064299" "0000037175" "0000064300" "0000037176" "0000064301" "0000037177" "0000064302" "0000037178" "0000064303" "0000037179" "0000064304" "0000037180" "0000064305" "0000037181" "0000064306" "0000037182" "0000064307" "0000037183" "0000064308" "0000037184" "0000064309" "0000037185" "0000064310" "0000037186" "0000064311" "0000037187" "0000064312" "0000037188" "0000064313" "0000037189" "0000064314" "0000037190" "0000064315" "0000037191" "0000064316" "0000037192" "0000064317" "0000037193" "0000064318" "0000037194" "0000064319" "0000037195" "0000064320" "0000037196" "0000064321" "0000037197" "0000064322" "0000037198" "0000064323" "0000037199" "0000064324" "0000037200" "0000064325" "0000037201" "0000064326" "0000037202" "0000064327" "0000037203" "0000064328" "0000037204" "0000064329" "0000037205" "0000064330" "0000037206" "0000064331" "0000050559" "0000079539" "0000081001" "0000130087" "0000081533" "0000132189" "0000100683" "0000163034" "0000117287" "0000188443" "0000117353" "0000188198" "0000117419" "0000188264" "0000117520" "0000188355" "0000181078" "0000404714" "0000207850" "0000437556" "0000235505" "0000478743" "0000276739" "0000630872" "0000291010" "0000647699" "0000291011" "0000647700" "0000291012" "0000647701" "0000296928" "0000659580" "0000297878" "0000660578" "0000297896" "0000660596" "0000300556" "0000663270" "0000307141" "0000673706" "0000308954" "0000683388" "0000308955" "0000683389" "0000308956" "0000683390" "0000375693" "0000787044" "0000375694" "0000787045" "0000375695" "0000787046" "0000375696" "0000787047" "0000375697" "0000787048" "0000376051" "0000787402" "0000376052" "0000787403" "0000376053" "0000787404" "0000404283" "0000839932" "0000416363" "0000874408" "0000439778" "0000935907" "0000439801" "0000935930" "0000439843" "0000935972" "0000441848" "0000939790" "0000450098" "0000972033"