### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MED13L) # 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}}" "MED13L" "mediator complex subunit 13-like" "12" "q24.22" "unknown" "NG_023366.1" "UD_132118358478" "" "https://www.LOVD.nl/MED13L" "" "1" "22962" "23389" "608771" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/MED13L_codingDNA.html" "1" "" "" "-1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-03-21 09:23:22" "00006" "2025-08-26 16:14:27" ## 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}}" "00011962" "MED13L" "mediator complex subunit 13-like" "001" "NM_015335.4" "" "NP_056150.1" "" "" "" "-55" "9323" "6633" "116714991" "116396381" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02796" "DTGA1" "arteries, great, transposition, dextro-looped (DTGA)" "AD" "608808" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05422" "MRFACD" "mental retardation, distinctive facial features with/without cardiac defects" "AD" "616789" "" "autosomal dominant" "" "00006" "2018-05-04 13:48:09" "00006" "2021-12-10 21:51:32" "05423" "DTGA" "arteries, great, transposition, dextro-looped" "" "" "" "autosomal dominant" "" "00006" "2018-05-04 13:49:53" "00006" "2022-03-21 09:22:55" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MED13L" "05422" "MED13L" "05423" ## Individuals ## Do not remove or alter this header ## ## Count = 36 "{{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}}" "00019865" "" "" "" "1" "" "00778" "{PMID:Cafiero 2015:25712080}, {DOI:Cafiero 2015:10.1038/ejhg.2015.19}" "" "F" "no" "Italy" ">08y" "0" "" "" "white" "" "00019867" "" "" "" "1" "" "00778" "{PMID:Cafiero 2015:25712080}, {DOI:Cafiero 2015:10.1038/ejhg.2015.19}" "" "F" "no" "Italy" ">03y" "0" "" "" "white" "" "00019868" "" "" "" "1" "" "00778" "{PMID:Cafiero 2015:25712080}, {DOI:Cafiero 2015:10.1038/ejhg.2015.19}" "" "F" "no" "United States" ">12y" "0" "" "" "African american, mexican, philippino" "" "00019870" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00050408" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050494" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050512" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050541" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050622" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050637" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00102096" "" "" "" "1" "" "01864" "" "" "M" "no" "China" ">02y" "" "" "" "" "P26" "00111396" "" "" "" "1" "" "00729" "{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}" "" "M" "no" "" "" "0" "" "" "" "S_039" "00111397" "" "" "" "1" "" "00729" "{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}" "" "M" "" "" "" "0" "" "" "" "S_068" "00163933" "" "" "" "1" "" "02464" "" "" "M" "no" "Poland" "07y" "0" "" "" "" "" "00183671" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat16" "00183672" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat17" "00276039" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00276040" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00295576" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00296765" "" "" "" "1" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "APN-14" "00302771" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}" "" "F" "" "Canada" "" "0" "" "" "" "820.316" "00306253" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00313946" "" "" "" "1" "" "00006" "{PMID:Van Haelst 2015:24781760}, {DOI:Van Haelst 2015:10.1038/ejhg.2014.69}" "" "F" "" "" "" "0" "" "" "white" "Pat1" "00313947" "" "" "" "1" "" "00006" "{PMID:Van Haelst 2015:24781760}, {DOI:Van Haelst 2015:10.1038/ejhg.2014.69}" "" "F" "" "" "" "0" "" "" "" "Pat2" "00313948" "" "" "" "1" "" "00006" "{PMID:Asadollahi 2013:23403903}, {DOI:Asadollahi 2013:10.1038/ejhg.2013.17}" "" "F" "" "" "" "0" "" "" "" "Pat1" "00313949" "" "" "" "1" "" "00006" "{PMID:Asadollahi 2013:23403903}, {DOI:Asadollahi 2013:10.1038/ejhg.2013.17}" "" "F" "" "" "" "0" "" "" "" "Pat2" "00313950" "" "" "" "1" "" "00006" "{PMID:Asadollahi 2013:23403903}, {DOI:Asadollahi 2013:10.1038/ejhg.2013.17}" "" "F" "" "" "" "0" "" "" "" "Pat3" "00315485" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00399284" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "188556" "00401637" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "191P" "00424041" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "208666" "00438697" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0725" "00440430" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3340.1" "00452930" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00457918" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "0" "" "" "white" "" "00459431" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00019865" "00139" "00019867" "00139" "00019867" "00152" "00019868" "00139" "00019870" "00139" "00050408" "00198" "00050494" "00198" "00050512" "00198" "00050541" "00198" "00050622" "00198" "00050637" "00198" "00102096" "00139" "00111396" "02796" "00111397" "02796" "00163933" "00198" "00183671" "00139" "00183672" "00139" "00276039" "00198" "00276040" "00198" "00295576" "00198" "00296765" "00139" "00302771" "00139" "00306253" "00198" "00313946" "00198" "00313947" "00198" "00313948" "00198" "00313949" "00198" "00313950" "00198" "00315485" "00198" "00399284" "05422" "00401637" "00139" "00424041" "05422" "00438697" "06906" "00440430" "00198" "00452930" "00198" "00457918" "05611" "00459431" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00152, 00198, 02796, 05422, 05423, 05611, 06906 ## Count = 36 "{{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}}" "0000017593" "00139" "00019865" "00778" "Isolated (sporadic)" "08y" "brachycephaly, no high forehead, no bitemporal narrowing, horizontal eyebrows, weak upslanting of palpebral fissures, weak synophrys, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, no cupid-bow upper lip, thin vermilion border, prognathism, large ears/thickened helices; no open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; moderate intellectual disability/developmental delay; motor delay; severe speech impairment; hypotonia; ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly; cleft palate; club foot; ALL; hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000017596" "00139" "00019867" "00778" "Isolated (sporadic)" "03y" "brachycephaly, high forehead, bitemporal narrowing, horizontal eyebrows, upslanting of palpebral fissures, synophrys, epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; developmental delay; motor delay; no motor delay; no severe speech impairment; no hypotonia; no ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly" "" "" "" "" "" "" "" "" "" "" "" "0000017597" "00152" "00019867" "00778" "Isolated (sporadic)" "" "Open foramen ovale" "" "" "" "" "" "" "" "" "" "" "" "0000017598" "00139" "00019868" "00778" "Isolated (sporadic)" "12y" "no brachycephaly, high forehead, no bitemporal narrowing, no horizontal eyebrows, upslanting of palpebral fissures, synophrys, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; no open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; moderate intellectual disability/developmental delay; motor delay; no motor delay; no hypotonia; mild ataxia/motor incoordination; choreiform movements; seizures; brain anomalies; no brain anomalies; macrocephaly; central obesity; cubitus valgus" "" "" "" "" "" "" "" "" "" "" "" "0000017600" "00139" "00019870" "00705" "Unknown" "?" "feeding problems, epilepsy, IQ 50, small dysplastic low-set ears, a bulbous nasal tip a large mouth and a simean crease of his right hand" "" "" "" "" "" "" "" "" "" "" "" "0000037020" "00198" "00050408" "00006" "Isolated (sporadic)" "" "duane anomaly, delayed speech and language development, global developmental delay, hypoplastic toenails, abnormal facial shape, autism" "" "" "" "" "" "" "" "" "" "" "" "0000037106" "00198" "00050494" "00006" "Isolated (sporadic)" "" "generalized neonatal hypotonia, abnormality of calvarial morphology, strabismus, delayed gross motor development, upslanted palpebral fissure, epicanthus, diffuse cerebral atrophy, increased body weight, bilateral conductive hearing impairment, bilateral sensorineural hearing impairment, inverted nipples, intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "0000037124" "00198" "00050512" "00006" "Isolated (sporadic)" "" "abnormality of the tongue, global developmental delay, delayed speech and language development, narrow forehead, hypertelorism, flat forehead, aggressive behavior, difficulty running" "" "" "" "" "" "" "" "" "" "" "" "0000037153" "00198" "00050541" "00006" "Isolated (sporadic)" "" "global developmental delay, microcephaly, glabellar hemangioma, preauricular skin tag, hypoplastic nostrils, micrognathia, growth delay, inguinal hernia, agenesis of corpus callosum" "" "" "" "" "" "" "" "" "" "" "" "0000037234" "00198" "00050622" "00006" "Isolated (sporadic)" "" "global developmental delay, talipes, inguinal hernia, abnormal facial shape, cryptorchidism, abnormality of toe, cortical dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000037249" "00198" "00050637" "00006" "Isolated (sporadic)" "" "microcephaly, low posterior hairline, high anterior hairline, downslanted palpebral fissures, bilateral ptosis, convex nasal ridge, abnormality of the mouth, bifid uvula, abnormality of earlobe, distal arthrogryposis, inverted nipples, abnormality of the hallux" "" "" "" "" "" "" "" "" "" "" "" "0000080280" "00139" "00102096" "01864" "Isolated (sporadic)" "" "HP:0001510; HP:0100867; HP:0001734; HP:0001680; HP:0001643; HP:0001633; HP:0001631; global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000087481" "02796" "00111396" "00729" "Isolated (sporadic)" "" "Moderate ID, attention difficulties, strabismus, hypotonia, cryptorchidism" "" "" "" "" "" "" "" "" "" "" "" "0000087482" "02796" "00111397" "00729" "Isolated (sporadic)" "" "Hypotonia, hyperopia, moderate ID, depression, developmental regression" "" "" "" "" "" "" "" "" "" "" "" "0000129044" "00198" "00163933" "02464" "-" "07y" "HP:0010864 intellectual disability, severe; HP:0001263 delayed psychomotor development; HP:0000252 microcephaly; HP:0001344 absent speech; HP:0001276 hypertonia; HP:0008936 axial hypotonia; HP:0002090 pneumonia; HP:0002119 enlarged cerebral ventricles; HP:0001999 facial dysmorphism; HP:0000565 esotropia; HP:0000733 stereotypy; HP:0100716 self-injurious behavior" "" "00y08m" "" "" "" "" "" "" "MRFACD" "MED13L haploinsufficiency" "" "0000144357" "00139" "00183671" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MRFACD" "intellectual disability" "" "0000144358" "00139" "00183672" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MRFACD" "intellectual disability" "" "0000210595" "00198" "00276039" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Ptosis (HP:0000508); Asymmetric growth (HP:0100555)" "" "" "" "" "" "" "" "" "" "" "" "0000210596" "00198" "00276040" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Facial hypotonia (HP:0000297); Aggressive behavior (HP:0000718)" "" "" "" "" "" "" "" "" "" "" "" "0000223141" "00198" "00295576" "01164" "Unknown" "" "Delayed social development (HP:0012434); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Motor delay (HP:0001270); Broad-based gait (HP:0002136); Recurrent upper respiratory tract infections (HP:0002788); Epicanthus (HP:0000286); Hypertelorism (HP:0000316); Astigmatism (HP:0000483); Hypermetropia (HP:0000540); Prolonged neonatal jaundice (HP:0006579); Delayed speech and language development (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000224164" "00139" "00296765" "00006" "Familial, autosomal dominant" "" "moderate intellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000229853" "00139" "00302771" "00006" "Isolated (sporadic)" "7y" "moderate intellectual disability; speech delay; walk-3y; no epilepsy; no autistic features; no microcephaly; no macrocephaly; CT brain increased CSF spaces; no neurological abnormalities; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities; overweight" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000232099" "00198" "00306253" "01807" "Unknown" "" "Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252); Microcephaly (HP:0000252); Duane anomaly (HP:0009921); Bifid uvula (HP:0000193); Astigmatism (HP:0000483); Renal hypoplasia (HP:0000089)" "" "" "" "" "" "" "" "" "" "" "" "0000238246" "00198" "00313946" "00006" "Isolated (sporadic)" "" "high forehead, no horizontal eyebrows, upslanting of palpebral fissures, no synophrys, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, no prognathism, large ears/thickened helices; no open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; developmental delay; motor delay; no hypotonia; no seizures; no brain anomalies; no microcephaly; no macrocephaly; accessory nipples; macroglossia" "" "" "" "" "" "" "" "" "" "" "" "0000238247" "00198" "00313947" "00006" "Isolated (sporadic)" "" "high forehead, no horizontal eyebrows, no upslanting of palpebral fissures, no synophrys, depressed nasal bridge, no bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, no prognathism; open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; intellectual disability/developmental delay; motor delay; severe speech impairment; no hypotonia; no seizures; no microcephaly; mild macrocephaly" "" "" "" "" "" "" "" "" "" "" "" "0000238248" "00198" "00313948" "00006" "Isolated (sporadic)" "07y" "no brachycephaly, high forehead, bitemporal narrowing, no horizontal eyebrows, upslanting of palpebral fissures, no synophrys, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; no open foramen ovale, ventricular septal defect, no coarctation of the aorta, pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, supracardial total anomalous pulmonary venous connection; moderate intellectual disability/developmental delay; motor delay; severe speech impairment; hypotonia; ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly; macroglossia" "" "" "" "" "" "" "" "" "" "" "" "0000238249" "00198" "00313949" "00006" "Isolated (sporadic)" "" "no brachycephaly, high forehead, bitemporal narrowing, horizontal eyebrows, upslanting of palpebral fissures, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; developmental delay; motor delay; severe speech impairment; hypotonia; no ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly; bowed legs" "" "" "" "" "" "" "" "" "" "" "" "0000238250" "00198" "00313950" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000239236" "00198" "00315485" "01807" "Unknown" "" "Self-mutilation (HP:0000742); Hirsutism (HP:0001007); Global developmental delay (HP:0001263); Abnormal facial shape (HP:0001999); Progressive language deterioration (HP:0007064)" "" "" "" "" "" "" "" "" "" "" "" "0000292401" "05422" "00399284" "01164" "Unknown" "" "Intellectual disability, Abnormal chromosome morphology, differential diagnosis initially down-syndrome" "" "42y" "" "" "" "" "" "" "" "" "" "0000315248" "05422" "00424041" "01164" "Isolated (sporadic)" "02y" "Epicanthus, Delayed speech and language development, Metatarsus adductus, Motor delay, Gliosis, Axial hypotonia, Broad-based gait, Global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328600" "06906" "00438697" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000330340" "00198" "00440430" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Mental retardation and distinctive facial features with or without cardiac defects (MIM #616789)" "" "" "0000341573" "00198" "00452930" "03544" "Isolated (sporadic)" "" "HP:0001263, HP:0001601, HP:0040196, HP:0002020, HP:0000286, HP:0000708" "" "" "" "" "" "" "" "" "MRFACD" "neurodevelopmental disorder" "" "0000346368" "05611" "00457918" "03544" "Isolated (sporadic)" "" "HP:0001513, HP:0002342, HP:0000098" "" "" "" "" "" "" "" "" "MRFACD" "neurodevelopmental disorder" "" "0000347507" "00198" "00459431" "03544" "Isolated (sporadic)" "" "HP:0000201, HP:0001159, HP:0000047, HP:0000365, HP:0004322, HP:0001249, HP:0000271" "" "" "" "" "" "" "" "" "MRFACD" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019856" "00019865" "1" "00778" "00778" "2014-09-09 20:20:47" "00006" "2014-09-21 11:06:57" "SEQ;SEQ-NG-I" "DNA" "peripheral blood cells" "" "0000019860" "00019867" "1" "00778" "00778" "2014-09-09 20:46:45" "" "" "SEQ" "DNA" "peripheral blood cells" "" "0000019861" "00019868" "1" "00778" "00778" "2014-09-09 20:57:10" "00006" "2014-09-21 11:11:24" "SEQ;SEQ-NG" "DNA" "" "" "0000019864" "00019870" "1" "00705" "00705" "2014-09-10 09:39:11" "00006" "2014-11-07 22:40:43" "SEQ" "DNA" "" "" "0000050353" "00050408" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050439" "00050494" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050457" "00050512" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050486" "00050541" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050567" "00050622" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050582" "00050637" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000102547" "00102096" "1" "01864" "01864" "2017-03-30 10:49:09" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "" "0000111861" "00111396" "1" "00729" "00729" "2017-08-03 00:55:36" "" "" "SEQ-NG" "DNA" "" "" "0000111862" "00111397" "1" "00729" "00729" "2017-08-03 00:57:59" "" "" "SEQ-NG" "DNA" "" "" "0000164796" "00163933" "1" "02464" "02464" "2018-04-27 11:49:09" "" "" "SEQ-NG" "DNA" "peripheral blood cells" "WES (19/41)" "0000164797" "00163933" "1" "02464" "02464" "2018-04-27 12:06:18" "" "" "PCR" "DNA" "peripheral blood cells" "" "0000184639" "00183671" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel" "0000184640" "00183672" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel" "0000277186" "00276039" "1" "01807" "01807" "2020-01-24 11:02:38" "" "" "SEQ" "DNA" "" "" "0000277187" "00276040" "1" "01807" "01807" "2020-01-24 11:02:40" "" "" "SEQ" "DNA" "" "" "0000296746" "00295576" "1" "01164" "01164" "2020-03-18 10:48:47" "" "" "SEQ-NG-S" "DNA" "" "" "0000297875" "00296765" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "220-gene ID panel" "0000303897" "00302771" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000307389" "00306253" "1" "01807" "01807" "2020-07-13 13:23:01" "" "" "SEQ" "DNA" "" "" "0000315119" "00313946" "1" "00006" "00006" "2020-10-08 11:12:51" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000315120" "00313947" "1" "00006" "00006" "2020-10-08 11:16:50" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES, Agilent 180 K oligo-array" "0000315121" "00313948" "1" "00006" "00006" "2020-10-08 11:25:41" "" "" "arrayCGH;MLPA" "DNA" "" "" "0000315122" "00313949" "1" "00006" "00006" "2020-10-08 11:34:48" "" "" "arrayCGH" "DNA" "" "Agilent 60 K Microarray" "0000315123" "00313950" "1" "00006" "00006" "2020-10-08 11:42:34" "" "" "arrayCGH" "DNA" "" "" "0000316662" "00315485" "1" "01807" "01807" "2020-10-26 16:52:01" "" "" "SEQ" "DNA" "" "" "0000400527" "00399284" "1" "01164" "01164" "2022-01-18 17:38:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000402880" "00401637" "1" "02494" "02494" "2022-02-01 10:46:45" "" "" "SEQ-NG" "DNA" "" "WES" "0000425351" "00424041" "1" "01164" "01164" "2022-11-16 12:30:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000440179" "00438697" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000441915" "00440430" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454534" "00452930" "1" "03544" "03544" "2024-08-05 09:04:00" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000459538" "00457918" "1" "03544" "03544" "2024-11-21 11:42:26" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000461056" "00459431" "1" "03544" "03544" "2024-12-29 10:26:22" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{geneid}}" "0000019856" "MED13L" "0000019860" "MED13L" "0000019861" "MED13L" "0000019864" "HADHA" "0000019864" "MED13L" "0000050353" "MED13L" "0000050439" "MED13L" "0000050457" "MED13L" "0000050486" "MED13L" "0000050567" "MED13L" "0000050582" "MED13L" "0000102547" "MED13L" "0000111861" "MED13L" "0000111862" "MED13L" "0000164797" "MED13L" "0000184639" "MED13L" "0000184640" "MED13L" "0000297875" "MED13L" "0000303897" "MED13L" "0000315119" "MED13L" "0000315120" "MED13L" "0000315121" "MED13L" "0000315122" "MED13L" "0000315123" "MED13L" "0000400527" "MED13L" "0000425351" "MED13L" ## 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 = 227 "{{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}}" "0000040319" "0" "70" "12" "116428996" "116428996" "del" "0" "00778" "MED13L_000001" "g.116428996del" "" "{PMID:Cafiero 2015:25712080}, {DOI:Cafiero 2015:10.1038/ejhg.2015.19}" "" "3765delC" "" "De novo" "yes" "" "0" "" "" "g.115991191del" "" "likely pathogenic (dominant)" "" "0000040320" "0" "70" "12" "116460280" "116460280" "dup" "0" "00778" "MED13L_000002" "g.116460280dup" "" "{PMID:Cafiero 2015:25712080}, {DOI:Cafiero 2015:10.1038/ejhg.2015.19}" "" "607dupT" "" "De novo" "yes" "" "0" "" "" "g.116022475dup" "" "likely pathogenic (dominant)" "" "0000040321" "0" "70" "12" "116422096" "116422096" "subst" "0" "00778" "MED13L_000003" "g.116422096T>A" "" "{PMID:Cafiero 2015:25712080}, {DOI:Cafiero 2015:10.1038/ejhg.2015.19}" "" "" "" "De novo" "yes" "" "0" "" "" "g.115984291T>A" "" "likely pathogenic (dominant)" "" "0000040327" "0" "70" "12" "116435026" "116435026" "subst" "0" "00705" "MED13L_000004" "g.116435026T>C" "" "{PMID:Gilissen 2014:24896178}" "" "" "" "De novo" "?" "" "0" "" "" "g.115997221T>C" "" "likely pathogenic" "" "0000079333" "0" "90" "12" "116446528" "116446528" "subst" "0" "00006" "MED13L_000009" "g.116446528G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.116008723G>A" "" "pathogenic" "" "0000079419" "0" "90" "12" "116549299" "116549299" "subst" "0" "00006" "MED13L_000010" "g.116549299C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.116111494C>T" "" "pathogenic" "" "0000079437" "0" "90" "12" "116424921" "116424926" "delins" "0" "00006" "MED13L_000007" "g.116424921_116424926delTCCCCinsTCCC" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.115987116_115987121delinsTCCC" "" "pathogenic" "" "0000079466" "0" "90" "12" "116408461" "116408461" "subst" "0" "00006" "MED13L_000005" "g.116408461G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.115970656G>A" "" "pathogenic" "" "0000079547" "0" "90" "12" "116443746" "116443752" "delins" "0" "00006" "MED13L_000008" "g.116443746_116443752delCTGTGTinsCT" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.116005941_116005947delinsCT" "" "pathogenic" "" "0000079562" "0" "90" "12" "116413012" "116413012" "subst" "0" "00006" "MED13L_000006" "g.116413012C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.115975207C>T" "" "pathogenic" "" "0000165286" "0" "50" "12" "116399085" "116399085" "subst" "4.06233E-6" "01864" "MED13L_000011" "g.116399085T>C" "" "" "" "" "not from mother, no father\'s DNA" "Germline" "" "" "0" "" "" "g.115961280T>C" "" "VUS" "" "0000179019" "0" "90" "12" "116420191" "116420191" "subst" "0" "00729" "MED13L_000012" "g.116420191G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.115982386G>A" "" "pathogenic" "ACMG" "0000179020" "0" "90" "12" "116443744" "116443744" "dup" "0" "00729" "MED13L_000013" "g.116443744dup" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.116005939dup" "" "pathogenic" "ACMG" "0000254563" "0" "30" "12" "116446355" "116446355" "subst" "0.00428314" "01943" "MED13L_000035" "g.116446355A>G" "" "" "" "MED13L(NM_015335.4):c.1863T>C (p.I621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116008550A>G" "" "likely benign" "" "0000282453" "0" "50" "12" "116420376" "116420376" "subst" "0" "02325" "MED13L_000018" "g.116420376G>A" "" "" "" "MED13L(NM_015335.5):c.4988C>T (p.T1663M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115982571G>A" "" "VUS" "" "0000282454" "0" "10" "12" "116403920" "116403920" "subst" "0.0723861" "02325" "MED13L_000015" "g.116403920G>A" "" "" "" "MED13L(NM_015335.5):c.6354C>T (p.P2118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115966115G>A" "" "benign" "" "0000282455" "0" "30" "12" "116457069" "116457069" "subst" "0.000122167" "02325" "MED13L_000038" "g.116457069C>T" "" "" "" "MED13L(NM_015335.4):c.969G>A (p.(Met323Ile)), MED13L(NM_015335.5):c.969G>A (p.M323I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116019264C>T" "" "likely benign" "" "0000286231" "0" "90" "12" "116403933" "116403933" "subst" "0" "02326" "MED13L_000016" "g.116403933C>T" "" "" "" "MED13L(NM_015335.4):c.6341G>A (p.W2114*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115966128C>T" "" "pathogenic" "" "0000291696" "0" "10" "12" "116445450" "116445450" "subst" "0" "01943" "MED13L_000034" "g.116445450C>A" "" "" "" "MED13L(NM_015335.4):c.2013-10_2013-9delTGinsTT, MED13L(NM_015335.4):c.2013-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116007645C>A" "" "benign" "" "0000291697" "0" "90" "12" "116429060" "116429063" "del" "0" "01943" "MED13L_000028" "g.116429060_116429063del" "" "" "" "MED13L(NM_015335.4):c.3701_3704delCACA (p.T1234Nfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115991255_115991258del" "" "pathogenic" "" "0000291698" "0" "30" "12" "116421284" "116421284" "subst" "0.000505158" "01943" "MED13L_000024" "g.116421284G>A" "" "" "" "MED13L(NM_015335.4):c.4593C>T (p.T1531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115983479G>A" "" "likely benign" "" "0000291699" "0" "90" "12" "116421213" "116421213" "del" "0" "01943" "MED13L_000023" "g.116421213del" "" "" "" "MED13L(NM_015335.4):c.4664delC (p.A1555Vfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115983408del" "" "pathogenic" "" "0000323109" "0" "50" "12" "116399186" "116399186" "dup" "0" "01804" "MED13L_000014" "g.116399186dup" "" "" "" "MED13L(NM_015335.4):c.6518_6519insA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115961381dup" "" "VUS" "" "0000323112" "0" "30" "12" "116421018" "116421018" "subst" "2.03606E-5" "01804" "MED13L_000020" "g.116421018C>T" "" "" "" "MED13L(NM_015335.4):c.4859G>A (p.(Gly1620Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115983213C>T" "" "likely benign" "" "0000323113" "0" "30" "12" "116421180" "116421180" "subst" "0.000410673" "01804" "MED13L_000021" "g.116421180G>A" "" "" "" "MED13L(NM_015335.4):c.4697C>T (p.(Ser1566Leu), p.S1566L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115983375G>A" "" "likely benign" "" "0000323114" "0" "30" "12" "116421186" "116421186" "subst" "0.000394412" "01804" "MED13L_000022" "g.116421186G>A" "" "" "" "MED13L(NM_015335.4):c.4691C>T (p.(Pro1564Leu), p.P1564L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115983381G>A" "" "likely benign" "" "0000323115" "0" "50" "12" "116422048" "116422048" "subst" "4.47959E-5" "01804" "MED13L_000025" "g.116422048C>T" "" "" "" "MED13L(NM_015335.4):c.4468G>A (p.(Gly1490Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115984243C>T" "" "VUS" "" "0000323117" "0" "50" "12" "116424229" "116424229" "subst" "4.06888E-6" "01804" "MED13L_000027" "g.116424229G>C" "" "" "" "MED13L(NM_015335.4):c.4180C>G (p.(Leu1394Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115986424G>C" "" "VUS" "" "0000323118" "0" "50" "12" "116440806" "116440806" "subst" "0" "01804" "MED13L_000030" "g.116440806A>G" "" "" "" "MED13L(NM_015335.4):c.2569+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116003001A>G" "" "VUS" "" "0000323119" "0" "50" "12" "116445353" "116445353" "subst" "8.12367E-6" "01804" "MED13L_000031" "g.116445353G>C" "" "" "" "MED13L(NM_015335.4):c.2101C>G (p.(Leu701Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116007548G>C" "" "VUS" "" "0000323121" "0" "50" "12" "116450690" "116450690" "subst" "4.07017E-6" "01804" "MED13L_000036" "g.116450690T>G" "" "" "" "MED13L(NM_015335.4):c.1192A>C (p.(Thr398Pro)), MED13L(NM_015335.5):c.1192A>C (p.T398P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116012885T>G" "" "VUS" "" "0000323122" "0" "30" "12" "116452969" "116452969" "subst" "4.06342E-6" "01804" "MED13L_000037" "g.116452969T>C" "" "" "" "MED13L(NM_015335.4):c.1120A>G (p.(Asn374Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116015164T>C" "" "likely benign" "" "0000343113" "0" "90" "12" "116446528" "116446528" "subst" "0" "02327" "MED13L_000009" "g.116446528G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116008723G>A" "" "pathogenic" "" "0000344241" "0" "70" "12" "116429367" "116429367" "subst" "0" "02327" "MED13L_000044" "g.116429367C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115991562C>T" "" "likely pathogenic" "" "0000344567" "0" "70" "12" "116421325" "116421325" "subst" "0" "02327" "MED13L_000043" "g.116421325G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115983520G>A" "" "likely pathogenic" "" "0000344591" "0" "70" "12" "116421037" "116421037" "subst" "0" "02327" "MED13L_000041" "g.116421037G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115983232G>A" "" "likely pathogenic" "" "0000349927" "0" "90" "12" "116421295" "116421295" "dup" "0" "02327" "MED13L_000042" "g.116421295dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115983490dup" "" "pathogenic" "" "0000368408" "0" "70" "12" "116408525" "116408525" "subst" "0" "02464" "MED13L_000045" "g.116408525G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.115970720G>A" "" "likely pathogenic" "" "0000408762" "0" "90" "12" "116413012" "116413012" "subst" "0" "00006" "MED13L_000006" "g.116413012C>T" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "De novo" "" "" "0" "" "" "g.115975207C>T" "" "pathogenic (dominant)" "" "0000408763" "0" "90" "12" "116440853" "116440853" "subst" "0" "00006" "MED13L_000046" "g.116440853G>A" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "De novo" "" "" "0" "" "" "g.116003048G>A" "" "pathogenic (dominant)" "" "0000546720" "0" "30" "12" "116399155" "116399155" "subst" "0" "01943" "MED13L_000047" "g.116399155C>T" "" "" "" "MED13L(NM_015335.4):c.6549G>A (p.P2183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115961350C>T" "" "likely benign" "" "0000546721" "0" "30" "12" "116406910" "116406910" "subst" "0.0106154" "01804" "MED13L_000048" "g.116406910G>A" "" "" "" "MED13L(NM_015335.4):c.6068-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115969105G>A" "" "likely benign" "" "0000546722" "0" "70" "12" "116413012" "116413012" "subst" "0" "02327" "MED13L_000006" "g.116413012C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115975207C>T" "" "likely pathogenic" "" "0000546723" "0" "50" "12" "116418547" "116418547" "subst" "4.06802E-6" "01804" "MED13L_000049" "g.116418547A>C" "" "" "" "MED13L(NM_015335.4):c.5364+8T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115980742A>C" "" "VUS" "" "0000546725" "0" "70" "12" "116420425" "116420425" "subst" "0" "02327" "MED13L_000051" "g.116420425T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115982620T>C" "" "likely pathogenic" "" "0000546726" "0" "30" "12" "116421046" "116421046" "subst" "1.2209E-5" "01943" "MED13L_000052" "g.116421046C>T" "" "" "" "MED13L(NM_015335.4):c.4831G>A (p.V1611I), MED13L(NM_015335.5):c.4831G>A (p.(Val1611Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115983241C>T" "" "likely benign" "" "0000546727" "0" "10" "12" "116421133" "116421133" "subst" "0.00215044" "01943" "MED13L_000053" "g.116421133A>T" "" "" "" "MED13L(NM_015335.4):c.4744T>A (p.S1582T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115983328A>T" "" "benign" "" "0000546728" "0" "30" "12" "116422057" "116422057" "subst" "0.000166941" "02327" "MED13L_000054" "g.116422057G>T" "" "" "" "MED13L(NM_015335.4):c.4459C>A (p.P1487T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115984252G>T" "" "likely benign" "" "0000546729" "0" "90" "12" "116424253" "116424253" "del" "0" "01943" "MED13L_000055" "g.116424253del" "" "" "" "MED13L(NM_015335.4):c.4156delC (p.L1386Wfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115986448del" "" "pathogenic" "" "0000546731" "0" "30" "12" "116429001" "116429001" "subst" "0.00106868" "02327" "MED13L_000056" "g.116429001G>A" "" "" "" "MED13L(NM_015335.4):c.3758C>T (p.T1253I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115991196G>A" "" "likely benign" "" "0000546732" "0" "50" "12" "116429060" "116429060" "subst" "0" "02327" "MED13L_000057" "g.116429060G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115991255G>T" "" "VUS" "" "0000546733" "0" "30" "12" "116429247" "116429247" "subst" "0.00277558" "01804" "MED13L_000058" "g.116429247T>C" "" "" "" "MED13L(NM_015335.4):c.3512A>G (p.K1171R), MED13L(NM_015335.5):c.3512A>G (p.(Lys1171Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115991442T>C" "" "likely benign" "" "0000546734" "0" "50" "12" "116429253" "116429253" "subst" "0" "01804" "MED13L_000059" "g.116429253T>C" "" "" "" "MED13L(NM_015335.4):c.3506A>G (p.(Asn1169Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115991448T>C" "" "VUS" "" "0000546735" "0" "90" "12" "116429285" "116429285" "subst" "0" "01943" "MED13L_000060" "g.116429285G>C" "" "" "" "MED13L(NM_015335.4):c.3474C>G (p.Y1158*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115991480G>C" "" "pathogenic" "" "0000546736" "0" "30" "12" "116429486" "116429486" "subst" "2.44103E-5" "02327" "MED13L_000061" "g.116429486G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115991681G>A" "" "likely benign" "" "0000546737" "0" "30" "12" "116429528" "116429528" "subst" "1.2247E-5" "01943" "MED13L_000062" "g.116429528G>A" "" "" "" "MED13L(NM_015335.4):c.3231C>T (p.T1077=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115991723G>A" "" "likely benign" "" "0000546738" "0" "30" "12" "116434406" "116434406" "subst" "6.09865E-5" "01943" "MED13L_000063" "g.116434406C>T" "" "" "" "MED13L(NM_015335.4):c.2871G>A (p.P957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115996601C>T" "" "likely benign" "" "0000546743" "0" "30" "12" "116444173" "116444173" "subst" "0" "01804" "MED13L_000068" "g.116444173T>C" "" "" "" "MED13L(NM_015335.4):c.2282A>G (p.(His761Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116006368T>C" "" "likely benign" "" "0000546745" "0" "30" "12" "116445398" "116445398" "subst" "0.00172714" "01943" "MED13L_000070" "g.116445398T>G" "" "" "" "MED13L(NM_015335.4):c.2056A>C (p.K686Q, p.(Lys686Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007593T>G" "" "likely benign" "" "0000546746" "0" "30" "12" "116445398" "116445398" "subst" "0.00172714" "01804" "MED13L_000070" "g.116445398T>G" "" "" "" "MED13L(NM_015335.4):c.2056A>C (p.K686Q, p.(Lys686Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007593T>G" "" "likely benign" "" "0000546747" "0" "30" "12" "116445405" "116445405" "subst" "2.03366E-5" "01804" "MED13L_000071" "g.116445405C>A" "" "" "" "MED13L(NM_015335.4):c.2049G>T (p.(Trp683Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007600C>A" "" "likely benign" "" "0000546748" "0" "30" "12" "116445428" "116445428" "subst" "4.07687E-6" "02327" "MED13L_000072" "g.116445428G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007623G>A" "" "likely benign" "" "0000546750" "0" "30" "12" "116445435" "116445435" "subst" "0" "01804" "MED13L_000074" "g.116445435T>A" "" "" "" "MED13L(NM_015335.4):c.2019A>T (p.(Leu673Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007630T>A" "" "likely benign" "" "0000546752" "0" "30" "12" "116445442" "116445442" "subst" "0" "01804" "MED13L_000076" "g.116445442C>A" "" "" "" "MED13L(NM_015335.4):c.2013-1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007637C>A" "" "likely benign" "" "0000546753" "0" "30" "12" "116445443" "116445443" "del" "0" "01804" "MED13L_000077" "g.116445443del" "" "" "" "MED13L(NM_015335.4):c.2013-2delA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007638del" "" "likely benign" "" "0000546755" "0" "30" "12" "116445448" "116445448" "subst" "0" "02327" "MED13L_000079" "g.116445448G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007643G>C" "" "likely benign" "" "0000546756" "0" "30" "12" "116445448" "116445450" "del" "0" "01804" "MED13L_000080" "g.116445448_116445450del" "" "" "" "MED13L(NM_015335.4):c.2013-9_2013-7del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007643_116007645del" "" "likely benign" "" "0000546758" "0" "10" "12" "116445462" "116445470" "dup" "0" "02326" "MED13L_000082" "g.116445462_116445470dup" "" "" "" "MED13L(NM_015335.4):c.2013-18_2013-10dupTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007657_116007665dup" "" "benign" "" "0000546759" "0" "10" "12" "116445470" "116445470" "del" "0" "01943" "MED13L_000083" "g.116445470del" "" "" "" "MED13L(NM_015335.4):c.2013-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007665del" "" "benign" "" "0000546760" "0" "30" "12" "116445470" "116445470" "dup" "0" "01943" "MED13L_000084" "g.116445470dup" "" "" "" "MED13L(NM_015335.4):c.2013-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007665dup" "" "likely benign" "" "0000546761" "0" "30" "12" "116446195" "116446196" "del" "0" "02327" "MED13L_000085" "g.116446195_116446196del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116008390_116008391del" "" "likely benign" "" "0000546763" "0" "30" "12" "116446341" "116446341" "subst" "0.000484646" "02327" "MED13L_000087" "g.116446341G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116008536G>A" "" "likely benign" "" "0000546764" "0" "30" "12" "116446564" "116446564" "subst" "4.88158E-5" "01804" "MED13L_000088" "g.116446564T>C" "" "" "" "MED13L(NM_015335.4):c.1654A>G (p.I552V, p.(Ile552Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116008759T>C" "" "likely benign" "" "0000546765" "0" "30" "12" "116446629" "116446629" "subst" "4.07368E-6" "01804" "MED13L_000089" "g.116446629G>A" "" "" "" "MED13L(NM_015335.4):c.1589C>T (p.(Ala530Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116008824G>A" "" "likely benign" "" "0000546766" "0" "30" "12" "116446675" "116446675" "subst" "8.13769E-6" "01804" "MED13L_000090" "g.116446675A>C" "" "" "" "MED13L(NM_015335.4):c.1543T>G (p.(Ser515Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116008870A>C" "" "likely benign" "" "0000546767" "0" "30" "12" "116446675" "116446675" "subst" "8.13769E-6" "01943" "MED13L_000091" "g.116446675A>T" "" "" "" "MED13L(NM_015335.4):c.1543T>A (p.S515T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116008870A>T" "" "likely benign" "" "0000546768" "0" "30" "12" "116446935" "116446935" "subst" "0.00287328" "01943" "MED13L_000092" "g.116446935T>C" "" "" "" "MED13L(NM_015335.4):c.1283A>G (p.H428R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116009130T>C" "" "likely benign" "" "0000546770" "0" "10" "12" "116446935" "116446935" "subst" "0.00287328" "02327" "MED13L_000092" "g.116446935T>C" "" "" "" "MED13L(NM_015335.4):c.1283A>G (p.H428R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116009130T>C" "" "benign" "" "0000546771" "0" "50" "12" "116450690" "116450690" "subst" "4.07017E-6" "02325" "MED13L_000036" "g.116450690T>G" "" "" "" "MED13L(NM_015335.4):c.1192A>C (p.(Thr398Pro)), MED13L(NM_015335.5):c.1192A>C (p.T398P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116012885T>G" "" "VUS" "" "0000546772" "0" "30" "12" "116457030" "116457030" "subst" "0.000204138" "01943" "MED13L_000093" "g.116457030T>G" "" "" "" "MED13L(NM_015335.4):c.1008A>C (p.L336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116019225T>G" "" "likely benign" "" "0000546773" "0" "30" "12" "116457045" "116457045" "subst" "6.11456E-5" "02327" "MED13L_000094" "g.116457045T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116019240T>C" "" "likely benign" "" "0000546774" "0" "30" "12" "116457069" "116457069" "subst" "0.000122167" "01804" "MED13L_000038" "g.116457069C>T" "" "" "" "MED13L(NM_015335.4):c.969G>A (p.(Met323Ile)), MED13L(NM_015335.5):c.969G>A (p.M323I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116019264C>T" "" "likely benign" "" "0000546775" "0" "50" "12" "116457161" "116457161" "subst" "0" "01804" "MED13L_000095" "g.116457161G>T" "" "" "" "MED13L(NM_015335.4):c.877C>A (p.(Pro293Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116019356G>T" "" "VUS" "" "0000546776" "0" "10" "12" "116460307" "116460307" "subst" "0.00783473" "02327" "MED13L_000096" "g.116460307A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116022502A>G" "" "benign" "" "0000546778" "0" "30" "12" "116714901" "116714901" "subst" "0.000324562" "01943" "MED13L_000098" "g.116714901C>T" "" "" "" "MED13L(NM_015335.4):c.36G>A (p.A12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116277096C>T" "" "likely benign" "" "0000613882" "0" "30" "12" "116399155" "116399155" "subst" "0" "02327" "MED13L_000047" "g.116399155C>T" "" "" "" "MED13L(NM_015335.4):c.6549G>A (p.P2183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115961350C>T" "" "likely benign" "" "0000613884" "0" "30" "12" "116421180" "116421180" "subst" "0.000410673" "02327" "MED13L_000021" "g.116421180G>A" "" "" "" "MED13L(NM_015335.4):c.4697C>T (p.(Ser1566Leu), p.S1566L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115983375G>A" "" "likely benign" "" "0000613885" "0" "30" "12" "116422058" "116422058" "subst" "4.88635E-5" "02326" "MED13L_000101" "g.116422058C>T" "" "" "" "MED13L(NM_015335.4):c.4458G>A (p.Q1486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115984253C>T" "" "likely benign" "" "0000613886" "0" "30" "12" "116424290" "116424290" "subst" "3.26821E-5" "02327" "MED13L_000102" "g.116424290C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115986485C>T" "" "likely benign" "" "0000613887" "0" "30" "12" "116429116" "116429116" "subst" "3.27019E-5" "02327" "MED13L_000103" "g.116429116T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115991311T>A" "" "likely benign" "" "0000613888" "0" "70" "12" "116429277" "116429277" "subst" "0" "02327" "MED13L_000104" "g.116429277G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115991472G>A" "" "likely pathogenic" "" "0000613889" "0" "30" "12" "116429501" "116429501" "subst" "0" "02327" "MED13L_000105" "g.116429501G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115991696G>A" "" "likely benign" "" "0000613890" "0" "30" "12" "116429545" "116429545" "subst" "0.000236644" "02326" "MED13L_000106" "g.116429545C>T" "" "" "" "MED13L(NM_015335.4):c.3214G>A (p.(Val1072Ile), p.V1072I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115991740C>T" "" "likely benign" "" "0000613891" "0" "70" "12" "116434991" "116434991" "subst" "0" "02325" "MED13L_000107" "g.116434991C>T" "" "" "" "MED13L(NM_015335.5):c.2614G>A (p.E872K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115997186C>T" "" "likely pathogenic" "" "0000613892" "0" "90" "12" "116435015" "116435015" "subst" "0" "02327" "MED13L_000067" "g.116435015T>A" "" "" "" "MED13L(NM_015335.5):c.2590A>T (p.M864L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115997210T>A" "" "pathogenic" "" "0000613893" "0" "50" "12" "116444155" "116444155" "subst" "0" "01943" "MED13L_000108" "g.116444155T>C" "" "" "" "MED13L(NM_015335.4):c.2300A>G (p.D767G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116006350T>C" "" "VUS" "" "0000613894" "0" "30" "12" "116445243" "116445243" "subst" "3.65756E-5" "02327" "MED13L_000109" "g.116445243C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007438C>T" "" "likely benign" "" "0000613895" "0" "10" "12" "116445469" "116445470" "dup" "0" "01943" "MED13L_000111" "g.116445469_116445470dup" "" "" "" "MED13L(NM_015335.4):c.2013-11_2013-10dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007664_116007665dup" "" "benign" "" "0000613896" "0" "30" "12" "116446421" "116446421" "subst" "6.10535E-5" "02327" "MED13L_000112" "g.116446421A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116008616A>G" "" "likely benign" "" "0000613897" "0" "30" "12" "116446835" "116446835" "subst" "0.000170716" "02327" "MED13L_000113" "g.116446835A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116009030A>C" "" "likely benign" "" "0000613898" "0" "30" "12" "116457221" "116457221" "subst" "4.08043E-6" "02327" "MED13L_000114" "g.116457221T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116019416T>C" "" "likely benign" "" "0000613899" "0" "50" "12" "116457747" "116457747" "subst" "0.000126191" "02325" "MED13L_000115" "g.116457747G>A" "" "" "" "MED13L(NM_015335.5):c.656C>T (p.T219M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116019942G>A" "" "VUS" "" "0000613900" "0" "30" "12" "116534503" "116534503" "subst" "2.03087E-5" "01943" "MED13L_000116" "g.116534503G>A" "" "" "" "MED13L(NM_015335.4):c.450C>T (p.Y150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116096698G>A" "" "likely benign" "" "0000613901" "0" "50" "12" "116675398" "116675398" "subst" "8.12183E-6" "02325" "MED13L_000117" "g.116675398C>T" "" "" "" "MED13L(NM_015335.5):c.185G>A (p.R62H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116237593C>T" "" "VUS" "" "0000622790" "0" "50" "12" "116420407" "116420407" "subst" "0" "02325" "MED13L_000100" "g.116420407C>T" "" "" "" "MED13L(NM_015335.5):c.4957G>A (p.V1653I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115982602C>T" "" "VUS" "" "0000622791" "0" "10" "12" "116445468" "116445470" "dup" "0" "01943" "MED13L_000110" "g.116445468_116445470dup" "" "" "" "MED13L(NM_015335.4):c.2013-12_2013-10dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116007663_116007665dup" "" "benign" "" "0000631930" "0" "90" "12" "116457776" "116457776" "dup" "0" "01807" "MED13L_000118" "g.116457776dup" "" "" "" "627dupA" "" "Unknown" "" "" "0" "" "" "g.116019971dup" "" "pathogenic" "" "0000631931" "0" "90" "12" "116675501" "116675501" "dup" "0" "01807" "MED13L_000119" "g.116675501dup" "" "" "" "82dupA" "" "Unknown" "" "" "0" "" "" "g.116237696dup" "" "pathogenic" "" "0000653451" "0" "90" "12" "116429312" "116429312" "del" "0" "01164" "MED13L_000120" "g.116429312del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.115991507del" "" "pathogenic" "ACMG" "0000660575" "0" "90" "12" "116406850" "116406857" "del" "0" "00006" "MED13L_000121" "g.116406850_116406857del" "" "{PMID:Redin 2014:25167861}" "" "" "" "De novo" "" "" "0" "" "" "g.115969045_115969052del" "" "pathogenic (dominant)" "" "0000667299" "0" "70" "12" "116446513" "116446514" "del" "0" "00006" "MED13L_000122" "g.116446513_116446514del" "" "{PMID:Hamdan 2015:25356899}" "" "" "" "De novo" "" "" "0" "" "" "g.116008708_116008709del" "" "pathogenic (dominant)" "" "0000674012" "0" "90" "12" "116446366" "116446366" "dup" "0" "01807" "MED13L_000123" "g.116446366dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000679407" "0" "30" "12" "116421009" "116421009" "subst" "2.44284E-5" "01943" "MED13L_000124" "g.116421009G>A" "" "" "" "MED13L(NM_015335.4):c.4868C>T (p.A1623V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679408" "0" "90" "12" "116421022" "116421022" "del" "0" "02327" "MED13L_000125" "g.116421022del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679409" "0" "90" "12" "116428918" "116428918" "subst" "0" "02325" "MED13L_000126" "g.116428918G>A" "" "" "" "MED13L(NM_015335.5):c.3841C>T (p.Q1281*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679410" "0" "30" "12" "116440887" "116440887" "subst" "0" "01943" "MED13L_000127" "g.116440887G>C" "" "" "" "MED13L(NM_015335.4):c.2490C>G (p.R830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679411" "0" "30" "12" "116452980" "116452980" "subst" "0" "02326" "MED13L_000128" "g.116452980G>T" "" "" "" "MED13L(NM_015335.4):c.1109C>A (p.P370Q), MED13L(NM_015335.5):c.1109C>A (p.P370Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697194" "0" "90" "12" "116460407" "116460407" "subst" "0" "00006" "MED13L_000129" "g.116460407C>A" "" "{PMID:Van Haelst 2015:24781760}, {DOI:Van Haelst 2015:10.1038/ejhg.2014.69}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000697196" "0" "90" "12" "116419988" "116460600" "del" "0" "00006" "MED13L_000130" "g.(?_116419988)_(116460600_?)del" "" "{PMID:Van Haelst 2015:24781760}, {DOI:Van Haelst 2015:10.1038/ejhg.2014.69}" "" "del ex6-20" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000697197" "0" "90" "12" "116674265" "116691954" "del" "0" "00006" "MED13L_000131" "g.(116691122_116691954)_(116671374_116674265)del" "" "{PMID:Asadollahi 2013:23403903}, {DOI:Asadollahi 2013:10.1038/ejhg.2013.17}" "" "hg18 g.(115155757_115158648)_(115175505_115176337)del" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000697198" "0" "90" "12" "116476615" "116591442" "del" "0" "00006" "MED13L_000132" "g.(116476574_116476615)_(116591442_116632333)del" "" "{PMID:Asadollahi 2013:23403903}, {DOI:Asadollahi 2013:10.1038/ejhg.2013.17}" "" "del ex3-4" "assumed typing error in variant (114906957 > 114960957)" "De novo" "" "" "0" "" "" "hg18 g.(114906957_114960998)_(115075825_115116716)del" "" "pathogenic (dominant)" "" "0000697199" "0" "90" "12" "116024060" "117043341" "dup" "0" "00006" "MED13L_000133" "g.(116022988_116024060)_(117043341_117044193)dup" "" "{PMID:Asadollahi 2013:23403903}, {DOI:Asadollahi 2013:10.1038/ejhg.2013.17}" "" "hg18 g.(114507371_114508443)_(115527724_115528576)tri" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000698823" "0" "90" "12" "116401227" "116401227" "subst" "0" "01807" "MED13L_000099" "g.116401227G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000723854" "0" "90" "12" "116401227" "116401227" "subst" "0" "02329" "MED13L_000099" "g.116401227G>A" "" "" "" "MED13L(NM_015335.5):c.6485C>T (p.T2162M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723855" "0" "30" "12" "116410044" "116410044" "subst" "0.000265323" "01943" "MED13L_000134" "g.116410044G>A" "" "" "" "MED13L(NM_015335.4):c.5732-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723856" "0" "30" "12" "116413406" "116413406" "subst" "0.000158626" "02326" "MED13L_000135" "g.116413406G>A" "" "" "" "MED13L(NM_015335.4):c.5502C>T (p.H1834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723857" "0" "30" "12" "116421180" "116421180" "subst" "0.000410673" "02326" "MED13L_000021" "g.116421180G>A" "" "" "" "MED13L(NM_015335.4):c.4697C>T (p.(Ser1566Leu), p.S1566L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723858" "0" "30" "12" "116421186" "116421186" "subst" "0.000394412" "02326" "MED13L_000022" "g.116421186G>A" "" "" "" "MED13L(NM_015335.4):c.4691C>T (p.(Pro1564Leu), p.P1564L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723859" "0" "50" "12" "116424219" "116424219" "subst" "0" "02329" "MED13L_000136" "g.116424219G>A" "" "" "" "MED13L(NM_015335.5):c.4190C>T (p.S1397L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723860" "0" "30" "12" "116429001" "116429001" "subst" "0.00106868" "01943" "MED13L_000056" "g.116429001G>A" "" "" "" "MED13L(NM_015335.4):c.3758C>T (p.T1253I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723861" "0" "50" "12" "116429572" "116429572" "subst" "0" "02329" "MED13L_000029" "g.116429572C>A" "" "" "" "MED13L(NM_015335.5):c.3187G>T (p.G1063W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723862" "0" "70" "12" "116434999" "116434999" "subst" "0" "02329" "MED13L_000066" "g.116434999G>A" "" "" "" "MED13L(NM_015335.5):c.2606C>T (p.P869L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723863" "0" "50" "12" "116435015" "116435015" "subst" "0" "02329" "MED13L_000067" "g.116435015T>A" "" "" "" "MED13L(NM_015335.5):c.2590A>T (p.M864L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723864" "0" "90" "12" "116445383" "116445383" "subst" "0" "02329" "MED13L_000069" "g.116445383G>A" "" "" "" "MED13L(NM_015335.5):c.2071C>T (p.Q691*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723865" "0" "50" "12" "116457191" "116457191" "subst" "0" "02329" "MED13L_000039" "g.116457191C>T" "" "" "" "MED13L(NM_015335.5):c.847G>A (p.A283T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723866" "0" "30" "12" "116457753" "116457753" "subst" "1.62827E-5" "01943" "MED13L_000137" "g.116457753T>G" "" "" "" "MED13L(NM_015335.4):c.650A>C (p.N217T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805546" "0" "70" "12" "116408461" "116408461" "subst" "0" "02327" "MED13L_000005" "g.116408461G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805547" "0" "30" "12" "116422057" "116422057" "subst" "0.000166941" "01943" "MED13L_000054" "g.116422057G>T" "" "" "" "MED13L(NM_015335.4):c.4459C>A (p.P1487T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805548" "0" "30" "12" "116429247" "116429247" "subst" "0.00277558" "01943" "MED13L_000058" "g.116429247T>C" "" "" "" "MED13L(NM_015335.4):c.3512A>G (p.K1171R), MED13L(NM_015335.5):c.3512A>G (p.(Lys1171Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805549" "0" "30" "12" "116429552" "116429552" "subst" "3.67236E-5" "01943" "MED13L_000138" "g.116429552T>C" "" "" "" "MED13L(NM_015335.4):c.3207A>G (p.Q1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805550" "0" "10" "12" "116445450" "116445450" "subst" "0" "02326" "MED13L_000034" "g.116445450C>A" "" "" "" "MED13L(NM_015335.4):c.2013-10_2013-9delTGinsTT, MED13L(NM_015335.4):c.2013-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805551" "0" "50" "12" "116446671" "116446671" "subst" "0" "01943" "MED13L_000139" "g.116446671G>T" "" "" "" "MED13L(NM_015335.4):c.1547C>A (p.S516Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805552" "0" "50" "12" "116450599" "116450599" "subst" "0" "01943" "MED13L_000140" "g.116450599T>C" "" "" "" "MED13L(NM_015335.4):c.1280+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805553" "0" "50" "12" "116457705" "116457705" "subst" "4.06798E-6" "02325" "MED13L_000141" "g.116457705C>T" "" "" "" "MED13L(NM_015335.5):c.698G>A (p.R233H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000833440" "0" "70" "12" "116429136" "116429139" "del" "0" "01164" "MED13L_000142" "g.116429136_116429139del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.115991331_115991334del" "" "likely pathogenic (dominant)" "ACMG" "0000837159" "0" "70" "12" "116401224" "116401224" "subst" "0" "02494" "MED13L_000143" "g.116401224G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000841842" "0" "90" "12" "116549299" "116549299" "subst" "0" "03779" "MED13L_000010" "g.116549299C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000853282" "0" "30" "12" "116422049" "116422049" "subst" "0.000823119" "01943" "MED13L_000147" "g.116422049G>A" "" "" "" "MED13L(NM_015335.4):c.4467C>T (p.S1489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853283" "0" "30" "12" "116446564" "116446564" "subst" "4.88158E-5" "01943" "MED13L_000088" "g.116446564T>C" "" "" "" "MED13L(NM_015335.4):c.1654A>G (p.I552V, p.(Ile552Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862819" "0" "50" "12" "116401255" "116401255" "subst" "8.12876E-6" "02325" "MED13L_000144" "g.116401255C>A" "" "" "" "MED13L(NM_015335.4):c.6457G>T (p.(Val2153Phe)), MED13L(NM_015335.5):c.6457G>T (p.V2153F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862820" "0" "90" "12" "116413477" "116413478" "del" "0" "02327" "MED13L_000145" "g.116413477_116413478del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862821" "0" "90" "12" "116418641" "116418641" "subst" "0" "01804" "MED13L_000146" "g.116418641G>A" "" "" "" "MED13L(NM_015335.4):c.5278C>T (p.(Arg1760*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890293" "0" "90" "12" "116413104" "116413108" "del" "0" "02329" "MED13L_000148" "g.116413104_116413108del" "" "" "" "MED13L(NM_015335.5):c.5603_5607delAAGTA (p.K1868Ifs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890294" "0" "90" "12" "116429572" "116429572" "dup" "0" "02329" "MED13L_000149" "g.116429572dup" "" "" "" "MED13L(NM_015335.5):c.3191dupG (p.T1065Hfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890295" "0" "50" "12" "116434970" "116434970" "subst" "0" "02329" "MED13L_000150" "g.116434970G>A" "" "" "" "MED13L(NM_015335.5):c.2635C>T (p.P879S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890296" "0" "10" "12" "116445470" "116445470" "dup" "0" "02326" "MED13L_000084" "g.116445470dup" "" "" "" "MED13L(NM_015335.4):c.2013-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890297" "0" "50" "12" "116446379" "116446379" "subst" "5.29506E-5" "01943" "MED13L_000151" "g.116446379G>A" "" "" "" "MED13L(NM_015335.4):c.1839C>T (p.S613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890298" "0" "30" "12" "116446828" "116446830" "del" "0" "02325" "MED13L_000152" "g.116446828_116446830del" "" "" "" "MED13L(NM_015335.5):c.1393_1395delTCT (p.S465del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890299" "0" "50" "12" "116675333" "116675333" "subst" "0" "02325" "MED13L_000153" "g.116675333A>G" "" "" "" "MED13L(NM_015335.5):c.250T>C (p.W84R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000902069" "0" "90" "12" "116412974" "116412974" "subst" "0" "01164" "MED13L_000154" "g.116412974A>G" "" "" "" "" "ACMG: PVS1, PS2_SUP, PM2_SUP; confirmed de novo in trio exome" "De novo" "-" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000913762" "0" "50" "12" "116401311" "116401311" "subst" "0" "02327" "MED13L_000155" "g.116401311T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913763" "0" "70" "12" "116410042" "116410042" "subst" "0" "02327" "MED13L_000156" "g.116410042C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913764" "0" "70" "12" "116412974" "116412974" "subst" "0" "02327" "MED13L_000154" "g.116412974A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913765" "0" "30" "12" "116445446" "116445446" "subst" "0" "02325" "MED13L_000157" "g.116445446A>G" "" "" "" "MED13L(NM_015335.5):c.2013-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913766" "0" "50" "12" "116457678" "116457678" "subst" "0" "02325" "MED13L_000158" "g.116457678A>C" "" "" "" "MED13L(NM_015335.5):c.725T>G (p.F242C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925545" "0" "50" "12" "116404030" "116404030" "subst" "0" "02325" "MED13L_000159" "g.116404030G>A" "" "" "" "MED13L(NM_015335.5):c.6244C>T (p.L2082F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930021" "0" "30" "12" "116418611" "116418611" "subst" "2.84796E-5" "02325" "MED13L_000160" "g.116418611A>G" "" "" "" "MED13L(NM_015335.5):c.5308T>C (p.S1770P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930022" "0" "50" "12" "116420321" "116420321" "subst" "0" "02325" "MED13L_000161" "g.116420321C>A" "" "" "" "MED13L(NM_015335.5):c.5043G>T (p.M1681I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930023" "0" "30" "12" "116428971" "116428971" "subst" "4.46951E-5" "02325" "MED13L_000162" "g.116428971C>T" "" "" "" "MED13L(NM_015335.5):c.3788G>A (p.R1263Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936474" "0" "70" "12" "116446500" "116446500" "subst" "0" "00006" "MED13L_000163" "g.116446500G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_015335:c.C1718T (P573L)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000939857" "0" "70" "12" "116445389" "116445389" "subst" "0" "00006" "MED13L_000164" "g.116445389G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.116007584G>A" "" "likely pathogenic" "" "0000949851" "0" "30" "12" "116446294" "116446294" "subst" "3.6636E-5" "02325" "MED13L_000165" "g.116446294C>G" "" "" "" "MED13L(NM_015335.4):c.1924G>C (p.(Asp642His)), MED13L(NM_015335.5):c.1924G>C (p.D642H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966733" "0" "30" "12" "116446715" "116446715" "subst" "4.47278E-5" "02326" "MED13L_000166" "g.116446715T>C" "" "" "" "MED13L(NM_015335.4):c.1503A>G (p.Q501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966734" "0" "10" "12" "116549330" "116549330" "del" "0" "02329" "MED13L_000167" "g.116549330del" "" "" "" "MED13L(NM_015335.5):c.311-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966735" "0" "30" "12" "116675520" "116675521" "dup" "0" "02326" "MED13L_000168" "g.116675520_116675521dup" "" "" "" "MED13L(NM_015335.4):c.73-10_73-9dupCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980046" "0" "30" "12" "116420913" "116420913" "subst" "0" "01804" "MED13L_000169" "g.116420913A>G" "" "" "" "MED13L(NM_015335.5):c.4955+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980047" "0" "30" "12" "116421103" "116421103" "subst" "0" "01804" "MED13L_000170" "g.116421103A>G" "" "" "" "MED13L(NM_015335.5):c.4774T>C (p.(Ser1592Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980048" "0" "50" "12" "116424238" "116424238" "subst" "0" "01804" "MED13L_000171" "g.116424238T>C" "" "" "" "MED13L(NM_015335.5):c.4171A>G (p.(Lys1391Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980049" "0" "30" "12" "116429646" "116429646" "subst" "0" "01804" "MED13L_000172" "g.116429646A>T" "" "" "" "MED13L(NM_015335.5):c.3113T>A (p.(Leu1038Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980050" "0" "50" "12" "116444141" "116444141" "subst" "0" "01804" "MED13L_000173" "g.116444141T>C" "" "" "" "MED13L(NM_015335.5):c.2314A>G (p.(Met772Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980051" "0" "50" "12" "116457044" "116457044" "subst" "0" "01804" "MED13L_000174" "g.116457044C>T" "" "" "" "MED13L(NM_015335.5):c.994G>A (p.(Glu332Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980052" "0" "30" "12" "116457090" "116457090" "subst" "0.0104816" "01804" "MED13L_000175" "g.116457090C>T" "" "" "" "MED13L(NM_015335.5):c.948G>A (p.(Lys316=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980053" "0" "50" "12" "116534531" "116534531" "subst" "0" "01804" "MED13L_000176" "g.116534531C>T" "" "" "" "MED13L(NM_015335.5):c.422G>A (p.(Arg141Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980054" "0" "50" "12" "116714978" "116714978" "subst" "0" "01804" "MED13L_000177" "g.116714978G>A" "" "" "" "MED13L(NM_015335.5):c.-42C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989382" "0" "70" "12" "116457645" "116457645" "del" "0" "03544" "MED13L_000178" "g.116457645del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.116019840del" "{CV:3362904}" "likely pathogenic" "ACMG" "0000999689" "0" "30" "12" "116401255" "116401255" "subst" "8.12876E-6" "01804" "MED13L_000144" "g.116401255C>A" "" "" "" "MED13L(NM_015335.4):c.6457G>T (p.(Val2153Phe)), MED13L(NM_015335.5):c.6457G>T (p.V2153F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999690" "0" "70" "12" "116404037" "116404037" "dup" "0" "01804" "MED13L_000179" "g.116404037dup" "" "" "" "MED13L(NM_015335.4):c.6237dupG (p.(Arg2080fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000999691" "0" "30" "12" "116408564" "116408564" "subst" "4.47948E-5" "01804" "MED13L_000180" "g.116408564T>C" "" "" "" "MED13L(NM_015335.4):c.5902A>G (p.(Met1968Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999692" "0" "90" "12" "116413008" "116413008" "del" "0" "02325" "MED13L_000181" "g.116413008del" "" "" "" "MED13L(NM_015335.5):c.5699delG (p.R1900Hfs*61)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000999693" "0" "30" "12" "116420945" "116420945" "subst" "1.62791E-5" "01804" "MED13L_000182" "g.116420945C>G" "" "" "" "MED13L(NM_015335.4):c.4932G>C (p.(Gln1644His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999694" "0" "30" "12" "116420956" "116420956" "subst" "0" "01804" "MED13L_000183" "g.116420956T>C" "" "" "" "MED13L(NM_015335.4):c.4921A>G (p.(Ser1641Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999695" "0" "90" "12" "116421085" "116421085" "subst" "0" "02327" "MED13L_000184" "g.116421085G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000999696" "0" "50" "12" "116421091" "116421091" "subst" "0" "01804" "MED13L_000185" "g.116421091T>C" "" "" "" "MED13L(NM_015335.4):c.4786A>G (p.(Ile1596Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999697" "0" "50" "12" "116421352" "116421352" "subst" "0" "01804" "MED13L_000186" "g.116421352G>T" "" "" "" "MED13L(NM_015335.4):c.4532-7C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999698" "0" "30" "12" "116428958" "116428958" "subst" "8.12651E-6" "01804" "MED13L_000187" "g.116428958A>T" "" "" "" "MED13L(NM_015335.4):c.3801T>A (p.(Asp1267Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999699" "0" "30" "12" "116429008" "116429008" "subst" "3.25105E-5" "01804" "MED13L_000188" "g.116429008G>A" "" "" "" "MED13L(NM_015335.4):c.3751C>T (p.(Arg1251Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999700" "0" "50" "12" "116429160" "116429160" "subst" "1.63732E-5" "01804" "MED13L_000189" "g.116429160C>T" "" "" "" "MED13L(NM_015335.4):c.3599G>A (p.(Arg1200His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999701" "0" "30" "12" "116429545" "116429545" "subst" "0.000236644" "01804" "MED13L_000106" "g.116429545C>T" "" "" "" "MED13L(NM_015335.4):c.3214G>A (p.(Val1072Ile), p.V1072I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999702" "0" "30" "12" "116429692" "116429692" "subst" "4.22187E-6" "01804" "MED13L_000190" "g.116429692T>C" "" "" "" "MED13L(NM_015335.4):c.3067A>G (p.(Thr1023Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999703" "0" "30" "12" "116434898" "116434898" "subst" "0" "01804" "MED13L_000191" "g.116434898C>T" "" "" "" "MED13L(NM_015335.4):c.2707G>A (p.(Val903Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999704" "0" "30" "12" "116444186" "116444186" "subst" "4.06683E-6" "01804" "MED13L_000192" "g.116444186T>C" "" "" "" "MED13L(NM_015335.4):c.2269A>G (p.(Thr757Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999705" "0" "30" "12" "116446294" "116446294" "subst" "3.6636E-5" "01804" "MED13L_000165" "g.116446294C>G" "" "" "" "MED13L(NM_015335.4):c.1924G>C (p.(Asp642His)), MED13L(NM_015335.5):c.1924G>C (p.D642H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999706" "0" "30" "12" "116446321" "116446321" "subst" "0" "01804" "MED13L_000193" "g.116446321A>C" "" "" "" "MED13L(NM_015335.4):c.1897T>G (p.(Trp633Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999707" "0" "50" "12" "116446488" "116446488" "subst" "0" "01804" "MED13L_000194" "g.116446488G>C" "" "" "" "MED13L(NM_015335.4):c.1730C>G (p.(Pro577Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999708" "0" "30" "12" "116446572" "116446572" "subst" "0" "01804" "MED13L_000195" "g.116446572T>C" "" "" "" "MED13L(NM_015335.4):c.1646A>G (p.(His549Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999709" "0" "50" "12" "116446822" "116446822" "subst" "8.12988E-6" "01804" "MED13L_000196" "g.116446822T>G" "" "" "" "MED13L(NM_015335.4):c.1396A>C (p.(Lys466Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999710" "0" "50" "12" "116446896" "116446896" "subst" "0" "02325" "MED13L_000197" "g.116446896G>A" "" "" "" "MED13L(NM_015335.5):c.1322C>T (p.P441L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999711" "0" "50" "12" "116457177" "116457178" "del" "0" "01804" "MED13L_000198" "g.116457177_116457178del" "" "" "" "MED13L(NM_015335.4):c.864_865delTC (p.(Gln289fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999712" "0" "50" "12" "116457208" "116457208" "subst" "4.07661E-6" "01804" "MED13L_000199" "g.116457208C>T" "" "" "" "MED13L(NM_015335.4):c.830G>A (p.(Arg277Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999713" "0" "30" "12" "116675505" "116675505" "subst" "0" "01804" "MED13L_000200" "g.116675505T>A" "" "" "" "MED13L(NM_015335.4):c.78A>T (p.(Glu26Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014913" "0" "50" "12" "116424081" "116424081" "subst" "4.06507E-6" "02325" "MED13L_000201" "g.116424081G>T" "" "" "" "MED13L(NM_015335.5):c.4328C>A (p.A1443D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017592" "0" "90" "12" "116452954" "116452954" "subst" "0" "03544" "MED13L_000202" "g.116452954G>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.116015149G>A" "{CV:977626}" "pathogenic" "ACMG" "0001020147" "0" "70" "12" "116675368" "116675368" "subst" "0" "03544" "MED13L_000203" "g.116675368C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.116237563C>T" "{CV:3544375}" "likely pathogenic" "ACMG" "0001026107" "0" "50" "12" "116452980" "116452980" "subst" "0" "02325" "MED13L_000128" "g.116452980G>T" "" "" "" "MED13L(NM_015335.4):c.1109C>A (p.P370Q), MED13L(NM_015335.5):c.1109C>A (p.P370Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038980" "0" "30" "12" "116401226" "116401226" "subst" "4.06421E-6" "01804" "MED13L_000204" "g.116401226C>T" "" "" "" "MED13L(NM_015335.5):c.6486G>A (p.(Thr2162=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038981" "0" "50" "12" "116403927" "116403927" "subst" "4.0655E-6" "01804" "MED13L_000205" "g.116403927G>A" "" "" "" "MED13L(NM_015335.5):c.6347C>T (p.(Ser2116Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038982" "0" "30" "12" "116418658" "116418658" "subst" "1.22099E-5" "01804" "MED13L_000206" "g.116418658A>G" "" "" "" "MED13L(NM_015335.5):c.5261T>C (p.(Val1754Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038983" "0" "30" "12" "116421046" "116421046" "subst" "1.2209E-5" "01804" "MED13L_000052" "g.116421046C>T" "" "" "" "MED13L(NM_015335.4):c.4831G>A (p.V1611I), MED13L(NM_015335.5):c.4831G>A (p.(Val1611Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038984" "0" "50" "12" "116421120" "116421120" "subst" "8.13213E-6" "01804" "MED13L_000207" "g.116421120G>A" "" "" "" "MED13L(NM_015335.5):c.4757C>T (p.(Pro1586Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038985" "0" "30" "12" "116421694" "116421694" "subst" "0" "01804" "MED13L_000208" "g.116421694G>A" "" "" "" "MED13L(NM_015335.5):c.4531+291C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038986" "0" "30" "12" "116424906" "116424906" "subst" "0.000138331" "01804" "MED13L_000209" "g.116424906G>C" "" "" "" "MED13L(NM_015335.5):c.4114+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038987" "0" "30" "12" "116446628" "116446628" "subst" "0.00138505" "01804" "MED13L_000210" "g.116446628G>A" "" "" "" "MED13L(NM_015335.5):c.1590C>T (p.(Ala530=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038988" "0" "30" "12" "116446921" "116446921" "subst" "4.06868E-5" "01804" "MED13L_000211" "g.116446921G>A" "" "" "" "MED13L(NM_015335.5):c.1297C>T (p.(Arg433Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038989" "0" "30" "12" "116452994" "116452994" "subst" "0.000707104" "01804" "MED13L_000212" "g.116452994C>T" "" "" "" "MED13L(NM_015335.5):c.1095G>A (p.(Ser365=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038990" "0" "50" "12" "116718053" "116718053" "subst" "0" "01804" "MED13L_000213" "g.116718053G>C" "" "" "" "MED13L(NM_015335.5):c.-3117C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046348" "0" "50" "12" "116429323" "116429323" "subst" "0" "02325" "MED13L_000214" "g.116429323C>T" "" "" "" "MED13L(NM_015335.5):c.3436G>A (p.G1146R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046349" "0" "10" "12" "116445470" "116445470" "del" "0" "02326" "MED13L_000083" "g.116445470del" "" "" "" "MED13L(NM_015335.4):c.2013-10delT" "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 MED13L ## Count = 227 "{{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}}" "0000040319" "00011962" "70" "3765" "0" "3765" "0" "c.3765del" "r.(?)" "p.(Cys1256Valfs*2)" "17" "0000040320" "00011962" "70" "607" "0" "607" "0" "c.607dup" "r.(?)" "p.(Ser203Phefs*32)" "5" "0000040321" "00011962" "70" "4420" "0" "4420" "0" "c.4420A>T" "r.(?)" "p.(Lys1474*)" "20" "0000040327" "00011962" "70" "2579" "0" "2579" "0" "c.2579A>G" "r.(?)" "p.(Asp860Gly)" "14" "0000079333" "00011962" "00" "1690" "0" "1690" "0" "c.1690C>T" "r.(?)" "p.(Arg564*)" "" "0000079419" "00011962" "00" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Trp110*)" "" "0000079437" "00011962" "00" "4102" "0" "4107" "0" "c.4102_4107delinsGGGA" "r.(?)" "p.(Arg1368Glyfs*10)" "" "0000079466" "00011962" "00" "6005" "0" "6005" "0" "c.6005C>T" "r.(?)" "p.(Ser2002Leu)" "" "0000079547" "00011962" "00" "2391" "0" "2397" "0" "c.2391_2397delinsAG" "r.(?)" "p.(Thr798Glyfs*10)" "" "0000079562" "00011962" "00" "5695" "0" "5695" "0" "c.5695G>A" "r.(?)" "p.(Gly1899Arg)" "" "0000165286" "00011962" "50" "6619" "0" "6619" "0" "c.6619A>G" "r.(?)" "p.(Met2207Val)" "" "0000179019" "00011962" "90" "5173" "0" "5173" "0" "c.5173C>T" "r.(?)" "p.(Gln1725*)" "" "0000179020" "00011962" "90" "2399" "0" "2399" "0" "c.2399dup" "r.(?)" "p.(Thr801Asnfs*9)" "" "0000254563" "00011962" "30" "1863" "0" "1863" "0" "c.1863T>C" "r.(?)" "p.(Ile621=)" "" "0000282453" "00011962" "50" "4988" "0" "4988" "0" "c.4988C>T" "r.(?)" "p.(Thr1663Met)" "" "0000282454" "00011962" "10" "6354" "0" "6354" "0" "c.6354C>T" "r.(?)" "p.(Pro2118=)" "" "0000282455" "00011962" "30" "969" "0" "969" "0" "c.969G>A" "r.(?)" "p.(Met323Ile)" "" "0000286231" "00011962" "90" "6341" "0" "6341" "0" "c.6341G>A" "r.(?)" "p.(Trp2114Ter)" "" "0000291696" "00011962" "10" "2013" "-9" "2013" "-9" "c.2013-9G>T" "r.(=)" "p.(=)" "" "0000291697" "00011962" "90" "3701" "0" "3704" "0" "c.3701_3704del" "r.(?)" "p.(Thr1234AsnfsTer6)" "" "0000291698" "00011962" "30" "4593" "0" "4593" "0" "c.4593C>T" "r.(?)" "p.(Thr1531=)" "" "0000291699" "00011962" "90" "4664" "0" "4664" "0" "c.4664del" "r.(?)" "p.(Ala1555ValfsTer45)" "" "0000323109" "00011962" "50" "6518" "0" "6518" "0" "c.6518dup" "r.(?)" "p.(Tyr2173Ter)" "" "0000323112" "00011962" "30" "4859" "0" "4859" "0" "c.4859G>A" "r.(?)" "p.(Gly1620Asp)" "" "0000323113" "00011962" "30" "4697" "0" "4697" "0" "c.4697C>T" "r.(?)" "p.(Ser1566Leu)" "" "0000323114" "00011962" "30" "4691" "0" "4691" "0" "c.4691C>T" "r.(?)" "p.(Pro1564Leu)" "" "0000323115" "00011962" "50" "4468" "0" "4468" "0" "c.4468G>A" "r.(?)" "p.(Gly1490Ser)" "" "0000323117" "00011962" "50" "4180" "0" "4180" "0" "c.4180C>G" "r.(?)" "p.(Leu1394Val)" "" "0000323118" "00011962" "50" "2569" "2" "2569" "2" "c.2569+2T>C" "r.spl?" "p.?" "" "0000323119" "00011962" "50" "2101" "0" "2101" "0" "c.2101C>G" "r.(?)" "p.(Leu701Val)" "" "0000323121" "00011962" "50" "1192" "0" "1192" "0" "c.1192A>C" "r.(?)" "p.(Thr398Pro)" "" "0000323122" "00011962" "30" "1120" "0" "1120" "0" "c.1120A>G" "r.(?)" "p.(Asn374Asp)" "" "0000343113" "00011962" "90" "1690" "0" "1690" "0" "c.1690C>T" "r.(?)" "p.(Arg564Ter)" "" "0000344241" "00011962" "70" "3392" "0" "3392" "0" "c.3392G>A" "r.(?)" "p.(Cys1131Tyr)" "" "0000344567" "00011962" "70" "4552" "0" "4552" "0" "c.4552C>T" "r.(?)" "p.(Gln1518Ter)" "" "0000344591" "00011962" "70" "4840" "0" "4840" "0" "c.4840C>T" "r.(?)" "p.(Gln1614Ter)" "" "0000349927" "00011962" "90" "4584" "0" "4584" "0" "c.4584dup" "r.(?)" "p.(Tyr1529IlefsTer35)" "" "0000368408" "00011962" "70" "5941" "0" "5941" "0" "c.5941C>T" "r.(?)" "p.(Gln1981*)" "27" "0000408762" "00011962" "90" "5695" "0" "5695" "0" "c.5695G>A" "r.(?)" "p.(Gly1899Arg)" "25" "0000408763" "00011962" "90" "2524" "0" "2524" "0" "c.2524C>T" "r.(?)" "p.(Arg842*)" "14" "0000546720" "00011962" "30" "6549" "0" "6549" "0" "c.6549G>A" "r.(?)" "p.(Pro2183=)" "" "0000546721" "00011962" "30" "6068" "-8" "6068" "-8" "c.6068-8C>T" "r.(=)" "p.(=)" "" "0000546722" "00011962" "70" "5695" "0" "5695" "0" "c.5695G>A" "r.(?)" "p.(Gly1899Arg)" "" "0000546723" "00011962" "50" "5364" "8" "5364" "8" "c.5364+8T>G" "r.(=)" "p.(=)" "" "0000546725" "00011962" "70" "4956" "-17" "4956" "-17" "c.4956-17A>G" "r.(=)" "p.(=)" "" "0000546726" "00011962" "30" "4831" "0" "4831" "0" "c.4831G>A" "r.(?)" "p.(Val1611Ile)" "" "0000546727" "00011962" "10" "4744" "0" "4744" "0" "c.4744T>A" "r.(?)" "p.(Ser1582Thr)" "" "0000546728" "00011962" "30" "4459" "0" "4459" "0" "c.4459C>A" "r.(?)" "p.(Pro1487Thr)" "" "0000546729" "00011962" "90" "4156" "0" "4156" "0" "c.4156del" "r.(?)" "p.(Leu1386TrpfsTer2)" "" "0000546731" "00011962" "30" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Ile)" "" "0000546732" "00011962" "50" "3699" "0" "3699" "0" "c.3699C>A" "r.(?)" "p.(His1233Gln)" "" "0000546733" "00011962" "30" "3512" "0" "3512" "0" "c.3512A>G" "r.(?)" "p.(Lys1171Arg)" "" "0000546734" "00011962" "50" "3506" "0" "3506" "0" "c.3506A>G" "r.(?)" "p.(Asn1169Ser)" "" "0000546735" "00011962" "90" "3474" "0" "3474" "0" "c.3474C>G" "r.(?)" "p.(Tyr1158Ter)" "" "0000546736" "00011962" "30" "3273" "0" "3273" "0" "c.3273C>T" "r.(?)" "p.(Pro1091=)" "" "0000546737" "00011962" "30" "3231" "0" "3231" "0" "c.3231C>T" "r.(?)" "p.(Thr1077=)" "" "0000546738" "00011962" "30" "2871" "0" "2871" "0" "c.2871G>A" "r.(?)" "p.(Pro957=)" "" "0000546743" "00011962" "30" "2282" "0" "2282" "0" "c.2282A>G" "r.(?)" "p.(His761Arg)" "" "0000546745" "00011962" "30" "2056" "0" "2056" "0" "c.2056A>C" "r.(?)" "p.(Lys686Gln)" "" "0000546746" "00011962" "30" "2056" "0" "2056" "0" "c.2056A>C" "r.(?)" "p.(Lys686Gln)" "" "0000546747" "00011962" "30" "2049" "0" "2049" "0" "c.2049G>T" "r.(?)" "p.(Trp683Cys)" "" "0000546748" "00011962" "30" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Pro676Ser)" "" "0000546750" "00011962" "30" "2019" "0" "2019" "0" "c.2019A>T" "r.(?)" "p.(Leu673Phe)" "" "0000546752" "00011962" "30" "2013" "-1" "2013" "-1" "c.2013-1G>T" "r.spl?" "p.?" "" "0000546753" "00011962" "30" "2013" "-2" "2013" "-2" "c.2013-2del" "r.spl?" "p.?" "" "0000546755" "00011962" "30" "2013" "-7" "2013" "-7" "c.2013-7C>G" "r.(=)" "p.(=)" "" "0000546756" "00011962" "30" "2013" "-9" "2013" "-7" "c.2013-9_2013-7del" "r.(=)" "p.(=)" "" "0000546758" "00011962" "10" "2013" "-18" "2013" "-10" "c.2013-18_2013-10dup" "r.(=)" "p.(=)" "" "0000546759" "00011962" "10" "2013" "-10" "2013" "-10" "c.2013-10del" "r.(=)" "p.(=)" "" "0000546760" "00011962" "30" "2013" "-10" "2013" "-10" "c.2013-10dup" "r.(=)" "p.(=)" "" "0000546761" "00011962" "30" "2012" "14" "2012" "15" "c.2012+14_2012+15del" "r.(=)" "p.(=)" "" "0000546763" "00011962" "30" "1877" "0" "1877" "0" "c.1877C>T" "r.(?)" "p.(Pro626Leu)" "" "0000546764" "00011962" "30" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Ile552Val)" "" "0000546765" "00011962" "30" "1589" "0" "1589" "0" "c.1589C>T" "r.(?)" "p.(Ala530Val)" "" "0000546766" "00011962" "30" "1543" "0" "1543" "0" "c.1543T>G" "r.(?)" "p.(Ser515Ala)" "" "0000546767" "00011962" "30" "1543" "0" "1543" "0" "c.1543T>A" "r.(?)" "p.(Ser515Thr)" "" "0000546768" "00011962" "30" "1283" "0" "1283" "0" "c.1283A>G" "r.(?)" "p.(His428Arg)" "" "0000546770" "00011962" "10" "1283" "0" "1283" "0" "c.1283A>G" "r.(?)" "p.(His428Arg)" "" "0000546771" "00011962" "50" "1192" "0" "1192" "0" "c.1192A>C" "r.(?)" "p.(Thr398Pro)" "" "0000546772" "00011962" "30" "1008" "0" "1008" "0" "c.1008A>C" "r.(?)" "p.(Leu336=)" "" "0000546773" "00011962" "30" "993" "0" "993" "0" "c.993A>G" "r.(?)" "p.(Pro331=)" "" "0000546774" "00011962" "30" "969" "0" "969" "0" "c.969G>A" "r.(?)" "p.(Met323Ile)" "" "0000546775" "00011962" "50" "877" "0" "877" "0" "c.877C>A" "r.(?)" "p.(Pro293Thr)" "" "0000546776" "00011962" "10" "579" "0" "579" "0" "c.579T>C" "r.(?)" "p.(Asn193=)" "" "0000546778" "00011962" "30" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Ala12=)" "" "0000613882" "00011962" "30" "6549" "0" "6549" "0" "c.6549G>A" "r.(?)" "p.(Pro2183=)" "" "0000613884" "00011962" "30" "4697" "0" "4697" "0" "c.4697C>T" "r.(?)" "p.(Ser1566Leu)" "" "0000613885" "00011962" "30" "4458" "0" "4458" "0" "c.4458G>A" "r.(?)" "p.(Gln1486=)" "" "0000613886" "00011962" "30" "4119" "0" "4119" "0" "c.4119G>A" "r.(?)" "p.(Ser1373=)" "" "0000613887" "00011962" "30" "3643" "0" "3643" "0" "c.3643A>T" "r.(?)" "p.(Thr1215Ser)" "" "0000613888" "00011962" "70" "3482" "0" "3482" "0" "c.3482C>T" "r.(?)" "p.(Thr1161Ile)" "" "0000613889" "00011962" "30" "3258" "0" "3258" "0" "c.3258C>T" "r.(?)" "p.(Pro1086=)" "" "0000613890" "00011962" "30" "3214" "0" "3214" "0" "c.3214G>A" "r.(?)" "p.(Val1072Ile)" "" "0000613891" "00011962" "70" "2614" "0" "2614" "0" "c.2614G>A" "r.(?)" "p.(Glu872Lys)" "" "0000613892" "00011962" "90" "2590" "0" "2590" "0" "c.2590A>T" "r.(?)" "p.(Met864Leu)" "" "0000613893" "00011962" "50" "2300" "0" "2300" "0" "c.2300A>G" "r.(?)" "p.(Asp767Gly)" "" "0000613894" "00011962" "30" "2211" "0" "2211" "0" "c.2211G>A" "r.(?)" "p.(Thr737=)" "" "0000613895" "00011962" "10" "2013" "-11" "2013" "-10" "c.2013-11_2013-10dup" "r.(=)" "p.(=)" "" "0000613896" "00011962" "30" "1797" "0" "1797" "0" "c.1797T>C" "r.(?)" "p.(Thr599=)" "" "0000613897" "00011962" "30" "1383" "0" "1383" "0" "c.1383T>G" "r.(?)" "p.(Pro461=)" "" "0000613898" "00011962" "30" "821" "-4" "821" "-4" "c.821-4A>G" "r.spl?" "p.?" "" "0000613899" "00011962" "50" "656" "0" "656" "0" "c.656C>T" "r.(?)" "p.(Thr219Met)" "" "0000613900" "00011962" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Tyr150=)" "" "0000613901" "00011962" "50" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62His)" "" "0000622790" "00011962" "50" "4957" "0" "4957" "0" "c.4957G>A" "r.(?)" "p.(Val1653Ile)" "" "0000622791" "00011962" "10" "2013" "-12" "2013" "-10" "c.2013-12_2013-10dup" "r.(=)" "p.(=)" "" "0000631930" "00011962" "90" "627" "0" "627" "0" "c.627dup" "r.(?)" "p.(Leu210Thrfs*25)" "" "0000631931" "00011962" "90" "82" "0" "82" "0" "c.82dup" "r.(?)" "p.(Thr28Asnfs*7)" "" "0000653451" "00011962" "90" "3450" "0" "3450" "0" "c.3450del" "r.(?)" "p.(Asp1151Ilefs*18)" "" "0000660575" "00011962" "90" "6118" "0" "6125" "0" "c.6118_6125del" "r.(?)" "p.(Gly2040Asnfs*32)" "" "0000667299" "00011962" "70" "1708" "0" "1709" "0" "c.1708_1709del" "r.(?)" "p.(Ser570Phefs*27)" "" "0000674012" "00011962" "90" "1852" "0" "1852" "0" "c.1852dup" "r.(?)" "p.(Tyr618Leufs*5)" "" "0000679407" "00011962" "30" "4868" "0" "4868" "0" "c.4868C>T" "r.(?)" "p.(Ala1623Val)" "" "0000679408" "00011962" "90" "4859" "0" "4859" "0" "c.4859del" "r.(?)" "p.(Gly1620AlafsTer11)" "" "0000679409" "00011962" "90" "3841" "0" "3841" "0" "c.3841C>T" "r.(?)" "p.(Gln1281Ter)" "" "0000679410" "00011962" "30" "2490" "0" "2490" "0" "c.2490C>G" "r.(?)" "p.(Arg830=)" "" "0000679411" "00011962" "30" "1109" "0" "1109" "0" "c.1109C>A" "r.(?)" "p.(Pro370Gln)" "" "0000697194" "00011962" "90" "480" "-1" "480" "-1" "c.480-1G>T" "r.480_524del" "p.Ser160_Glu174del" "" "0000697196" "00011962" "90" "480" "-194" "5175" "201" "c.(?_480-194)_(5175+201_?)del" "r.?" "p.?" "5i_20i" "0000697197" "00011962" "90" "73" "-15612" "310" "1008" "c.(73-16444_73-15612)_(310+1008_310+3899)del" "r.?" "p.?" "1i_2i" "0000697198" "00011962" "90" "311" "-42125" "480" "-16209" "c.(310+42940_311-42125)_(480-16209_480-16168)del" "r.?" "p.?" "2i_4i" "0000697199" "00011962" "90" "0" "0" "0" "0" "c.-55_*2690{2}" "r.?" "p.?" "_1_31_" "0000698823" "00011962" "90" "6485" "0" "6485" "0" "c.6485C>T" "r.(?)" "p.(Thr2162Met)" "" "0000723854" "00011962" "90" "6485" "0" "6485" "0" "c.6485C>T" "r.(?)" "p.(Thr2162Met)" "" "0000723855" "00011962" "30" "5732" "-3" "5732" "-3" "c.5732-3C>T" "r.spl?" "p.?" "" "0000723856" "00011962" "30" "5502" "0" "5502" "0" "c.5502C>T" "r.(?)" "p.(His1834=)" "" "0000723857" "00011962" "30" "4697" "0" "4697" "0" "c.4697C>T" "r.(?)" "p.(Ser1566Leu)" "" "0000723858" "00011962" "30" "4691" "0" "4691" "0" "c.4691C>T" "r.(?)" "p.(Pro1564Leu)" "" "0000723859" "00011962" "50" "4190" "0" "4190" "0" "c.4190C>T" "r.(?)" "p.(Ser1397Leu)" "" "0000723860" "00011962" "30" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Ile)" "" "0000723861" "00011962" "50" "3187" "0" "3187" "0" "c.3187G>T" "r.(?)" "p.(Gly1063Trp)" "" "0000723862" "00011962" "70" "2606" "0" "2606" "0" "c.2606C>T" "r.(?)" "p.(Pro869Leu)" "" "0000723863" "00011962" "50" "2590" "0" "2590" "0" "c.2590A>T" "r.(?)" "p.(Met864Leu)" "" "0000723864" "00011962" "90" "2071" "0" "2071" "0" "c.2071C>T" "r.(?)" "p.(Gln691Ter)" "" "0000723865" "00011962" "50" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Ala283Thr)" "" "0000723866" "00011962" "30" "650" "0" "650" "0" "c.650A>C" "r.(?)" "p.(Asn217Thr)" "" "0000805546" "00011962" "70" "6005" "0" "6005" "0" "c.6005C>T" "r.(?)" "p.(Ser2002Leu)" "" "0000805547" "00011962" "30" "4459" "0" "4459" "0" "c.4459C>A" "r.(?)" "p.(Pro1487Thr)" "" "0000805548" "00011962" "30" "3512" "0" "3512" "0" "c.3512A>G" "r.(?)" "p.(Lys1171Arg)" "" "0000805549" "00011962" "30" "3207" "0" "3207" "0" "c.3207A>G" "r.(?)" "p.(Gln1069=)" "" "0000805550" "00011962" "10" "2013" "-9" "2013" "-9" "c.2013-9G>T" "r.(=)" "p.(=)" "" "0000805551" "00011962" "50" "1547" "0" "1547" "0" "c.1547C>A" "r.(?)" "p.(Ser516Tyr)" "" "0000805552" "00011962" "50" "1280" "3" "1280" "3" "c.1280+3A>G" "r.spl?" "p.?" "" "0000805553" "00011962" "50" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "0000833440" "00011962" "70" "3627" "0" "3630" "0" "c.3627_3630del" "r.(?)" "p.(Pro1210Argfs*13)" "" "0000837159" "00011962" "70" "6488" "0" "6488" "0" "c.6488C>T" "r.(?)" "p.(Ser2163Leu)" "" "0000841842" "00011962" "90" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Trp110Ter)" "" "0000853282" "00011962" "30" "4467" "0" "4467" "0" "c.4467C>T" "r.(?)" "p.(Ser1489=)" "" "0000853283" "00011962" "30" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Ile552Val)" "" "0000862819" "00011962" "50" "6457" "0" "6457" "0" "c.6457G>T" "r.(?)" "p.(Val2153Phe)" "" "0000862820" "00011962" "90" "5432" "0" "5433" "0" "c.5432_5433del" "r.(?)" "p.(Glu1811Alafs*7)" "" "0000862821" "00011962" "90" "5278" "0" "5278" "0" "c.5278C>T" "r.(?)" "p.(Arg1760*)" "" "0000890293" "00011962" "90" "5603" "0" "5607" "0" "c.5603_5607del" "r.(?)" "p.(Lys1868Ilefs*4)" "" "0000890294" "00011962" "90" "3191" "0" "3191" "0" "c.3191dup" "r.(?)" "p.(Thr1065Hisfs*9)" "" "0000890295" "00011962" "50" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Pro879Ser)" "" "0000890296" "00011962" "10" "2013" "-10" "2013" "-10" "c.2013-10dup" "r.(=)" "p.(=)" "" "0000890297" "00011962" "50" "1839" "0" "1839" "0" "c.1839C>T" "r.(?)" "p.(Ser613=)" "" "0000890298" "00011962" "30" "1393" "0" "1395" "0" "c.1393_1395del" "r.(?)" "p.(Ser465del)" "" "0000890299" "00011962" "50" "250" "0" "250" "0" "c.250T>C" "r.(?)" "p.(Trp84Arg)" "" "0000902069" "00011962" "90" "5731" "2" "5731" "2" "c.5731+2T>C" "r.spl?" "p.?" "24i" "0000913762" "00011962" "50" "6401" "0" "6401" "0" "c.6401A>G" "r.(?)" "p.(His2134Arg)" "" "0000913763" "00011962" "70" "5732" "-1" "5732" "-1" "c.5732-1G>A" "r.spl?" "p.?" "" "0000913764" "00011962" "70" "5731" "2" "5731" "2" "c.5731+2T>C" "r.spl?" "p.?" "" "0000913765" "00011962" "30" "2013" "-5" "2013" "-5" "c.2013-5T>C" "r.spl?" "p.?" "" "0000913766" "00011962" "50" "725" "0" "725" "0" "c.725T>G" "r.(?)" "p.(Phe242Cys)" "" "0000925545" "00011962" "50" "6244" "0" "6244" "0" "c.6244C>T" "r.(?)" "p.(Leu2082Phe)" "" "0000930021" "00011962" "30" "5308" "0" "5308" "0" "c.5308T>C" "r.(?)" "p.(Ser1770Pro)" "" "0000930022" "00011962" "50" "5043" "0" "5043" "0" "c.5043G>T" "r.(?)" "p.(Met1681Ile)" "" "0000930023" "00011962" "30" "3788" "0" "3788" "0" "c.3788G>A" "r.(?)" "p.(Arg1263Gln)" "" "0000936474" "00011962" "70" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Pro573Leu)" "" "0000939857" "00011962" "70" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Gln689Ter)" "11" "0000949851" "00011962" "30" "1924" "0" "1924" "0" "c.1924G>C" "r.(?)" "p.(Asp642His)" "" "0000966733" "00011962" "30" "1503" "0" "1503" "0" "c.1503A>G" "r.(?)" "p.(=)" "" "0000966734" "00011962" "10" "311" "-4" "311" "-4" "c.311-4del" "r.spl?" "p.?" "" "0000966735" "00011962" "30" "73" "-10" "73" "-9" "c.73-10_73-9dup" "r.(=)" "p.(=)" "" "0000980046" "00011962" "30" "4955" "9" "4955" "9" "c.4955+9T>C" "r.(=)" "p.(=)" "" "0000980047" "00011962" "30" "4774" "0" "4774" "0" "c.4774T>C" "r.(?)" "p.(Ser1592Pro)" "" "0000980048" "00011962" "50" "4171" "0" "4171" "0" "c.4171A>G" "r.(?)" "p.(Lys1391Glu)" "" "0000980049" "00011962" "30" "3113" "0" "3113" "0" "c.3113T>A" "r.(?)" "p.(Leu1038Gln)" "" "0000980050" "00011962" "50" "2314" "0" "2314" "0" "c.2314A>G" "r.(?)" "p.(Met772Val)" "" "0000980051" "00011962" "50" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Glu332Lys)" "" "0000980052" "00011962" "30" "948" "0" "948" "0" "c.948G>A" "r.(?)" "p.(=)" "" "0000980053" "00011962" "50" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Lys)" "" "0000980054" "00011962" "50" "-42" "0" "-42" "0" "c.-42C>T" "r.(?)" "p.(=)" "" "0000989382" "00011962" "70" "758" "0" "758" "0" "c.758del" "r.(?)" "p.(Ser253*)" "6" "0000999689" "00011962" "30" "6457" "0" "6457" "0" "c.6457G>T" "r.(?)" "p.(Val2153Phe)" "" "0000999690" "00011962" "70" "6237" "0" "6237" "0" "c.6237dup" "r.(?)" "p.(Arg2080Alafs*5)" "" "0000999691" "00011962" "30" "5902" "0" "5902" "0" "c.5902A>G" "r.(?)" "p.(Met1968Val)" "" "0000999692" "00011962" "90" "5699" "0" "5699" "0" "c.5699del" "r.(?)" "p.(Arg1900Hisfs*61)" "" "0000999693" "00011962" "30" "4932" "0" "4932" "0" "c.4932G>C" "r.(?)" "p.(Gln1644His)" "" "0000999694" "00011962" "30" "4921" "0" "4921" "0" "c.4921A>G" "r.(?)" "p.(Ser1641Gly)" "" "0000999695" "00011962" "90" "4792" "0" "4792" "0" "c.4792C>T" "r.(?)" "p.(Gln1598*)" "" "0000999696" "00011962" "50" "4786" "0" "4786" "0" "c.4786A>G" "r.(?)" "p.(Ile1596Val)" "" "0000999697" "00011962" "50" "4532" "-7" "4532" "-7" "c.4532-7C>A" "r.(=)" "p.(=)" "" "0000999698" "00011962" "30" "3801" "0" "3801" "0" "c.3801T>A" "r.(?)" "p.(Asp1267Glu)" "" "0000999699" "00011962" "30" "3751" "0" "3751" "0" "c.3751C>T" "r.(?)" "p.(Arg1251Cys)" "" "0000999700" "00011962" "50" "3599" "0" "3599" "0" "c.3599G>A" "r.(?)" "p.(Arg1200His)" "" "0000999701" "00011962" "30" "3214" "0" "3214" "0" "c.3214G>A" "r.(?)" "p.(Val1072Ile)" "" "0000999702" "00011962" "30" "3067" "0" "3067" "0" "c.3067A>G" "r.(?)" "p.(Thr1023Ala)" "" "0000999703" "00011962" "30" "2707" "0" "2707" "0" "c.2707G>A" "r.(?)" "p.(Val903Ile)" "" "0000999704" "00011962" "30" "2269" "0" "2269" "0" "c.2269A>G" "r.(?)" "p.(Thr757Ala)" "" "0000999705" "00011962" "30" "1924" "0" "1924" "0" "c.1924G>C" "r.(?)" "p.(Asp642His)" "" "0000999706" "00011962" "30" "1897" "0" "1897" "0" "c.1897T>G" "r.(?)" "p.(Trp633Gly)" "" "0000999707" "00011962" "50" "1730" "0" "1730" "0" "c.1730C>G" "r.(?)" "p.(Pro577Arg)" "" "0000999708" "00011962" "30" "1646" "0" "1646" "0" "c.1646A>G" "r.(?)" "p.(His549Arg)" "" "0000999709" "00011962" "50" "1396" "0" "1396" "0" "c.1396A>C" "r.(?)" "p.(Lys466Gln)" "" "0000999710" "00011962" "50" "1322" "0" "1322" "0" "c.1322C>T" "r.(?)" "p.(Pro441Leu)" "" "0000999711" "00011962" "50" "864" "0" "865" "0" "c.864_865del" "r.(?)" "p.(Gln289Glufs*2)" "" "0000999712" "00011962" "50" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277Gln)" "" "0000999713" "00011962" "30" "78" "0" "78" "0" "c.78A>T" "r.(?)" "p.(Glu26Asp)" "" "0001014913" "00011962" "50" "4328" "0" "4328" "0" "c.4328C>A" "r.(?)" "p.(Ala1443Asp)" "" "0001017592" "00011962" "90" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Arg379*)" "8" "0001020147" "00011962" "70" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Trp72*)" "2" "0001026107" "00011962" "50" "1109" "0" "1109" "0" "c.1109C>A" "r.(?)" "p.(Pro370Gln)" "" "0001038980" "00011962" "30" "6486" "0" "6486" "0" "c.6486G>A" "r.(?)" "p.(=)" "" "0001038981" "00011962" "50" "6347" "0" "6347" "0" "c.6347C>T" "r.(?)" "p.(Ser2116Leu)" "" "0001038982" "00011962" "30" "5261" "0" "5261" "0" "c.5261T>C" "r.(?)" "p.(Val1754Ala)" "" "0001038983" "00011962" "30" "4831" "0" "4831" "0" "c.4831G>A" "r.(?)" "p.(Val1611Ile)" "" "0001038984" "00011962" "50" "4757" "0" "4757" "0" "c.4757C>T" "r.(?)" "p.(Pro1586Leu)" "" "0001038985" "00011962" "30" "4531" "291" "4531" "291" "c.4531+291C>T" "r.(=)" "p.(=)" "" "0001038986" "00011962" "30" "4114" "8" "4114" "8" "c.4114+8C>G" "r.(=)" "p.(=)" "" "0001038987" "00011962" "30" "1590" "0" "1590" "0" "c.1590C>T" "r.(?)" "p.(=)" "" "0001038988" "00011962" "30" "1297" "0" "1297" "0" "c.1297C>T" "r.(?)" "p.(Arg433Cys)" "" "0001038989" "00011962" "30" "1095" "0" "1095" "0" "c.1095G>A" "r.(?)" "p.(=)" "" "0001038990" "00011962" "50" "-3117" "0" "-3117" "0" "c.-3117C>G" "r.(?)" "p.(=)" "" "0001046348" "00011962" "50" "3436" "0" "3436" "0" "c.3436G>A" "r.(?)" "p.(Gly1146Arg)" "" "0001046349" "00011962" "10" "2013" "-10" "2013" "-10" "c.2013-10del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{variantid}}" "0000019856" "0000040319" "0000019860" "0000040320" "0000019861" "0000040321" "0000019864" "0000040327" "0000050353" "0000079333" "0000050439" "0000079419" "0000050457" "0000079437" "0000050486" "0000079466" "0000050567" "0000079547" "0000050582" "0000079562" "0000102547" "0000165286" "0000111861" "0000179019" "0000111862" "0000179020" "0000164796" "0000368408" "0000164797" "0000368408" "0000184639" "0000408762" "0000184640" "0000408763" "0000277186" "0000631930" "0000277187" "0000631931" "0000296746" "0000653451" "0000297875" "0000660575" "0000303897" "0000667299" "0000307389" "0000674012" "0000315119" "0000697194" "0000315120" "0000697196" "0000315121" "0000697197" "0000315122" "0000697198" "0000315123" "0000697199" "0000316662" "0000698823" "0000400527" "0000833440" "0000402880" "0000837159" "0000425351" "0000902069" "0000440179" "0000936474" "0000441915" "0000939857" "0000454534" "0000989382" "0000459538" "0001017592" "0000461056" "0001020147"