### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAB21L1) # 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}}" "MAB21L1" "mab-21-like 1 (C. elegans)" "13" "q13.3" "unknown" "NG_016811.1" "UD_132118315747" "" "https://www.LOVD.nl/MAB21L1" "" "1" "6757" "4081" "601280" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/MAB21L1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-06-28 11:40:33" "00000" "2022-05-09 15:51:19" ## 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}}" "00011628" "MAB21L1" "mab-21-like 1 (C. elegans)" "001" "NM_005584.4" "" "NP_005575.1" "" "" "" "-557" "2350" "1080" "36050832" "36047926" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00356" "MCOP" "microphthalmia (MCOP)" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2015-12-07 07:11:25" "01178" "AN" "aniridia (AN)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-07-12 09:10:59" "05611" "NDD" "neurodevelopmental delay (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2019-08-07 19:22:28" "05951" "COFG" "cerebellar, ocular, craniofacial, and genital syndrome (COFG)" "AR" "618479" "" "" "" "00006" "2021-06-28 11:42:50" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MAB21L1" "05951" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00336029" "" "" "" "2" "" "04021" "{PMID:Seese 2021:33973683}, {DOI:Seese 2021:10.1002/humu.24218}" "2 generation family, affected female child and father, unaffected mother (does not have variant)" "F" "" "Dominican Republic" "" "0" "" "" "black, Hispanic" "Fam1PatB" "00336030" "" "" "" "1" "" "04021" "{PMID:Seese 2021:33973683}, {DOI:Seese 2021:10.1002/humu.24218}" "2 generation family with 1 affected child (compound heterozygote), unaffected parents (parents not tested for variants)" "F" "" "" "" "" "" "" "South Asian" "" "00336031" "" "" "" "1" "" "04021" "{PMID:Seese 2021:33973683}, {DOI:Seese 2021:10.1002/humu.24218}" "2 generation family: affected child (compound heterozygote) and unaffected parents (one carries coding, other carries noncoding variant)" "F" "" "Australia" "" "" "" "" "white" "" "00376964" "" "" "00336029" "1" "" "00006" "{PMID:Seese 2021:33973683}, {DOI:Seese 2021:10.1002/humu.24218}" "father" "M" "" "Dominican Republic" "" "0" "" "" "black, Hispanic" "Fam1PatA" "00376965" "" "" "" "1" "" "00006" "{PMID:Bruel 2017:27103078}" "" "M" "yes" "Algeria" "" "0" "" "" "" "patient" "00376966" "" "" "" "3" "" "00006" "{DB:CLN}{PMID:Rad 2019:30487245}" "4-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Turkey" "" "0" "" "" "" "Fam5" "00376967" "" "" "" "1" "" "00006" "{PMID:Rad 2019:30487245}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "Fam4" "00376968" "" "" "" "1" "" "00006" "{PMID:Rad 2019:30487245}" "2-generation family, 1 affected, unaffected heterozygous carrier parent" "F" "yes" "Lebanon" "" "0" "" "" "Shia" "Fam3" "00376969" "" "" "" "1" "" "00006" "{PMID:Rad 2019:30487245}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "Persia" "Fam2" "00376970" "" "" "" "4" "" "00006" "{PMID:Rad 2019:30487245}" "6-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "" "" "0" "" "" "Persia" "Fam1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00336029" "01178" "00336030" "00356" "00336031" "00356" "00376964" "01178" "00376965" "00198" "00376966" "05611" "00376967" "05611" "00376968" "05611" "00376969" "05611" "00376970" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00356, 01178, 05611, 05951 ## Count = 10 "{{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}}" "0000253925" "01178" "00336029" "04021" "Familial, autosomal dominant" "" "HP:0000526; HP:0000482; HP:0000568" "" "" "" "" "" "" "" "" "" "" "" "0000253926" "00356" "00336030" "04021" "Unknown" "" "HP:0000568; HP:0000589; HP:0000519" "" "" "" "" "" "" "" "" "" "" "" "0000253927" "00356" "00336031" "04021" "Unknown" "" "HP:0000568; HP:0000589" "" "" "" "" "" "" "" "" "" "" "" "0000272158" "01178" "00376964" "00006" "Unknown" "25y" "bilateral microphthalmia, microcornea, aniridia, ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272159" "00198" "00376965" "00006" "Familial, autosomal recessive" "07y" "see paper; ..., corneal dystrophy, buphthalmos, strabismus, nystagmus, cerebellar malformation; facial dysmorphism;global development delay; scrotal agenesis" "" "" "" "" "" "" "" "" "" "syndromic scrotal agenesis" "" "0000272160" "05611" "00376966" "00006" "Familial, autosomal recessive" "" "see paper; ..., corneal dystrophy, nystagmus, absent labia majora, cerebellar malformation, facial dysmorphism, global development delay, scrotal agenesis" "" "" "" "" "" "" "" "" "COFG" "syndromic neurodevelopmental disorder" "" "0000272161" "05611" "00376967" "00006" "Familial, autosomal recessive" "" "see paper; ..., corneal dystrophy, nystagmus, cerebellar malformation, facial dysmorphism, global development delay, scrotal agenesis" "" "" "" "" "" "" "" "" "COFG" "syndromic neurodevelopmental disorder" "" "0000272162" "05611" "00376968" "00006" "Familial, autosomal recessive" "" "see paper; ..., corneal dystrophy, absent labia majora, cerebellar malformation, facial dysmorphism, global development delay" "" "" "" "" "" "" "" "" "COFG" "syndromic neurodevelopmental disorder" "" "0000272163" "05611" "00376969" "00006" "Familial, autosomal recessive" "" "see paper; ..., corneal dystrophy, nystagmus, retinal dystrophy, optic atrophy, cerebellar malformation, facial dysmorphism, scrotal agenesis" "" "" "" "" "" "" "" "" "COFG" "syndromic neurodevelopmental disorder" "" "0000272164" "05611" "00376970" "00006" "Familial, autosomal recessive" "" "see paper; ..., corneal dystrophy, strabismus, nystagmus, absent labia majora, cerebellar malformation, facial dysmorphism, global development delay, scrotal agenesis" "" "" "" "" "" "" "" "" "COFG" "syndromic neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000337259" "00336029" "1" "04021" "04021" "2021-03-10 20:01:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000337260" "00336030" "1" "04021" "04021" "2021-03-10 20:59:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000337261" "00336031" "1" "04021" "04021" "2021-03-10 21:17:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000378169" "00376964" "1" "00006" "00006" "2021-06-28 11:55:32" "" "" "SEQ" "DNA" "" "" "0000378170" "00376965" "1" "00006" "00006" "2021-06-28 12:03:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000378171" "00376966" "1" "00006" "00006" "2021-06-28 12:11:32" "" "" "SEQ-NG" "DNA" "" "WES" "0000378172" "00376967" "1" "00006" "00006" "2021-06-28 12:15:23" "00006" "2021-06-28 12:17:48" "SEQ-NG" "DNA" "" "WES" "0000378173" "00376968" "1" "00006" "00006" "2021-06-28 12:20:12" "" "" "SEQ-NG" "DNA" "" "WES" "0000378174" "00376969" "1" "00006" "00006" "2021-06-28 12:56:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000378175" "00376970" "1" "00006" "00006" "2021-06-28 13:00:28" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000378169" "MAB21L1" ## 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 = 77 "{{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}}" "0000253564" "0" "10" "13" "36158038" "36158038" "subst" "0.00507056" "01943" "NBEA_000003" "g.36158038A>G" "" "" "" "NBEA(NM_015678.4):c.7039A>G (p.I2347V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35583901A>G" "" "benign" "" "0000302887" "0" "30" "13" "35923326" "35923326" "subst" "0.00805181" "01943" "NBEA_000002" "g.35923326G>A" "" "" "" "NBEA(NM_015678.4):c.5985G>A (p.E1995=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35349189G>A" "" "likely benign" "" "0000339136" "0" "50" "13" "35736019" "35736019" "subst" "0" "02327" "NBEA_000005" "g.35736019C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35161882C>T" "" "VUS" "" "0000342315" "0" "70" "13" "36129146" "36129146" "subst" "0" "02327" "NBEA_000007" "g.36129146C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35555009C>T" "" "likely pathogenic" "" "0000550711" "0" "30" "13" "35517125" "35517125" "subst" "0.000691489" "02326" "NBEA_000009" "g.35517125C>T" "" "" "" "NBEA(NM_015678.4):c.168C>T (p.L56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34942988C>T" "" "likely benign" "" "0000550712" "0" "30" "13" "35517239" "35517239" "subst" "0.0024871" "02325" "NBEA_000010" "g.35517239G>A" "" "" "" "NBEA(NM_015678.4):c.282G>A (p.T94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34943102G>A" "" "likely benign" "" "0000550713" "0" "30" "13" "35517239" "35517239" "subst" "0.0024871" "02326" "NBEA_000010" "g.35517239G>A" "" "" "" "NBEA(NM_015678.4):c.282G>A (p.T94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34943102G>A" "" "likely benign" "" "0000550714" "0" "30" "13" "35619193" "35619193" "subst" "0.0000221319" "02326" "NBEA_000011" "g.35619193T>C" "" "" "" "NBEA(NM_015678.4):c.627+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35045056T>C" "" "likely benign" "" "0000550715" "0" "30" "13" "35619476" "35619476" "subst" "0" "02327" "NBEA_000012" "g.35619476A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35045339A>T" "" "likely benign" "" "0000550716" "0" "30" "13" "35730310" "35730310" "subst" "0.0000514808" "02326" "NBEA_000013" "g.35730310T>C" "" "" "" "NBEA(NM_015678.4):c.2618T>C (p.I873T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35156173T>C" "" "likely benign" "" "0000550718" "0" "30" "13" "35733888" "35733888" "subst" "0.0000449824" "01804" "NBEA_000015" "g.35733888G>A" "" "" "" "NBEA(NM_015678.4):c.3580G>A (p.(Val1194Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35159751G>A" "" "likely benign" "" "0000550719" "0" "90" "13" "35733981" "35733982" "del" "0" "01943" "NBEA_000016" "g.35733981_35733982del" "" "" "" "NBEA(NM_015678.4):c.3673_3674delTT (p.L1225Sfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35159844_35159845del" "" "pathogenic" "" "0000550720" "0" "70" "13" "35734140" "35734140" "subst" "0" "02327" "NBEA_000017" "g.35734140C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35160003C>T" "" "likely pathogenic" "" "0000550722" "0" "30" "13" "35770061" "35770061" "subst" "0.000256939" "02326" "NBEA_000019" "g.35770061A>G" "" "" "" "NBEA(NM_015678.4):c.4988A>G (p.D1663G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35195924A>G" "" "likely benign" "" "0000550723" "0" "30" "13" "35770069" "35770069" "subst" "0.000725157" "02326" "NBEA_000020" "g.35770069G>A" "" "" "" "NBEA(NM_015678.4):c.4996G>A (p.V1666I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35195932G>A" "" "likely benign" "" "0000550724" "0" "30" "13" "35782821" "35782821" "subst" "0.000916328" "02326" "NBEA_000021" "g.35782821C>T" "" "" "" "NBEA(NM_015678.4):c.5367-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35208684C>T" "" "likely benign" "" "0000550726" "0" "30" "13" "35923332" "35923332" "subst" "0.00000827144" "02326" "NBEA_000023" "g.35923332A>G" "" "" "" "NBEA(NM_015678.4):c.5991A>G (p.V1997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35349195A>G" "" "likely benign" "" "0000550727" "0" "30" "13" "36220461" "36220461" "subst" "0.00185134" "02326" "NBEA_000024" "g.36220461G>A" "" "" "" "NBEA(NM_015678.4):c.7683G>A (p.P2561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35646324G>A" "" "likely benign" "" "0000550728" "0" "30" "13" "36220482" "36220482" "subst" "0.00123599" "02326" "NBEA_000025" "g.36220482C>T" "" "" "" "NBEA(NM_015678.4):c.7704C>T (p.H2568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35646345C>T" "" "likely benign" "" "0000614635" "0" "50" "13" "35517024" "35517024" "subst" "0" "02325" "NBEA_000026" "g.35517024G>C" "" "" "" "NBEA(NM_015678.4):c.67G>C (p.G23R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34942887G>C" "" "VUS" "" "0000614636" "0" "30" "13" "35730276" "35730276" "subst" "0.0000183016" "01943" "NBEA_000027" "g.35730276A>T" "" "" "" "NBEA(NM_015678.4):c.2584A>T (p.M862L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35156139A>T" "" "likely benign" "" "0000614637" "0" "50" "13" "35751209" "35751209" "subst" "0.0000866979" "02325" "NBEA_000028" "g.35751209A>G" "" "" "" "NBEA(NM_015678.4):c.4631A>G (p.N1544S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35177072A>G" "" "VUS" "" "0000614638" "0" "70" "13" "36006464" "36006464" "subst" "0" "02327" "NBEA_000029" "g.36006464C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35432327C>T" "" "likely pathogenic" "" "0000614639" "0" "70" "13" "36026240" "36026240" "del" "0" "02327" "NBEA_000030" "g.36026240del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35452103del" "" "likely pathogenic" "" "0000614640" "0" "30" "13" "36239272" "36239272" "subst" "0.0025208" "02326" "NBEA_000032" "g.36239272G>T" "" "" "" "NBEA(NM_015678.4):c.8350G>T (p.V2784F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35665135G>T" "" "likely benign" "" "0000623059" "0" "30" "13" "36124631" "36124631" "subst" "0.000980943" "02326" "NBEA_000031" "g.36124631G>A" "" "" "" "NBEA(NM_015678.4):c.6603G>A (p.E2201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35550494G>A" "" "likely benign" "" "0000657302" "0" "30" "13" "35517005" "35517005" "subst" "0.000322263" "01943" "NBEA_000033" "g.35517005C>G" "" "" "" "NBEA(NM_015678.4):c.48C>G (p.P16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34942868C>G" "" "likely benign" "" "0000657303" "0" "30" "13" "36239272" "36239272" "subst" "0.0025208" "02325" "NBEA_000032" "g.36239272G>T" "" "" "" "NBEA(NM_015678.4):c.8350G>T (p.V2784F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35665135G>T" "" "likely benign" "" "0000679801" "0" "30" "13" "35733310" "35733310" "subst" "0.0000733604" "02326" "NBEA_000034" "g.35733310G>A" "" "" "" "NBEA(NM_015678.4):c.3002G>A (p.R1001Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679802" "0" "30" "13" "35733549" "35733549" "subst" "0.000484855" "02326" "NBEA_000035" "g.35733549T>A" "" "" "" "NBEA(NM_015678.4):c.3241T>A (p.L1081I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679803" "0" "30" "13" "35734141" "35734141" "subst" "0.00129967" "02326" "NBEA_000036" "g.35734141G>A" "" "" "" "NBEA(NM_015678.4):c.3833G>A (p.R1278Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679804" "0" "30" "13" "35736069" "35736069" "subst" "0.000840389" "02326" "NBEA_000037" "g.35736069A>G" "" "" "" "NBEA(NM_015678.4):c.4044A>G (p.L1348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679805" "0" "30" "13" "35770456" "35770456" "subst" "0.000573235" "02326" "NBEA_000038" "g.35770456T>C" "" "" "" "NBEA(NM_015678.4):c.5366+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691535" "0" "30" "13" "35697692" "35697692" "subst" "0" "01943" "NBEA_000039" "g.35697692C>T" "" "" "" "NBEA(NM_015678.4):c.2317C>T (p.L773=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691536" "0" "70" "13" "35770334" "35770334" "subst" "0" "02325" "NBEA_000040" "g.35770334C>T" "" "" "" "NBEA(NM_015678.4):c.5261C>T (p.P1754L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724513" "0" "50" "13" "35731345" "35731345" "subst" "0.0000370477" "02325" "NBEA_000042" "g.35731345A>G" "" "" "" "NBEA(NM_015678.4):c.2782A>G (p.I928V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724514" "0" "30" "13" "35745410" "35745410" "subst" "0.000690418" "02325" "NBEA_000018" "g.35745410C>T" "" "" "" "NBEA(NM_015678.4):c.4244C>T (p.T1415M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724515" "0" "50" "13" "35756666" "35756666" "subst" "0" "02327" "NBEA_000043" "g.35756666G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724516" "0" "30" "13" "35926478" "35926478" "subst" "0.000706957" "02326" "NBEA_000044" "g.35926478C>T" "" "" "" "NBEA(NM_015678.4):c.6179+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724517" "0" "30" "13" "36006409" "36006409" "subst" "0.000113802" "02326" "NBEA_000045" "g.36006409A>G" "" "" "" "NBEA(NM_015678.4):c.6183A>G (p.Q2061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724518" "0" "30" "13" "36006414" "36006414" "subst" "0.000356605" "02326" "NBEA_000046" "g.36006414A>G" "" "" "" "NBEA(NM_015678.4):c.6188A>G (p.H2063R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724519" "0" "70" "13" "36124665" "36124665" "subst" "0" "02329" "NBEA_000047" "g.36124665C>T" "" "" "" "NBEA(NM_015678.4):c.6637C>T (p.R2213*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724520" "0" "30" "13" "36239339" "36239339" "subst" "0.00026397" "02326" "NBEA_000048" "g.36239339T>G" "" "" "" "NBEA(NM_015678.4):c.8401+16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000736888" "11" "50" "13" "36050124" "36050124" "subst" "0" "04021" "MAB21L1_000001" "g.36050124C>A" "" "{PMID:Seese 2021:33973683}, {DOI:Seese 2021:10.1002/humu.24218}" "sseese" "" "" "Germline" "" "" "0" "" "" "g.35475987C>A" "" "VUS" "" "0000736889" "0" "50" "13" "36050092" "36050092" "subst" "0.0000365461" "04021" "MAB21L1_000002" "g.36050092G>A" "" "{PMID:Seese 2021:33973683}, {DOI:Seese 2021:10.1002/humu.24218}" "sseese" "" "" "Unknown" "" "" "0" "" "" "g.35475955G>A" "" "VUS" "" "0000736890" "0" "50" "13" "36050343" "36050343" "subst" "0" "04021" "MAB21L1_000003" "g.36050343A>G" "" "{PMID:Seese 2021:33973683}, {DOI:Seese 2021:10.1002/humu.24218}" "sseese" "" "" "Unknown" "" "" "0" "" "" "g.35476206A>G" "" "VUS" "" "0000736891" "11" "50" "13" "36049618" "36049618" "subst" "0.00000409507" "04021" "MAB21L1_000005" "g.36049618C>G" "" "{PMID:Seese 2021:33973683}, {DOI:Seese 2021:10.1002/humu.24218}" "sseese" "" "" "Germline" "" "" "0" "" "" "g.35475481C>G" "" "VUS" "" "0000736892" "21" "50" "13" "36048667" "36048667" "subst" "0" "04021" "MAB21L1_000004" "g.36048667T>C" "" "{PMID:Seese 2021:33973683}, {DOI:Seese 2021:10.1002/humu.24218}" "sseese" "" "" "Germline" "" "" "0" "" "" "g.35474530T>C" "" "VUS" "" "0000790848" "0" "50" "13" "36050124" "36050124" "subst" "0" "00006" "MAB21L1_000001" "g.36050124C>A" "" "{PMID:Seese 2021:33973683}, {DOI:Seese 2021:10.1002/humu.24218}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000790849" "3" "70" "13" "36049541" "36049541" "dup" "0" "00006" "MAB21L1_000006" "g.36049541dup" "" "{PMID:Bruel 2017:27103078}" "" "735dupG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000790850" "3" "90" "13" "36049436" "36049436" "subst" "0" "00006" "MAB21L1_000007" "g.36049436G>C" "" "{PMID:Rad 2019:30487245}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000790851" "3" "90" "13" "36049417" "36049417" "del" "0" "00006" "MAB21L1_000008" "g.36049417del" "" "{PMID:Rad 2019:30487245}" "" "859delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000790852" "3" "90" "13" "36049990" "36049997" "del" "0" "00006" "MAB21L1_000009" "g.36049990_36049997del" "" "{PMID:Rad 2019:30487245}" "" "279_286delACTGCCCG" "" "Germline" "" "" "0" "" "" "g.35475853_35475860del" "" "pathogenic (recessive)" "" "0000790853" "3" "90" "13" "36049578" "36049578" "subst" "0" "00006" "MAB21L1_000010" "g.36049578T>G" "" "{PMID:Rad 2019:30487245}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000790854" "3" "90" "13" "36049435" "36049435" "del" "0" "00006" "MAB21L1_000011" "g.36049435del" "" "{PMID:Rad 2019:30487245}" "" "841delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000806162" "0" "30" "13" "35517030" "35517030" "subst" "0.0000231305" "01943" "NBEA_000049" "g.35517030G>A" "" "" "" "NBEA(NM_015678.4):c.73G>A (p.A25T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806163" "0" "30" "13" "35517239" "35517239" "subst" "0.0024871" "02327" "NBEA_000010" "g.35517239G>A" "" "" "" "NBEA(NM_015678.4):c.282G>A (p.T94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806164" "0" "30" "13" "35716475" "35716475" "subst" "0.0000610565" "02326" "NBEA_000050" "g.35716475A>C" "" "" "" "NBEA(NM_015678.4):c.2406A>C (p.T802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806165" "0" "30" "13" "35738625" "35738625" "subst" "0.000653854" "01943" "NBEA_000051" "g.35738625C>T" "" "" "" "NBEA(NM_015678.4):c.4212C>T (p.L1404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806166" "0" "50" "13" "35747598" "35747598" "subst" "0" "01943" "NBEA_000052" "g.35747598T>A" "" "" "" "NBEA(NM_015678.4):c.4424-3T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806167" "0" "30" "13" "36141148" "36141148" "subst" "0.000640662" "02326" "NBEA_000053" "g.36141148A>C" "" "" "" "NBEA(NM_015678.4):c.7029A>C (p.=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806168" "0" "30" "13" "36220461" "36220461" "subst" "0.00185134" "01943" "NBEA_000024" "g.36220461G>A" "" "" "" "NBEA(NM_015678.4):c.7683G>A (p.P2561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853659" "0" "90" "13" "35733389" "35733389" "del" "0" "02327" "NBEA_000055" "g.35733389del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853660" "0" "30" "13" "35733541" "35733541" "subst" "0.0000366913" "01943" "NBEA_000056" "g.35733541C>T" "" "" "" "NBEA(NM_015678.4):c.3233C>T (p.P1078L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853661" "0" "30" "13" "35735913" "35735913" "subst" "0.000202137" "01943" "NBEA_000058" "g.35735913A>G" "" "" "" "NBEA(NM_015678.4):c.3888A>G (p.Q1296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853662" "0" "30" "13" "35747696" "35747696" "subst" "0.0000489728" "01943" "NBEA_000060" "g.35747696G>C" "" "" "" "NBEA(NM_015678.4):c.4519G>C (p.V1507L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853663" "0" "90" "13" "35770216" "35770217" "dup" "0" "01943" "NBEA_000061" "g.35770216_35770217dup" "" "" "" "NBEA(NM_015678.4):c.5143_5144dupCA (p.Q1715Hfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853664" "0" "30" "13" "35770406" "35770406" "subst" "0.0000571685" "02325" "NBEA_000062" "g.35770406C>G" "" "" "" "NBEA(NM_015678.4):c.5333C>G (p.A1778G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853665" "0" "30" "13" "36202323" "36202323" "subst" "0" "01943" "NBEA_000064" "g.36202323C>A" "" "" "" "NBEA(NM_015678.4):c.7555C>A (p.H2519N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853666" "0" "30" "13" "36220482" "36220482" "subst" "0.00123599" "01943" "NBEA_000025" "g.36220482C>T" "" "" "" "NBEA(NM_015678.4):c.7704C>T (p.H2568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853667" "0" "30" "13" "36229098" "36229098" "subst" "0.000251645" "01943" "NBEA_000065" "g.36229098T>A" "" "" "" "NBEA(NM_015678.4):c.8079T>A (p.L2693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863374" "0" "50" "13" "35683448" "35683448" "subst" "0" "02326" "NBEA_000054" "g.35683448A>G" "" "" "" "NBEA(NM_015678.4):c.1702A>G (p.R568G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863375" "0" "50" "13" "35734078" "35734078" "subst" "0.000117968" "02325" "NBEA_000057" "g.35734078C>T" "" "" "" "NBEA(NM_015678.4):c.3770C>T (p.A1257V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863376" "0" "30" "13" "35734141" "35734141" "subst" "0.00129967" "01943" "NBEA_000036" "g.35734141G>A" "" "" "" "NBEA(NM_015678.4):c.3833G>A (p.R1278Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863377" "0" "30" "13" "35734141" "35734141" "subst" "0.00129967" "02325" "NBEA_000036" "g.35734141G>A" "" "" "" "NBEA(NM_015678.4):c.3833G>A (p.R1278Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863378" "0" "50" "13" "35745476" "35745476" "subst" "0" "02329" "NBEA_000059" "g.35745476G>T" "" "" "" "NBEA(NM_015678.4):c.4310G>T (p.R1437L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863379" "0" "30" "13" "36124658" "36124658" "subst" "0.0000528812" "01943" "NBEA_000063" "g.36124658C>T" "" "" "" "NBEA(NM_015678.4):c.6630C>T (p.S2210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 MAB21L1 ## Count = 77 "{{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}}" "0000253564" "00011628" "10" "-107763" "0" "-107763" "0" "c.-107763T>C" "r.(?)" "p.(=)" "" "0000302887" "00011628" "30" "126950" "0" "126950" "0" "c.*125870C>T" "r.(=)" "p.(=)" "" "0000339136" "00011628" "50" "314257" "0" "314257" "0" "c.*313177G>A" "r.(=)" "p.(=)" "" "0000342315" "00011628" "70" "-78871" "0" "-78871" "0" "c.-78871G>A" "r.(?)" "p.(=)" "" "0000550711" "00011628" "30" "533151" "0" "533151" "0" "c.*532071G>A" "r.(=)" "p.(=)" "" "0000550712" "00011628" "30" "533037" "0" "533037" "0" "c.*531957C>T" "r.(=)" "p.(=)" "" "0000550713" "00011628" "30" "533037" "0" "533037" "0" "c.*531957C>T" "r.(=)" "p.(=)" "" "0000550714" "00011628" "30" "431083" "0" "431083" "0" "c.*430003A>G" "r.(=)" "p.(=)" "" "0000550715" "00011628" "30" "430800" "0" "430800" "0" "c.*429720T>A" "r.(=)" "p.(=)" "" "0000550716" "00011628" "30" "319966" "0" "319966" "0" "c.*318886A>G" "r.(=)" "p.(=)" "" "0000550718" "00011628" "30" "316388" "0" "316388" "0" "c.*315308C>T" "r.(=)" "p.(=)" "" "0000550719" "00011628" "90" "316294" "0" "316295" "0" "c.*315214_*315215del" "r.(=)" "p.(=)" "" "0000550720" "00011628" "70" "316136" "0" "316136" "0" "c.*315056G>A" "r.(=)" "p.(=)" "" "0000550722" "00011628" "30" "280215" "0" "280215" "0" "c.*279135T>C" "r.(=)" "p.(=)" "" "0000550723" "00011628" "30" "280207" "0" "280207" "0" "c.*279127C>T" "r.(=)" "p.(=)" "" "0000550724" "00011628" "30" "267455" "0" "267455" "0" "c.*266375G>A" "r.(=)" "p.(=)" "" "0000550726" "00011628" "30" "126944" "0" "126944" "0" "c.*125864T>C" "r.(=)" "p.(=)" "" "0000550727" "00011628" "30" "-170186" "0" "-170186" "0" "c.-170186C>T" "r.(?)" "p.(=)" "" "0000550728" "00011628" "30" "-170207" "0" "-170207" "0" "c.-170207G>A" "r.(?)" "p.(=)" "" "0000614635" "00011628" "50" "533252" "0" "533252" "0" "c.*532172C>G" "r.(=)" "p.(=)" "" "0000614636" "00011628" "30" "320000" "0" "320000" "0" "c.*318920T>A" "r.(=)" "p.(=)" "" "0000614637" "00011628" "50" "299067" "0" "299067" "0" "c.*297987T>C" "r.(=)" "p.(=)" "" "0000614638" "00011628" "70" "43812" "0" "43812" "0" "c.*42732G>A" "r.(=)" "p.(=)" "" "0000614639" "00011628" "70" "24036" "0" "24036" "0" "c.*22956del" "r.(?)" "p.(=)" "" "0000614640" "00011628" "30" "-188997" "0" "-188997" "0" "c.-188997C>A" "r.(?)" "p.(=)" "" "0000623059" "00011628" "30" "-74356" "0" "-74356" "0" "c.-74356C>T" "r.(?)" "p.(=)" "" "0000657302" "00011628" "30" "533271" "0" "533271" "0" "c.*532191G>C" "r.(=)" "p.(=)" "" "0000657303" "00011628" "30" "-188997" "0" "-188997" "0" "c.-188997C>A" "r.(?)" "p.(=)" "" "0000679801" "00011628" "30" "316966" "0" "316966" "0" "c.*315886C>T" "r.(=)" "p.(=)" "" "0000679802" "00011628" "30" "316727" "0" "316727" "0" "c.*315647A>T" "r.(=)" "p.(=)" "" "0000679803" "00011628" "30" "316135" "0" "316135" "0" "c.*315055C>T" "r.(=)" "p.(=)" "" "0000679804" "00011628" "30" "314207" "0" "314207" "0" "c.*313127T>C" "r.(=)" "p.(=)" "" "0000679805" "00011628" "30" "279820" "0" "279820" "0" "c.*278740A>G" "r.(=)" "p.(=)" "" "0000691535" "00011628" "30" "352584" "0" "352584" "0" "c.*351504G>A" "r.(=)" "p.(=)" "" "0000691536" "00011628" "70" "279942" "0" "279942" "0" "c.*278862G>A" "r.(=)" "p.(=)" "" "0000724513" "00011628" "50" "318931" "0" "318931" "0" "c.*317851T>C" "r.(=)" "p.(=)" "" "0000724514" "00011628" "30" "304866" "0" "304866" "0" "c.*303786G>A" "r.(=)" "p.(=)" "" "0000724515" "00011628" "50" "293610" "0" "293610" "0" "c.*292530C>A" "r.(=)" "p.(=)" "" "0000724516" "00011628" "30" "123798" "0" "123798" "0" "c.*122718G>A" "r.(=)" "p.(=)" "" "0000724517" "00011628" "30" "43867" "0" "43867" "0" "c.*42787T>C" "r.(=)" "p.(=)" "" "0000724518" "00011628" "30" "43862" "0" "43862" "0" "c.*42782T>C" "r.(=)" "p.(=)" "" "0000724519" "00011628" "70" "-74390" "0" "-74390" "0" "c.-74390G>A" "r.(?)" "p.(=)" "" "0000724520" "00011628" "30" "-189064" "0" "-189064" "0" "c.-189064A>C" "r.(?)" "p.(=)" "" "0000736888" "00011628" "50" "152" "0" "152" "0" "c.152G>T" "r.(?)" "p.(Arg51Leu)" "" "0000736889" "00011628" "50" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000736890" "00011628" "50" "-68" "0" "-68" "0" "c.-68T>C" "r.(=)" "p.(=)" "_1" "0000736891" "00011628" "50" "658" "0" "658" "0" "c.658G>C" "r.(?)" "p.(Gly220Arg)" "" "0000736892" "00011628" "50" "1609" "0" "1609" "0" "c.*529A>G" "r.(=)" "p.(=)" "" "0000790848" "00011628" "50" "152" "0" "152" "0" "c.152G>T" "r.(?)" "p.(Arg51Leu)" "" "0000790849" "00011628" "70" "735" "0" "735" "0" "c.735dup" "r.(?)" "p.(Cys246Leufs*18)" "" "0000790850" "00011628" "90" "840" "0" "840" "0" "c.840C>G" "r.(?)" "p.(Tyr280*)" "" "0000790851" "00011628" "90" "859" "0" "859" "0" "c.859del" "r.(?)" "p.(Arg287Glufs*14)" "" "0000790852" "00011628" "90" "279" "0" "286" "0" "c.279_286del" "r.(?)" "p.(Pro95Argfs*47)" "" "0000790853" "00011628" "90" "698" "0" "698" "0" "c.698A>C" "r.(?)" "p.(Gln233Pro)" "" "0000790854" "00011628" "90" "841" "0" "841" "0" "c.841del" "r.(?)" "p.(Glu281Serfs*20)" "" "0000806162" "00011628" "30" "533246" "0" "533246" "0" "c.*532166C>T" "r.(=)" "p.(=)" "" "0000806163" "00011628" "30" "533037" "0" "533037" "0" "c.*531957C>T" "r.(=)" "p.(=)" "" "0000806164" "00011628" "30" "333801" "0" "333801" "0" "c.*332721T>G" "r.(=)" "p.(=)" "" "0000806165" "00011628" "30" "311651" "0" "311651" "0" "c.*310571G>A" "r.(=)" "p.(=)" "" "0000806166" "00011628" "50" "302678" "0" "302678" "0" "c.*301598A>T" "r.(=)" "p.(=)" "" "0000806167" "00011628" "30" "-90873" "0" "-90873" "0" "c.-90873T>G" "r.(?)" "p.(=)" "" "0000806168" "00011628" "30" "-170186" "0" "-170186" "0" "c.-170186C>T" "r.(?)" "p.(=)" "" "0000853659" "00011628" "90" "316887" "0" "316887" "0" "c.*315807del" "r.(?)" "p.(=)" "" "0000853660" "00011628" "30" "316735" "0" "316735" "0" "c.*315655G>A" "r.(=)" "p.(=)" "" "0000853661" "00011628" "30" "314363" "0" "314363" "0" "c.*313283T>C" "r.(=)" "p.(=)" "" "0000853662" "00011628" "30" "302580" "0" "302580" "0" "c.*301500C>G" "r.(=)" "p.(=)" "" "0000853663" "00011628" "90" "280061" "0" "280062" "0" "c.*278981_*278982dup" "r.(=)" "p.(=)" "" "0000853664" "00011628" "30" "279870" "0" "279870" "0" "c.*278790G>C" "r.(=)" "p.(=)" "" "0000853665" "00011628" "30" "-152048" "0" "-152048" "0" "c.-152048G>T" "r.(?)" "p.(=)" "" "0000853666" "00011628" "30" "-170207" "0" "-170207" "0" "c.-170207G>A" "r.(?)" "p.(=)" "" "0000853667" "00011628" "30" "-178823" "0" "-178823" "0" "c.-178823A>T" "r.(?)" "p.(=)" "" "0000863374" "00011628" "50" "366828" "0" "366828" "0" "c.*365748T>C" "r.(=)" "p.(=)" "" "0000863375" "00011628" "50" "316198" "0" "316198" "0" "c.*315118G>A" "r.(=)" "p.(=)" "" "0000863376" "00011628" "30" "316135" "0" "316135" "0" "c.*315055C>T" "r.(=)" "p.(=)" "" "0000863377" "00011628" "30" "316135" "0" "316135" "0" "c.*315055C>T" "r.(=)" "p.(=)" "" "0000863378" "00011628" "50" "304800" "0" "304800" "0" "c.*303720C>A" "r.(=)" "p.(=)" "" "0000863379" "00011628" "30" "-74383" "0" "-74383" "0" "c.-74383G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000337259" "0000736888" "0000337260" "0000736889" "0000337260" "0000736890" "0000337261" "0000736891" "0000337261" "0000736892" "0000378169" "0000790848" "0000378170" "0000790849" "0000378171" "0000790850" "0000378172" "0000790851" "0000378173" "0000790852" "0000378174" "0000790853" "0000378175" "0000790854"