### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALG2) # 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}}" "ALG2" "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)" "9" "q31.1" "unknown" "NG_008928.1" "UD_132085293999" "" "http://www.LOVD.nl/ALG2" "Congenital Disorders of Glycosylation pages " "1" "23159" "85365" "607905" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/ALG2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2014-10-23 02:01:47" "00006" "2026-03-06 17:26:39" ## 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}}" "00002370" "ALG2" "transcript variant 1" "001" "NM_033087.3" "" "NP_149078.1" "" "" "" "-70" "2760" "1251" "101984246" "101978707" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "02720" "CDG1I" "glycosylation, congenital disorder of, type Ii (CDG-1I)" "AR" "607906" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32" "04355" "CMS14" "myasthenic syndrome, congenital, type 14, with tubular aggregates (CMS-14)" "AR" "616228" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ALG2" "00139" "ALG2" "02720" "ALG2" "04355" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00265647" "" "" "" "1" "" "00006" "{PMID:Monies 2016:27671536}" "759-gene panel analysis 50 patients suspected of LGMD" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam? / 11R-00685" "00374654" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3466" "00473694" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "no" "Iran" "" "0" "" "" "" "Fam9515597Pat1121" "00473836" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "no" "Iran" "" "0" "" "" "" "Fam9710458Pat1321" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00265647" "05126" "00374654" "00198" "00473694" "04312" "00473836" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00244, 02720, 04312, 04355, 05126 ## Count = 4 "{{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}}" "0000203434" "05126" "00265647" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "LGMD" "" "0000269864" "00198" "00374654" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000358489" "04312" "00473694" "00006" "Familial, autosomal recessive" "7y" "Poor sucking; Delay neck control; Muscle weakness, progressive, proximal>distal; Ptosis, mild, bilateral; Atrophic muscles; Joints laxity; Lumbar lordosis; Thoracic kyphoscoliosis; Waddling gait. EMG-NCV findings are consistent with NMJ disorder" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" "" "0000358631" "00244" "00473836" "00006" "Familial, autosomal recessive" "7y" "onset 6y with delayed ability to walk & stand; Difficulty walking; Decreased muscle force; Proximal muscle weakness, Lower> Upper limbs; Difficulty rising from seated position; Abnormal gait, waddling gait; Muscle biopsy: Slight myopathic atrophy of both type 2 & 1 fibers with neither lipid excess nor specific structural abnormality; EMG-NCV: myopathic process" "" "" "" "" "" "" "" "" "" "metabolic myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000266770" "00265647" "1" "00006" "00006" "2019-09-30 11:53:15" "" "" "SEQ;SEQ-NG" "DNA" "" "759-gene panel neurological disorders" "0000375848" "00374654" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000475363" "00473694" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ" "DNA" "" "" "0000475505" "00473836" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000266770" "ALG2" "0000375848" "ALG2" ## 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 = 28 "{{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}}" "0000259744" "0" "90" "9" "101984157" "101984157" "del" "0" "02325" "ALG2_000002" "g.101984157del" "" "" "" "ALG2(NM_033087.4):c.22delG (p.E8Nfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99221875del" "" "pathogenic" "" "0000332718" "0" "50" "9" "101984924" "101984924" "subst" "0" "01804" "SEC61B_000001" "g.101984924A>C" "" "" "" "SEC61B(NM_006808.2):c.100A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99222642A>C" "" "VUS" "" "0000535624" "0" "30" "9" "101980983" "101980983" "subst" "0.000320799" "01804" "ALG2_000003" "g.101980983T>C" "" "" "" "ALG2(NM_033087.3):c.484A>G (p.(Ile162Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99218701T>C" "" "likely benign" "" "0000535625" "0" "30" "9" "101983831" "101983831" "subst" "0.000114008" "01804" "ALG2_000004" "g.101983831G>C" "" "" "" "ALG2(NM_033087.3):c.346C>G (p.(Gln116Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99221549G>C" "" "likely benign" "" "0000535626" "0" "50" "9" "101983920" "101983922" "dup" "0" "02325" "ALG2_000005" "g.101983920_101983922dup" "" "" "" "ALG2(NM_033087.4):c.256_258dupCCG (p.A87dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99221638_99221640dup" "" "VUS" "" "0000535627" "0" "30" "9" "101984040" "101984040" "subst" "0" "01804" "ALG2_000006" "g.101984040C>A" "" "" "" "ALG2(NM_033087.3):c.137G>T (p.(Ser46Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99221758C>A" "" "likely benign" "" "0000535629" "0" "30" "9" "101984147" "101984147" "subst" "0.00617489" "01804" "ALG2_000008" "g.101984147G>C" "" "" "" "ALG2(NM_033087.3):c.30C>G (p.(Asp10Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99221865G>C" "" "likely benign" "" "0000597587" "3" "90" "9" "101983953" "101983963" "delins" "0" "00006" "ALG2_000009" "g.101983953_101983963delinsCGGGGACT" "" "{PMID:Monies 2016:27671536}" "" "" "ACMG PVS1, PP1-S, PM2, PM3, PM4, PP1, PP3, PP4" "Germline" "" "" "0" "" "" "g.99221671_99221681delinsCGGGGACT" "" "pathogenic" "ACMG" "0000611748" "0" "30" "9" "101980707" "101980707" "subst" "0.00394302" "01943" "ALG2_000011" "g.101980707A>G" "" "" "" "ALG2(NM_033087.3):c.760T>C (p.L254=), ALG2(NM_033087.4):c.760T>C (p.(Leu254=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99218425A>G" "" "likely benign" "" "0000611749" "0" "30" "9" "101980992" "101980992" "subst" "0.000730941" "01804" "ALG2_000012" "g.101980992T>C" "" "" "" "ALG2(NM_033087.3):c.475A>G (p.I159V, p.(Ile159Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99218710T>C" "" "likely benign" "" "0000622101" "0" "30" "9" "101980597" "101980597" "subst" "4.87282E-5" "01943" "ALG2_000010" "g.101980597C>G" "" "" "" "ALG2(NM_033087.3):c.870G>C (p.Q290H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99218315C>G" "" "likely benign" "" "0000622102" "0" "90" "9" "101983941" "101983951" "del" "0" "01943" "ALG2_000013" "g.101983941_101983951del" "" "" "" "ALG2(NM_033087.3):c.226_236delCCGCGAGGCCT (p.P76Gfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99221659_99221669del" "" "pathogenic" "" "0000690340" "0" "30" "9" "101980429" "101980429" "subst" "7.35E-5" "01943" "ALG2_000014" "g.101980429C>T" "" "" "" "ALG2(NM_033087.3):c.1038G>A (p.S346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690341" "0" "30" "9" "101980992" "101980992" "subst" "0.000730941" "01943" "ALG2_000012" "g.101980992T>C" "" "" "" "ALG2(NM_033087.3):c.475A>G (p.I159V, p.(Ile159Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787199" "3" "50" "9" "101983839" "101983839" "subst" "0" "00006" "ALG2_000015" "g.101983839A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.99221557A>T" "" "VUS" "" "0000978320" "0" "50" "9" "101980995" "101980995" "subst" "0.00014213" "01804" "ALG2_000017" "g.101980995G>T" "" "" "" "ALG2(NM_033087.4):c.472C>A (p.(Pro158Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978321" "0" "50" "9" "101981079" "101981079" "subst" "5.80383E-5" "01804" "ALG2_000018" "g.101981079G>A" "" "" "" "ALG2(NM_033087.4):c.388C>T (p.(Arg130Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978322" "0" "50" "9" "101984001" "101984001" "subst" "9.21251E-6" "01804" "ALG2_000019" "g.101984001C>T" "" "" "" "ALG2(NM_033087.4):c.176G>A (p.(Cys59Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978323" "0" "30" "9" "101984048" "101984048" "subst" "0.0178214" "01804" "ALG2_000020" "g.101984048G>C" "" "" "" "ALG2(NM_033087.4):c.129C>G (p.(Arg43=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997402" "0" "50" "9" "101980411" "101980412" "del" "7.34328E-5" "01804" "ALG2_000021" "g.101980411_101980412del" "" "" "" "ALG2(NM_033087.3):c.1055_1056delCC (p.(Ser352fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997403" "0" "50" "9" "101980412" "101980413" "ins" "7.3491E-5" "01804" "ALG2_000022" "g.101980412_101980413insTCA" "" "" "" "ALG2(NM_033087.3):c.1054_1055insTGA (p.(Ser352delinsLeuThr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027800" "0" "30" "9" "101981091" "101981091" "subst" "0" "03779" "ALG2_000023" "g.101981091G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001037114" "0" "10" "9" "101980707" "101980707" "subst" "0.00394302" "01804" "ALG2_000011" "g.101980707A>G" "" "" "" "ALG2(NM_033087.3):c.760T>C (p.L254=), ALG2(NM_033087.4):c.760T>C (p.(Leu254=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037115" "0" "50" "9" "101980715" "101980715" "subst" "1.62431E-5" "01804" "ALG2_000024" "g.101980715C>T" "" "" "" "ALG2(NM_033087.4):c.752G>A (p.(Arg251His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053309" "0" "50" "9" "101984133" "101984133" "subst" "4.54752E-6" "01804" "ALG2_000025" "g.101984133G>A" "" "" "" "ALG2(NM_033087.4):c.44C>T (p.(Pro15Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065095" "0" "50" "9" "101984163" "101984163" "subst" "0" "01804" "ALG2_000026" "g.101984163T>G" "" "" "" "ALG2(NM_033087.4):c.14A>C (p.(Gln5Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069758" "3" "70" "9" "101983953" "101983963" "delins" "0" "00006" "ALG2_000009" "g.101983953_101983963delinsCGGGGACT" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PM4, PM3" "Germline" "" "" "0" "" "" "g.99221671_99221681delinsCGGGGACT" "SCV001934164" "likely pathogenic" "ACMG" "0001069899" "3" "70" "9" "101983953" "101983963" "delins" "0" "00006" "ALG2_000009" "g.101983953_101983963delinsCGGGGACT" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PM3, PM4" "Germline" "" "" "0" "" "" "g.99221671_99221681delinsCGGGGACT" "SCV005413895" "likely pathogenic" "ACMG" ## 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 ALG2 ## Count = 28 "{{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}}" "0000259744" "00002370" "90" "22" "0" "22" "0" "c.22del" "r.(?)" "p.(Glu8AsnfsTer40)" "" "0000332718" "00002370" "50" "-748" "0" "-748" "0" "c.-748T>G" "r.(?)" "p.(=)" "" "0000535624" "00002370" "30" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.(Ile162Val)" "" "0000535625" "00002370" "30" "346" "0" "346" "0" "c.346C>G" "r.(?)" "p.(Gln116Glu)" "" "0000535626" "00002370" "50" "260" "0" "262" "0" "c.260_262dup" "r.(?)" "p.(Ala87dup)" "" "0000535627" "00002370" "30" "137" "0" "137" "0" "c.137G>T" "r.(?)" "p.(Ser46Ile)" "" "0000535629" "00002370" "30" "30" "0" "30" "0" "c.30C>G" "r.(?)" "p.(Asp10Glu)" "" "0000597587" "00002370" "90" "214" "0" "224" "0" "c.214_224delinsAGTCCCCG" "r.(?)" "p.(Gly72_Leu75delinsSerProArg)" "" "0000611748" "00002370" "30" "760" "0" "760" "0" "c.760T>C" "r.(?)" "p.(Leu254=)" "" "0000611749" "00002370" "30" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Ile159Val)" "" "0000622101" "00002370" "30" "870" "0" "870" "0" "c.870G>C" "r.(?)" "p.(Gln290His)" "" "0000622102" "00002370" "90" "226" "0" "236" "0" "c.226_236del" "r.(?)" "p.(Pro76GlyfsTer49)" "" "0000690340" "00002370" "30" "1038" "0" "1038" "0" "c.1038G>A" "r.(?)" "p.(Ser346=)" "" "0000690341" "00002370" "30" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Ile159Val)" "" "0000787199" "00002370" "50" "338" "0" "338" "0" "c.338T>A" "r.(?)" "p.(Val113Glu)" "1" "0000978320" "00002370" "50" "472" "0" "472" "0" "c.472C>A" "r.(?)" "p.(Pro158Thr)" "" "0000978321" "00002370" "50" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Trp)" "" "0000978322" "00002370" "50" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Cys59Tyr)" "" "0000978323" "00002370" "30" "129" "0" "129" "0" "c.129C>G" "r.(?)" "p.(=)" "" "0000997402" "00002370" "50" "1055" "0" "1056" "0" "c.1055_1056del" "r.(?)" "p.(Ser352Tyrfs*2)" "" "0000997403" "00002370" "50" "1054" "0" "1055" "0" "c.1054_1055insTGA" "r.(?)" "p.(Ser352delinsLeuThr)" "" "0001027800" "00002370" "30" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Leu126=)" "" "0001037114" "00002370" "10" "760" "0" "760" "0" "c.760T>C" "r.(?)" "p.(Leu254=)" "" "0001037115" "00002370" "50" "752" "0" "752" "0" "c.752G>A" "r.(?)" "p.(Arg251His)" "" "0001053309" "00002370" "50" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Pro15Leu)" "" "0001065095" "00002370" "50" "14" "0" "14" "0" "c.14A>C" "r.(?)" "p.(Gln5Pro)" "" "0001069758" "00002370" "70" "214" "0" "224" "0" "c.214_224delinsAGTCCCCG" "r.(?)" "p.(Gly72_Leu75delinsSerProArg)" "" "0001069899" "00002370" "70" "214" "0" "224" "0" "c.214_224delinsAGTCCCCG" "r.(?)" "p.(Gly72_Leu75delinsSerProArg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000266770" "0000597587" "0000375848" "0000787199" "0000475363" "0001069758" "0000475505" "0001069899"