### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MDGA2) # 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}}" "MDGA2" "MAM domain containing glycosylphosphatidylinositol anchor 2" "14" "q21.2" "unknown" "NC_000014.8" "UD_132319777679" "" "https://www.LOVD.nl/MDGA2" "" "1" "19835" "161357" "611128" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2026-02-08 15:20:13" "00006" "2026-02-09 14:23:47" ## 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}}" "00025576" "MDGA2" "transcript variant 1" "001" "NM_001113498.2" "" "NP_001106970.3" "" "" "" "-365" "5179" "2871" "48144157" "47308826" "00006" "2020-11-05 19:29:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MDGA2" "06906" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00318021" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "Punjabi" "PKMR72" "00472382" "" "" "" "2" "" "00006" "{PMID:Morsy 2026:41570816}" "4-generation family, 2 affected brothers, unaffected carrier parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam1Pat1(IV1)" "00472383" "" "" "" "3" "" "00006" "{PMID:Morsy 2026:41570816}" "4-generation family, 3 affected (sister/2 brothers), unaffected carrier parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam2Pat2(IV7)" "00472384" "" "" "" "2" "" "00006" "{PMID:Morsy 2026:41570816}" "5-generation family, affected sister/brothers, unaffected carrier parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam3Pat3A(V1)" "00472385" "" "" "00472384" "1" "" "00006" "{PMID:Morsy 2026:41570816}" "brother" "M" "yes" "Egypt" "" "0" "" "" "" "Fam3Pat3B(V2)" "00472386" "" "" "" "1" "" "00006" "{PMID:Morsy 2026:41570816}" "4-generation family, 2 affected brothers, unaffected carrier parents" "M" "yes" "" "1y6m" "0" "" "" "Asia-E" "Fam4Pat4(IV2)" "00472387" "" "" "" "2" "" "00006" "{PMID:Morsy 2026:41570816}" "4-generation family, 6 affected, (5F, M) unaffected carrier parents" "F" "yes" "Saudi Arabia" "4y6m" "0" "" "" "" "Fam5Pat5A(IV4)" "00472388" "" "" "00472387" "1" "" "00006" "{PMID:Morsy 2026:41570816}" "sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam5Pat5B(IV5)" "00472389" "" "" "" "1" "" "00006" "{PMID:Morsy 2026:41570816}" "4-generation family, 1 affected, unaffected carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam6Pat6(IV1)" "00472390" "" "" "" "1" "" "00006" "{PMID:Morsy 2026:41570816}" "4-generation family, 1 affected, unaffected carrier parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam7Pat7" "00472391" "" "" "" "2" "" "00006" "{PMID:Morsy 2026:41570816}" "4-generation family, 2 affected sisters" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "FamM1(IV4)" "00472392" "" "" "" "1" "" "00006" "{PMID:Morsy 2026:41570816}" "4-generation family, 1 affected, unaffected carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "FamM2(IV2)" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00318021" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 01157, 06906 ## Count = 14 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000241805" "00139" "00318021" "00006" "Familial, autosomal recessive" "" "Non syndromic." "" "" "" "" "" "" "" "" "intellectual disability" "0000357185" "06906" "00472382" "00006" "Familial, autosomal recessive" "6m" "see paper; ..., hypotonia (infancy); severe global developmental delay; 3m-psychomotor regression; progressive disease; sleep problems; generalized tonic-clonic seizures, 3m-focal, myoclonic; brisk deep-tendon reflexes; normal muscle tone; no muscle weakness; abnormal movement; dysmorphic features; 6m-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000357186" "06906" "00472383" "00006" "Familial, autosomal recessive" "16m" "see paper; ..., hypotonia (infancy); severe global developmental delay; no psychomotor regression, since early life; progressive disease; sleep problems; generalized tonic-clonic seizures, 50d-atonic seizures; brisk deep-tendon reflexes; normal muscle tone; muscle weakness; abnormal movement; dysmorphic features; 4m-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000357187" "06906" "00472384" "00006" "Familial, autosomal recessive" "6y4m" "see paper; ..., hypotonia (infancy); severe global developmental delay; 5m-psychomotor regression; progressive disease; sleep problems; 5m-focal with secondary generalization tonic-clonic seizures; brisk deep-tendon reflexes; hypotonia; muscle weakness; abnormal movement; dysmorphic features; 6m-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000357188" "06906" "00472385" "00006" "Familial, autosomal recessive" "5y2m" "see paper; ..., hypotonia (infancy); severe global developmental delay; 3m-psychomotor regression; progressive disease; no sleep problems; 2m-focal with secondary generalization tonic-clonic seizures; brisk deep-tendon reflexes; hypotonia; muscle weakness; no abnormal movement; dysmorphic features; 2y-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000357189" "06906" "00472386" "00006" "Familial, autosomal recessive" "2y6m" "see paper; ..., 2y6m-deceased; hypotonia (infancy); severe global developmental delay; 3m-psychomotor regression; progressive disease; sleep problems; 2m-focal with secondary generalization tonic-clonic seizures; elicited deep-tendon reflexes; normal muscle tone; no muscle weakness; abnormal movement; dysmorphic features; 1y-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000357190" "06906" "00472387" "00006" "Familial, autosomal recessive" "4y6m" "see paper; ..., 4y6m-deceased; hypotonia (infancy); severe global developmental delay; no psychomotor regression, since early life; progressive disease; sleep problems; 1m-myoclonic, tonic, clonic, focal generalized tonic-clonic seizures; brisk deep-tendon reflexes; hypotonia; muscle weakness; no abnormal movement; dysmorphic features;" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000357191" "06906" "00472388" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., hypotonia (infancy); severe global developmental delay; no psychomotor regression, since early life; progressive disease; sleep problems; 2m-epileptic spasm, tonic seizures; dysmorphic features; 3y-MRI brain brain atrophy, dno elayed myelination, small asal ganglia/hippocampi" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000357192" "06906" "00472389" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000357193" "06906" "00472390" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., hypotonia (infancy); severe global developmental delay; no psychomotor regression, since early life; progressive disease; no sleep problems; 9m-seizures; elicited deep-tendon reflexes; hypotonia; muscle weakness; no abnormal movement; dysmorphic features; 1y-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000357194" "06906" "00472391" "00006" "Familial, autosomal recessive" "" "see paper; ..., 5y9m-delayed motor milestones, hypotonia (infancy), 18m-sit, 3y- wakl; profound speech delay, no expressive language, cannot perform activities daily living; no regression; 8m-GTC seizures, no tatus epilepticus; generalized hypotonia, preserved reflexes, no weakness, no spasticity, no dystonia, no ataxia; gait broad-based, frequent falls; no cranial nerve abnormalities, no sensory deficits, no dysmorphic features; 4y-MRI brain faint white matter signal alterations, incomplete myelination, non-specific bilateral thalamic signal abnormalities" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000357195" "06906" "00472392" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild motor delay, 5m-sit, 12m-walki; speech delay, only single spoken word, onverbal communication; independent ambulation; seizures; preserved reflexes, normal tone, no weakness, no spasticity, no dystonia, normal movements: 9m-MRI brain cerebral atrophy, reduced white matter volume, ventricular enlargement; patent foramen ovale, recurrent respiratory infections, laryngomalacia" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000319203" "00318021" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474051" "00472382" "1" "00006" "00006" "2026-02-09 14:23:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474052" "00472383" "1" "00006" "00006" "2026-02-09 14:23:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474053" "00472384" "1" "00006" "00006" "2026-02-09 14:23:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474054" "00472385" "1" "00006" "00006" "2026-02-09 14:23:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474055" "00472386" "1" "00006" "00006" "2026-02-09 14:23:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474056" "00472387" "1" "00006" "00006" "2026-02-09 14:23:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474057" "00472388" "1" "00006" "00006" "2026-02-09 14:23:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474058" "00472389" "1" "00006" "00006" "2026-02-09 14:23:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474059" "00472390" "1" "00006" "00006" "2026-02-09 14:23:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474060" "00472391" "1" "00006" "00006" "2026-02-09 14:23:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474061" "00472392" "1" "00006" "00006" "2026-02-09 14:23:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000319203" "MDGA2" ## 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 = 17 "{{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}}" "0000002600" "3" "50" "14" "47526804" "47526805" "dup" "0" "00037" "MDGA2_000002" "g.47526804_47526805dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47057601_47057602dup" "" "VUS" "" "0000005362" "0" "50" "14" "47526847" "47526847" "subst" "0" "00037" "MDGA2_000001" "g.47526847T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47057644T>C" "" "VUS" "" "0000010608" "0" "50" "14" "47526804" "47526805" "dup" "0" "00037" "MDGA2_000002" "g.47526804_47526805dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47057601_47057602dup" "" "VUS" "" "0000701867" "3" "50" "14" "47343402" "47343402" "subst" "3.63086E-5" "00006" "MDGA2_000004" "g.47343402T>C" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.46874199T>C" "" "VUS" "" "0001001010" "0" "50" "14" "47311154" "47311154" "subst" "0" "01804" "MDGA2_000005" "g.47311154T>G" "" "" "" "MDGA2(NM_001113498.2):c.2851A>C (p.(Ile951Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001011" "0" "50" "14" "47566150" "47566150" "subst" "0" "01804" "MDGA2_000006" "g.47566150C>A" "" "" "" "MDGA2(NM_001113498.2):c.895G>T (p.(Ala299Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001068161" "3" "90" "14" "47342649" "47342649" "subst" "0" "00006" "chr14_005806" "g.47342649A>C" "" "{PMID:Morsy 2026:41570816}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46873446A>C" "" "pathogenic (recessive)" "" "0001068162" "3" "90" "14" "47687129" "47687498" "del" "0" "00006" "chr14_005807" "g.47687129_47687498del" "" "{PMID:Morsy 2026:41570816}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47217926_47218295del" "" "pathogenic (recessive)" "" "0001068163" "3" "90" "14" "47687399" "47687399" "subst" "0" "00006" "chr14_005808" "g.47687399C>T" "" "{PMID:Morsy 2026:41570816}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47218196C>T" "" "pathogenic (recessive)" "" "0001068164" "3" "90" "14" "47687399" "47687399" "subst" "0" "00006" "chr14_005808" "g.47687399C>T" "" "{PMID:Morsy 2026:41570816}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47218196C>T" "" "pathogenic (recessive)" "" "0001068165" "3" "90" "14" "47530767" "47530767" "subst" "0" "00006" "chr14_005809" "g.47530767G>A" "" "{PMID:Morsy 2026:41570816}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47061564G>A" "" "pathogenic (recessive)" "" "0001068166" "3" "90" "14" "47324351" "47324351" "subst" "0" "00006" "chr14_005810" "g.47324351A>C" "" "{PMID:Morsy 2026:41570816}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46855148A>C" "" "pathogenic (recessive)" "" "0001068167" "3" "90" "14" "47324351" "47324351" "subst" "0" "00006" "chr14_005810" "g.47324351A>C" "" "{PMID:Morsy 2026:41570816}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46855148A>C" "" "pathogenic (recessive)" "" "0001068168" "3" "90" "14" "47566085" "47566085" "del" "0" "00006" "chr14_005811" "g.47566085del" "" "{PMID:Morsy 2026:41570816}" "" "" "" "Germline" "" "" "0" "" "" "g.47096882del" "" "pathogenic (recessive)" "" "0001068169" "3" "90" "14" "47566085" "47566085" "dup" "0" "00006" "chr14_005812" "g.47566085dup" "" "{PMID:Morsy 2026:41570816}" "" "" "" "Germline" "" "" "0" "" "" "g.47096882dup" "" "pathogenic (recessive)" "" "0001068170" "3" "90" "14" "47343330" "47343330" "subst" "0" "00006" "chr14_005813" "g.47343330C>G" "" "{PMID:Morsy 2026:41570816}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46874127C>G" "" "pathogenic (recessive)" "" "0001068171" "3" "70" "14" "47389228" "47389228" "subst" "0" "00006" "chr14_005814" "g.47389228A>G" "" "{PMID:Morsy 2026:41570816}" "" "" "" "Germline" "" "" "0" "" "" "g.46920025A>G" "" "likely pathogenic (recessive)" "" ## 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 MDGA2 ## Count = 17 "{{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}}" "0000002600" "00025576" "50" "1318" "3647" "1318" "3648" "c.1318+3647_1318+3648dup" "r.(=)" "p.(=)" "" "0000005362" "00025576" "50" "1318" "3605" "1318" "3605" "c.1318+3605A>G" "r.(=)" "p.(=)" "" "0000010608" "00025576" "50" "1318" "3647" "1318" "3648" "c.1318+3647_1318+3648dup" "r.(=)" "p.(=)" "" "0000701867" "00025576" "50" "2232" "0" "2232" "0" "c.2232A>G" "r.(=)" "p.(=)" "" "0001001010" "00025576" "50" "2851" "0" "2851" "0" "c.2851A>C" "r.(?)" "p.(Ile951Leu)" "" "0001001011" "00025576" "50" "895" "0" "895" "0" "c.895G>T" "r.(?)" "p.(Ala299Ser)" "" "0001068161" "00025576" "90" "2739" "0" "2739" "0" "c.2739T>G" "r.(?)" "p.(Tyr913Ter)" "" "0001068162" "00025576" "90" "421" "-96" "595" "99" "c.421-96_595+99del" "r.(421_595del)" "p.?" "2i_3i" "0001068163" "00025576" "90" "421" "-1" "421" "-1" "c.421-1G>A" "r.spl" "p.?" "" "0001068164" "00025576" "90" "421" "-1" "421" "-1" "c.421-1G>A" "r.spl" "p.?" "" "0001068165" "00025576" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Ter)" "" "0001068166" "00025576" "90" "2759" "0" "2759" "0" "c.2759T>G" "r.(?)" "p.(Leu920Ter)" "" "0001068167" "00025576" "90" "2759" "0" "2759" "0" "c.2759T>G" "r.(?)" "p.(Leu920Ter)" "" "0001068168" "00025576" "90" "1172" "0" "1172" "0" "c.1172del" "r.(?)" "p.(Lys391SerfsTer7)" "" "0001068169" "00025576" "90" "1172" "0" "1172" "0" "c.1172dup" "r.(?)" "p.(Ser392ValfsTer25)" "" "0001068170" "00025576" "90" "2511" "0" "2511" "0" "c.2511G>C" "r.(?)" "p.(Trp837Cys)" "" "0001068171" "00025576" "70" "2225" "0" "2225" "0" "c.2225T>C" "r.(?)" "p.(Leu742Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002600" "0000000209" "0000005362" "0000000210" "0000010608" "0000319203" "0000701867" "0000474051" "0001068161" "0000474052" "0001068162" "0000474053" "0001068163" "0000474054" "0001068164" "0000474055" "0001068165" "0000474056" "0001068166" "0000474057" "0001068167" "0000474058" "0001068168" "0000474059" "0001068169" "0000474060" "0001068170" "0000474061" "0001068171"