### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADARB1) # 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}}" "ADARB1" "adenosine deaminase, RNA-specific, B1" "21" "q22.3" "unknown" "NG_052015.1" "UD_132464423852" "" "https://www.LOVD.nl/ADARB1" "" "1" "226" "104" "601218" "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/ADARB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-07-28 16:29:22" "00000" "2025-05-05 21:14:00" ## 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}}" "00024326" "ADARB1" "transcript variant 2" "002" "NM_015833.3" "" "NP_056648.1" "" "" "" "-435" "6592" "2226" "46494493" "46646478" "00000" "2017-08-07 16:32:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05960" "NEDHYMS" "neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS)" "AR" "618862" "" "" "" "00006" "2021-07-28 16:29:00" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ADARB1" "05611" "ADARB1" "05960" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00296258" "" "" "" "1" "" "00006" "{PMID:Tan 2020:32220291}, {DOI:Tan 2020:10.1016/j.ajhg.2020.02.015}" "" "M" "no" "Australia" "" "0" "" "" "white" "Pat1" "00296259" "" "" "" "1" "" "00006" "{PMID:Tan 2020:32220291}, {DOI:Tan 2020:10.1016/j.ajhg.2020.02.015}" "" "M" "no" "United States" "24m" "0" "" "" "Hispanic" "Pat2" "00296260" "" "" "" "1" "" "00006" "{PMID:Tan 2020:32220291}, {DOI:Tan 2020:10.1016/j.ajhg.2020.02.015}" "" "M" "yes" "Israel" "" "0" "" "" "" "Pat3" "00296261" "" "" "" "1" "" "02404" "{PMID:Tan 2020:32220291}, {DOI:Tan 2020:10.1016/j.ajhg.2020.02.015}, {PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "Iran" "" "0" "" "" "Azari" "Pat4;Fam10Pat12" "00334755" "" "" "" "8" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00334756" "" "" "" "9" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00380411" "" "" "" "3" "" "00006" "{PMID:Maroofian 2021:32719099}" "4-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Iraq" "" "0" "" "" "" "Fam1" "00380412" "" "" "" "2" "" "00006" "{PMID:Maroofian 2021:32719099}" "3-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00296258" "00198" "00296259" "00198" "00296260" "00198" "00296261" "00198" "00334755" "04214" "00334756" "04214" "00380411" "05611" "00380412" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04214, 05611, 05960 ## Count = 6 "{{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}}" "0000223725" "00198" "00296258" "00006" "Familial, autosomal recessive" "5y9m" "no prenatal structural anomalies; concern about CMV infection in first trimester, no CMV detected by PCR of amniotic fluid, neonatal blood and urine, neonatal jaundice treated with 3 days of phototherapy; birth 40w gestation, length 51 cm (+0.5 SD), weight 3430 g (+0.17 SD), head circumference 30.5 cm (−2.2 SD); length 100 cm (−1.3 SD), weight 15.5 kg (−0.8 SD), head circumference 46 cm (−3.6 SD); motor delay; stand with assistance; first words-12m, 2 words; severe intellectual disability; epilepsy, global developmental delay, intermittent tremor in leg; MRI 6m-thin corpus callosum, incomplete myelination; CT 16m-no calcification, no sutural synostosis; EEG slow and less well-modulated background for age, no epileptiform activity; two generalized tonic-clonic seizures; no behavioral problems; frequent waking during night, early morning waking; round face with metopic ridging, brachycephaly, upslanting palpebral fissures, normal corneal reflexes, thin upper lip; normal hearing; exotropia, normal vision; no abnormality heart; laryngomalacia; PEG feeds; no abnormality urogenital system; high anterior hairline, sparse scalp hair; no chillblains; no abnormality musculoskeletal system; no abnormality endocrine system; no abnormality immunological system" "" "" "" "" "" "" "" "" "" "microcephaly, intellectual disability, epilepsy" "" "0000223726" "00198" "00296259" "00006" "Familial, autosomal recessive" "24m" "deceased; no prenatal structural anomalies; c-section due to pre-eclampsia, no other complications with pregnancy or delivery, 7w in NICU, not intubated, had anemia requiring blood transfusion and had apnea requiring caffeine; birth 31w gestation, length unknown, weight 1701 g; length 81 cm (−2 SD), weight 10.95 kg (−0.9 SD), head circumference 43.5 cm (−4.0 SD); motor delay; unable to roll over or support head; nonverbal; profound intellectual disability; epilepsy, global developmental delay, diffuse hypotonia, symmetric antigravity movements of limbs; MRI 22m-microcephaly, diffuse supratentorial volume loss, white matter gliosis, delayed myelination; EEG multifocal epileptiform discharges; migrating focal seizures; no behavioral problems; no sleep disturbance; non-dysmorphic with plagiocephaly; normal hearing; cortical blindness; no abnormality heart; grade 1 subglottic stenosis; PEG feeds; no abnormality urogenital system; no abnormality skin/hair/nails; no abnormality musculoskeletal system; no abnormality endocrine system; no abnormality immunological system" "" "" "" "" "" "" "" "" "" "microcephaly, intellectual disability, epilepsy" "" "0000223727" "00198" "00296260" "00006" "Familial, autosomal recessive" "2y" "prenatal elevated nuchal translucency (3.8 mm) microcephaly and polyhydramnios (AFI-27 CM); during pregnancy elevated Nuchal translucency (3.8 mm) microcephaly and polyhydramnios (AFI-27 CM); birth 40w gestation, length unknown, weight 3500 g, head circumference 36.5 cm (+0.38 SD); length 76 cm (−3.6 SD), weight unknown, head circumference 43 cm (−4.4 SD); motor delay; nonverbal; severe intellectual disability; epilepsy, global developmental delay, hypertonia with significant spasticity; MRI 23m-thin corpus callosum; EEG focal epileptiform discharges in the left temporal and occipital regions; intractable generalized seizures; no behavioral problems; no sleep disturbance; oval face with plagiocephaly and high arched palate; normal hearing; cortical blindness; no abnormality heart; no abnormality respiratory system; feeding difficulties; left cryptorchidism; single café au lait spot on back; no abnormality musculoskeletal system; no abnormality endocrine system; no abnormality immunological system" "" "" "" "" "" "" "" "" "" "microcephaly, intellectual disability, epilepsy" "" "0000223728" "00198" "00296261" "00006" "Familial, autosomal recessive" "11y" "no prenatal structural anomalies; no complications during pregnancy or delivery; birth 38w gestation, length 50 cm (−4.3 SD), weight 3600 g (+0.51 SD), head circumference in normal range; length 114 cm (−4.3 SD), weight 20 kg (−4.1 SD), head circumference 49 cm (−3.3 SD); motor delay; nonverbal; profound intellectual disability; epilepsy, global developmental delay, axial hypotonia with appendicular hypertonia and distal contractures, muscle atrophy, repetitive movements of right hand and neck; MRI 3y-brain atrophy in temporal lobes; EEG focal and generalized epileptiform discharges; 7y-intractable generalized seizures with increased frequency from once a month to once every 15d; no behavioral problems; no sleep disturbance; non-dysmorphic face; normal hearing; cortical blindness; no abnormality heart; no abnormality respiratory system; feeding difficulties; no abnormality urogenital system; no abnormality skin/hair/nails; no abnormality musculoskeletal system; no abnormality endocrine system; no abnormality immunological system" "" "" "" "" "" "" "" "" "" "microcephaly, intellectual disability, epilepsy" "" "0000274261" "05611" "00380411" "00006" "Familial, autosomal recessive" "" "see paper; ..., global developmental delay, intractable early infantile-onset seizures, microcephaly, severe-to-profound intellectual disability, axial hypotonia, progressive appendicular spasticity" "" "" "" "" "" "" "" "" "" "encephalopathy" "" "0000274262" "05611" "00380412" "00006" "Familial, autosomal recessive" "" "see paper; ..., global developmental delay, intractable early infantile-onset seizures, microcephaly, severe-to-profound intellectual disability, axial hypotonia, progressive appendicular spasticity" "" "" "" "" "" "" "" "" "" "encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000297429" "00296258" "1" "00006" "00006" "2020-04-04 10:15:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000297430" "00296259" "1" "00006" "00006" "2020-04-04 10:15:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297431" "00296260" "1" "00006" "00006" "2020-04-04 10:15:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000297432" "00296261" "1" "00006" "00006" "2020-04-04 10:15:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000335984" "00334755" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000335985" "00334756" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000381625" "00380411" "1" "00006" "00006" "2021-08-16 13:53:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381626" "00380412" "1" "00006" "00006" "2021-08-16 13:56:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000297429" "ADARB1" "0000297430" "ADARB1" "0000297431" "ADARB1" "0000297432" "ADARB1" ## 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 = 18 "{{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}}" "0000660057" "21" "70" "21" "46604484" "46604484" "subst" "0.000416049" "00006" "ADARB1_000004" "g.46604484A>G" "" "{PMID:Tan 2020:32220291}, {DOI:Tan 2020:10.1016/j.ajhg.2020.02.015}" "" "" "" "Germline" "" "rs544025652" "0" "" "" "g.45184569A>G" "" "likely pathogenic (recessive)" "" "0000660058" "3" "90" "21" "46595995" "46595995" "subst" "0" "00006" "ADARB1_000002" "g.46595995A>G" "" "{PMID:Tan 2020:32220291}, {DOI:Tan 2020:10.1016/j.ajhg.2020.02.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45176080A>G" "" "pathogenic (recessive)" "" "0000660059" "3" "90" "21" "46624592" "46624592" "subst" "4.06138E-6" "00006" "ADARB1_000005" "g.46624592G>A" "" "{PMID:Tan 2020:32220291}, {DOI:Tan 2020:10.1016/j.ajhg.2020.02.015}" "" "" "" "Germline" "" "rs1364071684" "0" "" "" "g.45204677G>A" "" "pathogenic (recessive)" "" "0000660060" "3" "90" "21" "46642051" "46642051" "subst" "0" "00006" "ADARB1_000006" "g.46642051C>T" "" "{PMID:Tan 2020:32220291}, {DOI:Tan 2020:10.1016/j.ajhg.2020.02.015}" "" "" "" "Germline" "" "rs1323703791" "0" "" "" "g.45222136C>T" "" "pathogenic (recessive)" "" "0000660061" "11" "70" "21" "46602522" "46602522" "subst" "4.33843E-6" "00006" "ADARB1_000003" "g.46602522G>C" "" "{PMID:Tan 2020:32220291}, {DOI:Tan 2020:10.1016/j.ajhg.2020.02.015}" "" "" "" "Germline" "" "rs778818769" "0" "" "" "g.45182607G>C" "" "likely pathogenic (recessive)" "" "0000734896" "0" "30" "21" "46644411" "46644411" "subst" "0" "00000" "ADARB1_000007" "g.46644411T>C" "8/25 families" "{PMID:Maranhao 2015:26352687}" "" "ADARB1:c.2137-1051T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000734897" "0" "30" "21" "46644496" "46644496" "subst" "0" "00000" "ADARB1_000008" "g.46644496A>G" "9/25 families" "{PMID:Maranhao 2015:26352687}" "" "ADARB1:c.2137-966A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000795115" "3" "70" "21" "46640772" "46640772" "subst" "0" "00006" "ADARB1_000009" "g.46640772G>A" "" "{PMID:Maroofian 2021:32719099}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45220857G>A" "" "likely pathogenic (recessive)" "" "0000795116" "3" "70" "21" "46602666" "46602669" "del" "0" "00006" "ADARB1_000010" "g.46602666_46602669del" "" "{PMID:Maroofian 2021:32719099}" "" "" "effect on splicing predict from in vitro mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.45182751_45182754del" "" "likely pathogenic (recessive)" "" "0000895521" "0" "70" "21" "46602551" "46602551" "subst" "4.13117E-6" "02327" "ADARB1_000011" "g.46602551G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043628" "0" "30" "21" "46572585" "46572585" "subst" "1.5805E-5" "01804" "ADARB1_000012" "g.46572585G>C" "" "" "" "ADARB1(NM_001346687.2):c.62G>C (p.(Arg21Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043629" "0" "30" "21" "46595764" "46595764" "subst" "4.07614E-6" "01804" "ADARB1_000013" "g.46595764G>A" "" "" "" "ADARB1(NM_001112.4):c.148G>A (p.(Gly50Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043630" "0" "30" "21" "46600318" "46600318" "subst" "0" "01804" "ADARB1_000014" "g.46600318A>T" "" "" "" "ADARB1(NM_001112.4):c.1037A>T (p.(His346Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043631" "0" "50" "21" "46604883" "46604883" "subst" "0" "01804" "ADARB1_000015" "g.46604883G>A" "" "" "" "ADARB1(NM_001112.4):c.1442G>A (p.(Arg481Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043632" "0" "30" "21" "46640748" "46640748" "subst" "1.62937E-5" "01804" "ADARB1_000016" "g.46640748C>T" "" "" "" "ADARB1(NM_001112.4):c.1748-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043633" "0" "30" "21" "46640939" "46640939" "subst" "0" "01804" "ADARB1_000017" "g.46640939C>T" "" "" "" "ADARB1(NM_001112.4):c.1926+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043634" "0" "50" "21" "46641951" "46641951" "subst" "0" "01804" "ADARB1_000018" "g.46641951C>T" "" "" "" "ADARB1(NM_001112.4):c.1945C>T (p.(Arg649Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043635" "0" "50" "21" "46642052" "46642052" "subst" "0.000212399" "01804" "ADARB1_000019" "g.46642052G>A" "" "" "" "ADARB1(NM_001112.4):c.2046G>A (p.(Ala682=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 ADARB1 ## Count = 18 "{{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}}" "0000660057" "00024326" "70" "1492" "0" "1492" "0" "c.1492A>G" "r.(?)" "p.(Thr498Ala)" "" "0000660058" "00024326" "90" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Lys127Glu)" "" "0000660059" "00024326" "90" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Arg603Gln)" "" "0000660060" "00024326" "90" "2165" "0" "2165" "0" "c.2165C>T" "r.(?)" "p.(Ala722Val)" "" "0000660061" "00024326" "70" "1101" "0" "1101" "0" "c.1101G>C" "r.(?)" "p.(Lys367Asn)" "" "0000734896" "00024326" "30" "4525" "0" "4525" "0" "c.*2299T>C" "r.(=)" "p.(=)" "" "0000734897" "00024326" "30" "4610" "0" "4610" "0" "c.*2384A>G" "r.(=)" "p.(=)" "" "0000795115" "00024326" "70" "1889" "0" "1889" "0" "c.1889G>A" "r.(?)" "p.(Arg630Gln)" "" "0000795116" "00024326" "70" "1245" "0" "1247" "1" "c.1245_1247+1del" "r.[(1079_1247del,?,?)]" "p.?" "6i" "0000895521" "00024326" "70" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Cys377Tyr)" "" "0001043628" "00024326" "30" "-47" "-18940" "-47" "-18940" "c.-47-18940G>C" "r.(=)" "p.(=)" "" "0001043629" "00024326" "30" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Gly50Ser)" "" "0001043630" "00024326" "30" "1037" "0" "1037" "0" "c.1037A>T" "r.(?)" "p.(His346Leu)" "" "0001043631" "00024326" "50" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521Gln)" "" "0001043632" "00024326" "30" "1868" "-3" "1868" "-3" "c.1868-3C>T" "r.spl?" "p.?" "" "0001043633" "00024326" "30" "2046" "10" "2046" "10" "c.2046+10C>T" "r.(=)" "p.(=)" "" "0001043634" "00024326" "50" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Arg689Cys)" "" "0001043635" "00024326" "50" "2166" "0" "2166" "0" "c.2166G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000297429" "0000660057" "0000297429" "0000660061" "0000297430" "0000660058" "0000297431" "0000660059" "0000297432" "0000660060" "0000335984" "0000734896" "0000335985" "0000734897" "0000381625" "0000795115" "0000381626" "0000795116"