### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HAAO) # 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}}" "HAAO" "3-hydroxyanthranilate 3,4-dioxygenase" "2" "p" "unknown" "NC_000002.11" "UD_132439501693" "" "https://www.LOVD.nl/HAAO" "" "1" "4796" "23498" "604521" "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/HAAO_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-12-02 09:10:51" "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}}" "00000845" "HAAO" "3-hydroxyanthranilate 3,4-dioxygenase" "001" "NM_012205.2" "" "NP_036337.2" "" "" "" "-75" "1209" "861" "42994229" "43019751" "00000" "2012-09-13 12:55:14" "" "" ## 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" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05680" "VCRL" "vertebral, cardiac, renal, and limb defects syndrome (VCRL)" "XLR" "" "" "" "" "00006" "2020-01-06 15:52:43" "00006" "2021-12-10 21:51:32" "05681" "VCRL1" "vertebral, cardiac, renal, and limb defects syndrome, type 1 (VCRL1)" "AR" "617660" "" "" "" "00006" "2020-01-06 15:54:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HAAO" "05680" "HAAO" "05681" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00275555" "" "" "" "1" "" "00006" "{PMID:Shi 2017:28792876}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Iraq" "FamA" "00275556" "" "" "" "1" "" "00006" "{PMID:Shi 2017:28792876}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Lebanon" "FamB" "00424056" "" "" "" "1" "" "00006" "{PMID:Hijazi 2022:36368327}" "" "M" "no" "France" "" "0" "" "" "white;Europe" "Pat3" "00436125" "" "" "" "1" "" "00006" "{PMID:Szot 2021:33942433}" "2-generation family, 2 affected fetuses, unaffected heterozygous parents" "" "" "" "" "0" "" "" "" "Fam3" "00436126" "" "" "" "1" "" "00006" "{PMID:Szot 2021:33942433}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "" "" "0" "" "" "" "Fam2" "00436127" "" "" "" "1" "" "00006" "{PMID:Szot 2021:33942433}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Fam1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00275555" "00198" "00275556" "00198" "00424056" "05611" "00436125" "00198" "00436126" "00198" "00436127" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 05611, 05680, 05681 ## Count = 7 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000210171" "00198" "00275555" "00006" "Familial, autosomal recessive" "" "vertebral segmentation defects; atrial septal defect; renal hypoplasia, vesicoureteral reflux; limb defects talipes; sensorineural hearing loss, Mondini defect; short stature, global developmental delay, intellectual disability, laryngeal web, laryngomalacia" "" "" "" "" "" "" "" "" "VCRL1" "multiple congenital malformations" "" "0000210172" "00198" "00275556" "00006" "Familial, autosomal recessive" "" "vertebral segmentation defects; hypoplastic left heart; renal hypoplasia, dysplasia; no limb defects; sensorineural hearing loss on left side; palsy of left vocal cord" "" "" "" "" "" "" "" "" "VCRL1" "multiple congenital malformations" "" "0000315264" "05611" "00424056" "00006" "Isolated (sporadic)" "17y" "no prenatal complications; birth at term; no postnatal complications; developmental delay (HP:0012758)/severe intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); no seizures (-HP:0001250); non-verbal; hypotonia (HP:0001319); gait disturbance (HP:0001288), ataxic with support; behavioral abnormalities (HP:0000708); autism/autistic-like behavior (HP:0000717); astigmatism (HP:0000483), other dysmorphic features; no nystagmus (-HP:0000639); strabismus (HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), deep-set eyes, very bright blue eyes; gastrointestinal abnormality (HP:0011024), chewing difficulty, constipation; abnormality of the immune system (HP:0002715), recurrent ear infections; growth retardation (onset 5 y/o), no puberty onset, hyperlaxity" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000326309" "00198" "00436125" "00006" "Familial, autosomal recessive" "" "see paper; ..., L5 hemivertebra, scoliosis; hypoplastic left heart; absent left kidney, multicystic right kidney; abnormal hand (right hand 4-5 syndactyly, abnormal orientation of the hand, flexion contracture of the 3rd digit); small bladder" "" "" "" "" "" "" "" "" "" "" "" "0000326310" "00198" "00436126" "00006" "Familial, autosomal recessive" "" "see paper; ..., Shone syndrome with aortic coarctation; normal limbs; no renal anomalies; progressive intrauterine growth retardation" "" "" "" "" "" "" "" "" "" "" "" "0000326311" "00198" "00436127" "00006" "Familial, autosomal recessive" "" "see paper; ..., L2 hemivertebra; sacral vertebral anomalies; 11 pairs of ribs; Tetralogy of Fallot with complete atrioventricular canal and pulmonary stenosis; persistent LSVC and left pulmonary artery arising from the ductus arteriosus; clinodactyly of digits 2 and 5 with short middle phalanges on the right hand, clinodactyly of the 5th digit on the left hand, overlapping 1st and 2nd toes; mild facial dysmorphism (bitemporal narrowing, epicanthic folds and a flat nasal bridge, absent tragi of the ears)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000276714" "00275555" "1" "00006" "00006" "2020-01-08 16:55:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276715" "00275556" "1" "00006" "00006" "2020-01-08 16:55:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000425367" "00424056" "1" "00006" "00006" "2022-11-16 15:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000437606" "00436125" "1" "00006" "00006" "2023-08-11 14:32:39" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000437607" "00436126" "1" "00006" "00006" "2023-08-11 14:38:20" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000437608" "00436127" "1" "00006" "00006" "2023-08-11 14:41:28" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000276714" "HAAO" "0000276715" "HAAO" ## 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 = 26 "{{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}}" "0000010332" "3" "50" "2" "43017668" "43017668" "del" "0" "00037" "HAAO_000004" "g.43017668del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.42790528del" "" "VUS" "" "0000011618" "3" "50" "2" "43017416" "43017416" "subst" "0" "00037" "HAAO_000001" "g.43017416T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.42790276T>C" "" "VUS" "" "0000011619" "3" "50" "2" "43017502" "43017502" "subst" "0" "00037" "HAAO_000002" "g.43017502A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.42790362A>G" "" "VUS" "" "0000011620" "3" "50" "2" "43017520" "43017520" "subst" "0" "00037" "HAAO_000003" "g.43017520A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.42790380A>G" "" "VUS" "" "0000515820" "0" "30" "2" "42990225" "42990225" "subst" "0.00372761" "01804" "HAAO_000005" "g.42990225C>G" "" "" "" "OXER1(NM_148962.4):c.1095G>C (p.(Gln365His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42763085C>G" "" "likely benign" "" "0000515821" "0" "30" "2" "42990388" "42990388" "subst" "0" "01943" "HAAO_000006" "g.42990388C>G" "" "" "" "OXER1(NM_148962.4):c.932G>C (p.S311T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42763248C>G" "" "likely benign" "" "0000515822" "0" "30" "2" "42990722" "42990722" "subst" "6.50533E-5" "01804" "HAAO_000007" "g.42990722C>T" "" "" "" "OXER1(NM_148962.4):c.598G>A (p.(Val200Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42763582C>T" "" "likely benign" "" "0000607935" "0" "50" "2" "42997667" "42997667" "subst" "0" "02325" "HAAO_000008" "g.42997667C>T" "" "" "" "HAAO(NM_012205.3):c.406G>A (p.D136N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42770527C>T" "" "VUS" "" "0000630843" "3" "90" "2" "42997284" "42997284" "dup" "0" "00006" "HAAO_000009" "g.42997284dup" "" "{PMID:Shi 2017:28792876}" "" "483dupT" "" "Germline" "yes" "" "0" "" "" "g.42770144dup" "" "pathogenic (recessive)" "" "0000630844" "3" "90" "2" "42996925" "42996925" "subst" "4.06686E-6" "00006" "HAAO_000010" "g.42996925C>T" "" "{PMID:Shi 2017:28792876}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42769785C>T" "" "pathogenic (recessive)" "" "0000718780" "0" "30" "2" "42995018" "42995018" "subst" "0.00152746" "02326" "HAAO_000011" "g.42995018G>A" "" "" "" "HAAO(NM_012205.3):c.681C>T (p.(Asp227=), p.D227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800605" "0" "50" "2" "42994814" "42994814" "subst" "0.00383857" "02325" "HAAO_000012" "g.42994814C>G" "" "" "" "HAAO(NM_012205.3):c.703G>C (p.G235R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000849882" "0" "10" "2" "43010449" "43010449" "subst" "0.000671203" "02326" "HAAO_000013" "g.43010449T>G" "" "" "" "HAAO(NM_012205.3):c.350+5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000902098" "0" "70" "2" "42995014" "42995014" "subst" "0" "00006" "HAAO_000014" "g.42995014A>G" "" "{PMID:Hijazi 2022:36368327}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000932917" "21" "90" "2" "43010503" "43010503" "subst" "0" "00006" "HAAO_000015" "g.43010503C>A" "" "{PMID:Szot 2021:33942433}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42783363C>A" "" "pathogenic (recessive)" "" "0000932918" "11" "90" "2" "43010481" "43010481" "subst" "0" "00006" "HAAO_000016" "g.43010481C>T" "" "{PMID:Szot 2021:33942433}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42783341C>T" "" "pathogenic (recessive)" "" "0000932919" "3" "90" "2" "43019635" "43019635" "del" "0" "00006" "HAAO_000017" "g.43019635del" "" "{PMID:Szot 2021:33942433}" "" "" "" "Germline" "" "" "0" "" "" "g.42792495del" "" "pathogenic (recessive)" "" "0000932920" "21" "90" "2" "43015700" "43015700" "subst" "0" "00006" "HAAO_000018" "g.43015700C>T" "" "{PMID:Szot 2021:33942433}" "" "" "" "Germline" "" "" "0" "" "" "g.42788560C>T" "" "pathogenic (recessive)" "" "0000932921" "11" "90" "2" "43015687" "43015687" "subst" "0" "00006" "HAAO_000019" "g.43015687G>T" "" "{PMID:Szot 2021:33942433}" "" "" "" "Germline" "" "" "0" "" "" "g.42788547G>T" "" "pathogenic (recessive)" "" "0000962090" "0" "30" "2" "42990569" "42990569" "subst" "0.000453055" "01804" "HAAO_000020" "g.42990569G>A" "" "" "" "OXER1(NM_148962.4):c.751C>T (p.(Arg251Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962091" "0" "30" "2" "42994581" "42994581" "subst" "0.000226776" "02326" "HAAO_000021" "g.42994581C>A" "" "" "" "HAAO(NM_012205.3):c.857G>T (p.G286V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975270" "0" "30" "2" "42997305" "42997305" "subst" "0" "01804" "HAAO_000022" "g.42997305G>A" "" "" "" "HAAO(NM_012205.3):c.462C>T (p.(Tyr154=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992854" "0" "50" "2" "42997703" "42997703" "subst" "0" "01804" "HAAO_000023" "g.42997703T>C" "" "" "" "HAAO(NM_012205.2):c.370A>G (p.(Met124Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033329" "0" "30" "2" "42995018" "42995018" "subst" "0.00152746" "01804" "HAAO_000011" "g.42995018G>A" "" "" "" "HAAO(NM_012205.3):c.681C>T (p.(Asp227=), p.D227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033330" "0" "50" "2" "42995041" "42995041" "subst" "2.03234E-5" "01804" "HAAO_000024" "g.42995041C>T" "" "" "" "HAAO(NM_012205.3):c.658G>A (p.(Glu220Lys))" "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 HAAO ## Count = 26 "{{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}}" "0000010332" "00000845" "50" "81" "-1921" "81" "-1921" "c.81-1921del" "r.(=)" "p.(=)" "" "0000011618" "00000845" "50" "81" "-1669" "81" "-1669" "c.81-1669A>G" "r.(=)" "p.(=)" "" "0000011619" "00000845" "50" "81" "-1755" "81" "-1755" "c.81-1755T>C" "r.(=)" "p.(=)" "" "0000011620" "00000845" "50" "81" "-1773" "81" "-1773" "c.81-1773T>C" "r.(=)" "p.(=)" "" "0000515820" "00000845" "30" "5213" "0" "5213" "0" "c.*4352G>C" "r.(=)" "p.(=)" "" "0000515821" "00000845" "30" "5050" "0" "5050" "0" "c.*4189G>C" "r.(=)" "p.(=)" "" "0000515822" "00000845" "30" "4716" "0" "4716" "0" "c.*3855G>A" "r.(=)" "p.(=)" "" "0000607935" "00000845" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Asp136Asn)" "" "0000630843" "00000845" "90" "483" "0" "483" "0" "c.483dup" "r.(?)" "p.(Asp162*)" "" "0000630844" "00000845" "90" "558" "0" "558" "0" "c.558G>A" "r.(?)" "p.(Trp186*)" "" "0000718780" "00000845" "30" "681" "0" "681" "0" "c.681C>T" "r.(?)" "p.(Asp227=)" "" "0000800605" "00000845" "50" "703" "0" "703" "0" "c.703G>C" "r.(?)" "p.(Gly235Arg)" "" "0000829418" "00000845" "50" "-8388608" "0" "8388607" "0" "c.-19061505_*15394169dup" "r.0?" "p.0?" "" "0000849882" "00000845" "10" "350" "5" "350" "5" "c.350+5A>C" "r.spl?" "p.?" "" "0000902098" "00000845" "70" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Trp229Arg)" "" "0000932917" "00000845" "90" "301" "0" "301" "0" "c.301G>T" "r.(?)" "p.(Gly101Trp)" "" "0000932918" "00000845" "90" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108Gln)" "" "0000932919" "00000845" "90" "43" "0" "43" "0" "c.43del" "r.(?)" "p.(Arg15Glyfs*99)" "" "0000932920" "00000845" "90" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Arg43Lys)" "" "0000932921" "00000845" "90" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.(His47Gln)" "" "0000962090" "00000845" "30" "4869" "0" "4869" "0" "c.*4008C>T" "r.(=)" "p.(=)" "" "0000962091" "00000845" "30" "857" "0" "857" "0" "c.857G>T" "r.(?)" "p.(Gly286Val)" "" "0000975270" "00000845" "30" "462" "0" "462" "0" "c.462C>T" "r.(?)" "p.(=)" "" "0000992854" "00000845" "50" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Met124Val)" "" "0001033329" "00000845" "30" "681" "0" "681" "0" "c.681C>T" "r.(?)" "p.(Asp227=)" "" "0001033330" "00000845" "50" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Glu220Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000210" "0000010332" "0000000210" "0000011618" "0000000210" "0000011619" "0000000210" "0000011620" "0000276714" "0000630843" "0000276715" "0000630844" "0000425367" "0000902098" "0000437606" "0000932917" "0000437606" "0000932918" "0000437607" "0000932919" "0000437608" "0000932920" "0000437608" "0000932921"