### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRDX1) # 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}}" "PRDX1" "peroxiredoxin 1" "1" "p34.1" "unknown" "NC_000001.10" "UD_132319070540" "" "https://www.LOVD.nl/PRDX1" "" "1" "9352" "5052" "176763" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-18 18:24:00" "00000" "2025-11-01 13:22:20" ## 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}}" "00016788" "PRDX1" "transcript variant 3" "002" "NM_181697.2" "" "NP_859048.1" "" "" "" "-121" "894" "600" "45987610" "45976707" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "02120" "MAHCC" "aciduria, methylmalonic, and homocystinuria, cblC type (MAHCC)" "AR" "277400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-09 16:30:16" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PRDX1" "02120" ## 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}}" "00311128" "" "" "" "1" "" "00006" "{PMID:Guéant 2018:29302025}" "" "F" "" "" "00y01m" "0" "" "" "white" "CHU-12122" "00311129" "" "" "" "1" "" "00006" "{PMID:Guéant 2018:29302025}" "" "F" "" "Japan;Korea" "00y02m" "0" "" "" "" "WG-3838" "00311130" "" "" "" "1" "" "00006" "{PMID:Guéant 2018:29302025}" "" "M" "" "" ">59y" "0" "" "" "white" "WG-4152" "00410256" "" "" "" "1" "" "00000" "{PMID:Hanemaaijer 2009:19452620}" "" "M" "" "" "" "0" "" "" "" "?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00311128" "02120" "00311129" "02120" "00311130" "02120" "00410256" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02120 ## 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}}" "0000236383" "02120" "00311128" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MAHCC" "methylmalonic aciduria, homocystinuria" "" "0000236384" "02120" "00311129" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236385" "02120" "00311130" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000302361" "00198" "00410256" "00000" "Familial, autosomal recessive" "10m" "Birth weight 2505 g (-2.5 standard deviations, SD), head circumference: 33 cm (-1.3 SD); bilateral coloboma of the iris and fundus and opacification of the inferior nasal part of the cornea; 2 months: right-sided inguinal hernia surgically corrected; one month later hospitalisation because of feeding difficulties and a laryngomalacia was diagnosed by laryngotracheobronchoscopy. 3m3w: length 58.5 cm (-2.3 SD), head circumference 36 cm (-2.5 SD); 80 dB mixed hearing loss of the left ear, 11 pairs of ribs with a hypoplastic first rib (left side more pronounced than right side), a sacral dimple and hypertonia; cerebral magnetic resonance imaging, cardiac and renal ultrasound, metabolic screening (including creatine kinase): normal; intra-uterine infections, especially cytomegalovirus infection: excluded; last examination: 9 months old, despite continuing feeding problems, catch-up growth with a length of 71 cm (-0.9 SD); microcephaly severely progressive - head circumference of 39.2 cm (-5.0 SD) with plagiocephaly; craniosynostosis excluded by X-ray examination; nystagmus with severe visual impairment, axial hypotonia with head lag, hypertonia of limbs and developmental delay were noted during neurological examination; no directive movements or visual pursuit; clinical episodes of suspected convulsions, electroencephalography: no signs of epilepsy" "0m" "" "" "" "" "" "" "" "intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay" "" "" ## 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}}" "0000312282" "00311128" "1" "00006" "00006" "2020-09-18 18:22:29" "" "" "SEQ" "DNA" "" "" "0000312283" "00311129" "1" "00006" "00006" "2020-09-18 18:31:22" "" "" "SEQ" "DNA" "" "" "0000312284" "00311130" "1" "00006" "00006" "2020-09-18 18:38:04" "" "" "SEQ" "DNA" "" "" "0000411520" "00410256" "1" "00000" "03840" "2022-05-22 20:24:19" "" "" "arrayCGH;FISH;SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000411520" "POMGNT1" ## 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 = 88 "{{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}}" "0000279844" "0" "30" "1" "45973127" "45973127" "subst" "0.000584952" "02330" "MMACHC_000005" "g.45973127C>T" "" "" "" "MMACHC(NM_001330540.1):c.10C>T (p.R4W, p.(Arg4Trp)), MMACHC(NM_001330540.2):c.10C>T (p.R4W), MMACHC(NM_015506.3):c.181C>T (p.R61W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45507455C>T" "" "likely benign" "" "0000279845" "0" "10" "1" "45973928" "45973928" "subst" "0.472448" "02330" "MMACHC_000008" "g.45973928G>A" "" "" "" "MMACHC(NM_015506.3):c.321G>A (p.V107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45508256G>A" "" "benign" "" "0000279847" "0" "50" "1" "45966071" "45966071" "subst" "0.000414217" "02330" "MMACHC_000003" "g.45966071G>T" "" "" "" "MMACHC(NM_001330540.1):c.-156G>T (p.(=)), MMACHC(NM_015506.2):c.67G>T (p.V23F), MMACHC(NM_015506.3):c.67G>T (p.V23F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45500399G>T" "" "VUS" "" "0000279848" "0" "50" "1" "45974808" "45974808" "subst" "9.00761E-5" "02330" "MMACHC_000013" "g.45974808C>T" "" "" "" "MMACHC(NM_015506.3):c.770C>T (p.P257L, p.(Pro257Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509136C>T" "" "VUS" "" "0000282552" "0" "10" "1" "45973928" "45973928" "subst" "0.472448" "02325" "MMACHC_000008" "g.45973928G>A" "" "" "" "MMACHC(NM_015506.3):c.321G>A (p.V107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45508256G>A" "" "benign" "" "0000282553" "0" "90" "1" "45974478" "45974478" "subst" "0.000321735" "02325" "MMACHC_000009" "g.45974478G>C" "" "" "" "MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45508806G>C" "" "pathogenic" "" "0000286617" "0" "70" "1" "45973222" "45973222" "subst" "1.62555E-5" "02326" "MMACHC_000007" "g.45973222G>T" "" "" "" "MMACHC(NM_015506.2):c.276G>T (p.E92D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45507550G>T" "" "likely pathogenic" "" "0000320796" "0" "50" "1" "45966051" "45966051" "subst" "4.06085E-6" "01804" "MMACHC_000002" "g.45966051T>C" "" "" "" "MMACHC(NM_015506.2):c.47T>C (p.(Leu16Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45500379T>C" "" "VUS" "" "0000320797" "0" "50" "1" "45966071" "45966071" "subst" "0.000414217" "01804" "MMACHC_000003" "g.45966071G>T" "" "" "" "MMACHC(NM_001330540.1):c.-156G>T (p.(=)), MMACHC(NM_015506.2):c.67G>T (p.V23F), MMACHC(NM_015506.3):c.67G>T (p.V23F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45500399G>T" "" "VUS" "" "0000320798" "0" "50" "1" "45973103" "45973103" "subst" "0.000129971" "01804" "MMACHC_000004" "g.45973103C>T" "" "" "" "MMACHC(NM_015506.2):c.157C>T (p.(Leu53Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45507431C>T" "" "VUS" "" "0000320799" "0" "50" "1" "45973127" "45973127" "subst" "0.000584952" "01804" "MMACHC_000005" "g.45973127C>T" "" "" "" "MMACHC(NM_001330540.1):c.10C>T (p.R4W, p.(Arg4Trp)), MMACHC(NM_001330540.2):c.10C>T (p.R4W), MMACHC(NM_015506.3):c.181C>T (p.R61W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45507455C>T" "" "VUS" "" "0000320801" "0" "90" "1" "45973217" "45973217" "dup" "0" "01804" "MMACHC_000006" "g.45973217dup" "" "" "" "MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45507545dup" "" "pathogenic" "" "0000320802" "0" "50" "1" "45974510" "45974510" "subst" "0.000215412" "01804" "MMACHC_000010" "g.45974510T>C" "" "" "" "MMACHC(NM_015506.2):c.472T>C (p.(Phe158Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45508838T>C" "" "VUS" "" "0000320805" "0" "30" "1" "45974835" "45974835" "subst" "0" "01804" "MMACHC_000014" "g.45974835C>G" "" "" "" "MMACHC(NM_015506.2):c.797C>G (p.(Ala266Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45509163C>G" "" "likely benign" "" "0000507695" "0" "50" "1" "45966012" "45966012" "subst" "0.000105579" "02330" "MMACHC_000015" "g.45966012C>G" "" "" "" "MMACHC(NM_015506.3):c.8C>G (p.P3R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45500340C>G" "" "VUS" "" "0000507696" "0" "30" "1" "45973072" "45973072" "subst" "0.00013812" "02330" "MMACHC_000016" "g.45973072G>A" "" "" "" "MMACHC(NM_001330540.1):c.-46G>A (p.(=)), MMACHC(NM_015506.2):c.126G>A (p.P42=), MMACHC(NM_015506.3):c.126G>A (p.P42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45507400G>A" "" "likely benign" "" "0000507697" "0" "10" "1" "45973124" "45973124" "subst" "0.00644213" "02330" "MMACHC_000017" "g.45973124G>C" "" "" "" "MMACHC(NM_001330540.1):c.7G>C (p.(Asp3His)), MMACHC(NM_015506.3):c.178G>C (p.D60H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45507452G>C" "" "benign" "" "0000507698" "0" "50" "1" "45973127" "45973127" "subst" "0.000584952" "02325" "MMACHC_000005" "g.45973127C>T" "" "" "" "MMACHC(NM_001330540.1):c.10C>T (p.R4W, p.(Arg4Trp)), MMACHC(NM_001330540.2):c.10C>T (p.R4W), MMACHC(NM_015506.3):c.181C>T (p.R61W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45507455C>T" "" "VUS" "" "0000507699" "0" "90" "1" "45973217" "45973217" "dup" "0" "02330" "MMACHC_000006" "g.45973217dup" "" "" "" "MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45507545dup" "" "pathogenic" "" "0000507700" "0" "90" "1" "45973217" "45973217" "dup" "0" "01943" "MMACHC_000006" "g.45973217dup" "" "" "" "MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45507545dup" "" "pathogenic" "" "0000507701" "0" "30" "1" "45973228" "45973228" "del" "0" "02330" "MMACHC_000018" "g.45973228del" "" "" "" "MMACHC(NM_015506.3):c.276+6delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45507556del" "" "likely benign" "" "0000507702" "0" "50" "1" "45973923" "45973923" "subst" "0.0005241" "02330" "MMACHC_000019" "g.45973923G>A" "" "" "" "MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_001330540.2):c.145G>A (p.E49K), MMACHC(NM_015506.3):c.316G>A (p.E106K, p.(Glu106Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45508251G>A" "" "VUS" "" "0000507703" "0" "50" "1" "45973923" "45973923" "subst" "0.0005241" "01943" "MMACHC_000019" "g.45973923G>A" "" "" "" "MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_001330540.2):c.145G>A (p.E49K), MMACHC(NM_015506.3):c.316G>A (p.E106K, p.(Glu106Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45508251G>A" "" "VUS" "" "0000507704" "0" "50" "1" "45973923" "45973923" "subst" "0.0005241" "02325" "MMACHC_000019" "g.45973923G>A" "" "" "" "MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_001330540.2):c.145G>A (p.E49K), MMACHC(NM_015506.3):c.316G>A (p.E106K, p.(Glu106Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45508251G>A" "" "VUS" "" "0000507705" "0" "30" "1" "45974012" "45974012" "subst" "0" "01943" "MMACHC_000020" "g.45974012G>A" "" "" "" "MMACHC(NM_001330540.1):c.234G>A (p.V78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45508340G>A" "" "likely benign" "" "0000507706" "0" "50" "1" "45974471" "45974471" "subst" "4.07817E-5" "01804" "MMACHC_000021" "g.45974471A>G" "" "" "" "MMACHC(NM_001330540.1):c.262A>G (p.(Ile88Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45508799A>G" "" "VUS" "" "0000507707" "0" "50" "1" "45974471" "45974471" "subst" "4.07817E-5" "02327" "MMACHC_000021" "g.45974471A>G" "" "" "" "MMACHC(NM_001330540.1):c.262A>G (p.(Ile88Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45508799A>G" "" "VUS" "" "0000507708" "0" "70" "1" "45974478" "45974478" "subst" "0.000321735" "02327" "MMACHC_000009" "g.45974478G>C" "" "" "" "MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45508806G>C" "" "likely pathogenic" "" "0000507709" "0" "50" "1" "45974510" "45974510" "subst" "0.000215412" "02327" "MMACHC_000010" "g.45974510T>C" "" "" "" "MMACHC(NM_015506.2):c.472T>C (p.(Phe158Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45508838T>C" "" "VUS" "" "0000507710" "0" "30" "1" "45974776" "45974776" "subst" "0.00496959" "01804" "MMACHC_000022" "g.45974776C>T" "" "" "" "MMACHC(NM_001330540.1):c.567C>T (p.(Pro189=)), MMACHC(NM_015506.3):c.738C>T (p.P246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45509104C>T" "" "likely benign" "" "0000507711" "0" "10" "1" "45974849" "45974849" "subst" "0.0112573" "02330" "MMACHC_000023" "g.45974849A>G" "" "" "" "MMACHC(NM_015506.2):c.811A>G (p.(Ser271Gly)), MMACHC(NM_015506.3):c.811A>G (p.S271G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45509177A>G" "" "benign" "" "0000507712" "0" "50" "1" "45974886" "45974889" "del" "0" "02325" "MMACHC_000024" "g.45974886_45974889del" "" "" "" "MMACHC(NM_015506.3):c.846_849delTTGA (p.*283Ffs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45509214_45509217del" "" "VUS" "" "0000507713" "0" "30" "1" "45977060" "45977060" "subst" "4.084E-6" "01804" "MMACHC_000025" "g.45977060T>C" "" "" "" "PRDX1(NM_001202431.1):c.541A>G (p.(Ser181Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45511388T>C" "" "likely benign" "" "0000605805" "0" "50" "1" "45973127" "45973127" "subst" "0.000584952" "01943" "MMACHC_000005" "g.45973127C>T" "" "" "" "MMACHC(NM_001330540.1):c.10C>T (p.R4W, p.(Arg4Trp)), MMACHC(NM_001330540.2):c.10C>T (p.R4W), MMACHC(NM_015506.3):c.181C>T (p.R61W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45507455C>T" "" "VUS" "" "0000605806" "0" "90" "1" "45973217" "45973217" "dup" "0" "02327" "MMACHC_000006" "g.45973217dup" "" "" "" "MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45507545dup" "" "pathogenic" "" "0000605807" "0" "10" "1" "45973928" "45973928" "subst" "0.472448" "02327" "MMACHC_000008" "g.45973928G>A" "" "" "" "MMACHC(NM_015506.3):c.321G>A (p.V107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45508256G>A" "" "benign" "" "0000620654" "0" "30" "1" "45973072" "45973072" "subst" "0.00013812" "01943" "MMACHC_000016" "g.45973072G>A" "" "" "" "MMACHC(NM_001330540.1):c.-46G>A (p.(=)), MMACHC(NM_015506.2):c.126G>A (p.P42=), MMACHC(NM_015506.3):c.126G>A (p.P42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45507400G>A" "" "likely benign" "" "0000675877" "0" "50" "1" "45973091" "45973091" "subst" "4.06171E-6" "01943" "MMACHC_000035" "g.45973091G>T" "" "" "" "MMACHC(NM_015506.2):c.145G>T (p.A49S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688194" "0" "50" "1" "45966071" "45966071" "subst" "0.000414217" "01943" "MMACHC_000003" "g.45966071G>T" "" "" "" "MMACHC(NM_001330540.1):c.-156G>T (p.(=)), MMACHC(NM_015506.2):c.67G>T (p.V23F), MMACHC(NM_015506.3):c.67G>T (p.V23F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688195" "0" "70" "1" "45973996" "45973996" "subst" "0.000109726" "02327" "MMACHC_000039" "g.45973996A>G" "" "" "" "MMACHC(NM_001330540.1):c.218A>G (p.Y73C), MMACHC(NM_015506.2):c.389A>G (p.Y130C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000693864" "11" "90" "1" "45977087" "45977087" "subst" "4.09722E-5" "00006" "PRDX1_000001" "g.45977087C>A" "" "{PMID:Guéant 2018:29302025}" "" "" "variant silences 2 flanking transcripts" "Germline" "" "" "0" "" "" "g.45511415C>A" "" "pathogenic (recessive)" "" "0000693865" "2" "90" "1" "45977087" "45977087" "subst" "4.09722E-5" "00006" "PRDX1_000001" "g.45977087C>A" "" "{PMID:Guéant 2018:29302025}" "" "" "variant silences 2 flanking transcripts" "Germline" "" "" "0" "" "" "g.45511415C>A" "" "pathogenic (recessive)" "" "0000693866" "11" "90" "1" "45977088" "45977088" "subst" "0" "00006" "PRDX1_000002" "g.45977088T>A" "" "{PMID:Guéant 2018:29302025}" "" "" "variant silences 2 flanking transcripts" "Germline" "yes" "" "0" "" "" "g.45511416T>A" "" "pathogenic (recessive)" "" "0000717537" "0" "70" "1" "45974478" "45974478" "subst" "0.000321735" "02329" "MMACHC_000009" "g.45974478G>C" "" "" "" "MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717538" "0" "50" "1" "45974886" "45974886" "subst" "0.000273293" "01943" "MMACHC_000030" "g.45974886G>C" "" "" "" "MMACHC(NM_001330540.1):c.677G>C (p.*226Sext*14), MMACHC(NM_015506.3):c.848G>C (p.(Ter283SerextTer14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799401" "0" "50" "1" "45973996" "45973996" "subst" "0.000109726" "01943" "MMACHC_000039" "g.45973996A>G" "" "" "" "MMACHC(NM_001330540.1):c.218A>G (p.Y73C), MMACHC(NM_015506.2):c.389A>G (p.Y130C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799402" "0" "30" "1" "45974821" "45974821" "subst" "6.54172E-5" "02330" "MMACHC_000042" "g.45974821G>A" "" "" "" "MMACHC(NM_001330540.2):c.612G>A (p.G204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848755" "0" "90" "1" "45966005" "45966005" "subst" "8.1215E-6" "02327" "MMACHC_000043" "g.45966005A>G" "" "" "" "MMACHC(NM_015506.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848756" "0" "30" "1" "45974471" "45974471" "subst" "0.000542397" "02330" "MMACHC_000044" "g.45974471A>T" "" "" "" "MMACHC(NM_001330540.1):c.262A>T (p.(Ile88Leu)), MMACHC(NM_001330540.2):c.262A>T (p.I88L), MMACHC(NM_015506.2):c.433A>T (p.I145L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848757" "0" "30" "1" "45974622" "45974622" "subst" "5.28E-5" "01943" "MMACHC_000045" "g.45974622G>C" "" "" "" "MMACHC(NM_001330540.1):c.413G>C (p.(Gly138Ala)), MMACHC(NM_015506.2):c.584G>C (p.G195A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857515" "0" "10" "1" "45973124" "45973124" "subst" "0.00644213" "01804" "MMACHC_000017" "g.45973124G>C" "" "" "" "MMACHC(NM_001330540.1):c.7G>C (p.(Asp3His)), MMACHC(NM_015506.3):c.178G>C (p.D60H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857516" "0" "50" "1" "45974471" "45974471" "subst" "0.000542397" "01804" "MMACHC_000044" "g.45974471A>T" "" "" "" "MMACHC(NM_001330540.1):c.262A>T (p.(Ile88Leu)), MMACHC(NM_001330540.2):c.262A>T (p.I88L), MMACHC(NM_015506.2):c.433A>T (p.I145L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857517" "0" "90" "1" "45974696" "45974698" "del" "0" "01804" "MMACHC_000033" "g.45974696_45974698del" "" "" "" "MMACHC(NM_015506.2):c.656_658del (p.(Lys220del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857518" "0" "50" "1" "45974804" "45974809" "del" "0" "01943" "MMACHC_000046" "g.45974804_45974809del" "" "" "" "MMACHC(NM_001330540.1):c.595_600del (p.(Ala199_Pro200del)), MMACHC(NM_015506.2):c.766_771delGCCCCC (p.A256_P257del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857519" "0" "10" "1" "45974849" "45974849" "subst" "0.0112573" "01804" "MMACHC_000023" "g.45974849A>G" "" "" "" "MMACHC(NM_015506.2):c.811A>G (p.(Ser271Gly)), MMACHC(NM_015506.3):c.811A>G (p.S271G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000868657" "3" "70" "1" "45862062" "46510920" "dup" "0" "00000" "MMACHC_000047" "g.45862062_46510920dup" "" "{PMID:Hanemaaijer 2009:19452620}" "" "POMGNT1" "heterozygous, both parents wild type; t(2;14)(q37.3;q13) with duplication in chromosome 1p34.1" "De novo" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000883479" "0" "30" "1" "45973072" "45973072" "subst" "0.00013812" "01804" "MMACHC_000016" "g.45973072G>A" "" "" "" "MMACHC(NM_001330540.1):c.-46G>A (p.(=)), MMACHC(NM_015506.2):c.126G>A (p.P42=), MMACHC(NM_015506.3):c.126G>A (p.P42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883480" "0" "30" "1" "45973239" "45973239" "subst" "0.000451844" "02326" "MMACHC_000050" "g.45973239T>A" "" "" "" "MMACHC(NM_015506.2):c.276+17T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883481" "0" "30" "1" "45973880" "45973880" "subst" "0.00031688" "01804" "MMACHC_000051" "g.45973880C>G" "" "" "" "MMACHC(NM_001330540.1):c.106-4C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883482" "0" "50" "1" "45974804" "45974809" "del" "0" "01804" "MMACHC_000046" "g.45974804_45974809del" "" "" "" "MMACHC(NM_001330540.1):c.595_600del (p.(Ala199_Pro200del)), MMACHC(NM_015506.2):c.766_771delGCCCCC (p.A256_P257del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911084" "0" "50" "1" "45973028" "45973028" "subst" "8.1359E-6" "01804" "MMACHC_000053" "g.45973028G>A" "" "" "" "MMACHC(NM_001330540.1):c.-90G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911085" "0" "50" "1" "45974679" "45974679" "subst" "0.000154365" "01804" "MMACHC_000054" "g.45974679G>A" "" "" "" "MMACHC(NM_001330540.1):c.470G>A (p.(Arg157His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911086" "0" "10" "1" "45974776" "45974776" "subst" "0.00496959" "02325" "MMACHC_000022" "g.45974776C>T" "" "" "" "MMACHC(NM_001330540.1):c.567C>T (p.(Pro189=)), MMACHC(NM_015506.3):c.738C>T (p.P246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947261" "0" "50" "1" "45966071" "45966071" "subst" "0.000414217" "02325" "MMACHC_000003" "g.45966071G>T" "" "" "" "MMACHC(NM_001330540.1):c.-156G>T (p.(=)), MMACHC(NM_015506.2):c.67G>T (p.V23F), MMACHC(NM_015506.3):c.67G>T (p.V23F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947262" "0" "30" "1" "45974471" "45974471" "subst" "0.000542397" "02326" "MMACHC_000044" "g.45974471A>T" "" "" "" "MMACHC(NM_001330540.1):c.262A>T (p.(Ile88Leu)), MMACHC(NM_001330540.2):c.262A>T (p.I88L), MMACHC(NM_015506.2):c.433A>T (p.I145L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947263" "0" "90" "1" "45974478" "45974478" "subst" "0.000321735" "01804" "MMACHC_000009" "g.45974478G>C" "" "" "" "MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961073" "0" "30" "1" "45973072" "45973072" "subst" "0.00013812" "02326" "MMACHC_000016" "g.45973072G>A" "" "" "" "MMACHC(NM_001330540.1):c.-46G>A (p.(=)), MMACHC(NM_015506.2):c.126G>A (p.P42=), MMACHC(NM_015506.3):c.126G>A (p.P42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961074" "0" "50" "1" "45973939" "45973939" "subst" "0.000300727" "01804" "MMACHC_000055" "g.45973939G>A" "" "" "" "MMACHC(NM_001330540.1):c.161G>A (p.(Arg54Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961075" "0" "90" "1" "45973995" "45973995" "subst" "1.6255E-5" "01804" "MMACHC_000056" "g.45973995T>C" "" "" "" "MMACHC(NM_015506.2):c.388T>C (p.(Tyr130His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974008" "0" "90" "1" "45973217" "45973217" "dup" "0" "02326" "MMACHC_000001" "g.45973217dup" "" "" "" "MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974009" "0" "30" "1" "45973923" "45973923" "subst" "0.0005241" "01804" "MMACHC_000019" "g.45973923G>A" "" "" "" "MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_001330540.2):c.145G>A (p.E49K), MMACHC(NM_015506.3):c.316G>A (p.E106K, p.(Glu106Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974010" "0" "50" "1" "45973941" "45973941" "subst" "5.28228E-5" "01804" "MMACHC_000057" "g.45973941C>T" "" "" "" "MMACHC(NM_015506.3):c.334C>T (p.(Arg112Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974011" "0" "90" "1" "45973996" "45973996" "subst" "0.000109726" "02326" "MMACHC_000039" "g.45973996A>G" "" "" "" "MMACHC(NM_001330540.1):c.218A>G (p.Y73C), MMACHC(NM_015506.2):c.389A>G (p.Y130C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974012" "0" "90" "1" "45974604" "45974604" "subst" "2.84292E-5" "01804" "MMACHC_000058" "g.45974604G>A" "" "" "" "MMACHC(NM_015506.3):c.566G>A (p.(Arg189His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974013" "0" "50" "1" "45974607" "45974607" "subst" "0" "01804" "MMACHC_000059" "g.45974607T>C" "" "" "" "MMACHC(NM_015506.3):c.569T>C (p.(Ile190Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974014" "0" "30" "1" "45974622" "45974622" "subst" "5.28E-5" "01804" "MMACHC_000045" "g.45974622G>C" "" "" "" "MMACHC(NM_001330540.1):c.413G>C (p.(Gly138Ala)), MMACHC(NM_015506.2):c.584G>C (p.G195A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013326" "0" "90" "1" "45974001" "45974001" "subst" "0.000101602" "02326" "MMACHC_000028" "g.45974001C>T" "" "" "" "MMACHC(NM_015506.2):c.394C>T (p.R132*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013327" "0" "90" "1" "45974478" "45974478" "subst" "0.000321735" "02326" "MMACHC_000009" "g.45974478G>C" "" "" "" "MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013328" "0" "50" "1" "45974496" "45974496" "subst" "0" "01804" "MMACHC_000061" "g.45974496G>C" "" "" "" "MMACHC(NM_015506.2):c.458G>C (p.(Arg153Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032097" "0" "90" "1" "45966005" "45966005" "subst" "8.1215E-6" "02330" "MMACHC_000043" "g.45966005A>G" "" "" "" "MMACHC(NM_015506.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001032098" "0" "30" "1" "45973111" "45973111" "subst" "0.000191388" "01804" "MMACHC_000062" "g.45973111G>A" "" "" "" "MMACHC(NM_015506.3):c.165G>A (p.(Thr55=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032099" "0" "30" "1" "45974669" "45974669" "subst" "0.000113716" "01804" "MMACHC_000063" "g.45974669C>A" "" "" "" "MMACHC(NM_015506.3):c.631C>A (p.(Pro211Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032100" "0" "50" "1" "45974837" "45974837" "subst" "0.000219993" "01804" "MMACHC_000064" "g.45974837C>T" "" "" "" "MMACHC(NM_015506.3):c.799C>T (p.(Arg267Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045690" "0" "30" "1" "45973876" "45973881" "dup" "0" "01804" "MMACHC_000065" "g.45973876_45973881dup" "" "" "" "MMACHC(NM_001330540.1):c.106-8_106-3dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045691" "0" "90" "1" "45974520" "45974520" "subst" "0.00015845" "01804" "MMACHC_000066" "g.45974520G>A" "" "" "" "MMACHC(NM_001330540.1):c.311G>A (p.(Arg104Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050102" "0" "30" "1" "45974609" "45974609" "subst" "2.43688E-5" "01804" "MMACHC_000068" "g.45974609G>T" "" "" "" "MMACHC(NM_015506.3):c.571G>T (p.(Ala191Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050103" "0" "50" "1" "45974808" "45974808" "subst" "9.00761E-5" "01804" "MMACHC_000013" "g.45974808C>T" "" "" "" "MMACHC(NM_015506.3):c.770C>T (p.P257L, p.(Pro257Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050104" "0" "50" "1" "45974886" "45974886" "subst" "0.000273293" "01804" "MMACHC_000030" "g.45974886G>C" "" "" "" "MMACHC(NM_001330540.1):c.677G>C (p.*226Sext*14), MMACHC(NM_015506.3):c.848G>C (p.(Ter283SerextTer14))" "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 PRDX1 ## Count = 88 "{{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}}" "0000279844" "00016788" "30" "4474" "0" "4474" "0" "c.*3874G>A" "r.(=)" "p.(=)" "" "0000279845" "00016788" "10" "3673" "0" "3673" "0" "c.*3073C>T" "r.(=)" "p.(=)" "" "0000279847" "00016788" "50" "11530" "0" "11530" "0" "c.*10930C>A" "r.(=)" "p.(=)" "" "0000279848" "00016788" "50" "2793" "0" "2793" "0" "c.*2193G>A" "r.(=)" "p.(=)" "" "0000282552" "00016788" "10" "3673" "0" "3673" "0" "c.*3073C>T" "r.(=)" "p.(=)" "" "0000282553" "00016788" "90" "3123" "0" "3123" "0" "c.*2523C>G" "r.(=)" "p.(=)" "" "0000286617" "00016788" "70" "4379" "0" "4379" "0" "c.*3779C>A" "r.(=)" "p.(=)" "" "0000320796" "00016788" "50" "11550" "0" "11550" "0" "c.*10950A>G" "r.(=)" "p.(=)" "" "0000320797" "00016788" "50" "11530" "0" "11530" "0" "c.*10930C>A" "r.(=)" "p.(=)" "" "0000320798" "00016788" "50" "4498" "0" "4498" "0" "c.*3898G>A" "r.(=)" "p.(=)" "" "0000320799" "00016788" "50" "4474" "0" "4474" "0" "c.*3874G>A" "r.(=)" "p.(=)" "" "0000320801" "00016788" "90" "4384" "0" "4384" "0" "c.*3784dup" "r.(?)" "p.(=)" "" "0000320802" "00016788" "50" "3091" "0" "3091" "0" "c.*2491A>G" "r.(=)" "p.(=)" "" "0000320805" "00016788" "30" "2766" "0" "2766" "0" "c.*2166G>C" "r.(=)" "p.(=)" "" "0000507695" "00016788" "50" "11589" "0" "11589" "0" "c.*10989G>C" "r.(=)" "p.(=)" "" "0000507696" "00016788" "30" "4529" "0" "4529" "0" "c.*3929C>T" "r.(=)" "p.(=)" "" "0000507697" "00016788" "10" "4477" "0" "4477" "0" "c.*3877C>G" "r.(=)" "p.(=)" "" "0000507698" "00016788" "50" "4474" "0" "4474" "0" "c.*3874G>A" "r.(=)" "p.(=)" "" "0000507699" "00016788" "90" "4384" "0" "4384" "0" "c.*3784dup" "r.(?)" "p.(=)" "" "0000507700" "00016788" "90" "4384" "0" "4384" "0" "c.*3784dup" "r.(?)" "p.(=)" "" "0000507701" "00016788" "30" "4374" "0" "4374" "0" "c.*3774del" "r.(?)" "p.(=)" "" "0000507702" "00016788" "50" "3678" "0" "3678" "0" "c.*3078C>T" "r.(=)" "p.(=)" "" "0000507703" "00016788" "50" "3678" "0" "3678" "0" "c.*3078C>T" "r.(=)" "p.(=)" "" "0000507704" "00016788" "50" "3678" "0" "3678" "0" "c.*3078C>T" "r.(=)" "p.(=)" "" "0000507705" "00016788" "30" "3589" "0" "3589" "0" "c.*2989C>T" "r.(=)" "p.(=)" "" "0000507706" "00016788" "50" "3130" "0" "3130" "0" "c.*2530T>C" "r.(=)" "p.(=)" "" "0000507707" "00016788" "50" "3130" "0" "3130" "0" "c.*2530T>C" "r.(=)" "p.(=)" "" "0000507708" "00016788" "70" "3123" "0" "3123" "0" "c.*2523C>G" "r.(=)" "p.(=)" "" "0000507709" "00016788" "50" "3091" "0" "3091" "0" "c.*2491A>G" "r.(=)" "p.(=)" "" "0000507710" "00016788" "30" "2825" "0" "2825" "0" "c.*2225G>A" "r.(=)" "p.(=)" "" "0000507711" "00016788" "10" "2752" "0" "2752" "0" "c.*2152T>C" "r.(=)" "p.(=)" "" "0000507712" "00016788" "50" "2714" "0" "2717" "0" "c.*2114_*2117del" "r.(=)" "p.(=)" "" "0000507713" "00016788" "30" "541" "0" "541" "0" "c.541A>G" "r.(?)" "p.(Ser181Gly)" "" "0000605805" "00016788" "50" "4474" "0" "4474" "0" "c.*3874G>A" "r.(=)" "p.(=)" "" "0000605806" "00016788" "90" "4384" "0" "4384" "0" "c.*3784dup" "r.(?)" "p.(=)" "" "0000605807" "00016788" "10" "3673" "0" "3673" "0" "c.*3073C>T" "r.(=)" "p.(=)" "" "0000620654" "00016788" "30" "4529" "0" "4529" "0" "c.*3929C>T" "r.(=)" "p.(=)" "" "0000675877" "00016788" "50" "4510" "0" "4510" "0" "c.*3910C>A" "r.(=)" "p.(=)" "" "0000688194" "00016788" "50" "11530" "0" "11530" "0" "c.*10930C>A" "r.(=)" "p.(=)" "" "0000688195" "00016788" "70" "3605" "0" "3605" "0" "c.*3005T>C" "r.(=)" "p.(=)" "" "0000693864" "00016788" "90" "515" "-1" "515" "-1" "c.515-1G>T" "r.515_delins[NC_000001.10:g.45965566_(45966025_?)]" "p.?" "5i" "0000693865" "00016788" "90" "515" "-1" "515" "-1" "c.515-1G>T" "r.515_delins[NC_000001.10:g.45965566_(45966025_?)]" "p.?" "5i" "0000693866" "00016788" "90" "515" "-2" "515" "-2" "c.515-2A>T" "r.515_delins[NC_000001.10:g.45965566_(45966025_?)]" "p.?" "5i" "0000717537" "00016788" "70" "3123" "0" "3123" "0" "c.*2523C>G" "r.(=)" "p.(=)" "" "0000717538" "00016788" "50" "2715" "0" "2715" "0" "c.*2115C>G" "r.(=)" "p.(=)" "" "0000799401" "00016788" "50" "3605" "0" "3605" "0" "c.*3005T>C" "r.(=)" "p.(=)" "" "0000799402" "00016788" "30" "2780" "0" "2780" "0" "c.*2180C>T" "r.(=)" "p.(=)" "" "0000848755" "00016788" "90" "11596" "0" "11596" "0" "c.*10996T>C" "r.(=)" "p.(=)" "" "0000848756" "00016788" "30" "3130" "0" "3130" "0" "c.*2530T>A" "r.(=)" "p.(=)" "" "0000848757" "00016788" "30" "2979" "0" "2979" "0" "c.*2379C>G" "r.(=)" "p.(=)" "" "0000857515" "00016788" "10" "4477" "0" "4477" "0" "c.*3877C>G" "r.(=)" "p.(=)" "" "0000857516" "00016788" "50" "3130" "0" "3130" "0" "c.*2530T>A" "r.(=)" "p.(=)" "" "0000857517" "00016788" "90" "2905" "0" "2907" "0" "c.*2305_*2307del" "r.(=)" "p.(=)" "" "0000857518" "00016788" "50" "2795" "0" "2800" "0" "c.*2195_*2200del" "r.(=)" "p.(=)" "" "0000857519" "00016788" "10" "2752" "0" "2752" "0" "c.*2152T>C" "r.(=)" "p.(=)" "" "0000868657" "00016788" "70" "-523431" "0" "115539" "0" "c.-523431_*114939dup" "r.0?" "p.0?" "" "0000883479" "00016788" "30" "4529" "0" "4529" "0" "c.*3929C>T" "r.(=)" "p.(=)" "" "0000883480" "00016788" "30" "4362" "0" "4362" "0" "c.*3762A>T" "r.(=)" "p.(=)" "" "0000883481" "00016788" "30" "3721" "0" "3721" "0" "c.*3121G>C" "r.(=)" "p.(=)" "" "0000883482" "00016788" "50" "2795" "0" "2800" "0" "c.*2195_*2200del" "r.(=)" "p.(=)" "" "0000911084" "00016788" "50" "4573" "0" "4573" "0" "c.*3973C>T" "r.(=)" "p.(=)" "" "0000911085" "00016788" "50" "2922" "0" "2922" "0" "c.*2322C>T" "r.(=)" "p.(=)" "" "0000911086" "00016788" "10" "2825" "0" "2825" "0" "c.*2225G>A" "r.(=)" "p.(=)" "" "0000947261" "00016788" "50" "11530" "0" "11530" "0" "c.*10930C>A" "r.(=)" "p.(=)" "" "0000947262" "00016788" "30" "3130" "0" "3130" "0" "c.*2530T>A" "r.(=)" "p.(=)" "" "0000947263" "00016788" "90" "3123" "0" "3123" "0" "c.*2523C>G" "r.(=)" "p.(=)" "" "0000961073" "00016788" "30" "4529" "0" "4529" "0" "c.*3929C>T" "r.(=)" "p.(=)" "" "0000961074" "00016788" "50" "3662" "0" "3662" "0" "c.*3062C>T" "r.(=)" "p.(=)" "" "0000961075" "00016788" "90" "3606" "0" "3606" "0" "c.*3006A>G" "r.(=)" "p.(=)" "" "0000974008" "00016788" "90" "4384" "0" "4384" "0" "c.*3784dup" "r.(?)" "p.(=)" "" "0000974009" "00016788" "30" "3678" "0" "3678" "0" "c.*3078C>T" "r.(=)" "p.(=)" "" "0000974010" "00016788" "50" "3660" "0" "3660" "0" "c.*3060G>A" "r.(=)" "p.(=)" "" "0000974011" "00016788" "90" "3605" "0" "3605" "0" "c.*3005T>C" "r.(=)" "p.(=)" "" "0000974012" "00016788" "90" "2997" "0" "2997" "0" "c.*2397C>T" "r.(=)" "p.(=)" "" "0000974013" "00016788" "50" "2994" "0" "2994" "0" "c.*2394A>G" "r.(=)" "p.(=)" "" "0000974014" "00016788" "30" "2979" "0" "2979" "0" "c.*2379C>G" "r.(=)" "p.(=)" "" "0001013326" "00016788" "90" "3600" "0" "3600" "0" "c.*3000G>A" "r.(=)" "p.(=)" "" "0001013327" "00016788" "90" "3123" "0" "3123" "0" "c.*2523C>G" "r.(=)" "p.(=)" "" "0001013328" "00016788" "50" "3105" "0" "3105" "0" "c.*2505C>G" "r.(=)" "p.(=)" "" "0001032097" "00016788" "90" "11596" "0" "11596" "0" "c.*10996T>C" "r.(=)" "p.(=)" "" "0001032098" "00016788" "30" "4490" "0" "4490" "0" "c.*3890C>T" "r.(=)" "p.(=)" "" "0001032099" "00016788" "30" "2932" "0" "2932" "0" "c.*2332G>T" "r.(=)" "p.(=)" "" "0001032100" "00016788" "50" "2764" "0" "2764" "0" "c.*2164G>A" "r.(=)" "p.(=)" "" "0001045690" "00016788" "30" "3721" "0" "3726" "0" "c.*3121_*3126dup" "r.(=)" "p.(=)" "" "0001045691" "00016788" "90" "3081" "0" "3081" "0" "c.*2481C>T" "r.(=)" "p.(=)" "" "0001050102" "00016788" "30" "2992" "0" "2992" "0" "c.*2392C>A" "r.(=)" "p.(=)" "" "0001050103" "00016788" "50" "2793" "0" "2793" "0" "c.*2193G>A" "r.(=)" "p.(=)" "" "0001050104" "00016788" "50" "2715" "0" "2715" "0" "c.*2115C>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000312282" "0000693864" "0000312283" "0000693866" "0000312284" "0000693865" "0000411520" "0000868657"