### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRAPPC2L) # 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}}" "TRAPPC2L" "trafficking protein particle complex 2-like" "16" "q24.3" "unknown" "NC_000016.9" "UD_132610027433" "" "https://www.LOVD.nl/TRAPPC2L" "" "1" "30887" "51693" "610970" "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" "2021-11-30 16:02:40" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00021756" "TRAPPC2L" "trafficking protein particle complex 2-like" "001" "NM_016209.3" "" "NP_057293.1" "" "" "" "-53" "576" "423" "88923506" "88927520" "" "0000-00-00 00:00:00" "" "" "00025865" "TRAPPC2L" "trafficking protein particle complex 2 like (TRAPPC2L), transcript variant 3" "000" "NM_001318525.1" "" "NP_001305454.1" "" "" "" "-65" "2164" "420" "88923494" "88929094" "00006" "2023-10-24 15:38:24" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06314" "PEERB" "Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis" "AR" "618331" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TRAPPC2L" "06314" ## 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}}" "00394126" "" "" "" "1" "" "00006" "{PMID:Milev 2018:30120216}" "2-generation family, 1 affected, unaffected heterozygous carrier parents, second-degree cousins" "F" "yes" "Italy" "" "0" "" "" "" "Pat1" "00394127" "" "" "" "1" "" "00006" "{PMID:Milev 2018:30120216}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Austria" "" "0" "" "" "" "Pat2" "00394128" "" "" "" "3" "" "00006" "{PMID:Al-Deri 2021:32843486}" "2-generation family, 3 affected sibs, unaffected heterozygous carrier parents/relatives" "F" "no" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatII2" "00394129" "" "" "00394128" "1" "" "00006" "{PMID:Al-Deri 2021:32843486}" "sister" "F" "no" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatII3" "00394130" "" "" "00394128" "1" "" "00006" "{PMID:Al-Deri 2021:32843486}" "brother" "M" "no" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatII4" "00438802" "" "" "" "2" "" "00006" "{PMID:Abaji 2023:36849228}" "4-generation family, affected brother/sister, unaffected heterozygous parents/relatives" "M" "yes" "France" "" "0" "" "" "" "FamPatIV3" "00438803" "" "" "00438802" "1" "" "00006" "{PMID:Abaji 2023:36849228}" "sister" "F" "" "France" "" "0" "" "" "" "FamPatIV4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00394126" "00198" "00394127" "00198" "00394128" "00198" "00394129" "00198" "00394130" "00198" "00438802" "05611" "00438803" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611, 06314 ## 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}}" "0000287332" "00198" "00394126" "00006" "Isolated (sporadic)" "03y" "uneventful pregnancy; perinatal distress; illness provoked regression; 16m/39m-illness provoked regression events, multiple minor events; delayed development prior to first event, regression after first event; CK during illnesses up to 16000 (U/L), intermittent fluctuating: normal range/up to 1000; MRI 10m-delayed myelination, 16m-acute encephalopathy with posterior oedema, 18m-atrophy, 30m-increased atrophy; severe global developmental delay; 11m-sit alone, subsequently lost ability, never achieved independent walking; no speech; acquired microcephaly; tetraplegia; dystonia; epilepsy, polytherapy with anti-epileptic drugs (AEDs); cerebral visual impairment; 39m-protein-losing enteropathy9m-developmental delay;" "00y09m" "" "developmental delay" "" "" "" "" "" "PEERB" "developmental delay" "" "0000287333" "00198" "00394127" "00006" "Isolated (sporadic)" "16y" "9m-regression following infection; intrauterine dystrophy, preterm labour; perinatal distress; illness provoked regression; 9m-illness provoked regression events, later pneumonias, infections (gall bladder), but already tetraparesis; normal development prior to first event, regression after first event; CK during illnesses up to 5500 (U/L), intermittent normal range ; MRI 10m-delayed myelination; severe global developmental delay; 7m-sit alone , subsequently lost this ability, never achieved independent walking; no speech; acquired microcephaly, no further head growth after episode at 9m; tetraplegia; dystonia; epilepsy, 3-5 jerks/day, no AEDs; appears clinically to have cerebral visual impairment; recurrent vitamin B12 and folic acid-associated anaemia, cholelithiasis, recurrent pneumonia" "00y09m" "" "regression following infection" "" "" "" "" "" "PEERB" "regression following infection" "" "0000287334" "00198" "00394128" "00006" "Familial, autosomal recessive" "38y" "unremarkable prenatal/perinatal development; 12m-developmental delay; no illness provoked regression; 12m-sit independently, never crawled, 2y-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures" "00y12m" "" "developmental delay" "" "" "" "" "" "PEERB" "developmental delay" "" "0000287335" "00198" "00394129" "00006" "Familial, autosomal recessive" "36y" "unremarkable prenatal/perinatal development; 4m-developmental delay; no illness provoked regression; very mild motor delay, 15m-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures" "00y04m" "" "developmental delay" "" "" "" "" "" "PEERB" "developmental delay" "" "0000287336" "00198" "00394130" "00006" "Familial, autosomal recessive" "33y" "unremarkable prenatal/perinatal development; MRI brain 2y-normal; 6m-developmental delay; no illness provoked regression; 12m-sit, 18m-crawl, 2-3y-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures" "00y06m" "" "developmental delay" "" "" "" "" "" "PEERB" "developmental delay" "" "0000328700" "05611" "00438802" "00006" "Familial, autosomal recessive" "03y" "born at term, weight 3.450kg (45th percentile), height 47.5cm (5th), OFC 35cm (48th); 1m-hypotonia, poor contact, developmental delay;2y-6y-normal growth, not walking, no speech, stereotyped hand movements, self-injurious behaviour, mild dysmorphic features (oval face, floppy face, strabismus, prominent nose, wide mouth, everted inferior lip, hyperlaxity; severe intellectual disability, not walking, no speech; MRI brain 1–3y-non-specific anomalies, delayed myelination, thin corpus callosum; surgery for hip dysplasia due to joint hypermobility" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000328701" "05611" "00438803" "00006" "Familial, autosomal recessive" "09y" "born at term, weight 3.660kg (77th percentile), height 47cm (6th), OFC 35cm (67th); severe developmental delay; 7y-9y-first assisted steps; stereotyped hand movements, behavioural problems, normal OFC, hyperlaxity, mild dysmorphic features, non-specific MRI brain abnormalities; able to walk without support, when standing hyperlordosis noticeable, ould make vocal contact, no clear speech" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## 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}}" "0000395374" "00394126" "1" "00006" "00006" "2021-11-30 16:23:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000395375" "00394127" "1" "00006" "00006" "2021-11-30 16:29:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000395376" "00394128" "1" "00006" "00006" "2021-11-30 16:42:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000395377" "00394129" "1" "00006" "00006" "2021-11-30 16:42:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000395378" "00394130" "1" "00006" "00006" "2021-11-30 16:42:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440284" "00438802" "1" "00006" "00006" "2023-10-24 15:48:50" "" "" "SEQ-NG" "DNA" "" "WES" "0000440285" "00438803" "1" "00006" "00006" "2023-10-24 15:55:55" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000440285" "TRAPPC2L" ## 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 = 25 "{{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}}" "0000288182" "0" "30" "16" "88923175" "88923175" "subst" "0" "01943" "GALNS_000030" "g.88923175G>A" "" "" "" "GALNS(NM_000512.4):c.111C>T (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88856767G>A" "" "likely benign" "" "0000559744" "0" "90" "16" "88923592" "88923592" "subst" "0" "02326" "GALNS_000036" "g.88923592G>A" "" "" "" "TRAPPC2L(NM_016209.5):c.33+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88857184G>A" "" "pathogenic" "" "0000559745" "0" "30" "16" "88925057" "88925057" "subst" "0" "01804" "GALNS_000037" "g.88925057A>G" "" "" "" "TRAPPC2L(NM_016209.3):c.64A>G (p.(Thr22Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858649A>G" "" "likely benign" "" "0000559746" "0" "30" "16" "88925138" "88925138" "subst" "0" "01804" "GALNS_000038" "g.88925138G>T" "" "" "" "TRAPPC2L(NM_016209.3):c.145G>T (p.(Ala49Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858730G>T" "" "likely benign" "" "0000559747" "0" "30" "16" "88926356" "88926356" "subst" "4.32717E-6" "01804" "GALNS_000039" "g.88926356A>G" "" "" "" "TRAPPC2L(NM_016209.3):c.350A>G (p.(Asn117Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88859948A>G" "" "likely benign" "" "0000559749" "0" "50" "16" "88930700" "88930700" "del" "0" "01943" "GALNS_000041" "g.88930700del" "" "" "" "PABPN1L(NM_001080487.2):c.743delT (p.F248Sfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88864292del" "" "VUS" "" "0000559750" "0" "50" "16" "88930701" "88930701" "subst" "0" "01943" "GALNS_000042" "g.88930701G>C" "" "" "" "PABPN1L(NM_001294328.1):c.653C>G (p.P218R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88864293G>C" "" "VUS" "" "0000559751" "0" "30" "16" "88930705" "88930705" "subst" "0.000474821" "01943" "GALNS_000043" "g.88930705G>C" "" "" "" "PABPN1L(NM_001080487.2):c.737C>G (p.A246G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88864297G>C" "" "likely benign" "" "0000616242" "0" "30" "16" "88926368" "88926402" "dup" "0" "01804" "GALNS_000047" "g.88926368_88926402dup" "" "" "" "TRAPPC2L(NM_016209.3):c.361_362insGCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCT (p.(Ser125ArgfsTer20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88859960_88859994dup" "" "likely benign" "" "0000680728" "0" "50" "16" "88923239" "88923239" "subst" "0" "01943" "GALNS_000051" "g.88923239A>C" "" "" "" "GALNS(NM_000512.4):c.47T>G (p.V16G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000826639" "3" "70" "16" "88925102" "88925102" "subst" "1.62473E-5" "00006" "TRAPPC2L_000001" "g.88925102G>T" "" "{PMID:Milev 2018:30120216}" "" "" "" "Germline" "" "" "0" "" "" "g.88858694G>T" "" "likely pathogenic (recessive)" "" "0000826641" "3" "90" "16" "88925102" "88925102" "subst" "1.62473E-5" "00006" "TRAPPC2L_000001" "g.88925102G>T" "" "{PMID:Milev 2018:30120216}" "" "" "unrelated parents, TRAPPC2L in 1.9 Mb region of homozygosity" "Germline" "" "" "0" "" "" "g.88858694G>T" "" "pathogenic (recessive)" "" "0000826642" "3" "90" "16" "88923563" "88923563" "subst" "9.74251E-6" "00006" "TRAPPC2L_000002" "g.88923563C>G" "" "{PMID:Al-Deri 2021:32843486}" "" "" "" "Germline" "yes" "" "0" "" "" "g.88857155C>G" "" "pathogenic (recessive)" "" "0000826730" "3" "90" "16" "88923563" "88923563" "subst" "9.74251E-6" "00006" "TRAPPC2L_000002" "g.88923563C>G" "" "{PMID:Al-Deri 2021:32843486}" "" "" "" "Germline" "yes" "" "0" "" "" "g.88857155C>G" "" "pathogenic (recessive)" "" "0000826733" "3" "90" "16" "88923563" "88923563" "subst" "9.74251E-6" "00006" "TRAPPC2L_000002" "g.88923563C>G" "" "{PMID:Al-Deri 2021:32843486}" "" "" "" "Germline" "yes" "" "0" "" "" "g.88857155C>G" "" "pathogenic (recessive)" "" "0000926368" "0" "30" "16" "88926026" "88926026" "subst" "0.0211367" "01804" "GALNS_000068" "g.88926026C>T" "" "" "" "TRAPPC2L(NM_001318524.1):c.207-45C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936613" "3" "90" "16" "88926373" "88926373" "subst" "0" "00006" "TRAPPC2L_000003" "g.88926373C>T" "" "{PMID:Abaji 2023:36849228}" "" "" "" "Germline" "yes" "" "0" "" "" "g.88859965C>T" "" "pathogenic (recessive)" "" "0000936614" "3" "90" "16" "88926373" "88926373" "subst" "0" "00006" "TRAPPC2L_000003" "g.88926373C>T" "" "{PMID:Abaji 2023:36849228}" "" "" "" "Germline" "yes" "" "0" "" "" "g.88859965C>T" "" "pathogenic (recessive)" "" "0000982192" "0" "70" "16" "88923593" "88923593" "subst" "0" "01804" "GALNS_000081" "g.88923593T>G" "" "" "" "TRAPPC2L(NM_001318525.2):c.33+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982193" "0" "30" "16" "88925164" "88925164" "subst" "7.32082E-5" "01804" "GALNS_000082" "g.88925164C>T" "" "" "" "TRAPPC2L(NM_001318526.2):c.53C>T (p.(Thr18Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982194" "0" "50" "16" "88926010" "88926010" "subst" "4.06689E-6" "01804" "GALNS_000083" "g.88926010A>G" "" "" "" "TRAPPC2L(NM_001318527.2):c.53A>G (p.(His18Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982195" "0" "50" "16" "88927347" "88927347" "subst" "0" "01804" "GALNS_000084" "g.88927347A>G" "" "" "" "TRAPPC2L(NM_001318525.2):c.400A>G (p.(Met134Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041463" "0" "50" "16" "88925169" "88925169" "subst" "0" "01804" "GALNS_000105" "g.88925169G>A" "" "" "" "TRAPPC2L(NM_001318525.2):c.176G>A (p.(Gly59Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041464" "0" "50" "16" "88925196" "88925196" "subst" "0.000151233" "01804" "GALNS_000106" "g.88925196A>G" "" "" "" "TRAPPC2L(NM_001318525.2):c.203A>G (p.(Lys68Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041465" "0" "50" "16" "88926367" "88926367" "subst" "0" "01804" "GALNS_000107" "g.88926367C>T" "" "" "" "TRAPPC2L(NM_001318525.2):c.361C>T (p.(Arg121Cys))" "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 TRAPPC2L ## Count = 45 "{{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}}" "0000288182" "00025865" "30" "-384" "0" "-384" "0" "c.-384G>A" "r.(?)" "p.(=)" "" "0000288182" "00021756" "30" "-384" "0" "-384" "0" "c.-384G>A" "r.(?)" "p.(=)" "" "0000559744" "00025865" "90" "33" "1" "33" "1" "c.33+1G>A" "r.spl?" "p.?" "" "0000559744" "00021756" "90" "33" "1" "33" "1" "c.33+1G>A" "r.spl?" "p.?" "" "0000559745" "00025865" "30" "64" "0" "64" "0" "c.64A>G" "r.(?)" "p.(Thr22Ala)" "" "0000559745" "00021756" "30" "64" "0" "64" "0" "c.64A>G" "r.(?)" "p.(Thr22Ala)" "" "0000559746" "00025865" "30" "145" "0" "145" "0" "c.145G>T" "r.(?)" "p.(Ala49Ser)" "" "0000559746" "00021756" "30" "145" "0" "145" "0" "c.145G>T" "r.(?)" "p.(Ala49Ser)" "" "0000559747" "00025865" "30" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Asn117Ser)" "" "0000559747" "00021756" "30" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Asn117Ser)" "" "0000559749" "00025865" "50" "3753" "0" "3753" "0" "c.*3333del" "r.(?)" "p.(=)" "" "0000559749" "00021756" "50" "3756" "0" "3756" "0" "c.*3333del" "r.(?)" "p.(=)" "" "0000559750" "00025865" "50" "3754" "0" "3754" "0" "c.*3334G>C" "r.(=)" "p.(=)" "" "0000559750" "00021756" "50" "3757" "0" "3757" "0" "c.*3334G>C" "r.(=)" "p.(=)" "" "0000559751" "00025865" "30" "3758" "0" "3758" "0" "c.*3338G>C" "r.(=)" "p.(=)" "" "0000559751" "00021756" "30" "3761" "0" "3761" "0" "c.*3338G>C" "r.(=)" "p.(=)" "" "0000616242" "00025865" "30" "362" "0" "374" "22" "c.362_374+22dup" "r.spl?" "p.?" "" "0000616242" "00021756" "30" "362" "0" "374" "22" "c.362_374+22dup" "r.spl?" "p.?" "" "0000680728" "00025865" "50" "-320" "0" "-320" "0" "c.-320A>C" "r.(?)" "p.(=)" "" "0000680728" "00021756" "50" "-320" "0" "-320" "0" "c.-320A>C" "r.(?)" "p.(=)" "" "0000826639" "00021756" "70" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Asp37Tyr)" "" "0000826641" "00021756" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Asp37Tyr)" "" "0000826642" "00021756" "90" "5" "0" "5" "0" "c.5C>G" "r.(?)" "p.(Ala2Gly)" "" "0000826730" "00021756" "90" "5" "0" "5" "0" "c.5C>G" "r.(?)" "p.(Ala2Gly)" "" "0000826733" "00021756" "90" "5" "0" "5" "0" "c.5C>G" "r.(?)" "p.(Ala2Gly)" "" "0000926368" "00025865" "30" "207" "-45" "207" "-45" "c.207-45C>T" "r.(=)" "p.(=)" "" "0000926368" "00021756" "30" "207" "-45" "207" "-45" "c.207-45C>T" "r.(=)" "p.(=)" "" "0000936613" "00025865" "90" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Gln123*)" "" "0000936613" "00021756" "90" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Gln123*)" "4" "0000936614" "00025865" "90" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Gln123*)" "" "0000936614" "00021756" "90" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Gln123*)" "" "0000982192" "00025865" "70" "33" "2" "33" "2" "c.33+2T>G" "r.spl?" "p.?" "" "0000982192" "00021756" "70" "33" "2" "33" "2" "c.33+2T>G" "r.spl?" "p.?" "" "0000982193" "00025865" "30" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(=)" "" "0000982193" "00021756" "30" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(=)" "" "0000982194" "00025865" "50" "207" "-61" "207" "-61" "c.207-61A>G" "r.(=)" "p.(=)" "" "0000982194" "00021756" "50" "207" "-61" "207" "-61" "c.207-61A>G" "r.(=)" "p.(=)" "" "0000982195" "00025865" "50" "400" "0" "400" "0" "c.400A>G" "r.(?)" "p.(Met134Val)" "" "0000982195" "00021756" "50" "403" "0" "403" "0" "c.403A>G" "r.(?)" "p.(Met135Val)" "" "0001041463" "00025865" "50" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Gly59Asp)" "" "0001041463" "00021756" "50" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Gly59Asp)" "" "0001041464" "00025865" "50" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Lys68Arg)" "" "0001041464" "00021756" "50" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Lys68Arg)" "" "0001041465" "00025865" "50" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Cys)" "" "0001041465" "00021756" "50" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000395374" "0000826639" "0000395375" "0000826641" "0000395376" "0000826642" "0000395377" "0000826730" "0000395378" "0000826733" "0000440284" "0000936613" "0000440285" "0000936614"