### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NRCAM) # 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}}" "NRCAM" "neuronal cell adhesion molecule" "7" "q31" "unknown" "NG_029898.2" "UD_132084418626" "" "https://www.LOVD.nl/NRCAM" "" "1" "7994" "4897" "601581" "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/NRCAM_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-14 10:41:29" "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}}" "00014804" "NRCAM" "transcript variant 1" "005" "NM_001037132.2" "" "NP_001032209.1" "" "" "" "-106" "6199" "3915" "107880614" "107788071" "" "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}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05992" "CHAPLE" "Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy" "AR" "226300" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NRCAM" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00402898" "" "" "00402908" "1" "" "00006" "{PMID:Kurolap 2017:28657861}, {PMID:Kurolap 2022:35108495}" "multi-generation family, 1 NDD affected, unaffected heterozygous carrier parents" "M" "yes" "Israel" "" "0" "" "" "Muslim Arab" "Fam;Pat1" "00402899" "" "" "" "1" "" "00006" "{PMID:Kurolap 2022:35108495}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Israel" "1y9m" "0" "" "" "Muslim Arab" "Pat2" "00402900" "" "" "" "1" "" "00006" "{PMID:Kurolap 2022:35108495}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "Europe;China" "Pat3" "00402901" "" "" "" "1" "" "00006" "{PMID:Kurolap 2022:35108495}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "Amish" "Pat4" "00402902" "" "" "" "1" "" "00006" "{PMID:Kurolap 2022:35108495}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Australia" "" "0" "" "" "Europe" "Pat5" "00402903" "" "" "" "2" "" "00006" "{PMID:Kurolap 2022:35108495}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "Israel" "" "0" "" "" "Jewish;Libya" "FamPat6a" "00402904" "" "" "00402903" "1" "" "00006" "{PMID:Kurolap 2022:35108495}" "brother" "M" "yes" "Israel" "" "0" "" "" "Jewish;Libya" "FamPat6b" "00402905" "" "" "" "1" "" "00006" "{PMID:Kurolap 2022:35108495}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Canada" "" "0" "" "" "Europe/Asia;America-N" "Pat7" "00402906" "" "" "" "2" "" "00006" "{PMID:Kurolap 2022:35108495}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "Turkey" "FamPat8a" "00402907" "" "" "00402906" "1" "" "00006" "{PMID:Kurolap 2022:35108495}" "brother" "M" "yes" "Turkey" "" "0" "" "" "Turkey" "FamPat8b" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00402898" "05611" "00402898" "05992" "00402899" "05611" "00402900" "05611" "00402901" "05611" "00402902" "05611" "00402903" "05611" "00402904" "05611" "00402905" "05611" "00402906" "05611" "00402907" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611, 05992 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000295649" "05611" "00402898" "00006" "Familial, autosomal recessive" "5y" "polyhydramnios; bi-temporal narrowing, plagiocephaly, bushy eyebrows with medial flaring, long eyelashes, depressed nasal bridge, cupid bowed lips, micrognathia; severe global developmental delay; self-injurious behavior; weight -2.4 SD, height -2.5 SD; microcephaly (OFC -3.5 SD); axial hypotonia, mild motor-sensory demyelinating polyneuropathy; MRI brain hydrocephalus, thin corpus callosum, partially shifted vermis; optic atrophy, abnormal visual-evoked potential, exotropia; abnormal brain-stem-evoked response auditory; congenital hip dysplasia, severe scoliosis, pes cavus, tapering fingers; oxygen supplementation, gastrostomy feeding, cryptorchidism, CD55-deficiency" "1d" "" "" "" "" "" "" "neurodevelopmental delay" "0000295650" "05611" "00402899" "00006" "Familial, autosomal recessive" "21m" "21m-deceased; intrauterine growth restriction; round facies, infra-lateral periorbital fullness, mild synophrys, deeply grooved philtrum, tented mouth, vaulted palate, micrognathia; severe global developmental delay; normal growth; microcephaly OFC (-2.6 SD); axial and peripheral hypotonia, decreased deep tendon reflexes, laryngomalacia; MRI brain normal; mild hyperopia; mild hearing loss; oxygen supplementation, gastrostomy feeding, severe gastresophageal reflux disease" "1d" "" "" "" "" "" "" "neurodevelopmental delay" "0000295651" "05611" "00402900" "00006" "Familial, autosomal recessive" "24y" "no perinatal findings; coarse facies, bushy eyebrows, elongated face, hypertelorism, upslanting palpebral fissures, flat nasal bridge, small nose, micrognathia; severe intellectual disability, autism spectrum disorder; irritability, self-injurious behavior; weight -2.32 SD, height -2.75 SD; microcephaly (OFC -3.09 SD); hypertonia of all extremities, decreased muscle bulk, ataxia, abnormal EEG w/o apparent seizures; MRI brain bilateral periventricular leukomalacia, partially empty sella, subependymal nodular gray matter heterotopia, bil hypo-/delayed myelination, hypoplastic pituitary gland; bilateral retinal detachment, cataract; severe scoliosis, left acetabulum dysplasia, bil hip dysplasia, bilateral coxa valga, pes planus; bilateral cryptorchidism, two large hypopigmented macules" "1d" "" "" "" "" "" "" "neurodevelopmental delay" "0000295652" "05611" "00402901" "00006" "Familial, autosomal recessive" "8y" "no perinatal findings; tented upper lip, prominent cheeks; global developmental delay; anxiety, irritability, aggression; normal growth; OFC normal; hypotonia, ataxia; MRI brain normal; mild myopia with astigmatism, optic cupping; abnormal brain-stem-evoked response auditory; pes planus" "1d" "" "" "" "" "" "" "neurodevelopmental delay" "0000295653" "05611" "00402902" "00006" "Familial, autosomal recessive" "14y" "premature membrane rupture; no dysmorphism; global developmental delay; normal weight; severe hypertonia, spastic quadriplegic cerebral palsy, prominent jaw jerk; MRI brain bilateral periventricular leukomalacia with reduced white matter volume, thinned corpus callosum and elements of delayed myelination; strabismus with accommodative/alternating esotropia; no hearing loss; hip dysplasia, subluxing hips;" "1d" "" "" "" "" "" "" "neurodevelopmental delay" "0000295654" "05611" "00402903" "00006" "Familial, autosomal recessive" "41y" "no perinatal findings; intellectual disability, motor delay; spastic-dystonic paraplegic cerebral palsy; MRI brain ventriculomegaly, colpocephaly, elongation of the left Sylvian fissure to the periventricular white matter; precocious puberty, 3y-leukemia" "1d" "" "" "" "" "" "" "neurodevelopmental delay" "0000295655" "05611" "00402904" "00006" "Familial, autosomal recessive" "31y" "no perinatal findings; intellectual disability, motor delay; spastic-dystonic paraplegic cerebral palsy, 5y-epilepsy; MRI brain mild ventriculomegaly; scoliosis" "1d" "" "" "" "" "" "" "neurodevelopmental delay" "0000295656" "05611" "00402905" "00006" "Familial, autosomal recessive" "5y" "polyhydramnios; mildly hypotonic facies, posteriorly rotated ears, small chin, high arched palate; gross developmental delay, fine motor delays (improved); normal growth; OFC normal; distal arthrogryposis (improved), axial hypotonia, non-specific myopathy, tracheomalacia, vocal cord paralysis (improved); MRI brain normal; ophthalmology normal; no hearing loss; bilateral hip dislocation; oxygen supplementation and tracheostomy (resolved), cryptorchidism, gastrostomy feeding (improved), constipation" "1d" "" "" "" "" "" "" "neurodevelopmental delay" "0000295657" "05611" "00402906" "00006" "Familial, autosomal recessive" "31y" "no perinatal findings; no dysmorphism; no developmental delay; normal behavior; normal growth; motor neuropathy with secondary myopathic involvement; MRI brain arachnoid cyst of the posterior fossa; cataract; no hearing loss; severe scoliosis, pes cavus, hammer toes; CPKemia" "20y" "" "" "" "" "" "" "neurodevelopmental delay" "0000295658" "05611" "00402907" "00006" "Familial, autosomal recessive" "27y" "no perinatal findings; no dysmorphism; no developmental delay; normal behavior; normal growth; motor neuropathy with secondary myopathic involvement; ophthalmology normal; no hearing loss; severe scoliosis, pes cavus, hammer toes; CPKemia" "15y" "" "" "" "" "" "" "neurodevelopmental delay" "0000295660" "05992" "00402898" "00006" "Familial, autosomal recessive" "" "see paper; ..., protein-losing enteropathy, hypercoagulopathy" "" "" "" "" "" "" "" "protein-losing enteropathy" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000404139" "00402898" "1" "00006" "00006" "2022-02-14 10:40:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404140" "00402899" "1" "00006" "00006" "2022-02-14 10:40:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404141" "00402900" "1" "00006" "00006" "2022-02-14 10:40:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404142" "00402901" "1" "00006" "00006" "2022-02-14 10:40:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404143" "00402902" "1" "00006" "00006" "2022-02-14 10:40:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404144" "00402903" "1" "00006" "00006" "2022-02-14 10:40:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404145" "00402904" "1" "00006" "00006" "2022-02-14 10:40:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404146" "00402905" "1" "00006" "00006" "2022-02-14 10:40:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404147" "00402906" "1" "00006" "00006" "2022-02-14 10:40:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404148" "00402907" "1" "00006" "00006" "2022-02-14 10:40:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 22 "{{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}}" "0000839751" "3" "90" "7" "107820733" "107820733" "subst" "0" "00006" "NRCAM_000001" "g.107820733G>A" "" "{PMID:Kurolap 2022:35108495}" "" "" "carries concomitant homozygous loss-of-function variant in CD55" "Germline" "" "" "0" "" "" "g.108180289G>A" "" "pathogenic (recessive)" "" "0000839752" "3" "90" "7" "107872866" "107872866" "subst" "0" "00006" "NRCAM_000010" "g.107872866C>A" "" "{PMID:Kurolap 2022:35108495}" "" "" "" "Germline" "" "" "0" "" "" "g.108232422C>A" "" "pathogenic (recessive)" "" "0000839753" "21" "70" "7" "107875093" "107875093" "subst" "4.06805E-6" "00006" "NRCAM_000012" "g.107875093T>C" "" "{PMID:Kurolap 2022:35108495}" "" "" "" "Germline" "" "" "0" "" "" "g.108234649T>C" "" "likely pathogenic (recessive)" "" "0000839754" "11" "70" "7" "107822355" "107822355" "subst" "0.000215426" "00006" "NRCAM_000005" "g.107822355G>A" "" "{PMID:Kurolap 2022:35108495}" "" "" "" "Germline" "" "" "0" "" "" "g.108181911G>A" "" "likely pathogenic (recessive)" "" "0000839755" "11" "70" "7" "107836262" "107836262" "subst" "0.000219616" "00006" "NRCAM_000007" "g.107836262T>C" "" "{PMID:Kurolap 2022:35108495}" "" "" "" "Germline" "" "" "0" "" "" "g.108195818T>C" "" "likely pathogenic (recessive)" "" "0000839756" "3" "70" "7" "107866783" "107866783" "subst" "1.62982E-5" "00006" "NRCAM_000008" "g.107866783C>T" "" "{PMID:Kurolap 2022:35108495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.108226339C>T" "" "likely pathogenic (recessive)" "" "0000839757" "3" "70" "7" "107866783" "107866783" "subst" "1.62982E-5" "00006" "NRCAM_000008" "g.107866783C>T" "" "{PMID:Kurolap 2022:35108495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.108226339C>T" "" "likely pathogenic (recessive)" "" "0000839758" "11" "90" "7" "107824687" "107824692" "delins" "0" "00006" "NRCAM_000006" "g.107824687_107824692delinsGA" "" "{PMID:Kurolap 2022:35108495}" "" "" "" "Germline" "" "" "0" "" "" "g.108184243_108184248delinsGA" "" "pathogenic (recessive)" "" "0000839759" "3" "70" "7" "107872797" "107872797" "subst" "0" "00006" "NRCAM_000009" "g.107872797A>G" "" "{PMID:Kurolap 2022:35108495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.108232353A>G" "" "likely pathogenic (recessive)" "" "0000839760" "3" "70" "7" "107872797" "107872797" "subst" "0" "00006" "NRCAM_000009" "g.107872797A>G" "" "{PMID:Kurolap 2022:35108495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.108232353A>G" "" "likely pathogenic (recessive)" "" "0000839761" "11" "70" "7" "107874203" "107874203" "subst" "0" "00006" "NRCAM_000011" "g.107874203C>G" "" "{PMID:Kurolap 2022:35108495}" "" "" "predicted activation cryptic acceptor site and new exon inclusion" "Germline" "" "" "0" "" "" "g.108233759C>G" "" "likely pathogenic (recessive)" "" "0000839762" "21" "70" "7" "107820813" "107820813" "subst" "0.000333044" "00006" "NRCAM_000003" "g.107820813T>G" "" "{PMID:Kurolap 2022:35108495}" "" "" "" "Germline" "" "" "0" "" "" "g.108180369T>G" "" "likely pathogenic (recessive)" "" "0000839763" "21" "70" "7" "107820780" "107820780" "subst" "0" "00006" "NRCAM_000002" "g.107820780C>T" "" "{PMID:Kurolap 2022:35108495}" "" "" "" "Germline" "" "" "0" "" "" "g.108180336C>T" "" "likely pathogenic (recessive)" "" "0000839764" "21" "90" "7" "107820873" "107820873" "subst" "0" "00006" "NRCAM_000004" "g.107820873T>C" "" "{PMID:Kurolap 2022:35108495}" "" "" "" "Germline" "" "" "0" "" "" "g.108180429T>C" "" "pathogenic (recessive)" "" "0000977466" "0" "30" "7" "107799996" "107799996" "subst" "2.85318E-5" "01804" "NRCAM_000013" "g.107799996G>A" "" "" "" "NRCAM(NM_001037132.4):c.3599-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977467" "0" "50" "7" "107822351" "107822351" "subst" "0.00048348" "01804" "NRCAM_000014" "g.107822351A>G" "" "" "" "NRCAM(NM_001037132.4):c.2561T>C (p.(Val854Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996130" "0" "50" "7" "107836274" "107836274" "subst" "4.06752E-6" "01804" "NRCAM_000015" "g.107836274T>C" "" "" "" "NRCAM(NM_001037132.2):c.1394A>G (p.(Gln465Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996131" "0" "50" "7" "107866736" "107866736" "subst" "8.15634E-6" "01804" "NRCAM_000016" "g.107866736G>A" "" "" "" "NRCAM(NM_001037132.2):c.637C>T (p.(Arg213Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036065" "0" "50" "7" "107790488" "107790488" "subst" "0.000117939" "01804" "NRCAM_000017" "g.107790488C>T" "" "" "" "NRCAM(NM_001037132.4):c.3782G>A (p.(Gly1261Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036066" "0" "50" "7" "107822355" "107822355" "subst" "0.000215426" "01804" "NRCAM_000005" "g.107822355G>A" "" "" "" "NRCAM(NM_001037132.4):c.2557C>T (p.(Arg853Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036067" "0" "30" "7" "107912110" "107912110" "subst" "0" "01804" "NRCAM_000018" "g.107912110C>T" "" "" "" "NRCAM(NM_001371171.1):c.-204-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052801" "0" "50" "7" "107808857" "107808857" "subst" "6.73976E-5" "01804" "NRCAM_000019" "g.107808857C>T" "" "" "" "NRCAM(NM_001037132.4):c.3188-10G>A" "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 NRCAM ## Count = 22 "{{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}}" "0000839751" "00014804" "90" "2785" "0" "2785" "0" "c.2785C>T" "r.(?)" "p.(Arg929Ter)" "" "0000839752" "00014804" "90" "331" "0" "331" "0" "c.331G>T" "r.(?)" "p.(Glu111Ter)" "" "0000839753" "00014804" "70" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(Asp55Gly)" "" "0000839754" "00014804" "70" "2557" "0" "2557" "0" "c.2557C>T" "r.(?)" "p.(Arg853Cys)" "" "0000839755" "00014804" "70" "1406" "0" "1406" "0" "c.1406A>G" "r.(?)" "p.(Asn469Ser)" "" "0000839756" "00014804" "70" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Gly197Asp)" "" "0000839757" "00014804" "70" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Gly197Asp)" "" "0000839758" "00014804" "90" "2297" "0" "2302" "0" "c.2297_2302delinsTC" "r.(?)" "p.(Thr766IlefsTer4)" "" "0000839759" "00014804" "70" "400" "0" "400" "0" "c.400T>C" "r.(?)" "p.(Ser134Pro)" "" "0000839760" "00014804" "70" "400" "0" "400" "0" "c.400T>C" "r.(?)" "p.(Ser134Pro)" "" "0000839761" "00014804" "70" "230" "824" "230" "824" "c.230+824G>C" "r.spl" "p.?" "" "0000839762" "00014804" "70" "2705" "0" "2705" "0" "c.2705A>C" "r.(?)" "p.(Lys902Thr)" "" "0000839763" "00014804" "70" "2738" "0" "2738" "0" "c.2738G>A" "r.(?)" "p.(Gly913Asp)" "" "0000839764" "00014804" "90" "2647" "-2" "2647" "-2" "c.2647-2A>G" "r.spl" "p.(Ile883SerfsTer8)" "" "0000977466" "00014804" "30" "3599" "-10" "3599" "-10" "c.3599-10C>T" "r.(=)" "p.(=)" "" "0000977467" "00014804" "50" "2561" "0" "2561" "0" "c.2561T>C" "r.(?)" "p.(Val854Ala)" "" "0000996130" "00014804" "50" "1394" "0" "1394" "0" "c.1394A>G" "r.(?)" "p.(Gln465Arg)" "" "0000996131" "00014804" "50" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213Cys)" "" "0001036065" "00014804" "50" "3782" "0" "3782" "0" "c.3782G>A" "r.(?)" "p.(Gly1261Glu)" "" "0001036066" "00014804" "50" "2557" "0" "2557" "0" "c.2557C>T" "r.(?)" "p.(Arg853Cys)" "" "0001036067" "00014804" "30" "-31602" "0" "-31602" "0" "c.-31602G>A" "r.(?)" "p.(=)" "" "0001052801" "00014804" "50" "3188" "-10" "3188" "-10" "c.3188-10G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000404139" "0000839751" "0000404140" "0000839752" "0000404141" "0000839753" "0000404141" "0000839761" "0000404142" "0000839754" "0000404142" "0000839762" "0000404143" "0000839755" "0000404143" "0000839763" "0000404144" "0000839756" "0000404145" "0000839757" "0000404146" "0000839758" "0000404146" "0000839764" "0000404147" "0000839759" "0000404148" "0000839760"