### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCDC115) # 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}}" "CCDC115" "coiled-coil domain containing 115" "2" "q21.1" "unknown" "NC_000002.11" "UD_136086078630" "" "https://www.LOVD.nl/CCDC115" "" "1" "28178" "84317" "613734" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-19 17:34:12" "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}}" "00004538" "CCDC115" "coiled-coil domain containing 115" "001" "NM_032357.2" "" "NP_115733.2" "" "" "" "-224" "1420" "543" "131099922" "131095816" "" "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}}" "04229" "CDG2" "glycosylation, congenital disorder of, type II (CDG-2)" "" "" "" "" "" "00006" "2015-03-20 21:54:25" "00006" "2021-12-11 13:56:28" "05241" "CDG2O" "glycosylation, congenital disorder of, type IIo (CDG-2O)" "AR" "616828" "" "" "" "00006" "2017-03-19 17:30:54" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CCDC115" "05241" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00065239" "" "" "" "3" "" "01604" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28}" "Family, 3-affected siblings, II1" "F" "yes" "Turkey" ">16y" "0" "" "" "Turkish" "26833332-Fam1PatII1" "00065243" "" "" "00065239" "1" "" "01604" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28}" "Family, 3-affected siblings, II2" "M" "yes" "Turkey" ">12y" "0" "" "" "Turkish" "26833332-Fam1PatII2" "00065244" "" "" "00065239" "1" "" "01604" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28}" "Family, 3-affected siblings, II4" "F" "yes" "Turkey" ">04y" "0" "" "" "Turkish" "26833332-Fam1PatII4" "00065245" "" "" "" "1" "" "01604" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28}" "only child" "M" "no" "Italy" ">08y" "0" "" "zinc treatment" "Italian" "26833332-Fam2PatII1" "00065247" "" "" "" "1" "" "01604" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28}" "Family, 1-unaffected brother, II2" "F" "no" "France" ">27y" "0" "" "Phototherapy, risperidone and lamotrigine" "French" "26833332-Fam3PatII2" "00065249" "" "" "" "2" "" "01604" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28}" "Family, 2-affected siblings, F4-II1" "M" "yes" "Turkey" "09y" "0" "" "" "Turkish" "26833332-Fam4PatII1" "00065251" "" "" "00065249" "1" "" "01604" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28}" "Family, 2-affected siblings, F4-II2" "F" "yes" "Turkey" ">13y" "0" "" "Liver transplantation" "Turkish" "26833332-Fam4PatII2" "00065252" "" "" "" "1" "" "01604" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28}" "Only child" "F" "no" "Portugal" "00y07m" "0" "" "" "Portuguese" "26833332-Fam5PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00065239" "04229" "00065243" "04229" "00065244" "04229" "00065245" "04229" "00065247" "04229" "00065249" "04229" "00065251" "04229" "00065252" "04229" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04229, 05241 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000051348" "04229" "00065239" "01604" "Familial, autosomal recessive" "09y" "Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), low ceruloplasmin (HP:0010837), hepatomegaly (HP:0002240), generalized hypotonia (HP:0001290), psychomotor disability (HP:0001263), mild dysmorphic features (HP:0001999)" "" "" "" "" "" "" "" "" "" "0000051350" "04229" "00065243" "01604" "Familial, autosomal recessive" "05y" "Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), low ceruloplasmin (HP:0010837), hepatomegaly (HP:0002240), generalized hypotonia (HP:0001290), psychomotor disability (HP:0001263), mild dysmorphic features (HP:0001999), long face (HP:0000276), ptosis (HP:0000508), blue sclerae (HP:0000592), down-slanted palpebral fissures (HP:0000494), muscle atrophy (HP:0003202)" "" "" "" "" "" "" "" "" "" "0000051351" "04229" "00065244" "01604" "Familial, autosomal recessive" "02y" "Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), low ceruloplasmin (HP:0010837), hepatomegaly (HP:0002240), no generalized hypotonia (-HP:0001290), psychomotor disability (HP:0001263)" "" "" "" "" "" "" "" "" "" "0000051352" "04229" "00065245" "01604" "Familial, autosomal recessive" "" "Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), low ceruloplasmin (HP:0010837), hepatomegaly (HP:0002240), no generalized hypotonia (-HP:0001290), psychomotor disability (HP:0001263), mild dysmorphic features (HP:0001999), copper accumulation (HP:?)" "00y00m" "" "prolonged neonatal jaundice (HP:0006579)" "" "" "" "" "" "" "0000051354" "04229" "00065247" "01604" "Familial, autosomal recessive" "" "Abnormal protein N-linked glycosylation (HP:0012347), no abnormal protein O-linked glycosylation (-HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), low ceruloplasmin (HP:0010837), no hepatomegaly (-HP:0002240), hypotonia (HP:0001252), psychomotor disability (HP:0001263), fibrosis (HP:0001395), steatosis (HP:0001397), necrotic lesions (HP:?), seizures (HP:0001250), hypercholesterolemia (HP:0003124), behavioral problems (HP:0000708), aggressiveness (HP:0000718), agitation (HP:0000713), psychotic behavior (HP:0000725)" "00y00m" "" "neonatal jaundice (HP:0006579)" "" "" "" "" "" "" "0000051356" "04229" "00065249" "01604" "Familial, autosomal recessive" "" "Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), hypotonia (HP:0001252), liver failure (HP:0001399), mild dysmorphic features (HP:0001999), mild psychomotor disability (HP:0001263)" "00y00m" "" "neonatal jaundice (HP:0006579)" "" "" "" "" "" "" "0000051358" "04229" "00065251" "01604" "Familial, autosomal recessive" "" "Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), mild dysmorphic features (HP:0001999), liver failure (HP:0001399)" "" "" "" "" "" "" "" "" "" "0000051361" "04229" "00065252" "01604" "Familial, autosomal recessive" "" "Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), hepatomegaly (HP:0002240), generalized hypotonia (HP:0001290), no psychomotor disability (-HP:0001263), failure to thrive (HP:0001508), redundant skin (HP:0001582), poor muscle volume (HP:?), hypoglycemia (HP:0001943), hyperammonemia (HP:0001987), progressive cholestatic liver disease (HP:0002611), liver failure (HP:0001399), hypercholesterolemia (HP:0003124), abnormal coagulation factors (HP:?), anemia (HP:0001903)" "00y00m" "" "neonatal jaundice (HP:0006579)" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065393" "00065239" "1" "01604" "01604" "2016-05-24 10:46:27" "" "" "MLPA-ms;MS;SEQ;SEQ-NG-R;Western" "DNA" "" "" "0000065395" "00065243" "1" "01604" "01604" "2016-05-24 11:00:37" "" "" "MLPA-ms;MS;SEQ;SEQ-NG-R;Western" "DNA" "" "" "0000065396" "00065244" "1" "01604" "01604" "2016-05-24 11:04:24" "" "" "MLPA-ms;MS;SEQ;SEQ-NG-R;Western" "DNA" "" "" "0000065397" "00065245" "1" "01604" "01604" "2016-05-24 11:13:21" "" "" "MLPA-ms;MS;SEQ;SEQ-NG-R;Western" "DNA" "" "" "0000065399" "00065247" "1" "01604" "01604" "2016-05-24 11:39:06" "" "" "MLPA-ms;MS;SEQ;SEQ-NG-R;Western" "DNA" "" "" "0000065401" "00065249" "1" "01604" "01604" "2016-05-24 11:55:50" "" "" "MLPA-ms;MS;SEQ;SEQ-NG-R;Western" "DNA" "" "" "0000065403" "00065251" "1" "01604" "01604" "2016-05-24 12:04:37" "" "" "MLPA-ms;MS;SEQ;SEQ-NG-R;Western" "DNA" "" "" "0000065406" "00065252" "1" "01604" "01604" "2016-05-24 12:21:14" "" "" "MLPA-ms;MS;SEQ;SEQ-NG-R;Western" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000065393" "CCDC115" "0000065395" "CCDC115" "0000065396" "CCDC115" "0000065397" "CCDC115" "0000065399" "CCDC115" "0000065401" "CCDC115" "0000065403" "CCDC115" "0000065406" "CCDC115" ## 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 = 16 "{{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}}" "0000097067" "3" "90" "2" "131099607" "131099607" "subst" "8.14857E-6" "01604" "CCDC115_000002" "g.131099607A>G" "" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010}" "" "" "" "Germline" "" "" "0" "" "" "g.130342034A>G" "" "pathogenic" "" "0000097068" "3" "90" "2" "131099607" "131099607" "subst" "8.14857E-6" "01604" "CCDC115_000002" "g.131099607A>G" "" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010}" "" "" "" "Germline" "" "" "0" "" "" "g.130342034A>G" "" "pathogenic" "" "0000097069" "3" "90" "2" "131099607" "131099607" "subst" "8.14857E-6" "01604" "CCDC115_000002" "g.131099607A>G" "" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010}" "" "" "" "Germline" "" "" "0" "" "" "g.130342034A>G" "" "pathogenic" "" "0000097070" "3" "90" "2" "131099607" "131099607" "subst" "8.14857E-6" "01604" "CCDC115_000002" "g.131099607A>G" "" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010}" "" "" "" "Germline" "" "" "0" "" "" "g.130342034A>G" "" "pathogenic" "" "0000097072" "3" "90" "2" "131099607" "131099607" "subst" "8.14857E-6" "01604" "CCDC115_000002" "g.131099607A>G" "" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010}" "" "" "" "Germline" "" "" "0" "" "" "g.130342034A>G" "" "pathogenic" "" "0000097074" "3" "90" "2" "131099668" "131099668" "subst" "0" "01604" "CCDC115_000001" "g.131099668C>A" "" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010}" "" "" "" "Germline" "" "" "0" "" "" "g.130342095C>A" "" "pathogenic" "" "0000097076" "3" "90" "2" "131099668" "131099668" "subst" "0" "01604" "CCDC115_000001" "g.131099668C>A" "" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010}" "" "" "" "Germline" "" "" "0" "" "" "g.130342095C>A" "" "pathogenic" "" "0000097079" "21" "90" "2" "131099607" "131099607" "subst" "8.14857E-6" "01604" "CCDC115_000002" "g.131099607A>G" "" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010}" "" "" "" "Germline" "" "" "0" "" "" "g.130342034A>G" "" "pathogenic" "" "0000097083" "11" "90" "2" "131096872" "131116671" "" "0" "01604" "CCDC115_000003" "g.(130939272_131096872)_(131116671_?)del" "" "{PMID:Jansen 2016:26833332}, {DOI:Jansen 2016:10.1016/j.ajhg.2015.12.010}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000688315" "0" "50" "2" "131096744" "131096744" "subst" "0" "01943" "CCDC115_000006" "g.131096744C>G" "" "" "" "CCDC115(NM_001321118.1):c.477G>C (p.Q159H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717836" "0" "90" "2" "131098577" "131098577" "subst" "0" "01943" "CCDC115_000007" "g.131098577C>A" "" "" "" "CCDC115(NM_001321118.1):c.319G>T (p.E107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848946" "0" "90" "2" "131099680" "131099680" "subst" "1.2198E-5" "01943" "CCDC115_000008" "g.131099680G>A" "" "" "" "CCDC115(NM_032357.4):c.19C>T (p.R7*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974280" "0" "50" "2" "131098505" "131098505" "subst" "0.000272256" "01804" "CCDC115_000009" "g.131098505G>C" "" "" "" "CCDC115(NM_032357.4):c.406C>G (p.(Gln136Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974281" "0" "50" "2" "131099606" "131099606" "subst" "0.000925043" "01804" "CCDC115_000010" "g.131099606C>G" "" "" "" "CCDC115(NM_032357.4):c.93G>C (p.(Leu31Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032364" "0" "50" "2" "131099698" "131099698" "subst" "3.25148E-5" "01804" "CCDC115_000011" "g.131099698T>C" "" "" "" "CCDC115(NM_032357.4):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032365" "0" "50" "2" "131099787" "131099787" "subst" "0" "01804" "CCDC115_000012" "g.131099787C>T" "" "" "" "CCDC115(NM_001321118.1):c.16G>A (p.(Asp6Asn))" "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 CCDC115 ## Count = 16 "{{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}}" "0000097067" "00004538" "90" "92" "0" "92" "0" "c.92T>C" "r.(?)" "p.(Leu31Ser)" "1" "0000097068" "00004538" "90" "92" "0" "92" "0" "c.92T>C" "r.(?)" "p.(Leu31Ser)" "1" "0000097069" "00004538" "90" "92" "0" "92" "0" "c.92T>C" "r.(?)" "p.(Leu31Ser)" "1" "0000097070" "00004538" "90" "92" "0" "92" "0" "c.92T>C" "r.(?)" "p.(Leu31Ser)" "1" "0000097072" "00004538" "90" "92" "0" "92" "0" "c.92T>C" "r.(?)" "p.(Leu31Ser)" "1" "0000097074" "00004538" "90" "31" "0" "31" "0" "c.31G>T" "r.(?)" "p.(Asp11Tyr)" "1" "0000097076" "00004538" "90" "31" "0" "31" "0" "c.31G>T" "r.(?)" "p.(Asp11Tyr)" "1" "0000097079" "00004538" "90" "92" "0" "92" "0" "c.92T>C" "r.(?)" "p.(Leu31Ser)" "1" "0000097083" "00004538" "90" "-258" "0" "1788" "0" "c.(?_-258)_(*1245_?)del" "r.0" "p.0" "_1_5_" "0000688315" "00004538" "50" "492" "0" "492" "0" "c.492G>C" "r.(?)" "p.(Gln164His)" "" "0000717836" "00004538" "90" "334" "0" "334" "0" "c.334G>T" "r.(?)" "p.(Glu112*)" "" "0000848946" "00004538" "90" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Arg7*)" "" "0000974280" "00004538" "50" "406" "0" "406" "0" "c.406C>G" "r.(?)" "p.(Gln136Glu)" "" "0000974281" "00004538" "50" "93" "0" "93" "0" "c.93G>C" "r.(?)" "p.(Leu31Phe)" "" "0001032364" "00004538" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "0001032365" "00004538" "50" "-89" "0" "-89" "0" "c.-89G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000065393" "0000097067" "0000065395" "0000097068" "0000065396" "0000097069" "0000065397" "0000097070" "0000065399" "0000097072" "0000065401" "0000097074" "0000065403" "0000097076" "0000065406" "0000097079" "0000065406" "0000097083"