### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = JKAMP) # 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}}" "JKAMP" "JNK1/MAPK8-associated membrane protein" "14" "q22.3" "unknown" "NC_000014.8" "UD_136021549129" "" "https://www.LOVD.nl/JKAMP" "" "1" "20184" "51528" "611176" "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" "2026-03-10 15:21:57" "00006" "2026-03-11 18:08:29" ## 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}}" "00026067" "JKAMP" "transcript variant 1" "001" "NM_016475.3" "" "NP_057559.2" "" "" "" "-147" "2227" "936" "59951161" "59972081" "00006" "2026-03-10 14:15:27" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00474074" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Italy" "" "0" "" "" "Europe" "Fam1PatII1" "00474075" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "3-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "Palestine" "" "0" "" "" "Arab;muslim" "Fam2PatIII1" "00474076" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "brother" "M" "yes" "Palestine" "" "0" "" "" "Arab" "Fam2PatIII2" "00474077" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "Europe" "Fam3PatII4" "00474078" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Fam4PatII1" "00474079" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "6-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Switzerland" "" "0" "" "" "Europe" "Fam5PatVI3" "00474080" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Fam6PatII1" "00474081" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "brother" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Fam6PatII2" "00474082" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "F" "yes" "United States" "" "0" "" "" "Europe;Mennonite" "Fam7PatII1" "00474083" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "sister" "F" "yes" "United States" "" "0" "" "" "Europe;Mennonite" "Fam7PatII2" "00474084" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "brother" "M" "yes" "United States" "" "0" "" "" "Europe;Mennonite" "Fam7PatII3" "00474085" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Germany;Ireland" "" "0" "" "" "Europe" "Fam8PatII1" "00474086" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "France" "" "0" "" "" "Arab" "Fam9PatII1" "00474087" "" "" "" "1" "" "00006" "{PMID:Chacon-Millan 2026:41643666}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Ukraine" "" "0" "" "" "Europe" "Fam10PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00474074" "05611" "00474075" "05611" "00474076" "05611" "00474077" "05611" "00474078" "05611" "00474079" "05611" "00474080" "05611" "00474081" "05611" "00474082" "05611" "00474083" "05611" "00474084" "05611" "00474085" "05611" "00474086" "05611" "00474087" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 14 "{{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}}" "0000358874" "05611" "00474074" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., speech delay; motor delay; seizures; hypotonia; cardiac anomalies; MRI brain normal (hemosiderin deposit); microcephaly; no visual impairment; no skeletal abnormalities; facial dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000358875" "05611" "00474075" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain mild cortical atrophy, delayed myelination; microcephaly; no visual impairment; no skeletal abnormalities; facial dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000358876" "05611" "00474076" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain mild cortical atrophy, delayed myelination; microcephaly; no visual impairment; no skeletal abnormalities; facial dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000358877" "05611" "00474077" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., speech delay; motor delay; seizures; no hypotonia; no cardiac anomalies; MRI brain mild cerebral atrophy; microcephaly; visual impairment; no skeletal abnormalities; facial dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000358878" "05611" "00474078" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain global brain atrophy, delayed myelination, bilateral choroid plexus cysts; visual impairment; no skeletal abnormalities; facial dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000358879" "05611" "00474079" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., deceased; speech delay; motor delay; seizures; hypotonia; MRI brain mild dilatation of frontal liquor spaces, delayed myelination; no visual impairment; skeletal abnormalities; facial dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000358880" "05611" "00474080" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain global cerebral atrophy; microcephaly; no visual impairment; no skeletal abnormalities; facial dysmorphisms; cryptorchidism, hypospadias" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000358881" "05611" "00474081" "00006" "Familial, autosomal recessive" "10m" "see paper; ..., deceased; speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain global cerebral atrophy; no visual impairment; no skeletal abnormalities; facial dysmorphisms; cryptorchidism, hypospadias" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000358882" "05611" "00474082" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., deceased; speech delay; motor delay; seizures; hypotonia; cardiac anomalies; MRI brain diffuse cerebral atrophy; microcephaly; no visual impairment; no skeletal abnormalities; facial dysmorphisms; micropenis" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000358883" "05611" "00474083" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain global cerebral atrophy, diffuse demyelinating disease; microcephaly; visual impairment; no skeletal abnormalities; facial dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000358884" "05611" "00474084" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain mild atrophy; microcephaly; no visual impairment; no skeletal abnormalities; facial dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000358885" "05611" "00474085" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; no visual impairment; skeletal abnormalities; facial dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000358886" "05611" "00474086" "00006" "Familial, autosomal recessive" "18m" "see paper; ..., speech delay; motor delay; seizures; hypotonia; cardiac anomalies; MRI brain normal; microcephaly; visual impairment; no skeletal abnormalities; facial dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000358887" "05611" "00474087" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain mild cortical atrophy, delayed myelination; no visual impairment; skeletal abnormalities; facial dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000475744" "00474074" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475745" "00474075" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475746" "00474076" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475747" "00474077" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475748" "00474078" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475749" "00474079" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475750" "00474080" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475751" "00474081" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475752" "00474082" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475753" "00474083" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475754" "00474084" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475755" "00474085" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475756" "00474086" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475757" "00474087" "1" "00006" "00006" "2026-03-10 15:28:02" "" "" "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 = 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}}" "0001070298" "1" "70" "14" "59961864" "59961864" "subst" "0" "00006" "JKAMP_000003" "g.59961864A>G" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59495146A>G" "SCV006275840" "likely pathogenic (recessive)" "" "0001070299" "3" "90" "14" "59970725" "59970725" "dup" "0" "00006" "JKAMP_000008" "g.59970725dup" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59504007dup" "SCV006275841" "pathogenic (recessive)" "" "0001070300" "3" "90" "14" "59970725" "59970725" "dup" "0" "00006" "JKAMP_000008" "g.59970725dup" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59504007dup" "SCV006275841" "pathogenic (recessive)" "" "0001070301" "3" "90" "14" "59954538" "59954538" "dup" "0" "00006" "JKAMP_000002" "g.59954538dup" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59487820dup" "SCV006279772" "pathogenic (recessive)" "" "0001070302" "3" "90" "14" "59954538" "59954538" "dup" "0" "00006" "JKAMP_000002" "g.59954538dup" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59487820dup" "SCV006279772" "pathogenic (recessive)" "" "0001070303" "3" "90" "14" "59954538" "59954538" "dup" "0" "00006" "JKAMP_000002" "g.59954538dup" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59487820dup" "SCV006279772" "pathogenic (recessive)" "" "0001070304" "3" "70" "14" "59954405" "59954405" "subst" "0" "00006" "JKAMP_000001" "g.59954405G>A" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59487687G>A" "SCV006279837" "likely pathogenic (recessive)" "" "0001070305" "3" "70" "14" "59954405" "59954405" "subst" "0" "00006" "JKAMP_000001" "g.59954405G>A" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59487687G>A" "SCV006279837" "likely pathogenic (recessive)" "" "0001070306" "3" "90" "14" "59954538" "59954538" "dup" "0" "00006" "JKAMP_000002" "g.59954538dup" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59487820dup" "SCV006279772" "pathogenic (recessive)" "" "0001070307" "3" "90" "14" "59954538" "59954538" "dup" "0" "00006" "JKAMP_000002" "g.59954538dup" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59487820dup" "SCV006279772" "pathogenic (recessive)" "" "0001070308" "3" "90" "14" "59954538" "59954538" "dup" "0" "00006" "JKAMP_000002" "g.59954538dup" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59487820dup" "SCV006279772" "pathogenic (recessive)" "" "0001070309" "1" "70" "14" "59961927" "59961927" "subst" "0" "00006" "JKAMP_000004" "g.59961927A>G" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59495209A>G" "SCV006279838" "likely pathogenic (recessive)" "" "0001070310" "3" "90" "14" "59965627" "59965627" "subst" "0" "00006" "JKAMP_000007" "g.59965627G>T" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59498909G>T" "SCV006279840" "pathogenic (recessive)" "" "0001070311" "3" "90" "14" "59961943" "59961943" "subst" "0" "00006" "JKAMP_000005" "g.59961943G>C" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59495225G>C" "SCV006311624" "pathogenic (recessive)" "" "0001070312" "2" "90" "14" "59965548" "59965548" "subst" "0" "00006" "JKAMP_000006" "g.59965548C>T" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59498830C>T" "SCV006301795" "pathogenic (recessive)" "" "0001070313" "2" "90" "14" "59970732" "59970732" "del" "0" "00006" "JKAMP_000009" "g.59970732del" "" "{PMID:Chacon-Millan 2026:41643666}" "" "" "" "Germline" "" "" "0" "" "" "g.59504014del" "SCV006279839" "pathogenic (recessive)" "" ## 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 JKAMP ## 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}}" "0001070298" "00026067" "70" "380" "0" "380" "0" "c.380A>G" "r.(?)" "p.(Asp127Gly)" "" "0001070299" "00026067" "90" "871" "0" "871" "0" "c.871dup" "r.(?)" "p.(Tyr291LeufsTer27)" "" "0001070300" "00026067" "90" "871" "0" "871" "0" "c.871dup" "r.(?)" "p.(Tyr291LeufsTer27)" "" "0001070301" "00026067" "90" "243" "0" "243" "0" "c.243dup" "r.(?)" "p.(Lys82GlufsTer16)" "" "0001070302" "00026067" "90" "243" "0" "243" "0" "c.243dup" "r.(?)" "p.(Lys82GlufsTer16)" "" "0001070303" "00026067" "90" "243" "0" "243" "0" "c.243dup" "r.(?)" "p.(Lys82GlufsTer16)" "" "0001070304" "00026067" "70" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Gly37Glu)" "" "0001070305" "00026067" "70" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Gly37Glu)" "" "0001070306" "00026067" "90" "243" "0" "243" "0" "c.243dup" "r.(?)" "p.(Lys82GlufsTer16)" "" "0001070307" "00026067" "90" "243" "0" "243" "0" "c.243dup" "r.(?)" "p.(Lys82GlufsTer16)" "" "0001070308" "00026067" "90" "243" "0" "243" "0" "c.243dup" "r.(?)" "p.(Lys82GlufsTer16)" "" "0001070309" "00026067" "70" "443" "0" "443" "0" "c.443A>G" "r.(?)" "p.(Glu148Gly)" "" "0001070310" "00026067" "90" "640" "1" "640" "1" "c.640+1G>T" "r.spl" "p.?" "" "0001070311" "00026067" "90" "458" "1" "458" "1" "c.458+1G>C" "r.spl" "p.?" "" "0001070312" "00026067" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "" "0001070313" "00026067" "90" "878" "0" "878" "0" "c.878del" "r.(?)" "p.(Phe293SerfsTer34)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000475744" "0001070298" "0000475744" "0001070312" "0000475745" "0001070299" "0000475746" "0001070300" "0000475747" "0001070301" "0000475748" "0001070302" "0000475749" "0001070303" "0000475750" "0001070304" "0000475751" "0001070305" "0000475752" "0001070306" "0000475753" "0001070307" "0000475754" "0001070308" "0000475755" "0001070309" "0000475755" "0001070313" "0000475756" "0001070310" "0000475757" "0001070311"