### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KIAA1715)
# 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}}"
"KIAA1715" "KIAA1715" "2" "q31" "unknown" "NC_000002.11" "UD_133485391967" "" "http://www.LOVD.nl/LNPK" "" "1" "21610" "80856" "610236" "1" "1" "1" "1" "NOTE: gene name changed from KIAA1715 to LNPK\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from KIAA1715 to LNPK" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 14:09:34" "00000" "2025-06-07 21:55:03"
## 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}}"
"00010556" "KIAA1715" "KIAA1715" "001" "NM_030650.1" "" "NP_085153.1" "" "" "" "-193" "5572" "1287" "176867018" "176790410" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{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"
"05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" ""
"05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21"
"06475" "NEDEHCC" "Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" "AR" "618090" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"KIAA1715" "06475"
## Individuals ## Do not remove or alter this header ##
## Count = 12
"{{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}}"
"00412451" "" "" "" "1" "" "03972" "" "" "" "" "" "" "" "" "" "" ""
"00412510" "" "" "" "1" "" "03972" "" "" "" "no" "" "" "" "" "" "" ""
"00412511" "" "" "" "1" "" "03972" "" "" "" "yes" "" "" "" "" "" "" ""
"00412512" "" "" "" "1" "" "03972" "" "" "" "yes" "" "" "" "" "" "" ""
"00412513" "" "" "" "1" "" "03972" "" "" "" "yes" "" "" "" "" "" "" ""
"00412514" "" "" "" "1" "" "03972" "" "" "" "yes" "" "" "" "" "" "" ""
"00412515" "" "" "" "1" "" "03972" "" "" "" "yes" "" "" "" "" "" "" ""
"00427086" "" "" "" "1" "" "03972" "" "" "" "yes" "" "" "0" "" "" "" ""
"00427088" "" "" "" "2" "" "00006" "{PMID:Breuss 2018:30032983}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Egypt" "" "0" "" "" "" "FamAPatIII1"
"00427089" "" "" "00427088" "1" "" "00006" "{PMID:Breuss 2018:30032983}" "brother" "M" "yes" "Egypt" "" "0" "" "" "" "FamAPatIII2"
"00427090" "" "" "" "1" "" "00006" "{PMID:Breuss 2018:30032983}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamBPatIII2"
"00427099" "" "" "" "1" "" "00006" "{PMID:Türkyılmaz 2022:35599435}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Turkey" "" "0" "" "" "" "patient"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 12
"{{individualid}}" "{{diseaseid}}"
"00412451" "06475"
"00412510" "06475"
"00412511" "06475"
"00412512" "06475"
"00412513" "06475"
"00412514" "06475"
"00412515" "06475"
"00427086" "00198"
"00427088" "05611"
"00427089" "05611"
"00427090" "05611"
"00427099" "05356"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05356, 05611, 06475
## 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}}"
"0000318105" "05611" "00427088" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., delayed gross motor skills, delayed fine motor skills, no speech, delayed social skills, progressive regression; severe intellectual disability, no speech, autistic features, very limited social interaction, hyperactivity, inattention, dementia; rigidity, drooling; no cerebellar deficits; hypertonia, only crawling; muscle tone hypotonia with rigidity; reflexes present; sensory normal; not walking; 2y-onset seizures, every several days, myoclonic (most frequent), tonic, extension spasms; treatment valproate, levetiracetum, clonazepam; MRI brain hypoplasia corpus callosum, normal cerebellum" "" "" "" "" "" "" "" "" "NEDEHCC" "neurodevelopmental delay" ""
"0000318106" "05611" "00427089" "00006" "Familial, autosomal recessive" "07y04m" "see paper; ..., delayed gross motor skills, delayed fine motor skills, delayed speech, delayed social skills, regression stationary; intellectual disability, a few unclear words, mild autistic features, hyperactive, inattention, minimal aggressiveness; no cerebellar deficits; ambulatory, wide based gait; muscle tone mild hypotonia; reflexes present; sensory normal 2y-onset seizures, controlled, myoclonic; treatment valproate, levetiracetum,; MRI brain hypoplasia corpus callosum, cerebellum mild vermian hypoplasia" "" "" "" "" "" "" "" "" "NEDEHCC" "neurodevelopmental delay" ""
"0000318107" "05611" "00427090" "00006" "Familial, autosomal recessive" "01y02m" "see paper; ..., significantly delayed gross motor skills, significantly delayed fine motor skills, significantly delayed speech, significantly delayed social skills, progressive regression (bed-ridden); vegetative stte; rigidity, flaccid, ataxia; 1y-onset seizures, generalized tonic clonic, treatment valproate, carbamazepine; MRI brain hypoplasia corpus callosum, cerebellum atrophy" "" "" "" "" "" "" "" "" "NEDEHCC" "neurodevelopmental delay" ""
"0000318116" "05356" "00427099" "00006" "Familial, autosomal recessive" "09y" "see paper" "" "" "" "" "" "" "" "" "NEDEHCC" "ataxia" ""
## Screenings ## Do not remove or alter this header ##
## Count = 12
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000413721" "00412451" "1" "03972" "03972" "2022-06-29 00:15:40" "" "" "SEQ-NG" "DNA" "" ""
"0000413780" "00412510" "1" "03972" "03972" "2022-06-29 21:51:32" "" "" "SEQ-NG" "DNA" "" ""
"0000413781" "00412511" "1" "03972" "03972" "2022-06-29 21:57:16" "" "" "SEQ-NG" "DNA" "" ""
"0000413782" "00412512" "1" "03972" "03972" "2022-06-29 22:50:47" "" "" "SEQ-NG" "DNA" "" ""
"0000413783" "00412513" "1" "03972" "03972" "2022-06-29 22:58:38" "" "" "SEQ-NG" "DNA" "" ""
"0000413784" "00412514" "1" "03972" "03972" "2022-06-29 23:03:33" "" "" "SEQ-NG" "DNA" "" ""
"0000413785" "00412515" "1" "03972" "03972" "2022-06-29 23:07:51" "" "" "SEQ-NG" "DNA" "" ""
"0000428406" "00427086" "1" "03972" "03972" "2022-12-05 01:16:28" "" "" "?" "DNA" "" ""
"0000428408" "00427088" "1" "00006" "00006" "2022-12-05 10:24:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000428409" "00427089" "1" "00006" "00006" "2022-12-05 10:30:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000428410" "00427090" "1" "00006" "00006" "2022-12-05 10:39:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000428420" "00427099" "1" "00006" "00006" "2022-12-05 13:29:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}" "{{geneid}}"
"0000413721" "KIAA1715"
"0000413780" "KIAA1715"
"0000413781" "KIAA1715"
"0000413782" "KIAA1715"
"0000413783" "KIAA1715"
"0000413784" "KIAA1715"
"0000413785" "KIAA1715"
"0000428406" "KIAA1715"
## 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 = 26
"{{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}}"
"0000510298" "0" "90" "2" "176866890" "176866890" "subst" "6.08304E-5" "01943" "KIAA1715_000001" "g.176866890G>T" "" "" "" "LNPK(NM_001305008.1):c.129C>A (p.C43*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176002162G>T" "" "pathogenic" ""
"0000799849" "0" "50" "2" "176802236" "176802236" "subst" "0" "02329" "KIAA1715_000002" "g.176802236C>G" "" "" "" "LNPK(NM_030650.3):c.890G>C (p.R297P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799850" "0" "50" "2" "176803088" "176803088" "subst" "0" "02329" "KIAA1715_000003" "g.176803088C>A" "" "" "" "LNPK(NM_001305009.1):c.929G>T (p.C310F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000871236" "3" "70" "2" "176860294" "176860294" "subst" "0" "03972" "KIAA1715_000004" "g.176860294G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.175995566G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000871321" "3" "70" "2" "176860375" "176860375" "subst" "0" "03972" "KIAA1715_000010" "g.176860375C>A" "" "" "" "" "Matenral uniparental disomy" "Germline" "yes" "" "" "" "" "g.175995647C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000871322" "3" "70" "2" "176829247" "176829247" "subst" "0" "03972" "KIAA1715_000007" "g.176829247G>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.175964519G>T" "" "pathogenic (recessive)" "ACMG"
"0000871323" "3" "70" "2" "176829313" "176829316" "del" "0" "03972" "KIAA1715_000009" "g.176829313_176829316del" "" "" "" "176829313delTCAA" "" "Germline" "yes" "" "0" "" "" "g.175964585_175964588del" "" "likely pathogenic (recessive)" "ACMG"
"0000871324" "3" "70" "2" "176829274" "176829277" "del" "0" "03972" "KIAA1715_000008" "g.176829274_176829277del" "" "" "" "176829270delAATT" "" "Germline" "yes" "" "0" "" "" "g.175964546_175964549del" "" "likely pathogenic (recessive)" "ACMG"
"0000871325" "3" "70" "2" "176804366" "176804366" "del" "0" "03972" "KIAA1715_000006" "g.176804366del" "" "" "" "726delA" "" "Germline" "yes" "" "0" "" "" "g.175939638del" "" "pathogenic (recessive)" "ACMG"
"0000871326" "3" "70" "2" "176802071" "176802071" "subst" "0" "03972" "KIAA1715_000005" "g.176802071C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.175937343C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000906199" "3" "70" "2" "176802237" "176802237" "subst" "2.10043E-5" "03972" "KIAA1715_000011" "g.176802237G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.175937509G>A" "" "pathogenic (recessive)" "ACMG"
"0000906200" "3" "90" "2" "176804366" "176804366" "del" "0" "00006" "KIAA1715_000006" "g.176804366del" "" "{PMID:Breuss 2018:30032983}" "" "726delA" "" "Germline" "yes" "" "0" "" "" "g.175939638del" "" "pathogenic (recessive)" ""
"0000906201" "3" "90" "2" "176804366" "176804366" "del" "0" "00006" "KIAA1715_000006" "g.176804366del" "" "{PMID:Breuss 2018:30032983}" "" "726delA" "" "Germline" "yes" "" "0" "" "" "g.175939638del" "" "pathogenic (recessive)" ""
"0000906202" "3" "90" "2" "176804341" "176804341" "subst" "0" "00006" "KIAA1715_000012" "g.176804341G>A" "" "{PMID:Breuss 2018:30032983}" "" "" "" "Germline" "" "" "0" "" "" "g.175939613G>A" "" "pathogenic (recessive)" ""
"0000906213" "3" "90" "2" "176804322" "176804322" "del" "0" "00006" "KIAA1715_000013" "g.176804322del" "" "{PMID:Türkyılmaz 2022:35599435}" "" "770delA" "" "Germline" "" "" "0" "" "" "g.175939594del" "" "pathogenic (recessive)" ""
"0000974482" "0" "30" "2" "176803119" "176803119" "subst" "0.000202271" "01804" "KIAA1715_000014" "g.176803119G>A" "" "" "" "LNPK(NM_030650.3):c.813-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000974483" "0" "50" "2" "176812291" "176812291" "subst" "4.06223E-6" "01804" "KIAA1715_000015" "g.176812291G>T" "" "" "" "LNPK(NM_030650.3):c.623C>A (p.(Pro208Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974484" "0" "30" "2" "176829147" "176829147" "subst" "0.000581613" "01804" "KIAA1715_000016" "g.176829147C>T" "" "" "" "LNPK(NM_030650.3):c.446G>A (p.(Cys149Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000974485" "0" "30" "2" "176857110" "176857110" "subst" "0.000783628" "01804" "KIAA1715_000017" "g.176857110G>T" "" "" "" "LNPK(NM_030650.3):c.106C>A (p.(Gln36Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000974486" "0" "50" "2" "176866985" "176866985" "subst" "8.0782E-6" "01804" "KIAA1715_000018" "g.176866985G>A" "" "" "" "LNPK(NM_001305008.1):c.34C>T (p.(Gln12*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032540" "0" "50" "2" "176802236" "176802236" "subst" "0" "02327" "KIAA1715_000002" "g.176802236C>G" "" "" "" "LNPK(NM_030650.3):c.890G>C (p.R297P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032541" "0" "30" "2" "176805821" "176805821" "del" "0" "01804" "KIAA1715_000019" "g.176805821del" "" "" "" "LNPK(NM_001305009.1):c.707-5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001032542" "0" "30" "2" "176829095" "176829095" "subst" "0" "01804" "KIAA1715_000020" "g.176829095T>A" "" "" "" "LNPK(NM_030650.3):c.493+5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001032543" "0" "50" "2" "176857109" "176857109" "subst" "6.73106E-5" "01804" "KIAA1715_000021" "g.176857109T>C" "" "" "" "LNPK(NM_030650.3):c.107A>G (p.(Gln36Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001045325" "0" "90" "2" "176844535" "176844535" "dup" "0" "03779" "KIAA1715_000023" "g.176844535dup" "" "" "" "" "" "Unknown" "" "rs1262571487" "0" "" "" "" "" "pathogenic" ""
"0001045326" "0" "90" "2" "176835491" "176835491" "subst" "0" "03779" "KIAA1715_000022" "g.176835491C>T" "" "" "" "" "" "Unknown" "" "rs1686620603" "0" "" "" "" "" "pathogenic" ""
## 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 KIAA1715
## Count = 26
"{{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}}"
"0000510298" "00010556" "90" "-65" "0" "-65" "0" "c.-65C>A" "r.(?)" "p.(=)" ""
"0000799849" "00010556" "50" "890" "0" "890" "0" "c.890G>C" "r.(?)" "p.(Arg297Pro)" ""
"0000799850" "00010556" "50" "836" "0" "836" "0" "c.836G>T" "r.(?)" "p.(Cys279Phe)" ""
"0000871236" "00010556" "70" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Arg7Ter)" ""
"0000871321" "00010556" "70" "-62" "-1" "-62" "-1" "c.-62-1G>T" "r.?" "p.?" ""
"0000871322" "00010556" "70" "428" "0" "428" "0" "c.428C>A" "r.?" "p.(Ser143Ter)" ""
"0000871323" "00010556" "70" "359" "0" "362" "0" "c.359_362del" "r.?" "p.(Leu120GlnfsTer14)" ""
"0000871324" "00010556" "70" "402" "0" "405" "0" "c.402_405del" "r.?" "p.(Leu134PhefsTer24)" ""
"0000871325" "00010556" "70" "726" "0" "726" "0" "c.726del" "r.?" "p.(Pro243LeufsTer2)" ""
"0000871326" "00010556" "70" "1054" "1" "1054" "1" "c.1054+1G>T" "r.spl" "p.?" ""
"0000906199" "00010556" "70" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Arg297*)" ""
"0000906200" "00010556" "90" "726" "0" "726" "0" "c.726del" "r.(?)" "p.(Pro243Leufs*2)" ""
"0000906201" "00010556" "90" "726" "0" "726" "0" "c.726del" "r.(?)" "p.(Pro243Leufs*2)" ""
"0000906202" "00010556" "90" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" ""
"0000906213" "00010556" "90" "770" "0" "770" "0" "c.770del" "r.(?)" "p.(Asp257Valfs*31)" ""
"0000974482" "00010556" "30" "813" "-8" "813" "-8" "c.813-8C>T" "r.(=)" "p.(=)" ""
"0000974483" "00010556" "50" "623" "0" "623" "0" "c.623C>A" "r.(?)" "p.(Pro208Gln)" ""
"0000974484" "00010556" "30" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Cys149Tyr)" ""
"0000974485" "00010556" "30" "106" "0" "106" "0" "c.106C>A" "r.(?)" "p.(Gln36Lys)" ""
"0000974486" "00010556" "50" "-160" "0" "-160" "0" "c.-160C>T" "r.(?)" "p.(=)" ""
"0001032540" "00010556" "50" "890" "0" "890" "0" "c.890G>C" "r.(?)" "p.(Arg297Pro)" ""
"0001032541" "00010556" "30" "707" "-1428" "707" "-1428" "c.707-1428del" "r.(=)" "p.(=)" ""
"0001032542" "00010556" "30" "493" "5" "493" "5" "c.493+5A>T" "r.spl?" "p.?" ""
"0001032543" "00010556" "50" "107" "0" "107" "0" "c.107A>G" "r.(?)" "p.(Gln36Arg)" ""
"0001045325" "00010556" "90" "316" "4" "316" "4" "c.316+4dup" "r.(?)" "p.(?)" ""
"0001045326" "00010556" "90" "357" "1" "357" "1" "c.357+1G>A" "r.(?)" "p.(?)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}" "{{variantid}}"
"0000413721" "0000871236"
"0000413780" "0000871321"
"0000413781" "0000871322"
"0000413782" "0000871323"
"0000413783" "0000871324"
"0000413784" "0000871325"
"0000413785" "0000871326"
"0000428406" "0000906199"
"0000428408" "0000906200"
"0000428409" "0000906201"
"0000428410" "0000906202"
"0000428420" "0000906213"