### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C12orf65)
# 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}}"
"C12orf65" "chromosome 12 open reading frame 65" "12" "q24.31" "unknown" "NC_000012.11" "UD_132084490811" "" "http://www.LOVD.nl/MTRFR" "" "1" "26784" "91574" "613541" "1" "1" "1" "1" "NOTE: gene name changed from C12orf65 to MTRFR\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/C12orf65_codingDNA.html" "1" "" "NOTE: gene name changed from C12orf65 to MTRFR" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-12-09 14:17:34" "00000" "2025-07-08 13:22:38"
## 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}}"
"00004004" "C12orf65" "transcript variant 1" "001" "NM_152269.4" "" "NP_689482.1" "" "" "" "-263" "1429" "501" "123717844" "123742506" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00038" "LS" "Leigh syndrome (LS)" "AR;Mi" "256000" "" "" "" "00008" "2012-08-30 16:26:44" "00006" "2025-01-31 09:48:07"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"03362" "COXPD7" "combined oxidative phosphorylation deficiency, type 7 (COXPD-7)" "AR" "613559" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50"
"04388" "SPG55" "paraplegia, spastic, autosomal recessive, type 55 (SPG-55)" "AR" "615035" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32"
"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 = 2
"{{geneid}}" "{{diseaseid}}"
"C12orf65" "03362"
"C12orf65" "04388"
## 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}}"
"00080916" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" ""
"00150170" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB4635"
"00204610" "" "" "" "1" "" "00000" "" "" "M" "" "" "" "0" "" "" "Dutch" ""
"00204611" "" "" "" "1" "" "00000" "" "Both parents (and an older sister) were heterozygous carriers of the mutation, making it unlikely. An older brother was homozygous for the wild-type allele." "F" "" "" "" "0" "" "" "Turkish" ""
"00204612" "" "" "" "1" "" "00000" "" "Father of Pat1" "M" "" "" "" "0" "" "" "Turkish" ""
"00204613" "" "" "" "1" "" "00000" "" "Mother of Pat1" "F" "" "" "" "0" "" "" "Turkish" ""
"00204614" "" "" "" "1" "" "00000" "" "Sister of Pat1" "F" "" "" "" "0" "" "" "Turkish" ""
"00290629" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00296588" "" "" "" "2" "" "00006" "{PMID:Taylor 2014:25058219}" "2 affected" "F" "" "Ireland" "" "0" "" "" "Irish" "Pat21"
"00374227" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3353"
"00390468" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G013375"
"00461160" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "M" "" "China" "" "0" "" "" "" "F019P020II-2"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 12
"{{individualid}}" "{{diseaseid}}"
"00080916" "03362"
"00150170" "00198"
"00204610" "00038"
"00204611" "00038"
"00204612" "00000"
"00204613" "00000"
"00204614" "00000"
"00290629" "00198"
"00296588" "00198"
"00374227" "00198"
"00390468" "05611"
"00461160" "04293"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00038, 00198, 03362, 04293, 04388, 05611
## Count = 6
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000060485" "03362" "00080916" "01758" "Familial, autosomal recessive" "" "Combined oxidative phosphorylation deficiency 7 (OMIM:613559)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000122572" "00198" "00150170" "00006" "Familial, autosomal recessive" "" "Hypergonadotrophic hypogonadism, corpus callosum hypoplasia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000223994" "00198" "00296588" "00006" "Isolated (sporadic)" "13y" "muscle affected; central nervous system affected; heart not affected; liver not affected; lactic acidosis, optic atrophy, mtDNA depletion" "2y6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" ""
"0000269437" "00198" "00374227" "00006" "Familial, autosomal recessive" "" "Visual disturbance, frequent falls, progressive gait difficulty, oculomotor apraxia, spasticity, cognitive deficit and peripheral neuropathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "neuropathy, spasticity" "" ""
"0000284006" "05611" "00390468" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Neurological and Developmental Disorders" "" ""
"0000348660" "04293" "00461160" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., congenital; best corrected visual acuity (first visit) OD 0.05/OS 0.1; fundus oculi (first visit) OD temporal pallor, ARV/OS temporal pallor, ARV; electrophysiology moderately reduced (rod/cone); bilateral nystagmus;" "infant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" ""
## 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}}"
"0000081028" "00080916" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000151025" "00150170" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000205639" "00204610" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" ""
"0000205640" "00204611" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" ""
"0000205641" "00204612" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" ""
"0000205642" "00204613" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" ""
"0000205643" "00204614" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" ""
"0000291797" "00290629" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000297698" "00296588" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000375421" "00374227" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000391709" "00390468" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000462792" "00461160" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 9
"{{screeningid}}" "{{geneid}}"
"0000081028" "C12orf65"
"0000151025" "C12orf65"
"0000205639" "C12orf65"
"0000205640" "C12orf65"
"0000205641" "C12orf65"
"0000205642" "C12orf65"
"0000205643" "C12orf65"
"0000375421" "C12orf65"
"0000391709" "C12orf65"
## 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}}"
"0000130114" "3" "90" "12" "123738469" "123738469" "del" "4.06382E-6" "01758" "C12orf65_000001" "g.123738469del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.123253922del" "" "pathogenic" "ACMG"
"0000244186" "3" "90" "12" "123738469" "123738469" "del" "4.06382E-6" "00006" "C12orf65_000001" "g.123738469del" "" "{PMID:Karaca 2015:26539891}" "" "NM_001143905: c.248delT; p.V83fs" "" "Germline" "" "" "0" "" "" "g.123253922del" "" "pathogenic" ""
"0000263829" "0" "10" "12" "123741552" "123741552" "subst" "8.17194E-6" "02330" "C12orf65_000003" "g.123741552T>C" "" "" "" "MTRFR(NM_001194995.1):c.475T>C (p.W159R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123257005T>C" "" "benign" ""
"0000435042" "3" "95" "12" "123738431" "123738431" "del" "0.000166558" "00000" "C12orf65_000002" "g.123738431del" "" "{PMID:Antonicka 2010:20598281}" "" "210delA" "" "Germline" "" "" "0" "" "" "g.123253884del" "" "pathogenic" ""
"0000435043" "3" "95" "12" "123738469" "123738469" "del" "4.06382E-6" "00000" "C12orf65_000001" "g.123738469del" "" "{PMID:Antonicka 2010:20598281}" "" "248delT" "" "Germline" "" "" "0" "" "" "g.123253922del" "" "pathogenic" ""
"0000435044" "0" "35" "12" "123738469" "123738469" "del" "4.06382E-6" "00000" "C12orf65_000001" "g.123738469del" "" "{PMID:Antonicka 2010:20598281}" "" "248delT" "" "Germline" "" "" "0" "" "" "g.123253922del" "" "likely benign" ""
"0000435045" "0" "35" "12" "123738469" "123738469" "del" "4.06382E-6" "00000" "C12orf65_000001" "g.123738469del" "" "{PMID:Antonicka 2010:20598281}" "" "248delT" "" "Germline" "" "" "0" "" "" "g.123253922del" "" "likely benign" ""
"0000435046" "0" "35" "12" "123738469" "123738469" "del" "4.06382E-6" "00000" "C12orf65_000001" "g.123738469del" "" "{PMID:Antonicka 2010:20598281}" "" "248delT" "" "Germline" "" "" "0" "" "" "g.123253922del" "" "likely benign" ""
"0000546927" "0" "30" "12" "123738333" "123738333" "subst" "0.000138186" "02330" "C12orf65_000006" "g.123738333G>A" "" "" "" "MTRFR(NM_001194995.1):c.112G>A (p.V38I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123253786G>A" "" "likely benign" ""
"0000546928" "0" "50" "12" "123738464" "123738464" "subst" "0" "02327" "C12orf65_000007" "g.123738464C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123253917C>G" "" "VUS" ""
"0000546929" "0" "50" "12" "123741445" "123741445" "subst" "4.10357E-6" "01804" "C12orf65_000008" "g.123741445A>G" "" "" "" "C12orf65(NM_001143905.2):c.368A>G (p.(Glu123Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123256898A>G" "" "VUS" ""
"0000613920" "0" "30" "12" "123738275" "123738275" "subst" "0.000194984" "02330" "C12orf65_000009" "g.123738275G>A" "" "" "" "MTRFR(NM_001194995.1):c.54G>A (p.P18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123253728G>A" "" "likely benign" ""
"0000648486" "1" "10" "12" "123738265" "123738265" "subst" "0.0189235" "03575" "C12orf65_000005" "g.123738265G>A" "21/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous, no homozygous; {DB:CLININrs78651634}" "Germline" "" "rs78651634" "0" "" "" "g.123253718G>A" "" "benign" ""
"0000657010" "0" "90" "12" "123738431" "123738431" "del" "0.000166558" "01943" "C12orf65_000002" "g.123738431del" "" "" "" "C12orf65(NM_001194995.1):c.210delA (p.G72Afs*13), C12orf65(NM_152269.5):c.210del (p.(Gly72AlafsTer13)), MTRFR(NM_152269.5):c.210delA (p.G72Afs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123253884del" "" "pathogenic" ""
"0000660307" "3" "90" "12" "123738317" "123738320" "dup" "0" "00006" "C12orf65_000010" "g.123738317_123738320dup" "" "{PMID:Taylor 2014:25058219}" "" "c.96_99dupATCC" "" "Germline" "" "" "0" "" "" "g.123253770_123253773dup" "" "pathogenic (recessive)" ""
"0000691268" "0" "30" "12" "123741545" "123741545" "subst" "0.000241465" "01943" "C12orf65_000011" "g.123741545A>G" "" "" "" "C12orf65(NM_001194995.1):c.468A>G (p.K156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000723886" "0" "90" "12" "123738431" "123738431" "del" "0.000166558" "02325" "C12orf65_000002" "g.123738431del" "" "" "" "C12orf65(NM_001194995.1):c.210delA (p.G72Afs*13), C12orf65(NM_152269.5):c.210del (p.(Gly72AlafsTer13)), MTRFR(NM_152269.5):c.210delA (p.G72Afs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000723887" "0" "50" "12" "123738503" "123738503" "subst" "0" "01943" "C12orf65_000012" "g.123738503G>A" "" "" "" "C12orf65(NM_001194995.1):c.282G>A (p.K94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000786772" "3" "90" "12" "123741423" "123741423" "del" "0" "00006" "C12orf65_000013" "g.123741423del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.123256876del" "" "pathogenic" ""
"0000821459" "3" "70" "12" "123738469" "123738469" "del" "4.06382E-6" "00000" "C12orf65_000001" "g.123738469del" "" "{PMID:Turro 2020:32581362}" "" "C12orf65 c.248delT, p.Val83GlyfsTer2" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.123253922del" "" "likely pathogenic" ""
"0000853295" "0" "50" "12" "123738480" "123738480" "subst" "0" "01943" "C12orf65_000014" "g.123738480A>G" "" "" "" "C12orf65(NM_001194995.1):c.259A>G (p.I87V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000925576" "0" "30" "12" "123741386" "123741386" "subst" "0.00167036" "02330" "C12orf65_000015" "g.123741386G>A" "" "" "" "MTRFR(NM_001194995.1):c.309G>A (p.Q103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980105" "0" "90" "12" "123738431" "123738431" "del" "0.000166558" "01804" "C12orf65_000002" "g.123738431del" "" "" "" "C12orf65(NM_001194995.1):c.210delA (p.G72Afs*13), C12orf65(NM_152269.5):c.210del (p.(Gly72AlafsTer13)), MTRFR(NM_152269.5):c.210delA (p.G72Afs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001022379" "1" "90" "12" "123741445" "123741452" "del" "0" "00006" "C12orf65_000016" "g.123741445_123741452del" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PVS1, PS4, PM2, PM3, PP1, PP4," "Germline" "" "" "0" "" "" "g.123256898_123256905del" "" "pathogenic" ""
"0001022535" "2" "90" "12" "123741445" "123741452" "del" "0" "00006" "C12orf65_000016" "g.123741445_123741452del" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PVS1, PS4, PM2, PM3, PP1, PP4," "Germline" "" "" "0" "" "" "g.123256898_123256905del" "" "pathogenic" ""
"0001046356" "0" "70" "12" "123741448" "123741448" "del" "0" "02325" "C12orf65_000017" "g.123741448del" "" "" "" "MTRFR(NM_152269.5):c.371delA (p.N124Tfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 C12orf65
## 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}}"
"0000130114" "00004004" "90" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Val83Glyfs*2)" ""
"0000244186" "00004004" "90" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Val83Glyfs*2)" ""
"0000263829" "00004004" "10" "475" "0" "475" "0" "c.475T>C" "r.(?)" "p.(Trp159Arg)" ""
"0000435042" "00004004" "95" "210" "0" "210" "0" "c.210del" "r.(?)" "p.(Gly72Alafs*13)" "?"
"0000435043" "00004004" "95" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Val83Glyfs*2)" "?"
"0000435044" "00004004" "35" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Val83Glyfs*2)" "?"
"0000435045" "00004004" "35" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Val83Glyfs*2)" "?"
"0000435046" "00004004" "35" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Val83Glyfs*2)" "?"
"0000546927" "00004004" "30" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Val38Ile)" ""
"0000546928" "00004004" "50" "243" "0" "243" "0" "c.243C>G" "r.(?)" "p.(Cys81Trp)" ""
"0000546929" "00004004" "50" "368" "0" "368" "0" "c.368A>G" "r.(?)" "p.(Glu123Gly)" ""
"0000613920" "00004004" "30" "54" "0" "54" "0" "c.54G>A" "r.(?)" "p.(Pro18=)" ""
"0000648486" "00004004" "10" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Arg15Gln)" ""
"0000657010" "00004004" "90" "210" "0" "210" "0" "c.210del" "r.(?)" "p.(Gly72AlafsTer13)" ""
"0000660307" "00004004" "90" "96" "0" "99" "0" "c.96_99dup" "r.(?)" "p.(Pro34Ilefs*25)" ""
"0000691268" "00004004" "30" "468" "0" "468" "0" "c.468A>G" "r.(?)" "p.(Lys156=)" ""
"0000723886" "00004004" "90" "210" "0" "210" "0" "c.210del" "r.(?)" "p.(Gly72AlafsTer13)" ""
"0000723887" "00004004" "50" "282" "0" "282" "0" "c.282G>A" "r.(?)" "p.(Lys94=)" ""
"0000786772" "00004004" "90" "346" "0" "346" "0" "c.346del" "r.(?)" "p.(Val116Ter)" "3"
"0000821459" "00004004" "70" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Val83GlyfsTer2)" ""
"0000853295" "00004004" "50" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Ile87Val)" ""
"0000925576" "00004004" "30" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Gln103=)" ""
"0000980105" "00004004" "90" "210" "0" "210" "0" "c.210del" "r.(?)" "p.(Gly72AlafsTer13)" ""
"0001022379" "00004004" "90" "368" "0" "375" "0" "c.368_375del" "r.(?)" "p.(Glu123AlafsTer31)" ""
"0001022535" "00004004" "90" "368" "0" "375" "0" "c.368_375del" "r.(?)" "p.(Glu123AlafsTer31)" ""
"0001046356" "00004004" "70" "371" "0" "371" "0" "c.371del" "r.(?)" "p.(Asn124Thrfs*52)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 13
"{{screeningid}}" "{{variantid}}"
"0000081028" "0000130114"
"0000151025" "0000244186"
"0000205639" "0000435042"
"0000205640" "0000435043"
"0000205641" "0000435044"
"0000205642" "0000435045"
"0000205643" "0000435046"
"0000291797" "0000648486"
"0000297698" "0000660307"
"0000375421" "0000786772"
"0000391709" "0000821459"
"0000462792" "0001022379"
"0000462792" "0001022535"