### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TMEM126A)
# 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}}"
"TMEM126A" "transmembrane protein 126A" "11" "q14.1" "unknown" "NG_017157.2" "UD_132118724538" "" "https://www.LOVD.nl/TMEM126A" "" "1" "25382" "84233" "612988" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\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/TMEM126A_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2011-07-07 00:00:00" "00006" "2020-11-26 19:31:17" "00006" "2025-01-31 10:25:18"
## 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}}"
"00021362" "TMEM126A" "transmembrane protein 126A" "001" "NM_032273.3" "" "NP_115649.1" "" "" "" "-178" "640" "588" "85358963" "85367597" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{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"
"03222" "OPA7" "atrophy, optic, type 7, with/without auditory neuropathy (OPA-7)" "AR" "612989" "" "" "" "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"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"TMEM126A" "03222"
"TMEM126A" "04293"
## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00037238" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00037239" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00037240" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00088081" "" "" "" "1" "" "01164" "" "Analysis of LOHN and OPA1 with negative result" "M" "?" "Germany" "" "0" "" "" "" ""
"00296399" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00412272" "" "" "" "1" "" "03508" "" "" "" "" "" "" "" "" "" "" ""
"00461287" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "M" "" "China" "" "0" "" "" "" "F136P147II-1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}" "{{diseaseid}}"
"00088081" "04293"
"00296399" "00198"
"00412272" "00198"
"00461287" "04293"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03222, 04293
## Count = 3
"{{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}}"
"0000067587" "04293" "00088081" "01164" "Unknown" "" "Optic atrophy, nonsyndromic" "" "" "" "" "" "51" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-7" "" "" ""
"0000223813" "00198" "00296399" "01164" "Unknown" "" "Abnormal eye physiology (HP:0012373); Abnormality of the optic disc (HP:0012795); Abnormality of vision (HP:0000504); Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000348787" "04293" "00461287" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.03/OS 0.03; fundus oculi (first visit) OD diffuse pale optic disc/OS diffuse pale optic disc; OCT OD temporal thinning, IT/OS temporal thinning, IT;" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000037308" "00037238" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000037309" "00037239" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000037310" "00037240" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000088221" "00088081" "1" "01164" "01164" "2014-10-15 11:50:08" "" "" "SEQ" "DNA" "" ""
"0000297510" "00296399" "1" "01164" "01164" "2020-04-06 09:48:19" "" "" "SEQ-NG-S" "DNA" "" ""
"0000413545" "00412272" "1" "03508" "03508" "2022-06-26 09:55:02" "" "" "SEQ-NG-I" "DNA" "" ""
"0000462919" "00461287" "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 = 4
"{{screeningid}}" "{{geneid}}"
"0000037308" "TMEM126A"
"0000037309" "TMEM126A"
"0000037310" "TMEM126A"
"0000088221" "TMEM126A"
## 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 = 27
"{{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}}"
"0000064433" "1" "50" "11" "85359095" "85359096" "ins" "0" "01164" "TMEM126A_000001" "g.85359095_85359096insACCG" "" "" "" "" "" "Germline" "" "rs70934" "0" "" "" "g.85648051_85648052insACCG" "" "VUS" ""
"0000064434" "1" "10" "11" "85366762" "85366762" "subst" "0.289439" "01164" "TMEM126A_000002" "g.85366762A>G" "" "" "" "" "" "Germline" "" "rs2196168" "0" "" "" "g.85655718A>G" "" "benign" ""
"0000064435" "1" "10" "11" "85367289" "85367289" "subst" "0" "01164" "TMEM126A_000003" "g.85367289C>T" "" "" "" "" "" "Germline" "" "rs3753050" "0" "" "" "g.85656245C>T" "" "benign" ""
"0000141405" "3" "50" "11" "85359095" "85359096" "ins" "0" "01164" "TMEM126A_000001" "g.85359095_85359096insACCG" "" "" "" "" "Exon 1 (5\'UTR); homozygous found, no MLPA Deletionscreening available but other variant heterozygous found in patient" "Unknown" "" "rs201491180" "0" "" "" "g.85648051_85648052insACCG" "" "VUS" ""
"0000141406" "3" "30" "11" "85366762" "85366762" "subst" "0.289439" "01164" "TMEM126A_000002" "g.85366762A>G" "MAF G=0.3444/750" "" "" "" "in silico splice analysis showed no alteration compared to WT" "Unknown" "" "rs2196168" "0" "" "" "g.85655718A>G" "" "likely benign" ""
"0000141407" "0" "30" "11" "85367289" "85367289" "subst" "0" "01164" "TMEM126A_000003" "g.85367289C>T" "MAF T=0.3264/710" "" "" "" "in silico splice analysis showed no alteration compared to WT" "Unknown" "" "rs3753050" "0" "" "" "g.85656245C>T" "" "likely benign" ""
"0000247013" "0" "10" "11" "85365174" "85365174" "subst" "0.0028506" "02330" "TMEM126A_000007" "g.85365174A>G" "" "" "" "TMEM126A(NM_032273.3):c.154A>G (p.S52G), TMEM126A(NM_032273.4):c.154A>G (p.S52G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85654130A>G" "" "benign" ""
"0000249161" "0" "10" "11" "85366762" "85366762" "subst" "0.289439" "02325" "TMEM126A_000002" "g.85366762A>G" "" "" "" "TMEM126A(NM_032273.4):c.395+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85655718A>G" "" "benign" ""
"0000255920" "0" "50" "11" "85361382" "85361382" "subst" "0" "01943" "TMEM126A_000004" "g.85361382A>C" "" "" "" "TMEM126A(NM_032273.3):c.83A>C (p.E28A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85650338A>C" "" "VUS" ""
"0000309208" "0" "10" "11" "85365211" "85365211" "subst" "0.0015878" "02330" "TMEM126A_000009" "g.85365211G>A" "" "" "" "TMEM126A(NM_032273.3):c.191G>A (p.R64H), TMEM126A(NM_032273.4):c.191G>A (p.R64H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85654167G>A" "" "benign" ""
"0000309209" "0" "10" "11" "85365314" "85365314" "subst" "0.00103638" "02330" "TMEM126A_000010" "g.85365314C>T" "" "" "" "TMEM126A(NM_032273.4):c.280+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85654270C>T" "" "benign" ""
"0000309210" "0" "30" "11" "85366671" "85366671" "subst" "0.00307511" "02330" "TMEM126A_000011" "g.85366671G>A" "" "" "" "TMEM126A(NM_032273.3):c.314G>A (p.R105Q), TMEM126A(NM_032273.4):c.314G>A (p.R105Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85655627G>A" "" "likely benign" ""
"0000309211" "0" "10" "11" "85366757" "85366757" "subst" "0.00169516" "02330" "TMEM126A_000012" "g.85366757G>A" "" "" "" "TMEM126A(NM_032273.4):c.395+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85655713G>A" "" "benign" ""
"0000309212" "0" "10" "11" "85365088" "85365088" "subst" "5.27927E-5" "02330" "TMEM126A_000005" "g.85365088T>G" "" "" "" "TMEM126A(NM_032273.4):c.87-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85654044T>G" "" "benign" ""
"0000314544" "0" "90" "11" "85365183" "85365183" "subst" "3.65467E-5" "02326" "TMEM126A_000008" "g.85365183C>T" "" "" "" "TMEM126A(NM_032273.4):c.163C>T (p.R55*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85654139C>T" "" "pathogenic" ""
"0000316668" "0" "30" "11" "85365211" "85365211" "subst" "0.0015878" "01943" "TMEM126A_000009" "g.85365211G>A" "" "" "" "TMEM126A(NM_032273.3):c.191G>A (p.R64H), TMEM126A(NM_032273.4):c.191G>A (p.R64H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85654167G>A" "" "likely benign" ""
"0000316669" "0" "30" "11" "85365116" "85365116" "subst" "0.00188834" "01943" "TMEM126A_000006" "g.85365116T>G" "" "" "" "TMEM126A(NM_032273.3):c.96T>G (p.L32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85654072T>G" "" "likely benign" ""
"0000545997" "0" "50" "11" "85366671" "85366671" "subst" "0.00307511" "01943" "TMEM126A_000011" "g.85366671G>A" "" "" "" "TMEM126A(NM_032273.3):c.314G>A (p.R105Q), TMEM126A(NM_032273.4):c.314G>A (p.R105Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85655627G>A" "" "VUS" ""
"0000545998" "0" "50" "11" "85366742" "85366742" "subst" "0.000349443" "01943" "CREBZF_000001" "g.85366742C>G" "" "" "" "TMEM126A(NM_032273.3):c.385C>G (p.L129V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85655698C>G" "" "VUS" ""
"0000545999" "0" "50" "11" "85367388" "85367388" "subst" "0.000166942" "02330" "CREBZF_000002" "g.85367388T>C" "" "" "" "TMEM126A(NM_032273.4):c.431T>C (p.I144T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85656344T>C" "" "VUS" ""
"0000546000" "0" "30" "11" "85367449" "85367449" "subst" "0.000142517" "02330" "CREBZF_000003" "g.85367449G>A" "" "" "" "TMEM126A(NM_032273.4):c.492G>A (p.L164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85656405G>A" "" "likely benign" ""
"0000613770" "0" "30" "11" "85365174" "85365174" "subst" "0.0028506" "01943" "TMEM126A_000007" "g.85365174A>G" "" "" "" "TMEM126A(NM_032273.3):c.154A>G (p.S52G), TMEM126A(NM_032273.4):c.154A>G (p.S52G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85654130A>G" "" "likely benign" ""
"0000613771" "0" "90" "11" "85365183" "85365183" "subst" "3.65467E-5" "02327" "TMEM126A_000008" "g.85365183C>T" "" "" "" "TMEM126A(NM_032273.4):c.163C>T (p.R55*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85654139C>T" "" "pathogenic" ""
"0000656946" "0" "90" "11" "85365183" "85365183" "subst" "3.65467E-5" "02330" "TMEM126A_000008" "g.85365183C>T" "" "" "" "TMEM126A(NM_032273.4):c.163C>T (p.R55*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85654139C>T" "" "pathogenic" ""
"0000660112" "3" "70" "11" "85365302" "85365302" "subst" "4.06204E-6" "01164" "TMEM126A_000013" "g.85365302T>A" "" "" "" "" "" "Germline" "" "rs745704252" "0" "" "" "g.85654258T>A" "" "likely pathogenic" ""
"0000871052" "21" "90" "11" "85361327" "85361327" "del" "0" "03508" "TMEM126A_000014" "g.85361327del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85650283del" "" "likely pathogenic" "ACMG"
"0001022506" "3" "90" "11" "85367440" "85367445" "delins" "0" "00006" "TMEM126A_000015" "g.85367440_85367445delinsAA" "" "{PMID:Zheng 2024:39423307}" "" "[483_486delTCCT;488T>A]" "ACMG PVS1, PS4, PM2, PP4" "Germline" "" "" "0" "" "" "g.85656396_85656401delinsAA" "" "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 TMEM126A
## Count = 27
"{{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}}"
"0000064433" "00021362" "50" "-46" "0" "-45" "0" "c.-46_-45insACCG" "r.(=)" "p.(=)" ""
"0000064434" "00021362" "10" "395" "10" "395" "10" "c.395+10A>G" "r.(=)" "p.(=)" ""
"0000064435" "00021362" "10" "396" "-64" "396" "-64" "c.396-64C>T" "r.(=)" "p.(=)" ""
"0000141405" "00021362" "50" "-46" "0" "-45" "0" "c.-46_-45insACCG" "r.(=)" "p.(=)" "1"
"0000141406" "00021362" "30" "395" "10" "395" "10" "c.395+10A>G" "r.(=)" "p.(=)" "4i"
"0000141407" "00021362" "30" "396" "-64" "396" "-64" "c.396-64C>T" "r.(=)" "p.(=)" "4i"
"0000247013" "00021362" "10" "154" "0" "154" "0" "c.154A>G" "r.(?)" "p.(Ser52Gly)" ""
"0000249161" "00021362" "10" "395" "10" "395" "10" "c.395+10A>G" "r.(=)" "p.(=)" ""
"0000255920" "00021362" "50" "83" "0" "83" "0" "c.83A>C" "r.(?)" "p.(Glu28Ala)" ""
"0000309208" "00021362" "10" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Arg64His)" ""
"0000309209" "00021362" "10" "280" "14" "280" "14" "c.280+14C>T" "r.(=)" "p.(=)" ""
"0000309210" "00021362" "30" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105Gln)" ""
"0000309211" "00021362" "10" "395" "5" "395" "5" "c.395+5G>A" "r.spl?" "p.?" ""
"0000309212" "00021362" "10" "87" "-19" "87" "-19" "c.87-19T>G" "r.(=)" "p.(=)" ""
"0000314544" "00021362" "90" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Arg55Ter)" ""
"0000316668" "00021362" "30" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Arg64His)" ""
"0000316669" "00021362" "30" "96" "0" "96" "0" "c.96T>G" "r.(?)" "p.(Leu32=)" ""
"0000545997" "00021362" "50" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105Gln)" ""
"0000545998" "00021362" "50" "385" "0" "385" "0" "c.385C>G" "r.(?)" "p.(Leu129Val)" ""
"0000545999" "00021362" "50" "431" "0" "431" "0" "c.431T>C" "r.(?)" "p.(Ile144Thr)" ""
"0000546000" "00021362" "30" "492" "0" "492" "0" "c.492G>A" "r.(?)" "p.(Leu164=)" ""
"0000613770" "00021362" "30" "154" "0" "154" "0" "c.154A>G" "r.(?)" "p.(Ser52Gly)" ""
"0000613771" "00021362" "90" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Arg55Ter)" ""
"0000656946" "00021362" "90" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Arg55Ter)" ""
"0000660112" "00021362" "70" "280" "2" "280" "2" "c.280+2T>A" "r.(?)" "p.(?)" ""
"0000871052" "00021362" "90" "28" "0" "28" "0" "c.28del" "r.(?)" "p.(Glu10Lysfs*3)" ""
"0001022506" "00021362" "90" "483" "0" "488" "0" "c.483_488delinsAA" "r.(?)" "p.(Phe161LeufsTer21)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 9
"{{screeningid}}" "{{variantid}}"
"0000037308" "0000064433"
"0000037309" "0000064434"
"0000037310" "0000064435"
"0000088221" "0000141405"
"0000088221" "0000141406"
"0000088221" "0000141407"
"0000297510" "0000660112"
"0000413545" "0000871052"
"0000462919" "0001022506"