### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM63A) # 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}}" "TMEM63A" "transmembrane protein 63A" "1" "q42.12" "unknown" "NC_000001.10" "UD_133485096658" "" "https://www.LOVD.nl/TMEM63A" "" "1" "29118" "9725" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TMEM63A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-10-16 03:39:00" "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}}" "00021306" "TMEM63A" "transmembrane protein 63A" "001" "NM_014698.2" "" "NP_055513.2" "" "" "" "-622" "3831" "2424" "226070420" "226033233" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "06061" "HLD19" "Leukodystrophy, hypomyelinating, 19, transient infantile" "AD" "618688" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TMEM63A" "06061" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00266189" "" "" "" "1" "" "00006" "{PMID:Yan 2019:31587869}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "European" "Pat1" "00266190" "" "" "" "1" "" "00006" "{PMID:Yan 2019:31587869}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00266191" "" "" "" "1" "" "00006" "{PMID:Yan 2019:31587869}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "China" "" "0" "" "" "" "Pat3" "00266192" "" "" "" "1" "" "00006" "{PMID:Yan 2019:31587869}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "China" "" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00266189" "00198" "00266190" "00198" "00266191" "00198" "00266192" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 06061 ## 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}}" "0000203966" "00198" "00266189" "00006" "Familial, autosomal dominant" "21y" "14d-nystagmus, resolved 5y; 20m-walk, normal language development, myopia; optic atrophy, mild ataxia; Crohn disease, one self-limiting episode of vertigo" "" "" "" "" "" "" "" "" "" "Pelizaeus-Merzbacher (like) disease" "" "0000203967" "00198" "00266190" "00006" "Familial, autosomal dominant" "18y" "1d-nystagmus, resolved 7y; 17m-walk, slightly delayed language development, myopia; mild ataxia; patent ductus arteriosus, hypospadia, abnormal brain-stem auditory evoked potential and visual evoked potential" "" "" "" "" "" "" "" "" "" "Pelizaeus-Merzbacher (like) disease" "" "0000203968" "00198" "00266191" "00006" "Familial, autosomal dominant" "5y" "10d-nystagmus, resolved 12m; 26m-walk, normal language development, no myopia; unclear pronunciation" "" "" "" "" "" "" "" "" "" "Pelizaeus-Merzbacher (like) disease" "" "0000203969" "00198" "00266192" "00006" "Familial, autosomal dominant" "4y" "1d-nystagmus, resolved 14m; 36m-walk, delayed language development, myopia; bilateral Babinski sign, unclear pronunciation; abnormal brain-stem auditory evoked potential and visual evoked potential" "" "" "" "" "" "" "" "" "" "Pelizaeus-Merzbacher (like) disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000267310" "00266189" "1" "00006" "00006" "2019-10-16 03:56:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267311" "00266190" "1" "00006" "00006" "2019-10-16 03:56:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267312" "00266191" "1" "00006" "00006" "2019-10-16 03:56:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267313" "00266192" "1" "00006" "00006" "2019-10-16 03:56:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000267310" "TMEM63A" "0000267311" "TMEM63A" "0000267312" "TMEM63A" "0000267313" "TMEM63A" ## 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 = 42 "{{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}}" "0000248770" "0" "10" "1" "226026406" "226026406" "subst" "0.186987" "02325" "EPHX1_000008" "g.226026406A>G" "" "" "" "EPHX1(NM_000120.4):c.416A>G (p.H139R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225838705A>G" "" "benign" "" "0000267855" "0" "10" "1" "226032229" "226032229" "subst" "0.106186" "02325" "EPHX1_000004" "g.226032229C>T" "" "" "" "EPHX1(NM_000120.4):c.1071C>T (p.N357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225844528C>T" "" "benign" "" "0000321314" "0" "30" "1" "226026573" "226026573" "subst" "0.000873146" "01804" "EPHX1_000002" "g.226026573T>C" "" "" "" "EPHX1(NM_000120.3):c.583T>C (p.(Ser195Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225838872T>C" "" "likely benign" "" "0000321315" "0" "30" "1" "226027735" "226027735" "subst" "0.000260383" "01804" "EPHX1_000003" "g.226027735G>A" "" "" "" "EPHX1(NM_000120.3):c.928G>A (p.(Val310Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.225840034G>A" "" "likely benign" "" "0000505693" "0" "50" "1" "226016576" "226016576" "subst" "0" "02325" "EPHX1_000005" "g.226016576G>A" "" "" "" "EPHX1(NM_001291163.2):c.146G>A (p.R49H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.225828875G>A" "" "VUS" "" "0000505694" "0" "30" "1" "226026352" "226026352" "subst" "0.000869118" "01804" "EPHX1_000006" "g.226026352C>A" "" "" "" "EPHX1(NM_000120.3):c.365-3C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.225838651C>A" "" "likely benign" "" "0000505695" "0" "50" "1" "226026510" "226026510" "subst" "4.06062E-6" "02325" "EPHX1_000007" "g.226026510G>A" "" "" "" "EPHX1(NM_001291163.2):c.520G>A (p.D174N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.225838809G>A" "" "VUS" "" "0000598368" "0" "90" "1" "226041428" "226041428" "subst" "0" "00006" "TMEM63A_000002" "g.226041428C>T" "" "{PMID:Yan 2019:31587869}" "" "" "" "De novo" "" "" "0" "" "" "g.225853727C>T" "" "pathogenic (dominant)" "" "0000598369" "11" "90" "1" "226041428" "226041428" "subst" "0" "00006" "TMEM63A_000002" "g.226041428C>T" "" "{PMID:Yan 2019:31587869}" "" "" "" "Germline" "" "" "0" "" "" "g.225853727C>T" "" "pathogenic (dominant)" "" "0000598370" "0" "90" "1" "226044710" "226044710" "subst" "0" "00006" "TMEM63A_000003" "g.226044710A>T" "" "{PMID:Yan 2019:31587869}" "" "" "" "De novo" "" "" "0" "" "" "g.225857010A>T" "" "pathogenic (dominant)" "" "0000598371" "0" "90" "1" "226055599" "226055599" "subst" "0" "00006" "TMEM63A_000004" "g.226055599C>T" "" "{PMID:Yan 2019:31587869}" "" "" "" "De novo" "" "" "0" "" "" "g.225867899C>T" "" "pathogenic (dominant)" "" "0000605224" "0" "30" "1" "226034856" "226034858" "dup" "0" "01804" "TMEM63A_000001" "g.226034856_226034858dup" "" "" "" "TMEM63A(NM_014698.2):c.2325_2326insCAG (p.(Gln775dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.225847155_225847157dup" "" "likely benign" "" "0000688042" "0" "50" "1" "226027029" "226027029" "subst" "0.000105627" "02325" "EPHX1_000009" "g.226027029T>C" "" "" "" "EPHX1(NM_000120.4):c.704T>C (p.M235T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717218" "0" "50" "1" "226019507" "226019507" "subst" "0.000247704" "02325" "EPHX1_000010" "g.226019507C>T" "" "" "" "EPHX1(NM_000120.4):c.211C>T (p.R71C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717219" "0" "50" "1" "226026972" "226026972" "subst" "0.000223352" "01943" "EPHX1_000011" "g.226026972G>A" "" "" "" "EPHX1(NM_001291163.1):c.647G>A (p.G216D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799140" "0" "30" "1" "226027578" "226027578" "subst" "0" "01943" "EPHX1_000012" "g.226027578C>G" "" "" "" "EPHX1(NM_001291163.1):c.771C>G (p.F257L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799141" "0" "50" "1" "226041407" "226041407" "subst" "0" "02325" "EPHX1_000013" "g.226041407G>A" "" "" "" "TMEM63A(NM_014698.3):c.1720C>T (p.R574W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848567" "0" "30" "1" "226019599" "226019599" "subst" "0.00152683" "01943" "EPHX1_000014" "g.226019599T>C" "" "" "" "EPHX1(NM_001291163.1):c.303T>C (p.F101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883179" "0" "30" "1" "226034879" "226034879" "subst" "0.000281794" "02325" "EPHX1_000015" "g.226034879C>T" "" "" "" "TMEM63A(NM_014698.3):c.2286G>A (p.S762=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883180" "0" "30" "1" "226044419" "226044419" "subst" "8.13041E-5" "02325" "EPHX1_000016" "g.226044419A>G" "" "" "" "TMEM63A(NM_014698.3):c.1505T>C (p.M502T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883181" "0" "70" "1" "226047041" "226047042" "del" "0" "02327" "EPHX1_000017" "g.226047041_226047042del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000883182" "0" "30" "1" "226074594" "226074594" "subst" "0.000977223" "02325" "EPHX1_000018" "g.226074594C>T" "" "" "" "LEFTY1(NM_020997.4):c.934G>A (p.G312R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973713" "0" "50" "1" "226034847" "226034858" "dup" "0" "01804" "EPHX1_000019" "g.226034847_226034858dup" "" "" "" "TMEM63A(NM_014698.3):c.2314_2325dup (p.(Gln772_Gln775dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973714" "0" "30" "1" "226034850" "226034858" "dup" "0" "01804" "EPHX1_000020" "g.226034850_226034858dup" "" "" "" "TMEM63A(NM_014698.3):c.2317_2325dup (p.(Gln773_Gln775dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973715" "0" "30" "1" "226035911" "226035911" "subst" "0" "01804" "EPHX1_000021" "g.226035911C>A" "" "" "" "TMEM63A(NM_014698.3):c.2250+282G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973716" "0" "30" "1" "226037685" "226037685" "subst" "0.000198977" "01804" "EPHX1_000022" "g.226037685C>T" "" "" "" "TMEM63A(NM_014698.3):c.1999G>A (p.(Ala667Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973717" "0" "30" "1" "226041322" "226041322" "subst" "0" "01804" "EPHX1_000023" "g.226041322G>C" "" "" "" "TMEM63A(NM_014698.3):c.1797+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973718" "0" "30" "1" "226041377" "226041377" "subst" "0.000956003" "01804" "EPHX1_000024" "g.226041377G>A" "" "" "" "TMEM63A(NM_014698.3):c.1750C>T (p.(Arg584Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973719" "0" "50" "1" "226044442" "226044442" "subst" "0" "01804" "EPHX1_000025" "g.226044442G>A" "" "" "" "TMEM63A(NM_014698.3):c.1485-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973720" "0" "50" "1" "226054304" "226054305" "del" "0" "01804" "EPHX1_000026" "g.226054304_226054305del" "" "" "" "TMEM63A(NM_014698.3):c.645_646del (p.(Gln216ValfsTer3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990898" "0" "50" "1" "226033040" "226033040" "subst" "1.26431E-5" "01804" "EPHX1_000027" "g.226033040C>T" "" "" "" "EPHX1(NM_001136018.2):c.1360C>T (p.(Arg454Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990899" "0" "50" "1" "226034817" "226034819" "del" "0" "01804" "EPHX1_000028" "g.226034817_226034819del" "" "" "" "TMEM63A(NM_014698.2):c.2348_2350delTCA (p.(Ile783del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990900" "0" "30" "1" "226034920" "226034920" "subst" "0.00417436" "01804" "EPHX1_000029" "g.226034920A>G" "" "" "" "TMEM63A(NM_014698.2):c.2251-6T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990901" "0" "50" "1" "226040407" "226040407" "subst" "4.46704E-5" "01804" "EPHX1_000030" "g.226040407T>A" "" "" "" "TMEM63A(NM_014698.2):c.1861A>T (p.(Ile621Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990902" "0" "30" "1" "226050476" "226050476" "subst" "3.24965E-5" "01804" "EPHX1_000031" "g.226050476C>G" "" "" "" "TMEM63A(NM_014698.2):c.822G>C (p.(Lys274Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990903" "0" "50" "1" "226055608" "226055608" "subst" "1.2183E-5" "01804" "EPHX1_000032" "g.226055608T>C" "" "" "" "TMEM63A(NM_014698.2):c.494A>G (p.(Asn165Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031753" "0" "30" "1" "226016491" "226016491" "subst" "1.21926E-5" "01804" "EPHX1_000033" "g.226016491C>T" "" "" "" "EPHX1(NM_001136018.4):c.61C>T (p.(Arg21Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031754" "0" "30" "1" "226016575" "226016575" "subst" "0.00140341" "01804" "EPHX1_000034" "g.226016575C>T" "" "" "" "EPHX1(NM_001136018.4):c.145C>T (p.(Arg49Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031755" "0" "30" "1" "226040477" "226040477" "subst" "0" "01804" "EPHX1_000035" "g.226040477G>C" "" "" "" "TMEM63A(NM_014698.3):c.1798-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031756" "0" "50" "1" "226041445" "226041445" "subst" "0" "02325" "EPHX1_000036" "g.226041445A>G" "" "" "" "TMEM63A(NM_014698.3):c.1682T>C (p.I561T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031757" "0" "30" "1" "226041480" "226041480" "subst" "0.000484134" "01804" "EPHX1_000037" "g.226041480C>G" "" "" "" "TMEM63A(NM_014698.3):c.1647G>C (p.(Leu549=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031758" "0" "50" "1" "226065077" "226065088" "del" "8.29497E-6" "01804" "EPHX1_000038" "g.226065077_226065088del" "" "" "" "TMEM63A(NM_014698.3):c.186+7_186+18del" "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 TMEM63A ## Count = 42 "{{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}}" "0000248770" "00021306" "10" "10658" "0" "10658" "0" "c.*8234T>C" "r.(=)" "p.(=)" "" "0000267855" "00021306" "10" "4835" "0" "4835" "0" "c.*2411G>A" "r.(=)" "p.(=)" "" "0000321314" "00021306" "30" "10491" "0" "10491" "0" "c.*8067A>G" "r.(=)" "p.(=)" "" "0000321315" "00021306" "30" "9329" "0" "9329" "0" "c.*6905C>T" "r.(=)" "p.(=)" "" "0000505693" "00021306" "50" "20488" "0" "20488" "0" "c.*18064C>T" "r.(=)" "p.(=)" "" "0000505694" "00021306" "30" "10712" "0" "10712" "0" "c.*8288G>T" "r.(=)" "p.(=)" "" "0000505695" "00021306" "50" "10554" "0" "10554" "0" "c.*8130C>T" "r.(=)" "p.(=)" "" "0000598368" "00021306" "90" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Gly567Ser)" "" "0000598369" "00021306" "90" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Gly567Ser)" "" "0000598370" "00021306" "90" "1385" "0" "1385" "0" "c.1385T>A" "r.(?)" "p.(Ile462Asn)" "" "0000598371" "00021306" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Gly168Glu)" "" "0000605224" "00021306" "30" "2323" "0" "2325" "0" "c.2323_2325dup" "r.(?)" "p.(Gln775dup)" "" "0000688042" "00021306" "50" "10035" "0" "10035" "0" "c.*7611A>G" "r.(=)" "p.(=)" "" "0000717218" "00021306" "50" "17557" "0" "17557" "0" "c.*15133G>A" "r.(=)" "p.(=)" "" "0000717219" "00021306" "50" "10092" "0" "10092" "0" "c.*7668C>T" "r.(=)" "p.(=)" "" "0000799140" "00021306" "30" "9486" "0" "9486" "0" "c.*7062G>C" "r.(=)" "p.(=)" "" "0000799141" "00021306" "50" "1720" "0" "1720" "0" "c.1720C>T" "r.(?)" "p.(Arg574Trp)" "" "0000848567" "00021306" "30" "17465" "0" "17465" "0" "c.*15041A>G" "r.(=)" "p.(=)" "" "0000883179" "00021306" "30" "2286" "0" "2286" "0" "c.2286G>A" "r.(?)" "p.(Ser762=)" "" "0000883180" "00021306" "30" "1505" "0" "1505" "0" "c.1505T>C" "r.(?)" "p.(Met502Thr)" "" "0000883181" "00021306" "70" "1235" "0" "1236" "0" "c.1235_1236del" "r.(?)" "p.(Ser412Tyrfs*38)" "" "0000883182" "00021306" "30" "-4796" "0" "-4796" "0" "c.-4796G>A" "r.(?)" "p.(=)" "" "0000973713" "00021306" "50" "2314" "0" "2325" "0" "c.2314_2325dup" "r.(?)" "p.(Gln772_Gln775dup)" "" "0000973714" "00021306" "30" "2317" "0" "2325" "0" "c.2317_2325dup" "r.(?)" "p.(Gln773_Gln775dup)" "" "0000973715" "00021306" "30" "2250" "282" "2250" "282" "c.2250+282G>T" "r.(=)" "p.(=)" "" "0000973716" "00021306" "30" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Ala667Thr)" "" "0000973717" "00021306" "30" "1797" "8" "1797" "8" "c.1797+8C>G" "r.(=)" "p.(=)" "" "0000973718" "00021306" "30" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Cys)" "" "0000973719" "00021306" "50" "1485" "-3" "1485" "-3" "c.1485-3C>T" "r.spl?" "p.?" "" "0000973720" "00021306" "50" "645" "0" "646" "0" "c.645_646del" "r.(?)" "p.(Gln216Valfs*3)" "" "0000990898" "00021306" "50" "4024" "0" "4024" "0" "c.*1600G>A" "r.(=)" "p.(=)" "" "0000990899" "00021306" "50" "2348" "0" "2350" "0" "c.2348_2350del" "r.(?)" "p.(Ile783del)" "" "0000990900" "00021306" "30" "2251" "-6" "2251" "-6" "c.2251-6T>C" "r.(=)" "p.(=)" "" "0000990901" "00021306" "50" "1861" "0" "1861" "0" "c.1861A>T" "r.(?)" "p.(Ile621Phe)" "" "0000990902" "00021306" "30" "822" "0" "822" "0" "c.822G>C" "r.(?)" "p.(Lys274Asn)" "" "0000990903" "00021306" "50" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Asn165Ser)" "" "0001031753" "00021306" "30" "20573" "0" "20573" "0" "c.*18149G>A" "r.(=)" "p.(=)" "" "0001031754" "00021306" "30" "20489" "0" "20489" "0" "c.*18065G>A" "r.(=)" "p.(=)" "" "0001031755" "00021306" "30" "1798" "-7" "1798" "-7" "c.1798-7C>G" "r.(=)" "p.(=)" "" "0001031756" "00021306" "50" "1682" "0" "1682" "0" "c.1682T>C" "r.(?)" "p.(Ile561Thr)" "" "0001031757" "00021306" "30" "1647" "0" "1647" "0" "c.1647G>C" "r.(?)" "p.(=)" "" "0001031758" "00021306" "50" "186" "7" "186" "18" "c.186+7_186+18del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000267310" "0000598368" "0000267311" "0000598369" "0000267312" "0000598370" "0000267313" "0000598371"