### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAX) # 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}}" "RAX" "retina and anterior neural fold homeobox" "18" "q21.31" "unknown" "NC_000018.9" "UD_132118797272" "" "https://www.LOVD.nl/RAX" "" "1" "18662" "30062" "601881" "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/RAX_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-11-10 16:01:00" "00006" "2025-11-10 17:47:16" ## 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}}" "00017480" "RAX" "retina and anterior neural fold homeobox" "001" "NM_013435.2" "" "NP_038463.2" "" "" "" "-187" "3010" "1041" "56940625" "56934267" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00356" "MCOP" "anoophthalmia/microphthalmia" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2025-11-23 21:29:13" "03004" "MCOPS16" "microphthalmia, syndromic, type 16" "AR" "611038" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-10 16:00:36" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05431" "MCOPS" "microphthalmia, syndromic (MCOPS)" "" "" "" "" "" "00006" "2018-05-23 11:15:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RAX" "03004" "RAX" "05431" ## 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}}" "00050538" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00377810" "" "" "" "1" "" "00000" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "" "" "Mexico" "" "0" "" "" "Mexican-mestizo" "" "00377813" "" "" "" "1" "" "00000" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "" "" "Mexico" "" "0" "" "" "Mexican-mestizo" "" "00468554" "" "" "" "1" "" "00006" "{PMID:Chassaing 2014:24033328}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "Pat24" "00468555" "" "" "" "1" "" "00006" "{PMID:Chassaing 2014:24033328}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "Pat25" "00468556" "" "" "" "1" "" "00006" "{PMID:Lequeux 2008:18783408}, {PMID:Chassaing 2014:24033328}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "patient;Pat26" "00468557" "" "" "" "1" "" "00006" "{PMID:Chassaing 2014:24033328}" "2-generation family, 1 affected fetus, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "" "Pat27" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00050538" "00198" "00377810" "04214" "00377813" "04214" "00468554" "00356" "00468555" "00356" "00468556" "00356" "00468557" "00356" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00356, 03004, 04214, 05431 ## Count = 7 "{{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}}" "0000037150" "00198" "00050538" "00006" "Isolated (sporadic)" "" "microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure" "" "" "" "" "" "" "" "" "" "" "" "0000272956" "04214" "00377810" "00000" "Familial, autosomal dominant" "" "Bilateral anophthalmia Phimosis" "" "" "" "" "" "" "" "" "" "microphthalmia anophthalmia coloboma (MAC)" "" "0000272959" "04214" "00377813" "00000" "Familial, autosomal dominant" "" "Anophthalmia OD Hydrocephalus, congenital hip dislocation" "" "" "" "" "" "" "" "" "" "microphthalmia anophthalmia coloboma (MAC)" "" "0000353707" "00356" "00468554" "00006" "Familial, autosomal recessive" "4y" "microphthalmia; MRI brain normal; intellectual disability;" "" "" "" "" "" "" "" "" "MCOPS16" "anophthalmia/microphthalmia" "" "0000353708" "00356" "00468555" "00006" "Familial, autosomal recessive" "18m" "anophthalmia; MRI brain normal; no intellectual disability;" "" "" "" "" "" "" "" "" "MCOPS16" "anophthalmia/microphthalmia" "" "0000353709" "00356" "00468556" "00006" "Familial, autosomal recessive" "2y" "anophthalmia; no intellectual disability;" "" "" "" "" "" "" "" "" "MCOPS16" "anophthalmia/microphthalmia" "" "0000353710" "00356" "00468557" "00006" "Familial, autosomal recessive" "<0d" "26wg-fetus; anophthalmia; MRI brain normal;" "" "" "" "" "" "" "" "" "MCOPS16" "anophthalmia/microphthalmia" "" ## 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}}" "0000050483" "00050538" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000379014" "00377810" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "Blood" "" "0000379017" "00377813" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "Blood" "" "0000470221" "00468554" "1" "00006" "00006" "2025-11-10 17:03:53" "" "" "PCRq;SEQ" "DNA" "" "gene panel" "0000470222" "00468555" "1" "00006" "00006" "2025-11-10 17:03:53" "" "" "PCRq;SEQ" "DNA" "" "gene panel" "0000470223" "00468556" "1" "00006" "00006" "2025-11-10 17:03:53" "" "" "PCRq;SEQ" "DNA" "" "gene panel" "0000470224" "00468557" "1" "00006" "00006" "2025-11-10 17:03:53" "00006" "2025-11-10 17:44:32" "arrayCGH;PCRq;SEQ" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000379014" "RAX" "0000379017" "RAX" ## 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 = 39 "{{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}}" "0000079672" "0" "90" "18" "48362664" "78015180" "del" "0" "00006" "ATP8B1_000025" "g.48362664_78015180del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.46 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000256088" "0" "50" "18" "56940299" "56940299" "subst" "0.000119571" "01943" "RAX_000003" "g.56940299A>T" "" "" "" "RAX(NM_013435.2):c.140T>A (p.I47N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59273067A>T" "" "VUS" "" "0000306775" "0" "50" "18" "56940300" "56940300" "subst" "0.000119509" "01943" "RAX_000004" "g.56940300T>A" "" "" "" "RAX(NM_013435.2):c.139A>T (p.I47F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59273068T>A" "" "VUS" "" "0000306776" "0" "30" "18" "56940241" "56940241" "subst" "0.000101679" "01943" "RAX_000002" "g.56940241C>T" "" "" "" "RAX(NM_013435.2):c.198G>A (p.R66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59273009C>T" "" "likely benign" "" "0000306777" "0" "30" "18" "56940415" "56940415" "subst" "0.000657722" "01943" "RAX_000005" "g.56940415T>C" "" "" "" "RAX(NM_013435.2):c.24A>G (p.P8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59273183T>C" "" "likely benign" "" "0000306778" "0" "50" "18" "56936410" "56936410" "subst" "9.95372E-5" "01943" "RAX_000001" "g.56936410C>A" "" "" "" "RAX(NM_013435.2):c.867G>T (p.L289F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59269178C>A" "" "VUS" "" "0000349721" "0" "90" "18" "56936729" "56936729" "subst" "0" "02327" "RAX_000006" "g.56936729C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59269497C>T" "" "pathogenic" "" "0000565160" "0" "50" "18" "56936448" "56936453" "dup" "0" "01943" "RAX_000007" "g.56936448_56936453dup" "" "" "" "RAX(NM_013435.2):c.828_833dupACCGCC (p.P281_P282dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59269216_59269221dup" "" "VUS" "" "0000565161" "0" "50" "18" "56936459" "56936459" "subst" "0.000156239" "01943" "RAX_000008" "g.56936459C>T" "" "" "" "RAX(NM_013435.2):c.818G>A (p.S273N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59269227C>T" "" "VUS" "" "0000565162" "0" "30" "18" "56936477" "56936477" "subst" "0.000148277" "01804" "RAX_000009" "g.56936477G>A" "" "" "" "RAX(NM_013435.2):c.800C>T (p.(Ala267Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59269245G>A" "" "likely benign" "" "0000565163" "0" "30" "18" "56939850" "56939850" "subst" "0.0015063" "01943" "RAX_000010" "g.56939850G>T" "" "" "" "RAX(NM_013435.2):c.290-4C>A, RAX(NM_013435.3):c.290-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59272618G>T" "" "likely benign" "" "0000617218" "0" "30" "18" "56936329" "56936329" "subst" "0" "01943" "RAX_000011" "g.56936329G>T" "" "" "" "RAX(NM_013435.2):c.948C>A (p.D316E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59269097G>T" "" "likely benign" "" "0000617219" "0" "30" "18" "56936521" "56936521" "subst" "0" "01943" "RAX_000012" "g.56936521C>G" "" "" "" "RAX(NM_013435.2):c.756G>C (p.G252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59269289C>G" "" "likely benign" "" "0000617220" "0" "50" "18" "56936570" "56936570" "subst" "0" "01943" "RAX_000014" "g.56936570C>T" "" "" "" "RAX(NM_013435.2):c.707G>A (p.G236E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59269338C>T" "" "VUS" "" "0000617221" "0" "30" "18" "56939841" "56939841" "subst" "1.65908E-5" "01943" "RAX_000015" "g.56939841G>T" "" "" "" "RAX(NM_013435.2):c.295C>A (p.R99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59272609G>T" "" "likely benign" "" "0000623872" "0" "30" "18" "56936567" "56936567" "subst" "0.000371839" "01943" "RAX_000013" "g.56936567C>T" "" "" "" "RAX(NM_013435.2):c.710G>A (p.G237D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59269335C>T" "" "likely benign" "" "0000623873" "0" "30" "18" "56940185" "56940185" "subst" "0" "01943" "RAX_000016" "g.56940185G>A" "" "" "" "RAX(NM_013435.2):c.254C>T (p.P85L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59272953G>A" "" "likely benign" "" "0000792034" "0" "90" "18" "56940291" "56940291" "subst" "0.00228095" "00000" "RAX_000018" "g.56940291T>G" "" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "c.148a>c" "" "De novo" "" "" "0" "" "" "g.59273059T>G" "" "pathogenic" "" "0000792037" "0" "90" "18" "56939808" "56939808" "subst" "0.000114305" "00000" "RAX_000017" "g.56939808g>C" "" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "c.328c>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000808544" "0" "90" "18" "56940149" "56940149" "subst" "0" "01943" "RAX_000019" "g.56940149C>T" "" "" "" "RAX(NM_013435.2):c.289+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855338" "0" "10" "18" "56936395" "56936395" "subst" "0.238416" "02330" "RAX_000020" "g.56936395T>C" "" "" "" "RAX(NM_013435.3):c.882A>G (p.Q294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855339" "0" "30" "18" "56936414" "56936414" "subst" "0.000428889" "01943" "RAX_000021" "g.56936414G>T" "" "" "" "RAX(NM_013435.2):c.863C>A (p.P288Q), RAX(NM_013435.3):c.863C>A (p.(Pro288Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855340" "0" "10" "18" "56940307" "56940307" "subst" "0.224052" "02330" "RAX_000022" "g.56940307G>T" "" "" "" "RAX(NM_013435.3):c.132C>A (p.D44E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865734" "0" "10" "18" "56939850" "56939850" "subst" "0.0015063" "02330" "RAX_000010" "g.56939850G>T" "" "" "" "RAX(NM_013435.2):c.290-4C>A, RAX(NM_013435.3):c.290-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894615" "0" "30" "18" "56940291" "56940291" "subst" "0.00228095" "02330" "RAX_000018" "g.56940291T>G" "" "" "" "RAX(NM_013435.3):c.148A>C (p.T50P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926763" "0" "30" "18" "56940142" "56940142" "subst" "0.00162564" "02330" "RAX_000023" "g.56940142G>C" "" "" "" "RAX(NM_013435.3):c.289+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930974" "0" "30" "18" "56940242" "56940242" "subst" "0.00203631" "02330" "RAX_000024" "g.56940242C>G" "" "" "" "RAX(NM_013435.3):c.197G>C (p.R66T, p.(Arg66Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983091" "0" "50" "18" "56936414" "56936414" "subst" "0.000428889" "01804" "RAX_000021" "g.56936414G>T" "" "" "" "RAX(NM_013435.2):c.863C>A (p.P288Q), RAX(NM_013435.3):c.863C>A (p.(Pro288Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042494" "0" "50" "18" "56940242" "56940242" "subst" "0.00203631" "01804" "RAX_000024" "g.56940242C>G" "" "" "" "RAX(NM_013435.3):c.197G>C (p.R66T, p.(Arg66Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042495" "0" "50" "18" "56940383" "56940383" "subst" "0" "01804" "RAX_000025" "g.56940383C>T" "" "" "" "RAX(NM_013435.3):c.56G>A (p.(Gly19Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056352" "0" "50" "18" "56936594" "56936594" "subst" "0" "01804" "RAX_000026" "g.56936594G>C" "" "" "" "RAX(NM_013435.3):c.683C>G (p.(Pro228Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058324" "1" "90" "18" "56939658" "56939658" "subst" "0" "00006" "RAX_000033" "g.56939658A>G" "" "{PMID:Chassaing 2014:24033328}" "" "" "" "Germline" "" "" "0" "" "" "g.59272426A>G" "" "pathogenic (recessive)" "" "0001058325" "1" "90" "18" "56936717" "56936717" "subst" "0" "00006" "RAX_000032" "g.56936717C>T" "" "{PMID:Chassaing 2014:24033328}" "" "" "" "Germline" "" "" "0" "" "" "g.59269485C>T" "" "pathogenic (recessive)" "" "0001058326" "1" "90" "18" "56936613" "56936613" "del" "0" "00006" "RAX_000027" "g.56936613del" "" "{PMID:Lequeux 2008:18783408}, {PMID:Chassaing 2014:24033328}" "" "664delT" "" "Germline" "" "" "0" "" "" "g.59269381del" "" "pathogenic (recessive)" "" "0001058327" "11" "90" "18" "56936612" "56936612" "subst" "0" "00006" "RAX_000030" "g.56936612G>T" "" "{PMID:Chassaing 2014:24033328}" "" "" "" "De novo" "" "" "0" "" "" "g.59269380G>T" "" "pathogenic (recessive)" "" "0001058333" "2" "90" "18" "56936714" "56936714" "subst" "0" "00006" "RAX_000031" "g.56936714C>T" "" "{PMID:Chassaing 2014:24033328}" "" "" "" "Germline" "" "" "0" "" "" "g.59269482C>T" "" "pathogenic (recessive)" "" "0001058334" "2" "90" "18" "56936717" "56936717" "subst" "0" "00006" "RAX_000032" "g.56936717C>T" "" "{PMID:Chassaing 2014:24033328}" "" "" "" "Germline" "" "" "0" "" "" "g.59269485C>T" "" "pathogenic (recessive)" "" "0001058335" "2" "90" "18" "56936368" "56936368" "subst" "0" "00006" "RAX_000028" "g.56936368G>C" "" "{PMID:Lequeux 2008:18783408}, {PMID:Chassaing 2014:24033328}" "" "" "" "Germline" "" "" "0" "" "" "g.59269136G>C" "" "pathogenic (recessive)" "" "0001058336" "21" "90" "18" "56625489" "58370141" "del" "0" "00006" "RAX_000029" "g.(?_56625489)_(58370141_?)del" "" "{PMID:Chassaing 2014:24033328}" "" "" "" "Germline" "" "" "0" "" "hg18 18q21.32q21.32(54,776,469-56,521,121)x1" "g.(?_58958257)_(60702909_?)del" "" "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 RAX ## Count = 39 "{{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}}" "0000079672" "00017480" "00" "-8388608" "0" "8388607" "0" "c.-21074742_*8573572del" "r.0?" "p.0?" "" "0000256088" "00017480" "50" "140" "0" "140" "0" "c.140T>A" "r.(?)" "p.(Ile47Asn)" "" "0000306775" "00017480" "50" "139" "0" "139" "0" "c.139A>T" "r.(?)" "p.(Ile47Phe)" "" "0000306776" "00017480" "30" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(Arg66=)" "" "0000306777" "00017480" "30" "24" "0" "24" "0" "c.24A>G" "r.(?)" "p.(Pro8=)" "" "0000306778" "00017480" "50" "867" "0" "867" "0" "c.867G>T" "r.(?)" "p.(Leu289Phe)" "" "0000349721" "00017480" "90" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Trp183Ter)" "" "0000565160" "00017480" "50" "828" "0" "833" "0" "c.828_833dup" "r.(?)" "p.(Pro281_Pro282dup)" "" "0000565161" "00017480" "50" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Ser273Asn)" "" "0000565162" "00017480" "30" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "" "0000565163" "00017480" "30" "290" "-4" "290" "-4" "c.290-4C>A" "r.spl?" "p.?" "" "0000617218" "00017480" "30" "948" "0" "948" "0" "c.948C>A" "r.(?)" "p.(Asp316Glu)" "" "0000617219" "00017480" "30" "756" "0" "756" "0" "c.756G>C" "r.(?)" "p.(Gly252=)" "" "0000617220" "00017480" "50" "707" "0" "707" "0" "c.707G>A" "r.(?)" "p.(Gly236Glu)" "" "0000617221" "00017480" "30" "295" "0" "295" "0" "c.295C>A" "r.(?)" "p.(Arg99=)" "" "0000623872" "00017480" "30" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Gly237Asp)" "" "0000623873" "00017480" "30" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Pro85Leu)" "" "0000792034" "00017480" "90" "148" "0" "148" "0" "c.148A>C" "r.(?)" "p.(Thr50Pro)" "1" "0000792037" "00017480" "90" "328" "0" "328" "0" "c.328c>G" "r.(?)" "p.(Arg110Gly)" "2" "0000808544" "00017480" "90" "289" "1" "289" "1" "c.289+1G>A" "r.spl?" "p.?" "" "0000855338" "00017480" "10" "882" "0" "882" "0" "c.882A>G" "r.(?)" "p.(Gln294=)" "" "0000855339" "00017480" "30" "863" "0" "863" "0" "c.863C>A" "r.(?)" "p.(Pro288Gln)" "" "0000855340" "00017480" "10" "132" "0" "132" "0" "c.132C>A" "r.(?)" "p.(Asp44Glu)" "" "0000865734" "00017480" "10" "290" "-4" "290" "-4" "c.290-4C>A" "r.spl?" "p.?" "" "0000894615" "00017480" "30" "148" "0" "148" "0" "c.148A>C" "r.(?)" "p.(Thr50Pro)" "" "0000926763" "00017480" "30" "289" "8" "289" "8" "c.289+8C>G" "r.(=)" "p.(=)" "" "0000930974" "00017480" "30" "197" "0" "197" "0" "c.197G>C" "r.(?)" "p.(Arg66Thr)" "" "0000983091" "00017480" "50" "863" "0" "863" "0" "c.863C>A" "r.(?)" "p.(Pro288Gln)" "" "0001042494" "00017480" "50" "197" "0" "197" "0" "c.197G>C" "r.(?)" "p.(Arg66Thr)" "" "0001042495" "00017480" "50" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Gly19Asp)" "" "0001056352" "00017480" "50" "683" "0" "683" "0" "c.683C>G" "r.(?)" "p.(Pro228Arg)" "" "0001058324" "00017480" "90" "478" "0" "478" "0" "c.478T>C" "r.(?)" "p.(Tyr160His)" "" "0001058325" "00017480" "90" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187Gln)" "" "0001058326" "00017480" "90" "664" "0" "664" "0" "c.664del" "r.(?)" "p.(Ser222ArgfsTer63)" "" "0001058327" "00017480" "90" "665" "0" "665" "0" "c.665C>A" "r.(?)" "p.(Ser222Ter)" "" "0001058333" "00017480" "90" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188Gln)" "" "0001058334" "00017480" "90" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187Gln)" "" "0001058335" "00017480" "90" "909" "0" "909" "0" "c.909C>G" "r.(?)" "p.(Tyr303Ter)" "" "0001058336" "00017480" "90" "-1429703" "0" "311788" "0" "c.(?_-1429703)_(*310747_?)del" "r.0" "p.0" "_1_3_" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000050483" "0000079672" "0000379014" "0000792034" "0000379017" "0000792037" "0000470221" "0001058324" "0000470221" "0001058333" "0000470222" "0001058325" "0000470222" "0001058334" "0000470223" "0001058326" "0000470223" "0001058335" "0000470224" "0001058327" "0000470224" "0001058336"