### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANTXR1) # 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}}" "ANTXR1" "anthrax toxin receptor 1" "2" "p13.1" "unknown" "NC_000002.11" "UD_132118932198" "" "https://www.LOVD.nl/ANTXR1" "" "1" "21014" "84168" "606410" "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/ANTXR1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-29 15:53:09" "00000" "2026-01-20 18:57:21" ## 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}}" "00002596" "ANTXR1" "transcript variant 1" "001" "NM_032208.2" "" "NP_115584.1" "" "" "" "-356" "5537" "1695" "69240276" "69476459" "" "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" "01805" "GAPOS" "GAPO syndrome" "AR" "230740" "" "typical facies, failure to thrive, short stature, sparse dentition, alopecia or sparse hair growth, optic atrophy (0.5)" "" "00006" "2014-09-25 23:29:40" "00006" "2025-12-29 15:55:07" "02415" "HCI" "hemangioma, capillary infantile (HCI)" "AD" "602089" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-12 11:46:00" "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}}" "ANTXR1" "01805" "ANTXR1" "02415" ## Individuals ## Do not remove or alter this header ## ## Count = 33 "{{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}}" "00471649" "" "" "" "1" "" "00006" "{PMID:Stranecky 2013:23602711}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Czech Republic" "" "0" "" "" "" "Pat1" "00471650" "" "" "" "1" "" "00006" "{PMID:Stranecky 2013:23602711}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Egypt" "" "0" "" "" "" "Pat2" "00471651" "" "" "" "3" "" "00006" "{PMID:Stranecky 2013:23602711}" "6-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Egypt" "" "0" "" "" "" "Pat3" "00471652" "" "" "" "1" "" "00006" "{PMID:Stranecky 2013:23602711}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Sri Lanka" "" "0" "" "" "" "Pat4" "00471653" "" "" "" "1" "" "00006" "{PMID:Bozkurt 2013:23494824}, {PMID:Bayram 2014:25045128}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "Fam1Pat1;FamHOU2001PatBAB5033" "00471654" "" "" "" "3" "" "00006" "{PMID:Bozkurt 2013:23494824}, {PMID:Bayram 2014:25045128}" "4-generation family, 3 affected (2 brothers/sister), unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam2Pat2;FamHOU2034BAB5141" "00471655" "" "" "00471654" "1" "" "00006" "{PMID:Bozkurt 2013:23494824}, {PMID:Bayram 2014:25045128}" "brother" "M" "yes" "Turkey" "" "0" "" "" "" "Fam2Pat3FamHOU2034BAB5142" "00471656" "" "" "00471654" "1" "" "00006" "{PMID:Bozkurt 2013:23494824}, {PMID:Bayram 2014:25045128}" "sister" "F" "yes" "Turkey" "" "0" "" "" "" "Fam2Pat4;FamHOU2034BAB5143" "00471657" "" "" "" "3" "" "00006" "{PMID:Ilker 1999:10197743}, {PMID:Bayram 2014:25045128}" "4-generation family, 3 affected (brother/sister/cousin)" "M" "yes" "Turkey" "" "0" "" "" "" "FamPatIV6;FamHOU2085BAB5348" "00471658" "" "" "00471657" "1" "" "00006" "{PMID:Ilker 1999:10197743}, {PMID:Bayram 2014:25045128}" "paternal cousin" "M" "yes" "Turkey" "" "0" "" "" "" "FamPatIV6;FamHOU2085BAB5349" "00471659" "" "" "00471657" "1" "" "00006" "{PMID:Ilker 1999:10197743}" "sister" "F" "yes" "Turkey" "" "0" "" "" "" "FamPatIV10" "00471660" "" "" "" "1" "" "00006" "{PMID:Benetti-Pinto 2016:27426988}" "patient" "F" "yes" "Brazil" "" "0" "" "" "" "patient" "00471661" "" "" "" "2" "" "00006" "{PMID:Salas-Alanís 2016:27587992}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Mexico" "" "0" "" "" "" "FamPatII1" "00471662" "" "" "00471661" "1" "" "00006" "{PMID:Salas-Alanís 2016:27587992}" "brother" "M" "" "Mexico" "" "0" "" "" "" "FamPatII2" "00471663" "" "" "" "1" "" "00006" "{PMID:Chattopadhyay 2017:28870703}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "India" "" "0" "" "" "" "FamPatV2" "00471664" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2019:30575274}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam1Pat1" "00471665" "" "" "" "2" "" "00006" "{PMID:Abdel-Hamid 2019:30575274}, {PMID:El-Moataz Bellah Ahmed 2024:39286584}" "4-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam2Pat2; Pat3" "00471666" "" "" "00471665" "1" "" "00006" "{PMID:Abdel-Hamid 2019:30575274}" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "Fam2Pat3" "00471667" "" "" "" "2" "" "00006" "{PMID:Abdel-Hamid 2019:30575274}" "4-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam3Pat4" "00471668" "" "" "00471667" "1" "" "00006" "{PMID:Abdel-Hamid 2019:30575274}" "brother" "M" "yes" "Egypt" "" "0" "" "" "" "Fam3Pat5" "00471669" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2019:30575274}" "5-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam4Pat6" "00471670" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2019:30575274}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam5Pat7" "00471671" "" "" "" "1" "" "00006" "{PMID:Dinckan 2018:29436111}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "patient" "00471672" "" "" "" "2" "" "00006" "{PMID:Yildiz 2022:36094357}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "FamPatII3" "00471673" "" "" "00471672" "1" "" "00006" "{PMID:Yildiz 2022:36094357}" "sister" "F" "yes" "Turkey" "" "0" "" "" "" "FamPatII5" "00471674" "" "" "" "2" "" "00006" "{PMID:Damagatla 2024:38691016}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "no" "India" "" "0" "" "" "" "FamPatIII2" "00471675" "" "" "00471674" "1" "" "00006" "{PMID:Damagatla 2024:38691016}" "sister" "F" "no" "India" "" "0" "" "" "" "FamPatIII3" "00471676" "" "" "" "1" "" "00006" "{PMID:Balakrishnan 2024:38423276}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "" "patient" "00471677" "" "" "" "1" "" "00006" "{PMID:Modafferi 2025:40962491}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Italy" "" "0" "" "" "" "patient" "00471678" "" "" "" "2" "" "00006" "{PMID:El-Moataz Bellah Ahmed 2024:39286584}" "4-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Egypt" "" "0" "" "" "" "FamPatIV1" "00471679" "" "" "00471678" "1" "" "00006" "{PMID:El-Moataz Bellah Ahmed 2024:39286584}" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "FamPatIV4" "00471680" "" "" "" "1" "" "00006" "{PMID:Jinnin 2008:18931684}" "" "" "" "United States" "" "0" "" "" "" "patient" "00471681" "" "" "" "1" "" "00006" "{PMID:Smigiel 2019:31425299}" "2-generation family, 1 affected, unaffected heterozygous carrier mother, unaffected non-carrier father" "F" "" "Poland" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 33 "{{individualid}}" "{{diseaseid}}" "00471649" "05611" "00471650" "05611" "00471651" "05611" "00471652" "05611" "00471653" "05611" "00471654" "05611" "00471655" "05611" "00471656" "05611" "00471657" "05611" "00471658" "05611" "00471659" "05611" "00471660" "05611" "00471661" "05611" "00471662" "05611" "00471663" "05611" "00471664" "05611" "00471665" "05611" "00471666" "05611" "00471667" "05611" "00471668" "05611" "00471669" "05611" "00471670" "05611" "00471671" "05611" "00471672" "05611" "00471673" "05611" "00471674" "05611" "00471675" "05611" "00471676" "05611" "00471677" "05611" "00471678" "05611" "00471679" "05611" "00471680" "00198" "00471681" "01805" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01805, 02415, 05611 ## Count = 33 "{{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}}" "0000356456" "05611" "00471649" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., height SD-4, OFC SD-2; normal bone age; plagiocephaly, frontal bossing, broad forehead, enlarged persistent anterior fontanel, widely spaced eyes, no epicantus, epressed nasal bridge, short nose, long philtrum, thick and anteverted nares, thick lower lip, micrognathia, pseudoanodontia; sparse scalp hair (alopecia), no scalp pigmented with scars and papules, sparse eyebrows and eyelashes; megalocornea, no nystagmus, esotropia, shallow anterior chamber, bilateral engorged tortuous retinal vessels, bilateral optic atrophy, abnormal visual-evoked potential; umbilical hernia; no hyperextensible joints; no mild webbing between fingers; no facial nerve palsy" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356457" "05611" "00471650" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., height SD-2, OFC SD-2; delayed bone age; plagiocephaly, frontal bossing, broad forehead, enlarged persistent anterior fontanel, widely spaced eyes, epicantus, epressed nasal bridge, short nose, long philtrum, thick and anteverted nares, thick lower lip, micrognathia, pseudoanodontia; sparse scalp hair (alopecia), no scalp pigmented with scars and papules, sparse eyebrows and eyelashes; megalocornea, nystagmus, esotropia, no shallow anterior chamber, no bilateral engorged tortuous retinal vessels, bilateral optic atrophy, abnormal visual-evoked potential; umbilical hernia ; hyperextensible joints; no mild webbing between fingers; facial nerve palsy; MRI brain bilateral high signal deep white matter at deep parietal/occipital region and around optic nerve" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356458" "05611" "00471651" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., height SD-3.7, OFC SD+2; mild delayed bone age; plagiocephaly, frontal bossing, broad forehead, enlarged persistent anterior fontanel, widely spaced eyes, epicantus, epressed nasal bridge, short nose, long philtrum, thick and anteverted nares, thick lower lip, micrognathia, pseudoanodontia; sparse scalp hair (alopecia), scalp pigmented with scars and papules, sparse eyebrows and eyelashes; megalocornea, no nystagmus, no esotropia, shallow anterior chamber, bilateral engorged tortuous retinal vessels, no bilateral optic atrophy, normal visual-evoked potential; umbilical hernia; no hyperextensible joints; mild webbing between fingers; no facial nerve palsy" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356459" "05611" "00471652" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., height SD-4, OFC SD+1; delayed bone age; no plagiocephaly, frontal bossing, broad forehead, enlarged persistent anterior fontanel, widely spaced eyes, epicantus, epressed nasal bridge, short nose, long philtrum, thick and anteverted nares, thick lower lip, micrognathia, pseudoanodontia; sparse scalp hair (alopecia), no scalp pigmented with scars and papules, sparse eyebrows and eyelashes; nystagmus, no esotropia, bilateral engorged tortuous retinal vessels, bilateral optic atrophy; no umbilical hernia; hyperextensible joints; no mild webbing between fingers; no facial nerve palsy" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356460" "05611" "00471653" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; delayed closure anterior fontanel; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; glaucoma; no myelinated nerve fiber layer; keratopathy; depressed nasal bridge, short nose, anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia ; breast hypoplasia, nipple hypoplasia; umblical hernia; hepatomegaly" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356461" "05611" "00471654" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; delayed closure anterior fontanel; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; no optic atrophy; no glaucoma; myelinated nerve fiber layer; no keratopathy; depressed nasal bridge, short nose, anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia ; breast hypoplasia, nipple hypoplasia; umblical hernia; no hepatomegaly" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356462" "05611" "00471655" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; delayed closure anterior fontanel; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; optic atrophy; no glaucoma; myelinated nerve fiber layer; no keratopathy; depressed nasal bridge, short nose, anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia ; breast hypoplasia, nipple hypoplasia; umblical hernia; no hepatomegaly" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356463" "05611" "00471656" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; delayed closure anterior fontanel; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; glaucoma; no myelinated nerve fiber layer; keratopathy; depressed nasal bridge, short nose, anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia; breast hypoplasia, nipple hypoplasia; no umblical hernia; no hepatomegaly" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356464" "05611" "00471657" "00006" "Familial, autosomal recessive" "42y" "see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; no optic atrophy; glaucoma; no keratopathy; depressed nasal bridge, short nose, anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356465" "05611" "00471658" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; no optic atrophy; glaucoma; keratopathy; depressed nasal bridge, no short nose, no anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356466" "05611" "00471659" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., typical facies, papilla edema, bossed forehead, sparse eyebrows, sparse eyelashes, white eyelashes, hypertelorism, prominent globes, swollen eyelids" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356467" "05611" "00471660" "00006" "Familial, autosomal recessive" "30y" "see paper; ..., menstrual irregularities; 14y-pubarche, thelarche; 15y-menarche; no diabetes, no hypertension, no endocrine disease; short stature, alopecia aerata, pseudoanodontia, epicanthic fold, hypertelorism, sparse eyebrows, sparse eyelashes, very protuberant lower lip; ocular anomalies glaucoma, mild ectropion, lagophthalmos, hypermetropy" "" "" "" "" "" "" "" "" "GAPOS" "premature ovarian insufficiency" "" "0000356468" "05611" "00471661" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., typical facies, saddle nose, thick eyelids, thick lips, dwarfism, hypotrichosis, strabismus, shallow orbits, protruding auricles, prominent supraorbital ridges, high forehead, bossed forehead, small face with dysplasia" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356469" "05611" "00471662" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., ttypical facies, saddle nose, thick eyelids, thick lips, dwarfism, hypotrichosis, strabismus, shallow orbits, protruding auricles, prominent supraorbital ridges, high forehead, bossed forehead, small face with dysplasia" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356470" "05611" "00471663" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., growth retardation, height 1.07m; wide anterior fontanel, delayed closure of fontanel, frontal bossing, no micrognathia, protruding ears; optic atrophy; no glaucoma, no nystagmus, no keratoconus; depressed nasal bridge, thick full lips; pseudoanodontia; no breast hypoplasia, nipple hypoplasia; umbilical hernia; delayed bone age; prominent scalp veins; no scalp hair, alopecia, severe hypotrichosis" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356471" "05611" "00471664" "00006" "Familial, autosomal recessive" "6y6m" "see paper; ..., alopecia, sparse hair; dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; bilateral glaucoma; no keratopathy; height −4 SD, weight −2.2 SD, OFC −4 SD; no hepatomegaly; umblical hernia; joint hyperextensibility" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356472" "05611" "00471665" "00006" "Familial, autosomal recessive" "5y6m" "see paper; ..., alopecia, sparse hair; dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; bilateral glaucoma; no keratopathy; height −2 SD, weight −4 SD, OFC −2 SD; no hepatomegaly; umblical hernia; joint hyperextensibility" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356473" "05611" "00471666" "00006" "Familial, autosomal recessive" "2y10m" "see paper; ..., alopecia, sparse hair; dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; bilateral glaucoma; no keratopathy; height −2.5 SD, weight −2.7 SD, OFC −2 SD; no hepatomegaly; umblical hernia; joint hyperextensibility" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356474" "05611" "00471667" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., alopecia, sparse hair; dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; unilateral glaucoma; no keratopathy; height −3.2 SD, weight −0.85 SD, OFC −3.21 SD; hepatomegaly; umblical hernia; joint hyperextensibility" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356475" "05611" "00471668" "00006" "Familial, autosomal recessive" "2y4m" "see paper; ..., alopecia, sparse hair; no dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; unilateral glaucoma; no keratopathy; height −4.66 SD, weight −2.78 SD, OFC −3.04 SD; no hepatomegaly; umblical hernia; joint hyperextensibility" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356476" "05611" "00471669" "00006" "Familial, autosomal recessive" "1y9m" "see paper; ..., alopecia, sparse hair; dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; bilateral glaucoma; no keratopathy; height −3.0 SD, weight −2.80 SD, OFC −0.38 SD; no hepatomegaly; umblical hernia; joint hyperextensibility" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356477" "05611" "00471670" "00006" "Familial, autosomal recessive" "3y8m" "see paper; ..., alopecia, sparse hair; dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; papilledema; bilateral glaucoma; keratopathy; height −5.3 SD, weight −1 SD, OFC −2 SD; no hepatomegaly; umblical hernia; joint hyperextensibility" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356478" "05611" "00471671" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., absence lower anterior teeth; 2d-surgery anal atresia; 1y6m-surgery ankyloglossia; 7y-mild brachycephaly, low hanging columella, hypoplastic alae nasi, retrognathia; 7y-height 123 cm (50-75th), weight 22 kg (25-50th), OFC 52 cm (25th); 10y-oligodontia (absence lower incisors/canines/two upper premolars/all four lower premolars)" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356479" "05611" "00471672" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., no craniosynostosis; alopecia; dilated scalp vens; frontal bossing; puffy eyelids; sparse eyebrows and eyelashes; optic atrophy or paleness; no glaucoma; no keratopathy; depressed nasal bridge; short nose; long philtrum; full lips; pseudoanodontia; micrognathia; no umbilical hernia; growth retardation; growth retardation; inguinal hernia" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356480" "05611" "00471673" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., no craniosynostosis; alopecia; dilated scalp vens; frontal bossing; puffy eyelids; sparse eyebrows and eyelashes; optic atrophy or paleness; no glaucoma; no keratopathy; depressed nasal bridge; short nose; long philtrum; full lips; pseudoanodontia; micrognathia; no umbilical hernia; growth retardation; growth retardation; no inguinal hernia" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356481" "05611" "00471674" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., flat nasal bridge, telecanthus, protruding tongue; buphthalmos, megalocornea, hypertelorism, no eyelashes" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356482" "05611" "00471675" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., 8y-vision loss, eyes excess watering, severe pain both eyes; alopecia universalis, cranial dysmorphology, frontal bossing, coarse face, depressed nasal bridge, long philtrum, everted lower lip vermilion, wide open mouth, protruded tongue, anodontia; hypertelorism, buphthalomos, sparse eyelashes, axial proptosis, congenital total cataract right; repetitive behavior, laughing face (laughs continuously); short stature; hyperextensible skin; alopecia universalis" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356483" "05611" "00471676" "00006" "Familial, autosomal recessive" "3y9m" "see paper; ..., short stature, dysmorphism, sparse hair growth, no appropriate dentition; birth respiratory distress, macrocephaly, macrosomia; sagittal craniosynostosis, scaphocephaly, right club foot; reduced length all long bones; bilateral choroid plexus cysts; 3y9m-OFC 49.5 cms(-1.1 Z), height 82 cm (−4.5 Z), weight 12 kg (−2.2 Z); turri-macrocephaly, sparse hair growth, few coarse/dry/rough hair, mid-facial hypoplasia, sparse flared eyebrows, puffy eyelids, bilateral epicanthus, depressed nasal bridge, short/bulbous nose flattened alae, long smooth philtrum, open mouth appearance, protruding tongue, thick everted lips, sparse dentition, micrognathia, low set anteverted/large ears with, large ear lobules, excessive laxity skin, prominence of facial folds, saggy/lax cheeks" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356484" "05611" "00471677" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., typical facies;failure to thrive, short stature;;sparse dentition; alopecia or sparse hair growth; optic atrophy; no umbilical hernia; no glaucoma; preserved intellect/development; no prominent scalp veins; no progeroid features; no delayed bone age; excessive laxity skin; short upper limbs, short lower limbs; no reduced length all long bones; no RX bone dysplasia; no joint hyperextensibility; no increased corneal diameters; no keratopathy; no strabismus" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356485" "05611" "00471678" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., 15y-retained deciduous teeth; dysmorphic facies, thick lips, hypertelorism, mild puffiness eyelids, depressed nasal bridge, hyperextensibility joints, broad forehead, frontal bossing, sparse eyebrows, sparse hair, lose her hair in androgenic-like manner; optic atrophy" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356486" "05611" "00471679" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., 8y-retained deciduous teeth; dysmorphic facies, mild puffiness eyelids, depressed nasal bridge, hyperextensibility joints, broad forehead, frontal bossing, sparse eyebrows, sparse hair; no optic atrophy" "" "" "" "" "" "" "" "" "GAPOS" "GAPO syndrome" "" "0000356487" "00198" "00471680" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hemangioma" "" "0000356488" "01805" "00471681" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., birth C-section, uneventful pregnancy, weight 3650g (50th–85th), length 52cm (85th–97th), OFC 35cm (85th), disproportionate short stature (short upper/lower limbs), facial dysmorphic (macrocephaly, coarse face, saddle nose, wide nasal bridge); delayed closure anterior fontanelle, alopecia, pseudoanodontia; 4y-short stature, excessive hair growth on back, disproportion proximal location extremities, hypotonic joints, alopecia more intense, teeth eruption delay, oligodontia" "" "" "" "" "" "" "" "" "GAPOS" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 33 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000473319" "00471649" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473320" "00471650" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473321" "00471651" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473322" "00471652" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473323" "00471653" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473324" "00471654" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473325" "00471655" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473326" "00471656" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473327" "00471657" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473328" "00471658" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473329" "00471659" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473330" "00471660" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473331" "00471661" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473332" "00471662" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473333" "00471663" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473334" "00471664" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473335" "00471665" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473336" "00471666" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473337" "00471667" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473338" "00471668" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473339" "00471669" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473340" "00471670" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473341" "00471671" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473342" "00471672" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473343" "00471673" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473344" "00471674" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473345" "00471675" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473346" "00471676" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000473347" "00471677" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000473348" "00471678" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473349" "00471679" "1" "00006" "00006" "2025-12-29 16:31:13" "" "" "SEQ" "DNA" "" "" "0000473350" "00471680" "1" "00006" "00006" "2025-12-29 16:52:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000473351" "00471681" "1" "00006" "00006" "2025-12-29 17:21:16" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000473321" "ANTXR1" "0000473325" "ANTXR1" "0000473329" "ANTXR1" "0000473330" "ANTXR1" "0000473331" "ANTXR1" "0000473332" "ANTXR1" "0000473333" "ANTXR1" "0000473334" "ANTXR1" "0000473335" "ANTXR1" "0000473336" "ANTXR1" "0000473337" "ANTXR1" "0000473338" "ANTXR1" "0000473339" "ANTXR1" "0000473340" "ANTXR1" "0000473342" "ANTXR1" "0000473343" "ANTXR1" "0000473348" "ANTXR1" "0000473349" "ANTXR1" "0000473350" "ANTXR1" ## 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 = 75 "{{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}}" "0000257887" "0" "10" "2" "69409029" "69409029" "subst" "0.479688" "02330" "ANTXR1_000005" "g.69409029C>A" "" "" "" "ANTXR1(NM_032208.3):c.1185+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69181897C>A" "" "benign" "" "0000257888" "0" "30" "2" "69472475" "69472475" "subst" "0.00105979" "02330" "ANTXR1_000006" "g.69472475C>T" "" "" "" "ANTXR1(NM_032208.3):c.1553C>T (p.A518V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69245343C>T" "" "likely benign" "" "0000257889" "0" "10" "2" "69472476" "69472476" "subst" "0.029513" "02330" "ANTXR1_000007" "g.69472476G>A" "" "" "" "ANTXR1(NM_032208.3):c.1554G>A (p.A518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69245344G>A" "" "benign" "" "0000257890" "0" "10" "2" "69240651" "69240651" "subst" "0.0247353" "02330" "ANTXR1_000001" "g.69240651G>A" "" "" "" "ANTXR1(NM_032208.3):c.20G>A (p.R7K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69013519G>A" "" "benign" "" "0000257891" "0" "10" "2" "69300191" "69300191" "subst" "0.0110911" "02330" "ANTXR1_000002" "g.69300191T>C" "" "" "" "ANTXR1(NM_032208.3):c.450T>C (p.D150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69073059T>C" "" "benign" "" "0000257892" "0" "10" "2" "69300243" "69300243" "subst" "0.111643" "02330" "ANTXR1_000003" "g.69300243G>A" "" "" "" "ANTXR1(NM_032208.3):c.492+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69073111G>A" "" "benign" "" "0000262550" "0" "30" "2" "69379327" "69379327" "subst" "0.000182746" "01943" "ANTXR1_000004" "g.69379327C>T" "" "" "" "ANTXR1(NM_032208.2):c.978C>T (p.A326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69152195C>T" "" "likely benign" "" "0000516592" "0" "30" "2" "69329990" "69329990" "subst" "2.437E-5" "01943" "ANTXR1_000008" "g.69329990C>T" "" "" "" "ANTXR1(NM_032208.2):c.720C>T (p.V240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69102858C>T" "" "likely benign" "" "0000516594" "0" "50" "2" "69397405" "69397405" "subst" "8.12374E-6" "01943" "ANTXR1_000010" "g.69397405C>T" "" "" "" "ANTXR1(NM_032208.2):c.1073C>T (p.P358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69170273C>T" "" "VUS" "" "0000516595" "0" "50" "2" "69409629" "69409629" "subst" "5.6862E-5" "01804" "ANTXR1_000011" "g.69409629G>A" "" "" "" "ANTXR1(NM_032208.2):c.1190G>A (p.(Arg397His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69182497G>A" "" "VUS" "" "0000516596" "0" "30" "2" "69409663" "69409663" "subst" "0.000337037" "01943" "ANTXR1_000012" "g.69409663T>G" "" "" "" "ANTXR1(NM_032208.2):c.1224T>G (p.A408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69182531T>G" "" "likely benign" "" "0000516597" "0" "50" "2" "69409744" "69409746" "del" "0" "02325" "ANTXR1_000013" "g.69409744_69409746del" "" "" "" "ANTXR1(NM_032208.3):c.1305_1307del (p.(Asn436del)), ANTXR1(NM_032208.3):c.1305_1307delCAA (p.N436del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69182612_69182614del" "" "VUS" "" "0000516598" "0" "30" "2" "69420556" "69420556" "subst" "0.000199041" "01943" "ANTXR1_000014" "g.69420556C>T" "" "" "" "ANTXR1(NM_032208.2):c.1434+9C>T, ANTXR1(NM_032208.3):c.1434+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69193424C>T" "" "likely benign" "" "0000608068" "0" "30" "2" "69350195" "69350195" "subst" "8.12288E-5" "02330" "ANTXR1_000015" "g.69350195G>A" "" "" "" "ANTXR1(NM_032208.3):c.849G>A (p.A283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69123063G>A" "" "likely benign" "" "0000621100" "0" "30" "2" "69379324" "69379324" "subst" "3.65515E-5" "01943" "ANTXR1_000016" "g.69379324C>T" "" "" "" "ANTXR1(NM_032208.2):c.975C>T (p.I325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69152192C>T" "" "likely benign" "" "0000654710" "0" "50" "2" "69379325" "69379325" "subst" "8.12275E-6" "02325" "ANTXR1_000017" "g.69379325G>A" "" "" "" "ANTXR1(NM_032208.3):c.976G>A (p.A326T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69152193G>A" "" "VUS" "" "0000654711" "0" "30" "2" "69472439" "69472439" "subst" "0.000538811" "02325" "ANTXR1_000018" "g.69472439C>T" "" "" "" "ANTXR1(NM_032208.3):c.1517C>T (p.P506L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69245307C>T" "" "likely benign" "" "0000676698" "0" "30" "2" "69408959" "69408959" "subst" "5.27902E-5" "01943" "ANTXR1_000019" "g.69408959G>A" "" "" "" "ANTXR1(NM_032208.2):c.1131G>A (p.T377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676699" "0" "30" "2" "69420481" "69420481" "subst" "8.1215E-6" "01943" "ANTXR1_000020" "g.69420481C>T" "" "" "" "ANTXR1(NM_032208.2):c.1368C>T (p.A456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688835" "0" "30" "2" "69240649" "69240649" "subst" "0.000972665" "01943" "ANTXR1_000021" "g.69240649G>A" "" "" "" "ANTXR1(NM_032208.2):c.18G>A (p.R6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718927" "0" "30" "2" "69302797" "69302797" "subst" "6.09439E-5" "01943" "ANTXR1_000022" "g.69302797T>C" "" "" "" "ANTXR1(NM_032208.2):c.561+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718928" "0" "30" "2" "69409684" "69409684" "subst" "0.000377637" "01943" "ANTXR1_000023" "g.69409684T>C" "" "" "" "ANTXR1(NM_032208.2):c.1245T>C (p.N415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800765" "0" "50" "2" "69304601" "69304601" "subst" "0" "01943" "ANTXR1_000024" "g.69304601T>C" "" "" "" "ANTXR1(NM_032208.2):c.623T>C (p.L208P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911771" "0" "50" "2" "69379380" "69379380" "subst" "4.06144E-5" "02325" "ANTXR1_000009" "g.69379380C>G" "" "" "" "ANTXR1(NM_032208.3):c.1031C>G (p.P344R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947957" "0" "50" "2" "69408927" "69408927" "subst" "9.33965E-5" "02325" "ANTXR1_000026" "g.69408927G>T" "" "" "" "ANTXR1(NM_032208.3):c.1099G>T (p.D367Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975395" "0" "50" "2" "69300171" "69300171" "subst" "2.4373E-5" "01804" "ANTXR1_000027" "g.69300171G>A" "" "" "" "ANTXR1(NM_032208.3):c.430G>A (p.(Val144Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975396" "0" "50" "2" "69409751" "69409751" "subst" "0.000385755" "01804" "ANTXR1_000028" "g.69409751C>T" "" "" "" "ANTXR1(NM_032208.3):c.1312C>T (p.(Arg438Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992986" "0" "50" "2" "69240665" "69240665" "subst" "2.10575E-5" "01804" "ANTXR1_000029" "g.69240665G>A" "" "" "" "ANTXR1(NM_032208.2):c.34G>A (p.(Gly12Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992987" "0" "50" "2" "69271941" "69271941" "subst" "1.22032E-5" "01804" "ANTXR1_000030" "g.69271941G>A" "" "" "" "ANTXR1(NM_032208.2):c.292G>A (p.(Asp98Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992988" "0" "30" "2" "69297855" "69297855" "subst" "0" "01804" "ANTXR1_000031" "g.69297855G>C" "" "" "" "ANTXR1(NM_032208.2):c.373G>C (p.(Glu125Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992989" "0" "50" "2" "69330024" "69330024" "subst" "4.06141E-6" "01804" "ANTXR1_000032" "g.69330024G>A" "" "" "" "ANTXR1(NM_032208.2):c.754G>A (p.(Val252Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992990" "0" "30" "2" "69351725" "69351725" "subst" "0.00018681" "01804" "ANTXR1_000033" "g.69351725G>A" "" "" "" "ANTXR1(NM_032208.2):c.901G>A (p.(Asp301Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992991" "0" "50" "2" "69420546" "69420546" "subst" "2.84294E-5" "01804" "ANTXR1_000034" "g.69420546C>T" "" "" "" "ANTXR1(NM_032208.2):c.1433C>T (p.(Thr478Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992992" "0" "50" "2" "69472456" "69472456" "del" "0" "01804" "ANTXR1_000035" "g.69472456del" "" "" "" "ANTXR1(NM_032208.2):c.1534delT (p.(Tyr512fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013780" "0" "90" "2" "69271911" "69271911" "subst" "0" "02325" "ANTXR1_000036" "g.69271911C>T" "" "" "" "ANTXR1(NM_032208.3):c.262C>T (p.R88*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033439" "0" "70" "2" "69298884" "69298884" "del" "0" "01804" "ANTXR1_000037" "g.69298884del" "" "" "" "ANTXR1(NM_032208.3):c.379-2del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033441" "0" "30" "2" "69420556" "69420556" "subst" "0.000199041" "01804" "ANTXR1_000014" "g.69420556C>T" "" "" "" "ANTXR1(NM_032208.2):c.1434+9C>T, ANTXR1(NM_032208.3):c.1434+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033442" "0" "70" "2" "69472410" "69472410" "dup" "0" "01804" "ANTXR1_000038" "g.69472410dup" "" "" "" "ANTXR1(NM_032208.3):c.1488dup (p.(Leu497Thrfs*86))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001050680" "0" "50" "2" "69409744" "69409746" "del" "0" "01804" "ANTXR1_000013" "g.69409744_69409746del" "" "" "" "ANTXR1(NM_032208.3):c.1305_1307del (p.(Asn436del)), ANTXR1(NM_032208.3):c.1305_1307delCAA (p.N436del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062168" "3" "90" "2" "69302734" "69302734" "subst" "0" "00006" "ANTXR1_000051" "g.69302734C>T" "" "{PMID:Stranecky 2013:23602711}" "" "" "" "Germline" "" "" "0" "" "" "g.69075602C>T" "" "pathogenic (recessive)" "" "0001062169" "3" "90" "2" "69271911" "69271911" "subst" "0" "00006" "ANTXR1_000036" "g.69271911C>T" "" "{PMID:Stranecky 2013:23602711}" "" "" "" "Germline" "" "" "0" "" "" "g.69044779C>T" "" "pathogenic (recessive)" "" "0001062170" "3" "90" "2" "69271911" "69271911" "subst" "0" "00006" "ANTXR1_000036" "g.69271911C>T" "" "{PMID:Stranecky 2013:23602711}" "" "" "" "Germline" "" "" "0" "" "" "g.69044779C>T" "" "pathogenic (recessive)" "" "0001062171" "3" "90" "2" "69472345" "69472345" "subst" "0" "00006" "ANTXR1_000057" "g.69472345A>G" "" "{PMID:Stranecky 2013:23602711}" "" "" "" "Germline" "" "" "0" "" "" "g.69245213A>G" "" "pathogenic (recessive)" "" "0001062172" "3" "90" "2" "69409660" "69409660" "dup" "0" "00006" "ANTXR1_000056" "g.69409660dup" "" "{PMID:Bozkurt 2013:23494824}, {PMID:Bayram 2014:25045128}" "" "1220_1221insT" "" "Germline" "" "" "0" "" "" "g.69182528dup" "" "pathogenic (recessive)" "" "0001062173" "3" "90" "2" "69298918" "69298918" "subst" "0" "00006" "ANTXR1_000050" "g.69298918A>G" "" "{PMID:Bozkurt 2013:23494824}, {PMID:Bayram 2014:25045128}" "" "" "" "Germline" "" "" "0" "" "" "g.69071786A>G" "" "pathogenic (recessive)" "" "0001062174" "3" "90" "2" "69298918" "69298918" "subst" "0" "00006" "ANTXR1_000050" "g.69298918A>G" "" "{PMID:Bozkurt 2013:23494824}, {PMID:Bayram 2014:25045128}" "" "" "" "Germline" "" "" "0" "" "" "g.69071786A>G" "" "pathogenic (recessive)" "" "0001062175" "3" "90" "2" "69298918" "69298918" "subst" "0" "00006" "ANTXR1_000050" "g.69298918A>G" "" "{PMID:Bozkurt 2013:23494824}, {PMID:Bayram 2014:25045128}" "" "" "" "Germline" "" "" "0" "" "" "g.69071786A>G" "" "pathogenic (recessive)" "" "0001062176" "3" "90" "2" "69408978" "69408978" "subst" "0" "00006" "ANTXR1_000055" "g.69408978G>A" "" "{PMID:Ilker 1999:10197743}, {PMID:Bayram 2014:25045128}" "" "" "" "Germline" "" "" "0" "" "" "g.69181846G>A" "" "pathogenic (recessive)" "" "0001062177" "3" "90" "2" "69408978" "69408978" "subst" "0" "00006" "ANTXR1_000055" "g.69408978G>A" "" "{PMID:Ilker 1999:10197743}, {PMID:Bayram 2014:25045128}" "" "" "" "Germline" "" "" "0" "" "" "g.69181846G>A" "" "pathogenic (recessive)" "" "0001062178" "3" "90" "2" "69408978" "69408978" "subst" "0" "00006" "ANTXR1_000055" "g.69408978G>A" "" "{PMID:Ilker 1999:10197743}" "" "" "" "Germline" "" "" "0" "" "" "g.69181846G>A" "" "pathogenic (recessive)" "" "0001062179" "3" "90" "2" "69297863" "69297863" "subst" "0" "00006" "ANTXR1_000048" "g.69297863A>G" "" "{PMID:Benetti-Pinto 2016:27426988}" "" "" "" "Germline" "" "" "0" "" "" "g.69070731A>G" "" "pathogenic (recessive)" "" "0001062180" "3" "90" "2" "69298917" "69298917" "subst" "0" "00006" "ANTXR1_000049" "g.69298917A>T" "" "{PMID:Salas-Alanís 2016:27587992}" "" "" "" "Germline" "" "" "0" "" "" "g.69071785A>T" "" "pathogenic (recessive)" "" "0001062181" "3" "90" "2" "69298917" "69298917" "subst" "0" "00006" "ANTXR1_000049" "g.69298917A>T" "" "{PMID:Salas-Alanís 2016:27587992}" "" "" "" "Germline" "" "" "0" "" "" "g.69071785A>T" "" "pathogenic (recessive)" "" "0001062182" "3" "90" "2" "69271914" "69271914" "subst" "0" "00006" "ANTXR1_000046" "g.69271914G>A" "" "{PMID:Chattopadhyay 2017:28870703}" "" "" "" "Germline" "" "" "0" "" "" "g.69044782G>A" "" "pathogenic (recessive)" "" "0001062183" "3" "90" "2" "69240720" "69240720" "dup" "0" "00006" "ANTXR1_000041" "g.69240720dup" "" "{PMID:Abdel-Hamid 2019:30575274}" "" "89dupG" "" "Germline" "" "" "0" "" "" "g.69013588dup" "" "pathogenic (recessive)" "" "0001062184" "3" "90" "2" "69240643" "69240661" "dup" "0" "00006" "ANTXR1_000040" "g.69240643_69240661dup" "" "{PMID:Abdel-Hamid 2019:30575274}, {PMID:El-Moataz Bellah Ahmed 2024:39286584}" "" "12_30dupGGAGCGGAGAGCCCTCGGC" "" "Germline" "" "" "0" "" "" "g.69013511_69013529dup" "" "pathogenic (recessive)" "" "0001062185" "3" "90" "2" "69240643" "69240661" "dup" "0" "00006" "ANTXR1_000040" "g.69240643_69240661dup" "" "{PMID:Abdel-Hamid 2019:30575274}" "" "12_30dupGGAGCGGAGAGCCCTCGGC" "" "Germline" "" "" "0" "" "" "g.69013511_69013529dup" "" "pathogenic (recessive)" "" "0001062186" "3" "90" "2" "69240785" "69240785" "subst" "0" "00006" "ANTXR1_000044" "g.69240785T>C" "" "{PMID:Abdel-Hamid 2019:30575274}" "" "" "" "Germline" "" "" "0" "" "" "g.69013653T>C" "" "pathogenic (recessive)" "" "0001062187" "3" "90" "2" "69240785" "69240785" "subst" "0" "00006" "ANTXR1_000044" "g.69240785T>C" "" "{PMID:Abdel-Hamid 2019:30575274}" "" "" "" "Germline" "" "" "0" "" "" "g.69013653T>C" "" "pathogenic (recessive)" "" "0001062188" "3" "90" "2" "69271873" "69271946" "del" "0" "00006" "ANTXR1_000045" "g.(69267248_69271873)_(69271946_69297778)del" "" "{PMID:Abdel-Hamid 2019:30575274}" "" "del ex3, 225_296del" "" "Germline" "" "" "0" "" "" "g.(69040116_69044741)_(69044814_69070646)del" "" "pathogenic (recessive)" "" "0001062189" "3" "90" "2" "69240784" "69240784" "subst" "0" "00006" "ANTXR1_000043" "g.69240784G>A" "" "{PMID:Abdel-Hamid 2019:30575274}" "" "" "" "Germline" "" "" "0" "" "" "g.69013652G>A" "" "pathogenic (recessive)" "" "0001062190" "3" "90" "2" "69409751" "69409751" "subst" "0.000385755" "00006" "ANTXR1_000028" "g.69409751C>T" "" "{PMID:Dinckan 2018:29436111}" "" "" "" "Germline" "" "" "0" "" "" "g.69182619C>T" "" "pathogenic (recessive)" "" "0001062191" "3" "90" "2" "69351773" "69351773" "subst" "0" "00006" "ANTXR1_000054" "g.69351773T>C" "" "{PMID:Yildiz 2022:36094357}" "" "" "" "Germline" "" "" "0" "" "" "g.69124641T>C" "" "pathogenic (recessive)" "" "0001062192" "3" "90" "2" "69351773" "69351773" "subst" "0" "00006" "ANTXR1_000054" "g.69351773T>C" "" "{PMID:Yildiz 2022:36094357}" "" "" "" "Germline" "" "" "0" "" "" "g.69124641T>C" "" "pathogenic (recessive)" "" "0001062193" "3" "90" "2" "69240782" "69240785" "del" "0" "00006" "ANTXR1_000042" "g.69240782_69240785delAAGT" "" "{PMID:Damagatla 2024:38691016}" "" "151_152+2delAAGT" "" "Germline" "" "" "0" "" "" "g.69013650_69013653delAAGT" "" "pathogenic (recessive)" "" "0001062194" "3" "90" "2" "69240782" "69240785" "del" "0" "00006" "ANTXR1_000042" "g.69240782_69240785delAAGT" "" "{PMID:Damagatla 2024:38691016}" "" "151_152+2delAAGT" "" "Germline" "" "" "0" "" "" "g.69013650_69013653delAAGT" "" "pathogenic (recessive)" "" "0001062195" "3" "90" "2" "69304546" "69304546" "del" "0" "00006" "ANTXR1_000052" "g.69304546del" "" "{PMID:Balakrishnan 2024:38423276}" "" "568delC" "" "Germline" "" "" "0" "" "" "g.69077414del" "" "pathogenic (recessive)" "" "0001062196" "3" "90" "2" "69297778" "69300234" "del" "0" "00006" "ANTXR1_000047" "g.(69271946_69297778)_(69300234_69302721)del" "" "{PMID:Modafferi 2025:40962491}" "" "del ex4-6, (298+1_299–1)_(492+1_493–1)del" "" "Germline" "" "" "0" "" "" "g.(69044814_69070646)_(69073102_69075589)del" "" "pathogenic (recessive)" "" "0001062197" "3" "90" "2" "69318012" "69318012" "subst" "0" "00006" "ANTXR1_000053" "g.69318012G>A" "" "{PMID:El-Moataz Bellah Ahmed 2024:39286584}" "" "" "" "Germline" "" "" "0" "" "" "g.69090880G>A" "" "pathogenic (recessive)" "" "0001062198" "3" "90" "2" "69318012" "69318012" "subst" "0" "00006" "ANTXR1_000053" "g.69318012G>A" "" "{PMID:El-Moataz Bellah Ahmed 2024:39286584}" "" "" "" "Germline" "" "" "0" "" "" "g.69090880G>A" "" "pathogenic (recessive)" "" "0001062202" "1" "70" "2" "69379325" "69379325" "subst" "8.12275E-6" "00006" "ANTXR1_000017" "g.69379325G>A" "" "{PMID:Jinnin 2008:18931684}" "" "" "in vitro functional analysis shows increased interactions among VEGFR2, TEM8 and beta1 integrin proteins and in inhibition of integrin activity" "Germline/De novo (untested)" "" "" "0" "" "" "g.69152193G>A" "" "VUS" "" "0001062203" "21" "90" "2" "69472355" "69472355" "subst" "0" "00006" "ANTXR1_000039" "g.69472355A>T" "" "{PMID:Smigiel 2019:31425299}" "" "" "" "Germline" "" "" "0" "" "" "g.69245223A>T" "" "pathogenic (recessive)" "" "0001062204" "21" "90" "2" "69472355" "69472355" "subst" "0" "00006" "ANTXR1_000039" "g.69472355A>T" "" "{PMID:Smigiel 2019:31425299}" "" "" "uniparental disomy of maternal chromosome 2" "Uniparental disomy, maternal allele" "" "" "0" "" "" "g.69245223A>T" "" "pathogenic (recessive)" "" "0001063446" "0" "50" "2" "69330018" "69330018" "subst" "0" "02325" "ANTXR1_000058" "g.69330018C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063447" "0" "50" "2" "69330051" "69330051" "subst" "8.12249E-6" "02325" "ANTXR1_000059" "g.69330051A>G" "" "" "" "" "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 ANTXR1 ## Count = 75 "{{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}}" "0000257887" "00002596" "10" "1185" "16" "1185" "16" "c.1185+16C>A" "r.(=)" "p.(=)" "" "0000257888" "00002596" "30" "1553" "0" "1553" "0" "c.1553C>T" "r.(?)" "p.(Ala518Val)" "" "0000257889" "00002596" "10" "1554" "0" "1554" "0" "c.1554G>A" "r.(?)" "p.(Ala518=)" "" "0000257890" "00002596" "10" "20" "0" "20" "0" "c.20G>A" "r.(?)" "p.(Arg7Lys)" "" "0000257891" "00002596" "10" "450" "0" "450" "0" "c.450T>C" "r.(?)" "p.(Asp150=)" "" "0000257892" "00002596" "10" "492" "10" "492" "10" "c.492+10G>A" "r.(=)" "p.(=)" "" "0000262550" "00002596" "30" "978" "0" "978" "0" "c.978C>T" "r.(?)" "p.(Ala326=)" "" "0000516592" "00002596" "30" "720" "0" "720" "0" "c.720C>T" "r.(?)" "p.(Val240=)" "" "0000516594" "00002596" "50" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Pro358Leu)" "" "0000516595" "00002596" "50" "1190" "0" "1190" "0" "c.1190G>A" "r.(?)" "p.(Arg397His)" "" "0000516596" "00002596" "30" "1224" "0" "1224" "0" "c.1224T>G" "r.(?)" "p.(Ala408=)" "" "0000516597" "00002596" "50" "1305" "0" "1307" "0" "c.1305_1307del" "r.(?)" "p.(Asn436del)" "" "0000516598" "00002596" "30" "1434" "9" "1434" "9" "c.1434+9C>T" "r.(=)" "p.(=)" "" "0000608068" "00002596" "30" "849" "0" "849" "0" "c.849G>A" "r.(?)" "p.(Ala283=)" "" "0000621100" "00002596" "30" "975" "0" "975" "0" "c.975C>T" "r.(?)" "p.(Ile325=)" "" "0000654710" "00002596" "50" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Ala326Thr)" "" "0000654711" "00002596" "30" "1517" "0" "1517" "0" "c.1517C>T" "r.(?)" "p.(Pro506Leu)" "" "0000676698" "00002596" "30" "1131" "0" "1131" "0" "c.1131G>A" "r.(?)" "p.(Thr377=)" "" "0000676699" "00002596" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Ala456=)" "" "0000688835" "00002596" "30" "18" "0" "18" "0" "c.18G>A" "r.(?)" "p.(Arg6=)" "" "0000718927" "00002596" "30" "561" "7" "561" "7" "c.561+7T>C" "r.(=)" "p.(=)" "" "0000718928" "00002596" "30" "1245" "0" "1245" "0" "c.1245T>C" "r.(?)" "p.(Asn415=)" "" "0000800765" "00002596" "50" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Leu208Pro)" "" "0000911771" "00002596" "50" "1031" "0" "1031" "0" "c.1031C>G" "r.(?)" "p.(Pro344Arg)" "" "0000947957" "00002596" "50" "1099" "0" "1099" "0" "c.1099G>T" "r.(?)" "p.(Asp367Tyr)" "" "0000975395" "00002596" "50" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Ile)" "" "0000975396" "00002596" "50" "1312" "0" "1312" "0" "c.1312C>T" "r.(?)" "p.(Arg438Cys)" "" "0000992986" "00002596" "50" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "0000992987" "00002596" "50" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Asp98Asn)" "" "0000992988" "00002596" "30" "373" "0" "373" "0" "c.373G>C" "r.(?)" "p.(Glu125Gln)" "" "0000992989" "00002596" "50" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Val252Met)" "" "0000992990" "00002596" "30" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Asp301Asn)" "" "0000992991" "00002596" "50" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Thr478Met)" "" "0000992992" "00002596" "50" "1534" "0" "1534" "0" "c.1534del" "r.(?)" "p.(Tyr512Thrfs*82)" "" "0001013780" "00002596" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88*)" "" "0001033439" "00002596" "70" "379" "-2" "379" "-2" "c.379-2del" "r.spl?" "p.?" "" "0001033441" "00002596" "30" "1434" "9" "1434" "9" "c.1434+9C>T" "r.(=)" "p.(=)" "" "0001033442" "00002596" "70" "1488" "0" "1488" "0" "c.1488dup" "r.(?)" "p.(Leu497Thrfs*86)" "" "0001050680" "00002596" "50" "1305" "0" "1307" "0" "c.1305_1307del" "r.(?)" "p.(Asn436del)" "" "0001062168" "00002596" "90" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Ter)" "" "0001062169" "00002596" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Ter)" "" "0001062170" "00002596" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Ter)" "" "0001062171" "00002596" "90" "1435" "-12" "1435" "-12" "c.1435-12A>G" "r.(1434_1435ins1435-11_1435-1)" "p.(Gly479PhefsTer119)" "17i" "0001062172" "00002596" "90" "1221" "0" "1221" "0" "c.1221dup" "r.(?)" "p.(Ala408CysfsTer2)" "" "0001062173" "00002596" "90" "411" "0" "411" "0" "c.411A>G" "r.spl" "p.?" "5" "0001062174" "00002596" "90" "411" "0" "411" "0" "c.411A>G" "r.spl" "p.?" "5" "0001062175" "00002596" "90" "411" "0" "411" "0" "c.411A>G" "r.spl" "p.?" "5" "0001062176" "00002596" "90" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Gly384Ser)" "" "0001062177" "00002596" "90" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Gly384Ser)" "" "0001062178" "00002596" "90" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Gly384Ser)" "" "0001062179" "00002596" "90" "378" "3" "378" "3" "c.378+3A>G" "r.spl" "p.?" "4i" "0001062180" "00002596" "90" "410" "0" "410" "0" "c.410A>T" "r.(?)" "p.(Gln137Leu)" "" "0001062181" "00002596" "90" "410" "0" "410" "0" "c.410A>T" "r.(?)" "p.(Gln137Leu)" "" "0001062182" "00002596" "90" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Gly89Arg)" "" "0001062183" "00002596" "90" "89" "0" "89" "0" "c.89dup" "r.(?)" "p.(Arg31ThrfsTer14)" "" "0001062184" "00002596" "90" "12" "0" "30" "0" "c.12_30dup" "r.(?)" "p.(Ile11GlyfsTer40)" "" "0001062185" "00002596" "90" "12" "0" "30" "0" "c.12_30dup" "r.(?)" "p.(Ile11GlyfsTer40)" "" "0001062186" "00002596" "90" "152" "2" "152" "2" "c.152+2T>C" "r.spl" "p.?" "1i" "0001062187" "00002596" "90" "152" "2" "152" "2" "c.152+2T>C" "r.spl" "p.?" "1i" "0001062188" "00002596" "90" "225" "-1" "296" "1" "c.(224+1_225-1)_(296+1_297-1)del" "p.(Ser75_Asp98del)" "p.(Ser75_Asp98del)" "2i_3i" "0001062189" "00002596" "90" "152" "1" "152" "1" "c.152+1G>A" "r.spl" "p.?" "1i" "0001062190" "00002596" "90" "1312" "0" "1312" "0" "c.1312C>T" "r.(?)" "p.(Arg438Cys)" "" "0001062191" "00002596" "90" "949" "0" "949" "0" "c.949T>C" "r.(?)" "p.(Cys317Arg)" "" "0001062192" "00002596" "90" "949" "0" "949" "0" "c.949T>C" "r.(?)" "p.(Cys317Arg)" "" "0001062193" "00002596" "90" "152" "3" "152" "6" "c.152+3_152+6del" "r.spl" "p.?" "1i" "0001062194" "00002596" "90" "152" "3" "152" "6" "c.152+3_152+6del" "r.spl" "p.?" "1i" "0001062195" "00002596" "50" "568" "0" "568" "0" "c.568del" "r.(?)" "p.(Arg190GlyfsTer12)" "" "0001062196" "00002596" "50" "297" "-1" "492" "1" "c.(296+1_297-1)_(492+1_493-1)del" "r.(?)" "p.(Glu100LeufsTer16)" "3i_6i" "0001062197" "00002596" "90" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Glu222Lys)" "" "0001062198" "00002596" "90" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Glu222Lys)" "" "0001062202" "00002596" "70" "976" "0" "976" "0" "c.976G>A" "r.976G>A" "p.Ala326Thr" "13" "0001062203" "00002596" "90" "1435" "-2" "1435" "-2" "c.1435-2A>T" "r.spl" "p.?" "17i" "0001062204" "00002596" "90" "1435" "-2" "1435" "-2" "c.1435-2A>T" "r.spl" "p.?" "17i" "0001063446" "00002596" "50" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Cys)" "" "0001063447" "00002596" "50" "781" "0" "781" "0" "c.781A>G" "r.(?)" "p.(Ile261Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{variantid}}" "0000473319" "0001062168" "0000473320" "0001062169" "0000473321" "0001062170" "0000473322" "0001062171" "0000473323" "0001062172" "0000473324" "0001062173" "0000473325" "0001062174" "0000473326" "0001062175" "0000473327" "0001062176" "0000473328" "0001062177" "0000473329" "0001062178" "0000473330" "0001062179" "0000473331" "0001062180" "0000473332" "0001062181" "0000473333" "0001062182" "0000473334" "0001062183" "0000473335" "0001062184" "0000473336" "0001062185" "0000473337" "0001062186" "0000473338" "0001062187" "0000473339" "0001062188" "0000473340" "0001062189" "0000473341" "0001062190" "0000473342" "0001062191" "0000473343" "0001062192" "0000473344" "0001062193" "0000473345" "0001062194" "0000473346" "0001062195" "0000473347" "0001062196" "0000473348" "0001062197" "0000473349" "0001062198" "0000473350" "0001062202" "0000473351" "0001062203" "0000473351" "0001062204"