### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = APTX) # 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}}" "APTX" "aprataxin" "9" "p13.3" "unknown" "NG_012821.1" "UD_132118481045" "" "http://www.LOVD.nl/APTX" "" "1" "15984" "54840" "606350" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/APTX_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2010-04-29 00:00:00" "00006" "2016-11-25 10:40:51" "00000" "2022-05-09 15:51:19" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00023876" "APTX" "transcript variant 1" "007" "NM_175073.2" "" "NP_778243.1" "" "" "" "-185" "1921" "1029" "33001639" "32972604" "00008" "2013-11-25 17:59:23" "" "" "00025574" "APTX" "transcript variant 6" "005" "NM_001195248.1" "" "NP_001182177.1" "" "" "" "-37" "1963" "1071" "33001639" "32972604" "00006" "2020-11-05 17:57:53" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01672" "EAOH" "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (EAOH)" "AR" "208920" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05519" "AOA" "ataxia-oculomotor apraxia (AOA)" "" "" "" "" "" "00006" "2018-11-17 09:09:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "APTX" "00139" "APTX" "01672" "APTX" "05519" ## Individuals ## Do not remove or alter this header ## ## Count = 74 "{{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}}" "00000006" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00034766" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034767" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00208527" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00208921" "" "" "" "1" "" "00547" "{PMID:Baba 2007:17049295}" "" "" "" "" "" "0" "" "" "" "" "00208922" "" "" "" "1" "" "00547" "{PMID:Tranchant 2003:12629250}" "brother/sister" "" "" "" "" "0" "" "" "" "" "00208923" "" "" "" "1" "" "00547" "{PMID:Le Ber 2003:14506070}" "" "" "" "" "" "0" "" "" "" "" "00208924" "" "" "" "1" "" "00547" "{PMID:Moreira 2001:11586300}" "2-generation family, unaffected parents" "" "" "Portugal" "" "0" "" "" "Portuguese" "" "00208925" "" "" "" "1" "" "00547" "{PMID:Shimazaki 2002:12196655}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00208926" "" "" "" "1" "" "00547" "{PMID:Criscuolo 2004:15596775}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00208927" "" "" "" "1" "" "00547" "{PMID:Moreira 2001:11586300}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00208928" "" "" "" "1" "" "00547" "{PMID:Moreira 2001:11586300}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00208929" "" "" "" "1" "" "00547" "{PMID:Criscuolo 2005:15852392}" "" "" "" "" "" "0" "" "" "" "" "00208930" "" "" "" "1" "" "00547" "{PMID:Fogel 2006:17159128}" "" "" "" "" "" "0" "" "" "" "" "00208931" "" "" "" "1" "" "00547" "{PMID:Moreira 2001:11586300}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00208932" "" "" "" "1" "" "00547" "{PMID:Moreira 2001:11586300}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00208933" "" "" "" "1" "" "00547" "{PMID:Moreira 2001:11586300}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00208934" "" "" "" "1" "" "00547" "{PMID:Ferrarini 2007:17572444}" "" "" "" "" "" "0" "" "" "" "" "00208935" "" "" "" "1" "" "00547" "" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00208936" "" "" "" "1" "" "00547" "{PMID:Baba 2007:17049295}" "" "" "" "" "" "0" "" "" "" "" "00208937" "" "" "" "1" "" "00547" "{PMID:Mosesso 2005:15719174}" "" "" "" "" "" "0" "" "" "" "" "00208938" "" "" "" "1" "" "00547" "{PMID:H\'mida-Ben Brahim 2011:20798953}" "" "" "" "Lebanon" "" "0" "" "" "" "" "00208939" "" "" "" "1" "" "00547" "{PMID:Date 2001:11586299}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00208940" "" "" "" "1" "" "00547" "{PMID:Le Ber 2003:14506070}" "" "" "" "" "" "0" "" "" "" "" "00208941" "" "" "" "1" "" "00547" "{PMID:Le Ber 2003:14506070}" "" "" "" "" "" "0" "" "" "" "" "00208942" "" "" "" "1" "" "00547" "{PMID:Le Ber 2003:14506070}" "" "" "" "" "" "0" "" "" "" "" "00208943" "" "" "" "1" "" "00547" "{PMID:Le Ber 2003:14506070}" "" "" "" "" "" "0" "" "" "" "" "00208944" "" "" "" "1" "" "00547" "{PMID:Moreira 2001:11586300}" "" "" "" "Portugal" "" "0" "" "" "Portuguese" "" "00208945" "" "" "" "1" "" "00547" "{PMID:Moreira 2001:11586300}" "" "" "" "Portugal" "" "0" "" "" "Portuguese" "" "00208946" "" "" "" "1" "" "00547" "{PMID:Moreira 2001:11586300}" "" "" "" "Portugal" "" "0" "" "" "Portuguese" "" "00208947" "" "" "" "1" "" "00547" "{PMID:Moreira 2001:11586300}" "" "" "" "Portugal" "" "0" "" "" "Portuguese" "" "00208948" "" "" "" "1" "" "00547" "{PMID:Moreira 2001:11586300}" "" "" "" "Portugal" "" "0" "" "" "Portuguese" "" "00208949" "" "" "" "1" "" "00547" "{PMID:Date 2001:11586299}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00208950" "" "" "" "1" "" "00547" "{PMID:Crimella 2011:21412945}" "" "" "" "" "" "0" "" "" "" "" "00208951" "" "" "" "1" "" "00547" "{PMID:Castellotti 2011:21465257}" "" "" "" "" "" "0" "" "" "" "" "00208952" "" "" "" "1" "" "00547" "" "" "" "" "" "" "0" "" "" "" "" "00208953" "" "" "" "1" "" "00547" "{PMID:Castellotti 2011:21465257}" "" "" "" "" "" "0" "" "" "" "" "00208954" "" "" "" "1" "" "00547" "{PMID:Castellotti 2011:21465257}" "" "" "" "" "" "0" "" "" "" "" "00208955" "" "" "" "1" "" "01833" "{PMID:Nouri et al 2012:23183622}" "" "" "" "" "" "0" "" "" "" "" "00208956" "" "" "" "5" "" "01833" "{PMID:Amouri 2004:15365154}" "family, 5 affected (2F, 3M), unaffacted parents" "F;M" "" "Tunisia" "" "0" "" "" "" "15365154-Fam1" "00208957" "" "" "" "1" "" "01833" "{PMID:van Minkelen 2015:26285866}" "" "" "" "" "" "0" "" "" "" "26285866-Pat23263" "00208958" "" "" "" "1" "" "01833" "" "" "" "" "" "" "0" "" "" "" "" "00208959" "" "" "" "1" "" "01833" "" "" "" "" "" "" "0" "" "" "" "" "00208960" "" "" "" "1" "" "01833" "" "" "" "" "" "" "0" "" "" "" "" "00208961" "" "" "" "1" "" "01833" "" "" "" "" "" "" "0" "" "" "" "" "00208962" "" "" "" "1" "" "01833" "" "" "" "" "" "" "0" "" "" "" "" "00208963" "" "" "" "1" "" "01833" "van Minkelen et al. In preparation" "" "" "" "" "" "0" "" "" "" "" "00208964" "" "" "" "1" "" "01833" "{PMID:van Minkelen 2015:26285866}" "" "" "" "" "" "0" "" "" "" "26285866-Pat4305" "00208965" "" "" "" "1" "" "01833" "{PMID:Avan Minkelen 2015:26285866}" "" "" "" "" "" "0" "" "" "" "26285866-Pat23006" "00208966" "" "" "" "1" "" "01833" "van Minkelen et al. In preparation" "" "" "" "" "" "0" "" "" "" "" "00208967" "" "" "" "1" "" "01833" "{PMID:van Minkelen 2015:26285866}" "" "" "" "" "" "0" "" "" "" "26285866-Pat27320" "00208968" "" "" "" "1" "" "01833" "" "" "" "" "" "" "0" "" "" "" "" "00208969" "" "" "" "1" "" "01833" "" "" "" "" "" "" "0" "" "" "" "" "00208970" "" "" "" "1" "" "01833" "{PMID:Mosesso 2005:15719174}" "" "" "" "" "" "0" "" "" "" "" "00208971" "" "" "" "1" "" "01833" "{PMID:Avan Minkelen 2015:26285866}" "" "" "" "" "" "0" "" "" "" "26285866-Pat27908" "00208972" "" "" "" "1" "" "01833" "" "" "" "" "" "" "0" "" "" "" "" "00208973" "" "" "" "1" "" "01833" "{PMID:Le Ber 2003:14506070}" "" "" "" "" "" "0" "" "" "" "" "00208974" "" "" "" "1" "" "01833" "{PMID:van Minkelen 2015:26285866}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Morocco" "" "0" "" "" "" "26285866-Pat1" "00208975" "" "" "" "1" "" "01833" "{PMID:Yoon 2009:21686683}, {PMID:van Minkelen 2015:26285866}" "2-generation family, 1affected, unaffected parents" "F" "yes" "Pakistan" "" "0" "" "" "" "26285866-Pat2" "00208976" "" "" "" "1" "" "01833" "{PMID:Avan Minkelen 2015:26285866}" "" "" "" "" "" "0" "" "" "" "26285866-Pat18647" "00208977" "" "" "" "1" "" "01833" "{PMID:van Minkelen 2015:26285866}" "" "" "" "" "" "0" "" "" "" "26285866-Pat53383" "00208978" "" "" "" "1" "" "01833" "{PMID:van Minkelen 2015:26285866}" "" "" "" "" "" "0" "" "" "" "26285866-Pat62385" "00208979" "" "" "" "1" "" "01833" "{PMID:van Minkelen 2015:26285866}" "" "" "" "" "" "0" "" "" "" "26285866-Pat61291" "00208980" "" "" "" "1" "" "00006" "{PMID:Amouri 2004:15365154}" "family, 4 affected (2F, 2M), unaffected parents" "F;M" "" "Tunisia" "" "0" "" "" "" "15365154-Fam2" "00208981" "" "" "" "4" "" "00006" "{PMID:Amouri 2004:15365154}" "family, 4 affected (2F, 2M), unaffected parents" "F;M" "" "Tunisia" "" "0" "" "" "" "15365154-Fam3" "00295504" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00317985" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR36" "00329226" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00374193" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3687" "00374194" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5910" "00374195" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3919" "00374196" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-753" "00397578" "" "" "" "2" "" "00435" "" "family, 2 affected brothers, unaffected heterozygous carrier mother, 3 sisters and brother" "M" "yes" "Egypt" "" "0" "" "" "Egyptian" "FamPat1" "00404124" "" "" "" "3" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 71 "{{individualid}}" "{{diseaseid}}" "00034767" "01672" "00208921" "00198" "00208922" "01672" "00208923" "01672" "00208924" "01672" "00208925" "01672" "00208926" "01672" "00208927" "01672" "00208928" "01672" "00208929" "01672" "00208930" "00198" "00208931" "01672" "00208932" "01672" "00208933" "01672" "00208934" "01672" "00208935" "01672" "00208936" "00198" "00208937" "01672" "00208938" "01672" "00208939" "01672" "00208940" "01672" "00208941" "01672" "00208942" "01672" "00208943" "01672" "00208944" "01672" "00208945" "01672" "00208946" "01672" "00208947" "01672" "00208948" "01672" "00208949" "01672" "00208950" "01672" "00208951" "01672" "00208952" "01672" "00208953" "01672" "00208954" "01672" "00208955" "01672" "00208956" "01672" "00208957" "01672" "00208958" "01672" "00208959" "01672" "00208960" "01672" "00208961" "01672" "00208962" "01672" "00208963" "01672" "00208964" "01672" "00208965" "01672" "00208966" "01672" "00208967" "01672" "00208968" "01672" "00208969" "01672" "00208970" "01672" "00208971" "01672" "00208972" "01672" "00208973" "01672" "00208974" "01672" "00208975" "01672" "00208976" "01672" "00208977" "01672" "00208978" "01672" "00208979" "01672" "00208980" "01672" "00208981" "01672" "00295504" "00198" "00317985" "00139" "00329226" "00198" "00374193" "00198" "00374194" "00198" "00374195" "00198" "00374196" "00198" "00397578" "05519" "00404124" "05519" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01672, 05519 ## Count = 73 "{{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}}" "0000067722" "01672" "00034767" "01164" "Unknown" "" "ataxia with oculomotor apraxia type 1" "" "" "" "" "" "" "" "" "" "" "" "0000157202" "00198" "00208527" "01164" "Unknown" "" "HP:0002073 (Progressive cerebellar ataxia)" "" "" "" "" "" "" "" "" "" "" "" "0000157528" "00198" "00208921" "00547" "Unknown" "" "moderate cerebellar ataxia, dysarthria, dysmetria, postural tremor, mild bradykinesia, ataxic gait, decomposition of movement in upper and right lower extremities, cognitive deficits, oculomotor dysfunction, motor paresis, sensory disturbance and cerebellar atrophy" "" "" "" "" "" "" "" "" "" "multiple system atrophy, cerebellar type" "" "0000157529" "01672" "00208922" "00547" "Familial, autosomal recessive" "" "gait ataxia, mild axial and limb ataxia, dysarthria, areflexia, loss of pallesthesia, cerebellar atrophy, decreased motor conduction in lower limbs, right extensor plantar response, mild upper limb dystonia, moderate ptosis of the left lid, pes cavus," "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157530" "01672" "00208923" "00547" "Familial, autosomal recessive" "" "cerebellar ataxia, oculomotor apraxia, severe choria, dystonia face + hand, dysexecurive syndrome, abolished tendon reflexes, severe motor deficit, severe distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, pes cavus, scoliosis" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157531" "01672" "00208924" "00547" "Unknown" "" "typical AOA1 phenotype + marked dystonia and masklike faces" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157532" "01672" "00208925" "00547" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157533" "01672" "00208926" "00547" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157534" "01672" "00208927" "00547" "Familial, autosomal recessive" "" "ataxia, ophthalmoparesis, nystagmus, mild mental retardation" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157535" "01672" "00208928" "00547" "Familial, autosomal recessive" "" "cerebellar ataxia, ocular apraxia, ...(not complete clinical information)." "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157536" "01672" "00208929" "00547" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157537" "00198" "00208930" "00547" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Ataxia-ocular apraxia type 2" "" "0000157538" "01672" "00208931" "00547" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157539" "01672" "00208932" "00547" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157540" "01672" "00208933" "00547" "Familial, autosomal recessive" "" "gait ataxia, ocular apaxia, hyporeflexia, dysarthria, cerebellar atrophy, severe mental retardation (before ataxia onset)" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157541" "01672" "00208934" "00547" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157542" "01672" "00208935" "00547" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157543" "00198" "00208936" "00547" "Unknown" "" "cerebellar ataxia, dysarthria, dysmetria, postural tremor, bradykinesia, ataxic gait, decomposition of movement in upper and lower extremities" "" "" "" "" "" "" "" "" "" "multiple system atrophy, cerebellar type" "" "0000157544" "01672" "00208937" "00547" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157545" "01672" "00208938" "00547" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157546" "01672" "00208939" "00547" "Familial, autosomal recessive" "" "progressive ataxia, absence of tendon reflexes, distal loss of sense of position and vibration, pyramidal weakness of the legs, hypoalbuminemia" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157547" "01672" "00208940" "00547" "Familial, autosomal recessive" "" "cerebellar ataxia, dysexecurive syndrome, abolished tendon reflexes, severe motor deficit, moderate distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, scoliosis" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157548" "01672" "00208941" "00547" "Familial, autosomal recessive" "" "cerebellar ataxia, choria, dystonia hand, dysexecurive syndrome, abolished tendon reflexes, severe motor deficit, moderate distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157549" "01672" "00208942" "00547" "Familial, autosomal recessive" "" "cerebellar ataxia, oculomotor apraxia, choria, dystonia face + hand, mental retardation, abolished tendon reflexes, severe motor deficit, severe distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, limb oedema" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157550" "01672" "00208943" "00547" "Familial, autosomal recessive" "" "cerebellar ataxia, oculomotor apraxia, choria, dystonia face + hand, mental retardation, abolished tendon reflexes, severe motor deficit, severe distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, limb oedemam pes cavus, scoliosis" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157551" "01672" "00208944" "00547" "Familial, autosomal recessive" "" "cerebellar ataxia, ocular apraxia, ...(not complete clinical information)." "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157552" "01672" "00208945" "00547" "Familial, autosomal recessive" "" "cerebellar ataxia, ocular apraxia, ...(not complete clinical information)." "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157553" "01672" "00208946" "00547" "Familial, autosomal recessive" "" "cerebellar ataxia, ocular apraxia, ...(not complete clinical information)." "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157554" "01672" "00208947" "00547" "Familial, autosomal recessive" "" "cerebellar ataxia, ocular apraxia, ...(not complete clinical information)." "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157555" "01672" "00208948" "00547" "Familial, autosomal recessive" "" "cerebellar ataxia, ocular apraxia, ...(not complete clinical information)." "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157556" "01672" "00208949" "00547" "Familial, autosomal recessive" "" "progressive ataxia, absence of tendon reflexes, distal loss of sense of position and vibration, pyramidal weakness of the legs, hypoalbuminemia" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157557" "01672" "00208950" "00547" "Familial, autosomal recessive" "" "ataxic gait, dysmetria, diffuse distal leg and hand hypotrophy, absence of deep tendon reflexes (DTR), pes , cavus, with intact strength and sensation, dysarthria, difficulties in visual pursuit with ocular , esotropia, flaccid tetraplegia, severe hypotrophy, hypotonia and areflexia. severe axonal neuropathy more severe at the lower limbs. Severe cerebellar atrophy." "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157558" "01672" "00208951" "00547" "Familial, autosomal recessive" "" "Severe gait limb ataxia. Moderate dysarthria, defects of saccadic initiation and choreoathetosis. Mild distal weakness lower and upper limbs, muscular wasting, cognitive impairment and decreased vibration sense lower limbs. Nystagmus, Babinksi sign and deep tendon reflexes lower limbs absent." "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157559" "01672" "00208952" "00547" "Familial, autosomal recessive" "" "Moderate gait limb ataxia. Mild dysarthria. Metal retardation and deep tendon reflexes lower limbs absent." "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157560" "01672" "00208953" "00547" "Familial, autosomal recessive" "" "Severe gait limb ataxia, dysarthria, defects of saccadic initiation and distal weakness lower limbs. Moderate muscular wasting. Mildchoreoathetosis, Mild distal weakness upper limbs, cognitive impairment and decreased vibration sense lower limbs. Nystagmus, deep tendon reflexes lower limbs absent." "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157561" "01672" "00208954" "00547" "Familial, autosomal recessive" "" "Moderate gait limb ataxia, dysarthria, defects of saccadic initiation and distal weakness lower limbs and decreased vibration sense lower limbs. Mild muscular wasting. Nystagmus and deep tendon reflexes lower limbs absent." "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157562" "01672" "00208955" "01833" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157563" "01672" "00208956" "01833" "Familial, autosomal recessive" "" "ataxic gait, cerebellar ataxia, oculomotor apraxia, distal sensory disturbance, cerebellar atrophy, areflexia, distal muscle wasting, decreased motor nerve action potential, motor nerve conduction velocities and sensory action potentials" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157564" "01672" "00208957" "01833" "Unknown" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type ½" "" "0000157565" "01672" "00208958" "01833" "Unknown" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157566" "01672" "00208959" "01833" "Unknown" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157567" "01672" "00208960" "01833" "Unknown" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157568" "01672" "00208961" "01833" "Unknown" "" "oculomotor apraxia, nystagmus (no further details given by physician)" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157569" "01672" "00208962" "01833" "Unknown" "" "motoric and axonal sensible polyneuropathy, very mild dysarthria, very mild cerebellar ataxia" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157570" "01672" "00208963" "01833" "Unknown" "" "cerebellar ataxia (not further details given by physician)" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157571" "01672" "00208964" "01833" "Unknown" "" "psychomotor retardation, epilepsy, clinically AOA1 (no details provided by requesting physician)." "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157572" "01672" "00208965" "01833" "Unknown" "" "cerebellar ataxia, oculomotor apraxia (no further details given by physician)" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157573" "01672" "00208966" "01833" "Unknown" "" "cerebellar ataxia (no further details given by physician)" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157574" "01672" "00208967" "01833" "Familial, autosomal recessive" "" "no details given by physician" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157575" "01672" "00208968" "01833" "Unknown" "" "mild AOA1 phenotype (no details provided by requesting physician)" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157576" "01672" "00208969" "01833" "Unknown" "" "unknown ataxia (no further details given by physician)," "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157577" "01672" "00208970" "01833" "Familial, autosomal recessive" "" "no details provided by requesting physician" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157578" "01672" "00208971" "01833" "Unknown" "" "cerebellar ataxia, polyneuropathy, dysarthria, nystagmus, gait ataxia, mild cerebellar atrophy" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157579" "01672" "00208972" "01833" "Familial, autosomal recessive" "" "cerebellar ataxia, cerebellar dysarthria, oculomotor apraxia, legs parese iliopsoas 4+/4+, areflexia, Q10 deficiency, polyneuropathy," "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157580" "01672" "00208973" "01833" "Familial, autosomal recessive" "" "no details provided by requesting physician" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157581" "01672" "00208974" "01833" "Familial, autosomal recessive" "" "cerebellar ataxia, cerebellar atrophy, oculomotor apraxia, ataxic gait, dysmetria, distal limb dystonia, sensitive axonal polyneuropathy, bilateral spontaneous Babinski and rotulian and achillean hyporeflexia" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157582" "01672" "00208975" "01833" "Familial, autosomal recessive" "" "oculomotor apraxia, severe dysarthria, dysmetria, bradykinesia, cerebellar atrophy, reduced deep tendon reflexes, widespread cognitive impairment" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157583" "01672" "00208976" "01833" "Familial, autosomal recessive" "" "mild scoliosis, nystagmus, mild tremor, gait ataxia, areflexia" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157584" "01672" "00208977" "01833" "Unknown" "" "" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157585" "01672" "00208978" "01833" "Unknown" "" "no details provided by requesting physician" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157586" "01672" "00208979" "01833" "Unknown" "" "no details provided by requesting physician" "" "" "" "" "" "" "" "" "EAOH" "Ataxia-ocular apraxia type 1" "" "0000157587" "01672" "00208980" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "EAOH" "early onset cerebellar ataxia associated with oculomotor apraxia." "" "0000157588" "01672" "00208981" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "EAOH" "early onset cerebellar ataxia associated with oculomotor apraxia" "" "0000223075" "00198" "00295504" "01164" "Unknown" "" "Cerebellar atrophy (HP:0001272); Gait ataxia (HP:0002066)" "" "" "" "" "" "" "" "" "" "" "" "0000241769" "00139" "00317985" "00006" "Familial, autosomal recessive" "" "V:14: Moderate hypotonia, autism, speech delay, small and squint eyes. V:13: mild ID, dwarf, elongated hands, flat bridge of nose. VI:1: ID, epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000247418" "00198" "00329226" "01807" "Unknown" "" "Ataxia (HP:0001251); Cognitive impairment (HP:0100543); Sensory ataxia (HP:0010871)" "" "" "" "" "" "" "" "" "" "" "" "0000269403" "00198" "00374193" "00006" "Familial, autosomal recessive" "" "Delayed milestones, gait difficulty and swaying while walking by 6 years of age, foot deformity and squint by 14 years of age and speech difficulty by 16 years of age" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000269404" "00198" "00374194" "00006" "Familial, autosomal recessive" "" "Generalised hypotonia, poor clarity in speech and ataxia. MRI of brain showed cerebellar and brainstem atrophy" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000269405" "00198" "00374195" "00006" "Familial, autosomal recessive" "" "Ataxia, oculomotor apraxia and abnormal gait" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000269406" "00198" "00374196" "00006" "Familial, autosomal recessive" "" "Cerebellar ataxia with oculomotor apraxia" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000290701" "05519" "00397578" "00435" "Familial, autosomal recessive" "17y" "Developmental history:\r\nThe patient is a product of normal pregnancy and delivery (dizygotic twin but the other is twin is completely normal).\r\nNormal developmental milestones\r\nFamily history:\r\nHistory of consanguineous marriage (cousins)\r\nThe patient has one brother with similar illness started at the age of 8. His brother developed incoordination during walking and frequent fall on the ground. He had nystagmus (end-gaze). \r\nHistory of present illness:\r\nThe patient developed an insidious illness in the form of progressive incoordination. He dysarthria (staccato speech), nystagmus and change in the foot shape in the form of flat foot. No history suggestive of peripheral nerve affection, no sensory system affection, no sphincteric disturbance, no cognitive deterioration. No cranial nerve involvement. Normal power.\r\nNeurological examination:\r\nLimb girdle ataxia\r\nNystagmus\r\nStaccato speech\r\nNormal sensation\r\nFlat foot\r\nWide base staggering gaze\r\nNormal planter response" "08y" "24y" "Ataxia" "" "" "" "" "" "Ataxia with ocular motor apraxia type 1" "Ataxia" "" "0000290702" "05519" "00397578" "00435" "Familial, autosomal recessive" "17y" "Developmental history:\r\nThe patient is a product of normal pregnancy and delivery (dizygotic twin but the other is twin is completely normal).\r\nNormal developmental milestones\r\nFamily history:\r\nHistory of consanguineous marriage (cousins)\r\nThe patient has one brother: 9 years old), with similar illness started at the age of 8. His brother developed incoordination during walking and frequent fall on the ground. He had nystagmus (end-gaze). \r\nHistory of present illness:\r\nThe patient developed an insidious illness in the form of progressive incoordination. He dysarthria (staccato speech), nystagmus and change in the foot shape in the form of flat foot. No history suggestive of peripheral nerve affection, no sensory system affection, no sphincteric disturbance, no cognitive deterioration. No cranial nerve involvement. Normal power.\r\nNeurological examination:\r\nLimb girdle ataxia\r\nNystagmus\r\nStaccato speech\r\nNormal sensation\r\nFlat foot\r\nWide base staggering gaze\r\nNormal planter response" "08y" "24y" "Ataxia" "" "" "" "" "" "Ataxia with ocular motor apraxia type 1" "Ataxia" "" "0000296713" "05519" "00404124" "00435" "Familial, autosomal recessive" "15y" "18-y male with progressive ataxia and abnormal ocular eye movement." "07y" "" "" "" "" "" "" "" "AOA1" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 74 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000006" "00000006" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000034836" "00034766" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034837" "00034767" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000209575" "00208527" "1" "01164" "01164" "2018-12-10 11:04:21" "" "" "SEQ-NG" "DNA" "" "" "0000209976" "00208921" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 13:00:37" "SEQ" "DNA" "blood" "" "0000209977" "00208922" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 13:34:39" "SEQ" "DNA" "blood" "" "0000209978" "00208923" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 15:19:19" "SEQ" "DNA" "blood" "" "0000209979" "00208924" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 13:43:04" "SEQ" "DNA" "blood" "" "0000209980" "00208925" "1" "00547" "01833" "2013-06-07 11:18:43" "" "" "SEQ" "DNA" "blood" "" "0000209981" "00208926" "1" "00547" "01833" "2013-06-07 11:18:43" "" "" "SEQ" "DNA" "blood" "" "0000209982" "00208927" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 13:59:30" "SEQ" "DNA" "blood" "" "0000209983" "00208928" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 15:43:21" "SEQ" "DNA" "blood" "" "0000209984" "00208929" "1" "00547" "01833" "2013-06-07 11:18:43" "" "" "SEQ" "DNA" "blood" "" "0000209985" "00208930" "1" "00547" "01833" "2013-06-07 11:18:43" "" "" "SEQ" "DNA" "blood" "" "0000209986" "00208931" "1" "00547" "01833" "2013-06-07 11:18:43" "" "" "SEQ" "DNA" "blood" "" "0000209987" "00208932" "1" "00547" "01833" "2013-06-07 11:18:43" "" "" "SEQ" "DNA" "blood" "" "0000209988" "00208933" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 14:10:40" "SEQ" "DNA" "blood" "" "0000209989" "00208934" "1" "00547" "01833" "2013-06-07 11:18:43" "" "" "SEQ" "DNA" "blood" "" "0000209990" "00208935" "1" "00547" "01833" "2013-06-07 11:18:43" "" "" "SEQ" "DNA" "blood" "" "0000209991" "00208936" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 12:54:31" "SEQ" "DNA" "blood" "" "0000209992" "00208937" "1" "00547" "01833" "2013-06-07 11:18:43" "" "" "SEQ" "DNA" "blood" "" "0000209993" "00208938" "1" "00547" "01833" "2013-06-07 11:18:43" "" "" "SEQ" "DNA" "blood" "" "0000209994" "00208939" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 12:45:42" "SEQ" "DNA" "blood" "" "0000209995" "00208940" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 15:48:58" "SEQ" "DNA" "blood" "" "0000209996" "00208941" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 15:50:36" "SEQ" "DNA" "blood" "" "0000209997" "00208942" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 15:21:00" "SEQ" "DNA" "blood" "" "0000209998" "00208943" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 15:41:39" "SEQ" "DNA" "blood" "" "0000209999" "00208944" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 15:44:01" "SEQ" "DNA" "blood" "" "0000210000" "00208945" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 15:44:41" "SEQ" "DNA" "blood" "" "0000210001" "00208946" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 15:45:18" "SEQ" "DNA" "blood" "" "0000210002" "00208947" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 15:45:36" "SEQ" "DNA" "blood" "" "0000210003" "00208948" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 15:44:22" "SEQ" "DNA" "blood" "" "0000210004" "00208949" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-29 12:46:07" "SEQ" "DNA" "blood" "" "0000210005" "00208950" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-28 16:00:27" "SEQ" "DNA" "blood" "" "0000210006" "00208951" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-28 15:22:20" "SEQ" "DNA" "blood" "" "0000210007" "00208952" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-28 15:21:52" "SEQ" "DNA" "blood" "" "0000210008" "00208953" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-28 15:29:45" "SEQ" "DNA" "blood" "" "0000210009" "00208954" "1" "00547" "01833" "2013-06-07 11:18:43" "01833" "2015-07-28 15:34:08" "SEQ" "DNA" "blood" "" "0000210010" "00208955" "1" "01833" "01833" "2013-10-08 13:01:21" "" "" "SEQ" "DNA" "blood" "" "0000210011" "00208956" "1" "01833" "01833" "2013-10-08 13:01:21" "01833" "2015-07-29 08:32:02" "SEQ;Southern" "DNA" "blood" "" "0000210012" "00208957" "1" "01833" "01833" "2013-11-07 14:18:41" "" "" "SEQ" "DNA" "blood" "" "0000210013" "00208958" "1" "01833" "01833" "2013-11-07 14:18:41" "" "" "SEQ" "DNA" "blood" "" "0000210014" "00208959" "1" "01833" "01833" "2013-11-07 14:18:41" "" "" "SEQ" "DNA" "blood" "" "0000210015" "00208960" "1" "01833" "01833" "2013-11-07 14:18:41" "" "" "SEQ" "DNA" "blood" "" "0000210016" "00208961" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-30 11:04:10" "SEQ" "DNA" "blood" "" "0000210017" "00208962" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-30 10:57:01" "SEQ" "DNA" "blood" "" "0000210018" "00208963" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-30 11:02:26" "SEQ" "DNA" "blood" "" "0000210019" "00208964" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-30 10:01:42" "SEQ" "DNA" "blood" "" "0000210020" "00208965" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-30 11:27:55" "SEQ" "DNA" "blood" "" "0000210021" "00208966" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-30 12:15:26" "SEQ" "DNA" "blood" "" "0000210022" "00208967" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-30 12:22:00" "SEQ" "DNA" "blood" "" "0000210023" "00208968" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-30 13:57:56" "SEQ" "DNA" "blood" "" "0000210024" "00208969" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-30 12:17:12" "SEQ" "DNA" "blood" "" "0000210025" "00208970" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-30 12:55:14" "SEQ" "DNA" "blood" "" "0000210026" "00208971" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-30 12:52:31" "SEQ" "DNA" "blood" "" "0000210027" "00208972" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-30 10:19:34" "SEQ" "DNA" "blood" "" "0000210028" "00208973" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-30 11:33:05" "SEQ" "DNA" "blood" "" "0000210029" "00208974" "1" "01833" "01833" "2013-11-07 14:18:41" "01833" "2015-07-28 15:02:20" "SEQ;MLPA;arrayCGH;PCR" "DNA" "blood" "" "0000210030" "00208975" "1" "01833" "01833" "2014-11-26 16:06:27" "01833" "2015-07-29 10:09:36" "arrayCNV;MLPA;SEQ" "DNA" "EDTA blood" "" "0000210031" "00208976" "1" "01833" "01833" "2014-12-11 14:56:48" "01833" "2015-07-30 10:41:45" "SEQ" "DNA" "blood" "" "0000210032" "00208977" "1" "01833" "01833" "2014-12-11 14:56:48" "" "" "SEQ" "DNA" "blood" "" "0000210033" "00208978" "1" "01833" "01833" "2015-07-23 14:06:35" "01833" "2015-07-30 14:27:40" "SEQ" "DNA" "blood" "" "0000210034" "00208979" "1" "01833" "01833" "2015-07-23 14:06:35" "01833" "2015-07-30 14:18:49" "SEQ" "DNA" "blood" "" "0000210035" "00208980" "1" "00006" "00006" "2018-12-20 16:29:17" "" "" "SEQ" "DNA" "" "" "0000210036" "00208981" "1" "00006" "00006" "2018-12-20 16:32:42" "" "" "SEQ" "DNA" "" "" "0000296672" "00295504" "1" "01164" "01164" "2020-03-12 11:13:29" "" "" "SEQ-NG-S" "DNA" "" "" "0000319167" "00317985" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330445" "00329226" "1" "01807" "01807" "2021-02-08 10:38:01" "" "" "SEQ" "DNA" "" "" "0000375387" "00374193" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375388" "00374194" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375389" "00374195" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375390" "00374196" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000398817" "00397578" "1" "00435" "00435" "2021-12-24 18:19:41" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000405362" "00404124" "1" "00435" "00435" "2022-02-27 21:56:03" "" "" "SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 78 "{{screeningid}}" "{{geneid}}" "0000000006" "ACADM" "0000000006" "APTX" "0000000006" "ATP7B" "0000000006" "GALC" "0000000006" "MTHFR" "0000000006" "SERPINA1" "0000000006" "SGSH" "0000000006" "SLC26A2" "0000034836" "APTX" "0000034837" "APTX" "0000209976" "APTX" "0000209977" "APTX" "0000209978" "APTX" "0000209979" "APTX" "0000209980" "APTX" "0000209981" "APTX" "0000209982" "APTX" "0000209983" "APTX" "0000209984" "APTX" "0000209985" "APTX" "0000209986" "APTX" "0000209987" "APTX" "0000209988" "APTX" "0000209989" "APTX" "0000209990" "APTX" "0000209991" "APTX" "0000209992" "APTX" "0000209993" "APTX" "0000209994" "APTX" "0000209995" "APTX" "0000209996" "APTX" "0000209997" "APTX" "0000209998" "APTX" "0000209999" "APTX" "0000210000" "APTX" "0000210001" "APTX" "0000210002" "APTX" "0000210003" "APTX" "0000210004" "APTX" "0000210005" "APTX" "0000210006" "APTX" "0000210007" "APTX" "0000210008" "APTX" "0000210009" "APTX" "0000210010" "APTX" "0000210011" "APTX" "0000210012" "APTX" "0000210013" "APTX" "0000210014" "APTX" "0000210015" "APTX" "0000210016" "APTX" "0000210017" "APTX" "0000210018" "APTX" "0000210019" "APTX" "0000210020" "APTX" "0000210021" "APTX" "0000210022" "APTX" "0000210023" "APTX" "0000210024" "APTX" "0000210025" "APTX" "0000210026" "APTX" "0000210027" "APTX" "0000210028" "APTX" "0000210029" "APTX" "0000210030" "APTX" "0000210031" "APTX" "0000210032" "APTX" "0000210033" "APTX" "0000210034" "APTX" "0000210035" "APTX" "0000210036" "APTX" "0000319167" "APTX" "0000375387" "APTX" "0000375388" "APTX" "0000375389" "APTX" "0000375390" "APTX" "0000398817" "APTX" "0000405362" "APTX" ## 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 = 151 "{{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}}" "0000001269" "0" "50" "9" "32984803" "32984803" "subst" "0.00157569" "00002" "APTX_000006" "g.32984803C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32984805C>T" "" "VUS" "" "0000061955" "1" "50" "9" "32988188" "32988188" "subst" "0" "01164" "APTX_000051" "g.32988188T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32988190T>C" "" "VUS" "" "0000061956" "1" "90" "9" "32974493" "32974493" "subst" "0.000150605" "01164" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic" "" "0000246778" "0" "30" "9" "32986040" "32986040" "del" "0" "02330" "APTX_000069" "g.32986040del" "" "" "" "APTX(NM_001195249.1):c.484-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986042del" "" "likely benign" "" "0000246788" "0" "10" "9" "32986040" "32986040" "subst" "0" "02330" "APTX_000075" "g.32986040A>C" "" "" "" "APTX(NM_001195249.1):c.484-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986042A>C" "" "benign" "" "0000250687" "0" "10" "9" "32986040" "32986040" "del" "0" "02326" "APTX_000069" "g.32986040del" "" "" "" "APTX(NM_001195249.1):c.484-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986042del" "" "benign" "" "0000250982" "0" "10" "9" "32986040" "32986040" "subst" "0" "02326" "APTX_000075" "g.32986040A>C" "" "" "" "APTX(NM_001195249.1):c.484-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986042A>C" "" "benign" "" "0000251907" "0" "30" "9" "32984668" "32984668" "subst" "0" "02326" "APTX_000061" "g.32984668A>G" "" "" "" "APTX(NM_001195249.1):c.731T>C (p.L244P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32984670A>G" "" "likely benign" "" "0000253039" "0" "10" "9" "32986040" "32986040" "del" "0" "01943" "APTX_000069" "g.32986040del" "" "" "" "APTX(NM_001195249.1):c.484-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986042del" "" "benign" "" "0000256110" "0" "50" "9" "32987822" "32987822" "subst" "0.00000406263" "01943" "APTX_000083" "g.32987822A>G" "" "" "" "APTX(NM_175073.2):c.203T>C (p.I68T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32987824A>G" "" "VUS" "" "0000256236" "0" "50" "9" "32984657" "32984657" "subst" "0.00136132" "01943" "APTX_000058" "g.32984657A>T" "" "" "" "APTX(NM_001195249.1):c.742T>A (p.L248M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32984659A>T" "" "VUS" "" "0000258272" "0" "30" "9" "32986041" "32986062" "del" "0" "02330" "APTX_000071" "g.32986041_32986062del" "" "" "" "APTX(NM_001195249.1):c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT, APTX(NM_001195249.2):c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986043_32986064del" "" "likely benign" "" "0000258792" "0" "10" "9" "32986041" "32986062" "del" "0" "02325" "APTX_000071" "g.32986041_32986062del" "" "" "" "APTX(NM_001195249.1):c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT, APTX(NM_001195249.2):c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986043_32986064del" "" "benign" "" "0000259517" "0" "30" "9" "32986041" "32986041" "del" "0" "02325" "APTX_000076" "g.32986041del" "" "" "" "APTX(NM_001195249.2):c.484-25_484-13delGTTTTTTTTTTTGinsGTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986043del" "" "likely benign" "" "0000259518" "0" "30" "9" "32973554" "32973554" "subst" "0.00115459" "02325" "APTX_000052" "g.32973554T>A" "" "" "" "APTX(NM_001195249.1):c.971A>T (p.Q324L), APTX(NM_001195249.2):c.971A>T (p.Q324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32973556T>A" "" "likely benign" "" "0000261021" "0" "10" "9" "33001549" "33001549" "subst" "0.00149364" "02326" "APTX_000068" "g.33001549C>A" "" "" "" "APTX(NR_160931.1):n.78G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33001551C>A" "" "benign" "" "0000261022" "0" "10" "9" "32987594" "32987594" "subst" "0.00566829" "02326" "APTX_000079" "g.32987594G>T" "" "" "" "APTX(NM_001195249.1):c.431C>A (p.S144Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32987596G>T" "" "benign" "" "0000261023" "0" "10" "9" "32986041" "32986041" "subst" "0" "02326" "APTX_000070" "g.32986041C>A" "" "" "" "APTX(NM_001195249.1):c.484-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986043C>A" "" "benign" "" "0000261024" "0" "10" "9" "32986041" "32986062" "del" "0" "02326" "APTX_000071" "g.32986041_32986062del" "" "" "" "APTX(NM_001195249.1):c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT, APTX(NM_001195249.2):c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986043_32986064del" "" "benign" "" "0000261025" "0" "30" "9" "32986041" "32986061" "del" "0" "02326" "APTX_000072" "g.32986041_32986061del" "" "" "" "APTX(NM_001195249.1):c.484-25_484-5delGTTTTTTTTTTTGTTTTTTTT, APTX(NM_175073.2):c.484-25_484-5delGTTTTTTTTTTTGTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986043_32986063del" "" "likely benign" "" "0000261026" "0" "10" "9" "32986053" "32986053" "subst" "0" "02326" "APTX_000077" "g.32986053C>A" "" "" "" "APTX(NM_001195249.1):c.484-25G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986055C>A" "" "benign" "" "0000261027" "0" "90" "9" "32984840" "32984840" "subst" "0.00000812447" "02326" "APTX_000063" "g.32984840G>A" "" "" "" "APTX(NM_001195249.1):c.559C>T (p.Q187*), APTX(NM_175073.2):c.559C>T (p.Q187*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32984842G>A" "" "pathogenic" "" "0000261029" "0" "10" "9" "32973727" "32973727" "del" "0" "02326" "APTX_000054" "g.32973727del" "" "" "" "APTX(NM_001195249.1):c.875-60delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32973729del" "" "benign" "" "0000261030" "0" "30" "9" "32973607" "32973607" "subst" "0" "02326" "APTX_000053" "g.32973607T>C" "" "" "" "APTX(NM_001195249.1):c.918A>G (p.R306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32973609T>C" "" "likely benign" "" "0000261031" "0" "30" "9" "32973554" "32973554" "subst" "0.00115459" "02326" "APTX_000052" "g.32973554T>A" "" "" "" "APTX(NM_001195249.1):c.971A>T (p.Q324L), APTX(NM_001195249.2):c.971A>T (p.Q324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32973556T>A" "" "likely benign" "" "0000262728" "0" "50" "9" "32989765" "32989765" "subst" "0.00000812288" "01943" "APTX_000084" "g.32989765C>A" "" "" "" "APTX(NM_175073.2):c.125G>T (p.R42L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32989767C>A" "" "VUS" "" "0000262729" "0" "50" "9" "32989872" "32989872" "subst" "0.000520156" "01943" "APTX_000067" "g.32989872C>A" "" "" "" "APTX(NM_001195249.1):c.18G>T (p.W6C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32989874C>A" "" "VUS" "" "0000262730" "0" "30" "9" "32987814" "32987814" "subst" "0.0000203151" "01943" "APTX_000082" "g.32987814C>A" "" "" "" "APTX(NM_001195249.1):c.211G>T (p.V71F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32987816C>A" "" "likely benign" "" "0000262731" "0" "30" "9" "32987791" "32987791" "subst" "0" "01943" "APTX_000081" "g.32987791C>T" "" "" "" "APTX(NM_001195249.1):c.234G>A (p.E78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32987793C>T" "" "likely benign" "" "0000262732" "0" "30" "9" "32987707" "32987707" "subst" "0.00200307" "01943" "APTX_000080" "g.32987707G>A" "" "" "" "APTX(NM_001195249.1):c.318C>T (p.N106=), APTX(NM_175073.2):c.318C>T (p.N106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32987709G>A" "" "likely benign" "" "0000262733" "0" "30" "9" "32989852" "32989852" "subst" "0.0000324931" "01943" "APTX_000066" "g.32989852C>T" "" "" "" "APTX(NM_001195249.1):c.38G>A (p.R13Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32989854C>T" "" "likely benign" "" "0000262734" "0" "10" "9" "32987568" "32987568" "subst" "0.000820978" "01943" "APTX_000078" "g.32987568T>C" "" "" "" "APTX(NM_001195249.1):c.457A>G (p.K153E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32987570T>C" "" "benign" "" "0000262735" "0" "10" "9" "32986041" "32986061" "del" "0" "01943" "APTX_000072" "g.32986041_32986061del" "" "" "" "APTX(NM_001195249.1):c.484-25_484-5delGTTTTTTTTTTTGTTTTTTTT, APTX(NM_175073.2):c.484-25_484-5delGTTTTTTTTTTTGTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986043_32986063del" "" "benign" "" "0000262736" "0" "10" "9" "32985939" "32985939" "subst" "0.0747352" "01943" "APTX_000064" "g.32985939T>G" "" "" "" "APTX(NM_175073.2):c.543+30A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32985941T>G" "" "benign" "" "0000262737" "0" "90" "9" "32984840" "32984840" "subst" "0.00000812447" "01943" "APTX_000063" "g.32984840G>A" "" "" "" "APTX(NM_001195249.1):c.559C>T (p.Q187*), APTX(NM_175073.2):c.559C>T (p.Q187*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32984842G>A" "" "pathogenic" "" "0000262738" "0" "90" "9" "32984806" "32984806" "subst" "0.0000121828" "01943" "APTX_000062" "g.32984806G>A" "" "" "" "APTX(NM_175073.2):c.593C>T (p.A198V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32984808G>A" "" "pathogenic" "" "0000262739" "0" "90" "9" "32984803" "32984803" "subst" "0.00157569" "01943" "APTX_000006" "g.32984803C>T" "" "" "" "APTX(NM_001195249.1):c.596G>A (p.R199H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32984805C>T" "" "pathogenic" "" "0000262740" "0" "50" "9" "32984665" "32984665" "subst" "0.0000121891" "01943" "APTX_000060" "g.32984665C>T" "" "" "" "APTX(NM_175073.2):c.734G>A (p.R245H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32984667C>T" "" "VUS" "" "0000262741" "0" "90" "9" "32984660" "32984660" "subst" "0.0000121899" "01943" "APTX_000059" "g.32984660G>A" "" "" "" "APTX(NM_001195249.1):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32984662G>A" "" "pathogenic" "" "0000262743" "0" "90" "9" "32974493" "32974493" "subst" "0.000150605" "01943" "APTX_000004" "g.32974493C>T" "" "" "" "APTX(NM_001368999.1):c.837G>A (p.W279*), APTX(NM_175073.2):c.837G>A (p.W279*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic" "" "0000262744" "0" "50" "9" "32974483" "32974483" "subst" "0" "01943" "APTX_000055" "g.32974483T>C" "" "" "" "APTX(NM_001195248.1):c.889A>G (p.(Asn297Asp)), APTX(NM_175073.2):c.847A>G (p.N283D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32974485T>C" "" "VUS" "" "0000262745" "0" "10" "9" "32973554" "32973554" "subst" "0.00115459" "01943" "APTX_000052" "g.32973554T>A" "" "" "" "APTX(NM_001195249.1):c.971A>T (p.Q324L), APTX(NM_001195249.2):c.971A>T (p.Q324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32973556T>A" "" "benign" "" "0000332593" "0" "50" "9" "32986041" "32986060" "del" "0" "01804" "APTX_000027" "g.32986041_32986060del" "" "" "" "APTX(NM_001195248.1):c.526-25_526-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986043_32986062del" "" "VUS" "" "0000337794" "0" "30" "9" "32986041" "32986041" "subst" "0" "02327" "APTX_000070" "g.32986041C>A" "" "" "" "APTX(NM_001195249.1):c.484-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32986043C>A" "" "likely benign" "" "0000439728" "3" "99" "9" "32974493" "32974493" "subst" "0.000150605" "01164" "APTX_000004" "g.32974493C>T" "" "" "" "" "ACMG grading: PM2,PM3,PVS1,PP5" "Germline" "" "rs104894103" "0" "" "" "g.32974495C>T" "" "pathogenic" "ACMG" "0000441111" "0" "33" "9" "32987568" "32987568" "subst" "0.000820978" "00547" "APTX_000001" "g.32987568T>C" "" "{PMID:Baba 2007:17049295}" "" "" "" "Germline" "" "" "0" "" "" "g.32987570T>C" "" "likely benign" "" "0000441112" "0" "99" "9" "32984810" "32984810" "subst" "0" "00547" "APTX_000003" "g.32984810T>G" "" "{PMID:Tranchant 2003:12629250}" "" "" "" "Germline" "" "" "0" "" "" "g.32984812T>G" "" "pathogenic (recessive)" "" "0000441113" "0" "99" "9" "32974493" "32974493" "subst" "0.000150605" "00547" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441114" "3" "99" "9" "32984806" "32984806" "subst" "0.0000121828" "00547" "APTX_000005" "g.32984806G>A" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "g.32984808G>A" "" "pathogenic (recessive)" "" "0000441115" "11" "99" "9" "32984803" "32984803" "subst" "0.00157569" "00547" "APTX_000006" "g.32984803C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "no maternal variant identified" "Germline" "" "" "0" "" "" "g.32984805C>T" "" "pathogenic (recessive)" "" "0000441116" "21" "11" "9" "32986041" "32986060" "del" "0" "01833" "APTX_000027" "g.32986041_32986060del" "" "{PMID:Moreira 2001:11586300}" "" "484-31_484-12del20" "" "Germline" "" "" "0" "" "" "g.32986043_32986062del" "" "benign" "" "0000441117" "21" "11" "9" "32974579" "32974579" "del" "0" "01833" "APTX_000028" "g.32974579del" "" "{PMID:Moreira 2001:11586300}" "" "771-11delT" "" "Germline" "" "" "0" "" "" "g.32974581del" "" "benign" "" "0000441118" "3" "99" "9" "32984797" "32984797" "subst" "0" "00547" "APTX_000007" "g.32984797T>C" "" "{PMID:Shimazaki 2002:12196655}" "" "nt 80 (A>G)" "" "Germline" "" "" "0" "" "" "g.32984799T>C" "" "pathogenic (recessive)" "" "0000441119" "3" "99" "9" "32984796" "32984796" "subst" "0" "00547" "APTX_000008" "g.32984796A>T" "" "{PMID:Criscuolo 2004:15596775}" "" "" "" "Germline" "" "" "0" "" "" "g.32984798A>T" "" "pathogenic (recessive)" "" "0000441120" "3" "99" "9" "32984782" "32984782" "subst" "0.0000243661" "00547" "APTX_000009" "g.32984782G>A" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "g.32984784G>A" "" "pathogenic (recessive)" "" "0000441121" "3" "99" "9" "32984782" "32984782" "subst" "0.0000243661" "00547" "APTX_000009" "g.32984782G>A" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "g.32984784G>A" "" "pathogenic (recessive)" "" "0000441122" "3" "99" "9" "32984731" "32984731" "subst" "0.00000406134" "00547" "APTX_000010" "g.32984731A>G" "" "{PMID:Criscuolo 2005:15852392}" "" "" "" "Germline" "" "" "0" "" "" "g.32984733A>G" "" "pathogenic (recessive)" "" "0000441123" "0" "95" "9" "32984716" "32984716" "subst" "0" "00547" "APTX_000011" "g.32984716T>C" "" "{PMID:Fogel 2006:17159128}" "" "" "" "Germline" "" "" "0" "" "" "g.32984718T>C" "" "pathogenic (recessive)" "" "0000441124" "3" "99" "9" "32984710" "32984710" "dup" "0" "00547" "APTX_000012" "g.32984710dup" "" "{PMID:Moreira 2001:11586300}" "" "689insT" "" "Germline" "" "" "0" "" "" "g.32984712dup" "" "pathogenic (recessive)" "" "0000441125" "3" "99" "9" "32984710" "32984710" "dup" "0" "00547" "APTX_000012" "g.32984710dup" "" "{PMID:Moreira 2001:11586300}" "" "690insT" "" "Germline" "" "" "0" "" "" "g.32984712dup" "" "pathogenic (recessive)" "" "0000441126" "1" "99" "9" "32984782" "32984782" "subst" "0.0000243661" "00547" "APTX_000009" "g.32984782G>A" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "g.32984784G>A" "" "pathogenic (recessive)" "" "0000441127" "2" "99" "9" "32984710" "32984710" "dup" "0" "00547" "APTX_000012" "g.32984710dup" "" "{PMID:Moreira 2001:11586300}" "" "690insT" "" "Germline" "" "" "0" "" "" "g.32984712dup" "" "pathogenic (recessive)" "" "0000441128" "3" "99" "9" "32984710" "32984710" "subst" "0.0000162462" "00547" "APTX_000013" "g.32984710A>C" "" "{PMID:Ferrarini 2007:17572444}" "" "" "" "Germline" "" "" "0" "" "" "g.32984712A>C" "" "pathogenic (recessive)" "" "0000441129" "0" "99" "9" "32984710" "32984710" "dup" "0" "00547" "APTX_000012" "g.32984710dup" "" "" "" "690insT" "" "Germline" "" "" "0" "" "" "g.32984712dup" "" "pathogenic (recessive)" "" "0000441130" "0" "99" "9" "32984707" "32984707" "subst" "0" "00547" "APTX_000014" "g.32984707C>T" "" "{PMID:Ito 2005:15876520}" "" "" "" "Germline" "" "" "0" "" "" "g.32984709C>T" "" "pathogenic (recessive)" "" "0000441131" "0" "95" "9" "32984674" "32984674" "subst" "0" "00547" "APTX_000015" "g.32984674C>T" "" "{PMID:Baba 2007:17049295}" "" "" "" "Germline" "" "" "0" "" "" "g.32984676C>T" "" "pathogenic (recessive)" "" "0000441132" "3" "99" "9" "32984660" "32984660" "subst" "0.0000121899" "00547" "APTX_000016" "g.32984660G>A" "" "{PMID:Mosesso 2005:15719174}" "" "" "" "Germline" "" "" "0" "" "" "g.32984662G>A" "" "pathogenic (recessive)" "" "0000441133" "3" "55" "9" "32974549" "32974549" "subst" "0.00000411756" "00547" "APTX_000017" "g.32974549G>A" "" "{PMID:H\'mida-Ben Brahim 2011:20798953}" "" "" "" "Germline" "" "" "0" "" "" "g.32974551G>A" "" "VUS" "" "0000441134" "0" "99" "9" "32984782" "32984782" "subst" "0.0000243661" "00547" "APTX_000009" "g.32984782G>A" "" "{PMID:Date 2001:11586299}" "" "" "" "Germline" "" "" "0" "" "" "g.32984784G>A" "" "pathogenic (recessive)" "" "0000441135" "0" "99" "9" "32974542" "32974542" "subst" "0" "00547" "APTX_000018" "g.32974542A>C" "" "{PMID:Date 2001:11586299}" "" "" "" "Germline" "" "" "0" "" "" "g.32974544A>C" "" "pathogenic (recessive)" "" "0000441136" "0" "95" "9" "32974530" "32974530" "subst" "0" "00547" "APTX_000019" "g.32974530T>C" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "g.32974532T>C" "" "pathogenic (recessive)" "" "0000441137" "3" "99" "9" "32974493" "32974493" "subst" "0.000150605" "00547" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441138" "0" "95" "9" "32974530" "32974530" "subst" "0" "00547" "APTX_000019" "g.32974530T>C" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "g.32974532T>C" "" "pathogenic (recessive)" "" "0000441139" "3" "99" "9" "32974493" "32974493" "subst" "0.000150605" "00547" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441140" "0" "99" "9" "32984628" "32984628" "subst" "0" "00547" "APTX_000020" "g.32984628C>T" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "g.32984630C>T" "" "pathogenic (recessive)" "" "0000441141" "0" "99" "9" "32974495" "32974495" "subst" "0.0000040705" "00547" "APTX_000021" "g.32974495A>G" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "g.32974497A>G" "" "pathogenic (recessive)" "" "0000441142" "0" "99" "9" "32984628" "32984628" "subst" "0" "00547" "APTX_000020" "g.32984628C>T" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "g.32984630C>T" "" "pathogenic (recessive)" "" "0000441143" "0" "99" "9" "32974495" "32974495" "subst" "0.0000040705" "00547" "APTX_000021" "g.32974495A>G" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "g.32974497A>G" "" "pathogenic (recessive)" "" "0000441144" "3" "99" "9" "32974493" "32974493" "subst" "0.000150605" "00547" "APTX_000004" "g.32974493C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441145" "3" "99" "9" "32974493" "32974493" "subst" "0.000150605" "00547" "APTX_000004" "g.32974493C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441146" "3" "99" "9" "32974493" "32974493" "subst" "0.000150605" "00547" "APTX_000004" "g.32974493C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441147" "3" "99" "9" "32974493" "32974493" "subst" "0.000150605" "00547" "APTX_000004" "g.32974493C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441148" "3" "99" "9" "32974493" "32974493" "subst" "0.000150605" "00547" "APTX_000004" "g.32974493C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441149" "0" "99" "9" "32984710" "32984710" "dup" "0" "00547" "APTX_000012" "g.32984710dup" "" "{PMID:Date 2001:11586299}" "" "689dupT" "" "Germline" "" "" "0" "" "" "g.32984712dup" "" "pathogenic (recessive)" "" "0000441150" "0" "99" "9" "32974490" "32974490" "del" "0" "00547" "APTX_000022" "g.32974490del" "" "{PMID:Date 2001:11586299}, {PMID:Seidle et al 2005:15790557}" "" "840delT" "" "Germline" "" "" "0" "" "" "g.32974492del" "" "pathogenic (recessive)" "" "0000441151" "3" "99" "9" "32973633" "32973633" "subst" "0" "00547" "APTX_000023" "g.32973633G>A" "" "{PMID:Crimella 2011:21412945}" "" "" "" "Germline" "" "" "0" "" "" "g.32973635G>A" "" "pathogenic (recessive)" "" "0000441152" "3" "99" "9" "32973609" "32973609" "subst" "0.000012197" "00547" "APTX_000024" "g.32973609G>A" "" "{PMID:Castellotti 2011:21465257}" "" "" "" "Germline" "" "" "0" "" "" "g.32973611G>A" "" "pathogenic (recessive)" "" "0000441153" "0" "99" "9" "32974493" "32974493" "subst" "0.000150605" "00547" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441154" "0" "99" "9" "32973609" "32973609" "subst" "0.000012197" "00547" "APTX_000024" "g.32973609G>A" "" "{PMID:Castellotti 2011:21465257}" "" "" "" "Germline" "" "" "0" "" "" "g.32973611G>A" "" "pathogenic (recessive)" "" "0000441155" "1" "99" "9" "32987548" "32987548" "del" "0" "00547" "APTX_000025" "g.32987548del" "" "{PMID:Castellotti 2011:21465257}" "" "477delC" "" "Germline" "" "" "0" "" "" "g.32987550del" "" "pathogenic (recessive)" "" "0000441156" "0" "99" "9" "32974493" "32974493" "subst" "0.000150605" "00547" "APTX_000004" "g.32974493C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441157" "0" "99" "9" "32985971" "32985971" "subst" "0" "00547" "APTX_000026" "g.32985971G>A" "" "{PMID:Castellotti 2011:21465257}" "" "" "" "Germline" "" "" "0" "" "" "g.32985973G>A" "" "pathogenic (recessive)" "" "0000441158" "0" "99" "9" "32974493" "32974493" "subst" "0.000150605" "00547" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441159" "3" "99" "9" "32984799" "32984799" "del" "0" "01833" "APTX_000029" "g.32984799del" "" "{PMID:Nouri et al 2012:23183622}" "" "643delC" "" "Germline" "" "" "0" "" "" "g.32984801del" "" "pathogenic (recessive)" "" "0000441160" "3" "99" "9" "32973495" "32989890" "del" "0" "01833" "APTX_000030" "g.(?_32973495)_(32989890_?)del" "" "{PMID:Amouri 2004:15365154}" "" "complete APTX deletion" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000441161" "0" "11" "9" "32973554" "32973554" "subst" "0.00115459" "01833" "APTX_000031" "g.32973554T>A" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "g.32973556T>A" "" "benign" "" "0000441162" "0" "11" "9" "32986041" "32986061" "del" "0" "01833" "APTX_000032" "g.32986041_32986061del" "" "" "" "484-25_484-5del21" "delGTTTTTTTTTTTGTTTTTTTT" "Germline" "" "" "0" "" "" "g.32986043_32986063del" "" "benign" "" "0000441163" "0" "11" "9" "32974579" "32974579" "dup" "0" "01833" "APTX_000033" "g.32974579dup" "" "" "" "771-12dupT" "" "Germline" "" "" "0" "" "" "g.32974581dup" "" "benign" "" "0000441164" "0" "11" "9" "32985939" "32985939" "subst" "0.0747352" "01833" "APTX_000034" "g.32985939T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32985941T>G" "" "benign" "" "0000441165" "0" "33" "9" "32987594" "32987594" "subst" "0.00566829" "01833" "APTX_000035" "g.32987594G>T" "" "" "" "" "probably not pathogenic" "Germline" "" "" "0" "" "" "g.32987596G>T" "" "likely benign" "" "0000441166" "0" "33" "9" "32987594" "32987594" "subst" "0.00566829" "01833" "APTX_000035" "g.32987594G>T" "" "" "" "" "probably not pathogenic" "Germline" "" "" "0" "" "" "g.32987596G>T" "" "likely benign" "" "0000441167" "0" "33" "9" "32987594" "32987594" "subst" "0.00566829" "01833" "APTX_000035" "g.32987594G>T" "" "van Minkelen et al. In preparation" "" "" "probably not pathogenic" "Germline" "" "" "0" "" "" "g.32987596G>T" "" "likely benign" "" "0000441168" "0" "33" "9" "32987814" "32987814" "subst" "0.0000203151" "01833" "APTX_000036" "g.32987814C>A" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "g.32987816C>A" "" "likely benign" "" "0000441169" "0" "55" "9" "32984657" "32984657" "subst" "0.00136132" "01833" "APTX_000037" "g.32984657A>T" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "g.32984659A>T" "" "VUS" "" "0000441170" "0" "55" "9" "32984657" "32984657" "subst" "0.00136132" "01833" "APTX_000037" "g.32984657A>T" "" "van Minkelen et al. In preparation" "" "" "" "Germline" "" "" "0" "" "" "g.32984659A>T" "" "VUS" "" "0000441171" "0" "99" "9" "32984840" "32984840" "subst" "0.00000812447" "01833" "APTX_000038" "g.32984840G>A" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "g.32984842G>A" "" "pathogenic (recessive)" "" "0000441172" "0" "99" "9" "32974493" "32974493" "subst" "0.000150605" "01833" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441173" "0" "99" "9" "32984840" "32984840" "subst" "0.00000812447" "01833" "APTX_000038" "g.32984840G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32984842G>A" "" "pathogenic (recessive)" "" "0000441174" "0" "99" "9" "32984803" "32984803" "subst" "0.00157569" "01833" "APTX_000006" "g.32984803C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32984805C>T" "" "pathogenic (recessive)" "" "0000441175" "3" "99" "9" "32984660" "32984660" "subst" "0.0000121899" "01833" "APTX_000016" "g.32984660G>A" "" "{PMID:Mosesso 2005:15719174}" "" "" "" "Germline" "" "" "0" "" "" "g.32984662G>A" "" "pathogenic (recessive)" "" "0000441176" "0" "99" "9" "32974493" "32974493" "subst" "0.000150605" "01833" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441177" "0" "55" "9" "32974483" "32974483" "subst" "0" "01833" "APTX_000039" "g.32974483T>C" "" "{PMID:Avan Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "g.32974485T>C" "" "VUS" "" "0000441178" "3" "99" "9" "32974493" "32974493" "subst" "0.000150605" "01833" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "pathogenic (recessive)" "" "0000441179" "3" "99" "9" "32984806" "32984806" "subst" "0.0000121828" "01833" "APTX_000005" "g.32984806G>A" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "g.32984808G>A" "" "pathogenic (recessive)" "" "0000441180" "3" "99" "9" "32928505" "32988660" "del" "0" "01833" "APTX_000041" "g.32928505_32988660del" "" "{PMID:van Minkelen 2015:26285866}" "" "5+1225_*44991del67512" "" "Germline" "yes" "" "0" "" "" "g.32928507_32988662del" "" "pathogenic (recessive)" "" "0000441181" "3" "99" "9" "32858130" "33025183" "del" "0" "01833" "APTX_000042" "g.32858130_33025183del" "" "{PMID:Yoon 2009:21686683}, {PMID:van Minkelen 2015:26285866}" "" "-23729_*115366del155489" "" "Germline" "yes" "" "0" "" "" "g.32858132_33025185del" "" "pathogenic (recessive)" "" "0000441182" "3" "99" "9" "32973572" "32973588" "del" "0" "01833" "APTX_000043" "g.32973572_32973588del" "" "{PMID:Avan Minkelen 2015:26285866}" "" "940_956del17" "" "Germline" "" "" "0" "" "" "g.32973574_32973590del" "" "pathogenic (recessive)" "" "0000441183" "0" "33" "9" "32987707" "32987707" "subst" "0.00200307" "01833" "APTX_000044" "g.32987707G>A" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "g.32987709G>A" "" "likely benign" "" "0000441184" "0" "33" "9" "32989872" "32989872" "subst" "0.000520156" "01833" "APTX_000045" "g.32989872C>A" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "g.32989874C>A" "" "likely benign" "" "0000441185" "0" "55" "9" "32987822" "32987822" "subst" "0.00000406263" "01833" "APTX_000046" "g.32987822A>G" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "g.32987824A>G" "" "VUS" "" "0000441186" "3" "90" "9" "32973651" "32973651" "subst" "0" "00006" "APTX_000085" "g.32973651C>T" "" "{PMID:Amouri 2004:15365154}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32973653C>T" "" "pathogenic (recessive)" "" "0000441187" "3" "90" "9" "32973651" "32973651" "subst" "0" "00006" "APTX_000085" "g.32973651C>T" "" "{PMID:Amouri 2004:15365154}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32973653C>T" "" "pathogenic (recessive)" "" "0000537953" "0" "90" "9" "32974493" "32974493" "subst" "0.000150605" "02327" "APTX_000004" "g.32974493C>T" "" "" "" "APTX(NM_001368999.1):c.837G>A (p.W279*), APTX(NM_175073.2):c.837G>A (p.W279*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32974495C>T" "" "pathogenic" "" "0000537954" "0" "10" "9" "32974578" "32974579" "dup" "0" "02330" "APTX_000086" "g.32974578_32974579dup" "" "" "" "APTX(NM_001195249.1):c.771-13_771-12dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32974580_32974581dup" "" "benign" "" "0000537956" "0" "10" "9" "32974579" "32974579" "dup" "0" "01943" "APTX_000033" "g.32974579dup" "" "" "" "APTX(NM_001195249.1):c.771-12dupT, APTX(NM_175073.2):c.771-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32974581dup" "" "benign" "" "0000537957" "0" "10" "9" "32974579" "32974579" "dup" "0" "02326" "APTX_000033" "g.32974579dup" "" "" "" "APTX(NM_001195249.1):c.771-12dupT, APTX(NM_175073.2):c.771-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32974581dup" "" "benign" "" "0000537959" "0" "50" "9" "32984637" "32984637" "subst" "0.000854131" "01943" "APTX_000088" "g.32984637C>T" "" "" "" "APTX(NM_001195249.1):c.762G>A (p.P254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32984639C>T" "" "VUS" "" "0000537960" "0" "30" "9" "32986031" "32986031" "subst" "0" "01804" "APTX_000089" "g.32986031A>G" "" "" "" "APTX(NM_001195248.1):c.526-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32986033A>G" "" "likely benign" "" "0000537961" "0" "30" "9" "32986039" "32986040" "ins" "0" "02330" "APTX_000090" "g.32986039_32986040insC" "" "" "" "APTX(NM_001195249.1):c.484-12_484-11insG, APTX(NM_001195249.2):c.484-12_484-11insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32986041_32986042insC" "" "likely benign" "" "0000537962" "0" "10" "9" "32986039" "32986040" "ins" "0" "02325" "APTX_000090" "g.32986039_32986040insC" "" "" "" "APTX(NM_001195249.1):c.484-12_484-11insG, APTX(NM_001195249.2):c.484-12_484-11insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32986041_32986042insC" "" "benign" "" "0000537966" "0" "10" "9" "32986049" "32986050" "ins" "0" "02330" "APTX_000094" "g.32986049_32986050insCA" "" "" "" "APTX(NM_001195249.1):c.484-21_484-20insGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32986051_32986052insCA" "" "benign" "" "0000537967" "0" "10" "9" "32987594" "32987594" "subst" "0.00566829" "02330" "APTX_000035" "g.32987594G>T" "" "" "" "APTX(NM_001195249.1):c.431C>A (p.S144Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32987596G>T" "" "benign" "" "0000537968" "0" "10" "9" "32987647" "32987647" "subst" "0.0000609781" "02330" "APTX_000095" "g.32987647C>T" "" "" "" "APTX(NM_001195249.1):c.378G>A (p.R126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32987649C>T" "" "benign" "" "0000537969" "0" "30" "9" "32987678" "32987678" "subst" "0.00000812724" "01943" "APTX_000096" "g.32987678T>C" "" "" "" "APTX(NM_001195249.1):c.347A>G (p.K116R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32987680T>C" "" "likely benign" "" "0000537970" "0" "10" "9" "32987707" "32987707" "subst" "0.00200307" "02330" "APTX_000044" "g.32987707G>A" "" "" "" "APTX(NM_001195249.1):c.318C>T (p.N106=), APTX(NM_175073.2):c.318C>T (p.N106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32987709G>A" "" "benign" "" "0000537971" "0" "50" "9" "32989889" "32989889" "subst" "0" "02325" "APTX_000097" "g.32989889T>C" "" "" "" "APTX(NM_001195249.2):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32989891T>C" "" "VUS" "" "0000537972" "0" "30" "9" "32989908" "32989908" "subst" "0.00000414216" "02330" "APTX_000098" "g.32989908A>G" "" "" "" "APTX(NM_001195249.1):c.-4-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32989910A>G" "" "likely benign" "" "0000612078" "0" "50" "9" "32986007" "32986007" "subst" "0" "01804" "APTX_000099" "g.32986007G>A" "" "" "" "APTX(NM_001195248.1):c.547C>T (p.(Gln183Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32986009G>A" "" "VUS" "" "0000612079" "0" "50" "9" "32986019" "32986019" "subst" "0" "01804" "APTX_000100" "g.32986019C>A" "" "" "" "APTX(NM_001195248.1):c.535G>T (p.(Gly179Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32986021C>A" "" "VUS" "" "0000653364" "3" "73" "9" "32984660" "32984660" "subst" "0.0000121899" "01164" "APTX_000016" "g.32984660G>A" "" "Mosesso et al. 2005. Cell 62: 485" "" "" "" "Germline" "" "rs778258042" "0" "" "" "g.32984662G>A" "" "likely pathogenic" "ACMG" "0000656343" "0" "30" "9" "32974483" "32974483" "subst" "0" "01804" "APTX_000039" "g.32974483T>C" "" "" "" "APTX(NM_001195248.1):c.889A>G (p.(Asn297Asp)), APTX(NM_175073.2):c.847A>G (p.N283D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32974485T>C" "" "likely benign" "" "0000701831" "3" "70" "9" "32984803" "32984803" "del" "0.0000162439" "00006" "APTX_000102" "g.32984803del" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.32984805del" "" "VUS" "" "0000715041" "3" "90" "9" "32989766" "32989766" "subst" "0.0000446762" "01807" "APTX_000103" "g.32989766G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000786738" "3" "70" "9" "32984803" "32984803" "del" "0.0000162439" "00006" "APTX_000102" "g.32984803del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs770007531" "0" "" "" "g.32984805del" "" "likely pathogenic" "" "0000786739" "3" "70" "9" "32984803" "32984803" "del" "0.0000162439" "00006" "APTX_000102" "g.32984803del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs770007531" "0" "" "" "g.32984805del" "" "likely pathogenic" "" "0000786740" "3" "70" "9" "32984803" "32984803" "del" "0.0000162439" "00006" "APTX_000102" "g.32984803del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs770007531" "0" "" "" "g.32984805del" "" "likely pathogenic" "" "0000786741" "3" "70" "9" "32973652" "32973652" "subst" "0" "00006" "APTX_000104" "g.32973652T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.32973654T>C" "" "likely pathogenic" "" "0000804095" "0" "30" "9" "32973540" "32973540" "subst" "0.00000813266" "01943" "APTX_000105" "g.32973540T>C" "" "" "" "APTX(NM_001195249.1):c.985A>G (p.I329V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804096" "0" "90" "9" "32974493" "32974493" "subst" "0.000150605" "02329" "APTX_000004" "g.32974493C>T" "" "" "" "APTX(NM_001368999.1):c.837G>A (p.W279*), APTX(NM_175073.2):c.837G>A (p.W279*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000831077" "3" "99" "9" "32974487" "32974487" "del" "0" "00435" "APTX_000106" "g.32974487del" "" "" "" "887delT" "" "Germline" "yes" "" "0" "" "" "g.32974489del" "" "pathogenic (recessive)" "" "0000841450" "3" "99" "9" "32974487" "32974487" "del" "0" "00435" "APTX_000107" "g.32974487del" "" "" "" "887delT" "" "Germline" "yes" "" "0" "" "" "g.32974489del" "" "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 APTX ## Count = 215 "{{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}}" "0000001269" "00023876" "50" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199His)" "7" "0000001269" "00025574" "50" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Arg213His)" "" "0000061955" "00023876" "50" "134" "-61" "134" "-61" "c.134-61A>G" "r.(=)" "p.(=)" "3i" "0000061956" "00023876" "90" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000246778" "00023876" "30" "484" "-3" "484" "-3" "c.484-3del" "r.spl?" "p.?" "" "0000246778" "00025574" "30" "526" "-3" "526" "-3" "c.526-3del" "r.spl?" "p.?" "" "0000246788" "00023876" "10" "484" "-12" "484" "-12" "c.484-12T>G" "r.(=)" "p.(=)" "" "0000246788" "00025574" "10" "526" "-12" "526" "-12" "c.526-12T>G" "r.(=)" "p.(=)" "" "0000250687" "00023876" "10" "484" "-3" "484" "-3" "c.484-3del" "r.spl?" "p.?" "" "0000250687" "00025574" "10" "526" "-3" "526" "-3" "c.526-3del" "r.spl?" "p.?" "" "0000250982" "00023876" "10" "484" "-12" "484" "-12" "c.484-12T>G" "r.(=)" "p.(=)" "" "0000250982" "00025574" "10" "526" "-12" "526" "-12" "c.526-12T>G" "r.(=)" "p.(=)" "" "0000251907" "00023876" "30" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "" "0000251907" "00025574" "30" "773" "0" "773" "0" "c.773T>C" "r.(?)" "p.(Leu258Pro)" "" "0000253039" "00023876" "10" "484" "-3" "484" "-3" "c.484-3del" "r.spl?" "p.?" "" "0000253039" "00025574" "10" "526" "-3" "526" "-3" "c.526-3del" "r.spl?" "p.?" "" "0000256110" "00023876" "50" "203" "0" "203" "0" "c.203T>C" "r.(?)" "p.(Ile68Thr)" "" "0000256110" "00025574" "50" "245" "0" "245" "0" "c.245T>C" "r.(?)" "p.(Ile82Thr)" "" "0000256236" "00023876" "50" "742" "0" "742" "0" "c.742T>A" "r.(?)" "p.(Leu248Met)" "" "0000256236" "00025574" "50" "784" "0" "784" "0" "c.784T>A" "r.(?)" "p.(Leu262Met)" "" "0000258272" "00023876" "30" "484" "-25" "484" "-4" "c.484-25_484-4del" "r.spl?" "p.?" "" "0000258272" "00025574" "30" "526" "-25" "526" "-4" "c.526-25_526-4del" "r.spl?" "p.?" "" "0000258792" "00023876" "10" "484" "-25" "484" "-4" "c.484-25_484-4del" "r.spl?" "p.?" "" "0000258792" "00025574" "10" "526" "-25" "526" "-4" "c.526-25_526-4del" "r.spl?" "p.?" "" "0000259517" "00023876" "30" "484" "-13" "484" "-13" "c.484-13del" "r.(=)" "p.(=)" "" "0000259517" "00025574" "30" "526" "-13" "526" "-13" "c.526-13del" "r.(=)" "p.(=)" "" "0000259518" "00023876" "30" "971" "0" "971" "0" "c.971A>T" "r.(?)" "p.(Gln324Leu)" "" "0000259518" "00025574" "30" "1013" "0" "1013" "0" "c.1013A>T" "r.(?)" "p.(Gln338Leu)" "" "0000261021" "00023876" "10" "-111" "16" "-111" "16" "c.-111+16G>T" "r.(=)" "p.(=)" "" "0000261021" "00025574" "10" "38" "16" "38" "16" "c.38+16G>T" "r.(=)" "p.(=)" "" "0000261022" "00023876" "10" "431" "0" "431" "0" "c.431C>A" "r.(?)" "p.(Ser144Tyr)" "" "0000261022" "00025574" "10" "473" "0" "473" "0" "c.473C>A" "r.(?)" "p.(Ser158Tyr)" "" "0000261023" "00023876" "10" "484" "-13" "484" "-13" "c.484-13G>T" "r.(=)" "p.(=)" "" "0000261023" "00025574" "10" "526" "-13" "526" "-13" "c.526-13G>T" "r.(=)" "p.(=)" "" "0000261024" "00023876" "10" "484" "-25" "484" "-4" "c.484-25_484-4del" "r.spl?" "p.?" "" "0000261024" "00025574" "10" "526" "-25" "526" "-4" "c.526-25_526-4del" "r.spl?" "p.?" "" "0000261025" "00023876" "30" "484" "-25" "484" "-5" "c.484-25_484-5del" "r.spl?" "p.?" "" "0000261025" "00025574" "30" "526" "-25" "526" "-5" "c.526-25_526-5del" "r.spl?" "p.?" "" "0000261026" "00023876" "10" "484" "-25" "484" "-25" "c.484-25G>T" "r.(=)" "p.(=)" "" "0000261026" "00025574" "10" "526" "-25" "526" "-25" "c.526-25G>T" "r.(=)" "p.(=)" "" "0000261027" "00023876" "90" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Gln187Ter)" "" "0000261027" "00025574" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Gln201Ter)" "" "0000261029" "00023876" "10" "875" "-60" "875" "-60" "c.875-60del" "r.(=)" "p.(=)" "" "0000261029" "00025574" "10" "917" "-60" "917" "-60" "c.917-60del" "r.(=)" "p.(=)" "" "0000261030" "00023876" "30" "918" "0" "918" "0" "c.918A>G" "r.(?)" "p.(Arg306=)" "" "0000261030" "00025574" "30" "960" "0" "960" "0" "c.960A>G" "r.(?)" "p.(Arg320=)" "" "0000261031" "00023876" "30" "971" "0" "971" "0" "c.971A>T" "r.(?)" "p.(Gln324Leu)" "" "0000261031" "00025574" "30" "1013" "0" "1013" "0" "c.1013A>T" "r.(?)" "p.(Gln338Leu)" "" "0000262728" "00023876" "50" "125" "0" "125" "0" "c.125G>T" "r.(?)" "p.(Arg42Leu)" "" "0000262728" "00025574" "50" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.(Arg56Leu)" "" "0000262729" "00023876" "50" "18" "0" "18" "0" "c.18G>T" "r.(?)" "p.(Trp6Cys)" "" "0000262729" "00025574" "50" "60" "0" "60" "0" "c.60G>T" "r.(?)" "p.(Trp20Cys)" "" "0000262730" "00023876" "30" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "" "0000262730" "00025574" "30" "253" "0" "253" "0" "c.253G>T" "r.(?)" "p.(Val85Phe)" "" "0000262731" "00023876" "30" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Glu78=)" "" "0000262731" "00025574" "30" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(Glu92=)" "" "0000262732" "00023876" "30" "318" "0" "318" "0" "c.318C>T" "r.(?)" "p.(Asn106=)" "" "0000262732" "00025574" "30" "360" "0" "360" "0" "c.360C>T" "r.(?)" "p.(Asn120=)" "" "0000262733" "00023876" "30" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13Gln)" "" "0000262733" "00025574" "30" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Arg27Gln)" "" "0000262734" "00023876" "10" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Lys153Glu)" "" "0000262734" "00025574" "10" "499" "0" "499" "0" "c.499A>G" "r.(?)" "p.(Lys167Glu)" "" "0000262735" "00023876" "10" "484" "-25" "484" "-5" "c.484-25_484-5del" "r.spl?" "p.?" "" "0000262735" "00025574" "10" "526" "-25" "526" "-5" "c.526-25_526-5del" "r.spl?" "p.?" "" "0000262736" "00023876" "10" "543" "30" "543" "30" "c.543+30A>C" "r.(=)" "p.(=)" "" "0000262736" "00025574" "10" "585" "30" "585" "30" "c.585+30A>C" "r.(=)" "p.(=)" "" "0000262737" "00023876" "90" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Gln187Ter)" "" "0000262737" "00025574" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Gln201Ter)" "" "0000262738" "00023876" "90" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Ala198Val)" "" "0000262738" "00025574" "90" "635" "0" "635" "0" "c.635C>T" "r.(?)" "p.(Ala212Val)" "" "0000262739" "00023876" "90" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199His)" "" "0000262739" "00025574" "90" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Arg213His)" "" "0000262740" "00023876" "50" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245His)" "" "0000262740" "00025574" "50" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Arg259His)" "" "0000262741" "00023876" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Ter)" "" "0000262741" "00025574" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000262743" "00023876" "90" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279Ter)" "" "0000262743" "00025574" "90" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Trp293Ter)" "" "0000262744" "00023876" "50" "847" "0" "847" "0" "c.847A>G" "r.(?)" "p.(Asn283Asp)" "" "0000262744" "00025574" "50" "889" "0" "889" "0" "c.889A>G" "r.(?)" "p.(Asn297Asp)" "" "0000262745" "00023876" "10" "971" "0" "971" "0" "c.971A>T" "r.(?)" "p.(Gln324Leu)" "" "0000262745" "00025574" "10" "1013" "0" "1013" "0" "c.1013A>T" "r.(?)" "p.(Gln338Leu)" "" "0000332593" "00023876" "50" "484" "-25" "484" "-6" "c.484-25_484-6del" "r.(=)" "p.(=)" "" "0000332593" "00025574" "50" "526" "-25" "526" "-6" "c.526-25_526-6del" "r.(=)" "p.(=)" "" "0000337794" "00023876" "30" "484" "-13" "484" "-13" "c.484-13G>T" "r.(=)" "p.(=)" "" "0000337794" "00025574" "30" "526" "-13" "526" "-13" "c.526-13G>T" "r.(=)" "p.(=)" "" "0000439728" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441111" "00023876" "33" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Lys153Glu)" "5" "0000441112" "00023876" "99" "589" "0" "589" "0" "c.589A>C" "r.(?)" "p.(Lys197Gln)" "7" "0000441113" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441114" "00023876" "99" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Ala198Val)" "7" "0000441115" "00023876" "99" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199His)" "7" "0000441116" "00023876" "11" "484" "-25" "484" "-6" "c.484-25_484-6del" "r.(?)" "p.(=)" "5i" "0000441117" "00023876" "11" "771" "-12" "771" "-12" "c.771-12del" "r.(?)" "p.(=)" "7i" "0000441118" "00023876" "99" "602" "0" "602" "0" "c.602A>G" "r.(?)" "p.(His201Arg)" "7" "0000441119" "00023876" "99" "603" "0" "603" "0" "c.603T>A" "r.(?)" "p.(His201Gln)" "7" "0000441120" "00023876" "99" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Pro206Leu)" "7" "0000441121" "00023876" "99" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Pro206Leu)" "7" "0000441122" "00023876" "99" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Leu223Pro)" "7" "0000441123" "00023876" "95" "683" "0" "683" "0" "c.683A>G" "r.(?)" "p.(His228Arg)" "7" "0000441124" "00023876" "99" "689" "0" "689" "0" "c.689dup" "r.(?)" "p.(Glu232Glyfs*38)" "7" "0000441125" "00023876" "99" "689" "0" "689" "0" "c.689dup" "r.(?)" "p.(Glu232Glyfs*38)" "7" "0000441126" "00023876" "99" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Pro206Leu)" "7" "0000441127" "00023876" "99" "689" "0" "689" "0" "c.689dup" "r.(?)" "p.(Glu232Glyfs*38)" "7" "0000441128" "00023876" "99" "689" "0" "689" "0" "c.689T>G" "r.(?)" "p.(Val230Gly)" "7" "0000441129" "00023876" "99" "689" "0" "689" "0" "c.689dup" "r.(?)" "p.(Glu232Glyfs*38)" "7" "0000441130" "00023876" "99" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Gly231Glu)" "7" "0000441131" "00023876" "95" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Ser242Asn)" "7" "0000441132" "00023876" "99" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247*)" "7" "0000441133" "00023876" "55" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Leu261Phe)" "8" "0000441134" "00023876" "99" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Pro206Leu)" "7" "0000441135" "00023876" "99" "788" "0" "788" "0" "c.788T>G" "r.(?)" "p.(Val263Gly)" "8" "0000441136" "00023876" "95" "800" "0" "800" "0" "c.800A>G" "r.(?)" "p.(Asp267Gly)" "8" "0000441137" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441138" "00023876" "95" "800" "0" "800" "0" "c.800A>G" "r.(?)" "p.(Asp267Gly)" "8" "0000441139" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441140" "00023876" "99" "770" "1" "770" "1" "c.770+1G>A" "r.(?)" "p.?" "7" "0000441141" "00023876" "99" "835" "0" "835" "0" "c.835T>C" "r.(?)" "p.(Trp279Arg)" "8" "0000441142" "00023876" "99" "770" "1" "770" "1" "c.770+1G>A" "r.(?)" "p.?" "7" "0000441143" "00023876" "99" "835" "0" "835" "0" "c.835T>C" "r.(?)" "p.(Trp279Arg)" "8" "0000441144" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441145" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441146" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441147" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441148" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441149" "00023876" "99" "689" "0" "689" "0" "c.689dup" "r.(?)" "p.(Glu232Glyfs*38)" "7" "0000441150" "00023876" "99" "841" "0" "841" "0" "c.841del" "r.(?)" "p.(Ser281Leufs*8)" "8" "0000441151" "00023876" "99" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Gln298*)" "9" "0000441152" "00023876" "99" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306*)" "9" "0000441153" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441154" "00023876" "99" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306*)" "9" "0000441155" "00023876" "99" "477" "0" "477" "0" "c.477del" "r.(?)" "p.(Lys161Argfs*11)" "5" "0000441156" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441157" "00023876" "99" "541" "0" "541" "0" "c.541C>T" "r.(?)" "p.(Gln181*)" "6" "0000441158" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441159" "00023876" "99" "601" "0" "601" "0" "c.601del" "r.(?)" "p.(His201Ilefs*13)" "7" "0000441160" "00023876" "99" "0" "0" "0" "0" "c.0" "r.0?" "p.0?" "_1_9_" "0000441161" "00023876" "11" "971" "0" "971" "0" "c.971A>T" "r.(?)" "p.(Gln324Leu)" "9" "0000441162" "00023876" "11" "484" "-25" "484" "-5" "c.484-25_484-5del" "r.(?)" "p.?" "5i" "0000441163" "00023876" "11" "771" "-12" "771" "-12" "c.771-12dup" "r.(?)" "p.(=)" "7i" "0000441164" "00023876" "11" "543" "30" "543" "30" "c.543+30A>C" "r.(?)" "p.(=)" "6i" "0000441165" "00023876" "33" "431" "0" "431" "0" "c.431C>A" "r.(?)" "p.(Ser144Tyr)" "5" "0000441166" "00023876" "33" "431" "0" "431" "0" "c.431C>A" "r.(?)" "p.(Ser144Tyr)" "5" "0000441167" "00023876" "33" "431" "0" "431" "0" "c.431C>A" "r.(?)" "p.(Ser144Tyr)" "5" "0000441168" "00023876" "33" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "5" "0000441169" "00023876" "55" "742" "0" "742" "0" "c.742T>A" "r.(?)" "p.(Leu248Met)" "7" "0000441170" "00023876" "55" "742" "0" "742" "0" "c.742T>A" "r.(?)" "p.(Leu248Met)" "7" "0000441171" "00023876" "99" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Gln187*)" "7" "0000441172" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441173" "00023876" "99" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Gln187*)" "7" "0000441174" "00023876" "99" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199His)" "7" "0000441175" "00023876" "99" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247*)" "7" "0000441176" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441177" "00023876" "55" "847" "0" "847" "0" "c.847A>G" "r.(?)" "p.(Asn283Asp)" "8" "0000441178" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "0000441179" "00023876" "99" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Ala198Val)" "7" "0000441180" "00023876" "99" "5" "1225" "1921" "0" "c.5+1225_(*892_?)del" "r.?" "p.0?" "2i_9_" "0000441181" "00023876" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_9_" "0000441182" "00023876" "99" "940" "0" "956" "0" "c.940_956del" "r.(?)" "p.(Lys314Serfs*2)" "9" "0000441183" "00023876" "33" "318" "0" "318" "0" "c.318C>T" "r.(?)" "p.(=)" "5" "0000441184" "00023876" "33" "18" "0" "18" "0" "c.18G>T" "r.(?)" "p.(Trp6Cys)" "3" "0000441185" "00023876" "55" "203" "0" "203" "0" "c.203T>C" "r.(?)" "p.(Ile68Thr)" "5" "0000441186" "00023876" "90" "875" "-1" "875" "-1" "c.875-1G>A" "r.spl" "p.?" "8i" "0000441187" "00023876" "90" "875" "-1" "875" "-1" "c.875-1G>A" "r.spl" "p.?" "8i" "0000537953" "00023876" "90" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279Ter)" "" "0000537953" "00025574" "90" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Trp293Ter)" "" "0000537954" "00023876" "10" "771" "-13" "771" "-12" "c.771-13_771-12dup" "r.(=)" "p.(=)" "" "0000537954" "00025574" "10" "813" "-13" "813" "-12" "c.813-13_813-12dup" "r.(=)" "p.(=)" "" "0000537956" "00023876" "10" "771" "-12" "771" "-12" "c.771-12dup" "r.(=)" "p.(=)" "" "0000537956" "00025574" "10" "813" "-12" "813" "-12" "c.813-12dup" "r.(=)" "p.(=)" "" "0000537957" "00023876" "10" "771" "-12" "771" "-12" "c.771-12dup" "r.(=)" "p.(=)" "" "0000537957" "00025574" "10" "813" "-12" "813" "-12" "c.813-12dup" "r.(=)" "p.(=)" "" "0000537959" "00023876" "50" "762" "0" "762" "0" "c.762G>A" "r.(?)" "p.(Pro254=)" "" "0000537959" "00025574" "50" "804" "0" "804" "0" "c.804G>A" "r.(?)" "p.(Pro268=)" "" "0000537960" "00023876" "30" "484" "-3" "484" "-3" "c.484-3T>C" "r.spl?" "p.?" "" "0000537960" "00025574" "30" "526" "-3" "526" "-3" "c.526-3T>C" "r.spl?" "p.?" "" "0000537961" "00023876" "30" "484" "-12" "484" "-11" "c.484-12_484-11insG" "r.(=)" "p.(=)" "" "0000537961" "00025574" "30" "526" "-12" "526" "-11" "c.526-12_526-11insG" "r.(=)" "p.(=)" "" "0000537962" "00023876" "10" "484" "-12" "484" "-11" "c.484-12_484-11insG" "r.(=)" "p.(=)" "" "0000537962" "00025574" "10" "526" "-12" "526" "-11" "c.526-12_526-11insG" "r.(=)" "p.(=)" "" "0000537966" "00023876" "10" "484" "-21" "484" "-20" "c.484-21_484-20insGT" "r.(=)" "p.(=)" "" "0000537966" "00025574" "10" "526" "-21" "526" "-20" "c.526-21_526-20insGT" "r.(=)" "p.(=)" "" "0000537967" "00023876" "10" "431" "0" "431" "0" "c.431C>A" "r.(?)" "p.(Ser144Tyr)" "" "0000537967" "00025574" "10" "473" "0" "473" "0" "c.473C>A" "r.(?)" "p.(Ser158Tyr)" "" "0000537968" "00023876" "10" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(Arg126=)" "" "0000537968" "00025574" "10" "420" "0" "420" "0" "c.420G>A" "r.(?)" "p.(Arg140=)" "" "0000537969" "00023876" "30" "347" "0" "347" "0" "c.347A>G" "r.(?)" "p.(Lys116Arg)" "" "0000537969" "00025574" "30" "389" "0" "389" "0" "c.389A>G" "r.(?)" "p.(Lys130Arg)" "" "0000537970" "00023876" "10" "318" "0" "318" "0" "c.318C>T" "r.(?)" "p.(Asn106=)" "" "0000537970" "00025574" "10" "360" "0" "360" "0" "c.360C>T" "r.(?)" "p.(Asn120=)" "" "0000537971" "00023876" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000537971" "00025574" "50" "43" "0" "43" "0" "c.43A>G" "r.(?)" "p.(Met15Val)" "" "0000537972" "00023876" "30" "-4" "-15" "-4" "-15" "c.-4-15T>C" "r.(=)" "p.(=)" "" "0000537972" "00025574" "30" "39" "-15" "39" "-15" "c.39-15T>C" "r.(=)" "p.(=)" "" "0000612078" "00023876" "50" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Gln169Ter)" "" "0000612078" "00025574" "50" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Gln183Ter)" "" "0000612079" "00023876" "50" "493" "0" "493" "0" "c.493G>T" "r.(?)" "p.(Gly165Cys)" "" "0000612079" "00025574" "50" "535" "0" "535" "0" "c.535G>T" "r.(?)" "p.(Gly179Cys)" "" "0000653364" "00023876" "73" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247*)" "7" "0000656343" "00023876" "30" "847" "0" "847" "0" "c.847A>G" "r.(?)" "p.(Asn283Asp)" "" "0000656343" "00025574" "30" "889" "0" "889" "0" "c.889A>G" "r.(?)" "p.(Asn297Asp)" "" "0000701831" "00023876" "70" "596" "0" "596" "0" "c.596del" "r.(?)" "p.(Arg199Leufs*15)" "" "0000701831" "00025574" "70" "638" "0" "638" "0" "c.638del" "r.(?)" "p.(Arg213Leufs*15)" "" "0000715041" "00023876" "90" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(Arg42Ter)" "" "0000786738" "00023876" "70" "596" "0" "596" "0" "c.596delG" "r.(?)" "p.(Arg199LeufsTer15)" "7" "0000786739" "00023876" "70" "596" "0" "596" "0" "c.596delG" "r.(?)" "p.(Arg199LeufsTer15)" "7" "0000786740" "00023876" "70" "596" "0" "596" "0" "c.596delG" "r.(?)" "p.(Arg199LeufsTer15)" "7" "0000786741" "00023876" "70" "875" "-2" "875" "-2" "c.875-2A>G" "r.spl" "p.?" "8i" "0000804095" "00023876" "30" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Ile329Val)" "" "0000804095" "00025574" "30" "1027" "0" "1027" "0" "c.1027A>G" "r.(?)" "p.(Ile343Val)" "" "0000804096" "00023876" "90" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279Ter)" "" "0000804096" "00025574" "90" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Trp293Ter)" "" "0000831077" "00025574" "99" "887" "0" "887" "0" "c.887del" "r.(887del)" "p.(Phe296Serfs*7)" "7" "0000841450" "00023876" "99" "845" "0" "845" "0" "c.845delT" "r.(?)" "p.(Phe282Serfs*7)" "7" "0000841450" "00025574" "99" "887" "0" "887" "0" "c.887delT" "r.(?)" "p.(Phe296Serfs*7)" "7" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 90 "{{screeningid}}" "{{variantid}}" "0000000006" "0000001269" "0000034836" "0000061955" "0000034837" "0000061956" "0000209575" "0000439728" "0000209976" "0000441111" "0000209977" "0000441112" "0000209977" "0000441113" "0000209978" "0000441114" "0000209979" "0000441115" "0000209979" "0000441116" "0000209979" "0000441117" "0000209980" "0000441118" "0000209981" "0000441119" "0000209982" "0000441120" "0000209983" "0000441121" "0000209984" "0000441122" "0000209985" "0000441123" "0000209986" "0000441124" "0000209987" "0000441125" "0000209988" "0000441126" "0000209988" "0000441127" "0000209989" "0000441128" "0000209990" "0000441129" "0000209990" "0000441130" "0000209991" "0000441131" "0000209992" "0000441132" "0000209993" "0000441133" "0000209994" "0000441134" "0000209994" "0000441135" "0000209995" "0000441136" "0000209995" "0000441137" "0000209996" "0000441138" "0000209996" "0000441139" "0000209997" "0000441140" "0000209997" "0000441141" "0000209998" "0000441142" "0000209998" "0000441143" "0000209999" "0000441144" "0000210000" "0000441145" "0000210001" "0000441146" "0000210002" "0000441147" "0000210003" "0000441148" "0000210004" "0000441149" "0000210004" "0000441150" "0000210005" "0000441151" "0000210006" "0000441152" "0000210007" "0000441153" "0000210007" "0000441154" "0000210008" "0000441155" "0000210008" "0000441156" "0000210009" "0000441157" "0000210009" "0000441158" "0000210010" "0000441159" "0000210011" "0000441160" "0000210012" "0000441161" "0000210013" "0000441162" "0000210014" "0000441163" "0000210015" "0000441164" "0000210016" "0000441165" "0000210017" "0000441166" "0000210018" "0000441167" "0000210019" "0000441168" "0000210020" "0000441169" "0000210021" "0000441170" "0000210022" "0000441171" "0000210022" "0000441172" "0000210023" "0000441173" "0000210024" "0000441174" "0000210025" "0000441175" "0000210026" "0000441176" "0000210026" "0000441177" "0000210027" "0000441178" "0000210028" "0000441179" "0000210029" "0000441180" "0000210030" "0000441181" "0000210031" "0000441182" "0000210032" "0000441183" "0000210033" "0000441184" "0000210034" "0000441185" "0000210035" "0000441186" "0000210036" "0000441187" "0000296672" "0000653364" "0000319167" "0000701831" "0000330445" "0000715041" "0000375387" "0000786738" "0000375388" "0000786739" "0000375389" "0000786740" "0000375390" "0000786741" "0000398817" "0000831077" "0000405362" "0000841450"