### LOVD-version 3000-220 ### 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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" "Orphanet " "1" "1" "15984" "54840" "606350" "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" "00001" "2019-12-04 15:26:50" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00023876" "APTX" "transcript variant 1" "007" "NM_175073.2" "" "NP_778243.1" "" "" "" "-185" "1921" "1029" "33001639" "32972604" "00008" "2013-11-25 17:59:23" "" "" ## 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)" "" "208920" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-11-25 10:57:58" "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 = 65 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 62 "{{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" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01672, 05519 ## Count = 63 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Development/Speech/Delayed}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{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" "" ## Screenings ## Do not remove or alter this header ## ## Count = 65 "{{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" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 71 "{{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" ## 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 = 147 "{{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}}" "0000001269" "0" "50" "9" "32984803" "32984803" "subst" "0.00615101" "00002" "APTX_000006" "g.32984803C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32984805C>T" "" "0000061955" "1" "50" "9" "32988188" "32988188" "subst" "0" "01164" "APTX_000051" "g.32988188T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32988190T>C" "" "0000061956" "1" "90" "9" "32974493" "32974493" "subst" "0.000230663" "01164" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32974495C>T" "" "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" "" "" "" "" "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" "" "" "" "" "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" "" "" "" "" "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" "" "" "" "" "0000251907" "0" "30" "9" "32984668" "32984668" "subst" "0" "02333" "APTX_000061" "g.32984668A>G" "" "" "" "APTX(NM_001195249.1):c.731T>C (p.L244P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "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" "" "" "" "" "0000256110" "0" "50" "9" "32987822" "32987822" "subst" "0" "02333" "APTX_000083" "g.32987822A>G" "" "" "" "APTX(NM_175073.2):c.203T>C (p.I68T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000256236" "0" "50" "9" "32984657" "32984657" "subst" "0.00161464" "02333" "APTX_000058" "g.32984657A>T" "" "" "" "APTX(NM_001195249.1):c.742T>A (p.L248M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000258271" "0" "30" "9" "32986041" "32986041" "subst" "0" "02330" "APTX_000070" "g.32986041C>A" "" "" "" "APTX(NM_001195249.1):c.484-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000258272" "0" "30" "9" "32986041" "32986062" "del" "0" "02330" "APTX_000071" "g.32986041_32986062del" "" "" "" "APTX(NM_001195249.1):c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000258273" "0" "30" "9" "32986041" "32986061" "del" "0" "02330" "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" "" "" "" "" "0000258792" "0" "10" "9" "32986041" "32986062" "del" "0" "02325" "APTX_000071" "g.32986041_32986062del" "" "" "" "APTX(NM_001195249.1):c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000259517" "0" "30" "9" "32986041" "32986041" "del" "0" "02333" "APTX_000076" "g.32986041del" "" "" "" "APTX(NM_001195249.1):c.484-25_484-13delGTTTTTTTTTTTGinsGTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000259518" "0" "30" "9" "32973554" "32973554" "subst" "0.00176841" "02325" "APTX_000052" "g.32973554T>A" "" "" "" "APTX(NM_001195249.1):c.971A>T (p.Q324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000261021" "0" "10" "9" "33001549" "33001549" "subst" "0.00630478" "02333" "APTX_000068" "g.33001549C>A" "" "" "" "APTX(NR_036579.1):n.26G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000261022" "0" "10" "9" "32987594" "32987594" "subst" "0.00584346" "02326" "APTX_000079" "g.32987594G>T" "" "" "" "APTX(NM_001195249.1):c.431C>A (p.S144Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "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" "" "" "" "" "0000261024" "0" "10" "9" "32986041" "32986062" "del" "0" "02326" "APTX_000071" "g.32986041_32986062del" "" "" "" "APTX(NM_001195249.1):c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "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" "" "" "" "" "0000261026" "0" "10" "9" "32986053" "32986053" "subst" "0" "02333" "APTX_000077" "g.32986053C>A" "" "" "" "APTX(NM_001195249.1):c.484-25G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000261027" "0" "90" "9" "32984840" "32984840" "subst" "0" "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" "" "" "" "" "0000261029" "0" "10" "9" "32973727" "32973727" "del" "0" "02333" "APTX_000054" "g.32973727del" "" "" "" "APTX(NM_001195249.1):c.875-60delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000261030" "0" "30" "9" "32973607" "32973607" "subst" "0" "02333" "APTX_000053" "g.32973607T>C" "" "" "" "APTX(NM_001195249.1):c.918A>G (p.R306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000261031" "0" "30" "9" "32973554" "32973554" "subst" "0.00176841" "02326" "APTX_000052" "g.32973554T>A" "" "" "" "APTX(NM_001195249.1):c.971A>T (p.Q324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000262728" "0" "50" "9" "32989765" "32989765" "subst" "0" "02333" "APTX_000084" "g.32989765C>A" "" "" "" "APTX(NM_175073.2):c.125G>T (p.R42L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000262729" "0" "50" "9" "32989872" "32989872" "subst" "0" "02333" "APTX_000067" "g.32989872C>A" "" "" "" "APTX(NM_175073.2):c.18G>T (p.W6C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000262730" "0" "30" "9" "32987814" "32987814" "subst" "0" "02333" "APTX_000082" "g.32987814C>A" "" "" "" "APTX(NM_175073.2):c.211G>T (p.V71F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000262731" "0" "30" "9" "32987791" "32987791" "subst" "0" "02333" "APTX_000081" "g.32987791C>T" "" "" "" "APTX(NM_001195249.1):c.234G>A (p.E78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000262732" "0" "30" "9" "32987707" "32987707" "subst" "0.0101492" "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" "" "" "" "" "0000262733" "0" "30" "9" "32989852" "32989852" "subst" "0.0000768876" "02333" "APTX_000066" "g.32989852C>T" "" "" "" "APTX(NM_001195249.1):c.38G>A (p.R13Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000262734" "0" "10" "9" "32987568" "32987568" "subst" "0.00322928" "02333" "APTX_000078" "g.32987568T>C" "" "" "" "APTX(NM_001195249.1):c.457A>G (p.K153E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "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" "" "" "" "" "0000262736" "0" "10" "9" "32985939" "32985939" "subst" "0.0830386" "02333" "APTX_000064" "g.32985939T>G" "" "" "" "APTX(NM_175073.2):c.543+30A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000262737" "0" "90" "9" "32984840" "32984840" "subst" "0" "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" "" "" "" "" "0000262738" "0" "90" "9" "32984806" "32984806" "subst" "0" "02333" "APTX_000062" "g.32984806G>A" "" "" "" "APTX(NM_175073.2):c.593C>T (p.A198V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000262739" "0" "90" "9" "32984803" "32984803" "subst" "0.00615101" "02333" "APTX_000006" "g.32984803C>T" "" "" "" "APTX(NM_001195249.1):c.596G>A (p.R199H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000262740" "0" "50" "9" "32984665" "32984665" "subst" "0" "02333" "APTX_000060" "g.32984665C>T" "" "" "" "APTX(NM_175073.2):c.734G>A (p.R245H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000262741" "0" "90" "9" "32984660" "32984660" "subst" "0" "02333" "APTX_000059" "g.32984660G>A" "" "" "" "APTX(NM_001195249.1):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000262743" "0" "90" "9" "32974493" "32974493" "subst" "0.000230663" "01943" "APTX_000004" "g.32974493C>T" "" "" "" "APTX(NM_175073.2):c.837G>A (p.W279*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000262744" "0" "50" "9" "32974483" "32974483" "subst" "0" "02333" "APTX_000055" "g.32974483T>C" "" "" "" "APTX(NM_175073.2):c.847A>G (p.N283D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000262745" "0" "10" "9" "32973554" "32973554" "subst" "0.00176841" "01943" "APTX_000052" "g.32973554T>A" "" "" "" "APTX(NM_001195249.1):c.971A>T (p.Q324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000332593" "0" "50" "9" "32986041" "32986060" "del" "0" "02333" "APTX_000027" "g.32986041_32986060del" "" "" "" "APTX(NM_001195248.1):c.526-25_526-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "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" "" "" "" "" "0000439728" "3" "99" "9" "32974493" "32974493" "subst" "0.000230663" "01164" "APTX_000004" "g.32974493C>T" "" "" "" "" "ACMG grading: PM2,PM3,PVS1,PP5" "Germline" "" "rs104894103" "0" "" "" "" "" "0000441111" "0" "33" "9" "32987568" "32987568" "subst" "0.00322928" "00547" "APTX_000001" "g.32987568T>C" "" "{PMID:Baba 2007:17049295}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441112" "0" "99" "9" "32984810" "32984810" "subst" "0" "00547" "APTX_000003" "g.32984810T>G" "" "{PMID:Tranchant 2003:12629250}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441113" "0" "99" "9" "32974493" "32974493" "subst" "0.000230663" "00547" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441114" "3" "99" "9" "32984806" "32984806" "subst" "0" "00547" "APTX_000005" "g.32984806G>A" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441115" "11" "99" "9" "32984803" "32984803" "subst" "0.00615101" "00547" "APTX_000006" "g.32984803C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "no maternal variant identified" "Germline" "" "" "0" "" "" "" "" "0000441116" "21" "11" "9" "32986034" "32986053" "del" "0" "01833" "APTX_000027" "g.32986034_32986053del" "" "{PMID:Moreira 2001:11586300}" "" "484-31_484-12del20" "" "Germline" "" "" "0" "" "" "" "" "0000441117" "21" "11" "9" "32974571" "32974571" "del" "0" "01833" "APTX_000028" "g.32974571del" "" "{PMID:Moreira 2001:11586300}" "" "771-11delT" "" "Germline" "" "" "0" "" "" "" "" "0000441118" "3" "99" "9" "32984797" "32984797" "subst" "0" "00547" "APTX_000007" "g.32984797T>C" "" "{PMID:Shimazaki 2002:12196655}" "" "nt 80 (A>G)" "" "Germline" "" "" "0" "" "" "" "" "0000441119" "3" "99" "9" "32984796" "32984796" "subst" "0" "00547" "APTX_000008" "g.32984796A>T" "" "{PMID:Criscuolo 2004:15596775}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441120" "3" "99" "9" "32984782" "32984782" "subst" "0" "00547" "APTX_000009" "g.32984782G>A" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441121" "3" "99" "9" "32984782" "32984782" "subst" "0" "00547" "APTX_000009" "g.32984782G>A" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441122" "3" "99" "9" "32984731" "32984731" "subst" "0" "00547" "APTX_000010" "g.32984731A>G" "" "{PMID:Criscuolo 2005:15852392}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441123" "0" "95" "9" "32984716" "32984716" "subst" "0" "00547" "APTX_000011" "g.32984716T>C" "" "{PMID:Fogel 2006:17159128}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441124" "3" "99" "9" "32984710" "32984710" "dup" "0" "00547" "APTX_000012" "g.32984710dup" "" "{PMID:Moreira 2001:11586300}" "" "689insT" "" "Germline" "" "" "0" "" "" "" "" "0000441125" "3" "99" "9" "32984710" "32984710" "dup" "0" "00547" "APTX_000012" "g.32984710dup" "" "{PMID:Moreira 2001:11586300}" "" "690insT" "" "Germline" "" "" "0" "" "" "" "" "0000441126" "1" "99" "9" "32984782" "32984782" "subst" "0" "00547" "APTX_000009" "g.32984782G>A" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441127" "2" "99" "9" "32984710" "32984710" "dup" "0" "00547" "APTX_000012" "g.32984710dup" "" "{PMID:Moreira 2001:11586300}" "" "690insT" "" "Germline" "" "" "0" "" "" "" "" "0000441128" "3" "99" "9" "32984710" "32984710" "subst" "0" "00547" "APTX_000013" "g.32984710A>C" "" "{PMID:Ferrarini 2007:17572444}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441129" "0" "99" "9" "32984710" "32984710" "dup" "0" "00547" "APTX_000012" "g.32984710dup" "" "" "" "690insT" "" "Germline" "" "" "0" "" "" "" "" "0000441130" "0" "99" "9" "32984707" "32984707" "subst" "0" "00547" "APTX_000014" "g.32984707C>T" "" "{PMID:Ito 2005:15876520}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441131" "0" "95" "9" "32984674" "32984674" "subst" "0" "00547" "APTX_000015" "g.32984674C>T" "" "{PMID:Baba 2007:17049295}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441132" "3" "99" "9" "32984660" "32984660" "subst" "0" "00547" "APTX_000016" "g.32984660G>A" "" "{PMID:Mosesso 2005:15719174}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441133" "3" "55" "9" "32974549" "32974549" "subst" "0" "00547" "APTX_000017" "g.32974549G>A" "" "{PMID:H\'mida-Ben Brahim 2011:20798953}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441134" "0" "99" "9" "32984782" "32984782" "subst" "0" "00547" "APTX_000009" "g.32984782G>A" "" "{PMID:Date 2001:11586299}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441135" "0" "99" "9" "32974542" "32974542" "subst" "0" "00547" "APTX_000018" "g.32974542A>C" "" "{PMID:Date 2001:11586299}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441136" "0" "95" "9" "32974530" "32974530" "subst" "0" "00547" "APTX_000019" "g.32974530T>C" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441137" "3" "99" "9" "32974493" "32974493" "subst" "0.000230663" "00547" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441138" "0" "95" "9" "32974530" "32974530" "subst" "0" "00547" "APTX_000019" "g.32974530T>C" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441139" "3" "99" "9" "32974493" "32974493" "subst" "0.000230663" "00547" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441140" "0" "99" "9" "32984628" "32984628" "subst" "0" "00547" "APTX_000020" "g.32984628C>T" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441141" "0" "99" "9" "32974495" "32974495" "subst" "0" "00547" "APTX_000021" "g.32974495A>G" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441142" "0" "99" "9" "32984628" "32984628" "subst" "0" "00547" "APTX_000020" "g.32984628C>T" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441143" "0" "99" "9" "32974495" "32974495" "subst" "0" "00547" "APTX_000021" "g.32974495A>G" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441144" "3" "99" "9" "32974493" "32974493" "subst" "0.000230663" "00547" "APTX_000004" "g.32974493C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441145" "3" "99" "9" "32974493" "32974493" "subst" "0.000230663" "00547" "APTX_000004" "g.32974493C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441146" "3" "99" "9" "32974493" "32974493" "subst" "0.000230663" "00547" "APTX_000004" "g.32974493C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441147" "3" "99" "9" "32974493" "32974493" "subst" "0.000230663" "00547" "APTX_000004" "g.32974493C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441148" "3" "99" "9" "32974493" "32974493" "subst" "0.000230663" "00547" "APTX_000004" "g.32974493C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441149" "0" "99" "9" "32984710" "32984710" "dup" "0" "00547" "APTX_000012" "g.32984710dup" "" "{PMID:Date 2001:11586299}" "" "689dupT" "" "Germline" "" "" "0" "" "" "" "" "0000441150" "0" "99" "9" "32974489" "32974489" "del" "0" "00547" "APTX_000022" "g.32974489del" "" "{PMID:Date 2001:11586299}, {PMID:Seidle et al 2005:15790557}" "" "840delT" "" "Germline" "" "" "0" "" "" "" "" "0000441151" "3" "99" "9" "32973633" "32973633" "subst" "0" "00547" "APTX_000023" "g.32973633G>A" "" "{PMID:Crimella 2011:21412945}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441152" "3" "99" "9" "32973609" "32973609" "subst" "0" "00547" "APTX_000024" "g.32973609G>A" "" "{PMID:Castellotti 2011:21465257}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441153" "0" "99" "9" "32974493" "32974493" "subst" "0.000230663" "00547" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441154" "0" "99" "9" "32973609" "32973609" "subst" "0" "00547" "APTX_000024" "g.32973609G>A" "" "{PMID:Castellotti 2011:21465257}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441155" "1" "99" "9" "32987548" "32987548" "del" "0" "00547" "APTX_000025" "g.32987548del" "" "{PMID:Castellotti 2011:21465257}" "" "477delC" "" "Germline" "" "" "0" "" "" "" "" "0000441156" "0" "99" "9" "32974493" "32974493" "subst" "0.000230663" "00547" "APTX_000004" "g.32974493C>T" "" "{PMID:Moreira 2001:11586300}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441157" "0" "99" "9" "32985971" "32985971" "subst" "0" "00547" "APTX_000026" "g.32985971G>A" "" "{PMID:Castellotti 2011:21465257}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441158" "0" "99" "9" "32974493" "32974493" "subst" "0.000230663" "00547" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441159" "3" "99" "9" "32984798" "32984798" "del" "0" "01833" "APTX_000029" "g.32984798del" "" "{PMID:Nouri et al 2012:23183622}" "" "643delC" "" "Germline" "" "" "0" "" "" "" "" "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" "" "" "" "" "0000441161" "0" "11" "9" "32973554" "32973554" "subst" "0.00176841" "01833" "APTX_000031" "g.32973554T>A" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441162" "0" "11" "9" "32986033" "32986053" "del" "0" "01833" "APTX_000032" "g.32986033_32986053del" "" "" "" "484-25_484-5del21" "delGTTTTTTTTTTTGTTTTTTTT" "Germline" "" "" "0" "" "" "" "" "0000441163" "0" "11" "9" "32974571" "32974571" "dup" "0" "01833" "APTX_000033" "g.32974571dup" "" "" "" "771-12dupT" "" "Germline" "" "" "0" "" "" "" "" "0000441164" "0" "11" "9" "32985939" "32985939" "subst" "0.0830386" "01833" "APTX_000034" "g.32985939T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441165" "0" "33" "9" "32987594" "32987594" "subst" "0.00584346" "01833" "APTX_000035" "g.32987594G>T" "" "" "" "" "probably not pathogenic" "Germline" "" "" "0" "" "" "" "" "0000441166" "0" "33" "9" "32987594" "32987594" "subst" "0.00584346" "01833" "APTX_000035" "g.32987594G>T" "" "" "" "" "probably not pathogenic" "Germline" "" "" "0" "" "" "" "" "0000441167" "0" "33" "9" "32987594" "32987594" "subst" "0.00584346" "01833" "APTX_000035" "g.32987594G>T" "" "van Minkelen et al. In preparation" "" "" "probably not pathogenic" "Germline" "" "" "0" "" "" "" "" "0000441168" "0" "33" "9" "32987814" "32987814" "subst" "0" "01833" "APTX_000036" "g.32987814C>A" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441169" "0" "55" "9" "32984657" "32984657" "subst" "0.00161464" "01833" "APTX_000037" "g.32984657A>T" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441170" "0" "55" "9" "32984657" "32984657" "subst" "0.00161464" "01833" "APTX_000037" "g.32984657A>T" "" "van Minkelen et al. In preparation" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441171" "0" "99" "9" "32984840" "32984840" "subst" "0" "01833" "APTX_000038" "g.32984840G>A" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441172" "0" "99" "9" "32974493" "32974493" "subst" "0.000230663" "01833" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441173" "0" "99" "9" "32984840" "32984840" "subst" "0" "01833" "APTX_000038" "g.32984840G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441174" "0" "99" "9" "32984803" "32984803" "subst" "0.00615101" "01833" "APTX_000006" "g.32984803C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441175" "3" "99" "9" "32984660" "32984660" "subst" "0" "01833" "APTX_000016" "g.32984660G>A" "" "{PMID:Mosesso 2005:15719174}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441176" "0" "99" "9" "32974493" "32974493" "subst" "0.000230663" "01833" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441177" "0" "55" "9" "32974483" "32974483" "subst" "0" "01833" "APTX_000039" "g.32974483T>C" "" "{PMID:Avan Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441178" "3" "99" "9" "32974493" "32974493" "subst" "0.000230663" "01833" "APTX_000004" "g.32974493C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441179" "3" "99" "9" "32984806" "32984806" "subst" "0" "01833" "APTX_000005" "g.32984806G>A" "" "{PMID:Le Ber 2003:14506070}" "" "" "" "Germline" "" "" "0" "" "" "" "" "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" "" "" "" "" "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" "" "" "" "" "0000441182" "3" "99" "9" "32973569" "32973585" "del" "0" "01833" "APTX_000043" "g.32973569_32973585del" "" "{PMID:Avan Minkelen 2015:26285866}" "" "940_956del17" "" "Germline" "" "" "0" "" "" "" "" "0000441183" "0" "33" "9" "32987707" "32987707" "subst" "0.0101492" "01833" "APTX_000044" "g.32987707G>A" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441184" "0" "33" "9" "32989872" "32989872" "subst" "0" "01833" "APTX_000045" "g.32989872C>A" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441185" "0" "55" "9" "32987822" "32987822" "subst" "0" "01833" "APTX_000046" "g.32987822A>G" "" "{PMID:van Minkelen 2015:26285866}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000441186" "3" "90" "9" "32973651" "32973651" "subst" "0" "00006" "APTX_000085" "g.32973651C>T" "" "{PMID:Amouri 2004:15365154}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "0000441187" "3" "90" "9" "32973651" "32973651" "subst" "0" "00006" "APTX_000085" "g.32973651C>T" "" "{PMID:Amouri 2004:15365154}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "0000537953" "0" "90" "9" "32974493" "32974493" "subst" "0.000230663" "02327" "APTX_000004" "g.32974493C>T" "" "" "" "APTX(NM_175073.2):c.837G>A (p.W279*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537954" "0" "10" "9" "32974578" "32974579" "dup" "0" "02333" "APTX_000086" "g.32974578_32974579dup" "" "" "" "APTX(NM_001195249.1):c.771-13_771-12dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537955" "0" "30" "9" "32974579" "32974579" "dup" "0" "02330" "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" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "0000537959" "0" "50" "9" "32984637" "32984637" "subst" "0" "02333" "APTX_000088" "g.32984637C>T" "" "" "" "APTX(NM_001195249.1):c.762G>A (p.P254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537960" "0" "30" "9" "32986031" "32986031" "subst" "0" "02333" "APTX_000089" "g.32986031A>G" "" "" "" "APTX(NM_001195248.1):c.526-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537961" "0" "30" "9" "32986039" "32986040" "ins" "0" "02330" "APTX_000090" "g.32986039_32986040insC" "" "" "" "APTX(NM_001195249.1):c.484-12_484-11insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537962" "0" "10" "9" "32986039" "32986040" "ins" "0" "02325" "APTX_000090" "g.32986039_32986040insC" "" "" "" "APTX(NM_001195249.1):c.484-12_484-11insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537963" "0" "10" "9" "32986039" "32986040" "ins" "0" "02333" "APTX_000091" "g.32986039_32986040insCAAAAA" "" "" "" "APTX(NM_001195249.1):c.484-7_484-6insGTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537964" "0" "10" "9" "32986039" "32986040" "ins" "0" "02333" "APTX_000092" "g.32986039_32986040insCAAAAAAA" "" "" "" "APTX(NM_001195249.1):c.484-5_484-4insGTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537965" "0" "10" "9" "32986039" "32986040" "ins" "0" "02333" "APTX_000093" "g.32986039_32986040insCAAAAAAAAAAAAAAAAA" "" "" "" "APTX(NM_001195249.1):c.484-3_484-2insTTTTTTTTGTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537966" "0" "10" "9" "32986049" "32986050" "ins" "0" "02333" "APTX_000094" "g.32986049_32986050insCA" "" "" "" "APTX(NM_001195249.1):c.484-21_484-20insGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537967" "0" "10" "9" "32987594" "32987594" "subst" "0.00584346" "02330" "APTX_000035" "g.32987594G>T" "" "" "" "APTX(NM_001195249.1):c.431C>A (p.S144Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537968" "0" "10" "9" "32987647" "32987647" "subst" "0.000230663" "02333" "APTX_000095" "g.32987647C>T" "" "" "" "APTX(NM_001195249.1):c.378G>A (p.R126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537969" "0" "30" "9" "32987678" "32987678" "subst" "0" "02333" "APTX_000096" "g.32987678T>C" "" "" "" "APTX(NM_001195249.1):c.347A>G (p.K116R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537970" "0" "10" "9" "32987707" "32987707" "subst" "0.0101492" "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" "" "" "" "" "" "" "" "0000537971" "0" "50" "9" "32989889" "32989889" "subst" "0.0000768876" "02333" "APTX_000097" "g.32989889T>C" "" "" "" "APTX(NM_001195249.1):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000537972" "0" "30" "9" "32989908" "32989908" "subst" "0" "02333" "APTX_000098" "g.32989908A>G" "" "" "" "APTX(NM_001195249.1):c.-4-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000612077" "0" "90" "9" "32984710" "32984710" "subst" "0" "02333" "APTX_000013" "g.32984710A>C" "" "" "" "APTX(NM_001195249.1):c.689T>G (p.V230G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000612078" "0" "50" "9" "32986007" "32986007" "subst" "0" "02333" "APTX_000099" "g.32986007G>A" "" "" "" "APTX(NM_001195248.1):c.547C>T (p.(Gln183Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000612079" "0" "50" "9" "32986019" "32986019" "subst" "0" "02333" "APTX_000100" "g.32986019C>A" "" "" "" "APTX(NM_001195248.1):c.535G>T (p.(Gly179Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000612080" "0" "10" "9" "32986039" "32986040" "ins" "0" "02333" "APTX_000101" "g.32986039_32986040insCAAAAAAAAA" "" "" "" "APTX(NM_001195249.1):c.484-3_484-2insGTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" ## 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 = 147 "{{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}}" "{{VariantOnTranscript/Classification}}" "0000001269" "00023876" "50" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199His)" "7" "" "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.?" "" "likely benign" "0000246788" "00023876" "10" "484" "-12" "484" "-12" "c.484-12T>G" "r.(=)" "p.(=)" "" "benign" "0000250687" "00023876" "10" "484" "-3" "484" "-3" "c.484-3del" "r.spl?" "p.?" "" "benign" "0000250982" "00023876" "10" "484" "-12" "484" "-12" "c.484-12T>G" "r.(=)" "p.(=)" "" "benign" "0000251907" "00023876" "30" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "" "likely benign" "0000253039" "00023876" "10" "484" "-3" "484" "-3" "c.484-3del" "r.spl?" "p.?" "" "benign" "0000256110" "00023876" "50" "203" "0" "203" "0" "c.203T>C" "r.(?)" "p.(Ile68Thr)" "" "VUS" "0000256236" "00023876" "50" "742" "0" "742" "0" "c.742T>A" "r.(?)" "p.(Leu248Met)" "" "VUS" "0000258271" "00023876" "30" "484" "-13" "484" "-13" "c.484-13G>T" "r.(=)" "p.(=)" "" "likely benign" "0000258272" "00023876" "30" "484" "-25" "484" "-4" "c.484-25_484-4del" "r.spl?" "p.?" "" "likely benign" "0000258273" "00023876" "30" "484" "-25" "484" "-5" "c.484-25_484-5del" "r.spl?" "p.?" "" "likely benign" "0000258792" "00023876" "10" "484" "-25" "484" "-4" "c.484-25_484-4del" "r.spl?" "p.?" "" "benign" "0000259517" "00023876" "30" "484" "-13" "484" "-13" "c.484-13del" "r.(=)" "p.(=)" "" "likely benign" "0000259518" "00023876" "30" "971" "0" "971" "0" "c.971A>T" "r.(?)" "p.(Gln324Leu)" "" "likely benign" "0000261021" "00023876" "10" "-111" "16" "-111" "16" "c.-111+16G>T" "r.(=)" "p.(=)" "" "benign" "0000261022" "00023876" "10" "431" "0" "431" "0" "c.431C>A" "r.(?)" "p.(Ser144Tyr)" "" "benign" "0000261023" "00023876" "10" "484" "-13" "484" "-13" "c.484-13G>T" "r.(=)" "p.(=)" "" "benign" "0000261024" "00023876" "10" "484" "-25" "484" "-4" "c.484-25_484-4del" "r.spl?" "p.?" "" "benign" "0000261025" "00023876" "30" "484" "-25" "484" "-5" "c.484-25_484-5del" "r.spl?" "p.?" "" "likely benign" "0000261026" "00023876" "10" "484" "-25" "484" "-25" "c.484-25G>T" "r.(=)" "p.(=)" "" "benign" "0000261027" "00023876" "90" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Gln187*)" "" "pathogenic" "0000261029" "00023876" "10" "875" "-60" "875" "-60" "c.875-60del" "r.(=)" "p.(=)" "" "benign" "0000261030" "00023876" "30" "918" "0" "918" "0" "c.918A>G" "r.(?)" "p.(=)" "" "likely benign" "0000261031" "00023876" "30" "971" "0" "971" "0" "c.971A>T" "r.(?)" "p.(Gln324Leu)" "" "likely benign" "0000262728" "00023876" "50" "125" "0" "125" "0" "c.125G>T" "r.(?)" "p.(Arg42Leu)" "" "VUS" "0000262729" "00023876" "50" "18" "0" "18" "0" "c.18G>T" "r.(?)" "p.(Trp6Cys)" "" "VUS" "0000262730" "00023876" "30" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "" "likely benign" "0000262731" "00023876" "30" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(=)" "" "likely benign" "0000262732" "00023876" "30" "318" "0" "318" "0" "c.318C>T" "r.(?)" "p.(=)" "" "likely benign" "0000262733" "00023876" "30" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13Gln)" "" "likely benign" "0000262734" "00023876" "10" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Lys153Glu)" "" "benign" "0000262735" "00023876" "10" "484" "-25" "484" "-5" "c.484-25_484-5del" "r.spl?" "p.?" "" "benign" "0000262736" "00023876" "10" "543" "30" "543" "30" "c.543+30A>C" "r.(=)" "p.(=)" "" "benign" "0000262737" "00023876" "90" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Gln187*)" "" "pathogenic" "0000262738" "00023876" "90" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Ala198Val)" "" "pathogenic" "0000262739" "00023876" "90" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199His)" "" "pathogenic" "0000262740" "00023876" "50" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245His)" "" "VUS" "0000262741" "00023876" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247*)" "" "pathogenic" "0000262743" "00023876" "90" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "" "pathogenic" "0000262744" "00023876" "50" "847" "0" "847" "0" "c.847A>G" "r.(?)" "p.(Asn283Asp)" "" "VUS" "0000262745" "00023876" "10" "971" "0" "971" "0" "c.971A>T" "r.(?)" "p.(Gln324Leu)" "" "benign" "0000332593" "00023876" "50" "484" "-25" "484" "-6" "c.484-25_484-6del" "r.(=)" "p.(=)" "" "VUS" "0000337794" "00023876" "30" "484" "-13" "484" "-13" "c.484-13G>T" "r.(=)" "p.(=)" "" "likely benign" "0000439728" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "ACMG: 5" "0000441111" "00023876" "33" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Lys153Glu)" "5" "likely benign" "0000441112" "00023876" "99" "589" "0" "589" "0" "c.589A>C" "r.(?)" "p.(Lys197Gln)" "7" "pathogenic (recessive)" "0000441113" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "pathogenic (recessive)" "0000441114" "00023876" "99" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Ala198Val)" "7" "pathogenic (recessive)" "0000441115" "00023876" "99" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199His)" "7" "pathogenic (recessive)" "0000441116" "00023876" "11" "484" "-25" "484" "-6" "c.484-25_484-6del" "r.(?)" "p.?" 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"p.(Asn283Asp)" "8" "VUS" "0000441178" "00023876" "99" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "8" "pathogenic (recessive)" "0000441179" "00023876" "99" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Ala198Val)" "7" "pathogenic (recessive)" "0000441180" "00023876" "99" "0" "0" "0" "0" "c.5+1225_(*892_?)del" "r.?" "p.0?" "2i_9_" "pathogenic (recessive)" "0000441181" "00023876" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_9_" "pathogenic (recessive)" "0000441182" "00023876" "99" "940" "0" "956" "0" "c.940_956del" "r.(?)" "p.(Lys314Serfs*2)" "9" "pathogenic (recessive)" "0000441183" "00023876" "33" "318" "0" "318" "0" "c.318C>T" "r.(?)" "p.(=)" "5" "likely benign" "0000441184" "00023876" "33" "18" "0" "18" "0" "c.18G>T" "r.(?)" "p.(Trp6Cys)" "3" "likely benign" "0000441185" "00023876" "55" "203" "0" "203" "0" "c.203T>C" "r.(?)" "p.(Ile68Thr)" "5" "VUS" "0000441186" "00023876" "90" "875" "-1" "875" "-1" "c.875-1G>A" "r.spl" "p.?" "8i" "pathogenic (recessive)" "0000441187" "00023876" "90" "875" "-1" "875" "-1" "c.875-1G>A" "r.spl" "p.?" "8i" "pathogenic (recessive)" "0000537953" "00023876" "90" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Trp279*)" "" "pathogenic" "0000537954" "00023876" "10" "771" "-13" "771" "-12" "c.771-13_771-12dup" "r.(=)" "p.(=)" "" "benign" "0000537955" "00023876" "30" "771" "-12" "771" "-12" "c.771-12dup" "r.(=)" "p.(=)" "" "likely benign" "0000537956" "00023876" "10" "771" "-12" "771" "-12" "c.771-12dup" "r.(=)" "p.(=)" "" "benign" "0000537957" "00023876" "10" "771" "-12" "771" "-12" "c.771-12dup" "r.(=)" "p.(=)" "" "benign" "0000537959" "00023876" "50" "762" "0" "762" "0" "c.762G>A" "r.(?)" "p.(=)" "" "VUS" "0000537960" "00023876" "30" "484" "-3" "484" "-3" "c.484-3T>C" "r.spl?" "p.?" "" "likely benign" "0000537961" "00023876" "30" "484" "-12" "484" "-11" "c.484-12_484-11insG" "r.(=)" "p.(=)" "" "likely benign" "0000537962" "00023876" "10" "484" "-12" "484" "-11" "c.484-12_484-11insG" "r.(=)" "p.(=)" "" "benign" "0000537963" "00023876" "10" "484" "-7" "484" "-6" "c.484-7_484-6insGTTTTT" "r.(=)" "p.(=)" "" "benign" "0000537964" "00023876" "10" "484" "-5" "484" "-4" "c.484-5_484-4insGTTTTTTT" "r.spl?" "p.?" "" "benign" "0000537965" "00023876" "10" "484" "-3" "484" "-2" "c.484-3_484-2insTTTTTTTTGTTTTTTTTT" "r.spl?" "p.?" "" "benign" "0000537966" "00023876" "10" "484" "-21" "484" "-20" "c.484-21_484-20insGT" "r.(=)" "p.(=)" "" "benign" "0000537967" "00023876" "10" "431" "0" "431" "0" "c.431C>A" "r.(?)" "p.(Ser144Tyr)" "" "benign" "0000537968" "00023876" "10" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(=)" "" "benign" "0000537969" "00023876" "30" "347" "0" "347" "0" "c.347A>G" "r.(?)" "p.(Lys116Arg)" "" "likely benign" "0000537970" "00023876" "10" "318" "0" "318" "0" "c.318C>T" "r.(?)" "p.(=)" "" "benign" "0000537971" "00023876" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "VUS" "0000537972" "00023876" "30" "-4" "-15" "-4" "-15" "c.-4-15T>C" "r.(=)" "p.(=)" "" "likely benign" "0000612077" "00023876" "90" "689" "0" "689" "0" "c.689T>G" "r.(?)" "p.(Val230Gly)" "" "pathogenic" "0000612078" "00023876" "50" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Gln169*)" "" "VUS" "0000612079" "00023876" "50" "493" "0" "493" "0" "c.493G>T" "r.(?)" "p.(Gly165Cys)" "" "VUS" "0000612080" "00023876" "10" "484" "-3" "484" "-2" "c.484-3_484-2insGTTTTTTTTT" "r.spl?" "p.?" "" "benign" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 81 "{{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"