### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPAST) # 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}}" "SPAST" "spastin" "2" "p24-p21" "unknown" "NG_008730.1" "UD_132119163730" "" "http://www.LOVD.nl/SPAST" "" "1" "11233" "6683" "604277" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.\r\nWe gratefully acknowledge the role of Christian Beetz in curating this database (2016-2018)." "" "g" "http://databases.lovd.nl/shared/refseq/SPAST_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-05-31 09:55:28" "00000" "2025-07-08 13:22:38" ## 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}}" "00024039" "SPAST" "transcript variant 1" "001" "NM_014946.3" "" "NP_055761.2" "" "" "" "-221" "4992" "1851" "32288680" "32382706" "00006" "2015-06-15 10:40:27" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018" "HSD10MD" "HSD10 Mi disease" "XLD" "300438" "" "" "" "00008" "2012-07-23 10:50:29" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "01560" "SPG4" "paraplegia, spastic, autosomal dominant, type 4 (SPG4)" "AD" "182601" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-07 08:59:33" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SPAST" "00325" "SPAST" "01560" ## Individuals ## Do not remove or alter this header ## ## Count = 68 "{{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}}" "00039349" "" "" "" "1" "" "01330" "" "" "F" "no" "Greece" "" "0" "" "" "" "" "00039350" "" "" "" "1" "" "01330" "" "" "" "" "Greece" "" "0" "" "" "" "" "00039351" "" "" "" "1" "" "01330" "" "" "" "" "Greece" "" "0" "" "" "" "" "00039352" "" "" "" "1" "" "01330" "" "" "" "" "Greece" "" "0" "" "" "" "" "00046990" "" "" "" "1" "" "01330" "" "h" "" "" "" "" "0" "" "" "" "" "00046991" "" "" "" "1" "" "01330" "" "" "" "" "" "" "0" "" "" "" "" "00046992" "" "" "" "1" "" "01330" "" "" "" "" "" "" "0" "" "" "" "" "00056433" "" "" "" "1" "" "01500" "{PMID:Jahic 2016:26932189}, {DOI:Jahic 2016:10.1038/ejhg.2016.20}" "" "F" "no" "Germany" "" "0" "pedigree" "" "" "FamD-W" "00057909" "" "" "" "1" "" "01500" "{PMID:Jahic 2016:26932189}, {DOI:Jahic 2016:10.1038/ejhg.2016.20}" "" "F" "no" "Germany" "" "0" "pedigree" "" "" "FamN-16" "00080781" "" "" "" "1" "" "01741" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00089030" "" "" "00248846" "1" "" "01500" "{PMID:Jahic 2017:28008689}, {DOI:Jahic 2017:10.1002/humu.23162}" "patientvariant initially described in Beetz et al., 2006, Neurology 67:1926" "F" "no" "Austria" "" "0" "" "" "" "" "00089031" "" "" "" "1" "" "01500" "Jahic et al., Human Mutation (submitted Nov 2016), \"Doublet-mediated ...\"" "" "M" "no" "Germany" "" "0" "" "" "" "" "00089032" "" "" "" "1" "" "01500" "Jahic et al., Human Mutation (submitted Nov 2016), \"Doublet-mediated ...\"" "" "F" "no" "Germany" "" "0" "" "" "" "" "00104052" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00144617" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00147118" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00164713" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00174386" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00183396" "" "" "" "7" "" "02947" "{PMID:Giugliano 2018:30373198}" "4-generation family, 7 affected (4F, 3M)" "F" "" "Italy" "" "0" "" "" "" "Patient XII (PatIII5)" "00206813" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00208844" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00218658" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00227945" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00229649" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00235339" "" "" "" "1" "" "03279" "{PMID:Waters 2019:31654490}" "2-generation pedigree (1 affected male), unaffected heterozygous mother" "M" "" "Canada" ">11y" "0" "yes" "" "French-Canadian" "Fam1PatII1" "00248838" "" "" "" "1" "" "00006" "{PMID:Beetz 2006:17035675}" "" "" "" "" "" "0" "" "" "" "Fam" "00248839" "" "" "" "2" "" "00006" "{PMID:Beetz 2006:17035675}" "2 affected" "" "" "" "" "0" "" "" "" "Fam" "00248840" "" "" "" "1" "" "00006" "{PMID:Beetz 2006:17035675}" "" "" "" "" "" "0" "" "" "" "Fam" "00248841" "" "" "" "1" "" "00006" "{PMID:Beetz 2006:17035675}" "" "" "" "" "" "0" "" "" "" "Fam" "00248842" "" "" "" "90" "" "00006" "{PMID:Beetz 2006:17035675}" "9 affected" "" "" "" "" "0" "" "" "" "Fam" "00248843" "" "" "" "4" "" "00006" "{PMID:Beetz 2006:17035675}" "4 affected" "" "" "Germany" "" "0" "" "" "" "Fam" "00248844" "" "" "" "2" "" "00006" "{PMID:Beetz 2006:17035675}" "2 affected" "" "" "Austria" "" "0" "" "" "" "Fam" "00248845" "" "" "" "1" "" "00006" "{PMID:Beetz 2006:17035675}" "" "" "" "" "" "0" "" "" "" "Fam" "00248846" "" "" "" "2" "" "00006" "{PMID:Beetz 2006:17035675}" "" "" "" "" "" "0" "" "" "" "Fam" "00248847" "" "" "" "1" "" "00006" "{PMID:Beetz 2006:17035675}" "" "" "" "" "" "0" "" "" "" "Fam" "00248848" "" "" "" "4" "" "00006" "{PMID:Beetz 2006:17035675}" "4 affected" "" "" "" "" "0" "" "" "" "Fam" "00248849" "" "" "" "2" "" "00006" "{PMID:Beetz 2006:17035675}" "2 affected" "" "" "" "" "0" "" "" "" "Fam" "00248850" "" "" "" "2" "" "00006" "{PMID:Beetz 2006:17035675}" "2 affected" "" "" "" "" "0" "" "" "" "Fam" "00262117" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00271400" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00292726" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292727" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292728" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295499" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295502" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295597" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00296563" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00300638" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00303036" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat81" "00308007" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00311185" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00327456" "" "" "" "1" "" "01164" "" "" "M" "?" "Finland" "" "0" "" "" "" "174869" "00372580" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00375652" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat44" "00377068" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "180310" "00384981" "" "" "" "1" "" "04181" "" "" "F" "no" "Italy" "" "0" "" "" "" "" "00395533" "" "" "" "1" "" "01164" "" "" "?" "no" "Germany" "" "0" "" "" "" "189474" "00408691" "" "" "" "4" "" "00006" "{PMID:Thomas 2022:34085946}" "patient, affected father, sister and nephew" "" "no" "France" "" "0" "" "" "" "Pat59" "00419495" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9115" "00419607" "" "" "" "2" "" "02300" "{PMID:Marinakis 2021:34008892}" "2-generation family, patient and similarly affected father" "M" "" "Greece" "" "0" "" "" "" "20086" "00419608" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20174" "00428014" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A154" "00428034" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A237" "00435106" "" "" "" "1" "" "01709" "" "" "M" "no" "Brazil" "" "0" "" "" "" "" "00450516" "" "" "" "2" "" "00006" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "family, affected daughter/mother" "F" "" "" "" "0" "" "" "" "F084.1/2" "00451032" "" "" "" "1" "" "00006" "{PMID:Chen 2024:38756899}" "" "M" "" "China" "" "0" "" "" "" "Pat2" "00455814" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat54" "00455844" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat84" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 66 "{{individualid}}" "{{diseaseid}}" "00039349" "00325" "00039350" "00325" "00039351" "01560" "00039352" "01560" "00046990" "01560" "00046991" "01560" "00046992" "01560" "00056433" "00325" "00057909" "00325" "00080781" "00325" "00089030" "00325" "00089031" "00325" "00104052" "01560" "00144617" "00198" "00147118" "00198" "00164713" "00198" "00174386" "00198" "00183396" "00325" "00206813" "00198" "00218658" "00198" "00227945" "00198" "00229649" "00198" "00235339" "00018" "00235339" "01560" "00248838" "00325" "00248839" "00325" "00248840" "00325" "00248841" "00325" "00248842" "00325" "00248843" "00325" "00248844" "00325" "00248845" "00325" "00248846" "00325" "00248847" "00325" "00248848" "00325" "00248849" "00325" "00248850" "00325" "00271400" "00198" "00292726" "00198" "00292727" "00198" "00292728" "00198" "00295499" "00198" "00295502" "00198" "00295597" "00198" "00296563" "00198" "00300638" "00198" "00303036" "05521" "00308007" "00198" "00311185" "00198" "00327456" "01560" "00372580" "00198" "00375652" "00198" "00377068" "01560" "00384981" "01560" "00395533" "01560" "00408691" "00325" "00419495" "00198" "00419607" "00198" "00419608" "00198" "00428014" "00198" "00428034" "00198" "00435106" "01560" "00450516" "00325" "00451032" "05121" "00455814" "00198" "00455844" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00018, 00198, 00325, 01560, 05121, 05521 ## Count = 65 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/enzyme_act}}" "{{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}}" "0000029689" "00325" "00039349" "01330" "Familial, autosomal dominant" "" "" "" "02y?" "" "" "" "" "" "" "" "" "" "" "0000029690" "00325" "00039350" "01330" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029691" "01560" "00039351" "01330" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029692" "01560" "00039352" "01330" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035823" "01560" "00046990" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035824" "01560" "00046991" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035825" "01560" "00046992" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043058" "00325" "00056433" "" "Unknown" "" "clinical diagnosis of \"pure hereditary spastic paraplegia\"; knowing that SPAST is the mutated gene, the corresponding OMIM is 182601 (SPG-4)" "" "" "" "" "" "" "" "" "" "" "" "" "0000044562" "00325" "00057909" "01500" "Unknown" "" "clinical diagnosis of pure hereditary spastic paraplegia; knowing that SPAST is the mutated gene, the corresponding OMIM is 182601 (SPG-4)" "" "" "" "" "" "" "" "" "" "" "" "" "0000060352" "00325" "00080781" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068435" "00325" "00089030" "01500" "Unknown" "" "diagnosed with \"hereditary spastic paraplegia\" (pure form)" "" "" "" "" "" "" "" "" "" "" "" "" "0000068436" "00325" "00089031" "01500" "Unknown" "" "diagnosed with \"hereditary spastic paraplegia\" (pure form)" "" "" "" "" "" "" "" "" "" "" "" "" "0000082209" "01560" "00104052" "01741" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000117358" "00198" "00144617" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "" "0000119834" "00198" "00147118" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "" "0000129752" "00198" "00164713" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "" "0000139224" "00198" "00174386" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "" "0000154602" "00198" "00206813" "01807" "Unknown" "" "HP:0001257 (Spasticity)" "" "" "" "" "" "" "" "" "" "" "" "" "0000157453" "00198" "00208844" "01164" "Unknown" "" "HP:0011805 (Abnormality of muscle morphology); HP:0001288 (Gait disturbance); HP:0001324 (Muscle weakness); HP:0011804 (Abnormality of muscle physiology)" "" "" "" "" "" "" "" "" "" "" "" "" "0000167138" "00198" "00218658" "01807" "Unknown" "" "Spasticity (HP:0001257); Seizures (HP:0001250); Poor motor coordination (HP:0002275)" "" "" "" "" "" "" "" "" "" "" "" "" "0000171330" "00325" "00183396" "00006" "Familial, autosomal dominant" "" "onset juvenile, hyposthenia, fatigue, proximal muscle weakness lower limbs, normal CPK, EMG mixed" "" "" "" "hyposthenia, fatigue" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000171936" "00198" "00227945" "01807" "Unknown" "" "Ataxia (HP:0001251); Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "" "0000172874" "00198" "00229649" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "" "0000175601" "00018" "00235339" "03279" "Familial, X-linked" "" "elevation of 2-methyl-3-hydroxybutyrate (94; normal <18 mmol/mol creatinine) and tiglylglycine (74; normal <5 mmol/mol creatinine)" "" "00y06m" "06y" "progressive spastic quadriplegia (HP:0002478), motor delay (HP:0001270)" "" "" "" "" "" "HSD10D" "" "" "0000187807" "00325" "00248838" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000187808" "00325" "00248839" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000187809" "00325" "00248840" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000187810" "00325" "00248841" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000187811" "00325" "00248842" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000187812" "00325" "00248843" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000187813" "00325" "00248844" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000187814" "00325" "00248845" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000187815" "00325" "00248846" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000187816" "00325" "00248847" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000187817" "00325" "00248848" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000187818" "00325" "00248849" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000187819" "00325" "00248850" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG-4" "spastic paraplegia" "" "0000200597" "00198" "00262117" "01164" "Unknown" "" "Spastic paraparesis (HP:0002313)" "" "" "" "" "" "" "" "" "" "" "" "" "0000208008" "00198" "00271400" "01164" "Unknown" "" "Spastic tetraplegia (HP:0002510)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223070" "00198" "00295499" "01164" "Unknown" "" "Abnormality of movement (HP:0100022)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223073" "00198" "00295502" "01164" "Unknown" "" "Spastic paraparesis (HP:0002313); Abnormal muscle tone (HP:0003808)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223162" "00198" "00295597" "01164" "Unknown" "" "Spastic paraparesis (HP:0002313)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223969" "00198" "00296563" "01164" "Unknown" "" "Paraplegia/paraparesis (HP:0010551); Lower limb muscle weakness (HP:0007340); Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "" "0000227949" "00198" "00300638" "01164" "Unknown" "" "Spastic diplegia (HP:0001264)" "" "" "" "" "" "" "" "" "" "" "" "" "0000230119" "05521" "00303036" "00006" "Familial, autosomal recessive" "" "Epileptic Encephalopathy, Infantile Onset; age onset infantile" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230170" "01560" "00235339" "00006" "Isolated (sporadic)" "" "progressive spastic quadriplegia (HP:0002478), motor delay (HP:0001270), dysarthria (HP:0001260)" "" "00y06m" "" "progressive spastic quadriplegia (HP:0002478), motor delay (HP:0001270)" "" "" "" "" "" "SPG4" "" "" "0000233430" "00198" "00308007" "01164" "Unknown" "" "Motor delay (HP:0001270); Paraplegia/paraparesis (HP:0010551)" "" "" "" "" "" "" "" "" "" "" "" "" "0000236438" "00198" "00311185" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "" "0000245745" "01560" "00327456" "01164" "Familial, autosomal dominant" "06y" "(+) Spastic paraparesis,(+) Lower limb hyperreflexia,(+) Tip-toe gait" "" "" "" "" "" "" "" "" "" "" "" "" "0000267893" "00198" "00372580" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "" "0000270865" "00198" "00375652" "00006" "Isolated (sporadic)" "" "intellectual disability/developmental delay; dystonic cerebral palsy; dysarthria; dystonic CP, hypotonia, dystonia; hyper-reflexia; MRI brain thin corpus callosum, thalamus signal changes" "" "" "7y" "" "" "" "" "" "" "" "" "" "0000272257" "01560" "00377068" "01164" "Unknown" "17y" "Decreased nerve conduction velocity, Tachycardia, Decreased motor nerve conduction velocity, Abnormal nerve conduction velocity" "" "" "" "" "" "" "" "" "" "" "" "" "0000278766" "01560" "00384981" "04181" "Familial, autosomal dominant" "" "spastic paraplegia" "" "" "" "" "" "" "" "" "" "SPG4" "spastic paraplegia" "" "0000288731" "01560" "00395533" "01164" "Familial, autosomal dominant" "" "Spastic paraparesis, Progressive spastic paraparesis, Spastic paraplegia, Paraplegia (mother also affected)" "" "" "" "50y" "" "" "" "" "" "" "" "" "0000300809" "00325" "00408691" "00006" "Familial, autosomal dominant" "" "" "" "51y" "" "" "" "" "" "" "" "SPG4" "spastic paraplegia" "" "0000310776" "00198" "00419495" "02300" "Familial, autosomal dominant" "2y" "spastic paraplegia" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000310888" "00198" "00419607" "02300" "Familial, autosomal dominant" "66y" "" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000310889" "00198" "00419608" "02300" "Isolated (sporadic)" "35y" "" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000318960" "00198" "00428014" "00006" "Familial, autosomal dominant" "60y" "" "" "" "" "" "" "" "" "" "" "Spastic paraplegia 4, autosomal dominant" "" "" "0000318980" "00198" "00428034" "00006" "Unknown" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325339" "01560" "00435106" "01709" "Familial, autosomal dominant" "" "HPO:0001257 \r\nSpasticity" "" "" "" "" "" "" "" "" "" "Paraplegia, spastic, autosomal dominant, type 4 (SPG4)" "Paraplegia, spastic, autosomal dominant, type 4 (SPG4)" "" "0000339571" "00325" "00450516" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "HSP4" "hereditary spastic paraplegia" "" "0000340088" "05121" "00451032" "00006" "Isolated (sporadic)" "02y" "see paper; ..., unable to walk; significantly increased muscle tension, poor activity, joint contracture both lower limbs; X-ray dysplasia hip joints; cognitive impairment, intellectual disability; 2y-dysfunction bladder sphincter evidenced by urinary urgency and urinary incontinence symptoms" "" "" "" "" "" "" "" "" "" "SPG4" "spastic paraplegia" "" "0000344347" "00198" "00455814" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG4" "neurogenetic diseases" "" "0000344377" "00198" "00455844" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "SPG4" "neurogenetic diseases" "" ## Screenings ## Do not remove or alter this header ## ## Count = 68 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000039587" "00039349" "1" "01330" "01330" "2015-06-13 10:45:09" "" "" "SEQ" "DNA" "" "" "0000039588" "00039350" "1" "01330" "01330" "2015-06-13 11:08:52" "" "" "SEQ" "DNA" "" "" "0000039589" "00039351" "1" "01330" "01330" "2015-06-13 11:14:14" "" "" "SEQ" "DNA" "" "" "0000039590" "00039352" "1" "01330" "01330" "2015-06-13 11:27:41" "" "" "SEQ" "DNA" "" "" "0000047190" "00046990" "1" "01330" "01330" "2015-08-04 16:13:45" "" "" "SEQ" "DNA" "" "" "0000047191" "00046991" "1" "01330" "01330" "2015-08-04 16:18:55" "" "" "SEQ" "DNA" "" "" "0000047192" "00046992" "1" "01330" "01330" "2015-08-04 16:23:08" "" "" "SEQ" "DNA" "" "" "0000056392" "00056433" "1" "01500" "01500" "2016-01-06 08:58:37" "00006" "2019-07-28 16:38:31" "RT-PCR;SEQ" "DNA;RNA" "leuocytes" "" "0000057871" "00057909" "1" "01500" "01500" "2016-01-06 08:58:37" "00006" "2019-07-28 16:36:22" "RT-PCR;SEQ" "DNA;RNA" "leuocytes" "" "0000080893" "00080781" "1" "01741" "01741" "2016-09-13 10:03:27" "" "" "SEQ" "DNA" "" "" "0000089175" "00089030" "1" "01500" "01500" "2016-11-28 10:07:21" "" "" "SEQ" "DNA" "leukocytes" "" "0000089176" "00089031" "1" "01500" "01500" "2016-11-28 10:15:40" "" "" "SEQ" "DNA" "leukocytes" "" "0000089177" "00089032" "1" "01500" "01500" "2016-11-28 10:20:55" "" "" "SEQ" "DNA" "leukocytes" "" "0000104523" "00104052" "1" "01741" "01741" "2017-05-09 09:11:53" "" "" "SEQ" "DNA" "" "" "0000145474" "00144617" "0" "01807" "01807" "2017-12-18 12:53:47" "" "" "SEQ" "DNA" "" "" "0000147973" "00147118" "0" "01807" "01807" "2018-01-01 18:31:46" "" "" "SEQ" "DNA" "" "" "0000165580" "00164713" "1" "01807" "01807" "2018-06-05 19:09:01" "" "" "SEQ" "DNA" "" "" "0000175277" "00174386" "1" "01807" "01807" "2018-08-08 12:33:57" "" "" "SEQ" "DNA" "" "" "0000184364" "00183396" "1" "02947" "02947" "2018-10-25 13:23:08" "" "" "arrayCGH" "DNA" "" "" "0000207847" "00206813" "1" "01807" "01807" "2018-11-14 14:33:21" "" "" "SEQ" "DNA" "" "" "0000209889" "00208844" "1" "01164" "01164" "2018-12-18 12:12:02" "" "" "SEQ-NG" "DNA" "" "" "0000219728" "00218658" "1" "01807" "01807" "2019-01-31 10:14:41" "" "" "SEQ" "DNA" "" "" "0000229031" "00227945" "1" "01807" "01807" "2019-03-15 19:53:50" "" "" "SEQ" "DNA" "" "" "0000230742" "00229649" "1" "01807" "01807" "2019-04-08 10:01:27" "" "" "SEQ" "DNA" "" "" "0000236444" "00235339" "1" "03279" "03279" "2019-05-22 19:30:25" "00006" "2020-06-05 18:39:58" "SEQ-NG" "DNA" "" "WES" "0000249940" "00248838" "1" "00006" "00006" "2019-07-28 15:13:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000249941" "00248839" "1" "00006" "00006" "2019-07-28 15:13:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000249942" "00248840" "1" "00006" "00006" "2019-07-28 15:13:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000249943" "00248841" "1" "00006" "00006" "2019-07-28 15:13:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000249944" "00248842" "1" "00006" "00006" "2019-07-28 15:13:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000249945" "00248843" "1" "00006" "00006" "2019-07-28 15:13:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000249946" "00248844" "1" "00006" "00006" "2019-07-28 15:13:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000249947" "00248845" "1" "00006" "00006" "2019-07-28 15:13:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000249948" "00248846" "1" "00006" "00006" "2019-07-28 15:13:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000249949" "00248847" "1" "00006" "00006" "2019-07-28 15:13:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000249950" "00248848" "1" "00006" "00006" "2019-07-28 15:13:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000249951" "00248849" "1" "00006" "00006" "2019-07-28 15:13:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000249952" "00248850" "1" "00006" "00006" "2019-07-28 15:13:22" "" "" "MLPA;SEQ" "DNA" "" "" "0000263223" "00262117" "1" "01164" "01164" "2019-08-19 09:49:14" "" "" "SEQ-NG-S" "DNA" "" "" "0000272551" "00271400" "1" "01164" "01164" "2019-12-19 11:55:42" "" "" "SEQ-NG-S" "DNA" "" "" "0000293894" "00292726" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293895" "00292727" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293896" "00292728" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296667" "00295499" "1" "01164" "01164" "2020-03-12 11:13:19" "" "" "SEQ-NG-S" "DNA" "" "" "0000296670" "00295502" "1" "01164" "01164" "2020-03-12 11:13:25" "" "" "SEQ-NG-S" "DNA" "" "" "0000296767" "00295597" "1" "01164" "01164" "2020-03-18 10:49:34" "" "" "SEQ-NG-S" "DNA" "" "" "0000297673" "00296563" "1" "01164" "01164" "2020-04-08 14:11:02" "" "" "SEQ-NG-S" "DNA" "" "" "0000301759" "00300638" "1" "01164" "01164" "2020-05-04 10:25:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000304161" "00303036" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000309151" "00308007" "1" "01164" "01164" "2020-08-25 11:35:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000312341" "00311185" "1" "01807" "01807" "2020-09-21 13:04:01" "" "" "SEQ" "DNA" "" "" "0000328668" "00327456" "1" "01164" "01164" "2021-01-21 13:26:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000373812" "00372580" "1" "01807" "01807" "2021-05-10 10:02:02" "" "" "SEQ" "DNA" "" "" "0000376849" "00375652" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000378274" "00377068" "1" "01164" "01164" "2021-06-30 13:45:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000386209" "00384981" "1" "04181" "04181" "2021-10-06 15:00:04" "" "" "SEQ" "DNA" "" "" "0000396771" "00395533" "1" "01164" "01164" "2021-12-07 12:28:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000409953" "00408691" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ" "DNA" "" "clincal WES" "0000420799" "00419495" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420911" "00419607" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420912" "00419608" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429427" "00428014" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000429447" "00428034" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "trio WES" "0000436578" "00435106" "1" "01709" "01709" "2023-05-11 02:03:51" "" "" "SEQ-NG" "DNA" "" "" "0000452114" "00450516" "1" "00006" "00006" "2024-05-29 10:38:00" "00006" "2024-05-29 10:41:46" "RT-PCR;SEQ;SEQ-PB" "DNA;RNA" "" "WGS" "0000452631" "00451032" "1" "00006" "00006" "2024-05-31 09:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457430" "00455814" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457460" "00455844" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{geneid}}" "0000039587" "SPAST" "0000039588" "SPAST" "0000039589" "SPAST" "0000039590" "SPAST" "0000047190" "SPAST" "0000047191" "SPAST" "0000047192" "SPAST" "0000056392" "SPAST" "0000057871" "SPAST" "0000080893" "SPAST" "0000089175" "SPAST" "0000089176" "SPAST" "0000089177" "SPAST" "0000104523" "SPAST" "0000249940" "SPAST" "0000249941" "SPAST" "0000249942" "SPAST" "0000249943" "SPAST" "0000249944" "SPAST" "0000249945" "SPAST" "0000249946" "SPAST" "0000249947" "SPAST" "0000249948" "SPAST" "0000249949" "SPAST" "0000249950" "SPAST" "0000249951" "SPAST" "0000249952" "SPAST" "0000304161" "SPAST" "0000328668" "SPAST" "0000378274" "SPAST" "0000386209" "SPAST" "0000396771" "SPAST" "0000452631" "SPAST" ## 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 = 234 "{{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}}" "0000067188" "0" "70" "2" "32312575" "32312575" "subst" "0" "01330" "SPAST_000001" "g.32312575C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32087506C>T" "" "likely pathogenic" "" "0000067189" "0" "70" "2" "32314663" "32314663" "subst" "0" "01330" "SPAST_000002" "g.32314663T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32089594T>A" "" "likely pathogenic" "" "0000067190" "0" "50" "2" "32366987" "32366987" "subst" "0" "01330" "SPAST_000003" "g.32366987G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.32141918G>C" "" "VUS" "" "0000067191" "0" "70" "2" "32370077" "32370077" "dup" "0" "01330" "SPAST_000004" "g.32370077dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32145008dup" "" "likely pathogenic" "" "0000075860" "0" "70" "2" "32367015" "32367015" "subst" "0" "01330" "SPAST_000005" "g.32367015G>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.32141946G>C" "" "likely pathogenic" "" "0000075861" "0" "50" "2" "32361946" "32361946" "subst" "0" "01330" "SPAST_000006" "g.32361946A>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.32136877A>T" "" "VUS" "" "0000075862" "0" "57" "2" "32362181" "32362181" "subst" "0" "01330" "SPAST_000007" "g.32362181C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32137112C>T" "" "VUS" "" "0000086632" "11" "70" "2" "32365858" "32372952" "" "0" "01500" "SPAST_000009" "g.32365858_32372952delinsNC_000006.12:g.117393_117647inv" "" "{PMID:Jahic 2016:26932189}, {DOI:Jahic 2016:10.1038/ejhg.2016.20}" "" "ex13_16del" "suggested to have originated from an ancestral variant allele\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 41: expected EOF). Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000087420" "1" "50" "2" "32365857" "32365858" "" "0" "01500" "SPAST_000010" "g.32365857_32365858ins(AluYb8)ins32365842_32365857" "" "in revision for EJHG" "" "hypothetical" "suggested ancestral allele of the 2 deletions reported\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 35: Syntax error). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000088192" "1" "70" "2" "32361477" "32365841" "delins" "0" "01500" "SPAST_000008" "g.32361477_32365841delinsCCACCGCGCCCGGCC" "" "{PMID:Jahic 2016:26932189}, {DOI:Jahic 2016:10.1038/ejhg.2016.20}" "" "del ex10-12" "suggested to have originated from an ancestral variant allele" "Germline" "yes" "" "0" "" "" "g.32136408_32140772delinsCCACCGCGCCCGGCC" "" "pathogenic (dominant)" "" "0000129953" "0" "50" "2" "32372290" "32372295" "del" "0" "01741" "SPAST_000011" "g.32372290_32372295del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32147221_32147226del" "" "VUS" "" "0000147087" "1" "99" "2" "32360887" "32361775" "del" "0" "01500" "SPAST_000012" "g.32360887_32361775del" "" "{PMID:Jahic 2017:28008689}, {DOI:Jahic 2017:10.1002/humu.23162}" "" "deletion exon 10 (Beetz et al., 2006, Neurology 67:1926)" "" "Germline" "?" "" "0" "" "" "g.32135818_32136706del" "" "pathogenic (dominant)" "" "0000147088" "21" "99" "2" "32360887" "32361775" "" "0" "01500" "SPAST_000013" "g.[32360887_32361775del;32361821A>G]" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000147089" "0" "99" "2" "32360887" "32361775" "" "0" "01500" "SPAST_000013" "g.[32360887_32361775del;32361821A>G]" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000169467" "0" "90" "2" "32362009" "32362013" "del" "0" "01741" "SPAST_000014" "g.32362009_32362013del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32136940_32136944del" "" "pathogenic" "" "0000237846" "0" "90" "2" "32289167" "32289167" "dup" "0" "01807" "SPAST_000015" "g.32289167dup" "" "" "" "267dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32064098dup" "" "pathogenic" "" "0000241254" "0" "90" "2" "32339807" "32339807" "dup" "0" "01807" "SPAST_000016" "g.32339807dup" "" "" "" "783dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32114738dup" "" "pathogenic" "" "0000252663" "0" "50" "2" "32361985" "32361985" "subst" "0" "02326" "SPAST_000021" "g.32361985A>C" "" "" "" "SPAST(NM_014946.3):c.1361A>C (p.E454A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32136916A>C" "" "VUS" "" "0000256402" "0" "50" "2" "32379449" "32379449" "subst" "0.000366464" "01943" "SPAST_000025" "g.32379449A>C" "" "" "" "SPAST(NM_014946.3):c.1735A>C (p.N579H), SPAST(NM_014946.4):c.1735A>C (p.N579H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32154380A>C" "" "VUS" "" "0000256538" "0" "50" "2" "32314635" "32314635" "subst" "0" "01943" "SPAST_000018" "g.32314635A>G" "" "" "" "SPAST(NM_014946.3):c.547A>G (p.T183A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32089566A>G" "" "VUS" "" "0000296120" "0" "10" "2" "32366970" "32366970" "del" "0" "02330" "SPAST_000023" "g.32366970del" "" "" "" "SPAST(NM_014946.4):c.1494-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32141901del" "" "benign" "" "0000298444" "0" "30" "2" "32289031" "32289031" "subst" "0.00461084" "02325" "SPAST_000017" "g.32289031C>T" "" "" "" "SPAST(NM_014946.3):c.131C>T (p.S44L), SPAST(NM_014946.4):c.131C>T (p.(Ser44Leu), p.S44L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32063962C>T" "" "likely benign" "" "0000299678" "0" "90" "2" "32366975" "32366975" "subst" "0" "02329" "SPAST_000024" "g.32366975G>A" "" "" "" "SPAST(NM_014946.3):c.1496G>A (p.R499H), SPAST(NM_014946.4):c.1496G>A (p.R499H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32141906G>A" "" "pathogenic" "" "0000302407" "0" "70" "2" "32353477" "32353477" "del" "0" "02326" "SPAST_000020" "g.32353477del" "" "" "" "SPAST(NM_014946.3):c.1174-1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32128408del" "" "likely pathogenic" "" "0000302408" "0" "30" "2" "32289031" "32289031" "subst" "0.00461084" "02326" "SPAST_000017" "g.32289031C>T" "" "" "" "SPAST(NM_014946.3):c.131C>T (p.S44L), SPAST(NM_014946.4):c.131C>T (p.(Ser44Leu), p.S44L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32063962C>T" "" "likely benign" "" "0000302409" "0" "90" "2" "32366975" "32366975" "subst" "0" "02326" "SPAST_000024" "g.32366975G>A" "" "" "" "SPAST(NM_014946.3):c.1496G>A (p.R499H), SPAST(NM_014946.4):c.1496G>A (p.R499H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32141906G>A" "" "pathogenic" "" "0000302410" "0" "10" "2" "32340779" "32340779" "subst" "0.00955131" "02326" "SPAST_000019" "g.32340779G>A" "" "" "" "SPAST(NM_014946.3):c.879G>A (p.P293=), SPAST(NM_014946.4):c.879G>A (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32115710G>A" "" "benign" "" "0000336857" "0" "90" "2" "32379441" "32379441" "subst" "0" "02327" "SPAST_000122" "g.32379441A>T" "" "" "" "SPAST():g.32379441A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32154372A>T" "" "pathogenic" "" "0000337704" "0" "30" "2" "32288894" "32288894" "subst" "0.000107655" "02327" "SPAST_000026" "g.32288894G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32063825G>A" "" "likely benign" "" "0000337706" "0" "90" "2" "32341182" "32341182" "subst" "0" "02327" "SPAST_000052" "g.32341182T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32116113T>A" "" "pathogenic" "" "0000337710" "0" "10" "2" "32362076" "32362077" "ins" "0" "02327" "SPAST_000097" "g.32362076_32362077insATAT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32137007_32137008insATAT" "" "benign" "" "0000337711" "0" "90" "2" "32362259" "32362259" "subst" "0" "02327" "SPAST_000104" "g.32362259T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32137190T>G" "" "pathogenic" "" "0000337712" "0" "30" "2" "32362275" "32362275" "subst" "0.00290736" "02327" "SPAST_000105" "g.32362275G>T" "" "" "" "SPAST(NM_014946.3):c.1493+18G>T (p.?), SPAST(NM_014946.4):c.1493+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32137206G>T" "" "likely benign" "" "0000337713" "0" "90" "2" "32368488" "32368488" "subst" "0" "02327" "SPAST_000113" "g.32368488A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32143419A>T" "" "pathogenic" "" "0000337714" "0" "90" "2" "32372285" "32372285" "subst" "0" "02327" "SPAST_000118" "g.32372285A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32147216A>G" "" "pathogenic" "" "0000337715" "0" "90" "2" "32379442" "32379442" "subst" "0" "02327" "SPAST_000123" "g.32379442G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32154373G>C" "" "pathogenic" "" "0000338967" "0" "90" "2" "32352092" "32352092" "subst" "0" "02327" "SPAST_000068" "g.32352092G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32127023G>A" "" "pathogenic" "" "0000339139" "0" "70" "2" "32362230" "32362230" "subst" "0" "02327" "SPAST_000103" "g.32362230C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32137161C>T" "" "likely pathogenic" "" "0000339187" "0" "50" "2" "32379563" "32379563" "subst" "0" "02327" "SPAST_000130" "g.32379563T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32154494T>A" "" "VUS" "" "0000339194" "0" "30" "2" "32352108" "32352108" "subst" "0.000861564" "02327" "SPAST_000069" "g.32352108A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32127039A>C" "" "likely benign" "" "0000339823" "0" "10" "2" "32289017" "32289017" "subst" "8.51782E-6" "02327" "SPAST_000028" "g.32289017C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32063948C>G" "" "benign" "" "0000339824" "0" "30" "2" "32289023" "32289023" "subst" "0" "02327" "SPAST_000029" "g.32289023G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32063954G>T" "" "likely benign" "" "0000339825" "0" "30" "2" "32289206" "32289206" "subst" "1.18259E-5" "02327" "SPAST_000033" "g.32289206C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32064137C>T" "" "likely benign" "" "0000339826" "0" "30" "2" "32340779" "32340779" "subst" "0.00955131" "02327" "SPAST_000019" "g.32340779G>A" "" "" "" "SPAST(NM_014946.3):c.879G>A (p.P293=), SPAST(NM_014946.4):c.879G>A (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32115710G>A" "" "likely benign" "" "0000339827" "0" "70" "2" "32352091" "32352091" "subst" "0" "02327" "SPAST_000067" "g.32352091G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32127022G>A" "" "likely pathogenic" "" "0000341387" "0" "50" "2" "32341231" "32341231" "subst" "0" "02327" "SPAST_000055" "g.32341231G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32116162G>C" "" "VUS" "" "0000341421" "0" "90" "2" "32353477" "32353477" "del" "0" "02327" "SPAST_000071" "g.32353477del" "" "" "" "SPAST(NM_014946.3):c.1174-1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32128408del" "" "pathogenic" "" "0000341430" "0" "90" "2" "32353529" "32353529" "subst" "0" "02327" "SPAST_000077" "g.32353529C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32128460C>T" "" "pathogenic" "" "0000342941" "0" "90" "2" "32362002" "32362002" "subst" "0" "02327" "SPAST_000092" "g.32362002C>T" "" "" "" "SPAST(NM_014946.3):c.1378C>T (p.R460C), SPAST(NM_014946.4):c.1378C>T (p.R460C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32136933C>T" "" "pathogenic" "" "0000342943" "0" "50" "2" "32362003" "32362003" "subst" "0" "02327" "SPAST_000094" "g.32362003G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32136934G>A" "" "VUS" "" "0000342944" "0" "70" "2" "32362002" "32362002" "subst" "0" "02327" "SPAST_000093" "g.32362002C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32136933C>A" "" "likely pathogenic" "" "0000343018" "0" "90" "2" "32366974" "32366974" "subst" "0" "02327" "SPAST_000107" "g.32366974C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32141905C>T" "" "pathogenic" "" "0000343019" "0" "90" "2" "32366974" "32366975" "ins" "0" "02327" "SPAST_000108" "g.32366974_32366975insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32141905_32141906insT" "" "pathogenic" "" "0000343020" "0" "90" "2" "32366975" "32366975" "subst" "0" "02327" "SPAST_000024" "g.32366975G>A" "" "" "" "SPAST(NM_014946.3):c.1496G>A (p.R499H), SPAST(NM_014946.4):c.1496G>A (p.R499H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32141906G>A" "" "pathogenic" "" "0000343110" "0" "90" "2" "32370074" "32370074" "subst" "0" "02327" "SPAST_000117" "g.32370074G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32145005G>A" "" "pathogenic" "" "0000343132" "0" "90" "2" "32379455" "32379455" "subst" "4.07256E-6" "02327" "SPAST_000125" "g.32379455C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32154386C>T" "" "pathogenic" "" "0000343708" "0" "70" "2" "32340855" "32340855" "subst" "0" "02327" "SPAST_000049" "g.32340855A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32115786A>T" "" "likely pathogenic" "" "0000343788" "0" "30" "2" "32379449" "32379449" "subst" "0.000366464" "02327" "SPAST_000025" "g.32379449A>C" "" "" "" "SPAST(NM_014946.3):c.1735A>C (p.N579H), SPAST(NM_014946.4):c.1735A>C (p.N579H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32154380A>C" "" "likely benign" "" "0000343801" "0" "50" "2" "32379538" "32379538" "subst" "0" "02327" "SPAST_000129" "g.32379538C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32154469C>G" "" "VUS" "" "0000344780" "0" "50" "2" "32341223" "32341223" "subst" "0" "02327" "SPAST_000053" "g.32341223A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32116154A>G" "" "VUS" "" "0000344901" "0" "90" "2" "32372301" "32372301" "subst" "0" "02327" "SPAST_000120" "g.32372301C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32147232C>T" "" "pathogenic" "" "0000345421" "0" "90" "2" "32361950" "32361950" "subst" "0" "02327" "SPAST_000090" "g.32361950A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32136881A>T" "" "pathogenic" "" "0000345427" "0" "70" "2" "32361985" "32361985" "subst" "0" "02327" "SPAST_000021" "g.32361985A>C" "" "" "" "SPAST(NM_014946.3):c.1361A>C (p.E454A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32136916A>C" "" "likely pathogenic" "" "0000345648" "0" "90" "2" "32289228" "32289240" "del" "0" "02327" "SPAST_000034" "g.32289228_32289240del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32064159_32064171del" "" "pathogenic" "" "0000346106" "0" "70" "2" "32362214" "32362214" "subst" "0" "02327" "SPAST_000101" "g.32362214G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32137145G>C" "" "likely pathogenic" "" "0000346772" "0" "70" "2" "32379489" "32379489" "subst" "0" "02327" "SPAST_000127" "g.32379489T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32154420T>A" "" "likely pathogenic" "" "0000346773" "0" "50" "2" "32379489" "32379489" "subst" "0" "02327" "SPAST_000128" "g.32379489T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32154420T>C" "" "VUS" "" "0000346972" "0" "50" "2" "32314671" "32314671" "subst" "0" "02327" "SPAST_000041" "g.32314671C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32089602C>G" "" "VUS" "" "0000347115" "0" "50" "2" "32341228" "32341228" "subst" "0" "02327" "SPAST_000054" "g.32341228T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32116159T>G" "" "VUS" "" "0000347116" "0" "90" "2" "32341244" "32341244" "subst" "0" "02327" "SPAST_000057" "g.32341244T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32116175T>A" "" "pathogenic" "" "0000347128" "0" "50" "2" "32352051" "32352051" "subst" "0" "02327" "SPAST_000062" "g.32352051T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32126982T>G" "" "VUS" "" "0000347162" "0" "90" "2" "32361652" "32361652" "subst" "0" "02327" "SPAST_000083" "g.32361652G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32136583G>C" "" "pathogenic" "" "0000347165" "0" "70" "2" "32361662" "32361662" "subst" "0" "02327" "SPAST_000084" "g.32361662C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32136593C>T" "" "likely pathogenic" "" "0000347166" "0" "70" "2" "32361662" "32361662" "subst" "0" "02327" "SPAST_000085" "g.32361662C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32136593C>G" "" "likely pathogenic" "" "0000347215" "0" "50" "2" "32368468" "32368468" "subst" "0" "02327" "SPAST_000112" "g.32368468C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32143399C>G" "" "VUS" "" "0000347381" "0" "90" "2" "32289261" "32289261" "subst" "0" "02327" "SPAST_000035" "g.32289261A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32064192A>T" "" "pathogenic" "" "0000347562" "0" "70" "2" "32353545" "32353545" "subst" "0" "02327" "SPAST_000079" "g.32353545A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32128476A>G" "" "likely pathogenic" "" "0000347578" "0" "50" "2" "32362009" "32362009" "subst" "0" "02327" "SPAST_000095" "g.32362009A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32136940A>G" "" "VUS" "" "0000347829" "0" "90" "2" "32352087" "32352087" "subst" "0" "02327" "SPAST_000065" "g.32352087T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32127018T>G" "" "pathogenic" "" "0000347831" "0" "50" "2" "32352088" "32352088" "subst" "0" "02327" "SPAST_000066" "g.32352088G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32127019G>A" "" "VUS" "" "0000347849" "0" "70" "2" "32362213" "32362213" "subst" "0" "02327" "SPAST_000100" "g.32362213G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32137144G>T" "" "likely pathogenic" "" "0000347850" "0" "50" "2" "32362212" "32362212" "subst" "0" "02327" "SPAST_000099" "g.32362212T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32137143T>C" "" "VUS" "" "0000348045" "0" "50" "2" "32361665" "32361665" "subst" "0" "02327" "SPAST_000086" "g.32361665T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32136596T>C" "" "VUS" "" "0000348062" "0" "70" "2" "32366978" "32366978" "subst" "0" "02327" "SPAST_000110" "g.32366978T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32141909T>G" "" "likely pathogenic" "" "0000348389" "0" "50" "2" "32288998" "32288998" "subst" "2.78966E-5" "02327" "SPAST_000027" "g.32288998C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32063929C>T" "" "VUS" "" "0000348405" "0" "90" "2" "32341265" "32341265" "subst" "0" "02327" "SPAST_000059" "g.32341265C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32116196C>T" "" "pathogenic" "" "0000348421" "0" "90" "2" "32352066" "32352066" "subst" "0" "02327" "SPAST_000063" "g.32352066C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32126997C>A" "" "pathogenic" "" "0000348982" "0" "90" "2" "32353499" "32353499" "subst" "0" "02327" "SPAST_000073" "g.32353499C>T" "" "" "" "SPAST(NM_014946.4):c.1196C>T (p.S399L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32128430C>T" "" "pathogenic" "" "0000348995" "0" "50" "2" "32353523" "32353523" "subst" "0" "02327" "SPAST_000076" "g.32353523G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32128454G>A" "" "VUS" "" "0000348996" "0" "90" "2" "32353541" "32353541" "subst" "0" "02327" "SPAST_000078" "g.32353541C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32128472C>A" "" "pathogenic" "" "0000349021" "0" "30" "2" "32289031" "32289031" "subst" "0.00461084" "02327" "SPAST_000017" "g.32289031C>T" "" "" "" "SPAST(NM_014946.3):c.131C>T (p.S44L), SPAST(NM_014946.4):c.131C>T (p.(Ser44Leu), p.S44L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32063962C>T" "" "likely benign" "" "0000349477" "0" "50" "2" "32352023" "32352023" "subst" "0" "02327" "SPAST_000060" "g.32352023A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32126954A>C" "" "VUS" "" "0000349490" "0" "90" "2" "32352084" "32352084" "subst" "0" "02327" "SPAST_000064" "g.32352084C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32127015C>A" "" "pathogenic" "" "0000350122" "0" "90" "2" "32289053" "32289053" "subst" "0" "02327" "SPAST_000031" "g.32289053C>G" "" "" "" "SPAST(NM_014946.4):c.153C>G (p.Y51*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32063984C>G" "" "pathogenic" "" "0000350331" "0" "10" "2" "32312629" "32312629" "subst" "0.0020718" "02327" "SPAST_000038" "g.32312629G>A" "" "" "" "SPAST(NM_014946.3):c.484G>A (p.V162I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32087560G>A" "" "benign" "" "0000350503" "0" "90" "2" "32341255" "32341255" "subst" "0" "02327" "SPAST_000058" "g.32341255G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32116186G>T" "" "pathogenic" "" "0000350524" "0" "50" "2" "32353487" "32353487" "subst" "0" "02327" "SPAST_000072" "g.32353487T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32128418T>A" "" "VUS" "" "0000350563" "0" "50" "2" "32362208" "32362208" "subst" "0" "02327" "SPAST_000098" "g.32362208G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32137139G>A" "" "VUS" "" "0000350747" "0" "90" "2" "32353475" "32353475" "subst" "0" "02327" "SPAST_000070" "g.32353475A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32128406A>C" "" "pathogenic" "" "0000351108" "0" "30" "2" "32312667" "32312667" "subst" "0" "02327" "SPAST_000040" "g.32312667T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32087598T>C" "" "likely benign" "" "0000351109" "0" "50" "2" "32340804" "32340804" "subst" "0" "02327" "SPAST_000048" "g.32340804T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32115735T>G" "" "VUS" "" "0000351111" "0" "70" "2" "32353553" "32353553" "subst" "0" "02327" "SPAST_000082" "g.32353553G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32128484G>C" "" "likely pathogenic" "" "0000351112" "0" "50" "2" "32361944" "32361944" "subst" "0" "02327" "SPAST_000089" "g.32361944A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32136875A>C" "" "VUS" "" "0000351113" "0" "90" "2" "32372328" "32372328" "subst" "0" "02327" "SPAST_000121" "g.32372328G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32147259G>A" "" "pathogenic" "" "0000369305" "0" "90" "2" "32288927" "32288927" "dup" "0" "01807" "SPAST_000131" "g.32288927dup" "" "" "" "27dupG" "" "Unknown" "" "" "0" "" "" "g.32063858dup" "" "pathogenic" "" "0000395148" "0" "70" "2" "32379499" "32379499" "subst" "0" "01807" "SPAST_000132" "g.32379499C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.32154430C>A" "" "likely pathogenic" "" "0000408407" "10" "90" "2" "32354574" "32374590" "del" "0" "02947" "SPAST_000133" "g.(32353549_32354574)_(32374590_32379442)del" "" "{PMID:Giugliano 2018:30373198}" "" "g.32354574_32374590del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437553" "0" "90" "2" "32312601" "32312605" "del" "0" "01807" "SPAST_000134" "g.32312601_32312605del" "" "" "" "456_460delTATTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32087532_32087536del" "" "pathogenic" "" "0000440133" "0" "70" "2" "32361693" "32361693" "subst" "0" "01164" "SPAST_000135" "g.32361693C>T" "" "" "" "" "ACMG grading: PP3,PM2,PM1,PP1; reported in Alvarez 2010. BMC Neurol 10: 89; Hentati 1994. Hum Mol Genet 3: 1867; Hentati 2000. Neurology 55: 1388; Shoukier European Journal of Human Genetics (2009) 17" "Germline" "" "" "0" "" "" "g.32136624C>T" "" "likely pathogenic" "ACMG" "0000454602" "0" "90" "2" "32340780" "32340780" "subst" "0" "01807" "SPAST_000136" "g.32340780A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.32115711A>T" "" "pathogenic" "" "0000470173" "0" "70" "2" "32352091" "32352091" "subst" "0" "01807" "SPAST_000067" "g.32352091G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.32127022G>A" "" "likely pathogenic" "" "0000472360" "0" "70" "2" "32361707" "32361707" "subst" "0" "01807" "SPAST_000137" "g.32361707G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.32136638G>T" "" "likely pathogenic" "" "0000515696" "0" "30" "2" "32289077" "32289077" "subst" "0" "01943" "SPAST_000138" "g.32289077A>G" "" "" "" "SPAST(NM_014946.3):c.177A>G (p.V59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32064008A>G" "" "likely benign" "" "0000515697" "0" "50" "2" "32314683" "32314686" "del" "0" "01943" "SPAST_000042" "g.32314683_32314686del" "" "" "" "SPAST(NM_014946.3):c.586+9_586+12delTAAT, SPAST(NM_014946.4):c.586+9_586+12delTAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32089614_32089617del" "" "VUS" "" "0000515698" "0" "90" "2" "32339831" "32339831" "subst" "0" "02327" "SPAST_000139" "g.32339831C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32114762C>A" "" "pathogenic" "" "0000515699" "0" "90" "2" "32340770" "32340770" "subst" "0" "02327" "SPAST_000140" "g.32340770G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32115701G>A" "" "pathogenic" "" "0000515700" "0" "10" "2" "32340779" "32340779" "subst" "0.00955131" "02330" "SPAST_000019" "g.32340779G>A" "" "" "" "SPAST(NM_014946.3):c.879G>A (p.P293=), SPAST(NM_014946.4):c.879G>A (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32115710G>A" "" "benign" "" "0000515701" "0" "50" "2" "32341193" "32341193" "subst" "0" "01943" "SPAST_000141" "g.32341193C>T" "" "" "" "SPAST(NM_014946.3):c.1010C>T (p.T337I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32116124C>T" "" "VUS" "" "0000515702" "0" "50" "2" "32341208" "32341208" "subst" "0" "02325" "SPAST_000142" "g.32341208A>T" "" "" "" "SPAST(NM_014946.4):c.1025A>T (p.D342V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32116139A>T" "" "VUS" "" "0000515703" "0" "70" "2" "32341268" "32341268" "subst" "0" "02325" "SPAST_000143" "g.32341268C>T" "" "" "" "SPAST(NM_014946.4):c.1085C>T (p.S362F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32116199C>T" "" "likely pathogenic" "" "0000515704" "0" "70" "2" "32341276" "32341276" "subst" "0" "02327" "SPAST_000144" "g.32341276C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32116207C>T" "" "likely pathogenic" "" "0000515705" "0" "50" "2" "32352056" "32352056" "subst" "0" "01943" "SPAST_000145" "g.32352056C>T" "" "" "" "SPAST(NM_014946.3):c.1138C>T (p.L380F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32126987C>T" "" "VUS" "" "0000515707" "0" "90" "2" "32352093" "32352093" "subst" "0" "02327" "SPAST_000147" "g.32352093T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32127024T>A" "" "pathogenic" "" "0000515708" "0" "30" "2" "32353548" "32353548" "subst" "4.06702E-6" "01943" "SPAST_000148" "g.32353548C>T" "" "" "" "SPAST(NM_014946.3):c.1245C>T (p.Y415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32128479C>T" "" "likely benign" "" "0000515709" "0" "90" "2" "32353552" "32353552" "subst" "0" "02327" "SPAST_000149" "g.32353552A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32128483A>G" "" "pathogenic" "" "0000515710" "0" "90" "2" "32361631" "32361631" "subst" "0" "02327" "SPAST_000150" "g.32361631G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32136562G>C" "" "pathogenic" "" "0000515711" "0" "70" "2" "32361656" "32361656" "subst" "0" "02327" "SPAST_000151" "g.32361656A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32136587A>T" "" "likely pathogenic" "" "0000515712" "0" "70" "2" "32362002" "32362002" "subst" "0" "02325" "SPAST_000092" "g.32362002C>T" "" "" "" "SPAST(NM_014946.3):c.1378C>T (p.R460C), SPAST(NM_014946.4):c.1378C>T (p.R460C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32136933C>T" "" "likely pathogenic" "" "0000515713" "0" "70" "2" "32362247" "32362247" "subst" "0" "02329" "SPAST_000152" "g.32362247G>C" "" "" "" "SPAST(NM_014946.4):c.1483G>C (p.A495P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32137178G>C" "" "likely pathogenic" "" "0000515714" "0" "90" "2" "32366949" "32366949" "subst" "0" "02327" "SPAST_000153" "g.32366949A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32141880A>G" "" "pathogenic" "" "0000515715" "0" "10" "2" "32366970" "32366970" "dup" "0" "02330" "SPAST_000154" "g.32366970dup" "" "" "" "SPAST(NM_014946.4):c.1494-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32141901dup" "" "benign" "" "0000515716" "0" "50" "2" "32368441" "32368441" "subst" "0" "02327" "SPAST_000155" "g.32368441C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32143372C>A" "" "VUS" "" "0000515717" "0" "90" "2" "32368485" "32368485" "subst" "0" "02327" "SPAST_000156" "g.32368485G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32143416G>A" "" "pathogenic" "" "0000579019" "20" "90" "2" "32288680" "32289316" "del" "0" "00006" "SPAST_000158" "g.(?_32288680)_(32289316_32312560)del" "" "{PMID:Beetz 2006:17035675}" "" "del ex1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000579020" "21" "90" "2" "32288680" "32314675" "del" "0" "00006" "SPAST_000159" "g.(?_32288680)_(32314675_32323864)del" "" "{PMID:Beetz 2006:17035675}" "" "del ex1-3" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000579021" "20" "90" "2" "32288680" "32341282" "del" "0" "00006" "SPAST_000160" "g.(?_32288680)_(32341282_32352016)del" "" "{PMID:Beetz 2006:17035675}" "" "del ex1-7" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000579022" "20" "90" "2" "32312560" "32339895" "del" "0" "00006" "SPAST_000161" "g.(32289316_32312560)_(32339895_32340770)del" "" "{PMID:Beetz 2006:17035675}" "" "del ex2-5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000579023" "21" "90" "2" "32339706" "32341282" "del" "0" "00006" "SPAST_000162" "g.(32323961_32339706)_(32341282_32352016)del" "" "{PMID:Beetz 2006:17035675}" "" "del ex5-7" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000579024" "21" "90" "2" "32339706" "32370077" "del" "0" "00006" "SPAST_000163" "g.(32323961_32339706)_(32370077_32372286)del" "" "{PMID:Beetz 2006:17035675}" "" "del ex5-15" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000579025" "21" "90" "2" "32339706" "32370077" "del" "0" "00006" "SPAST_000163" "g.(32323961_32339706)_(32370077_32372286)del" "" "{PMID:Beetz 2006:17035675}" "" "del ex5-15" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000579026" "20" "90" "2" "32340770" "32382706" "del" "0" "00006" "SPAST_000164" "g.(32339895_32340770)_(32382706_?)del" "" "{PMID:Beetz 2006:17035675}" "" "del ex6-17" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000579027" "20" "90" "2" "32361631" "32361708" "del" "0" "00006" "SPAST_000165" "g.(32353549_32361631)_(32361708_32361945)del" "" "{PMID:Beetz 2006:17035675}" "" "ex 10del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000579028" "20" "90" "2" "32361631" "32362258" "del" "0" "00006" "SPAST_000166" "g.(32353549_32361631)_(32362258_32366972)del" "" "{PMID:Beetz 2006:17035675}" "" "del ex10-12" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000579029" "21" "90" "2" "32366972" "32372328" "del" "0" "00006" "SPAST_000167" "g.(32362258_32366972)_(32372328_32379442)del" "" "{PMID:Beetz 2006:17035675}" "" "del ex13-16" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000579030" "21" "90" "2" "32379442" "32382706" "del" "0" "00006" "SPAST_000168" "g.(32372328_32379442)_(32382706_?)del" "" "{PMID:Beetz 2006:17035675}" "" "del ex16-17" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000579031" "21" "90" "2" "32379442" "32382706" "del" "0" "00006" "SPAST_000168" "g.(32372328_32379442)_(32382706_?)del" "" "{PMID:Beetz 2006:17035675}" "" "del ex17" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000593704" "0" "90" "2" "32362259" "32362262" "del" "0" "01164" "SPAST_000169" "g.32362259_32362262del" "" "" "" "" "ACMG grading: PS3,PM2,PVS1,PM1,PP3; reported in Burger 2000. Eur J Hum Genet 8: 771; Chelban 2017. J Neurol Neurosurg Psychiatry 88: 681; Chrestian 2017. Neurol Genet 3: e122" "Germline" "" "" "0" "" "" "g.32137190_32137193del" "" "pathogenic" "ACMG" "0000607905" "0" "90" "2" "32340882" "32340882" "dup" "0" "02327" "SPAST_000170" "g.32340882dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32115813dup" "" "pathogenic" "" "0000607906" "0" "50" "2" "32341249" "32341249" "subst" "0" "02327" "SPAST_000171" "g.32341249G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32116180G>A" "" "VUS" "" "0000607907" "0" "90" "2" "32353499" "32353499" "subst" "0" "02325" "SPAST_000073" "g.32353499C>T" "" "" "" "SPAST(NM_014946.4):c.1196C>T (p.S399L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32128430C>T" "" "pathogenic" "" "0000607908" "0" "90" "2" "32361677" "32361677" "subst" "0" "02327" "SPAST_000172" "g.32361677C>T" "" "" "" "SPAST(NM_014946.4):c.1291C>T (p.R431*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32136608C>T" "" "pathogenic" "" "0000607909" "0" "90" "2" "32361932" "32361932" "subst" "0" "02327" "SPAST_000173" "g.32361932T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32136863T>A" "" "pathogenic" "" "0000607910" "0" "50" "2" "32362008" "32362008" "subst" "0" "02327" "SPAST_000174" "g.32362008A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32136939A>G" "" "VUS" "" "0000607911" "0" "70" "2" "32362230" "32362230" "subst" "0" "01943" "SPAST_000175" "g.32362230C>A" "" "" "" "SPAST(NM_014946.3):c.1466C>A (p.P489Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32137161C>A" "" "likely pathogenic" "" "0000607912" "0" "70" "2" "32368478" "32368478" "subst" "0" "02326" "SPAST_000176" "g.32368478T>C" "" "" "" "SPAST(NM_014946.3):c.1610T>C (p.L537P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32143409T>C" "" "likely pathogenic" "" "0000626481" "0" "50" "2" "32340907" "32340907" "subst" "0" "01164" "SPAST_000177" "g.32340907A>C" "" "" "" "" "ACMG: PM2,PP3" "Germline" "" "" "0" "" "" "g.32115838A>C" "" "VUS" "ACMG" "0000650583" "1" "90" "2" "32362177" "32362177" "subst" "0" "03575" "SPAST_000179" "g.32362177G>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs786204163}" "Germline" "" "rs786204163" "0" "" "" "g.32137108G>C" "" "pathogenic" "" "0000650584" "1" "90" "2" "32362181" "32362181" "subst" "0.000105715" "03575" "SPAST_000180" "g.32362181C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs757130394}" "Germline" "" "rs757130394" "0" "" "" "g.32137112C>A" "" "pathogenic" "" "0000650585" "1" "30" "2" "32382578" "32382578" "subst" "0" "03575" "SPAST_000182" "g.32382578T>C" "25/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "25 heterozygous, no homozygous; {DB:CLININrs72796870}" "Germline" "" "rs72796870" "0" "" "" "g.32157509T>C" "" "likely benign" "" "0000653358" "3" "50" "2" "32379469" "32379469" "subst" "0" "01164" "SPAST_000181" "g.32379469C>A" "" "" "" "" "ACMG: PM2,PP1,PP3; suspicion of HSP, daughter slightly affected, brother slightly affected, father died at early age (accident)" "Germline" "" "" "0" "" "" "g.32154400C>A" "" "VUS" "ACMG" "0000653361" "0" "50" "2" "32289024" "32289024" "subst" "1.67501E-5" "01164" "SPAST_000178" "g.32289024C>A" "" "" "" "" "" "Germline" "" "rs367843598" "0" "" "" "g.32063955C>A" "" "VUS" "ACMG" "0000653478" "0" "50" "2" "32368469" "32368469" "subst" "0" "01164" "SPAST_000183" "g.32368469T>G" "" "" "" "" "ACMG: PM2,PM5,PP3" "Germline" "" "" "0" "" "" "g.32143400T>G" "" "VUS" "ACMG" "0000660282" "0" "70" "2" "32362232" "32362232" "subst" "0" "01164" "SPAST_000184" "g.32362232C>T" "" "" "" "" "ACMG grading: PVS1,PM2; Nielsen et al. 2004. Eur J Neurol 11: 817" "Germline" "" "" "0" "" "" "g.32137163C>T" "" "likely pathogenic" "ACMG" "0000664831" "0" "90" "2" "32353549" "32353549" "subst" "0" "01164" "SPAST_000081" "g.32353549G>A" "" "" "" "" "ACMG grading: PM2,PM3,PM5,PP3; Saenz et al. 2005. Brain 128: 732" "Germline" "" "rs875989878" "0" "" "" "g.32128480G>A" "" "pathogenic" "ACMG" "0000667559" "3" "70" "2" "32370023" "32370023" "subst" "0" "00006" "SPAST_000185" "g.32370023C>G" "" "{PMID:Helbig 2016:26795593}" "" "" "has VUS in GABRA1" "Germline" "" "" "0" "" "" "g.32144954C>G" "" "likely pathogenic (recessive)" "ACMG" "0000667631" "0" "70" "2" "32362009" "32362009" "subst" "0" "00006" "SPAST_000095" "g.32362009A>G" "" "{PMID:Waters 2019:31654490}" "" "" "" "De novo" "" "" "0" "" "" "g.32136940A>G" "" "likely pathogenic (dominant)" "" "0000676621" "0" "30" "2" "32312629" "32312629" "subst" "0.0020718" "01943" "SPAST_000038" "g.32312629G>A" "" "" "" "SPAST(NM_014946.3):c.484G>A (p.V162I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683631" "0" "90" "2" "32366975" "32366975" "subst" "0" "01164" "SPAST_000024" "g.32366975G>A" "" "Park et al. 2005. Arch Neurol 62: 1118; D´Amore et al. 2018. Front Neurol 9: 981; Gillespie et al. 2018. J Child Neurol 33: 329; Schieving et al. 2019. Brain 142: 31" "" "" "ACMG grading: PS4,PM1,PM2,PM5,PP3" "Germline" "" "rs878854991" "0" "" "" "" "" "pathogenic" "ACMG" "0000688746" "0" "10" "2" "32339698" "32339698" "subst" "0.00242182" "02327" "SPAST_000186" "g.32339698C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688747" "0" "50" "2" "32341193" "32341193" "subst" "0" "02327" "SPAST_000141" "g.32341193C>T" "" "" "" "SPAST(NM_014946.3):c.1010C>T (p.T337I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693925" "0" "90" "2" "32353506" "32353506" "del" "0" "01807" "SPAST_000187" "g.32353506del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000712631" "0" "70" "2" "32340878" "32340879" "ins" "0" "01164" "SPAST_000188" "g.32340878_32340879insA" "" "" "" "" "ACMG; PVS1, PM2: class 4" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000718749" "0" "90" "2" "32289065" "32289065" "subst" "0" "02327" "SPAST_000189" "g.32289065C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718750" "0" "70" "2" "32361636" "32361636" "subst" "0" "02329" "SPAST_000190" "g.32361636G>A" "" "" "" "SPAST(NM_014946.4):c.1250G>A (p.G417E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718751" "0" "90" "2" "32362002" "32362002" "subst" "0" "02326" "SPAST_000092" "g.32362002C>T" "" "" "" "SPAST(NM_014946.3):c.1378C>T (p.R460C), SPAST(NM_014946.4):c.1378C>T (p.R460C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000784068" "0" "70" "2" "32362035" "32362035" "subst" "0" "01807" "SPAST_000191" "g.32362035G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000788904" "0" "70" "2" "32362223" "32362223" "subst" "0" "00006" "SPAST_000192" "g.32362223A>C" "" "{PMID:Srivastava 2014:25131622}" "" "" "" "De novo" "" "" "0" "" "" "g.32137154A>C" "" "likely pathogenic" "" "0000790984" "0" "50" "2" "32341217" "32341217" "subst" "0" "01164" "SPAST_000193" "g.32341217C>G" "" "" "" "" "ACMG: PM1, PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000800579" "0" "70" "2" "32288998" "32288998" "del" "0" "01943" "SPAST_000194" "g.32288998del" "" "" "" "SPAST(NM_014946.3):c.98delC (p.P33Lfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800580" "0" "50" "2" "32339736" "32339736" "subst" "3.65565E-5" "01943" "SPAST_000195" "g.32339736C>A" "" "" "" "SPAST(NM_014946.3):c.712C>A (p.P238T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800581" "0" "90" "2" "32353549" "32353549" "subst" "0" "02327" "SPAST_000196" "g.32353549G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800582" "0" "90" "2" "32366957" "32366957" "subst" "0" "02327" "SPAST_000197" "g.32366957G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800583" "0" "50" "2" "32368461" "32368461" "subst" "0" "02325" "SPAST_000198" "g.32368461A>T" "" "" "" "SPAST(NM_014946.4):c.1593A>T (p.Q531H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000813613" "0" "70" "2" "32370068" "32370068" "subst" "0" "04181" "SPAST_000199" "g.32370068C>T" "" "" "" "g.86389C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000828439" "0" "50" "2" "32379453" "32379453" "subst" "0" "01164" "SPAST_000200" "g.32379453T>A" "" "" "" "" "ACMG: PM1, PM2_SUP, PP2" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000847169" "11" "90" "2" "32353549" "32353549" "subst" "0" "00006" "SPAST_000081" "g.32353549G>A" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "g.32128480G>A" "" "pathogenic" "" "0000849865" "0" "30" "2" "32289034" "32289034" "subst" "0.000397387" "01943" "SPAST_000201" "g.32289034C>A" "" "" "" "SPAST(NM_014946.3):c.134C>A (p.P45Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849866" "0" "50" "2" "32362243" "32362243" "subst" "0" "01943" "SPAST_000203" "g.32362243T>A" "" "" "" "SPAST(NM_014946.3):c.1479T>A (p.D493E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849867" "0" "50" "2" "32370014" "32370014" "subst" "0.000458411" "01943" "SPAST_000114" "g.32370014A>G" "" "" "" "SPAST(NM_014946.3):c.1625A>G (p.D542G, p.(Asp542Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849868" "0" "90" "2" "32372328" "32372328" "subst" "0" "02327" "SPAST_000204" "g.32372328G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858508" "0" "50" "2" "32289130" "32289130" "subst" "0" "02327" "SPAST_000202" "g.32289130G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858509" "0" "70" "2" "32353499" "32353499" "subst" "0" "02329" "SPAST_000073" "g.32353499C>T" "" "" "" "SPAST(NM_014946.4):c.1196C>T (p.S399L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858510" "0" "30" "2" "32379521" "32379521" "subst" "4.06712E-6" "01943" "SPAST_000205" "g.32379521G>T" "" "" "" "SPAST(NM_014946.3):c.1807G>T (p.A603S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874569" "0" "50" "2" "32368389" "32368401" "del" "0" "03779" "SPAST_000206" "g.32368389_32368401del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000881158" "11" "90" "2" "32353553" "32353553" "subst" "0" "02300" "SPAST_000207" "g.32353553G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP3, PP4, PP5" "Germline" "" "rs121908515" "0" "" "" "g.32128484G>A" "" "pathogenic (dominant)" "ACMG" "0000881270" "11" "90" "2" "32379495" "32379495" "del" "0" "02300" "SPAST_000209" "g.32379495del" "" "{PMID:Marinakis 2021:34008892}" "" "c.1781delG" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.32154426del" "" "pathogenic (dominant)" "ACMG" "0000881271" "0" "70" "2" "32368475" "32368477" "del" "0" "02300" "SPAST_000208" "g.32368475_32368477del" "" "{PMID:Marinakis 2021:34008892}" "" "c.1607_1609delAAC" "ACMG PM1, PM2, PM4, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.32143406_32143408del" "" "likely pathogenic (dominant)" "ACMG" "0000881341" "21" "50" "2" "32289031" "32289031" "subst" "0.00461084" "02300" "SPAST_000017" "g.32289031C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "modifier polymorphism" "Germline" "" "rs1553317049" "0" "" "" "g.32063962C>T" "" "VUS (!)" "ACMG" "0000885133" "0" "50" "2" "32312597" "32312597" "subst" "0" "02325" "SPAST_000210" "g.32312597A>C" "" "" "" "SPAST(NM_014946.4):c.452A>C (p.K151T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885134" "0" "90" "2" "32341186" "32341186" "subst" "0" "02327" "SPAST_000211" "g.32341186A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885135" "0" "30" "2" "32362275" "32362275" "subst" "0.00290736" "02325" "SPAST_000105" "g.32362275G>T" "" "" "" "SPAST(NM_014946.3):c.1493+18G>T (p.?), SPAST(NM_014946.4):c.1493+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885136" "0" "50" "2" "32370053" "32370053" "subst" "0" "02327" "SPAST_000212" "g.32370053A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908900" "0" "70" "2" "32372286" "32372328" "dup" "0" "00006" "SPAST_000214" "g.(32370077_32372286)_(32372328_32379442)dup" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000908920" "0" "50" "2" "32353477" "32353477" "subst" "0" "00006" "SPAST_000213" "g.32353477G>C" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32128408G>C" "" "VUS" "" "0000911690" "0" "30" "2" "32314683" "32314686" "del" "0" "02325" "SPAST_000042" "g.32314683_32314686del" "" "" "" "SPAST(NM_014946.3):c.586+9_586+12delTAAT, SPAST(NM_014946.4):c.586+9_586+12delTAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911691" "0" "90" "2" "32352087" "32352087" "subst" "0" "02327" "SPAST_000215" "g.32352087T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911692" "0" "30" "2" "32362263" "32362263" "subst" "8.9428E-5" "02327" "SPAST_000216" "g.32362263G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911693" "0" "70" "2" "32368408" "32368408" "subst" "0" "02325" "SPAST_000217" "g.32368408A>G" "" "" "" "SPAST(NM_014946.4):c.1540A>G (p.R514G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923685" "0" "50" "2" "32323909" "32323909" "subst" "2.84368E-5" "02329" "SPAST_000218" "g.32323909G>A" "" "" "" "SPAST(NM_014946.4):c.631G>A (p.V211I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923686" "0" "50" "2" "32370058" "32370058" "subst" "0" "02325" "SPAST_000219" "g.32370058G>C" "" "" "" "SPAST(NM_014946.4):c.1669G>C (p.A557P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923687" "0" "30" "2" "32379449" "32379449" "subst" "0.000366464" "02325" "SPAST_000025" "g.32379449A>C" "" "" "" "SPAST(NM_014946.3):c.1735A>C (p.N579H), SPAST(NM_014946.4):c.1735A>C (p.N579H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927602" "0" "70" "2" "32362254" "32362254" "subst" "0" "01709" "SPAST_000220" "g.32362254T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32137185T>C" "" "likely pathogenic (dominant)" "ACMG" "0000947830" "0" "30" "2" "32362275" "32362275" "subst" "0.00290736" "02326" "SPAST_000105" "g.32362275G>T" "" "" "" "SPAST(NM_014946.3):c.1493+18G>T (p.?), SPAST(NM_014946.4):c.1493+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947831" "0" "90" "2" "32366993" "32366994" "del" "0" "02325" "SPAST_000221" "g.32366993_32366994del" "" "" "" "SPAST(NM_014946.4):c.1514_1515delAT (p.Y505Cfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947832" "0" "70" "2" "32379551" "32379551" "subst" "0" "02329" "SPAST_000222" "g.32379551G>A" "" "" "" "SPAST(NM_014946.4):c.1837G>A (p.D613N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000962076" "0" "50" "2" "32361641" "32361641" "subst" "0" "02329" "SPAST_000223" "g.32361641G>A" "" "" "" "SPAST(NM_014946.4):c.1255G>A (p.G419R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975222" "0" "50" "2" "32288923" "32288923" "subst" "0" "01804" "SPAST_000224" "g.32288923G>A" "" "" "" "SPAST(NM_014946.4):c.23G>A (p.(Gly8Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975223" "0" "90" "2" "32289053" "32289053" "subst" "0" "02329" "SPAST_000031" "g.32289053C>G" "" "" "" "SPAST(NM_014946.4):c.153C>G (p.Y51*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975224" "0" "30" "2" "32314683" "32314686" "del" "0" "02326" "SPAST_000042" "g.32314683_32314686del" "" "" "" "SPAST(NM_014946.3):c.586+9_586+12delTAAT, SPAST(NM_014946.4):c.586+9_586+12delTAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975225" "0" "50" "2" "32370014" "32370014" "subst" "0.000458411" "01804" "SPAST_000114" "g.32370014A>G" "" "" "" "SPAST(NM_014946.3):c.1625A>G (p.D542G, p.(Asp542Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000986093" "21" "90" "2" "32340909" "32340909" "subst" "4.09732E-6" "00006" "SPAST_000225" "g.32340909G>A" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32115840G>A" "" "pathogenic (dominant)" "" "0000986976" "0" "70" "2" "32352084" "32352084" "subst" "0" "00006" "SPAST_000064" "g.32352084C>A" "" "{PMID:Chen 2024:38756899}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.32127015C>A" "" "likely pathogenic (dominant)" "ACMG" "0000992811" "0" "50" "2" "32323943" "32323943" "subst" "1.21872E-5" "01804" "SPAST_000226" "g.32323943A>G" "" "" "" "SPAST(NM_014946.3):c.665A>G (p.(Asn222Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992812" "0" "30" "2" "32340795" "32340795" "subst" "0" "01804" "SPAST_000227" "g.32340795A>C" "" "" "" "SPAST(NM_014946.3):c.895A>C (p.(Asn299His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992813" "0" "50" "2" "32353477" "32353477" "subst" "0" "01804" "SPAST_000213" "g.32353477G>C" "" "" "" "SPAST(NM_014946.3):c.1174G>C (p.(Ala392Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992814" "0" "30" "2" "32361683" "32361683" "subst" "0" "01804" "SPAST_000228" "g.32361683C>T" "" "" "" "SPAST(NM_014946.3):c.1297C>T (p.(Leu433Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992815" "0" "30" "2" "32362275" "32362275" "subst" "0.00290736" "01804" "SPAST_000105" "g.32362275G>T" "" "" "" "SPAST(NM_014946.3):c.1493+18G>T (p.?), SPAST(NM_014946.4):c.1493+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011933" "0" "90" "2" "32362223" "32362223" "subst" "0" "00006" "SPAST_000230" "g.32362223A>G" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.32137154A>G" "VCV000521854.1" "pathogenic" "" "0001011963" "0" "90" "2" "32361944" "32361944" "subst" "0" "00006" "SPAST_000229" "g.32361944A>G" "" "{PMID:Salinas 2020:33084218}" "" "NM_199436:c.1226-2A>G" "" "Unknown" "" "" "0" "" "" "g.32136875A>G" "SUB7803058" "pathogenic" "" "0001013723" "0" "50" "2" "32312595" "32312595" "subst" "0" "02325" "SPAST_000231" "g.32312595G>T" "" "" "" "SPAST(NM_014946.4):c.450G>T (p.K150N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033286" "0" "10" "2" "32289031" "32289031" "subst" "0.00461084" "01804" "SPAST_000017" "g.32289031C>T" "" "" "" "SPAST(NM_014946.3):c.131C>T (p.S44L), SPAST(NM_014946.4):c.131C>T (p.(Ser44Leu), p.S44L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001033287" "0" "90" "2" "32361677" "32361677" "subst" "0" "02325" "SPAST_000172" "g.32361677C>T" "" "" "" "SPAST(NM_014946.4):c.1291C>T (p.R431*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045829" "0" "50" "2" "32289066" "32289074" "del" "0" "02325" "SPAST_000232" "g.32289066_32289074del" "" "" "" "SPAST(NM_014946.4):c.166_174delCCGCTGTTT (p.P56_F58del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SPAST ## Count = 234 "{{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}}" "0000067188" "00024039" "70" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Gln144*)" "2" "0000067189" "00024039" "70" "575" "0" "575" "0" "c.575T>A" "r.(?)" "p.(Leu192*)" "3" "0000067190" "00024039" "50" "1508" "0" "1508" "0" "c.1508G>C" "r.(?)" "p.(Arg503Pro)" "13" "0000067191" "00024039" "70" "1687" "1" "1687" "1" "c.1687+1dup" "r.spl?" "p.?" "15i" "0000075860" "00024039" "70" "1536" "0" "1536" "0" "c.1536G>C" "r.(spl?)" "p.(Glu512Asp)" "13" "0000075861" "00024039" "50" "1322" "0" "1322" "0" "c.1322A>T" "r.(spl?)" "p.(Asp441Val)" "11" "0000075862" "00024039" "57" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Gln473*)" "12" "0000086632" "00024039" "70" "1494" "-1115" "1728" "625" "c.1494-1115_1728+625delinsNC_000006.12:g.117393-117647inv" "r.1494_1728del" "p.?" "12i_16i" "0000087420" "00024039" "50" "1494" "-1116" "1494" "-1115" "c.1494-1116_1494-1115ins(AluYb8)ins1494-1131_1494-1116" "r.?" "p.?" "12i" "0000088192" "00024039" "70" "1246" "-155" "1494" "-1132" "c.1246-155_1494-1132delinsCCACCGCGCCCGGCC" "r.1246_1493del" "p.?" "9i_12i" "0000129953" "00024039" "50" "1691" "0" "1696" "0" "c.1691_1696del" "r.(?)" "p.(Leu564_Lys565del)" "16" "0000147087" "00024039" "99" "1246" "-745" "1321" "68" "c.1246-745_1321+68del" "r.(?)" "p.(Val416Metfs*21)" "10" "0000147088" "00024039" "99" "1246" "-745" "1321" "68" "c.[1246-745_1321+68del;1321+114A>G]" "r.?" "p.?" "10" "0000147089" "00024039" "99" "1246" "-745" "1321" "68" "c.[1246-745_1321+68del;1321+114A>G]" "r.?" "p.?" "10" "0000169467" "00024039" "90" "1385" "0" "1389" "0" "c.1385_1389del" "r.(?)" "p.(Lys462Argfs*7)" "11" "0000237846" "00024039" "90" "267" "0" "267" "0" "c.267dup" "r.(?)" "p.(Lys90Glnfs*46)" "" "0000241254" "00024039" "90" "783" "0" "783" "0" "c.783dup" "r.(?)" "p.(Gly262Argfs*4)" "" "0000252663" "00024039" "50" "1361" "0" "1361" "0" "c.1361A>C" "r.(?)" "p.(Glu454Ala)" "" "0000256402" "00024039" "50" "1735" "0" "1735" "0" "c.1735A>C" "r.(?)" "p.(Asn579His)" "" "0000256538" "00024039" "50" "547" "0" "547" "0" "c.547A>G" "r.(?)" "p.(Thr183Ala)" "" "0000296120" "00024039" "10" "1494" "-3" "1494" "-3" "c.1494-3del" "r.spl?" "p.?" "" "0000298444" "00024039" "30" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Ser44Leu)" "" "0000299678" "00024039" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Arg499His)" "" "0000302407" "00024039" "70" "1174" "0" "1174" "0" "c.1174del" "r.(?)" "p.(Ala392LeufsTer4)" "" "0000302408" "00024039" "30" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Ser44Leu)" "" "0000302409" "00024039" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Arg499His)" "" "0000302410" "00024039" "10" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Pro293=)" "" "0000336857" "00024039" "90" "1729" "-2" "1729" "-2" "c.1729-2A>T" "r.spl?" "p.?" "" "0000337704" "00024039" "30" "-7" "0" "-7" "0" "c.-7G>A" "r.(?)" "p.(=)" "" "0000337706" "00024039" "90" "1005" "-6" "1005" "-6" "c.1005-6T>A" "r.(=)" "p.(=)" "" "0000337710" "00024039" "10" "1413" "39" "1413" "40" "c.1413+39_1413+40insATAT" "r.(=)" "p.(=)" "" "0000337711" "00024039" "90" "1493" "2" "1493" "2" "c.1493+2T>G" "r.spl?" "p.?" "" "0000337712" "00024039" "30" "1493" "18" "1493" "18" "c.1493+18G>T" "r.(=)" "p.(=)" "" "0000337713" "00024039" "90" "1616" "4" "1616" "4" "c.1616+4A>T" "r.spl?" "p.?" "" "0000337714" "00024039" "90" "1688" "-2" "1688" "-2" "c.1688-2A>G" "r.spl?" "p.?" "" "0000337715" "00024039" "90" "1729" "-1" "1729" "-1" "c.1729-1G>C" "r.spl?" "p.?" "" "0000338967" "00024039" "90" "1173" "1" "1173" "1" "c.1173+1G>A" "r.spl?" "p.?" "" "0000339139" "00024039" "70" "1466" "0" "1466" "0" "c.1466C>T" "r.(?)" "p.(Pro489Leu)" "" "0000339187" "00024039" "50" "1849" "0" "1849" "0" "c.1849T>A" "r.(?)" "p.(Ter617LysextTer46)" "" "0000339194" "00024039" "30" "1173" "17" "1173" "17" "c.1173+17A>C" "r.(=)" "p.(=)" "" "0000339823" "00024039" "10" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Ala39=)" "" "0000339824" "00024039" "30" "123" "0" "123" "0" "c.123G>T" "r.(?)" "p.(Pro41=)" "" "0000339825" "00024039" "30" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Ala102=)" "" "0000339826" "00024039" "30" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Pro293=)" "" "0000339827" "00024039" "70" "1173" "0" "1173" "0" "c.1173G>A" "r.(?)" "p.(Leu391=)" "" "0000341387" "00024039" "50" "1048" "0" "1048" "0" "c.1048G>C" "r.(?)" "p.(Ala350Pro)" "" "0000341421" "00024039" "90" "1174" "0" "1174" "0" "c.1174del" "r.(?)" "p.(Ala392LeufsTer4)" "" "0000341430" "00024039" "90" "1226" "0" "1226" "0" "c.1226C>T" "r.(?)" "p.(Ala409Val)" "" "0000342941" "00024039" "90" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Arg460Cys)" "" "0000342943" "00024039" "50" "1379" "0" "1379" "0" "c.1379G>A" "r.(?)" "p.(Arg460His)" "" "0000342944" "00024039" "70" "1378" "0" "1378" "0" "c.1378C>A" "r.(?)" "p.(Arg460Ser)" "" "0000343018" "00024039" "90" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Cys)" "" "0000343019" "00024039" "90" "1495" "0" "1496" "0" "c.1495_1496insT" "r.(?)" "p.(Arg499LeufsTer13)" "" "0000343020" "00024039" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Arg499His)" "" "0000343110" "00024039" "90" "1685" "0" "1685" "0" "c.1685G>A" "r.(?)" "p.(Arg562Gln)" "" "0000343132" "00024039" "90" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Arg581Ter)" "" "0000343708" "00024039" "70" "955" "0" "955" "0" "c.955A>T" "r.(?)" "p.(Asn319Tyr)" "" "0000343788" "00024039" "30" "1735" "0" "1735" "0" "c.1735A>C" "r.(?)" "p.(Asn579His)" "" "0000343801" "00024039" "50" "1824" "0" "1824" "0" "c.1824C>G" "r.(?)" "p.(Asn608Lys)" "" "0000344780" "00024039" "50" "1040" "0" "1040" "0" "c.1040A>G" "r.(?)" "p.(Gln347Arg)" "" "0000344901" "00024039" "90" "1702" "0" "1702" "0" "c.1702C>T" "r.(?)" "p.(Gln568Ter)" "" "0000345421" "00024039" "90" "1326" "0" "1326" "0" "c.1326A>T" "r.(?)" "p.(Glu442Asp)" "" "0000345427" "00024039" "70" "1361" "0" "1361" "0" "c.1361A>C" "r.(?)" "p.(Glu454Ala)" "" "0000345648" "00024039" "90" "328" "0" "340" "0" "c.328_340del" "r.(?)" "p.(Gly110SerfsTer47)" "" "0000346106" "00024039" "70" "1450" "0" "1450" "0" "c.1450G>C" "r.(?)" "p.(Gly484Arg)" "" "0000346772" "00024039" "70" "1775" "0" "1775" "0" "c.1775T>A" "r.(?)" "p.(Ile592Lys)" "" "0000346773" "00024039" "50" "1775" "0" "1775" "0" "c.1775T>C" "r.(?)" "p.(Ile592Thr)" "" "0000346972" "00024039" "50" "583" "0" "583" "0" "c.583C>G" "r.(?)" "p.(Leu195Val)" "" "0000347115" "00024039" "50" "1045" "0" "1045" "0" "c.1045T>G" "r.(?)" "p.(Leu349Val)" "" "0000347116" "00024039" "90" "1061" "0" "1061" "0" "c.1061T>A" "r.(?)" "p.(Leu354Ter)" "" "0000347128" "00024039" "50" "1133" "0" "1133" "0" "c.1133T>G" "r.(?)" "p.(Leu378Arg)" "" "0000347162" "00024039" "90" "1266" "0" "1266" "0" "c.1266G>C" "r.(?)" "p.(Leu422Phe)" "" "0000347165" "00024039" "70" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Leu426Phe)" "" "0000347166" "00024039" "70" "1276" "0" "1276" "0" "c.1276C>G" "r.(?)" "p.(Leu426Val)" "" "0000347215" "00024039" "50" "1600" "0" "1600" "0" "c.1600C>G" "r.(?)" "p.(Leu534Val)" "" "0000347381" "00024039" "90" "361" "0" "361" "0" "c.361A>T" "r.(?)" "p.(Lys121Ter)" "" "0000347562" "00024039" "70" "1242" "0" "1242" "0" "c.1242A>G" "r.(?)" "p.(Lys414=)" "" "0000347578" "00024039" "50" "1385" "0" "1385" "0" "c.1385A>G" "r.(?)" "p.(Lys462Arg)" "" "0000347829" "00024039" "90" "1169" "0" "1169" "0" "c.1169T>G" "r.(?)" "p.(Met390Arg)" "" "0000347831" "00024039" "50" "1170" "0" "1170" "0" "c.1170G>A" "r.(?)" "p.(Met390Ile)" "" "0000347849" "00024039" "70" "1449" "0" "1449" "0" "c.1449G>T" "r.(?)" "p.(Met483Ile)" "" "0000347850" "00024039" "50" "1448" "0" "1448" "0" "c.1448T>C" "r.(?)" "p.(Met483Thr)" "" "0000348045" "00024039" "50" "1279" "0" "1279" "0" "c.1279T>C" "r.(?)" "p.(Phe427Leu)" "" "0000348062" "00024039" "70" "1499" "0" "1499" "0" "c.1499T>G" "r.(?)" "p.(Phe500Cys)" "" "0000348389" "00024039" "50" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Pro33Leu)" "" "0000348405" "00024039" "90" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Pro361Leu)" "" "0000348421" "00024039" "90" "1148" "0" "1148" "0" "c.1148C>A" "r.(?)" "p.(Pro383Gln)" "" "0000348982" "00024039" "90" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Ser399Leu)" "" "0000348995" "00024039" "50" "1220" "0" "1220" "0" "c.1220G>A" "r.(?)" "p.(Ser407Asn)" "" "0000348996" "00024039" "90" "1238" "0" "1238" "0" "c.1238C>A" "r.(?)" "p.(Ser413Ter)" "" "0000349021" "00024039" "30" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Ser44Leu)" "" "0000349477" "00024039" "50" "1105" "0" "1105" "0" "c.1105A>C" "r.(?)" "p.(Thr369Pro)" "" "0000349490" "00024039" "90" "1166" "0" "1166" "0" "c.1166C>A" "r.(?)" "p.(Thr389Lys)" "" "0000350122" "00024039" "90" "153" "0" "153" "0" "c.153C>G" "r.(?)" "p.(Tyr51Ter)" "" "0000350331" "00024039" "10" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Val162Ile)" "" "0000350503" "00024039" "90" "1072" "0" "1072" "0" "c.1072G>T" "r.(?)" "p.(Val358Phe)" "" "0000350524" "00024039" "50" "1184" "0" "1184" "0" "c.1184T>A" "r.(?)" "p.(Val395Glu)" "" "0000350563" "00024039" "50" "1444" "0" "1444" "0" "c.1444G>A" "r.(?)" "p.(Val482Ile)" "" "0000350747" "00024039" "90" "1174" "-2" "1174" "-2" "c.1174-2A>C" "r.spl?" "p.?" "" "0000351108" "00024039" "30" "502" "20" "502" "20" "c.502+20T>C" "r.(=)" "p.(=)" "" "0000351109" "00024039" "50" "904" "0" "904" "0" "c.904T>G" "r.(?)" "p.(Ser302Ala)" "" "0000351111" "00024039" "70" "1245" "5" "1245" "5" "c.1245+5G>C" "r.spl?" "p.?" "" "0000351112" "00024039" "50" "1322" "-2" "1322" "-2" "c.1322-2A>C" "r.spl?" "p.?" "" "0000351113" "00024039" "90" "1728" "1" "1728" "1" "c.1728+1G>A" "r.spl?" "p.?" "" "0000369305" "00024039" "90" "27" "0" "27" "0" "c.27dup" "r.(?)" "p.(Lys10Glufs*38)" "" "0000395148" "00024039" "70" "1785" "0" "1785" "0" "c.1785C>A" "r.(?)" "p.(Ser595Arg)" "" "0000408407" "00024039" "90" "1245" "1026" "1728" "2263" "c.(1245+1_1245+1026)_(1728+2263_1729-1)del" "r.?" "p.(Val416_Glu576del)" "9i_16i" "0000437553" "00024039" "90" "456" "0" "460" "0" "c.456_460del" "r.(?)" "p.(Ile153Argfs*15)" "" "0000440133" "00024039" "70" "1307" "0" "1307" "0" "c.1307C>T" "r.(?)" "p.Ser436Phe" "" "0000454602" "00024039" "90" "880" "0" "880" "0" "c.880A>T" "r.(?)" "p.(Lys294*)" "" "0000470173" "00024039" "70" "1173" "0" "1173" "0" "c.1173G>A" "r.spl?" "p.(Leu391=)" "" "0000472360" "00024039" "70" "1321" "0" "1321" "0" "c.1321G>T" "r.(?)" "p.(Asp441Tyr)" "" "0000515696" "00024039" "30" "177" "0" "177" "0" "c.177A>G" "r.(?)" "p.(Val59=)" "" "0000515697" "00024039" "50" "586" "9" "586" "12" "c.586+9_586+12del" "r.(=)" "p.(=)" "" "0000515698" "00024039" "90" "807" "0" "807" "0" "c.807C>A" "r.(?)" "p.(Tyr269Ter)" "" "0000515699" "00024039" "90" "871" "-1" "871" "-1" "c.871-1G>A" "r.spl?" "p.?" "" "0000515700" "00024039" "10" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Pro293=)" "" "0000515701" "00024039" "50" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Thr337Ile)" "" "0000515702" "00024039" "50" "1025" "0" "1025" "0" "c.1025A>T" "r.(?)" "p.(Asp342Val)" "" "0000515703" "00024039" "70" "1085" "0" "1085" "0" "c.1085C>T" "r.(?)" "p.(Ser362Phe)" "" "0000515704" "00024039" "70" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Pro365Ser)" "" "0000515705" "00024039" "50" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Leu380Phe)" "" "0000515707" "00024039" "90" "1173" "2" "1173" "2" "c.1173+2T>A" "r.spl?" "p.?" "" "0000515708" "00024039" "30" "1245" "0" "1245" "0" "c.1245C>T" "r.(?)" "p.(Tyr415=)" "" "0000515709" "00024039" "90" "1245" "4" "1245" "4" "c.1245+4A>G" "r.spl?" "p.?" "" "0000515710" "00024039" "90" "1246" "-1" "1246" "-1" "c.1246-1G>C" "r.spl?" "p.?" "" "0000515711" "00024039" "70" "1270" "0" "1270" "0" "c.1270A>T" "r.(?)" "p.(Arg424Trp)" "" "0000515712" "00024039" "70" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Arg460Cys)" "" "0000515713" "00024039" "70" "1483" "0" "1483" "0" "c.1483G>C" "r.(?)" "p.(Ala495Pro)" "" "0000515714" "00024039" "90" "1494" "-24" "1494" "-24" "c.1494-24A>G" "r.(=)" "p.(=)" "" "0000515715" "00024039" "10" "1494" "-3" "1494" "-3" "c.1494-3dup" "r.spl?" "p.?" "" "0000515716" "00024039" "50" "1573" "0" "1573" "0" "c.1573C>A" "r.(?)" "p.(Gln525Lys)" "" "0000515717" "00024039" "90" "1616" "1" "1616" "1" "c.1616+1G>A" "r.spl?" "p.?" "" "0000579019" "00024039" "90" "-221" "0" "415" "1" "c.(?_-221)_(415+1_416-1)del" "r.0?" "p.0?" "_1_1i" "0000579020" "00024039" "90" "-221" "0" "586" "1" "c.(?_-221)_(586+1_587-1)del" "r.0?" "p.0?" "_1_3i" "0000579021" "00024039" "90" "-221" "0" "1098" "1" "c.(?_-221)_(1098+1_1099-1)del" "r.0?" "p.0?" "_1_7i" "0000579022" "00024039" "90" "416" "-1" "870" "1" "c.(415+1_416-1)_(870+1_871-1)del" "r.?" "p.?" "1i_5i" "0000579023" "00024039" "90" "683" "-1" "1098" "1" "c.(682+1_683-1)_(1098+1_1099-1)del" "r.?" "p.?" "4i_7i" "0000579024" "00024039" "90" "683" "-1" "1687" "1" "c.(682+1_683-1)_(1687+1_1688-1)del" "r.?" "p.?" "4i_15i" "0000579025" "00024039" "90" "683" "-1" "1687" "1" "c.(682+1_683-1)_(1687+1_1688-1)del" "r.?" "p.?" "4i_15i" "0000579026" "00024039" "90" "871" "-1" "4992" "0" "c.(870+1_871-1)_(*3141_?)del" "r.?" "p.?" "5i_17_" "0000579027" "00024039" "90" "1246" "-1" "1321" "1" "c.(1245+1_1246-1)_(1321+1_1322-1)del" "r.?" "p.?" "9i_10i" "0000579028" "00024039" "90" "1246" "-1" "1493" "1" "c.(1245+1_1246-1)_(1493+1_1494-1)del" "r.?" "p.?" "" "0000579029" "00024039" "90" "1494" "-1" "1728" "1" "c.(1493+1_1494-1)_(1728+1_1729-1)del" "r.?" "p.?" "12i_16i" "0000579030" "00024039" "90" "1729" "-1" "4992" "0" "c.(1728+1_1729-1)_(*3141_?)del" "r.?" "p.?" "15i_17_" "0000579031" "00024039" "90" "1729" "-1" "3141" "0" "c.(1728+1_1729-1)_(3141_?)del" "r.?" "p.?" "" "0000593704" "00024039" "90" "1493" "2" "1493" "5" "c.1493+2_1493+5del" "r.(?)" "p.(?)" "" "0000607905" "00024039" "90" "982" "0" "982" "0" "c.982dup" "r.(?)" "p.(Ile328AsnfsTer4)" "" "0000607906" "00024039" "50" "1066" "0" "1066" "0" "c.1066G>A" "r.(?)" "p.(Glu356Lys)" "" "0000607907" "00024039" "90" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Ser399Leu)" "" "0000607908" "00024039" "90" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Arg431Ter)" "" "0000607909" "00024039" "90" "1322" "-14" "1322" "-14" "c.1322-14T>A" "r.(=)" "p.(=)" "" "0000607910" "00024039" "50" "1384" "0" "1384" "0" "c.1384A>G" "r.(?)" "p.(Lys462Glu)" "" "0000607911" "00024039" "70" "1466" "0" "1466" "0" "c.1466C>A" "r.(?)" "p.(Pro489Gln)" "" "0000607912" "00024039" "70" "1610" "0" "1610" "0" "c.1610T>C" "r.(?)" "p.(Leu537Pro)" "" "0000626481" "00024039" "50" "1004" "3" "1004" "3" "c.1004+3A>C" "r.(?)" "p.(?)" "" "0000650583" "00024039" "90" "1414" "-1" "1414" "-1" "c.1414-1G>C" "r.spl?" "p.?" "" "0000650584" "00024039" "90" "1417" "0" "1417" "0" "c.1417C>A" "r.(?)" "p.(Gln473Lys)" "" "0000650585" "00024039" "30" "4864" "0" "4864" "0" "c.*3013T>C" "r.(=)" "p.(=)" "" "0000653358" "00024039" "50" "1755" "0" "1755" "0" "c.1755C>A" "r.(?)" "p.(Phe585Leu)" "" "0000653361" "00024039" "50" "124" "0" "124" "0" "c.124C>A" "r.(?)" "p.(Pro42Thr)" "" "0000653478" "00024039" "50" "1601" "0" "1601" "0" "c.1601T>G" "r.(?)" "p.(Leu534Arg)" "" "0000660282" "00024039" "70" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Gln490*)" "" "0000664831" "00024039" "90" "1245" "1" "1245" "1" "c.1245+1G>A" "r.(?)" "p.(?)" "" "0000667559" "00024039" "70" "1634" "0" "1634" "0" "c.1634C>G" "r.(?)" "p.(Ser545*)" "" "0000667631" "00024039" "70" "1385" "0" "1385" "0" "c.1385A>G" "r.(?)" "p.(Lys462Arg)" "" "0000676621" "00024039" "30" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Val162Ile)" "" "0000683631" "00024039" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Arg499His)" "" "0000688746" "00024039" "10" "683" "-9" "683" "-9" "c.683-9C>T" "r.(=)" "p.(=)" "" "0000688747" "00024039" "50" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Thr337Ile)" "" "0000693925" "00024039" "90" "1204" "0" "1204" "0" "c.1204del" "r.(?)" "p.(Thr402ProfsTer5)" "" "0000712631" "00024039" "70" "978" "0" "979" "0" "c.978_979insA" "r.(?)" "p.(Leu327Thrfs*5)" "" "0000718749" "00024039" "90" "165" "0" "165" "0" "c.165C>G" "r.(?)" "p.(Tyr55*)" "" "0000718750" "00024039" "70" "1250" "0" "1250" "0" "c.1250G>A" "r.(?)" "p.(Gly417Glu)" "" "0000718751" "00024039" "90" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Arg460Cys)" "" "0000784068" "00024039" "70" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Gly471Ser)" "" "0000788904" "00024039" "70" "1459" "0" "1459" "0" "c.1459A>C" "r.(?)" "p.(Asn487His)" "" "0000790984" "00024039" "50" "1034" "0" "1034" "0" "c.1034C>G" "r.(?)" "p.(Ala345Gly)" "" "0000800579" "00024039" "70" "98" "0" "98" "0" "c.98del" "r.(?)" "p.(Pro33Leufs*27)" "" "0000800580" "00024039" "50" "712" "0" "712" "0" "c.712C>A" "r.(?)" "p.(Pro238Thr)" "" "0000800581" "00024039" "90" "1245" "1" "1245" "1" "c.1245+1G>C" "r.spl?" "p.?" "" "0000800582" "00024039" "90" "1494" "-16" "1494" "-16" "c.1494-16G>A" "r.(=)" "p.(=)" "" "0000800583" "00024039" "50" "1593" "0" "1593" "0" "c.1593A>T" "r.(?)" "p.(Gln531His)" "" "0000813613" "00024039" "70" "1679" "0" "1679" "0" "c.1679C>T" "r.(?)" "p.(Pro560Leu)" "" "0000828439" "00024039" "50" "1739" "0" "1739" "0" "c.1739T>A" "r.(?)" "p.(Ile580Asn)" "" "0000829418" "00024039" "50" "-4688493" "0" "8388607" "0" "c.-4688493_*29701616dup" "r.0?" "p.0?" "" "0000847169" "00024039" "90" "1245" "1" "1245" "1" "c.1245+1G>A" "r.spl" "p.?" "" "0000849865" "00024039" "30" "134" "0" "134" "0" "c.134C>A" "r.(?)" "p.(Pro45Gln)" "" "0000849866" "00024039" "50" "1479" "0" "1479" "0" "c.1479T>A" "r.(?)" "p.(Asp493Glu)" "" "0000849867" "00024039" "50" "1625" "0" "1625" "0" "c.1625A>G" "r.(?)" "p.(Asp542Gly)" "" "0000849868" "00024039" "90" "1728" "1" "1728" "1" "c.1728+1G>C" "r.spl?" "p.?" "" "0000858508" "00024039" "50" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Trp77Ser)" "" "0000858509" "00024039" "70" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Ser399Leu)" "" "0000858510" "00024039" "30" "1807" "0" "1807" "0" "c.1807G>T" "r.(?)" "p.(Ala603Ser)" "" "0000874569" "00024039" "50" "1537" "-16" "1537" "-4" "c.1537-16_1537-4del" "r.(?)" "p.(?)" "" "0000881158" "00024039" "90" "1245" "5" "1245" "5" "c.1245+5G>A" "r.spl" "p.?" "" "0000881270" "00024039" "90" "1781" "0" "1781" "0" "c.1781del" "r.(?)" "p.(Arg594ProfsTer8)" "" "0000881271" "00024039" "70" "1607" "0" "1609" "0" "c.1607_1609del" "r.(?)" "p.(Gln536del)" "" "0000881341" "00024039" "50" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Ser44Leu)" "" "0000885133" "00024039" "50" "452" "0" "452" "0" "c.452A>C" "r.(?)" "p.(Lys151Thr)" "" "0000885134" "00024039" "90" "1005" "-2" "1005" "-2" "c.1005-2A>C" "r.spl?" "p.?" "" "0000885135" "00024039" "30" "1493" "18" "1493" "18" "c.1493+18G>T" "r.(=)" "p.(=)" "" "0000885136" "00024039" "50" "1664" "0" "1664" "0" "c.1664A>T" "r.(?)" "p.(Asp555Val)" "" "0000908900" "00024039" "70" "1688" "-1" "1728" "1" "c.(1687+1_1688-1)_(1728+1_1729-1)dup" "r.1688_1728dup" "p.Met577Asnfs*2" "" "0000908920" "00024039" "50" "1174" "0" "1174" "0" "c.1174G>C" "r.1174g>c" "p.Ala392Pro" "" "0000911690" "00024039" "30" "586" "9" "586" "12" "c.586+9_586+12del" "r.(=)" "p.(=)" "" "0000911691" "00024039" "90" "1169" "0" "1169" "0" "c.1169T>C" "r.(?)" "p.(Met390Thr)" "" "0000911692" "00024039" "30" "1493" "6" "1493" "6" "c.1493+6G>A" "r.(=)" "p.(=)" "" "0000911693" "00024039" "70" "1540" "0" "1540" "0" "c.1540A>G" "r.(?)" "p.(Arg514Gly)" "" "0000923685" "00024039" "50" "631" "0" "631" "0" "c.631G>A" "r.(?)" "p.(Val211Ile)" "" "0000923686" "00024039" "50" "1669" "0" "1669" "0" "c.1669G>C" "r.(?)" "p.(Ala557Pro)" "" "0000923687" "00024039" "30" "1735" "0" "1735" "0" "c.1735A>C" "r.(?)" "p.(Asn579His)" "" "0000927602" "00024039" "70" "1490" "0" "1490" "0" "c.1490T>C" "r.(?)" "p.(Leu497Pro)" "12" "0000947830" "00024039" "30" "1493" "18" "1493" "18" "c.1493+18G>T" "r.(=)" "p.(=)" "" "0000947831" "00024039" "90" "1514" "0" "1515" "0" "c.1514_1515del" "r.(?)" "p.(Tyr505Cysfs*6)" "" "0000947832" "00024039" "70" "1837" "0" "1837" "0" "c.1837G>A" "r.(?)" "p.(Asp613Asn)" "" "0000962076" "00024039" "50" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Gly419Arg)" "" "0000975222" "00024039" "50" "23" "0" "23" "0" "c.23G>A" "r.(?)" "p.(Gly8Glu)" "" "0000975223" "00024039" "90" "153" "0" "153" "0" "c.153C>G" "r.(?)" "p.(Tyr51Ter)" "" "0000975224" "00024039" "30" "586" "9" "586" "12" "c.586+9_586+12del" "r.(=)" "p.(=)" "" "0000975225" "00024039" "50" "1625" "0" "1625" "0" "c.1625A>G" "r.(?)" "p.(Asp542Gly)" "" "0000986093" "00024039" "90" "1004" "5" "1004" "5" "c.1004+5G>A" "r.871_1004del" "p.Gly291Trpfs*5" "6i" "0000986976" "00024039" "70" "1166" "0" "1166" "0" "c.1166C>A" "r.(?)" "p.(Thr389Lys)" "8" "0000992811" "00024039" "50" "665" "0" "665" "0" "c.665A>G" "r.(?)" "p.(Asn222Ser)" "" "0000992812" "00024039" "30" "895" "0" "895" "0" "c.895A>C" "r.(?)" "p.(Asn299His)" "" "0000992813" "00024039" "50" "1174" "0" "1174" "0" "c.1174G>C" "r.(?)" "p.(Ala392Pro)" "" "0000992814" "00024039" "30" "1297" "0" "1297" "0" "c.1297C>T" "r.(?)" "p.(Leu433Phe)" "" "0000992815" "00024039" "30" "1493" "18" "1493" "18" "c.1493+18G>T" "r.(=)" "p.(=)" "" "0001011933" "00024039" "90" "1459" "0" "1459" "0" "c.1459A>G" "r.(?)" "p.(Asn487Asp)" "" "0001011963" "00024039" "90" "1322" "-2" "1322" "-2" "c.1322-2A>G" "r.spl" "p.?" "" "0001013723" "00024039" "50" "450" "0" "450" "0" "c.450G>T" "r.(?)" "p.(Lys150Asn)" "" "0001033286" "00024039" "10" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Ser44Leu)" "" "0001033287" "00024039" "90" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Arg431Ter)" "" "0001045829" "00024039" "50" "166" "0" "174" "0" "c.166_174del" "r.(?)" "p.(Pro56_Phe58del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 69 "{{screeningid}}" "{{variantid}}" "0000039587" "0000067188" "0000039588" "0000067189" "0000039589" "0000067190" "0000039590" "0000067191" "0000047190" "0000075860" "0000047191" "0000075861" "0000047192" "0000075862" "0000056392" "0000086632" "0000057871" "0000088192" "0000080893" "0000129953" "0000089175" "0000147087" "0000089176" "0000147088" "0000089177" "0000147089" "0000104523" "0000169467" "0000145474" "0000237846" "0000147973" "0000241254" "0000165580" "0000369305" "0000175277" "0000395148" "0000184364" "0000408407" "0000207847" "0000437553" "0000209889" "0000440133" "0000219728" "0000454602" "0000229031" "0000470173" "0000230742" "0000472360" "0000236444" "0000667631" "0000249940" "0000579019" "0000249941" "0000579020" "0000249942" "0000579021" "0000249943" "0000579022" "0000249944" "0000579023" "0000249945" "0000579024" "0000249946" "0000579025" "0000249947" "0000579026" "0000249948" "0000579027" "0000249949" "0000579028" "0000249950" "0000579029" "0000249951" "0000579030" "0000249952" "0000579031" "0000263223" "0000593704" "0000272551" "0000626481" "0000293894" "0000650583" "0000293895" "0000650584" "0000293896" "0000650585" "0000296667" "0000653358" "0000296670" "0000653361" "0000296767" "0000653478" "0000297673" "0000660282" "0000301759" "0000664831" "0000304161" "0000667559" "0000309151" "0000683631" "0000312341" "0000693925" "0000328668" "0000712631" "0000373812" "0000784068" "0000376849" "0000788904" "0000378274" "0000790984" "0000386209" "0000813613" "0000396771" "0000828439" "0000409953" "0000847169" "0000420799" "0000881158" "0000420799" "0000881341" "0000420911" "0000881270" "0000420912" "0000881271" "0000429427" "0000908900" "0000429447" "0000908920" "0000436578" "0000927602" "0000452114" "0000986093" "0000452631" "0000986976" "0000457430" "0001011933" "0000457460" "0001011963"