### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPG11) # 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}}" "SPG11" "spastic paraplegia 11 (autosomal recessive)" "15" "q13-q15" "unknown" "NG_008885.1" "UD_132118222553" "" "https://www.LOVD.nl/SPG11" "" "1" "11226" "80208" "610844" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/SPG11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-23 20:26:28" "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}}" "00024040" "SPG11" "transcript variant 1" "002" "NM_025137.3" "" "NP_079413.3" "" "" "" "-31" "7757" "7332" "44955876" "44854894" "00006" "2015-06-15 11:30:40" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "00611" "MC1DN" "mitochondrial complex I deficiency, nuclear (MC1DN)" "AR" "252010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01933" "MPS3A" "mucopolysaccharidosis, type IIIA (MPS-3A)" "AR" "252900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02501" "SPG11" "paraplegia, spastic, autosomal recessive, type 11 (SPG-11)" "AR" "604360" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03824" "SPGF11" "spermatogenic failure, type 11 (SPGF-11)" "AD" "615081" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06256" "ALS5" "Amyotrophic lateral sclerosis 5, juvenile" "AR" "602099" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06260" "CMT2X" "Charcot-Marie-Tooth disease, axonal, type 2X" "AR" "616668" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SPG11" "00325" "SPG11" "02501" "SPG11" "06256" "SPG11" "06260" ## Individuals ## Do not remove or alter this header ## ## Count = 88 "{{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}}" "00039356" "" "" "" "1" "" "01330" "" "" "" "" "Greece" "" "0" "" "" "" "" "00039357" "" "" "" "1" "" "01330" "" "" "" "" "Greece" "" "0" "" "" "" "" "00046996" "" "" "" "1" "" "01330" "" "" "" "" "" "" "0" "" "" "" "" "00046997" "" "" "" "1" "" "01330" "" "" "" "" "" "" "0" "" "" "" "" "00046998" "" "" "" "1" "" "01330" "" "" "" "" "" "" "0" "" "" "" "" "00046999" "" "" "" "1" "" "01330" "" "" "" "" "" "" "0" "" "" "" "" "00059134" "" "" "" "5" "" "01552" "" "family, 5 affecteds (3 affected siblings, 1 cousin), unaffected heterozygous carrier parents, heterozygous in 7 healthy related individuals" "F" "yes" "(France);Sudan" "" "0" "yes" "" "African Arabs" "" "00059230" "" "" "" "5" "" "01552" "" "family, 5 affecteds and several unaffected heterozygous carriers" "F" "yes" "(France);Sudan" "" "0" "yes" "" "" "" "00059232" "" "" "" "2" "" "01552" "" "" "M" "yes" "(France);Sudan" "" "0" "yes" "" "" "" "00059264" "" "" "" "1" "" "01500" "" "" "?" "?" "Poland" "" "0" "" "" "" "" "00059265" "" "" "" "1" "" "01500" "" "" "?" "no" "Poland" "" "0" "" "" "" "" "00059266" "" "" "" "1" "" "01500" "" "" "?" "no" "Poland" "" "0" "" "" "" "" "00059267" "" "" "" "1" "" "01500" "" "" "?" "no" "Poland" "" "0" "" "" "" "" "00059268" "" "" "" "1" "" "01500" "" "" "?" "no" "Poland" "" "0" "" "" "" "" "00059269" "" "" "" "1" "" "01500" "" "" "?" "no" "Poland" "" "0" "" "" "" "" "00059270" "" "" "" "1" "" "01500" "" "" "?" "no" "Germany" "" "0" "" "" "" "" "00059271" "" "" "" "1" "" "01500" "" "" "?" "no" "Germany" "" "0" "" "" "" "" "00059272" "" "" "" "1" "" "01500" "" "" "?" "no" "Germany" "" "0" "" "" "" "" "00059273" "" "" "" "1" "" "01500" "" "" "?" "no" "Germany" "" "0" "" "" "" "" "00059274" "" "" "" "1" "" "01500" "" "" "?" "no" "United States" "" "0" "" "" "" "" "00059275" "" "" "" "1" "" "01500" "" "" "?" "no" "Germany" "" "0" "" "" "" "" "00081079" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "" "00144618" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00150162" "" "" "" "3" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB5189" "00183456" "" "" "" "1" "" "02947" "{PMID:Giugliano 2018:30373198}" "" "M" "" "Italy" "" "0" "" "" "" "Patient XVIII" "00218044" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00274061" "" "" "" "1" "" "00006" "{PMID:Wei 2011:22216297}" "" "" "" "China" "" "0" "" "" "" "P1" "00289283" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00291216" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291217" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291218" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291219" "" "" "" "27" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291220" "" "" "" "35" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291221" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291222" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291223" "" "" "" "31" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291224" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295151" "" "" "" "87" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295499" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295751" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00295913" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295927" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296867" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00300312" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00305328" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306777" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00307308" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00318003" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR184" "00324342" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00324887" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam21" "00361900" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00361901" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00372760" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "179077" "00374508" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4250" "00374509" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-7220" "00374510" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4523" "00374511" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4351" "00374711" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4151" "00403889" "" "" "" "2" "" "00435" "family, patient and brother with similar condition" "" "F" "" "Egypt" "" "0" "" "" "" "" "00403897" "" "" "" "3" "" "00435" "family, female with two older sisters with similar condition" "" "F" "yes" "Egypt" "" "0" "" "" "" "" "00403909" "" "" "" "1" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00403923" "" "" "" "1" "" "00435" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" "00403925" "" "" "" "1" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404047" "" "" "" "3" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404048" "" "" "" "2" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404050" "" "" "" "2" "" "00435" "" "" "F" "" "Egypt" "" "" "" "" "" "" "00404058" "" "" "" "4" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404063" "" "" "" "2" "" "00435" "" "" "F" "" "Egypt" "" "" "" "" "" "" "00404098" "" "" "" "2" "cc_by-sa_4.0;1" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404099" "" "" "" "2" "" "00435" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" "00404100" "" "" "" "3" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404101" "" "" "" "3" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404102" "" "" "" "1" "" "00435" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" "00407041" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "" "M" "" "China" "" "0" "" "" "" "SPG11#1" "00407042" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "" "F" "" "China" "" "0" "" "" "" "SPG11#2" "00408673" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat21" "00414061" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "F" "" "Netherlands" "" "0" "" "" "" "AR9" "00414062" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "M" "" "Netherlands" "" "0" "" "" "" "AR10" "00414063" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "F" "" "Netherlands" "" "0" "" "" "" "AR11" "00414064" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "M" "" "Netherlands" "" "0" "" "" "" "AR12" "00427972" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A014" "00432529" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00435207" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00442605" "" "" "" "3" "" "03312" "" "" "" "yes" "Pakistan" "" "0" "" "" "" "RDHR07" "00447356" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-389" "00455765" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat5" "00455806" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat46" "00455813" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat53" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 90 "{{individualid}}" "{{diseaseid}}" "00039356" "02501" "00039357" "02501" "00046996" "02501" "00046997" "02501" "00046998" "02501" "00046999" "02501" "00059134" "02501" "00059230" "02501" "00059232" "02501" "00059264" "02501" "00059265" "02501" "00059266" "02501" "00059267" "02501" "00059268" "02501" "00059269" "02501" "00059270" "02501" "00059271" "02501" "00059272" "02501" "00059273" "02501" "00059274" "02501" "00059275" "02501" "00081079" "02501" "00144618" "00198" "00150162" "00198" "00183456" "00244" "00218044" "00198" "00274061" "00325" "00289283" "00198" "00291216" "00198" "00291217" "00198" "00291218" "00198" "00291219" "00198" "00291220" "00198" "00291221" "00198" "00291222" "00198" "00291223" "00198" "00291224" "00198" "00295151" "00198" "00295499" "00198" "00295751" "00198" "00295913" "00198" "00295927" "00198" "00296867" "00198" "00300312" "00198" "00305328" "00198" "00306777" "00198" "00307308" "00198" "00318003" "00139" "00324342" "00198" "00324887" "05611" "00361900" "01933" "00361900" "02501" "00361901" "00611" "00361901" "02501" "00372760" "02501" "00374508" "00198" "00374509" "00198" "00374510" "00198" "00374511" "00198" "00374711" "00198" "00403889" "02501" "00403897" "02501" "00403909" "02501" "00403923" "02501" "00403925" "02501" "00404047" "02501" "00404048" "02501" "00404050" "03824" "00404058" "02501" "00404063" "02501" "00404098" "03824" "00404099" "02501" "00404100" "02501" "00404101" "02501" "00404102" "02501" "00407041" "04255" "00407042" "04255" "00408673" "00198" "00414061" "00000" "00414062" "00000" "00414063" "00000" "00414064" "00000" "00427972" "00198" "00432529" "04255" "00435207" "00325" "00442605" "02501" "00447356" "00198" "00455765" "00198" "00455806" "00198" "00455813" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00244, 00325, 00611, 01933, 02501, 03824, 04255, 05611, 06256, 06260 ## Count = 75 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000029697" "02501" "00039356" "01330" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029698" "02501" "00039357" "01330" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035829" "02501" "00046996" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035830" "02501" "00046997" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035831" "02501" "00046998" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035832" "02501" "00046999" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045731" "02501" "00059134" "01552" "Familial, autosomal recessive" "29y" "spastic paraplegia, ataxia, cognitive deficit, atrophy of the corpus callosum, motor demyelination mixed with axonal degeneration" "24y" "" "spastic ataxia" "" "" "" "" "" "" "" "" "0000045736" "02501" "00059230" "01552" "Familial, autosomal recessive" "29y" "spastic paraplegia, ataxia, dysarthria" "17y" "" "" "" "" "" "" "" "" "" "" "0000045738" "02501" "00059232" "01552" "Familial, autosomal recessive" "23y" "spastic paraplegia, muscle wasting, ataxia, dysarthria, hypokinesia, rigidity" "13y" "" "spastic paraplegia" "" "" "" "" "" "" "" "" "0000046764" "02501" "00059264" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046765" "02501" "00059265" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046766" "02501" "00059266" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046767" "02501" "00059267" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046768" "02501" "00059268" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046769" "02501" "00059269" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046770" "02501" "00059270" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046771" "02501" "00059271" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046772" "02501" "00059272" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046773" "02501" "00059273" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046774" "02501" "00059275" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046775" "02501" "00059274" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060648" "02501" "00081079" "01758" "Familial, autosomal recessive" "" "Spastic paraplegia 11, autosomal recessive (OMIM:604360)" "" "" "" "" "" "" "" "" "" "" "" "0000117359" "00198" "00144618" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000122564" "00198" "00150162" "00006" "Familial, autosomal recessive" "" "hereditary spastic paraplegia" "" "" "" "" "" "" "" "" "" "" "" "0000166494" "00198" "00218044" "01807" "Unknown" "" "HP:0002352 (Leukoencephalopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000171336" "00244" "00183456" "00006" "Unknown" "" "onset juvenile, distal weakness, proximal and distal muscle weaknesss, normal CPK (1x), EMG myopathic; dystrophic features,\r\ncentral nuclei, increased connective tissue and rare vacuoles" "" "" "distal weakness" "" "" "" "" "" "" "myopathy" "" "0000209035" "00325" "00274061" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SPG11" "HSP-TCC" "" "0000222914" "00198" "00289283" "01164" "Unknown" "" "Gait disturbance (HP:0001288); Hyperreflexia (HP:0001347); Talipes (HP:0001883); Broad-based gait (HP:0002136); Pelvic girdle muscle weakness (HP:0003749)" "" "" "" "" "" "" "" "" "" "" "" "0000223070" "00198" "00295499" "01164" "Unknown" "" "Abnormality of movement (HP:0100022)" "" "" "" "" "" "" "" "" "" "" "" "0000223269" "00198" "00295751" "01164" "Unknown" "" "Gait disturbance (HP:0001288); Cataract (HP:0000518); Type II diabetes mellitus (HP:0005978); Hypertension (HP:0000822); Functional abnormality of the bladder (HP:0000009)" "" "" "" "" "" "" "" "" "" "" "" "0000223389" "00198" "00295913" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Gait disturbance (HP:0001288); Spastic gait (HP:0002064)" "" "" "" "" "" "" "" "" "" "" "" "0000223403" "00198" "00295927" "01164" "Unknown" "" "Morphological abnormality of the central nervous system (HP:0002011); Abnormality of the cerebrospinal fluid (HP:0002921)" "" "" "" "" "" "" "" "" "" "" "" "0000224264" "00198" "00296867" "01164" "Unknown" "" "Hypertonia (HP:0001276); Spastic paraparesis (HP:0002313); Corpus callosum atrophy (HP:0007371); Delayed speech and language development (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000227622" "00198" "00300312" "01164" "Unknown" "" "Spastic paraparesis (HP:0002313)" "" "" "" "" "" "" "" "" "" "" "" "0000232605" "00198" "00306777" "01807" "Unknown" "" "Progressive spastic paraparesis (HP:0007199)" "" "" "" "" "" "" "" "" "" "" "" "0000233108" "00198" "00307308" "01164" "Unknown" "" "Lower limb hyperreflexia (HP:0002395)" "" "" "" "" "" "" "" "" "" "" "" "0000241787" "00139" "00318003" "00006" "Familial, autosomal recessive" "" "Moderate ID, weak memory, weak limbs and muscles" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000242885" "00198" "00324342" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258); Myopathy (HP:0003198)" "" "" "" "" "" "" "" "" "" "" "" "0000243383" "05611" "00324887" "00006" "Isolated (sporadic)" "09y" "see paper; ..., birth 40w, weight +0/13SD, OFC -1.3SD; weight -1.7SD, length -2.6SD, OFC -2.07SD; severe intellectual disability/developemental delay; hypotonia; seizures; motor delay; 35m-walk; speech delay; no speech; autistic behaviour; stereotypies; hyperactivity; feeding difficulties; sleeping disturbance; almond eyes; thin upper lip; epicanthus" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000257295" "01933" "00361900" "03219" "Familial, autosomal recessive" "" "Intellectual delay, coarse face, enzyme assay suggestive of Sanfilipo disease" "" "" "" "" "" "" "" "" "" "" "" "0000257296" "00611" "00361901" "03219" "Familial, autosomal recessive" "" "Neuroregression following viral illness, hypotonia, normal deep tendon reflexes" "" "" "" "" "" "" "" "" "" "" "" "0000257297" "02501" "00361901" "03219" "Familial, autosomal recessive" "" "Neuroregression following viral illness, hypotonia, normal deep tendon reflexes" "" "" "" "" "" "" "" "" "" "" "" "0000268037" "02501" "00372760" "01164" "Familial, autosomal recessive" "" "Spastic paraparesis and paraplegia" "" "" "" "" "" "" "" "" "30y" "" "" "0000269718" "00198" "00374508" "00006" "Familial, autosomal recessive" "" "Muscular dystrophy" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000269719" "00198" "00374509" "00006" "Familial, autosomal recessive" "" "Progressive spastic paraplegia and cognitive impairment" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000269720" "00198" "00374510" "00006" "Familial, autosomal recessive" "" "Problems with walking, talking and memory" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000269721" "00198" "00374511" "00006" "Familial, autosomal recessive" "" "Difficulty in walking and learning" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000269921" "00198" "00374711" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000296568" "02501" "00403889" "00435" "Familial, autosomal recessive" "25y" "delayed mental and physical development, spastic lower limbs, hyperreflexia, Babinski sign, intact abdominal reflex, pes cavus; brother with similar condition" "07y" "" "7y" "" "" "" "" "" "HSP" "HSP" "" "0000296570" "02501" "00403897" "00435" "Familial, autosomal recessive" "20y" "11y-developed illness, spastic lower limbs, hyperreflexia, intact abdominal reflexes, Babinski sign, bilateral pes cavus; two older sisters with similar condition" "11y" "15y" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296575" "02501" "00403909" "00435" "Familial, autosomal recessive" "38y" "spastic lower limbs, cerebellar ataxia, pes cavus" "" "22y" "18y" "" "" "" "" "" "SPG11" "HSP" "" "0000296578" "02501" "00403923" "00435" "Familial, autosomal recessive" "42y" "Progressive spastic paraparesis" "21y" "33y" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296580" "02501" "00403925" "00435" "Familial, autosomal recessive" "32y" "Progressive spastic paraparesis" "16y" "28y" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296640" "02501" "00404047" "00435" "Familial, autosomal recessive" "22y" "22-y with progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy and pes cavus. Nerve conduction velocity study showed demyelinating peripheral neuropathy" "13y" "" "" "" "" "" "" "" "SPG11" "Cerebellar and sensory ataxia, spastic paraparesis and peripheral neuropathy" "" "0000296641" "02501" "00404048" "00435" "Familial, autosomal recessive" "16y" "16-y male with progressive cerebellar ataxia and peripheral neuropathy. Neurological examination revealed intention tremors, staccato speech, pes cavus, stocking and glove hypesthesia, exaggerated knee reflex and Babinski sign" "12y" "" "SCA" "" "" "" "" "" "SPG11" "SCA" "" "0000296643" "03824" "00404050" "00435" "Familial, autosomal recessive" "28y" "28y female with progressive spastic paraparesis, mental retardation, slurred speech and pes cavus" "16y" "" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296651" "02501" "00404058" "00435" "Familial, autosomal recessive" "36y" "36-y man with progressive spastic paraparesis. Neurological examination showed spastic lower limbs, pes cavus and peripheral neuropathy. Nerve conduction velocity study showed demyelinating peripheral Neuropathy" "16y" "" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296655" "02501" "00404063" "00435" "Familial, autosomal recessive" "20y" "20-y female with progressive spastic paraparesis, pes cavus, peripheral neuropathy, mild/moderate mental subnormality." "15y" "" "" "" "" "" "" "" "" "15y" "" "0000296687" "03824" "00404098" "00435" "Familial, autosomal recessive" "28y" "28-y male with delayed mental development. He developed progressive spastic lower limbs, wasting of small muscles of the hands and pes cavus. He has two paternal male uncles with similar condition." "12y" "" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296688" "02501" "00404099" "00435" "Familial, autosomal recessive" "34y" "34-y female with progressive spasticity in both lower limbs and cognitive deterioration and stocking and glove hypesthesia." "16y" "" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296689" "02501" "00404100" "00435" "Familial, autosomal recessive" "42y" "42-y man with progressive spastic lower limbs, slurred speech and bilateral pes cavus." "28y" "" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296690" "02501" "00404101" "00435" "Familial, autosomal recessive" "18y" "18-y male with progressive weakness and spasticity of both lower limbs, cognitive deterioration, limb ataxia, peripheral neuropathy and bilateral pes cavus. He had history of delayed mental and motor development." "11y" "" "" "" "" "" "" "" "SPG11" "SCA; HSP" "" "0000296691" "02501" "00404102" "00435" "Unknown" "38y" "38-y woman with progressive weakness and spasticity of both lower limbs, mild hand weakness and bilateral pes cavus." "22y" "" "" "" "" "" "" "" "SPG11" "HSP" "" "0000299429" "04255" "00407041" "00006" "Familial, autosomal recessive" "23y" "site onset limb" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000299430" "04255" "00407042" "00006" "Familial, autosomal recessive" "14y" "site onset limb" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000300791" "00198" "00408673" "00006" "Familial, autosomal recessive" "" "" "12y" "" "" "" "" "" "" "" "SPG11" "cerebellar ataxia" "" "0000305962" "00000" "00414061" "03208" "Familial, autosomal recessive" "" "spasticity, dysarthria" "" "" "" "" "" "" "" "" "" "" "" "0000305963" "00000" "00414062" "03208" "Familial, autosomal recessive" "" "spasticity and speech problems" "" "" "" "" "" "" "" "" "" "" "" "0000305964" "00000" "00414063" "03208" "Familial, autosomal recessive" "" "spastic paraplegia, swallowing and speech disorder" "" "" "" "" "" "" "" "" "" "" "" "0000305965" "00000" "00414064" "03208" "Familial, autosomal recessive" "" "hereditary spastic paraplegia" "" "" "" "" "" "" "" "" "" "" "" "0000318918" "00198" "00427972" "00006" "Familial, autosomal recessive" "43y" "" "" "" "" "" "" "" "" "" "SPG11" "spastic paraplegia" "" "0000336555" "00198" "00447356" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000344298" "00198" "00455765" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SPG11" "neurogenetic diseases" "" "0000344339" "00198" "00455806" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SPG11" "neurogenetic diseases" "" "0000344346" "00198" "00455813" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SPG11" "neurogenetic diseases" "" ## Screenings ## Do not remove or alter this header ## ## Count = 89 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000039594" "00039356" "1" "01330" "01330" "2015-06-13 11:57:31" "" "" "SEQ" "DNA" "" "" "0000039595" "00039357" "1" "01330" "01330" "2015-06-13 12:03:47" "" "" "SEQ" "DNA" "" "" "0000047196" "00046996" "1" "01330" "01330" "2015-08-04 16:32:52" "" "" "SEQ" "DNA" "" "" "0000047197" "00046997" "1" "01330" "01330" "2015-08-04 16:35:14" "" "" "SEQ" "DNA" "" "" "0000047198" "00046998" "1" "01330" "01330" "2015-08-04 16:49:23" "" "" "SEQ" "DNA" "" "" "0000047199" "00046999" "1" "01330" "01330" "2015-08-04 16:51:47" "" "" "SEQ" "DNA" "" "" "0000059104" "00059134" "1" "01552" "01552" "2016-02-27 00:02:35" "01552" "2016-03-04 11:30:38" "micro;SEQ" "DNA" "" "" "0000059217" "00059230" "1" "01552" "01552" "2016-03-04 10:43:27" "" "" "micro;SEQ" "DNA" "" "" "0000059219" "00059232" "1" "01552" "01552" "2016-03-04 11:16:15" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059251" "00059264" "1" "01500" "01500" "2016-03-09 12:19:30" "" "" "SEQ" "DNA" "leukocytes" "" "0000059252" "00059265" "1" "01500" "01500" "2016-03-09 12:26:14" "" "" "SEQ" "DNA" "leukocytes" "" "0000059253" "00059266" "1" "01500" "01500" "2016-03-09 12:32:41" "" "" "SEQ" "DNA" "leukocytes" "" "0000059254" "00059267" "1" "01500" "01500" "2016-03-09 12:38:37" "" "" "SEQ" "DNA" "leukocytes" "" "0000059255" "00059268" "1" "01500" "01500" "2016-03-09 12:42:35" "" "" "SEQ" "DNA" "leukocytes" "" "0000059256" "00059269" "1" "01500" "01500" "2016-03-09 12:45:46" "" "" "SEQ" "DNA" "leukocytes" "" "0000059257" "00059270" "1" "01500" "01500" "2016-03-09 12:52:06" "" "" "MLPA" "DNA" "leukocytes" "" "0000059258" "00059271" "1" "01500" "01500" "2016-03-09 12:57:16" "" "" "SEQ" "DNA" "" "" "0000059259" "00059272" "1" "01500" "01500" "2016-03-09 13:00:31" "" "" "SEQ" "DNA" "leukocytes" "" "0000059260" "00059273" "1" "01500" "01500" "2016-03-09 13:04:43" "" "" "SEQ" "DNA" "leukocytes" "" "0000059261" "00059274" "1" "01500" "01500" "2016-03-09 13:07:47" "" "" "SEQ" "DNA" "leukocytes" "" "0000059262" "00059274" "1" "01500" "01500" "2016-03-09 13:11:13" "" "" "SEQ" "DNA" "" "" "0000059263" "00059275" "1" "01500" "01500" "2016-03-09 13:13:20" "" "" "SEQ" "DNA" "" "" "0000081191" "00081079" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000145475" "00144618" "0" "01807" "01807" "2017-12-18 12:53:48" "" "" "SEQ" "DNA" "" "" "0000151017" "00150162" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000184424" "00183456" "1" "02947" "02947" "2018-10-25 15:33:47" "" "" "arrayCGH" "DNA" "" "" "0000219114" "00218044" "1" "01807" "01807" "2019-01-17 11:44:10" "" "" "SEQ" "DNA" "" "" "0000275218" "00274061" "1" "00006" "00006" "2019-12-23 20:45:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000290453" "00289283" "1" "01164" "01164" "2020-03-02 12:26:18" "" "" "SEQ-NG-S" "DNA" "" "" "0000292384" "00291216" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292385" "00291217" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292386" "00291218" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292387" "00291219" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292388" "00291220" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292389" "00291221" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292390" "00291222" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292391" "00291223" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292392" "00291224" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296319" "00295151" "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" "" "" "0000296924" "00295751" "1" "01164" "01164" "2020-03-26 12:30:11" "" "" "SEQ-NG-S" "DNA" "" "" "0000297085" "00295913" "1" "01164" "01164" "2020-03-30 10:43:54" "" "" "SEQ-NG-S" "DNA" "" "" "0000297099" "00295927" "1" "01164" "01164" "2020-03-30 10:44:21" "" "" "SEQ-NG-S" "DNA" "" "" "0000297977" "00296867" "1" "01164" "01164" "2020-04-14 14:29:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000301433" "00300312" "1" "01164" "01164" "2020-04-30 13:29:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000306457" "00305328" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307913" "00306777" "1" "01807" "01807" "2020-07-20 10:35:01" "" "" "SEQ" "DNA" "" "" "0000308450" "00307308" "1" "01164" "01164" "2020-08-10 12:19:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000319185" "00318003" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325532" "00324342" "1" "01807" "01807" "2020-12-07 15:31:01" "" "" "SEQ" "DNA" "" "" "0000326094" "00324887" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000363128" "00361900" "1" "03219" "03219" "2021-04-12 06:22:50" "" "" "SEQ-NG" "DNA" "" "" "0000363129" "00361901" "1" "03219" "03219" "2021-04-12 06:29:56" "" "" "SEQ-NG" "DNA" "" "" "0000373993" "00372760" "1" "01164" "01164" "2021-05-11 15:19:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000375702" "00374508" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375703" "00374509" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375704" "00374510" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375705" "00374511" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375905" "00374711" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000405127" "00403889" "1" "00435" "00435" "2022-02-24 18:59:49" "" "" "SEQ" "DNA" "blood" "" "0000405135" "00403897" "1" "00435" "00435" "2022-02-24 20:12:22" "" "" "SEQ" "DNA" "blood" "" "0000405147" "00403909" "1" "00435" "00435" "2022-02-24 21:18:38" "" "" "SEQ" "DNA" "blood" "" "0000405161" "00403923" "1" "00435" "00435" "2022-02-24 22:06:44" "" "" "SEQ" "DNA" "blood" "" "0000405163" "00403925" "1" "00435" "00435" "2022-02-24 22:33:59" "" "" "SEQ" "DNA" "blood" "" "0000405286" "00404047" "1" "00435" "00435" "2022-02-25 15:04:07" "" "" "SEQ" "DNA" "blood" "" "0000405287" "00404048" "1" "00435" "00435" "2022-02-25 15:15:55" "" "" "SEQ" "DNA" "blood" "" "0000405289" "00404050" "1" "00435" "00435" "2022-02-25 15:36:05" "" "" "SEQ" "DNA" "blood" "" "0000405297" "00404058" "1" "00435" "00435" "2022-02-25 16:11:45" "" "" "SEQ" "DNA" "blood" "" "0000405300" "00404063" "1" "00435" "00435" "2022-02-25 17:35:25" "" "" "SEQ" "DNA" "blood" "" "0000405336" "00404098" "1" "00435" "00435" "2022-02-27 12:39:53" "" "" "SEQ" "DNA" "blood" "" "0000405337" "00404099" "1" "00435" "00435" "2022-02-27 12:53:49" "" "" "SEQ" "DNA" "blood" "" "0000405338" "00404100" "1" "00435" "00435" "2022-02-27 13:04:26" "" "" "SEQ" "DNA" "blood" "" "0000405339" "00404101" "1" "00435" "00435" "2022-02-27 13:18:37" "" "" "SEQ" "DNA" "blood" "" "0000405340" "00404102" "1" "00435" "00435" "2022-02-27 13:30:30" "" "" "SEQ" "DNA" "blood" "" "0000408288" "00407041" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000408289" "00407042" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000409935" "00408673" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ-NG" "DNA" "" "" "0000415340" "00414061" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000415341" "00414062" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000415342" "00414063" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000415343" "00414064" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000429385" "00427972" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood, peripheral blood mononuclear cells" "singleton WES" "0000433971" "00432529" "1" "01741" "01741" "2023-02-24 09:55:55" "" "" "SEQ-NG" "DNA" "" "" "0000436682" "00435207" "1" "01741" "01741" "2023-06-08 13:10:46" "" "" "SEQ-NG" "DNA" "" "" "0000444089" "00442605" "1" "03312" "03312" "2023-11-22 06:57:35" "" "" "SEQ-NG-I" "DNA" "Blood" "Reconfirmed by Sanger sequencing" "0000448933" "00447356" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000457381" "00455765" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457422" "00455806" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457429" "00455813" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 60 "{{screeningid}}" "{{geneid}}" "0000039594" "SPG11" "0000039595" "SPG11" "0000047196" "SPG11" "0000047197" "SPG11" "0000047198" "SPG11" "0000047199" "SPG11" "0000059104" "CYP2U1" "0000059104" "CYP7B1" "0000059104" "GBA2" "0000059104" "SACS" "0000059104" "SPG11" "0000059104" "ZFYVE26" "0000059217" "CYP2U1" "0000059217" "CYP7B1" "0000059217" "GBA2" "0000059217" "SACS" "0000059217" "SPG11" "0000059217" "ZFYVE26" "0000059251" "SPG11" "0000059252" "SPG11" "0000059253" "SPG11" "0000059254" "SPG11" "0000059255" "SPG11" "0000059256" "SPG11" "0000059257" "SPG11" "0000059258" "SPG11" "0000059259" "SPG11" "0000059260" "SPG11" "0000059261" "SPG11" "0000059262" "SPG11" "0000059263" "SPG11" "0000081191" "SPG11" "0000151017" "SPG11" "0000275218" "SPG11" "0000319185" "SPG11" "0000326094" "EIF2C1" "0000373993" "SPG11" "0000375702" "SPG11" "0000375703" "SPG11" "0000375704" "SPG11" "0000375705" "SPG11" "0000375905" "DIAPH3" "0000405127" "SPG11" "0000405135" "SPG11" "0000405147" "SPG11" "0000405161" "SPG11" "0000405163" "SPG11" "0000405286" "SPG11" "0000405287" "SPG11" "0000405289" "SPG11" "0000405297" "SPG11" "0000405300" "SPG11" "0000405336" "SPG11" "0000405337" "SPG11" "0000405338" "SPG11" "0000405339" "SPG11" "0000405340" "SPG11" "0000433971" "SPG11" "0000436682" "SPG11" "0000444089" "SPG11" ## 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 = 468 "{{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}}" "0000067195" "0" "50" "15" "44914964" "44914964" "subst" "0" "01330" "SPG11_000001" "g.44914964A>G" "" "" "" "" "Homozygous state" "Germline" "?" "" "0" "" "" "g.44622766A>G" "" "VUS" "" "0000067196" "1" "70" "15" "44876408" "44876408" "subst" "8.12354E-6" "01330" "SPG11_000002" "g.44876408G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.44584210G>A" "" "likely pathogenic" "" "0000067197" "2" "50" "15" "44876497" "44876497" "subst" "4.89177E-5" "01330" "SPG11_000003" "g.44876497A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.44584299A>G" "" "VUS" "" "0000075866" "1" "57" "15" "44955591" "44955591" "subst" "0" "01330" "SPG11_000004" "g.44955591C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44663393C>T" "" "VUS" "" "0000075867" "1" "57" "15" "44888407" "44888408" "del" "3.65592E-5" "01330" "SPG11_000005" "g.44888407_44888408del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44596209_44596210del" "" "VUS" "" "0000075868" "1" "57" "15" "44876408" "44876408" "subst" "8.12354E-6" "01330" "SPG11_000002" "g.44876408G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44584210G>A" "" "VUS" "" "0000075869" "1" "57" "15" "44858195" "44858195" "subst" "1.22053E-5" "01330" "SPG11_000006" "g.44858195G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44565997G>A" "" "VUS" "" "0000090050" "3" "90" "15" "44862851" "44862851" "subst" "0" "01552" "SPG11_000009" "g.44862851C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.44570653C>A" "" "pathogenic" "" "0000090056" "3" "90" "15" "44859668" "44859668" "del" "0" "01552" "SPG11_000008" "g.44859668del" "" "" "" "" "variant absent in one patient with different phenotype (mental impairment, no spasticity)" "Germline" "yes" "" "0" "" "" "g.44567470del" "" "pathogenic" "" "0000090058" "3" "90" "15" "44892783" "44892783" "subst" "0" "01552" "SPG11_000007" "g.44892783T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.44600585T>A" "" "pathogenic" "" "0000090115" "3" "90" "15" "44862196" "44870518" "del" "0" "01500" "SPG11_000010" "g.44862196_44870518del" "" "resubmitted as Güther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44569998_44578320del" "" "pathogenic" "" "0000090116" "1" "90" "15" "44913774" "44924826" "del" "0" "01500" "SPG11_000012" "g.44913774_44924826del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44621576_44632628del" "" "pathogenic" "" "0000090117" "2" "90" "15" "44907756" "44907756" "del" "0" "01500" "SPG11_000011" "g.44907756del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44615558del" "" "pathogenic" "" "0000090118" "1" "90" "15" "44862196" "44870518" "del" "0" "01500" "SPG11_000010" "g.44862196_44870518del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44569998_44578320del" "" "pathogenic" "" "0000090119" "2" "90" "15" "44858471" "44858471" "subst" "4.06355E-6" "01500" "SPG11_000013" "g.44858471G>A" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44566273G>A" "" "pathogenic" "" "0000090120" "1" "90" "15" "44877680" "44878721" "del" "0" "01500" "SPG11_000014" "g.44877680_44878721del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44585482_44586523del" "" "pathogenic" "" "0000090121" "2" "90" "15" "44943870" "44943870" "dup" "0" "01500" "SPG11_000015" "g.44943870dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44651672dup" "" "pathogenic" "" "0000090122" "0" "90" "15" "44877525" "44883907" "dup" "0" "01500" "SPG11_000016" "g.44877525_44883907dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44585327_44591709dup" "" "pathogenic" "" "0000090123" "1" "90" "15" "44877525" "44883907" "dup" "0" "01500" "SPG11_000016" "g.44877525_44883907dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44585327_44591709dup" "" "pathogenic" "" "0000090124" "2" "90" "15" "44907612" "44907614" "del" "0" "01500" "SPG11_000017" "g.44907612_44907614del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "2987_2989delGTT" "" "Germline" "" "" "0" "" "" "g.44615414_44615416del" "" "pathogenic" "" "0000090125" "1" "90" "15" "44877542" "44878597" "del" "0" "01500" "SPG11_000018" "g.44877542_44878597del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44585344_44586399del" "" "pathogenic" "" "0000090126" "2" "90" "15" "44905705" "44905705" "dup" "0" "01500" "SPG11_000019" "g.44905705dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44613507dup" "" "pathogenic" "" "0000090127" "1" "90" "15" "44862196" "44870518" "del" "0" "01500" "SPG11_000010" "g.44862196_44870518del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44569998_44578320del" "" "pathogenic" "" "0000090128" "2" "90" "15" "44943910" "44943910" "subst" "4.06164E-6" "01500" "SPG11_000020" "g.44943910G>C" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44651712G>C" "" "pathogenic" "" "0000090129" "1" "90" "15" "44862196" "44870518" "del" "0" "01500" "SPG11_000010" "g.44862196_44870518del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44569998_44578320del" "" "pathogenic" "" "0000090130" "2" "90" "15" "44905705" "44905705" "dup" "0" "01500" "SPG11_000019" "g.44905705dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44613507dup" "" "pathogenic" "" "0000090131" "1" "90" "15" "44862196" "44870518" "del" "0" "01500" "SPG11_000010" "g.44862196_44870518del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44569998_44578320del" "" "pathogenic" "" "0000090132" "2" "90" "15" "44949428" "44949429" "del" "6.49783E-5" "01500" "SPG11_000021" "g.44949428_44949429del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "733_734delAT" "" "Germline" "" "" "0" "" "" "g.44657230_44657231del" "" "pathogenic" "" "0000090133" "2" "90" "15" "44877525" "44883907" "dup" "0" "01500" "SPG11_000016" "g.44877525_44883907dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44585327_44591709dup" "" "pathogenic" "" "0000090134" "1" "90" "15" "44920983" "44920983" "subst" "2.44101E-5" "01500" "SPG11_000023" "g.44920983G>A" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44628785G>A" "" "pathogenic" "" "0000090135" "1" "90" "15" "44856482" "44859191" "del" "0" "01500" "SPG11_000022" "g.44856482_44859191del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44564284_44566993del" "" "pathogenic" "" "0000090136" "2" "90" "15" "44905705" "44905705" "dup" "0" "01500" "SPG11_000019" "g.44905705dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44613507dup" "" "pathogenic" "" "0000130277" "3" "90" "15" "44905652" "44905652" "subst" "8.12572E-6" "01758" "SPG11_000024" "g.44905652G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.44613454G>A" "" "pathogenic" "ACMG" "0000237847" "3" "90" "15" "44888319" "44888319" "subst" "0" "01807" "SPG11_000025" "g.44888319G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44596121G>A" "" "pathogenic" "" "0000244176" "3" "90" "15" "44876704" "44876704" "del" "0" "00006" "SPG11_000026" "g.44876704del" "" "{PMID:Karaca 2015:26539891}" "" "NM_001160227: c.5175delA; p.Q1725fs" "" "Germline" "" "" "0" "" "" "g.44584506del" "" "pathogenic" "" "0000247310" "0" "10" "15" "44925740" "44925740" "subst" "0.0111016" "02330" "SPG11_000085" "g.44925740A>C" "" "" "" "SPG11(NM_025137.4):c.1698T>G (p.D566E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44633542A>C" "" "benign" "" "0000247316" "0" "10" "15" "44943757" "44943757" "subst" "0.467685" "02330" "SPG11_000088" "g.44943757A>G" "" "" "" "SPG11(NM_025137.4):c.1388T>C (p.F463S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651559A>G" "" "benign" "" "0000248296" "0" "10" "15" "44943757" "44943757" "subst" "0.467685" "02325" "SPG11_000088" "g.44943757A>G" "" "" "" "SPG11(NM_025137.4):c.1388T>C (p.F463S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651559A>G" "" "benign" "" "0000249397" "0" "30" "15" "44862732" "44862732" "subst" "0" "02325" "SPG11_000043" "g.44862732A>G" "" "" "" "SPG11(NM_025137.4):c.6468T>C (p.Y2156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44570534A>G" "" "likely benign" "" "0000249398" "0" "30" "15" "44876082" "44876082" "subst" "8.53027E-5" "02325" "SPG11_000047" "g.44876082A>G" "" "" "" "SPG11(NM_025137.4):c.5796T>C (p.(His1932=), p.H1932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44583884A>G" "" "likely benign" "" "0000249435" "0" "30" "15" "44891002" "44891002" "subst" "1.2194E-5" "02325" "SPG11_000067" "g.44891002A>G" "" "" "" "SPG11(NM_025137.4):c.3719T>C (p.I1240T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44598804A>G" "" "likely benign" "" "0000249444" "0" "30" "15" "44918698" "44918698" "subst" "9.37108E-5" "02325" "SPG11_000084" "g.44918698A>G" "" "" "" "SPG11(NM_025137.4):c.2075T>C (p.I692T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44626500A>G" "" "likely benign" "" "0000250016" "0" "10" "15" "44925740" "44925740" "subst" "0.0111016" "02329" "SPG11_000085" "g.44925740A>C" "" "" "" "SPG11(NM_025137.4):c.1698T>G (p.D566E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44633542A>C" "" "benign" "" "0000250031" "0" "10" "15" "44943757" "44943757" "subst" "0.467685" "02329" "SPG11_000088" "g.44943757A>G" "" "" "" "SPG11(NM_025137.4):c.1388T>C (p.F463S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651559A>G" "" "benign" "" "0000250317" "0" "30" "15" "44898257" "44898257" "subst" "0.000394075" "02329" "SPG11_000069" "g.44898257A>G" "" "" "" "SPG11(NM_025137.3):c.3486T>C (p.F1162=), SPG11(NM_025137.4):c.3486T>C (p.F1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44606059A>G" "" "likely benign" "" "0000250536" "0" "50" "15" "44887474" "44887474" "subst" "0" "02329" "SPG11_000059" "g.44887474A>C" "" "" "" "SPG11(NM_025137.4):c.4618T>G (p.F1540V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44595276A>C" "" "VUS" "" "0000250876" "0" "10" "15" "44925740" "44925740" "subst" "0.0111016" "02326" "SPG11_000085" "g.44925740A>C" "" "" "" "SPG11(NM_025137.4):c.1698T>G (p.D566E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44633542A>C" "" "benign" "" "0000251074" "0" "10" "15" "44881546" "44881546" "subst" "0.00211286" "02326" "SPG11_000054" "g.44881546A>G" "" "" "" "SPG11(NM_025137.4):c.4810T>C (p.F1604L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44589348A>G" "" "benign" "" "0000251113" "0" "10" "15" "44889073" "44889073" "subst" "2.437E-5" "02326" "SPG11_000062" "g.44889073A>G" "" "" "" "SPG11(NM_025137.4):c.4070T>C (p.L1357P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44596875A>G" "" "benign" "" "0000251582" "0" "10" "15" "44888270" "44888270" "subst" "0.00104514" "02326" "SPG11_000060" "g.44888270A>G" "" "" "" "SPG11(NM_025137.4):c.4434+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44596072A>G" "" "benign" "" "0000252244" "0" "30" "15" "44881618" "44881618" "subst" "0.00124022" "02326" "SPG11_000056" "g.44881618A>G" "" "" "" "SPG11(NM_025137.3):c.4744-6T>C, SPG11(NM_025137.4):c.4744-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44589420A>G" "" "likely benign" "" "0000253886" "0" "10" "15" "44952826" "44952826" "del" "0" "01943" "SPG11_000099" "g.44952826del" "" "" "" "SPG11(NM_001160227.1):c.258-6delT (p.(=)), SPG11(NM_025137.3):c.258-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44660628del" "" "benign" "" "0000254499" "0" "30" "15" "44952632" "44952632" "subst" "1.22056E-5" "01943" "SPG11_000096" "g.44952632A>G" "" "" "" "SPG11(NM_025137.3):c.440T>C (p.I147T), SPG11(NM_025137.4):c.440T>C (p.I147T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44660434A>G" "" "likely benign" "" "0000296126" "0" "10" "15" "44944037" "44944037" "subst" "0.0173786" "02330" "SPG11_000093" "g.44944037C>T" "" "" "" "SPG11(NM_001160227.1):c.1108G>A (p.(Glu370Lys)), SPG11(NM_025137.4):c.1108G>A (p.E370K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651839C>T" "" "benign" "" "0000296127" "0" "50" "15" "44943907" "44943907" "subst" "0" "02330" "SPG11_000091" "g.44943907C>T" "" "" "" "SPG11(NM_025137.4):c.1238G>A (p.W413*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651709C>T" "" "VUS" "" "0000296128" "0" "10" "15" "44918690" "44918690" "subst" "0.0131374" "02330" "SPG11_000083" "g.44918690C>T" "" "" "" "SPG11(NM_025137.4):c.2083G>A (p.A695T, p.(Ala695Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44626492C>T" "" "benign" "" "0000296129" "0" "10" "15" "44914164" "44914164" "del" "0" "02330" "SPG11_000081" "g.44914164del" "" "" "" "SPG11(NM_025137.4):c.2445-20delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44621966del" "" "benign" "" "0000296130" "0" "10" "15" "44907562" "44907562" "subst" "0.0102482" "02330" "SPG11_000074" "g.44907562T>C" "" "" "" "SPG11(NM_025137.4):c.3037A>G (p.K1013E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44615364T>C" "" "benign" "" "0000296131" "0" "50" "15" "44858173" "44858173" "subst" "0.000121983" "02330" "SPG11_000033" "g.44858173C>T" "" "" "" "SPG11(NM_025137.3):c.6878G>A (p.R2293Q), SPG11(NM_025137.4):c.6878G>A (p.R2293Q, p.(Arg2293Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44565975C>T" "" "VUS" "" "0000298455" "0" "10" "15" "44918690" "44918690" "subst" "0.0131374" "02325" "SPG11_000083" "g.44918690C>T" "" "" "" "SPG11(NM_025137.4):c.2083G>A (p.A695T, p.(Ala695Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44626492C>T" "" "benign" "" "0000298456" "0" "30" "15" "44914962" "44914962" "subst" "3.25203E-5" "02325" "SPG11_000082" "g.44914962G>A" "" "" "" "SPG11(NM_025137.4):c.2280C>T (p.C760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44622764G>A" "" "likely benign" "" "0000298457" "0" "30" "15" "44907702" "44907702" "subst" "0.000170693" "02325" "SPG11_000076" "g.44907702C>T" "" "" "" "SPG11(NM_025137.3):c.2897G>A (p.R966H), SPG11(NM_025137.4):c.2897G>A (p.R966H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44615504C>T" "" "likely benign" "" "0000298458" "0" "10" "15" "44907562" "44907562" "subst" "0.0102482" "02325" "SPG11_000074" "g.44907562T>C" "" "" "" "SPG11(NM_025137.4):c.3037A>G (p.K1013E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44615364T>C" "" "benign" "" "0000298459" "0" "50" "15" "44905678" "44905678" "subst" "3.25045E-5" "02325" "SPG11_000072" "g.44905678G>A" "" "" "" "SPG11(NM_025137.4):c.3095C>T (p.P1032L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44613480G>A" "" "VUS" "" "0000298460" "0" "30" "15" "44903064" "44903064" "subst" "4.06213E-6" "02325" "SPG11_000071" "g.44903064T>C" "" "" "" "SPG11(NM_025137.4):c.3265A>G (p.M1089V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44610866T>C" "" "likely benign" "" "0000298461" "0" "50" "15" "44890898" "44890898" "subst" "4.06428E-6" "02325" "SPG11_000065" "g.44890898C>G" "" "" "" "SPG11(NM_025137.4):c.3823G>C (p.A1275P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44598700C>G" "" "VUS" "" "0000298462" "0" "30" "15" "44952677" "44952677" "subst" "0.000223432" "02325" "SPG11_000097" "g.44952677C>T" "" "" "" "SPG11(NM_025137.3):c.395G>A (p.S132N), SPG11(NM_025137.4):c.395G>A (p.S132N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44660479C>T" "" "likely benign" "" "0000298464" "0" "30" "15" "44877820" "44877821" "del" "0" "02325" "SPG11_000049" "g.44877820_44877821del" "" "" "" "SPG11(NM_025137.4):c.5121+32_5121+33delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44585622_44585623del" "" "likely benign" "" "0000298465" "0" "30" "15" "44865000" "44865000" "subst" "0.00296836" "02325" "SPG11_000046" "g.44865000T>C" "" "" "" "SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572802T>C" "" "likely benign" "" "0000298466" "0" "30" "15" "44864966" "44864966" "subst" "0.00668399" "02325" "SPG11_000045" "g.44864966C>A" "" "" "" "SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572768C>A" "" "likely benign" "" "0000298467" "0" "30" "15" "44862705" "44862705" "subst" "9.77955E-5" "02325" "SPG11_000041" "g.44862705G>A" "" "" "" "SPG11(NM_025137.4):c.6477+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44570507G>A" "" "likely benign" "" "0000298468" "0" "10" "15" "44858522" "44858524" "del" "0" "02325" "SPG11_000039" "g.44858522_44858524del" "" "" "" "SPG11(NM_025137.4):c.6755-17_6755-15delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44566324_44566326del" "" "benign" "" "0000299682" "0" "10" "15" "44944037" "44944037" "subst" "0.0173786" "02329" "SPG11_000093" "g.44944037C>T" "" "" "" "SPG11(NM_001160227.1):c.1108G>A (p.(Glu370Lys)), SPG11(NM_025137.4):c.1108G>A (p.E370K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651839C>T" "" "benign" "" "0000299683" "0" "30" "15" "44943897" "44943897" "subst" "4.46737E-5" "02329" "SPG11_000090" "g.44943897C>A" "" "" "" "SPG11(NM_025137.4):c.1248G>T (p.M416I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651699C>A" "" "likely benign" "" "0000299684" "0" "30" "15" "44955830" "44955830" "subst" "0.00126895" "02329" "SPG11_000104" "g.44955830C>T" "" "" "" "SPG11(NM_025137.3):c.16G>A (p.G6R), SPG11(NM_025137.4):c.16G>A (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663632C>T" "" "likely benign" "" "0000299685" "0" "30" "15" "44955670" "44955670" "subst" "0.00180496" "02329" "SPG11_000101" "g.44955670G>A" "" "" "" "SPG11(NM_025137.3):c.176C>T (p.A59V), SPG11(NM_025137.4):c.176C>T (p.A59V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663472G>A" "" "likely benign" "" "0000299686" "0" "10" "15" "44918690" "44918690" "subst" "0.0131374" "02329" "SPG11_000083" "g.44918690C>T" "" "" "" "SPG11(NM_025137.4):c.2083G>A (p.A695T, p.(Ala695Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44626492C>T" "" "benign" "" "0000299688" "0" "10" "15" "44914164" "44914164" "del" "0" "02329" "SPG11_000081" "g.44914164del" "" "" "" "SPG11(NM_025137.4):c.2445-20delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44621966del" "" "benign" "" "0000299689" "0" "10" "15" "44914164" "44914164" "dup" "0" "02329" "SPG11_000080" "g.44914164dup" "" "" "" "SPG11(NM_025137.4):c.2445-20dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44621966dup" "" "benign" "" "0000299690" "0" "50" "15" "44914017" "44914017" "subst" "4.87733E-5" "02329" "SPG11_000078" "g.44914017C>T" "" "" "" "SPG11(NM_025137.4):c.2560G>A (p.A854T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44621819C>T" "" "VUS" "" "0000299691" "0" "30" "15" "44955576" "44955576" "subst" "0.000536253" "02329" "SPG11_000100" "g.44955576C>T" "" "" "" "SPG11(NM_025137.4):c.257+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663378C>T" "" "likely benign" "" "0000299693" "0" "50" "15" "44907615" "44907615" "subst" "2.43817E-5" "02329" "SPG11_000075" "g.44907615T>C" "" "" "" "SPG11(NM_025137.4):c.2984A>G (p.Y995C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44615417T>C" "" "VUS" "" "0000299694" "0" "10" "15" "44907562" "44907562" "subst" "0.0102482" "02329" "SPG11_000074" "g.44907562T>C" "" "" "" "SPG11(NM_025137.4):c.3037A>G (p.K1013E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44615364T>C" "" "benign" "" "0000299695" "0" "30" "15" "44905680" "44905680" "subst" "0" "02329" "SPG11_000073" "g.44905680G>C" "" "" "" "SPG11(NM_025137.4):c.3093C>G (p.H1031Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44613482G>C" "" "likely benign" "" "0000299696" "0" "30" "15" "44952744" "44952744" "subst" "6.90445E-5" "02329" "SPG11_000098" "g.44952744T>C" "" "" "" "SPG11(NM_025137.4):c.328A>G (p.N110D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44660546T>C" "" "likely benign" "" "0000299697" "0" "30" "15" "44890903" "44890903" "subst" "0.00260112" "02329" "SPG11_000066" "g.44890903T>C" "" "" "" "SPG11(NM_001160227.1):c.3818A>G (p.(Lys1273Arg)), SPG11(NM_025137.4):c.3818A>G (p.K1273R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44598705T>C" "" "likely benign" "" "0000299698" "0" "30" "15" "44889091" "44889091" "subst" "0.000568893" "02329" "SPG11_000063" "g.44889091C>T" "" "" "" "SPG11(NM_025137.4):c.4052G>A (p.R1351K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44596893C>T" "" "likely benign" "" "0000299699" "0" "30" "15" "44887440" "44887440" "subst" "1.22008E-5" "02329" "SPG11_000058" "g.44887440G>A" "" "" "" "SPG11(NM_025137.4):c.4635+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44595242G>A" "" "likely benign" "" "0000299700" "0" "30" "15" "44881603" "44881603" "subst" "0" "02329" "SPG11_000055" "g.44881603C>A" "" "" "" "SPG11(NM_025137.4):c.4753G>T (p.A1585S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44589405C>A" "" "likely benign" "" "0000299701" "0" "50" "15" "44877881" "44877881" "subst" "1.62488E-5" "02329" "SPG11_000050" "g.44877881C>T" "" "" "" "SPG11(NM_025137.4):c.5074G>A (p.V1692I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44585683C>T" "" "VUS" "" "0000299702" "0" "10" "15" "44865000" "44865000" "subst" "0.00296836" "02329" "SPG11_000046" "g.44865000T>C" "" "" "" "SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572802T>C" "" "benign" "" "0000299703" "0" "10" "15" "44864966" "44864966" "subst" "0.00668399" "02329" "SPG11_000045" "g.44864966C>A" "" "" "" "SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572768C>A" "" "benign" "" "0000299704" "0" "30" "15" "44864905" "44864905" "subst" "0.00223755" "02329" "SPG11_000044" "g.44864905C>T" "" "" "" "SPG11(NM_025137.3):c.6319G>A (p.V2107I), SPG11(NM_025137.4):c.6319G>A (p.V2107I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572707C>T" "" "likely benign" "" "0000299705" "0" "10" "15" "44862714" "44862714" "del" "0" "02329" "SPG11_000042" "g.44862714del" "" "" "" "SPG11(NM_025137.4):c.6477+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44570516del" "" "benign" "" "0000299706" "0" "30" "15" "44859603" "44859603" "subst" "0.00467362" "02329" "SPG11_000040" "g.44859603T>C" "" "" "" "SPG11(NM_025137.4):c.6754+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44567405T>C" "" "likely benign" "" "0000299707" "0" "30" "15" "44858499" "44858499" "subst" "0.000378104" "02329" "SPG11_000037" "g.44858499G>C" "" "" "" "SPG11(NM_025137.3):c.6759C>G (p.D2253E), SPG11(NM_025137.4):c.6759C>G (p.D2253E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44566301G>C" "" "likely benign" "" "0000299708" "0" "30" "15" "44858469" "44858469" "subst" "4.06332E-6" "02329" "SPG11_000036" "g.44858469T>C" "" "" "" "SPG11(NM_025137.4):c.6789A>G (p.Q2263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44566271T>C" "" "likely benign" "" "0000299709" "0" "10" "15" "44855454" "44855454" "subst" "0.00681637" "02329" "SPG11_000028" "g.44855454C>T" "" "" "" "SPG11(NM_025137.4):c.7197G>A (p.K2399=, p.(Lys2399=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44563256C>T" "" "benign" "" "0000299710" "0" "30" "15" "44855395" "44855395" "subst" "0.00295726" "02329" "SPG11_000027" "g.44855395T>C" "" "" "" "SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44563197T>C" "" "likely benign" "" "0000302412" "0" "10" "15" "44944037" "44944037" "subst" "0.0173786" "02326" "SPG11_000093" "g.44944037C>T" "" "" "" "SPG11(NM_001160227.1):c.1108G>A (p.(Glu370Lys)), SPG11(NM_025137.4):c.1108G>A (p.E370K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651839C>T" "" "benign" "" "0000302413" "0" "10" "15" "44943797" "44943797" "subst" "0.0185108" "02326" "SPG11_000089" "g.44943797T>C" "" "" "" "SPG11(NM_025137.4):c.1348A>G (p.I450V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651599T>C" "" "benign" "" "0000302414" "0" "10" "15" "44918690" "44918690" "subst" "0.0131374" "02326" "SPG11_000083" "g.44918690C>T" "" "" "" "SPG11(NM_025137.4):c.2083G>A (p.A695T, p.(Ala695Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44626492C>T" "" "benign" "" "0000302415" "0" "10" "15" "44955823" "44955823" "subst" "5.73521E-5" "02326" "SPG11_000103" "g.44955823G>C" "" "" "" "SPG11(NM_025137.4):c.23C>G (p.A8G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663625G>C" "" "benign" "" "0000302416" "0" "30" "15" "44955576" "44955576" "subst" "0.000536253" "02326" "SPG11_000100" "g.44955576C>T" "" "" "" "SPG11(NM_025137.4):c.257+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663378C>T" "" "likely benign" "" "0000302417" "0" "10" "15" "44907562" "44907562" "subst" "0.0102482" "02326" "SPG11_000074" "g.44907562T>C" "" "" "" "SPG11(NM_025137.4):c.3037A>G (p.K1013E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44615364T>C" "" "benign" "" "0000302418" "0" "10" "15" "44890903" "44890903" "subst" "0.00260112" "02326" "SPG11_000066" "g.44890903T>C" "" "" "" "SPG11(NM_001160227.1):c.3818A>G (p.(Lys1273Arg)), SPG11(NM_025137.4):c.3818A>G (p.K1273R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44598705T>C" "" "benign" "" "0000302419" "0" "30" "15" "44952677" "44952677" "subst" "0.000223432" "02326" "SPG11_000097" "g.44952677C>T" "" "" "" "SPG11(NM_025137.3):c.395G>A (p.S132N), SPG11(NM_025137.4):c.395G>A (p.S132N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44660479C>T" "" "likely benign" "" "0000302420" "0" "10" "15" "44955803" "44955803" "subst" "0" "02326" "SPG11_000102" "g.44955803C>T" "" "" "" "SPG11(NM_025137.4):c.43G>A (p.G15S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663605C>T" "" "benign" "" "0000302421" "0" "30" "15" "44878032" "44878032" "subst" "0.0010325" "02326" "SPG11_000051" "g.44878032C>G" "" "" "" "SPG11(NM_025137.3):c.4923G>C (p.K1641N), SPG11(NM_025137.4):c.4923G>C (p.K1641N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44585834C>G" "" "likely benign" "" "0000302422" "0" "10" "15" "44865000" "44865000" "subst" "0.00296836" "02326" "SPG11_000046" "g.44865000T>C" "" "" "" "SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572802T>C" "" "benign" "" "0000302423" "0" "10" "15" "44864905" "44864905" "subst" "0.00223755" "02326" "SPG11_000044" "g.44864905C>T" "" "" "" "SPG11(NM_025137.3):c.6319G>A (p.V2107I), SPG11(NM_025137.4):c.6319G>A (p.V2107I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572707C>T" "" "benign" "" "0000302424" "0" "30" "15" "44862714" "44862714" "del" "0" "02326" "SPG11_000042" "g.44862714del" "" "" "" "SPG11(NM_025137.4):c.6477+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44570516del" "" "likely benign" "" "0000302425" "0" "10" "15" "44858522" "44858524" "del" "0" "02326" "SPG11_000038" "g.44858522_44858524del" "" "" "" "SPG11(NM_025137.4):c.6755-17_6755-15delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44566324_44566326del" "" "benign" "" "0000302426" "0" "10" "15" "44858098" "44858098" "subst" "1.24177E-5" "02326" "SPG11_000031" "g.44858098C>T" "" "" "" "SPG11(NM_025137.4):c.6953G>A (p.R2318H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44565900C>T" "" "benign" "" "0000302427" "0" "90" "15" "44858055" "44858055" "subst" "0" "02326" "SPG11_000030" "g.44858055G>T" "" "" "" "SPG11(NM_025137.4):c.6996C>A (p.Y2332*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44565857G>T" "" "pathogenic" "" "0000302428" "0" "30" "15" "44856827" "44856827" "subst" "0.00139753" "02326" "SPG11_000029" "g.44856827G>A" "" "" "" "SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44564629G>A" "" "likely benign" "" "0000302429" "0" "30" "15" "44855395" "44855395" "subst" "0.00295726" "02326" "SPG11_000027" "g.44855395T>C" "" "" "" "SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44563197T>C" "" "likely benign" "" "0000308777" "0" "30" "15" "44943927" "44943927" "subst" "4.06171E-6" "01943" "SPG11_000092" "g.44943927G>C" "" "" "" "SPG11(NM_025137.3):c.1218C>G (p.T406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651729G>C" "" "likely benign" "" "0000308778" "0" "30" "15" "44941213" "44941213" "subst" "0.000126353" "01943" "SPG11_000087" "g.44941213T>C" "" "" "" "SPG11(NM_025137.3):c.1457-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44649015T>C" "" "likely benign" "" "0000308779" "0" "30" "15" "44955670" "44955670" "subst" "0.00180496" "01943" "SPG11_000101" "g.44955670G>A" "" "" "" "SPG11(NM_025137.3):c.176C>T (p.A59V), SPG11(NM_025137.4):c.176C>T (p.A59V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663472G>A" "" "likely benign" "" "0000308780" "0" "30" "15" "44903029" "44903029" "subst" "4.06227E-6" "01943" "SPG11_000070" "g.44903029T>C" "" "" "" "SPG11(NM_025137.3):c.3291+9A>G, SPG11(NM_025137.4):c.3291+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44610831T>C" "" "likely benign" "" "0000308781" "0" "50" "15" "44892732" "44892732" "subst" "4.06174E-6" "01943" "SPG11_000068" "g.44892732G>A" "" "" "" "SPG11(NM_025137.3):c.3619C>T (p.R1207W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44600534G>A" "" "VUS" "" "0000308782" "0" "30" "15" "44888350" "44888350" "subst" "0.000113909" "01943" "SPG11_000061" "g.44888350C>G" "" "" "" "SPG11(NM_001160227.1):c.4365G>C (p.(Trp1455Cys)), SPG11(NM_025137.3):c.4365G>C (p.W1455C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44596152C>G" "" "likely benign" "" "0000308783" "0" "10" "15" "44884585" "44884585" "subst" "0.0012923" "01943" "SPG11_000057" "g.44884585T>C" "" "" "" "SPG11(NM_025137.3):c.4687A>G (p.R1563G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44592387T>C" "" "benign" "" "0000308784" "0" "50" "15" "44881467" "44881467" "subst" "0" "01943" "SPG11_000052" "g.44881467T>C" "" "" "" "SPG11(NM_025137.3):c.4889A>G (p.E1630G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44589269T>C" "" "VUS" "" "0000308785" "0" "90" "15" "44876525" "44876525" "subst" "0" "01943" "SPG11_000048" "g.44876525G>A" "" "" "" "SPG11(NM_025137.3):c.5353C>T (p.Q1785*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44584327G>A" "" "pathogenic" "" "0000308786" "0" "30" "15" "44865000" "44865000" "subst" "0.00296836" "01943" "SPG11_000046" "g.44865000T>C" "" "" "" "SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572802T>C" "" "likely benign" "" "0000308787" "0" "30" "15" "44864966" "44864966" "subst" "0.00668399" "01943" "SPG11_000045" "g.44864966C>A" "" "" "" "SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572768C>A" "" "likely benign" "" "0000308789" "0" "50" "15" "44858174" "44858174" "subst" "0.00063042" "01943" "SPG11_000034" "g.44858174G>A" "" "" "" "SPG11(NM_025137.3):c.6877C>T (p.R2293W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44565976G>A" "" "VUS" "" "0000308790" "0" "50" "15" "44858173" "44858173" "subst" "0.000121983" "01943" "SPG11_000033" "g.44858173C>T" "" "" "" "SPG11(NM_025137.3):c.6878G>A (p.R2293Q), SPG11(NM_025137.4):c.6878G>A (p.R2293Q, p.(Arg2293Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44565975C>T" "" "VUS" "" "0000308791" "0" "30" "15" "44858169" "44858169" "subst" "2.84613E-5" "01943" "SPG11_000032" "g.44858169G>A" "" "" "" "SPG11(NM_025137.3):c.6882C>T (p.L2294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44565971G>A" "" "likely benign" "" "0000311483" "0" "30" "15" "44949354" "44949354" "subst" "0.00604" "02325" "SPG11_000095" "g.44949354C>T" "" "" "" "SPG11(NM_025137.3):c.808G>A (p.(Val270Ile)), SPG11(NM_025137.4):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44657156C>T" "" "likely benign" "" "0000313174" "0" "10" "15" "44949354" "44949354" "subst" "0.00604" "02329" "SPG11_000095" "g.44949354C>T" "" "" "" "SPG11(NM_025137.3):c.808G>A (p.(Val270Ile)), SPG11(NM_025137.4):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44657156C>T" "" "benign" "" "0000313870" "0" "10" "15" "44949354" "44949354" "subst" "0.00604" "02326" "SPG11_000095" "g.44949354C>T" "" "" "" "SPG11(NM_025137.3):c.808G>A (p.(Val270Ile)), SPG11(NM_025137.4):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44657156C>T" "" "benign" "" "0000313871" "0" "30" "15" "44949329" "44949329" "subst" "0.0080676" "02326" "SPG11_000094" "g.44949329T>C" "" "" "" "SPG11(NM_025137.4):c.833A>G (p.N278S, p.(Asn278Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44657131T>C" "" "likely benign" "" "0000324069" "0" "50" "15" "44925833" "44925833" "subst" "0.000338646" "01804" "SPG11_000086" "g.44925833G>A" "" "" "" "SPG11(NM_001160227.1):c.1605C>T (p.(=)), SPG11(NM_025137.4):c.1605C>T (p.A535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44633635G>A" "" "VUS" "" "0000324070" "0" "50" "15" "44952826" "44952826" "del" "0" "01804" "SPG11_000099" "g.44952826del" "" "" "" "SPG11(NM_001160227.1):c.258-6delT (p.(=)), SPG11(NM_025137.3):c.258-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44660628del" "" "VUS" "" "0000338115" "0" "90" "15" "44855500" "44855500" "subst" "0.000105669" "02327" "SPG11_000105" "g.44855500C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44563302C>G" "" "pathogenic" "" "0000338118" "0" "90" "15" "44905627" "44905627" "subst" "0" "02327" "SPG11_000123" "g.44905627C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44613429C>T" "" "pathogenic" "" "0000338120" "0" "90" "15" "44914925" "44914925" "subst" "2.84574E-5" "02327" "SPG11_000127" "g.44914925C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44622727C>T" "" "pathogenic" "" "0000340100" "0" "10" "15" "44855454" "44855454" "subst" "0.00681637" "02327" "SPG11_000028" "g.44855454C>T" "" "" "" "SPG11(NM_025137.4):c.7197G>A (p.K2399=, p.(Lys2399=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44563256C>T" "" "benign" "" "0000340102" "0" "10" "15" "44900675" "44900675" "subst" "0.0356771" "02327" "SPG11_000122" "g.44900675C>T" "" "" "" "SPG11(NM_025137.4):c.3420G>A (p.L1140=, p.(Leu1140=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44608477C>T" "" "benign" "" "0000342200" "0" "90" "15" "44865850" "44865850" "subst" "4.06276E-6" "02327" "SPG11_000113" "g.44865850G>A" "" "" "" "SPG11(NM_025137.3):c.6100C>T (p.R2034*), SPG11(NM_025137.4):c.6100C>T (p.(Arg2034*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44573652G>A" "" "pathogenic" "" "0000343209" "0" "90" "15" "44920983" "44920983" "subst" "2.44101E-5" "02327" "SPG11_000023" "g.44920983G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44628785G>A" "" "pathogenic" "" "0000343627" "0" "50" "15" "44876328" "44876328" "subst" "4.06197E-6" "02327" "SPG11_000115" "g.44876328G>C" "" "" "" "SPG11(NM_001160227.1):c.5550C>G (p.(Asn1850Lys)), SPG11(NM_025137.3):c.5550C>G (p.N1850K), SPG11(NM_025137.4):c.5550C>G (p.N1850K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44584130G>C" "" "VUS" "" "0000344139" "0" "10" "15" "44925740" "44925740" "subst" "0.0111016" "02327" "SPG11_000085" "g.44925740A>C" "" "" "" "SPG11(NM_025137.4):c.1698T>G (p.D566E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44633542A>C" "" "benign" "" "0000344621" "0" "90" "15" "44876255" "44876255" "subst" "2.4374E-5" "02327" "SPG11_000114" "g.44876255G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44584057G>A" "" "pathogenic" "" "0000344861" "0" "90" "15" "44943713" "44943713" "subst" "0" "02327" "SPG11_000131" "g.44943713G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651515G>A" "" "pathogenic" "" "0000344863" "0" "50" "15" "44943710" "44943710" "subst" "0" "02327" "SPG11_000130" "g.44943710G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651512G>T" "" "VUS" "" "0000344981" "0" "90" "15" "44914431" "44914431" "subst" "1.21928E-5" "02327" "SPG11_000126" "g.44914431G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44622233G>A" "" "pathogenic" "" "0000345147" "0" "90" "15" "44887609" "44887609" "subst" "0" "02327" "SPG11_000121" "g.44887609C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44595411C>A" "" "pathogenic" "" "0000345179" "0" "50" "15" "44877834" "44877834" "subst" "0.000699095" "02327" "SPG11_000117" "g.44877834C>A" "" "" "" "SPG11(NM_025137.4):c.5121G>T (p.E1707D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44585636C>A" "" "VUS" "" "0000345386" "0" "10" "15" "44944037" "44944037" "subst" "0.0173786" "02327" "SPG11_000093" "g.44944037C>T" "" "" "" "SPG11(NM_001160227.1):c.1108G>A (p.(Glu370Lys)), SPG11(NM_025137.4):c.1108G>A (p.E370K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651839C>T" "" "benign" "" "0000346470" "0" "30" "15" "44943894" "44943894" "subst" "4.06118E-6" "02327" "SPG11_000134" "g.44943894G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651696G>A" "" "likely benign" "" "0000346604" "0" "30" "15" "44877977" "44877977" "subst" "1.21869E-5" "02327" "SPG11_000118" "g.44877977T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44585779T>C" "" "likely benign" "" "0000346985" "0" "30" "15" "44864940" "44864940" "subst" "0.000657841" "02327" "SPG11_000110" "g.44864940A>G" "" "" "" "SPG11(NM_025137.3):c.6284T>C (p.L2095S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572742A>G" "" "likely benign" "" "0000347491" "0" "10" "15" "44855395" "44855395" "subst" "0.00295726" "02327" "SPG11_000027" "g.44855395T>C" "" "" "" "SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44563197T>C" "" "benign" "" "0000347964" "0" "10" "15" "44881546" "44881546" "subst" "0.00211286" "02327" "SPG11_000054" "g.44881546A>G" "" "" "" "SPG11(NM_025137.4):c.4810T>C (p.F1604L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44589348A>G" "" "benign" "" "0000348052" "0" "10" "15" "44943757" "44943757" "subst" "0.467685" "02327" "SPG11_000088" "g.44943757A>G" "" "" "" "SPG11(NM_025137.4):c.1388T>C (p.F463S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651559A>G" "" "benign" "" "0000349785" "0" "90" "15" "44944060" "44944060" "subst" "4.0831E-5" "02327" "SPG11_000136" "g.44944060C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651862C>T" "" "pathogenic" "" "0000349864" "0" "90" "15" "44912525" "44912525" "subst" "0" "02327" "SPG11_000124" "g.44912525C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44620327C>T" "" "pathogenic" "" "0000408469" "0" "90" "15" "44865744" "44900870" "del" "0" "02947" "SPG11_000138" "g.(44865019_44865744)_(44900870_44905627)del" "" "{PMID:Giugliano 2018:30373198}" "" "g.44862731_44900870del" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000453952" "3" "90" "15" "44949383" "44949387" "del" "0" "01807" "SPG11_000139" "g.44949383_44949387del" "" "" "" "777_781delTACTT" "" "Unknown" "" "" "0" "" "" "g.44657185_44657189del" "" "pathogenic" "" "0000554348" "0" "30" "15" "44855395" "44855395" "subst" "0.00295726" "01804" "SPG11_000027" "g.44855395T>C" "" "" "" "SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563197T>C" "" "likely benign" "" "0000554350" "0" "10" "15" "44855454" "44855454" "subst" "0.00681637" "02330" "SPG11_000028" "g.44855454C>T" "" "" "" "SPG11(NM_025137.4):c.7197G>A (p.K2399=, p.(Lys2399=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563256C>T" "" "benign" "" "0000554351" "0" "10" "15" "44855454" "44855454" "subst" "0.00681637" "01804" "SPG11_000028" "g.44855454C>T" "" "" "" "SPG11(NM_025137.4):c.7197G>A (p.K2399=, p.(Lys2399=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563256C>T" "" "benign" "" "0000554352" "0" "30" "15" "44855509" "44855513" "dup" "0" "01943" "EIF3J_000002" "g.44855509_44855513dup" "" "" "" "SPG11(NM_025137.3):c.7152-14_7152-10dupGTTTC, SPG11(NM_025137.4):c.7152-14_7152-10dupGTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563311_44563315dup" "" "likely benign" "" "0000554353" "0" "50" "15" "44856764" "44856764" "subst" "0.000207258" "02330" "EIF3J_000003" "g.44856764A>G" "" "" "" "SPG11(NM_025137.3):c.7132T>C (p.F2378L), SPG11(NM_025137.4):c.7132T>C (p.F2378L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564566A>G" "" "VUS" "" "0000554354" "0" "50" "15" "44856764" "44856764" "subst" "0.000207258" "01943" "EIF3J_000003" "g.44856764A>G" "" "" "" "SPG11(NM_025137.3):c.7132T>C (p.F2378L), SPG11(NM_025137.4):c.7132T>C (p.F2378L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564566A>G" "" "VUS" "" "0000554355" "0" "50" "15" "44856764" "44856764" "subst" "0.000207258" "02325" "EIF3J_000003" "g.44856764A>G" "" "" "" "SPG11(NM_025137.3):c.7132T>C (p.F2378L), SPG11(NM_025137.4):c.7132T>C (p.F2378L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564566A>G" "" "VUS" "" "0000554356" "0" "30" "15" "44856764" "44856764" "subst" "0.000207258" "02326" "EIF3J_000003" "g.44856764A>G" "" "" "" "SPG11(NM_025137.3):c.7132T>C (p.F2378L), SPG11(NM_025137.4):c.7132T>C (p.F2378L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564566A>G" "" "likely benign" "" "0000554357" "0" "50" "15" "44856827" "44856827" "subst" "0.00139753" "01804" "SPG11_000029" "g.44856827G>A" "" "" "" "SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564629G>A" "" "VUS" "" "0000554358" "0" "30" "15" "44856873" "44856873" "subst" "0.0204381" "02330" "EIF3J_000004" "g.44856873G>A" "" "" "" "SPG11(NM_025137.4):c.7023C>T (p.Y2341=, p.(Tyr2341=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564675G>A" "" "likely benign" "" "0000554359" "0" "30" "15" "44856873" "44856873" "subst" "0.0204381" "01804" "EIF3J_000004" "g.44856873G>A" "" "" "" "SPG11(NM_025137.4):c.7023C>T (p.Y2341=, p.(Tyr2341=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564675G>A" "" "likely benign" "" "0000554360" "0" "10" "15" "44856873" "44856873" "subst" "0.0204381" "02326" "EIF3J_000004" "g.44856873G>A" "" "" "" "SPG11(NM_025137.4):c.7023C>T (p.Y2341=, p.(Tyr2341=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564675G>A" "" "benign" "" "0000554361" "0" "30" "15" "44858098" "44858098" "subst" "1.24177E-5" "02329" "SPG11_000031" "g.44858098C>T" "" "" "" "SPG11(NM_025137.4):c.6953G>A (p.R2318H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44565900C>T" "" "likely benign" "" "0000554362" "0" "50" "15" "44858101" "44858101" "subst" "8.227E-5" "02330" "EIF3J_000005" "g.44858101C>T" "" "" "" "SPG11(NM_025137.3):c.6950G>A (p.G2317D), SPG11(NM_025137.4):c.6950G>A (p.G2317D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44565903C>T" "" "VUS" "" "0000554364" "0" "30" "15" "44858121" "44858121" "subst" "0" "02329" "EIF3J_000007" "g.44858121G>A" "" "" "" "SPG11(NM_025137.4):c.6930C>T (p.N2310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44565923G>A" "" "likely benign" "" "0000554366" "0" "50" "15" "44858439" "44858440" "ins" "0" "01943" "EIF3J_000008" "g.44858439_44858440insTGT" "" "" "" "SPG11(NM_025137.3):c.6818_6819insACA (p.L2273_D2274insQ)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44566241_44566242insTGT" "" "VUS" "" "0000554368" "0" "30" "15" "44858499" "44858499" "subst" "0.000378104" "01943" "SPG11_000037" "g.44858499G>C" "" "" "" "SPG11(NM_025137.3):c.6759C>G (p.D2253E), SPG11(NM_025137.4):c.6759C>G (p.D2253E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44566301G>C" "" "likely benign" "" "0000554369" "0" "50" "15" "44861597" "44861597" "subst" "1.34153E-5" "02330" "EIF3J_000010" "g.44861597G>A" "" "" "" "SPG11(NM_025137.4):c.6584C>T (p.P2195L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44569399G>A" "" "VUS" "" "0000554370" "0" "30" "15" "44862714" "44862714" "del" "0" "02325" "SPG11_000042" "g.44862714del" "" "" "" "SPG11(NM_025137.4):c.6477+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44570516del" "" "likely benign" "" "0000554371" "0" "30" "15" "44862714" "44862714" "del" "0" "02330" "SPG11_000042" "g.44862714del" "" "" "" "SPG11(NM_025137.4):c.6477+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44570516del" "" "likely benign" "" "0000554372" "0" "30" "15" "44864905" "44864905" "subst" "0.00223755" "01943" "SPG11_000044" "g.44864905C>T" "" "" "" "SPG11(NM_025137.3):c.6319G>A (p.V2107I), SPG11(NM_025137.4):c.6319G>A (p.V2107I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44572707C>T" "" "likely benign" "" "0000554373" "0" "50" "15" "44864940" "44864940" "subst" "0.000657841" "01943" "SPG11_000110" "g.44864940A>G" "" "" "" "SPG11(NM_025137.3):c.6284T>C (p.L2095S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44572742A>G" "" "VUS" "" "0000554374" "0" "30" "15" "44865000" "44865000" "subst" "0.00296836" "02330" "SPG11_000046" "g.44865000T>C" "" "" "" "SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44572802T>C" "" "likely benign" "" "0000554375" "0" "30" "15" "44865735" "44865735" "subst" "0.00097126" "02329" "EIF3J_000011" "g.44865735G>C" "" "" "" "SPG11(NM_025137.4):c.6205+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44573537G>C" "" "likely benign" "" "0000554376" "0" "30" "15" "44867088" "44867088" "dup" "0" "02330" "EIF3J_000012" "g.44867088dup" "" "" "" "SPG11(NM_025137.4):c.6006+15dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44574890dup" "" "likely benign" "" "0000554377" "0" "90" "15" "44867119" "44867122" "del" "0" "02326" "EIF3J_000013" "g.44867119_44867122del" "" "" "" "SPG11(NM_025137.4):c.5989_5992delCTGT (p.L1997Mfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44574921_44574924del" "" "pathogenic" "" "0000554378" "0" "50" "15" "44876328" "44876328" "subst" "4.06197E-6" "01804" "SPG11_000115" "g.44876328G>C" "" "" "" "SPG11(NM_001160227.1):c.5550C>G (p.(Asn1850Lys)), SPG11(NM_025137.3):c.5550C>G (p.N1850K), SPG11(NM_025137.4):c.5550C>G (p.N1850K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44584130G>C" "" "VUS" "" "0000554379" "0" "30" "15" "44876450" "44876450" "subst" "0" "02329" "EIF3J_000014" "g.44876450T>A" "" "" "" "SPG11(NM_025137.4):c.5428A>T (p.T1810S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44584252T>A" "" "likely benign" "" "0000554380" "0" "50" "15" "44876590" "44876590" "subst" "4.06616E-6" "01943" "EIF3J_000015" "g.44876590G>C" "" "" "" "SPG11(NM_025137.3):c.5288C>G (p.P1763R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44584392G>C" "" "VUS" "" "0000554381" "0" "30" "15" "44877822" "44877822" "subst" "0.000118793" "02329" "EIF3J_000016" "g.44877822G>C" "" "" "" "SPG11(NM_025137.4):c.5121+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585624G>C" "" "likely benign" "" "0000554382" "0" "50" "15" "44877834" "44877834" "subst" "0.000699095" "02325" "SPG11_000117" "g.44877834C>A" "" "" "" "SPG11(NM_025137.4):c.5121G>T (p.E1707D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585636C>A" "" "VUS" "" "0000554383" "0" "50" "15" "44877834" "44877834" "subst" "0.000699095" "02329" "SPG11_000117" "g.44877834C>A" "" "" "" "SPG11(NM_025137.4):c.5121G>T (p.E1707D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585636C>A" "" "VUS" "" "0000554384" "0" "50" "15" "44878005" "44878005" "subst" "0" "02325" "EIF3J_000017" "g.44878005C>G" "" "" "" "SPG11(NM_025137.4):c.4950G>C (p.K1650N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585807C>G" "" "VUS" "" "0000554385" "0" "30" "15" "44878032" "44878032" "subst" "0.0010325" "01943" "SPG11_000051" "g.44878032C>G" "" "" "" "SPG11(NM_025137.3):c.4923G>C (p.K1641N), SPG11(NM_025137.4):c.4923G>C (p.K1641N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585834C>G" "" "likely benign" "" "0000554387" "0" "30" "15" "44878053" "44878053" "subst" "4.88238E-5" "01943" "EIF3J_000019" "g.44878053G>A" "" "" "" "SPG11(NM_025137.3):c.4907-5C>T, SPG11(NM_025137.4):c.4907-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585855G>A" "" "likely benign" "" "0000554388" "0" "30" "15" "44878053" "44878053" "subst" "4.88238E-5" "02329" "EIF3J_000019" "g.44878053G>A" "" "" "" "SPG11(NM_025137.3):c.4907-5C>T, SPG11(NM_025137.4):c.4907-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585855G>A" "" "likely benign" "" "0000554389" "0" "90" "15" "44881547" "44881547" "dup" "0" "02325" "SPG11_000119" "g.44881547dup" "" "" "" "SPG11(NM_025137.4):c.4811dupT (p.L1605Pfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44589349dup" "" "pathogenic" "" "0000554390" "0" "30" "15" "44881618" "44881618" "subst" "0.00124022" "02329" "SPG11_000056" "g.44881618A>G" "" "" "" "SPG11(NM_025137.3):c.4744-6T>C, SPG11(NM_025137.4):c.4744-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44589420A>G" "" "likely benign" "" "0000554391" "0" "30" "15" "44887514" "44887514" "subst" "4.06141E-6" "01943" "EIF3J_000020" "g.44887514T>G" "" "" "" "SPG11(NM_025137.3):c.4578A>C (p.T1526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44595316T>G" "" "likely benign" "" "0000554392" "0" "30" "15" "44888350" "44888350" "subst" "0.000113909" "01804" "SPG11_000061" "g.44888350C>G" "" "" "" "SPG11(NM_001160227.1):c.4365G>C (p.(Trp1455Cys)), SPG11(NM_025137.3):c.4365G>C (p.W1455C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44596152C>G" "" "likely benign" "" "0000554393" "0" "30" "15" "44888998" "44888998" "subst" "1.21822E-5" "02329" "EIF3J_000021" "g.44888998T>C" "" "" "" "SPG11(NM_025137.4):c.4145A>G (p.N1382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44596800T>C" "" "likely benign" "" "0000554394" "0" "30" "15" "44890534" "44890536" "del" "0" "01804" "EIF3J_000022" "g.44890534_44890536del" "" "" "" "SPG11(NM_001160227.1):c.3930_3932del (p.(Thr1312del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44598336_44598338del" "" "likely benign" "" "0000554395" "0" "50" "15" "44890898" "44890898" "subst" "4.06428E-6" "02327" "SPG11_000065" "g.44890898C>G" "" "" "" "SPG11(NM_025137.4):c.3823G>C (p.A1275P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44598700C>G" "" "VUS" "" "0000554396" "0" "30" "15" "44890903" "44890903" "subst" "0.00260112" "01804" "SPG11_000066" "g.44890903T>C" "" "" "" "SPG11(NM_001160227.1):c.3818A>G (p.(Lys1273Arg)), SPG11(NM_025137.4):c.3818A>G (p.K1273R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44598705T>C" "" "likely benign" "" "0000554397" "0" "30" "15" "44892802" "44892802" "subst" "4.0622E-5" "02329" "EIF3J_000023" "g.44892802A>C" "" "" "" "SPG11(NM_025137.4):c.3549T>G (p.S1183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44600604A>C" "" "likely benign" "" "0000554398" "0" "10" "15" "44900675" "44900675" "subst" "0.0356771" "02330" "SPG11_000122" "g.44900675C>T" "" "" "" "SPG11(NM_025137.4):c.3420G>A (p.L1140=, p.(Leu1140=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44608477C>T" "" "benign" "" "0000554399" "0" "10" "15" "44900675" "44900675" "subst" "0.0356771" "02329" "SPG11_000122" "g.44900675C>T" "" "" "" "SPG11(NM_025137.4):c.3420G>A (p.L1140=, p.(Leu1140=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44608477C>T" "" "benign" "" "0000554401" "0" "50" "15" "44900783" "44900788" "del" "0" "02330" "EIF3J_000025" "g.44900783_44900788del" "" "" "" "SPG11(NM_025137.4):c.3312_3317delTGAAAA (p.E1105_N1106del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44608585_44608590del" "" "VUS" "" "0000554403" "0" "90" "15" "44907581" "44907581" "subst" "2.84555E-5" "02327" "EIF3J_000026" "g.44907581A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44615383A>T" "" "pathogenic" "" "0000554404" "0" "50" "15" "44907702" "44907702" "subst" "0.000170693" "02330" "SPG11_000076" "g.44907702C>T" "" "" "" "SPG11(NM_025137.3):c.2897G>A (p.R966H), SPG11(NM_025137.4):c.2897G>A (p.R966H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44615504C>T" "" "VUS" "" "0000554406" "0" "30" "15" "44907712" "44907712" "subst" "0.00101614" "01943" "EIF3J_000027" "g.44907712T>G" "" "" "" "SPG11(NM_025137.3):c.2887A>C (p.R963=), SPG11(NM_025137.4):c.2887A>C (p.R963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44615514T>G" "" "likely benign" "" "0000554407" "0" "30" "15" "44907712" "44907712" "subst" "0.00101614" "02325" "EIF3J_000027" "g.44907712T>G" "" "" "" "SPG11(NM_025137.3):c.2887A>C (p.R963=), SPG11(NM_025137.4):c.2887A>C (p.R963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44615514T>G" "" "likely benign" "" "0000554408" "0" "30" "15" "44907712" "44907712" "subst" "0.00101614" "02329" "EIF3J_000027" "g.44907712T>G" "" "" "" "SPG11(NM_025137.3):c.2887A>C (p.R963=), SPG11(NM_025137.4):c.2887A>C (p.R963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44615514T>G" "" "likely benign" "" "0000554409" "0" "70" "15" "44912482" "44912482" "subst" "8.12453E-6" "02330" "EIF3J_000028" "g.44912482G>A" "" "" "" "SPG11(NM_025137.4):c.2740C>T (p.Q914*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620284G>A" "" "likely pathogenic" "" "0000554410" "0" "30" "15" "44912553" "44912553" "subst" "8.12572E-6" "01943" "EIF3J_000029" "g.44912553C>A" "" "" "" "SPG11(NM_025137.3):c.2669G>T (p.R890L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620355C>A" "" "likely benign" "" "0000554411" "0" "30" "15" "44912566" "44912566" "subst" "0.00121891" "02330" "EIF3J_000030" "g.44912566A>G" "" "" "" "SPG11(NM_001160227.1):c.2656T>C (p.(Tyr886His)), SPG11(NM_025137.3):c.2656T>C (p.Y886H), SPG11(NM_025137.4):c.2656T>C (p.Y886H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620368A>G" "" "likely benign" "" "0000554412" "0" "10" "15" "44912566" "44912566" "subst" "0.00121891" "01943" "EIF3J_000030" "g.44912566A>G" "" "" "" "SPG11(NM_001160227.1):c.2656T>C (p.(Tyr886His)), SPG11(NM_025137.3):c.2656T>C (p.Y886H), SPG11(NM_025137.4):c.2656T>C (p.Y886H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620368A>G" "" "benign" "" "0000554413" "0" "30" "15" "44912566" "44912566" "subst" "0.00121891" "01804" "EIF3J_000030" "g.44912566A>G" "" "" "" "SPG11(NM_001160227.1):c.2656T>C (p.(Tyr886His)), SPG11(NM_025137.3):c.2656T>C (p.Y886H), SPG11(NM_025137.4):c.2656T>C (p.Y886H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620368A>G" "" "likely benign" "" "0000554414" "0" "30" "15" "44912609" "44912609" "subst" "3.40278E-5" "01943" "EIF3J_000031" "g.44912609A>G" "" "" "" "SPG11(NM_025137.3):c.2621-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620411A>G" "" "likely benign" "" "0000554415" "0" "30" "15" "44912616" "44912616" "dup" "0" "02329" "EIF3J_000032" "g.44912616dup" "" "" "" "SPG11(NM_025137.4):c.2621-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620418dup" "" "likely benign" "" "0000554416" "0" "30" "15" "44912619" "44912619" "subst" "2.62511E-5" "02329" "EIF3J_000033" "g.44912619C>A" "" "" "" "SPG11(NM_025137.4):c.2621-18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620421C>A" "" "likely benign" "" "0000554417" "0" "30" "15" "44914163" "44914164" "dup" "0" "02329" "EIF3J_000034" "g.44914163_44914164dup" "" "" "" "SPG11(NM_025137.4):c.2445-21_2445-20dupAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44621965_44621966dup" "" "likely benign" "" "0000554418" "0" "10" "15" "44914164" "44914164" "dup" "0" "02330" "SPG11_000080" "g.44914164dup" "" "" "" "SPG11(NM_025137.4):c.2445-20dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44621966dup" "" "benign" "" "0000554419" "0" "30" "15" "44914444" "44914444" "subst" "0" "01943" "EIF3J_000035" "g.44914444T>C" "" "" "" "SPG11(NM_025137.3):c.2418A>G (p.E806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44622246T>C" "" "likely benign" "" "0000554420" "0" "30" "15" "44914485" "44914485" "subst" "0.000969584" "02329" "EIF3J_000036" "g.44914485C>T" "" "" "" "SPG11(NM_025137.4):c.2377G>A (p.V793M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44622287C>T" "" "likely benign" "" "0000554421" "0" "50" "15" "44914544" "44914544" "subst" "0.000119204" "01943" "EIF3J_000037" "g.44914544A>C" "" "" "" "SPG11(NM_025137.3):c.2318T>G (p.V773G), SPG11(NM_025137.4):c.2318T>G (p.V773G, p.(Val773Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44622346A>C" "" "VUS" "" "0000554422" "0" "50" "15" "44914544" "44914544" "subst" "0.000119204" "02329" "EIF3J_000037" "g.44914544A>C" "" "" "" "SPG11(NM_025137.3):c.2318T>G (p.V773G), SPG11(NM_025137.4):c.2318T>G (p.V773G, p.(Val773Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44622346A>C" "" "VUS" "" "0000554423" "0" "30" "15" "44918589" "44918589" "subst" "0" "02329" "EIF3J_000038" "g.44918589C>T" "" "" "" "SPG11(NM_025137.4):c.2184G>A (p.L728=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44626391C>T" "" "likely benign" "" "0000554424" "0" "30" "15" "44918604" "44918604" "subst" "6.91057E-5" "02330" "EIF3J_000039" "g.44918604G>A" "" "" "" "SPG11(NM_025137.4):c.2169C>T (p.G723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44626406G>A" "" "likely benign" "" "0000554425" "0" "10" "15" "44918690" "44918690" "subst" "0.0131374" "01804" "SPG11_000083" "g.44918690C>T" "" "" "" "SPG11(NM_025137.4):c.2083G>A (p.A695T, p.(Ala695Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44626492C>T" "" "benign" "" "0000554426" "0" "30" "15" "44920907" "44920907" "subst" "1.62621E-5" "02329" "EIF3J_000040" "g.44920907T>C" "" "" "" "SPG11(NM_025137.4):c.2027A>G (p.K676R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44628709T>C" "" "likely benign" "" "0000554427" "0" "90" "15" "44921570" "44921570" "dup" "0" "02326" "EIF3J_000041" "g.44921570dup" "" "" "" "SPG11(NM_025137.4):c.1752dupA (p.P585Tfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44629372dup" "" "pathogenic" "" "0000554428" "0" "30" "15" "44925833" "44925833" "subst" "0.000338646" "02329" "SPG11_000086" "g.44925833G>A" "" "" "" "SPG11(NM_001160227.1):c.1605C>T (p.(=)), SPG11(NM_025137.4):c.1605C>T (p.A535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44633635G>A" "" "likely benign" "" "0000554429" "0" "50" "15" "44941108" "44941108" "subst" "0.000195022" "01943" "EIF3J_000042" "g.44941108G>A" "" "" "" "SPG11(NM_025137.3):c.1558C>T (p.L520F), SPG11(NM_025137.4):c.1558C>T (p.L520F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44648910G>A" "" "VUS" "" "0000554430" "0" "50" "15" "44941137" "44941137" "subst" "4.06345E-6" "01804" "EIF3J_000043" "g.44941137C>T" "" "" "" "SPG11(NM_001160227.1):c.1529G>A (p.(Ser510Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44648939C>T" "" "VUS" "" "0000554431" "0" "50" "15" "44943761" "44943761" "subst" "0.000109656" "02330" "EIF3J_000044" "g.44943761A>G" "" "" "" "SPG11(NM_025137.4):c.1384T>C (p.C462R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44651563A>G" "" "VUS" "" "0000554432" "0" "30" "15" "44943869" "44943869" "subst" "4.06105E-6" "02329" "EIF3J_000045" "g.44943869C>T" "" "" "" "SPG11(NM_025137.4):c.1276G>A (p.E426K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44651671C>T" "" "likely benign" "" "0000554433" "0" "30" "15" "44944037" "44944037" "subst" "0.0173786" "01804" "SPG11_000093" "g.44944037C>T" "" "" "" "SPG11(NM_001160227.1):c.1108G>A (p.(Glu370Lys)), SPG11(NM_025137.4):c.1108G>A (p.E370K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44651839C>T" "" "likely benign" "" "0000554434" "0" "10" "15" "44944341" "44944341" "subst" "0.00847719" "02330" "EIF3J_000046" "g.44944341G>A" "" "" "" "SPG11(NM_025137.4):c.993C>T (p.S331=, p.(Ser331=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44652143G>A" "" "benign" "" "0000554435" "0" "30" "15" "44944341" "44944341" "subst" "0.00847719" "02329" "EIF3J_000046" "g.44944341G>A" "" "" "" "SPG11(NM_025137.4):c.993C>T (p.S331=, p.(Ser331=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44652143G>A" "" "likely benign" "" "0000554436" "0" "10" "15" "44949329" "44949329" "subst" "0.0080676" "02330" "SPG11_000094" "g.44949329T>C" "" "" "" "SPG11(NM_025137.4):c.833A>G (p.N278S, p.(Asn278Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44657131T>C" "" "benign" "" "0000554437" "0" "30" "15" "44949329" "44949329" "subst" "0.0080676" "02329" "SPG11_000094" "g.44949329T>C" "" "" "" "SPG11(NM_025137.4):c.833A>G (p.N278S, p.(Asn278Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44657131T>C" "" "likely benign" "" "0000554438" "0" "10" "15" "44949354" "44949354" "subst" "0.00604" "02330" "SPG11_000095" "g.44949354C>T" "" "" "" "SPG11(NM_025137.3):c.808G>A (p.(Val270Ile)), SPG11(NM_025137.4):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44657156C>T" "" "benign" "" "0000554439" "0" "50" "15" "44949383" "44949383" "subst" "0" "02330" "EIF3J_000047" "g.44949383G>T" "" "" "" "SPG11(NM_025137.4):c.779C>A (p.T260N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44657185G>T" "" "VUS" "" "0000554440" "0" "90" "15" "44949428" "44949429" "del" "6.49783E-5" "02325" "SPG11_000021" "g.44949428_44949429del" "" "" "" "SPG11(NM_025137.4):c.733_734del (p.(Met245ValfsTer2)), SPG11(NM_025137.4):c.733_734delAT (p.M245Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44657230_44657231del" "" "pathogenic" "" "0000554442" "0" "30" "15" "44952677" "44952677" "subst" "0.000223432" "02329" "SPG11_000097" "g.44952677C>T" "" "" "" "SPG11(NM_025137.3):c.395G>A (p.S132N), SPG11(NM_025137.4):c.395G>A (p.S132N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44660479C>T" "" "likely benign" "" "0000554443" "0" "50" "15" "44952794" "44952794" "subst" "4.87413E-5" "02330" "EIF3J_000049" "g.44952794C>T" "" "" "" "SPG11(NM_025137.4):c.278G>A (p.R93H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44660596C>T" "" "VUS" "" "0000554444" "0" "30" "15" "44955572" "44955572" "subst" "0.000822481" "02329" "EIF3J_000050" "g.44955572T>C" "" "" "" "SPG11(NM_025137.4):c.257+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663374T>C" "" "likely benign" "" "0000554445" "0" "30" "15" "44955823" "44955823" "subst" "5.73521E-5" "02330" "SPG11_000103" "g.44955823G>C" "" "" "" "SPG11(NM_025137.4):c.23C>G (p.A8G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663625G>C" "" "likely benign" "" "0000554446" "0" "50" "15" "44955830" "44955830" "subst" "0.00126895" "02330" "SPG11_000104" "g.44955830C>T" "" "" "" "SPG11(NM_025137.3):c.16G>A (p.G6R), SPG11(NM_025137.4):c.16G>A (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663632C>T" "" "VUS" "" "0000554447" "0" "30" "15" "44955830" "44955830" "subst" "0.00126895" "01943" "SPG11_000104" "g.44955830C>T" "" "" "" "SPG11(NM_025137.3):c.16G>A (p.G6R), SPG11(NM_025137.4):c.16G>A (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663632C>T" "" "likely benign" "" "0000615318" "0" "50" "15" "44855395" "44855396" "dup" "0" "02330" "EIF3J_000051" "g.44855395_44855396dup" "" "" "" "SPG11(NM_025137.4):c.7255_7256dupAA (p.F2420Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563197_44563198dup" "" "VUS" "" "0000615319" "0" "50" "15" "44855492" "44855494" "del" "0" "02325" "EIF3J_000052" "g.44855492_44855494del" "" "" "" "SPG11(NM_025137.4):c.7161_7163delACA (p.Q2387del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563294_44563296del" "" "VUS" "" "0000615320" "0" "50" "15" "44856827" "44856827" "subst" "0.00139753" "01943" "SPG11_000029" "g.44856827G>A" "" "" "" "SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564629G>A" "" "VUS" "" "0000615321" "0" "30" "15" "44856872" "44856872" "subst" "0" "02329" "EIF3J_000053" "g.44856872C>G" "" "" "" "SPG11(NM_025137.4):c.7024G>C (p.D2342H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564674C>G" "" "likely benign" "" "0000615322" "0" "30" "15" "44858515" "44858515" "del" "0" "02329" "EIF3J_000054" "g.44858515del" "" "" "" "SPG11(NM_025137.4):c.6755-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44566317del" "" "likely benign" "" "0000615323" "0" "10" "15" "44859603" "44859603" "subst" "0.00467362" "02330" "SPG11_000040" "g.44859603T>C" "" "" "" "SPG11(NM_025137.4):c.6754+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44567405T>C" "" "benign" "" "0000615324" "0" "30" "15" "44859744" "44859744" "subst" "0.000844821" "02326" "EIF3J_000055" "g.44859744C>T" "" "" "" "SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44567546C>T" "" "likely benign" "" "0000615325" "0" "50" "15" "44862790" "44862790" "subst" "4.47602E-5" "01943" "EIF3J_000056" "g.44862790C>T" "" "" "" "SPG11(NM_025137.3):c.6410G>A (p.R2137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44570592C>T" "" "VUS" "" "0000615326" "0" "50" "15" "44877834" "44877834" "subst" "0.000699095" "02326" "SPG11_000117" "g.44877834C>A" "" "" "" "SPG11(NM_025137.4):c.5121G>T (p.E1707D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585636C>A" "" "VUS" "" "0000615327" "0" "50" "15" "44887531" "44887531" "subst" "1.21841E-5" "02330" "EIF3J_000058" "g.44887531A>G" "" "" "" "SPG11(NM_025137.4):c.4561T>C (p.S1521P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44595333A>G" "" "VUS" "" "0000615328" "0" "30" "15" "44889117" "44889117" "subst" "0.000589206" "02329" "EIF3J_000060" "g.44889117T>C" "" "" "" "SPG11(NM_025137.4):c.4026A>G (p.Q1342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44596919T>C" "" "likely benign" "" "0000615329" "0" "50" "15" "44914544" "44914544" "subst" "0.000119204" "02330" "EIF3J_000037" "g.44914544A>C" "" "" "" "SPG11(NM_025137.3):c.2318T>G (p.V773G), SPG11(NM_025137.4):c.2318T>G (p.V773G, p.(Val773Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44622346A>C" "" "VUS" "" "0000615330" "0" "30" "15" "44918519" "44918519" "subst" "0.000114468" "01943" "EIF3J_000063" "g.44918519C>A" "" "" "" "SPG11(NM_025137.3):c.2244+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44626321C>A" "" "likely benign" "" "0000615331" "0" "50" "15" "44941108" "44941108" "subst" "0.000195022" "02325" "EIF3J_000042" "g.44941108G>A" "" "" "" "SPG11(NM_025137.3):c.1558C>T (p.L520F), SPG11(NM_025137.4):c.1558C>T (p.L520F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44648910G>A" "" "VUS" "" "0000615332" "0" "30" "15" "44943977" "44943977" "subst" "4.47049E-5" "01804" "EIF3J_000064" "g.44943977C>T" "" "" "" "SPG11(NM_001160227.1):c.1168G>A (p.(Asp390Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44651779C>T" "" "likely benign" "" "0000615333" "0" "30" "15" "44949399" "44949399" "subst" "0.000113716" "01943" "EIF3J_000066" "g.44949399T>C" "" "" "" "SPG11(NM_025137.3):c.763A>G (p.K255E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44657201T>C" "" "likely benign" "" "0000615334" "0" "30" "15" "44952632" "44952632" "subst" "1.22056E-5" "02329" "SPG11_000096" "g.44952632A>G" "" "" "" "SPG11(NM_025137.3):c.440T>C (p.I147T), SPG11(NM_025137.4):c.440T>C (p.I147T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44660434A>G" "" "likely benign" "" "0000615336" "0" "50" "15" "44955780" "44955780" "subst" "0" "02326" "EIF3J_000068" "g.44955780C>T" "" "" "" "SPG11(NM_025137.4):c.66G>A (p.M22I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663582C>T" "" "VUS" "" "0000615337" "0" "30" "15" "44955798" "44955798" "subst" "0" "02326" "EIF3J_000069" "g.44955798G>A" "" "" "" "SPG11(NM_025137.4):c.48C>T (p.S16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663600G>A" "" "likely benign" "" "0000623227" "0" "30" "15" "44855509" "44855513" "dup" "0" "02329" "EIF3J_000002" "g.44855509_44855513dup" "" "" "" "SPG11(NM_025137.3):c.7152-14_7152-10dupGTTTC, SPG11(NM_025137.4):c.7152-14_7152-10dupGTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563311_44563315dup" "" "likely benign" "" "0000623228" "0" "30" "15" "44864966" "44864966" "subst" "0.00668399" "02330" "SPG11_000045" "g.44864966C>A" "" "" "" "SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44572768C>A" "" "likely benign" "" "0000623229" "0" "50" "15" "44876230" "44876230" "subst" "1.21844E-5" "02330" "EIF3J_000057" "g.44876230C>T" "" "" "" "SPG11(NM_025137.3):c.5648G>A (p.G1883E), SPG11(NM_025137.4):c.5648G>A (p.G1883E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44584032C>T" "" "VUS" "" "0000623230" "0" "50" "15" "44877834" "44877834" "subst" "0.000699095" "02330" "SPG11_000117" "g.44877834C>A" "" "" "" "SPG11(NM_025137.4):c.5121G>T (p.E1707D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585636C>A" "" "VUS" "" "0000623231" "0" "30" "15" "44881618" "44881618" "subst" "0.00124022" "01943" "SPG11_000056" "g.44881618A>G" "" "" "" "SPG11(NM_025137.3):c.4744-6T>C, SPG11(NM_025137.4):c.4744-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44589420A>G" "" "likely benign" "" "0000623232" "0" "30" "15" "44888305" "44888305" "subst" "0.000253417" "02330" "EIF3J_000059" "g.44888305G>A" "" "" "" "SPG11(NM_025137.4):c.4410C>T (p.L1470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44596107G>A" "" "likely benign" "" "0000623234" "0" "30" "15" "44900816" "44900816" "del" "0" "02330" "EIF3J_000062" "g.44900816del" "" "" "" "SPG11(NM_025137.4):c.3292-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44608618del" "" "likely benign" "" "0000623235" "0" "50" "15" "44944400" "44944400" "subst" "0" "01943" "EIF3J_000065" "g.44944400C>A" "" "" "" "SPG11(NM_025137.3):c.934G>T (p.G312C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44652202C>A" "" "VUS" "" "0000629179" "3" "90" "15" "44918611" "44918611" "dup" "0" "00006" "SPG11_000140" "g.44918611dup" "" "{PMID:Wei 2011:22216297}" "" "2163_2164insT" "" "Germline" "" "" "0" "" "" "g.44626413dup" "" "pathogenic (recessive)" "" "0000647120" "0" "50" "15" "44918698" "44918698" "subst" "9.37108E-5" "01164" "SPG11_000084" "g.44918698A>G" "" "" "" "" "no second variant detected, no copy number change in SPG11 detected" "Germline" "" "rs144012151" "0" "" "" "g.44626500A>G" "" "VUS" "ACMG" "0000649073" "1" "50" "15" "44862776" "44862776" "subst" "6.50973E-5" "03575" "SPG11_000141" "g.44862776C>T" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs141035224}" "Germline" "" "rs141035224" "0" "" "" "g.44570578C>T" "" "VUS" "" "0000649074" "1" "50" "15" "44864940" "44864940" "subst" "0.000657841" "03575" "SPG11_000110" "g.44864940A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs185665930}" "Germline" "" "rs185665930" "0" "" "" "g.44572742A>G" "" "VUS" "" "0000649075" "1" "50" "15" "44877834" "44877834" "subst" "0.000699095" "03575" "SPG11_000117" "g.44877834C>A" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs145643238}" "Germline" "" "rs145643238" "0" "" "" "g.44585636C>A" "" "VUS" "" "0000649076" "1" "30" "15" "44900675" "44900675" "subst" "0.0356771" "03575" "SPG11_000122" "g.44900675C>T" "27/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "27 heterozygous, no homozygous; {DB:CLININrs36014111}" "Germline" "" "rs36014111" "0" "" "" "g.44608477C>T" "" "likely benign" "" "0000649077" "1" "10" "15" "44907562" "44907562" "subst" "0.0102482" "03575" "SPG11_000074" "g.44907562T>C" "35/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "35 heterozygous, no homozygous; {DB:CLININrs111347025}" "Germline" "" "rs111347025" "0" "" "" "g.44615364T>C" "" "benign" "" "0000649078" "1" "10" "15" "44918690" "44918690" "subst" "0.0131374" "03575" "SPG11_000083" "g.44918690C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs78183930}" "Germline" "" "rs78183930" "0" "" "" "g.44626492C>T" "" "benign" "" "0000649079" "1" "50" "15" "44925740" "44925740" "subst" "0.0111016" "03575" "SPG11_000085" "g.44925740A>C" "9/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; {DB:CLININrs79708848}" "Germline" "" "rs79708848" "0" "" "" "g.44633542A>C" "" "VUS" "" "0000649080" "1" "10" "15" "44944037" "44944037" "subst" "0.0173786" "03575" "SPG11_000093" "g.44944037C>T" "31/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "31 heterozygous, no homozygous; {DB:CLININrs77697105}" "Germline" "" "rs77697105" "0" "" "" "g.44651839C>T" "" "benign" "" "0000649081" "1" "30" "15" "44949354" "44949354" "subst" "0.00604" "03575" "SPG11_000095" "g.44949354C>T" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs80338868}" "Germline" "" "rs80338868" "0" "" "" "g.44657156C>T" "" "likely benign" "" "0000653008" "1" "10" "15" "44856873" "44856873" "subst" "0.0204381" "03575" "EIF3J_000004" "g.44856873G>A" "87/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "87 heterozygous; {DB:CLININrs80338869}" "Germline" "" "rs80338869" "0" "" "" "g.44564675G>A" "" "benign" "" "0000653357" "0" "50" "15" "44944061" "44944061" "subst" "4.08317E-6" "01164" "SPG11_000142" "g.44944061A>G" "" "" "" "" "ACMG: PM2,PP4; suspicion of HSP, daughter slightly affected, brother slightly affected, father died at early age (accident)" "Germline" "" "rs746407142" "0" "" "" "g.44651863A>G" "" "VUS" "ACMG" "0000657579" "0" "50" "15" "44876086" "44876086" "subst" "2.43718E-5" "02325" "EIF3J_000070" "g.44876086A>T" "" "" "" "SPG11(NM_025137.4):c.5792T>A (p.I1931N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44583888A>T" "" "VUS" "" "0000657580" "0" "50" "15" "44876230" "44876230" "subst" "1.21844E-5" "01943" "EIF3J_000057" "g.44876230C>T" "" "" "" "SPG11(NM_025137.3):c.5648G>A (p.G1883E), SPG11(NM_025137.4):c.5648G>A (p.G1883E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44584032C>T" "" "VUS" "" "0000657581" "0" "50" "15" "44876328" "44876328" "subst" "4.06197E-6" "01943" "SPG11_000115" "g.44876328G>C" "" "" "" "SPG11(NM_001160227.1):c.5550C>G (p.(Asn1850Lys)), SPG11(NM_025137.3):c.5550C>G (p.N1850K), SPG11(NM_025137.4):c.5550C>G (p.N1850K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44584130G>C" "" "VUS" "" "0000657582" "0" "50" "15" "44898289" "44898289" "subst" "0" "02330" "EIF3J_000071" "g.44898289A>C" "" "" "" "SPG11(NM_025137.4):c.3454T>G (p.S1152A, p.(Ser1152Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44606091A>C" "" "VUS" "" "0000657583" "0" "10" "15" "44912616" "44912616" "subst" "0.00178539" "02329" "EIF3J_000072" "g.44912616A>C" "" "" "" "SPG11(NM_025137.4):c.2621-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620418A>C" "" "benign" "" "0000657584" "0" "30" "15" "44955574" "44955574" "subst" "1.81163E-5" "02329" "EIF3J_000073" "g.44955574T>C" "" "" "" "SPG11(NM_025137.4):c.257+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663376T>C" "" "likely benign" "" "0000659576" "0" "50" "15" "44865940" "44865940" "subst" "0.000443417" "01164" "SPG11_000143" "g.44865940A>C" "" "" "" "" "" "Germline" "" "rs200220848" "0" "" "" "g.44573742A>C" "" "VUS" "ACMG" "0000659696" "0" "90" "15" "44867120" "44867120" "dup" "0" "01164" "SPG11_000144" "g.44867120dup" "" "" "" "" "ACMG grading: PVS1,PM2,PM3; Stevanin et al. 2008. Brain 131: 772" "Germline" "" "rs312262775" "0" "" "" "g.44574922dup" "" "pathogenic" "ACMG" "0000659697" "0" "90" "15" "44914431" "44914431" "subst" "1.21928E-5" "01164" "SPG11_000126" "g.44914431G>A" "" "" "" "" "ACMG grading: PVS1,PM2,PM3; Fraidakis et al. 2016. Neurodegener Dis 16: 373" "Germline" "" "rs756134516" "0" "" "" "g.44622233G>A" "" "pathogenic" "ACMG" "0000659714" "0" "90" "15" "44952629" "44952629" "subst" "0" "01164" "SPG11_000145" "g.44952629C>T" "" "" "" "" "ACMG grading: PVS1,PM2,PP3,PP5; clinically spastic paraplegia; Dup Ex 28-29 on other allele; Southgate et al. 2010. Neurogenetics 11: 379" "Germline" "" "" "0" "" "" "g.44660431C>T" "" "pathogenic" "ACMG" "0000660686" "0" "50" "15" "44890468" "44890468" "subst" "0" "01164" "SPG11_000064" "g.44890468T>C" "" "" "" "" "ACMG grading: PM2" "Germline" "" "" "0" "" "" "g.44598270T>C" "" "VUS" "ACMG" "0000664368" "0" "50" "15" "44858107" "44858107" "subst" "0.000139024" "01164" "EIF3J_000006" "g.44858107T>G" "" "" "" "" "ACMG grading: PM2,PP3\r\nno second variant detected in SPG11, no CNV in SPG11" "Germline" "" "rs200276333" "0" "" "" "g.44565909T>G" "" "VUS" "ACMG" "0000670145" "3" "10" "15" "44856873" "44856873" "subst" "0.0204381" "03575" "EIF3J_000004" "g.44856873G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs80338869}" "Germline" "" "rs80338869" "0" "" "" "g.44564675G>A" "" "benign" "" "0000674734" "0" "90" "15" "44876408" "44876408" "subst" "8.12354E-6" "01807" "SPG11_000002" "g.44876408G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000680177" "0" "30" "15" "44858101" "44858101" "subst" "8.227E-5" "01943" "EIF3J_000005" "g.44858101C>T" "" "" "" "SPG11(NM_025137.3):c.6950G>A (p.G2317D), SPG11(NM_025137.4):c.6950G>A (p.G2317D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680178" "0" "50" "15" "44859657" "44859657" "subst" "3.24929E-5" "02325" "EIF3J_000074" "g.44859657C>T" "" "" "" "SPG11(NM_025137.4):c.6719G>A (p.R2240H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680179" "0" "90" "15" "44865850" "44865850" "subst" "4.06276E-6" "01943" "SPG11_000113" "g.44865850G>A" "" "" "" "SPG11(NM_025137.3):c.6100C>T (p.R2034*), SPG11(NM_025137.4):c.6100C>T (p.(Arg2034*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680180" "0" "10" "15" "44912616" "44912616" "subst" "0.00178539" "02330" "EIF3J_000072" "g.44912616A>C" "" "" "" "SPG11(NM_025137.4):c.2621-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000682857" "0" "70" "15" "44858151" "44858165" "dup" "0" "01164" "SPG11_000146" "g.44858151_44858165dup" "" "Bodda et al. 2015. J Bioanal Biomed 7: 188" "" "" "ACMG grading: PM2,PM3,PM4,PP1\r\nBrother HSP diagnosed, parents consanguin, son of uncle can not walk, clinically increased MER of the legs, no sen-mot. deficits, Babinski neg." "Germline" "" "" "0" "" "" "g.44565953_44565967dup" "" "likely pathogenic" "ACMG" "0000691798" "0" "50" "15" "44859617" "44859617" "subst" "0" "01943" "EIF3J_000075" "g.44859617C>T" "" "" "" "SPG11(NM_025137.3):c.6754+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691799" "0" "50" "15" "44859680" "44859680" "subst" "1.62468E-5" "02330" "EIF3J_000076" "g.44859680G>A" "" "" "" "SPG11(NM_025137.4):c.6696C>T (p.G2232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691800" "0" "30" "15" "44898257" "44898257" "subst" "0.000394075" "01943" "SPG11_000069" "g.44898257A>G" "" "" "" "SPG11(NM_025137.3):c.3486T>C (p.F1162=), SPG11(NM_025137.4):c.3486T>C (p.F1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691801" "0" "50" "15" "44925771" "44925771" "subst" "0" "01943" "EIF3J_000077" "g.44925771A>G" "" "" "" "SPG11(NM_025137.3):c.1667T>C (p.F556S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691802" "0" "30" "15" "44944332" "44944332" "subst" "0" "02330" "EIF3J_000078" "g.44944332A>T" "" "" "" "SPG11(NM_025137.4):c.1002T>A (p.I334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691803" "0" "50" "15" "44949329" "44949329" "subst" "0.000182801" "02330" "EIF3J_000079" "g.44949329T>A" "" "" "" "SPG11(NM_025137.4):c.833A>T (p.N278I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691804" "0" "30" "15" "44951415" "44951415" "subst" "0" "01943" "EIF3J_000080" "g.44951415T>G" "" "" "" "SPG11(NM_025137.3):c.529A>C (p.I177L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701849" "3" "50" "15" "44876109" "44876109" "del" "5.28082E-5" "00006" "SPG11_000147" "g.44876109del" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.44583911del" "" "VUS" "" "0000708547" "3" "90" "15" "44865005" "44865009" "dup" "0" "01807" "SPG11_000148" "g.44865005_44865009dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44572807_44572811dup" "" "pathogenic" "" "0000725104" "0" "10" "15" "44855395" "44855395" "subst" "0.00295726" "02330" "SPG11_000027" "g.44855395T>C" "" "" "" "SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725105" "0" "30" "15" "44856827" "44856827" "subst" "0.00139753" "02329" "SPG11_000029" "g.44856827G>A" "" "" "" "SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725106" "0" "10" "15" "44856873" "44856873" "subst" "0.0204381" "02329" "EIF3J_000004" "g.44856873G>A" "" "" "" "SPG11(NM_025137.4):c.7023C>T (p.Y2341=, p.(Tyr2341=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725107" "0" "50" "15" "44858107" "44858107" "subst" "0.000139024" "02330" "EIF3J_000006" "g.44858107T>G" "" "" "" "SPG11(NM_025137.4):c.6944A>C (p.N2315T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725108" "0" "30" "15" "44858499" "44858499" "subst" "0.000378104" "02330" "SPG11_000037" "g.44858499G>C" "" "" "" "SPG11(NM_025137.3):c.6759C>G (p.D2253E), SPG11(NM_025137.4):c.6759C>G (p.D2253E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725109" "0" "10" "15" "44858522" "44858524" "del" "0" "02329" "SPG11_000038" "g.44858522_44858524del" "" "" "" "SPG11(NM_025137.4):c.6755-17_6755-15delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725110" "0" "50" "15" "44859744" "44859744" "subst" "0.000844821" "02330" "EIF3J_000055" "g.44859744C>T" "" "" "" "SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725111" "0" "30" "15" "44859744" "44859744" "subst" "0.000844821" "01943" "EIF3J_000055" "g.44859744C>T" "" "" "" "SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725112" "0" "30" "15" "44859744" "44859744" "subst" "0.000844821" "02329" "EIF3J_000055" "g.44859744C>T" "" "" "" "SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725113" "0" "30" "15" "44861674" "44861674" "subst" "0" "02329" "EIF3J_000081" "g.44861674G>A" "" "" "" "SPG11(NM_025137.4):c.6507C>T (p.Y2169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725114" "0" "10" "15" "44864894" "44864894" "subst" "0.017816" "02329" "SPG11_000109" "g.44864894C>T" "" "" "" "SPG11(NM_025137.4):c.6330G>A (p.G2110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725115" "0" "50" "15" "44865824" "44865824" "subst" "4.0622E-6" "01943" "EIF3J_000082" "g.44865824C>G" "" "" "" "SPG11(NM_025137.3):c.6126G>C (p.Q2042H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725116" "0" "70" "15" "44878043" "44878046" "dup" "0" "02329" "EIF3J_000018" "g.44878043_44878046dup" "" "" "" "SPG11(NM_025137.4):c.4909_4912dupCCAG (p.D1638Afs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725117" "0" "50" "15" "44881576" "44881576" "subst" "4.06326E-6" "02329" "EIF3J_000083" "g.44881576G>C" "" "" "" "SPG11(NM_025137.4):c.4780C>G (p.P1594A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725118" "0" "50" "15" "44888528" "44888528" "subst" "0" "01943" "EIF3J_000084" "g.44888528C>A" "" "" "" "SPG11(NM_025137.3):c.4187G>T (p.S1396I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725119" "0" "50" "15" "44907712" "44907712" "subst" "0.00101614" "02330" "EIF3J_000027" "g.44907712T>G" "" "" "" "SPG11(NM_025137.3):c.2887A>C (p.R963=), SPG11(NM_025137.4):c.2887A>C (p.R963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725120" "0" "10" "15" "44943797" "44943797" "subst" "0.0185108" "02329" "SPG11_000089" "g.44943797T>C" "" "" "" "SPG11(NM_025137.4):c.1348A>G (p.I450V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725121" "0" "10" "15" "44943798" "44943798" "subst" "0.0182696" "02329" "SPG11_000133" "g.44943798G>A" "" "" "" "SPG11(NM_025137.4):c.1347C>T (p.T449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725122" "0" "90" "15" "44951369" "44951369" "del" "0" "02330" "EIF3J_000048" "g.44951369del" "" "" "" "SPG11(NM_025137.4):c.575delC (p.T192Nfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725123" "0" "30" "15" "44951399" "44951399" "subst" "4.06108E-6" "01943" "EIF3J_000085" "g.44951399T>A" "" "" "" "SPG11(NM_025137.3):c.545A>T (p.D182V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725124" "0" "30" "15" "44951416" "44951416" "subst" "0" "01943" "EIF3J_000086" "g.44951416A>G" "" "" "" "SPG11(NM_025137.3):c.528T>C (p.I176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725125" "0" "90" "15" "44952757" "44952757" "del" "0" "02326" "EIF3J_000087" "g.44952757del" "" "" "" "SPG11(NM_025137.4):c.315delC (p.A106Lfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000763559" "3" "70" "15" "44890569" "44890569" "subst" "3.65964E-5" "03219" "SPG11_000149" "g.44890569C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000763560" "3" "70" "15" "44890569" "44890569" "subst" "3.65964E-5" "03219" "SPG11_000149" "g.44890569C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000784673" "1" "90" "15" "44941211" "44941211" "subst" "0" "01164" "SPG11_000150" "g.44941211T>C" "" "PMID: 18067136" "" "" "NC_000015.10:g.44649013T>C/ ACMG: PVS1, PM2, PM3_SUP" "Germline" "?" "rs312262726" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000784674" "2" "90" "15" "44888407" "44888408" "del" "3.65592E-5" "01164" "SPG11_000005" "g.44888407_44888408del" "" "PMID: 18079167, 24482476, 18079167, 24833714" "" "" "ACMG: PVS1, PS4_MOD, PM3, PM2_SUP, PP1" "Germline" "?" "rs312262759" "0" "" "" "g.44596209_44596210del" "" "pathogenic (recessive)" "ACMG" "0000787053" "3" "90" "15" "44918627" "44918627" "subst" "4.06491E-6" "00006" "SPG11_000154" "g.44918627G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.44626429G>A" "" "pathogenic" "" "0000787054" "3" "90" "15" "44907581" "44907581" "subst" "0" "00006" "SPG11_000153" "g.44907581A>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.44615383A>C" "" "pathogenic" "" "0000787055" "3" "90" "15" "44865850" "44865850" "subst" "4.06276E-6" "00006" "SPG11_000113" "g.44865850G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.44573652G>A" "" "pathogenic" "" "0000787056" "3" "90" "15" "44858195" "44858195" "subst" "1.22053E-5" "00006" "SPG11_000006" "g.44858195G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.44565997G>A" "" "pathogenic" "" "0000787583" "1" "50" "15" "44876480" "44876480" "subst" "0" "00000" "SPG11_000152" "g.44876480G>C" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.44584282G>C" "" "VUS" "" "0000787584" "2" "50" "15" "44876296" "44876296" "subst" "0" "00000" "SPG11_000151" "g.44876296G>A" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.44584098G>A" "" "VUS" "" "0000806699" "0" "90" "15" "44856781" "44856781" "subst" "4.06322E-6" "02325" "EIF3J_000088" "g.44856781A>T" "" "" "" "SPG11(NM_025137.4):c.7115T>A (p.(Leu2372*), p.L2372*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806700" "0" "50" "15" "44859751" "44859751" "subst" "0.000231515" "01943" "EIF3J_000089" "g.44859751G>A" "" "" "" "SPG11(NM_025137.3):c.6625C>T (p.R2209C), SPG11(NM_025137.4):c.6625C>T (p.(Arg2209Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806701" "0" "50" "15" "44876125" "44876125" "subst" "3.65559E-5" "02330" "EIF3J_000090" "g.44876125G>T" "" "" "" "SPG11(NM_025137.4):c.5753C>A (p.A1918D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806702" "0" "50" "15" "44903108" "44903108" "subst" "8.12506E-6" "02325" "EIF3J_000091" "g.44903108C>G" "" "" "" "SPG11(NM_025137.4):c.3221G>C (p.S1074T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806703" "0" "50" "15" "44921005" "44921005" "subst" "0" "02325" "EIF3J_000092" "g.44921005C>G" "" "" "" "SPG11(NM_025137.4):c.1929G>C (p.L643F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806704" "0" "30" "15" "44955650" "44955650" "subst" "0" "01943" "EIF3J_000093" "g.44955650G>A" "" "" "" "SPG11(NM_025137.3):c.196C>T (p.L66F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841193" "3" "90" "15" "44943910" "44943910" "subst" "4.06164E-6" "00435" "SPG11_000020" "g.44943910G>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841201" "3" "90" "15" "44941174" "44941174" "subst" "8.12962E-6" "00435" "SPG11_000155" "g.44941174G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841213" "0" "90" "15" "44859668" "44859668" "del" "0" "00435" "SPG11_000008" "g.44859668del" "" "" "" "6709delG" "" "Germline" "yes" "" "0" "" "" "g.44567470del" "" "pathogenic (recessive)" "" "0000841235" "3" "90" "15" "44876011" "44876011" "subst" "1.21898E-5" "00435" "SPG11_000156" "g.44876011C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841236" "3" "90" "15" "44941174" "44941174" "subst" "8.12962E-6" "00435" "SPG11_000155" "g.44941174G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841362" "3" "90" "15" "44858195" "44858195" "subst" "1.22053E-5" "00435" "SPG11_000006" "g.44858195G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841363" "3" "90" "15" "44858195" "44858195" "subst" "1.22053E-5" "00435" "SPG11_000006" "g.44858195G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841365" "3" "90" "15" "44858154" "44858155" "del" "0" "00435" "SPG11_000161" "g.44858154_44858155del" "" "" "" "6898_6899delCT" "" "Germline" "yes" "" "0" "" "" "g.44565956_44565957del" "" "pathogenic (recessive)" "" "0000841375" "3" "90" "15" "44858154" "44858155" "del" "0" "00435" "SPG11_000161" "g.44858154_44858155del" "" "" "" "6898_6899delCT" "" "Germline" "yes" "" "0" "" "" "g.44565956_44565957del" "" "pathogenic (recessive)" "" "0000841378" "3" "90" "15" "44912464" "44912465" "del" "0" "00435" "SPG11_000160" "g.44912464_44912465del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.44620266_44620267del" "" "pathogenic (recessive)" "" "0000841422" "3" "90" "15" "44912464" "44912465" "del" "0" "00435" "SPG11_000160" "g.44912464_44912465del" "" "" "" "2758_2759delCT" "" "Germline" "yes" "" "0" "" "" "g.44620266_44620267del" "" "pathogenic (recessive)" "" "0000841423" "3" "90" "15" "44858154" "44858155" "del" "0" "00435" "SPG11_000161" "g.44858154_44858155del" "" "" "" "6898_6899delCT" "" "Germline" "yes" "" "0" "" "" "g.44565956_44565957del" "" "pathogenic (recessive)" "" "0000841424" "3" "90" "15" "44943931" "44943931" "subst" "2.03085E-5" "00435" "SPG11_000159" "g.44943931T>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841425" "3" "90" "15" "44858195" "44858195" "subst" "1.22053E-5" "00435" "SPG11_000006" "g.44858195G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841426" "0" "90" "15" "44876011" "44876011" "subst" "1.21898E-5" "00435" "SPG11_000156" "g.44876011C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000845165" "1" "90" "15" "44865000" "44865000" "subst" "0.00296836" "00006" "SPG11_000046" "g.44865000T>C" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "N1962S" "" "Germline" "" "" "0" "" "" "g.44572802T>C" "" "pathogenic" "" "0000845166" "3" "90" "15" "44856764" "44856764" "subst" "0.000207258" "00006" "EIF3J_000003" "g.44856764A>G" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "F2265L" "" "Germline" "" "" "0" "" "" "g.44564566A>G" "" "pathogenic" "" "0000845186" "2" "90" "15" "44855496" "44855496" "subst" "0" "00006" "SPG11_000162" "g.44855496A>T" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "Y2272X" "" "Germline" "" "" "0" "" "" "g.44563298A>T" "" "pathogenic" "" "0000847151" "1" "90" "15" "44865799" "44865799" "subst" "0" "00006" "SPG11_000163" "g.44865799C>A" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "g.44573601C>A" "" "pathogenic" "ACMG" "0000847178" "2" "90" "15" "44943910" "44943910" "subst" "4.06164E-6" "00006" "SPG11_000020" "g.44943910G>C" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "g.44651712G>C" "" "pathogenic" "" "0000854022" "0" "50" "15" "44858107" "44858107" "subst" "0.000139024" "02325" "EIF3J_000006" "g.44858107T>G" "" "" "" "SPG11(NM_025137.4):c.6944A>C (p.N2315T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854023" "0" "50" "15" "44861673" "44861675" "del" "0" "02329" "EIF3J_000094" "g.44861673_44861675del" "" "" "" "SPG11(NM_025137.4):c.6508_6510delAAC (p.N2170del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854024" "0" "50" "15" "44876328" "44876328" "subst" "4.06197E-6" "02330" "SPG11_000115" "g.44876328G>C" "" "" "" "SPG11(NM_001160227.1):c.5550C>G (p.(Asn1850Lys)), SPG11(NM_025137.3):c.5550C>G (p.N1850K), SPG11(NM_025137.4):c.5550C>G (p.N1850K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854025" "0" "30" "15" "44907702" "44907702" "subst" "0.000170693" "01943" "SPG11_000076" "g.44907702C>T" "" "" "" "SPG11(NM_025137.3):c.2897G>A (p.R966H), SPG11(NM_025137.4):c.2897G>A (p.R966H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854026" "0" "30" "15" "44912558" "44912558" "subst" "4.0627E-6" "02330" "EIF3J_000097" "g.44912558T>C" "" "" "" "SPG11(NM_025137.4):c.2664A>G (p.T888=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854027" "0" "50" "15" "44949318" "44949318" "subst" "0" "02330" "EIF3J_000098" "g.44949318C>G" "" "" "" "SPG11(NM_025137.4):c.844G>C (p.A282P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863843" "0" "10" "15" "44858522" "44858524" "del" "0" "02330" "SPG11_000038" "g.44858522_44858524del" "" "" "" "SPG11(NM_025137.4):c.6755-17_6755-15delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863844" "0" "10" "15" "44864894" "44864894" "subst" "0.017816" "02330" "SPG11_000109" "g.44864894C>T" "" "" "" "SPG11(NM_025137.4):c.6330G>A (p.G2110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863845" "0" "30" "15" "44867141" "44867141" "subst" "0" "01943" "EIF3J_000095" "g.44867141T>A" "" "" "" "SPG11(NM_025137.3):c.5965A>T (p.N1989Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863846" "0" "50" "15" "44876056" "44876056" "subst" "4.06256E-6" "02330" "EIF3J_000096" "g.44876056A>G" "" "" "" "SPG11(NM_025137.4):c.5822T>C (p.L1941P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863847" "0" "30" "15" "44898257" "44898257" "subst" "0.000394075" "02326" "SPG11_000069" "g.44898257A>G" "" "" "" "SPG11(NM_025137.3):c.3486T>C (p.F1162=), SPG11(NM_025137.4):c.3486T>C (p.F1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863848" "0" "30" "15" "44903029" "44903029" "subst" "4.06227E-6" "02330" "SPG11_000070" "g.44903029T>C" "" "" "" "SPG11(NM_025137.3):c.3291+9A>G, SPG11(NM_025137.4):c.3291+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863849" "0" "10" "15" "44943797" "44943797" "subst" "0.0185108" "02330" "SPG11_000089" "g.44943797T>C" "" "" "" "SPG11(NM_025137.4):c.1348A>G (p.I450V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863850" "0" "10" "15" "44943798" "44943798" "subst" "0.0182696" "02330" "SPG11_000133" "g.44943798G>A" "" "" "" "SPG11(NM_025137.4):c.1347C>T (p.T449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863851" "0" "30" "15" "44951409" "44951409" "subst" "8.12229E-6" "01943" "EIF3J_000099" "g.44951409G>A" "" "" "" "SPG11(NM_025137.3):c.535C>T (p.P179S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863852" "0" "30" "15" "44952677" "44952677" "subst" "0.000223432" "01943" "SPG11_000097" "g.44952677C>T" "" "" "" "SPG11(NM_025137.3):c.395G>A (p.S132N), SPG11(NM_025137.4):c.395G>A (p.S132N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863853" "0" "30" "15" "44955576" "44955576" "subst" "0.000536253" "02330" "SPG11_000100" "g.44955576C>T" "" "" "" "SPG11(NM_025137.4):c.257+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873168" "0" "50" "15" "44856773" "44856781" "del" "0" "03208" "SPG11_000106" "g.44856773_44856781del" "" "Pennings et al. 2022, in progress" "" "NM_025137.3:c.7115_7123del" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000873169" "11" "90" "15" "44876255" "44876255" "subst" "2.4374E-5" "03208" "SPG11_000114" "g.44876255G>A" "" "Pennings et al. 2022, in progress" "" "NM_025137.4:c.5623C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000873170" "0" "90" "15" "44881545" "44881545" "dup" "0" "03208" "SPG11_000119" "g.44881545dup" "" "Pennings et al. 2022, in progress" "" "NM_025137.4:c.4811dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000873171" "11" "90" "15" "44905698" "44905698" "dup" "2.85314E-5" "03208" "SPG11_000019" "g.44905698dup" "" "Pennings et al. 2022, in progress" "" "NM_025137.3:c.3075dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000874099" "0" "70" "15" "44858464" "44858464" "subst" "0" "03779" "SPG11_000164" "g.44858464A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000880113" "10" "90" "15" "44876733" "44876733" "dup" "0" "00006" "SPG11_000165" "g.44876733dup" "" "{PMID:Schalk 2022:34930816}" "" "5148dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.44584535dup" "" "pathogenic" "" "0000892059" "0" "50" "15" "44856827" "44856827" "subst" "0.00139753" "02330" "SPG11_000029" "g.44856827G>A" "" "" "" "SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892060" "0" "90" "15" "44865859" "44865859" "subst" "0" "02329" "EIF3J_000100" "g.44865859G>A" "" "" "" "SPG11(NM_025137.4):c.6091C>T (p.R2031*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892061" "0" "90" "15" "44867119" "44867122" "del" "0" "02327" "EIF3J_000013" "g.44867119_44867122del" "" "" "" "SPG11(NM_025137.4):c.5989_5992delCTGT (p.L1997Mfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892062" "0" "50" "15" "44876029" "44876029" "subst" "0" "02325" "EIF3J_000101" "g.44876029A>C" "" "" "" "SPG11(NM_025137.4):c.5849T>G (p.L1950R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892063" "0" "50" "15" "44900775" "44900775" "subst" "0.000199164" "02330" "EIF3J_000102" "g.44900775C>G" "" "" "" "SPG11(NM_025137.4):c.3320G>C (p.C1107S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892064" "0" "30" "15" "44907712" "44907712" "subst" "0.00101614" "02326" "EIF3J_000027" "g.44907712T>G" "" "" "" "SPG11(NM_025137.3):c.2887A>C (p.R963=), SPG11(NM_025137.4):c.2887A>C (p.R963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892065" "0" "50" "15" "44941074" "44941074" "subst" "8.1242E-6" "02325" "EIF3J_000103" "g.44941074T>A" "" "" "" "SPG11(NM_025137.4):c.1592A>T (p.(His531Leu), p.H531L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892066" "0" "90" "15" "44943797" "44943797" "dup" "0" "02329" "SPG11_000132" "g.44943797dup" "" "" "" "SPG11(NM_025137.4):c.1348dupA (p.I450Nfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892067" "0" "50" "15" "44952768" "44952768" "subst" "3.65518E-5" "02325" "EIF3J_000104" "g.44952768G>A" "" "" "" "SPG11(NM_025137.4):c.304C>T (p.P102S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908858" "1" "70" "15" "44914558" "44914558" "subst" "1.33247E-5" "00006" "SPG11_000167" "g.44914558G>C" "" "{PMID:Bournazos 2022:34906502}" "" "" "exon skipping, cryptic splice acceptor; transcripts cycloheximide sensitive, cycloheximide sensitive" "Germline" "" "" "0" "" "" "g.44622360G>C" "" "pathogenic (recessive)" "" "0000908927" "2" "90" "15" "44876486" "44876486" "subst" "1.22171E-5" "00006" "SPG11_000166" "g.44876486C>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.44584288C>T" "" "pathogenic (recessive)" "" "0000914290" "0" "10" "15" "44881546" "44881546" "subst" "0.00211286" "02330" "SPG11_000054" "g.44881546A>G" "" "" "" "SPG11(NM_025137.4):c.4810T>C (p.F1604L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914291" "0" "30" "15" "44898257" "44898257" "subst" "0.000394075" "02330" "SPG11_000069" "g.44898257A>G" "" "" "" "SPG11(NM_025137.3):c.3486T>C (p.F1162=), SPG11(NM_025137.4):c.3486T>C (p.F1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914292" "0" "50" "15" "44949318" "44949318" "subst" "0" "02325" "EIF3J_000098" "g.44949318C>G" "" "" "" "SPG11(NM_025137.4):c.844G>C (p.A282P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000919623" "0" "50" "15" "44889054" "44889054" "subst" "0" "01741" "SPG11_000168" "g.44889054T>C" "" "" "" "" "no 2nd SPG11 variant (with a possible significance) detected" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "" "0000925967" "0" "30" "15" "44912616" "44912616" "subst" "0.00178539" "02326" "EIF3J_000072" "g.44912616A>C" "" "" "" "SPG11(NM_025137.4):c.2621-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927788" "0" "90" "15" "44921578" "44921578" "subst" "0" "01741" "SPG11_000169" "g.44921578C>A" "" "" "" "" "heterozygous variant without a second variant, patient with no clearly definable phenotype" "Germline/De novo (untested)" "" "" "0" "" "" "g.44629380C>A" "" "pathogenic" "" "0000945932" "3" "70" "15" "44894055" "44902826" "del" "0" "03312" "SPG11_000170" "g.44894055_44902826del" "" "" "" "NC 000015.9:g.44894055_44902826del" "" "Germline" "yes" "" "0" "" "" "g.44601857_44610628del" "" "pathogenic" "ACMG" "0000950349" "0" "50" "15" "44865888" "44865888" "subst" "9.75174E-5" "02330" "EIF3J_000105" "g.44865888C>T" "" "" "" "SPG11(NM_025137.3):c.6062G>A (p.(Arg2021Gln)), SPG11(NM_025137.4):c.6062G>A (p.R2021Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000958700" "0" "70" "15" "44876497" "44876497" "subst" "4.89177E-5" "00006" "SPG11_000003" "g.44876497A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.44584299A>G" "374112" "likely pathogenic (recessive)" "ACMG" "0000959125" "0" "90" "15" "44876255" "44876255" "subst" "2.4374E-5" "00006" "SPG11_000114" "g.44876255G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.44584057G>A" "1116" "pathogenic (recessive)" "ACMG" "0000967778" "0" "30" "15" "44887544" "44887544" "subst" "1.21841E-5" "02326" "EIF3J_000106" "g.44887544G>A" "" "" "" "SPG11(NM_025137.4):c.4548C>T (p.N1516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967779" "0" "10" "15" "44890903" "44890903" "subst" "0.00260112" "02330" "SPG11_000066" "g.44890903T>C" "" "" "" "SPG11(NM_001160227.1):c.3818A>G (p.(Lys1273Arg)), SPG11(NM_025137.4):c.3818A>G (p.K1273R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967780" "0" "50" "15" "44890912" "44890912" "subst" "0" "02327" "EIF3J_000107" "g.44890912A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967783" "0" "50" "15" "44955818" "44955818" "subst" "0.000114762" "02330" "EIF3J_000108" "g.44955818C>T" "" "" "" "SPG11(NM_025137.4):c.28G>A (p.A10T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981224" "0" "30" "15" "44864966" "44864966" "subst" "0.00668399" "01804" "SPG11_000045" "g.44864966C>A" "" "" "" "SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981225" "0" "50" "15" "44887530" "44887530" "subst" "0" "01804" "EIF3J_000109" "g.44887530G>A" "" "" "" "SPG11(NM_025137.4):c.4562C>T (p.(Ser1521Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981226" "0" "50" "15" "44892756" "44892756" "subst" "0.000134032" "01804" "EIF3J_000110" "g.44892756A>C" "" "" "" "SPG11(NM_025137.4):c.3595T>G (p.(Phe1199Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981227" "0" "30" "15" "44900675" "44900675" "subst" "0.0356771" "01804" "SPG11_000122" "g.44900675C>T" "" "" "" "SPG11(NM_025137.4):c.3420G>A (p.L1140=, p.(Leu1140=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981228" "0" "50" "15" "44903168" "44903168" "subst" "4.06312E-6" "01804" "EIF3J_000111" "g.44903168A>G" "" "" "" "SPG11(NM_025137.4):c.3161T>C (p.(Phe1054Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981229" "0" "50" "15" "44912448" "44912466" "del" "0" "01804" "EIF3J_000112" "g.44912448_44912466del" "" "" "" "SPG11(NM_025137.4):c.2757_2775del (p.(Leu920ThrfsTer10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981230" "0" "50" "15" "44914544" "44914544" "subst" "0.000119204" "01804" "EIF3J_000037" "g.44914544A>C" "" "" "" "SPG11(NM_025137.3):c.2318T>G (p.V773G), SPG11(NM_025137.4):c.2318T>G (p.V773G, p.(Val773Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981231" "0" "10" "15" "44944341" "44944341" "subst" "0.00847719" "01804" "EIF3J_000046" "g.44944341G>A" "" "" "" "SPG11(NM_025137.4):c.993C>T (p.S331=, p.(Ser331=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981232" "0" "30" "15" "44949329" "44949329" "subst" "0.0080676" "01804" "SPG11_000094" "g.44949329T>C" "" "" "" "SPG11(NM_025137.4):c.833A>G (p.N278S, p.(Asn278Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001425" "0" "30" "15" "44859744" "44859744" "subst" "0.000844821" "02327" "EIF3J_000055" "g.44859744C>T" "" "" "" "SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001426" "0" "50" "15" "44865888" "44865888" "subst" "9.75174E-5" "01804" "EIF3J_000105" "g.44865888C>T" "" "" "" "SPG11(NM_025137.3):c.6062G>A (p.(Arg2021Gln)), SPG11(NM_025137.4):c.6062G>A (p.R2021Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001427" "0" "90" "15" "44914417" "44914417" "subst" "0" "02329" "EIF3J_000113" "g.44914417C>G" "" "" "" "SPG11(NM_025137.4):c.2444+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001428" "0" "90" "15" "44914418" "44914418" "subst" "0" "02329" "EIF3J_000114" "g.44914418C>G" "" "" "" "SPG11(NM_025137.4):c.2444G>C (p.R815T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001429" "0" "30" "15" "44949354" "44949354" "subst" "0.00604" "01804" "SPG11_000095" "g.44949354C>T" "" "" "" "SPG11(NM_025137.3):c.808G>A (p.(Val270Ile)), SPG11(NM_025137.4):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001430" "0" "50" "15" "44955802" "44955802" "subst" "0.00011059" "01804" "EIF3J_000115" "g.44955802C>T" "" "" "" "SPG11(NM_025137.3):c.44G>A (p.(Gly15Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011884" "3" "90" "15" "44865744" "44865744" "subst" "8.12499E-6" "00006" "SPG11_000172" "g.44865744C>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.44573546C>T" "SUB7797580" "pathogenic (recessive)" "" "0001011925" "1" "90" "15" "44858429" "44858430" "del" "0" "00006" "SPG11_000171" "g.44858429_44858430del" "" "{PMID:Salinas 2020:33084218}" "" "NM_001160227:c.6493_6494del" "" "Germline" "" "" "0" "" "" "g.44566231_44566232del" "SUB7801325" "pathogenic (recessive)" "" "0001011932" "3" "90" "15" "44952629" "44952629" "subst" "4.0708E-6" "00006" "SPG11_000174" "g.44952629C>G" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.44660431C>G" "RCV000001173.5" "pathogenic (recessive)" "" "0001012001" "2" "90" "15" "44949292" "44949292" "subst" "0" "00006" "SPG11_000173" "g.44949292C>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.44657094C>T" "RCV000034268.3" "pathogenic (recessive)" "" "0001015197" "0" "10" "15" "44881618" "44881618" "subst" "0.00124022" "02330" "SPG11_000056" "g.44881618A>G" "" "" "" "SPG11(NM_025137.3):c.4744-6T>C, SPG11(NM_025137.4):c.4744-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026437" "0" "90" "15" "44858448" "44858449" "del" "0" "02325" "EIF3J_000116" "g.44858448_44858449del" "" "" "" "SPG11(NM_025137.4):c.6811_6812delCT (p.L2271Dfs*68)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026438" "0" "50" "15" "44900670" "44900670" "subst" "0.000101543" "02325" "EIF3J_000117" "g.44900670G>C" "" "" "" "SPG11(NM_025137.4):c.3425C>G (p.S1142C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040361" "0" "50" "15" "44856781" "44856781" "subst" "4.06322E-6" "01804" "EIF3J_000088" "g.44856781A>T" "" "" "" "SPG11(NM_025137.4):c.7115T>A (p.(Leu2372*), p.L2372*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040362" "0" "50" "15" "44858173" "44858173" "subst" "0.000121983" "01804" "SPG11_000033" "g.44858173C>T" "" "" "" "SPG11(NM_025137.3):c.6878G>A (p.R2293Q), SPG11(NM_025137.4):c.6878G>A (p.R2293Q, p.(Arg2293Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040363" "0" "50" "15" "44859751" "44859751" "subst" "0.000231515" "01804" "EIF3J_000089" "g.44859751G>A" "" "" "" "SPG11(NM_025137.3):c.6625C>T (p.R2209C), SPG11(NM_025137.4):c.6625C>T (p.(Arg2209Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040364" "0" "50" "15" "44861661" "44861664" "del" "0" "01804" "EIF3J_000118" "g.44861661_44861664del" "" "" "" "SPG11(NM_025137.4):c.6522_6525del (p.(Ile2175Leufs*13))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040365" "0" "50" "15" "44864974" "44864974" "subst" "2.03036E-5" "01804" "EIF3J_000119" "g.44864974G>A" "" "" "" "SPG11(NM_025137.4):c.6250C>T (p.(Leu2084Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040366" "0" "30" "15" "44865000" "44865000" "subst" "0.00296836" "01804" "SPG11_000046" "g.44865000T>C" "" "" "" "SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040367" "0" "90" "15" "44865850" "44865850" "subst" "4.06276E-6" "01804" "SPG11_000113" "g.44865850G>A" "" "" "" "SPG11(NM_025137.3):c.6100C>T (p.R2034*), SPG11(NM_025137.4):c.6100C>T (p.(Arg2034*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040368" "0" "30" "15" "44876082" "44876082" "subst" "8.53027E-5" "01804" "SPG11_000047" "g.44876082A>G" "" "" "" "SPG11(NM_025137.4):c.5796T>C (p.(His1932=), p.H1932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040369" "0" "50" "15" "44889058" "44889058" "subst" "1.21838E-5" "01804" "EIF3J_000120" "g.44889058A>G" "" "" "" "SPG11(NM_025137.4):c.4085T>C (p.(Leu1362Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040370" "0" "50" "15" "44890913" "44890913" "subst" "0" "01804" "EIF3J_000121" "g.44890913C>T" "" "" "" "SPG11(NM_025137.4):c.3808G>A (p.(Val1270Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040371" "0" "50" "15" "44890991" "44890991" "subst" "0" "01804" "EIF3J_000122" "g.44890991A>C" "" "" "" "SPG11(NM_025137.4):c.3730T>G (p.(Ser1244Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040372" "0" "50" "15" "44892793" "44892793" "subst" "4.062E-5" "02325" "EIF3J_000123" "g.44892793G>C" "" "" "" "SPG11(NM_025137.4):c.3558C>G (p.D1186E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040373" "0" "50" "15" "44898289" "44898289" "subst" "0" "01804" "EIF3J_000071" "g.44898289A>C" "" "" "" "SPG11(NM_025137.4):c.3454T>G (p.S1152A, p.(Ser1152Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040374" "0" "30" "15" "44903029" "44903029" "subst" "4.06227E-6" "01804" "SPG11_000070" "g.44903029T>C" "" "" "" "SPG11(NM_025137.3):c.3291+9A>G, SPG11(NM_025137.4):c.3291+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040375" "0" "50" "15" "44925819" "44925819" "subst" "4.07362E-5" "01804" "EIF3J_000124" "g.44925819C>T" "" "" "" "SPG11(NM_025137.4):c.1619G>A (p.(Arg540His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040376" "0" "50" "15" "44941074" "44941074" "subst" "8.1242E-6" "01804" "EIF3J_000103" "g.44941074T>A" "" "" "" "SPG11(NM_025137.4):c.1592A>T (p.(His531Leu), p.H531L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040377" "0" "50" "15" "44941091" "44941093" "dup" "0" "01804" "EIF3J_000125" "g.44941091_44941093dup" "" "" "" "SPG11(NM_025137.4):c.1573_1575dup (p.(Arg525dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040378" "0" "90" "15" "44949428" "44949429" "del" "6.49783E-5" "01804" "SPG11_000021" "g.44949428_44949429del" "" "" "" "SPG11(NM_025137.4):c.733_734del (p.(Met245ValfsTer2)), SPG11(NM_025137.4):c.733_734delAT (p.M245Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 SPG11 ## Count = 468 "{{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}}" "0000067195" "00024040" "50" "2278" "0" "2278" "0" "c.2278T>C" "r.(?)" "p.(Cys760Arg)" "12" "0000067196" "00024040" "70" "5470" "0" "5470" "0" "c.5470C>T" "r.(?)" "p.(Arg1824*)" "30" "0000067197" "00024040" "50" "5381" "0" "5381" "0" "c.5381T>C" "r.(?)" "p.(Leu1794Pro)" "30" "0000075866" "00024040" "57" "255" "0" "255" "0" "c.255G>A" "r.(?)" "p.(Trp85*)" "1" "0000075867" "00024040" "57" "4307" "0" "4308" "0" "c.4307_4308del" "r.(?)" "p.(Gln1436Argfs*7)" "25" "0000075868" "00024040" "57" "5470" "0" "5470" "0" "c.5470C>T" "r.(?)" "p.(Arg1824*)" "30" "0000075869" "00024040" "57" "6856" "0" "6856" "0" "c.6856C>T" "r.(?)" "p.(Arg2286*)" "38" "0000090050" "00024040" "90" "6349" "0" "6349" "0" "c.6349G>T" "r.(?)" "p.(Glu2117*)" "34" "0000090056" "00024040" "90" "6709" "0" "6709" "0" "c.6709del" "r.(?)" "p.(Ala2237Glnfs*7)" "36" "0000090058" "00024040" "90" "3568" "0" "3568" "0" "c.3568A>T" "r.(?)" "p.(Lys1190*)" "21" "0000090115" "00024040" "90" "5867" "-3237" "6478" "-451" "c.5867-3237_6478-451del" "r.(?)" "p.(Thr1956Serfs*18)" "30i_34i" "0000090116" "00024040" "90" "1735" "877" "2620" "183" "c.1735+877_2620+183del" "r.(?)" "p.(Asn579_Glu874delinsLys)" "8i_11i" "0000090117" "00024040" "90" "2849" "0" "2849" "0" "c.2849del" "r.(?)" "p.(Leu950Trpfs*13)" "16" "0000090118" "00024040" "90" "5867" "-3237" "6478" "-451" "c.5867-3237_6478-451del" "r.(?)" "p.(Thr1956Serfs*18)" "30i_34i" "0000090119" "00024040" "90" "6787" "0" "6787" "0" "c.6787C>T" "r.(?)" "p.(Gln2263*)" "37" "0000090120" "00024040" "90" "4907" "-667" "5121" "160" "c.4907-667_5121+160del" "r.(?)" "p.(Gly1636Aspfs*12)" "28i_29i" "0000090121" "00024040" "90" "1275" "0" "1275" "0" "c.1275dup" "r.(?)" "p.(Glu426Argfs*3)" "6" "0000090122" "00024040" "90" "4743" "632" "5121" "319" "c.4743+632_5121+319dup" "r.?" "p.?" "27i_29i" "0000090123" "00024040" "90" "4743" "632" "5121" "319" "c.4743+632_5121+319dup" "r.?" "p.?" "27i_29i" "0000090124" "00024040" "90" "2987" "0" "2989" "0" "c.2987_2989del" "r.(?)" "p.(Cys996del)" "16" "0000090125" "00024040" "90" "4907" "-524" "5121" "317" "c.4907-524_5121+317del" "r.(?)" "p.(Gly1636Aspfs*12)" "28i_29i" "0000090126" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026Argfs*4)" "17" "0000090127" "00024040" "90" "5867" "-3237" "6478" "-451" "c.5867-3237_6478-451del" "r.(?)" "p.(Thr1956Serfs*18)" "30i_34i" "0000090128" "00024040" "90" "1235" "0" "1235" "0" "c.1235C>G" "r.(?)" "p.(Ser412*)" "6" "0000090129" "00024040" "90" "5867" "-3237" "6478" "-451" "c.5867-3237_6478-451del" "r.(?)" "p.(Thr1956Serfs*18)" "30i_34i" "0000090130" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026Argfs*4)" "17" "0000090131" "00024040" "90" "5867" "-3237" "6478" "-451" "c.5867-3237_6478-451del" "r.(?)" "p.(Thr1956Serfs*18)" "30i_34i" "0000090132" "00024040" "90" "733" "0" "734" "0" "c.733_734del" "r.(?)" "p.(Met245Valfs*2)" "4" "0000090133" "00024040" "90" "4743" "632" "5121" "319" "c.4743+632_5121+319dup" "r.?" "p.?" "27i_29i" "0000090134" "00024040" "90" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651*)" "10" "0000090135" "00024040" "90" "6754" "453" "7151" "285" "c.6754+453_7151+285del" "r.(?)" "p.(Glu2252Aspfs*15)" "36i_39i" "0000090136" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026Argfs*4)" "17" "0000130277" "00024040" "90" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Arg1041*)" "" "0000237847" "00024040" "90" "4396" "0" "4396" "0" "c.4396C>T" "r.(?)" "p.(Gln1466*)" "" "0000244176" "00024040" "90" "5175" "0" "5175" "0" "c.5175del" "r.(?)" "p.(Ala1726Glnfs*112)" "" "0000247310" "00024040" "10" "1698" "0" "1698" "0" "c.1698T>G" "r.(?)" "p.(Asp566Glu)" "" "0000247316" "00024040" "10" "1388" "0" "1388" "0" "c.1388T>C" "r.(?)" "p.(Phe463Ser)" "" "0000248296" "00024040" "10" "1388" "0" "1388" "0" "c.1388T>C" "r.(?)" "p.(Phe463Ser)" "" "0000249397" "00024040" "30" "6468" "0" "6468" "0" "c.6468T>C" "r.(?)" "p.(Tyr2156=)" "" "0000249398" "00024040" "30" "5796" "0" "5796" "0" "c.5796T>C" "r.(?)" "p.(His1932=)" "" "0000249435" "00024040" "30" "3719" "0" "3719" "0" "c.3719T>C" "r.(?)" "p.(Ile1240Thr)" "" "0000249444" "00024040" "30" "2075" "0" "2075" "0" "c.2075T>C" "r.(?)" "p.(Ile692Thr)" "" "0000250016" "00024040" "10" "1698" "0" "1698" "0" "c.1698T>G" "r.(?)" "p.(Asp566Glu)" "" "0000250031" "00024040" "10" "1388" "0" "1388" "0" "c.1388T>C" "r.(?)" "p.(Phe463Ser)" "" "0000250317" "00024040" "30" "3486" "0" "3486" "0" "c.3486T>C" "r.(?)" "p.(Phe1162=)" "" "0000250536" "00024040" "50" "4618" "0" "4618" "0" "c.4618T>G" "r.(?)" "p.(Phe1540Val)" "" "0000250876" "00024040" "10" "1698" "0" "1698" "0" "c.1698T>G" "r.(?)" "p.(Asp566Glu)" "" "0000251074" "00024040" "10" "4810" "0" "4810" "0" "c.4810T>C" "r.(?)" "p.(Phe1604Leu)" "" "0000251113" "00024040" "10" "4070" "0" "4070" "0" "c.4070T>C" "r.(?)" "p.(Leu1357Pro)" "" "0000251582" "00024040" "10" "4434" "11" "4434" "11" "c.4434+11T>C" "r.(=)" "p.(=)" "" "0000252244" "00024040" "30" "4744" "-6" "4744" "-6" "c.4744-6T>C" "r.(=)" "p.(=)" "" "0000253886" "00024040" "10" "258" "-6" "258" "-6" "c.258-6del" "r.(=)" "p.(=)" "" "0000254499" "00024040" "30" "440" "0" "440" "0" "c.440T>C" "r.(?)" "p.(Ile147Thr)" "" "0000296126" "00024040" "10" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000296127" "00024040" "50" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Trp413Ter)" "" "0000296128" "00024040" "10" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Ala695Thr)" "" "0000296129" "00024040" "10" "2445" "-20" "2445" "-20" "c.2445-20del" "r.(=)" "p.(=)" "" "0000296130" "00024040" "10" "3037" "0" "3037" "0" "c.3037A>G" "r.(?)" "p.(Lys1013Glu)" "" "0000296131" "00024040" "50" "6878" "0" "6878" "0" "c.6878G>A" "r.(?)" "p.(Arg2293Gln)" "" "0000298455" "00024040" "10" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Ala695Thr)" "" "0000298456" "00024040" "30" "2280" "0" "2280" "0" "c.2280C>T" "r.(?)" "p.(Cys760=)" "" "0000298457" "00024040" "30" "2897" "0" "2897" "0" "c.2897G>A" "r.(?)" "p.(Arg966His)" "" "0000298458" "00024040" "10" "3037" "0" "3037" "0" "c.3037A>G" "r.(?)" "p.(Lys1013Glu)" "" "0000298459" "00024040" "50" "3095" "0" "3095" "0" "c.3095C>T" "r.(?)" "p.(Pro1032Leu)" "" "0000298460" "00024040" "30" "3265" "0" "3265" "0" "c.3265A>G" "r.(?)" "p.(Met1089Val)" "" "0000298461" "00024040" "50" "3823" "0" "3823" "0" "c.3823G>C" "r.(?)" "p.(Ala1275Pro)" "" "0000298462" "00024040" "30" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Ser132Asn)" "" "0000298464" "00024040" "30" "5121" "32" "5121" "33" "c.5121+32_5121+33del" "r.(=)" "p.(=)" "" "0000298465" "00024040" "30" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0000298466" "00024040" "30" "6258" "0" "6258" "0" "c.6258G>T" "r.(?)" "p.(Leu2086=)" "" "0000298467" "00024040" "30" "6477" "18" "6477" "18" "c.6477+18C>T" "r.(=)" "p.(=)" "" "0000298468" "00024040" "10" "6755" "-17" "6755" "-15" "c.6755-17_6755-15del" "r.(=)" "p.(=)" "" "0000299682" "00024040" "10" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000299683" "00024040" "30" "1248" "0" "1248" "0" "c.1248G>T" "r.(?)" "p.(Met416Ile)" "" "0000299684" "00024040" "30" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Gly6Arg)" "" "0000299685" "00024040" "30" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Ala59Val)" "" "0000299686" "00024040" "10" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Ala695Thr)" "" "0000299688" "00024040" "10" "2445" "-20" "2445" "-20" "c.2445-20del" "r.(=)" "p.(=)" "" "0000299689" "00024040" "10" "2445" "-20" "2445" "-20" "c.2445-20dup" "r.(=)" "p.(=)" "" "0000299690" "00024040" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "" "0000299691" "00024040" "30" "257" "13" "257" "13" "c.257+13G>A" "r.(=)" "p.(=)" "" "0000299693" "00024040" "50" "2984" "0" "2984" "0" "c.2984A>G" "r.(?)" "p.(Tyr995Cys)" "" "0000299694" "00024040" "10" "3037" "0" "3037" "0" "c.3037A>G" "r.(?)" "p.(Lys1013Glu)" "" "0000299695" "00024040" "30" "3093" "0" "3093" "0" "c.3093C>G" "r.(?)" "p.(His1031Gln)" "" "0000299696" "00024040" "30" "328" "0" "328" "0" "c.328A>G" "r.(?)" "p.(Asn110Asp)" "" "0000299697" "00024040" "30" "3818" "0" "3818" "0" "c.3818A>G" "r.(?)" "p.(Lys1273Arg)" "" "0000299698" "00024040" "30" "4052" "0" "4052" "0" "c.4052G>A" "r.(?)" "p.(Arg1351Lys)" "" "0000299699" "00024040" "30" "4635" "17" "4635" "17" "c.4635+17C>T" "r.(=)" "p.(=)" "" "0000299700" "00024040" "30" "4753" "0" "4753" "0" "c.4753G>T" "r.(?)" "p.(Ala1585Ser)" "" "0000299701" "00024040" "50" "5074" "0" "5074" "0" "c.5074G>A" "r.(?)" "p.(Val1692Ile)" "" "0000299702" "00024040" "10" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0000299703" "00024040" "10" "6258" "0" "6258" "0" "c.6258G>T" "r.(?)" "p.(Leu2086=)" "" "0000299704" "00024040" "30" "6319" "0" "6319" "0" "c.6319G>A" "r.(?)" "p.(Val2107Ile)" "" "0000299705" "00024040" "10" "6477" "13" "6477" "13" "c.6477+13del" "r.(=)" "p.(=)" "" "0000299706" "00024040" "30" "6754" "19" "6754" "19" "c.6754+19A>G" "r.(=)" "p.(=)" "" "0000299707" "00024040" "30" "6759" "0" "6759" "0" "c.6759C>G" "r.(?)" "p.(Asp2253Glu)" "" "0000299708" "00024040" "30" "6789" "0" "6789" "0" "c.6789A>G" "r.(?)" "p.(Gln2263=)" "" "0000299709" "00024040" "10" "7197" "0" "7197" "0" "c.7197G>A" "r.(?)" "p.(Lys2399=)" "" "0000299710" "00024040" "30" "7256" "0" "7256" "0" "c.7256A>G" "r.(?)" "p.(Lys2419Arg)" "" "0000302412" "00024040" "10" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000302413" "00024040" "10" "1348" "0" "1348" "0" "c.1348A>G" "r.(?)" "p.(Ile450Val)" "" "0000302414" "00024040" "10" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Ala695Thr)" "" "0000302415" "00024040" "10" "23" "0" "23" "0" "c.23C>G" "r.(?)" "p.(Ala8Gly)" "" "0000302416" "00024040" "30" "257" "13" "257" "13" "c.257+13G>A" "r.(=)" "p.(=)" "" "0000302417" "00024040" "10" "3037" "0" "3037" "0" "c.3037A>G" "r.(?)" "p.(Lys1013Glu)" "" "0000302418" "00024040" "10" "3818" "0" "3818" "0" "c.3818A>G" "r.(?)" "p.(Lys1273Arg)" "" "0000302419" "00024040" "30" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Ser132Asn)" "" "0000302420" "00024040" "10" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Gly15Ser)" "" "0000302421" "00024040" "30" "4923" "0" "4923" "0" "c.4923G>C" "r.(?)" "p.(Lys1641Asn)" "" "0000302422" "00024040" "10" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0000302423" "00024040" "10" "6319" "0" "6319" "0" "c.6319G>A" "r.(?)" "p.(Val2107Ile)" "" "0000302424" "00024040" "30" "6477" "13" "6477" "13" "c.6477+13del" "r.(=)" "p.(=)" "" "0000302425" "00024040" "10" "6755" "-17" "6755" "-15" "c.6755-17_6755-15del" "r.(=)" "p.(=)" "" "0000302426" "00024040" "10" "6953" "0" "6953" "0" "c.6953G>A" "r.(?)" "p.(Arg2318His)" "" "0000302427" "00024040" "90" "6996" "0" "6996" "0" "c.6996C>A" "r.(?)" "p.(Tyr2332Ter)" "" "0000302428" "00024040" "30" "7069" "0" "7069" "0" "c.7069C>T" "r.(?)" "p.(Leu2357Phe)" "" "0000302429" "00024040" "30" "7256" "0" "7256" "0" "c.7256A>G" "r.(?)" "p.(Lys2419Arg)" "" "0000308777" "00024040" "30" "1218" "0" "1218" "0" "c.1218C>G" "r.(?)" "p.(Thr406=)" "" "0000308778" "00024040" "30" "1457" "-4" "1457" "-4" "c.1457-4A>G" "r.spl?" "p.?" "" "0000308779" "00024040" "30" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Ala59Val)" "" "0000308780" "00024040" "30" "3291" "9" "3291" "9" "c.3291+9A>G" "r.(=)" "p.(=)" "" "0000308781" "00024040" "50" "3619" "0" "3619" "0" "c.3619C>T" "r.(?)" "p.(Arg1207Trp)" "" "0000308782" "00024040" "30" "4365" "0" "4365" "0" "c.4365G>C" "r.(?)" "p.(Trp1455Cys)" "" "0000308783" "00024040" "10" "4687" "0" "4687" "0" "c.4687A>G" "r.(?)" "p.(Arg1563Gly)" "" "0000308784" "00024040" "50" "4889" "0" "4889" "0" "c.4889A>G" "r.(?)" "p.(Glu1630Gly)" "" "0000308785" "00024040" "90" "5353" "0" "5353" "0" "c.5353C>T" "r.(?)" "p.(Gln1785Ter)" "" "0000308786" "00024040" "30" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0000308787" "00024040" "30" "6258" "0" "6258" "0" "c.6258G>T" "r.(?)" "p.(Leu2086=)" "" "0000308789" "00024040" "50" "6877" "0" "6877" "0" "c.6877C>T" "r.(?)" "p.(Arg2293Trp)" "" "0000308790" "00024040" "50" "6878" "0" "6878" "0" "c.6878G>A" "r.(?)" "p.(Arg2293Gln)" "" "0000308791" "00024040" "30" "6882" "0" "6882" "0" "c.6882C>T" "r.(?)" "p.(Leu2294=)" "" "0000311483" "00024040" "30" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0000313174" "00024040" "10" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0000313870" "00024040" "10" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0000313871" "00024040" "30" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Asn278Ser)" "" "0000324069" "00024040" "50" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(Ala535=)" "" "0000324070" "00024040" "50" "258" "-6" "258" "-6" "c.258-6del" "r.(=)" "p.(=)" "" "0000338115" "00024040" "90" "7152" "-1" "7152" "-1" "c.7152-1G>C" "r.spl?" "p.?" "" "0000338118" "00024040" "90" "3145" "1" "3145" "1" "c.3145+1G>A" "r.spl?" "p.?" "" "0000338120" "00024040" "90" "2316" "1" "2316" "1" "c.2316+1G>A" "r.spl?" "p.?" "" "0000340100" "00024040" "10" "7197" "0" "7197" "0" "c.7197G>A" "r.(?)" "p.(Lys2399=)" "" "0000340102" "00024040" "10" "3420" "0" "3420" "0" "c.3420G>A" "r.(?)" "p.(Leu1140=)" "" "0000342200" "00024040" "90" "6100" "0" "6100" "0" "c.6100C>T" "r.(?)" "p.(Arg2034Ter)" "" "0000343209" "00024040" "90" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651Ter)" "" "0000343627" "00024040" "50" "5550" "0" "5550" "0" "c.5550C>G" "r.(?)" "p.(Asn1850Lys)" "" "0000344139" "00024040" "10" "1698" "0" "1698" "0" "c.1698T>G" "r.(?)" "p.(Asp566Glu)" "" "0000344621" "00024040" "90" "5623" "0" "5623" "0" "c.5623C>T" "r.(?)" "p.(Gln1875Ter)" "" "0000344861" "00024040" "90" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Gln478Ter)" "" "0000344863" "00024040" "50" "1435" "0" "1435" "0" "c.1435C>A" "r.(?)" "p.(Gln479Lys)" "" "0000344981" "00024040" "90" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Gln811Ter)" "" "0000345147" "00024040" "90" "4483" "0" "4483" "0" "c.4483G>T" "r.(?)" "p.(Glu1495Ter)" "" "0000345179" "00024040" "50" "5121" "0" "5121" "0" "c.5121G>T" "r.(?)" "p.(Glu1707Asp)" "" "0000345386" "00024040" "10" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000346470" "00024040" "30" "1251" "0" "1251" "0" "c.1251C>T" "r.(?)" "p.(His417=)" "" "0000346604" "00024040" "30" "4978" "0" "4978" "0" "c.4978A>G" "r.(?)" "p.(Ile1660Val)" "" "0000346985" "00024040" "30" "6284" "0" "6284" "0" "c.6284T>C" "r.(?)" "p.(Leu2095Ser)" "" "0000347491" "00024040" "10" "7256" "0" "7256" "0" "c.7256A>G" "r.(?)" "p.(Lys2419Arg)" "" "0000347964" "00024040" "10" "4810" "0" "4810" "0" "c.4810T>C" "r.(?)" "p.(Phe1604Leu)" "" "0000348052" "00024040" "10" "1388" "0" "1388" "0" "c.1388T>C" "r.(?)" "p.(Phe463Ser)" "" "0000349785" "00024040" "90" "1085" "0" "1085" "0" "c.1085G>A" "r.(?)" "p.(Trp362Ter)" "" "0000349864" "00024040" "90" "2697" "0" "2697" "0" "c.2697G>A" "r.(?)" "p.(Trp899Ter)" "" "0000408469" "00024040" "90" "3292" "-67" "6205" "1" "c.(3145+1_3292-67)_(6205+1_6206-1)del" "r.?" "p.?" "17i_32i" "0000453952" "00024040" "90" "777" "0" "781" "0" "c.777_781del" "r.(?)" "p.(Ser261Glufs*22)" "" "0000554348" "00024040" "30" "7256" "0" "7256" "0" "c.7256A>G" "r.(?)" "p.(Lys2419Arg)" "" "0000554350" "00024040" "10" "7197" "0" "7197" "0" "c.7197G>A" "r.(?)" "p.(Lys2399=)" "" "0000554351" "00024040" "10" "7197" "0" "7197" "0" "c.7197G>A" "r.(?)" "p.(Lys2399=)" "" "0000554352" "00024040" "30" "7152" "-14" "7152" "-10" "c.7152-14_7152-10dup" "r.(=)" "p.(=)" "" "0000554353" "00024040" "50" "7132" "0" "7132" "0" "c.7132T>C" "r.(?)" "p.(Phe2378Leu)" "" "0000554354" "00024040" "50" "7132" "0" "7132" "0" "c.7132T>C" "r.(?)" "p.(Phe2378Leu)" "" "0000554355" "00024040" "50" "7132" "0" "7132" "0" "c.7132T>C" "r.(?)" "p.(Phe2378Leu)" "" "0000554356" "00024040" "30" "7132" "0" "7132" "0" "c.7132T>C" "r.(?)" "p.(Phe2378Leu)" "" "0000554357" "00024040" "50" "7069" "0" "7069" "0" "c.7069C>T" "r.(?)" "p.(Leu2357Phe)" "" "0000554358" "00024040" "30" "7023" "0" "7023" "0" "c.7023C>T" "r.(?)" "p.(Tyr2341=)" "" "0000554359" "00024040" "30" "7023" "0" "7023" "0" "c.7023C>T" "r.(?)" "p.(Tyr2341=)" "" "0000554360" "00024040" "10" "7023" "0" "7023" "0" "c.7023C>T" "r.(?)" "p.(Tyr2341=)" "" "0000554361" "00024040" "30" "6953" "0" "6953" "0" "c.6953G>A" "r.(?)" "p.(Arg2318His)" "" "0000554362" "00024040" "50" "6950" "0" "6950" "0" "c.6950G>A" "r.(?)" "p.(Gly2317Asp)" "" "0000554364" "00024040" "30" "6930" "0" "6930" "0" "c.6930C>T" "r.(?)" "p.(Asn2310=)" "" "0000554366" "00024040" "50" "6818" "0" "6819" "0" "c.6818_6819insACA" "r.(?)" "p.(Leu2273_Asp2274insGln)" "" "0000554368" "00024040" "30" "6759" "0" "6759" "0" "c.6759C>G" "r.(?)" "p.(Asp2253Glu)" "" "0000554369" "00024040" "50" "6584" "0" "6584" "0" "c.6584C>T" "r.(?)" "p.(Pro2195Leu)" "" "0000554370" "00024040" "30" "6477" "13" "6477" "13" "c.6477+13del" "r.(=)" "p.(=)" "" "0000554371" "00024040" "30" "6477" "13" "6477" "13" "c.6477+13del" "r.(=)" "p.(=)" "" "0000554372" "00024040" "30" "6319" "0" "6319" "0" "c.6319G>A" "r.(?)" "p.(Val2107Ile)" "" "0000554373" "00024040" "50" "6284" "0" "6284" "0" "c.6284T>C" "r.(?)" "p.(Leu2095Ser)" "" "0000554374" "00024040" "30" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0000554375" "00024040" "30" "6205" "10" "6205" "10" "c.6205+10C>G" "r.(=)" "p.(=)" "" "0000554376" "00024040" "30" "6006" "15" "6006" "15" "c.6006+15dup" "r.(=)" "p.(=)" "" "0000554377" "00024040" "90" "5989" "0" "5992" "0" "c.5989_5992del" "r.(?)" "p.(Leu1997MetfsTer60)" "" "0000554378" "00024040" "50" "5550" "0" "5550" "0" "c.5550C>G" "r.(?)" "p.(Asn1850Lys)" "" "0000554379" "00024040" "30" "5428" "0" "5428" "0" "c.5428A>T" "r.(?)" "p.(Thr1810Ser)" "" "0000554380" "00024040" "50" "5288" "0" "5288" "0" "c.5288C>G" "r.(?)" "p.(Pro1763Arg)" "" "0000554381" "00024040" "30" "5121" "12" "5121" "12" "c.5121+12C>G" "r.(=)" "p.(=)" "" "0000554382" "00024040" "50" "5121" "0" "5121" "0" "c.5121G>T" "r.(?)" "p.(Glu1707Asp)" "" "0000554383" "00024040" "50" "5121" "0" "5121" "0" "c.5121G>T" "r.(?)" "p.(Glu1707Asp)" "" "0000554384" "00024040" "50" "4950" "0" "4950" "0" "c.4950G>C" "r.(?)" "p.(Lys1650Asn)" "" "0000554385" "00024040" "30" "4923" "0" "4923" "0" "c.4923G>C" "r.(?)" "p.(Lys1641Asn)" "" "0000554387" "00024040" "30" "4907" "-5" "4907" "-5" "c.4907-5C>T" "r.spl?" "p.?" "" "0000554388" "00024040" "30" "4907" "-5" "4907" "-5" "c.4907-5C>T" "r.spl?" "p.?" "" "0000554389" "00024040" "90" "4811" "0" "4811" "0" "c.4811dup" "r.(?)" "p.(Leu1605ProfsTer10)" "" "0000554390" "00024040" "30" "4744" "-6" "4744" "-6" "c.4744-6T>C" "r.(=)" "p.(=)" "" "0000554391" "00024040" "30" "4578" "0" "4578" "0" "c.4578A>C" "r.(?)" "p.(Thr1526=)" "" "0000554392" "00024040" "30" "4365" "0" "4365" "0" "c.4365G>C" "r.(?)" "p.(Trp1455Cys)" "" "0000554393" "00024040" "30" "4145" "0" "4145" "0" "c.4145A>G" "r.(?)" "p.(Asn1382Ser)" "" "0000554394" "00024040" "30" "3930" "0" "3932" "0" "c.3930_3932del" "r.(?)" "p.(Thr1312del)" "" "0000554395" "00024040" "50" "3823" "0" "3823" "0" "c.3823G>C" "r.(?)" "p.(Ala1275Pro)" "" "0000554396" "00024040" "30" "3818" "0" "3818" "0" "c.3818A>G" "r.(?)" "p.(Lys1273Arg)" "" "0000554397" "00024040" "30" "3549" "0" "3549" "0" "c.3549T>G" "r.(?)" "p.(Ser1183=)" "" "0000554398" "00024040" "10" "3420" "0" "3420" "0" "c.3420G>A" "r.(?)" "p.(Leu1140=)" "" "0000554399" "00024040" "10" "3420" "0" "3420" "0" "c.3420G>A" "r.(?)" "p.(Leu1140=)" "" "0000554401" "00024040" "50" "3312" "0" "3317" "0" "c.3312_3317del" "r.(?)" "p.(Glu1105_Asn1106del)" "" "0000554403" "00024040" "90" "3018" "0" "3018" "0" "c.3018T>A" "r.(?)" "p.(Tyr1006Ter)" "" "0000554404" "00024040" "50" "2897" "0" "2897" "0" "c.2897G>A" "r.(?)" "p.(Arg966His)" "" "0000554406" "00024040" "30" "2887" "0" "2887" "0" "c.2887A>C" "r.(?)" "p.(Arg963=)" "" "0000554407" "00024040" "30" "2887" "0" "2887" "0" "c.2887A>C" "r.(?)" "p.(Arg963=)" "" "0000554408" "00024040" "30" "2887" "0" "2887" "0" "c.2887A>C" "r.(?)" "p.(Arg963=)" "" "0000554409" "00024040" "70" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Gln914Ter)" "" "0000554410" "00024040" "30" "2669" "0" "2669" "0" "c.2669G>T" "r.(?)" "p.(Arg890Leu)" "" "0000554411" "00024040" "30" "2656" "0" "2656" "0" "c.2656T>C" "r.(?)" "p.(Tyr886His)" "" "0000554412" "00024040" "10" "2656" "0" "2656" "0" "c.2656T>C" "r.(?)" "p.(Tyr886His)" "" "0000554413" "00024040" "30" "2656" "0" "2656" "0" "c.2656T>C" "r.(?)" "p.(Tyr886His)" "" "0000554414" "00024040" "30" "2621" "-8" "2621" "-8" "c.2621-8T>C" "r.(=)" "p.(=)" "" "0000554415" "00024040" "30" "2621" "-8" "2621" "-8" "c.2621-8dup" "r.(=)" "p.(=)" "" "0000554416" "00024040" "30" "2621" "-18" "2621" "-18" "c.2621-18G>T" "r.(=)" "p.(=)" "" "0000554417" "00024040" "30" "2445" "-21" "2445" "-20" "c.2445-21_2445-20dup" "r.(=)" "p.(=)" "" "0000554418" "00024040" "10" "2445" "-20" "2445" "-20" "c.2445-20dup" "r.(=)" "p.(=)" "" "0000554419" "00024040" "30" "2418" "0" "2418" "0" "c.2418A>G" "r.(?)" "p.(Glu806=)" "" "0000554420" "00024040" "30" "2377" "0" "2377" "0" "c.2377G>A" "r.(?)" "p.(Val793Met)" "" "0000554421" "00024040" "50" "2318" "0" "2318" "0" "c.2318T>G" "r.(?)" "p.(Val773Gly)" "" "0000554422" "00024040" "50" "2318" "0" "2318" "0" "c.2318T>G" "r.(?)" "p.(Val773Gly)" "" "0000554423" "00024040" "30" "2184" "0" "2184" "0" "c.2184G>A" "r.(?)" "p.(Leu728=)" "" "0000554424" "00024040" "30" "2169" "0" "2169" "0" "c.2169C>T" "r.(?)" "p.(Gly723=)" "" "0000554425" "00024040" "10" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Ala695Thr)" "" "0000554426" "00024040" "30" "2027" "0" "2027" "0" "c.2027A>G" "r.(?)" "p.(Lys676Arg)" "" "0000554427" "00024040" "90" "1752" "0" "1752" "0" "c.1752dup" "r.(?)" "p.(Pro585ThrfsTer11)" "" "0000554428" "00024040" "30" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(Ala535=)" "" "0000554429" "00024040" "50" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Leu520Phe)" "" "0000554430" "00024040" "50" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Ser510Asn)" "" "0000554431" "00024040" "50" "1384" "0" "1384" "0" "c.1384T>C" "r.(?)" "p.(Cys462Arg)" "" "0000554432" "00024040" "30" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Glu426Lys)" "" "0000554433" "00024040" "30" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000554434" "00024040" "10" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Ser331=)" "" "0000554435" "00024040" "30" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Ser331=)" "" "0000554436" "00024040" "10" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Asn278Ser)" "" "0000554437" "00024040" "30" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Asn278Ser)" "" "0000554438" "00024040" "10" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0000554439" "00024040" "50" "779" "0" "779" "0" "c.779C>A" "r.(?)" "p.(Thr260Asn)" "" "0000554440" "00024040" "90" "733" "0" "734" "0" "c.733_734del" "r.(?)" "p.(Met245ValfsTer2)" "" "0000554442" "00024040" "30" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Ser132Asn)" "" "0000554443" "00024040" "50" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93His)" "" "0000554444" "00024040" "30" "257" "17" "257" "17" "c.257+17A>G" "r.(=)" "p.(=)" "" "0000554445" "00024040" "30" "23" "0" "23" "0" "c.23C>G" "r.(?)" "p.(Ala8Gly)" "" "0000554446" "00024040" "50" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Gly6Arg)" "" "0000554447" "00024040" "30" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Gly6Arg)" "" "0000615318" "00024040" "50" "7255" "0" "7256" "0" "c.7255_7256dup" "r.(?)" "p.(Phe2420SerfsTer6)" "" "0000615319" "00024040" "50" "7161" "0" "7163" "0" "c.7161_7163del" "r.(?)" "p.(Gln2387del)" "" "0000615320" "00024040" "50" "7069" "0" "7069" "0" "c.7069C>T" "r.(?)" "p.(Leu2357Phe)" "" "0000615321" "00024040" "30" "7024" "0" "7024" "0" "c.7024G>C" "r.(?)" "p.(Asp2342His)" "" "0000615322" "00024040" "30" "6755" "-10" "6755" "-10" "c.6755-10del" "r.(=)" "p.(=)" "" "0000615323" "00024040" "10" "6754" "19" "6754" "19" "c.6754+19A>G" "r.(=)" "p.(=)" "" "0000615324" "00024040" "30" "6632" "0" "6632" "0" "c.6632G>A" "r.(?)" "p.(Arg2211His)" "" "0000615325" "00024040" "50" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Arg2137Gln)" "" "0000615326" "00024040" "50" "5121" "0" "5121" "0" "c.5121G>T" "r.(?)" "p.(Glu1707Asp)" "" "0000615327" "00024040" "50" "4561" "0" "4561" "0" "c.4561T>C" "r.(?)" "p.(Ser1521Pro)" "" "0000615328" "00024040" "30" "4026" "0" "4026" "0" "c.4026A>G" "r.(?)" "p.(Gln1342=)" "" "0000615329" "00024040" "50" "2318" "0" "2318" "0" "c.2318T>G" "r.(?)" "p.(Val773Gly)" "" "0000615330" "00024040" "30" "2244" "10" "2244" "10" "c.2244+10G>T" "r.(=)" "p.(=)" "" "0000615331" "00024040" "50" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Leu520Phe)" "" "0000615332" "00024040" "30" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Asp390Asn)" "" "0000615333" "00024040" "30" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Lys255Glu)" "" "0000615334" "00024040" "30" "440" "0" "440" "0" "c.440T>C" "r.(?)" "p.(Ile147Thr)" "" "0000615336" "00024040" "50" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.(Met22Ile)" "" "0000615337" "00024040" "30" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Ser16=)" "" "0000623227" "00024040" "30" "7152" "-14" "7152" "-10" "c.7152-14_7152-10dup" "r.(=)" "p.(=)" "" "0000623228" "00024040" "30" "6258" "0" "6258" "0" "c.6258G>T" "r.(?)" "p.(Leu2086=)" "" "0000623229" "00024040" "50" "5648" "0" "5648" "0" "c.5648G>A" "r.(?)" "p.(Gly1883Glu)" "" "0000623230" "00024040" "50" "5121" "0" "5121" "0" "c.5121G>T" "r.(?)" "p.(Glu1707Asp)" "" "0000623231" "00024040" "30" "4744" "-6" "4744" "-6" "c.4744-6T>C" "r.(=)" "p.(=)" "" "0000623232" "00024040" "30" "4410" "0" "4410" "0" "c.4410C>T" "r.(?)" "p.(Leu1470=)" "" "0000623234" "00024040" "30" "3292" "-7" "3292" "-7" "c.3292-7del" "r.(=)" "p.(=)" "" "0000623235" "00024040" "50" "934" "0" "934" "0" "c.934G>T" "r.(?)" "p.(Gly312Cys)" "" "0000629179" "00024040" "90" "2163" "0" "2163" "0" "c.2163dup" "r.(?)" "p.(Ile722Tyrfs*10)" "11" "0000647120" "00024040" "50" "2075" "0" "2075" "0" "c.2075T>C" "r.(?)" "p.(Ile692Thr)" "" "0000649073" "00024040" "50" "6424" "0" "6424" "0" "c.6424G>A" "r.(?)" "p.(Ala2142Thr)" "" "0000649074" "00024040" "50" "6284" "0" "6284" "0" "c.6284T>C" "r.(?)" "p.(Leu2095Ser)" "" "0000649075" "00024040" "50" "5121" "0" "5121" "0" "c.5121G>T" "r.(?)" "p.(Glu1707Asp)" "" "0000649076" "00024040" "30" "3420" "0" "3420" "0" "c.3420G>A" "r.(=)" "p.(=)" "" "0000649077" "00024040" "10" "3037" "0" "3037" "0" "c.3037A>G" "r.(?)" "p.(Lys1013Glu)" "" "0000649078" "00024040" "10" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Ala695Thr)" "" "0000649079" "00024040" "50" "1698" "0" "1698" "0" "c.1698T>G" "r.(?)" "p.(Asp566Glu)" "" "0000649080" "00024040" "10" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000649081" "00024040" "30" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0000653008" "00024040" "10" "7023" "0" "7023" "0" "c.7023C>T" "r.(=)" "p.(=)" "" "0000653357" "00024040" "50" "1084" "0" "1084" "0" "c.1084T>C" "r.(?)" "p.(Trp362Arg)" "" "0000657579" "00024040" "50" "5792" "0" "5792" "0" "c.5792T>A" "r.(?)" "p.(Ile1931Asn)" "" "0000657580" "00024040" "50" "5648" "0" "5648" "0" "c.5648G>A" "r.(?)" "p.(Gly1883Glu)" "" "0000657581" "00024040" "50" "5550" "0" "5550" "0" "c.5550C>G" "r.(?)" "p.(Asn1850Lys)" "" "0000657582" "00024040" "50" "3454" "0" "3454" "0" "c.3454T>G" "r.(?)" "p.(Ser1152Ala)" "" "0000657583" "00024040" "10" "2621" "-15" "2621" "-15" "c.2621-15T>G" "r.(=)" "p.(=)" "" "0000657584" "00024040" "30" "257" "15" "257" "15" "c.257+15A>G" "r.(=)" "p.(=)" "" "0000659576" "00024040" "50" "6010" "0" "6010" "0" "c.6010T>G" "r.(?)" "p.(Leu2004Val)" "" "0000659696" "00024040" "90" "5986" "0" "5986" "0" "c.5986dup" "r.(?)" "p.(Cys1996Leufs*4)" "" "0000659697" "00024040" "90" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Gln811*)" "" "0000659714" "00024040" "90" "442" "1" "442" "1" "c.442+1G>A" "r.(?)" "p.(?)" "" "0000660686" "00024040" "50" "3996" "0" "3996" "0" "c.3996A>G" "r.(?)" "p.(Ile1332Met)" "" "0000664368" "00024040" "50" "6944" "0" "6944" "0" "c.6944A>C" "r.(?)" "p.(Asn2315Thr)" "" "0000670145" "00024040" "10" "7023" "0" "7023" "0" "c.7023C>T" "r.(=)" "p.(=)" "" "0000674734" "00024040" "90" "5470" "0" "5470" "0" "c.5470C>T" "r.(?)" "p.(Arg1824Ter)" "" "0000680177" "00024040" "30" "6950" "0" "6950" "0" "c.6950G>A" "r.(?)" "p.(Gly2317Asp)" "" "0000680178" "00024040" "50" "6719" "0" "6719" "0" "c.6719G>A" "r.(?)" "p.(Arg2240His)" "" "0000680179" "00024040" "90" "6100" "0" "6100" "0" "c.6100C>T" "r.(?)" "p.(Arg2034Ter)" "" "0000680180" "00024040" "10" "2621" "-15" "2621" "-15" "c.2621-15T>G" "r.(=)" "p.(=)" "" "0000682857" "00024040" "70" "6886" "0" "6900" "0" "c.6886_6900dup" "r.(?)" "p.(Lys2296_Leu2300dup)" "" "0000691798" "00024040" "50" "6754" "5" "6754" "5" "c.6754+5G>A" "r.spl?" "p.?" "" "0000691799" "00024040" "50" "6696" "0" "6696" "0" "c.6696C>T" "r.(?)" "p.(Gly2232=)" "" "0000691800" "00024040" "30" "3486" "0" "3486" "0" "c.3486T>C" "r.(?)" "p.(Phe1162=)" "" "0000691801" "00024040" "50" "1667" "0" "1667" "0" "c.1667T>C" "r.(?)" "p.(Phe556Ser)" "" "0000691802" "00024040" "30" "1002" "0" "1002" "0" "c.1002T>A" "r.(?)" "p.(Ile334=)" "" "0000691803" "00024040" "50" "833" "0" "833" "0" "c.833A>T" "r.(?)" "p.(Asn278Ile)" "" "0000691804" "00024040" "30" "529" "0" "529" "0" "c.529A>C" "r.(?)" "p.(Ile177Leu)" "" "0000701849" "00024040" "50" "5769" "0" "5769" "0" "c.5769del" "r.(?)" "p.(Ser1923Argfs*28)" "" "0000708547" "00024040" "90" "6215" "0" "6219" "0" "c.6215_6219dup" "r.(?)" "p.(Phe2074ArgfsTer15)" "" "0000725104" "00024040" "10" "7256" "0" "7256" "0" "c.7256A>G" "r.(?)" "p.(Lys2419Arg)" "" "0000725105" "00024040" "30" "7069" "0" "7069" "0" "c.7069C>T" "r.(?)" "p.(Leu2357Phe)" "" "0000725106" "00024040" "10" "7023" "0" "7023" "0" "c.7023C>T" "r.(?)" "p.(Tyr2341=)" "" "0000725107" "00024040" "50" "6944" "0" "6944" "0" "c.6944A>C" "r.(?)" "p.(Asn2315Thr)" "" "0000725108" "00024040" "30" "6759" "0" "6759" "0" "c.6759C>G" "r.(?)" "p.(Asp2253Glu)" "" "0000725109" "00024040" "10" "6755" "-17" "6755" "-15" "c.6755-17_6755-15del" "r.(=)" "p.(=)" "" "0000725110" "00024040" "50" "6632" "0" "6632" "0" "c.6632G>A" "r.(?)" "p.(Arg2211His)" "" "0000725111" "00024040" "30" "6632" "0" "6632" "0" "c.6632G>A" "r.(?)" "p.(Arg2211His)" "" "0000725112" "00024040" "30" "6632" "0" "6632" "0" "c.6632G>A" "r.(?)" "p.(Arg2211His)" "" "0000725113" "00024040" "30" "6507" "0" "6507" "0" "c.6507C>T" "r.(?)" "p.(Tyr2169=)" "" "0000725114" "00024040" "10" "6330" "0" "6330" "0" "c.6330G>A" "r.(?)" "p.(Gly2110=)" "" "0000725115" "00024040" "50" "6126" "0" "6126" "0" "c.6126G>C" "r.(?)" "p.(Gln2042His)" "" "0000725116" "00024040" "70" "4909" "0" "4912" "0" "c.4909_4912dup" "r.(?)" "p.(Asp1638AlafsTer21)" "" "0000725117" "00024040" "50" "4780" "0" "4780" "0" "c.4780C>G" "r.(?)" "p.(Pro1594Ala)" "" "0000725118" "00024040" "50" "4187" "0" "4187" "0" "c.4187G>T" "r.(?)" "p.(Ser1396Ile)" "" "0000725119" "00024040" "50" "2887" "0" "2887" "0" "c.2887A>C" "r.(?)" "p.(Arg963=)" "" "0000725120" "00024040" "10" "1348" "0" "1348" "0" "c.1348A>G" "r.(?)" "p.(Ile450Val)" "" "0000725121" "00024040" "10" "1347" "0" "1347" "0" "c.1347C>T" "r.(?)" "p.(Thr449=)" "" "0000725122" "00024040" "90" "575" "0" "575" "0" "c.575del" "r.(?)" "p.(Thr192AsnfsTer11)" "" "0000725123" "00024040" "30" "545" "0" "545" "0" "c.545A>T" "r.(?)" "p.(Asp182Val)" "" "0000725124" "00024040" "30" "528" "0" "528" "0" "c.528T>C" "r.(?)" "p.(Ile176=)" "" "0000725125" "00024040" "90" "315" "0" "315" "0" "c.315del" "r.(?)" "p.(Ala106Leufs*15)" "" "0000763559" "00024040" "70" "3895" "0" "3895" "0" "c.3895G>A" "r.(?)" "p.(Glu1299Lys)" "" "0000763560" "00024040" "70" "3895" "0" "3895" "0" "c.3895G>A" "r.(?)" "p.(Glu1299Lys)" "" "0000784673" "00024040" "90" "1457" "-2" "1457" "-2" "c.1457-2A>G" "r.spl?" "p.?" "" "0000784674" "00024040" "90" "4307" "0" "4308" "0" "c.4307_4308del" "r.(?)" "p.(Gln1436Argfs*7)" "" "0000787053" "00024040" "90" "2146" "0" "2146" "0" "c.2146C>T" "r.(?)" "p.(Gln716Ter)" "11" "0000787054" "00024040" "90" "3018" "0" "3018" "0" "c.3018T>G" "r.(?)" "p.(Tyr1006Ter)" "16" "0000787055" "00024040" "90" "6100" "0" "6100" "0" "c.6100C>T" "r.(?)" "p.(Arg2034Ter)" "32" "0000787056" "00024040" "90" "6856" "0" "6856" "0" "c.6856C>T" "r.(?)" "p.(Arg2286Ter)" "38" "0000787583" "00024040" "50" "5398" "0" "5398" "0" "c.5398C>G" "r.(?)" "p.(Gln1800Glu)" "30" "0000787584" "00024040" "50" "5582" "0" "5582" "0" "c.5582C>T" "r.(?)" "p.(Pro1861Leu)" "30" "0000806699" "00024040" "90" "7115" "0" "7115" "0" "c.7115T>A" "r.(?)" "p.(Leu2372*)" "" "0000806700" "00024040" "50" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Arg2209Cys)" "" "0000806701" "00024040" "50" "5753" "0" "5753" "0" "c.5753C>A" "r.(?)" "p.(Ala1918Asp)" "" "0000806702" "00024040" "50" "3221" "0" "3221" "0" "c.3221G>C" "r.(?)" "p.(Ser1074Thr)" "" "0000806703" "00024040" "50" "1929" "0" "1929" "0" "c.1929G>C" "r.(?)" "p.(Leu643Phe)" "" "0000806704" "00024040" "30" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Leu66Phe)" "" "0000841193" "00024040" "90" "1235" "0" "1235" "0" "c.1235C>G" "r.(?)" "p.(Ser412*)" "6" "0000841201" "00024040" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Gln498*)" "7" "0000841213" "00024040" "90" "6709" "0" "6709" "0" "c.6709del" "r.(?)" "p.(Ala2237Glnfs*7)" "36" "0000841235" "00024040" "90" "5866" "1" "5866" "1" "c.5866+1G>A" "r.spl" "p.?" "30" "0000841236" "00024040" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Gln498*)" "7" "0000841362" "00024040" "90" "6856" "0" "6856" "0" "c.6856C>T" "r.(?)" "p.(Arg2286*)" "38" "0000841363" "00024040" "90" "6856" "0" "6856" "0" "c.6856C>T" "r.(?)" "p.(Arg2286*)" "38" "0000841365" "00024040" "90" "6898" "0" "6899" "0" "c.6898_6899del" "r.(?)" "p.(Leu2300Alafs*39)" "38" "0000841375" "00024040" "90" "6898" "0" "6899" "0" "c.6898_6899del" "r.(?)" "p.(Leu2300Alafs*39)" "38" "0000841378" "00024040" "90" "2758" "0" "2759" "0" "c.2758_2759del" "r.(?)" "p.(Leu920Aspfs*3)" "15" "0000841422" "00024040" "90" "2758" "0" "2759" "0" "c.2758_2759del" "r.(?)" "p.(Leu920Aspfs*3)" "15" "0000841423" "00024040" "90" "6898" "0" "6899" "0" "c.6898_6899del" "r.(?)" "p.(Leu2300Alafs*39)" "38" "0000841424" "00024040" "90" "1214" "0" "1214" "0" "c.1214A>C" "r.(?)" "p.(Lys405Thr)" "6" "0000841425" "00024040" "90" "6856" "0" "6856" "0" "c.6856C>T" "r.(?)" "p.(Arg2286*)" "38" "0000841426" "00024040" "90" "5866" "1" "5866" "1" "c.5866+1G>A" "r.spl?" "p.?" "" "0000845165" "00024040" "90" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0000845166" "00024040" "90" "7132" "0" "7132" "0" "c.7132T>C" "r.(?)" "p.(Phe2378Leu)" "" "0000845186" "00024040" "90" "7155" "0" "7155" "0" "c.7155T>A" "r.(?)" "p.(Tyr2385Ter)" "" "0000847151" "00024040" "90" "6151" "0" "6151" "0" "c.6151G>T" "r.(?)" "p.(Glu2051Ter)" "" "0000847178" "00024040" "90" "1235" "0" "1235" "0" "c.1235C>G" "r.(?)" "p.(Ser412Ter)" "" "0000854022" "00024040" "50" "6944" "0" "6944" "0" "c.6944A>C" "r.(?)" "p.(Asn2315Thr)" "" "0000854023" "00024040" "50" "6508" "0" "6510" "0" "c.6508_6510del" "r.(?)" "p.(Asn2170del)" "" "0000854024" "00024040" "50" "5550" "0" "5550" "0" "c.5550C>G" "r.(?)" "p.(Asn1850Lys)" "" "0000854025" "00024040" "30" "2897" "0" "2897" "0" "c.2897G>A" "r.(?)" "p.(Arg966His)" "" "0000854026" "00024040" "30" "2664" "0" "2664" "0" "c.2664A>G" "r.(?)" "p.(Thr888=)" "" "0000854027" "00024040" "50" "844" "0" "844" "0" "c.844G>C" "r.(?)" "p.(Ala282Pro)" "" "0000863843" "00024040" "10" "6755" "-17" "6755" "-15" "c.6755-17_6755-15del" "r.(=)" "p.(=)" "" "0000863844" "00024040" "10" "6330" "0" "6330" "0" "c.6330G>A" "r.(?)" "p.(Gly2110=)" "" "0000863845" "00024040" "30" "5965" "0" "5965" "0" "c.5965A>T" "r.(?)" "p.(Asn1989Tyr)" "" "0000863846" "00024040" "50" "5822" "0" "5822" "0" "c.5822T>C" "r.(?)" "p.(Leu1941Pro)" "" "0000863847" "00024040" "30" "3486" "0" "3486" "0" "c.3486T>C" "r.(?)" "p.(Phe1162=)" "" "0000863848" "00024040" "30" "3291" "9" "3291" "9" "c.3291+9A>G" "r.(=)" "p.(=)" "" "0000863849" "00024040" "10" "1348" "0" "1348" "0" "c.1348A>G" "r.(?)" "p.(Ile450Val)" "" "0000863850" "00024040" "10" "1347" "0" "1347" "0" "c.1347C>T" "r.(?)" "p.(Thr449=)" "" "0000863851" "00024040" "30" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Pro179Ser)" "" "0000863852" "00024040" "30" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Ser132Asn)" "" "0000863853" "00024040" "30" "257" "13" "257" "13" "c.257+13G>A" "r.(=)" "p.(=)" "" "0000873168" "00024040" "50" "7115" "0" "7123" "0" "c.7115_7123del" "r.(?)" "p.(Leu2372_Lys2374del)" "" "0000873169" "00024040" "90" "5623" "0" "5623" "0" "c.5623C>T" "r.(?)" "p.(Gln1875*)" "" "0000873170" "00024040" "90" "4811" "0" "4811" "0" "c.4811dup" "r.(?)" "p.(Leu1605Profs*10)" "" "0000873171" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026Argfs*4)" "" "0000874099" "00024040" "70" "6794" "0" "6794" "0" "c.6794T>C" "r.(?)" "p.(Leu2265Pro)" "" "0000880113" "00024040" "90" "5148" "0" "5148" "0" "c.5148dup" "r.(?)" "p.(His1717Thrfs*3)" "" "0000892059" "00024040" "50" "7069" "0" "7069" "0" "c.7069C>T" "r.(?)" "p.(Leu2357Phe)" "" "0000892060" "00024040" "90" "6091" "0" "6091" "0" "c.6091C>T" "r.(?)" "p.(Arg2031*)" "" "0000892061" "00024040" "90" "5989" "0" "5992" "0" "c.5989_5992del" "r.(?)" "p.(Leu1997MetfsTer60)" "" "0000892062" "00024040" "50" "5849" "0" "5849" "0" "c.5849T>G" "r.(?)" "p.(Leu1950Arg)" "" "0000892063" "00024040" "50" "3320" "0" "3320" "0" "c.3320G>C" "r.(?)" "p.(Cys1107Ser)" "" "0000892064" "00024040" "30" "2887" "0" "2887" "0" "c.2887A>C" "r.(?)" "p.(Arg963=)" "" "0000892065" "00024040" "50" "1592" "0" "1592" "0" "c.1592A>T" "r.(?)" "p.(His531Leu)" "" "0000892066" "00024040" "90" "1348" "0" "1348" "0" "c.1348dup" "r.(?)" "p.(Ile450AsnfsTer26)" "" "0000892067" "00024040" "50" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Pro102Ser)" "" "0000908858" "00024040" "70" "2317" "-13" "2317" "-13" "c.2317-13C>G" "r.[2317_2444del,2317_2356del]" "p.[Glu774Leufs*21,Val773Argfs*5]" "" "0000908927" "00024040" "90" "5392" "0" "5392" "0" "c.5392G>A" "r.5392g>a" "p.Glu1798Lys" "" "0000914290" "00024040" "10" "4810" "0" "4810" "0" "c.4810T>C" "r.(?)" "p.(Phe1604Leu)" "" "0000914291" "00024040" "30" "3486" "0" "3486" "0" "c.3486T>C" "r.(?)" "p.(Phe1162=)" "" "0000914292" "00024040" "50" "844" "0" "844" "0" "c.844G>C" "r.(?)" "p.(Ala282Pro)" "" "0000919623" "00024040" "50" "4089" "0" "4089" "0" "c.4089A>G" "r.(=)" "p.(=)" "" "0000925967" "00024040" "30" "2621" "-15" "2621" "-15" "c.2621-15T>G" "r.(=)" "p.(=)" "" "0000927788" "00024040" "90" "1744" "0" "1744" "0" "c.1744G>T" "r.(?)" "p.(Glu582*)" "" "0000945932" "00024040" "70" "3291" "213" "3521" "-1224" "c.3291+213_3521-1224del" "r.(3292_3520del)" "p.(Val1098MetfsTer20)" "" "0000950349" "00024040" "50" "6062" "0" "6062" "0" "c.6062G>A" "r.(?)" "p.(Arg2021Gln)" "" "0000958700" "00024040" "70" "5381" "0" "5381" "0" "c.5381T>C" "r.(?)" "p.(Leu1794Pro)" "" "0000959125" "00024040" "90" "5623" "0" "5623" "0" "c.5623C>T" "r.(?)" "p.(Gln1875Ter)" "" "0000967778" "00024040" "30" "4548" "0" "4548" "0" "c.4548C>T" "r.(?)" "p.(=)" "" "0000967779" "00024040" "10" "3818" "0" "3818" "0" "c.3818A>G" "r.(?)" "p.(Lys1273Arg)" "" "0000967780" "00024040" "50" "3809" "0" "3809" "0" "c.3809T>A" "r.(?)" "p.(Val1270Asp)" "" "0000967783" "00024040" "50" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Ala10Thr)" "" "0000981224" "00024040" "30" "6258" "0" "6258" "0" "c.6258G>T" "r.(?)" "p.(Leu2086=)" "" "0000981225" "00024040" "50" "4562" "0" "4562" "0" "c.4562C>T" "r.(?)" "p.(Ser1521Leu)" "" "0000981226" "00024040" "50" "3595" "0" "3595" "0" "c.3595T>G" "r.(?)" "p.(Phe1199Val)" "" "0000981227" "00024040" "30" "3420" "0" "3420" "0" "c.3420G>A" "r.(?)" "p.(Leu1140=)" "" "0000981228" "00024040" "50" "3161" "0" "3161" "0" "c.3161T>C" "r.(?)" "p.(Phe1054Ser)" "" "0000981229" "00024040" "50" "2757" "0" "2775" "0" "c.2757_2775del" "r.(?)" "p.(Leu920Thrfs*10)" "" "0000981230" "00024040" "50" "2318" "0" "2318" "0" "c.2318T>G" "r.(?)" "p.(Val773Gly)" "" "0000981231" "00024040" "10" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Ser331=)" "" "0000981232" "00024040" "30" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Asn278Ser)" "" "0001001425" "00024040" "30" "6632" "0" "6632" "0" "c.6632G>A" "r.(?)" "p.(Arg2211His)" "" "0001001426" "00024040" "50" "6062" "0" "6062" "0" "c.6062G>A" "r.(?)" "p.(Arg2021Gln)" "" "0001001427" "00024040" "90" "2444" "1" "2444" "1" "c.2444+1G>C" "r.spl?" "p.?" "" "0001001428" "00024040" "90" "2444" "0" "2444" "0" "c.2444G>C" "r.(?)" "p.(Arg815Thr)" "" "0001001429" "00024040" "30" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0001001430" "00024040" "50" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Gly15Asp)" "" "0001011884" "00024040" "90" "6205" "1" "6205" "1" "c.6205+1G>A" "r.spl" "p.?" "" "0001011925" "00024040" "90" "6832" "0" "6833" "0" "c.6832_6833del" "r.(?)" "p.(Ser2278LeufsTer61)" "" "0001011932" "00024040" "90" "442" "1" "442" "1" "c.442+1G>C" "r.spl" "p.?" "" "0001012001" "00024040" "90" "869" "1" "869" "1" "c.869+1G>A" "r.spl" "p.?" "" "0001015197" "00024040" "10" "4744" "-6" "4744" "-6" "c.4744-6T>C" "r.(=)" "p.(=)" "" "0001026437" "00024040" "90" "6811" "0" "6812" "0" "c.6811_6812del" "r.(?)" "p.(Leu2271Aspfs*68)" "" "0001026438" "00024040" "50" "3425" "0" "3425" "0" "c.3425C>G" "r.(?)" "p.(Ser1142Cys)" "" "0001040361" "00024040" "50" "7115" "0" "7115" "0" "c.7115T>A" "r.(?)" "p.(Leu2372*)" "" "0001040362" "00024040" "50" "6878" "0" "6878" "0" "c.6878G>A" "r.(?)" "p.(Arg2293Gln)" "" "0001040363" "00024040" "50" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Arg2209Cys)" "" "0001040364" "00024040" "50" "6522" "0" "6525" "0" "c.6522_6525del" "r.(?)" "p.(Ile2175Leufs*13)" "" "0001040365" "00024040" "50" "6250" "0" "6250" "0" "c.6250C>T" "r.(?)" "p.(Leu2084Phe)" "" "0001040366" "00024040" "30" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0001040367" "00024040" "90" "6100" "0" "6100" "0" "c.6100C>T" "r.(?)" "p.(Arg2034Ter)" "" "0001040368" "00024040" "30" "5796" "0" "5796" "0" "c.5796T>C" "r.(?)" "p.(His1932=)" "" "0001040369" "00024040" "50" "4085" "0" "4085" "0" "c.4085T>C" "r.(?)" "p.(Leu1362Pro)" "" "0001040370" "00024040" "50" "3808" "0" "3808" "0" "c.3808G>A" "r.(?)" "p.(Val1270Ile)" "" "0001040371" "00024040" "50" "3730" "0" "3730" "0" "c.3730T>G" "r.(?)" "p.(Ser1244Ala)" "" "0001040372" "00024040" "50" "3558" "0" "3558" "0" "c.3558C>G" "r.(?)" "p.(Asp1186Glu)" "" "0001040373" "00024040" "50" "3454" "0" "3454" "0" "c.3454T>G" "r.(?)" "p.(Ser1152Ala)" "" "0001040374" "00024040" "30" "3291" "9" "3291" "9" "c.3291+9A>G" "r.(=)" "p.(=)" "" "0001040375" "00024040" "50" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540His)" "" "0001040376" "00024040" "50" "1592" "0" "1592" "0" "c.1592A>T" "r.(?)" "p.(His531Leu)" "" "0001040377" "00024040" "50" "1573" "0" "1575" "0" "c.1573_1575dup" "r.(?)" "p.(Arg525dup)" "" "0001040378" "00024040" "90" "733" "0" "734" "0" "c.733_734del" "r.(?)" "p.(Met245ValfsTer2)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 107 "{{screeningid}}" "{{variantid}}" "0000039594" "0000067195" "0000039595" "0000067196" "0000039595" "0000067197" "0000047196" "0000075866" "0000047197" "0000075867" "0000047198" "0000075868" "0000047199" "0000075869" "0000059104" "0000090050" "0000059217" "0000090056" "0000059219" "0000090058" "0000059251" "0000090115" "0000059252" "0000090116" "0000059252" "0000090117" "0000059253" "0000090118" "0000059253" "0000090119" "0000059254" "0000090120" "0000059254" "0000090121" "0000059255" "0000090122" "0000059256" "0000090123" "0000059256" "0000090124" "0000059257" "0000090125" "0000059257" "0000090126" "0000059258" "0000090127" "0000059258" "0000090128" "0000059259" "0000090129" "0000059259" "0000090130" "0000059260" "0000090131" "0000059260" "0000090132" "0000059261" "0000090133" "0000059262" "0000090134" "0000059263" "0000090135" "0000059263" "0000090136" "0000081191" "0000130277" "0000145475" "0000237847" "0000151017" "0000244176" "0000184424" "0000408469" "0000219114" "0000453952" "0000275218" "0000629179" "0000290453" "0000647120" "0000292384" "0000649073" "0000292385" "0000649074" "0000292386" "0000649075" "0000292387" "0000649076" "0000292388" "0000649077" "0000292389" "0000649078" "0000292390" "0000649079" "0000292391" "0000649080" "0000292392" "0000649081" "0000296319" "0000653008" "0000296667" "0000653357" "0000296924" "0000659576" "0000297085" "0000659696" "0000297085" "0000659697" "0000297099" "0000659714" "0000297977" "0000660686" "0000301433" "0000664368" "0000306457" "0000670145" "0000307913" "0000674734" "0000308450" "0000682857" "0000319185" "0000701849" "0000325532" "0000708547" "0000326094" "0000880113" "0000363128" "0000763559" "0000363129" "0000763560" "0000373993" "0000784673" "0000373993" "0000784674" "0000375702" "0000787053" "0000375703" "0000787054" "0000375704" "0000787055" "0000375705" "0000787056" "0000375905" "0000787583" "0000375905" "0000787584" "0000405127" "0000841193" "0000405135" "0000841201" "0000405147" "0000841213" "0000405161" "0000841235" "0000405163" "0000841236" "0000405286" "0000841362" "0000405287" "0000841363" "0000405289" "0000841365" "0000405297" "0000841375" "0000405300" "0000841378" "0000405336" "0000841422" "0000405337" "0000841423" "0000405338" "0000841424" "0000405339" "0000841425" "0000405340" "0000841426" "0000408288" "0000845165" "0000408288" "0000845186" "0000408289" "0000845166" "0000409935" "0000847151" "0000409935" "0000847178" "0000415340" "0000873168" "0000415341" "0000873169" "0000415342" "0000873170" "0000415343" "0000873171" "0000429385" "0000908858" "0000429385" "0000908927" "0000433971" "0000919623" "0000436682" "0000927788" "0000444089" "0000945932" "0000448933" "0000958700" "0000448933" "0000959125" "0000457381" "0001011884" "0000457422" "0001011925" "0000457422" "0001012001" "0000457429" "0001011932"