### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMPD1) # 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}}" "SMPD1" "sphingomyelin phosphodiesterase 1, acid lysosomal" "11" "p15.4-p15.1" "unknown" "NG_011780.1" "UD_132084525988" "" "http://www.LOVD.nl/SMPD1" "" "1" "11120" "6609" "607608" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/SMPD1_codingDNA.html" "1" "" "" "0" "" "-1" "00002" "2010-04-29 00:00:00" "00006" "2020-12-24 09:23:00" "00000" "2022-05-09 15:51:19" ## 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}}" "00025590" "SMPD1" "transcript variant 1" "001" "NM_000543.4" "" "NP_000534.3" "" "" "" "-185" "2287" "1896" "6411644" "6416228" "00006" "2020-12-24 09:14:17" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{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" "" "" "00128" "CF" "cystic fibrosis (CF)" "AR" "219700" "" "" "" "00006" "2013-05-14 09:22:43" "00006" "2021-12-10 21:51:32" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01974" "NPA" "Niemann-Pick disease, type A (NPA)" "AR" "257200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-12-24 09:21:04" "02678" "NPB" "Niemann-Pick disease, type B (NPB)" "AR" "607616" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-12-24 09:21:26" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05812" "NP" "Niemann-Pick disease (NP)" "" "" "" "" "" "00006" "2020-08-13 16:01:35" "00006" "2020-12-24 09:23:19" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SMPD1" "00139" "SMPD1" "01974" "SMPD1" "02678" "SMPD1" "05812" ## Individuals ## Do not remove or alter this header ## ## Count = 143 "{{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}}" "00000004" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000011" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "M" "" "" "" "0" "" "" "" "NA04364" "00000013" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000017" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000018" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000020" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000023" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000030" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000034" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000035" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000036" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000037" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000038" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000042" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000045" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000046" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000058" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000060" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000061" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000064" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000065" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000067" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000071" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000072" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000073" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000080" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000081" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000084" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000089" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000091" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000092" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000093" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000094" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000095" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00029724" "" "" "" "6" "" "01222" "" "" "-" "no" "Chile" "" "0" "" "" "" "" "00206261" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206262" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206263" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206264" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206265" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206266" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206267" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206268" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206269" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206270" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206271" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206272" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206273" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206274" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206275" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206276" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206277" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206278" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206279" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206280" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206281" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206282" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206283" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206284" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206285" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206286" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206287" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206288" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206289" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206290" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206291" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206292" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206293" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206294" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206295" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206296" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206297" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206298" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206299" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206300" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206301" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206302" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206303" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206304" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206305" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206306" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206307" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206308" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206309" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206310" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206311" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206312" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206313" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206314" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206315" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206316" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206317" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206318" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206319" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206320" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206321" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206322" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206323" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206324" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206325" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206326" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206327" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206328" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206329" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206330" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206331" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206332" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206333" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206334" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206335" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206336" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206337" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206338" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206339" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206340" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206341" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206342" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206343" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206344" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206345" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206346" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206347" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206348" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206349" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206350" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206351" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206352" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206353" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00206354" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00290466" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290467" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290468" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290469" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290470" "" "" "" "107" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290471" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295131" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302676" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00304313" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00324690" "" "" "" "1" "" "03962" "" "" "" "" "" "" "0" "" "" "" "" "00359605" "" "" "" "1" "" "01164" "" "" "F" "?" "Turkey" "" "0" "" "" "" "177328" "00362815" "" "" "" "1" "" "04054" "Abtahi2021 submitted" "" "M" "yes" "(Iran)" "" "" "" "" "" "" "00362828" "" "" "" "1" "" "04054" "Abtahi2021 submitted" "" "F" "no" "(Iran)" "" "" "" "" "" "" "00362829" "" "" "" "1" "" "04054" "Abtahi2021 submitted" "" "M" "no" "Iran" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 138 "{{individualid}}" "{{diseaseid}}" "00000011" "00128" "00000011" "00138" "00000011" "05103" "00000011" "05378" "00000013" "00138" "00000013" "05378" "00000017" "00138" "00000017" "05378" "00000018" "00138" "00000018" "05378" "00000023" "05378" "00000030" "00000" "00000038" "04270" "00000094" "00198" "00029724" "02678" "00206262" "02678" "00206263" "02678" "00206264" "01974" "00206265" "02678" "00206266" "02678" "00206267" "02678" "00206268" "01974" "00206268" "02678" "00206269" "02678" "00206270" "01974" "00206270" "02678" "00206271" "02678" "00206272" "02678" "00206273" "01974" "00206274" "02678" "00206275" "02678" "00206276" "02678" "00206277" "01974" "00206277" "02678" "00206278" "02678" "00206279" "01974" "00206279" "02678" "00206280" "02678" "00206281" "02678" "00206282" "01974" "00206282" "02678" "00206283" "01974" "00206283" "02678" "00206284" "02678" "00206285" "01974" "00206286" "02678" "00206287" "01974" "00206288" "01974" "00206288" "02678" "00206289" "01974" "00206289" "02678" "00206290" "02678" "00206291" "02678" "00206292" "01974" "00206292" "02678" "00206293" "01974" "00206293" "02678" "00206294" "01974" "00206295" "01974" "00206296" "02678" "00206297" "01974" "00206298" "01974" "00206299" "02678" "00206300" "02678" "00206301" "02678" "00206302" "01974" "00206302" "02678" "00206303" "02678" "00206304" "01974" "00206305" "02678" "00206306" "02678" "00206307" "02678" "00206308" "02678" "00206309" "01974" "00206309" "02678" "00206310" "01974" "00206310" "02678" "00206311" "02678" "00206312" "01974" "00206313" "02678" "00206314" "02678" "00206315" "02678" "00206316" "01974" "00206317" "01974" "00206317" "02678" "00206318" "02678" "00206319" "02678" "00206320" "02678" "00206321" "02678" "00206322" "01974" "00206323" "01974" "00206324" "02678" "00206325" "02678" "00206326" "02678" "00206327" "01974" "00206328" "01974" "00206329" "02678" "00206330" "01974" "00206330" "02678" "00206331" "01974" "00206331" "02678" "00206332" "02678" "00206333" "01974" "00206334" "02678" "00206335" "02678" "00206336" "02678" "00206337" "02678" "00206338" "02678" "00206339" "01974" "00206340" "01974" "00206341" "02678" "00206342" "02678" "00206343" "01974" "00206344" "02678" "00206345" "02678" "00206346" "02678" "00206347" "02678" "00206348" "01974" "00206349" "02678" "00206350" "02678" "00206351" "02678" "00206352" "01974" "00206353" "02678" "00206354" "02678" "00290466" "00198" "00290467" "00198" "00290468" "00198" "00290469" "00198" "00290470" "00198" "00290471" "00198" "00295131" "00198" "00302676" "00198" "00304313" "00198" "00324690" "05812" "00359605" "01974" "00362815" "01974" "00362828" "01974" "00362829" "01974" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00128, 00138, 00139, 00198, 01974, 02678, 04270, 05103, 05378, 05812 ## Count = 9 "{{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}}" "0000015274" "00187" "00000004" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025732" "02678" "00029724" "01222" "Familial, autosomal recessive" "" "severe hepatosplenomegaly, recurrent epistaxis" "" "" "" "" "" "" "" "" "" "" "" "0000180197" "01907" "00000045" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229757" "00198" "00302676" "01807" "Unknown" "" "Failure to thrive in infancy (HP:0001531); Intrahepatic cholestasis (HP:0001406); Hepatosplenomegaly (HP:0001433)" "" "" "" "" "" "" "" "" "" "" "" "0000243363" "05812" "00324690" "03962" "Unknown" "" "" "" "" "" "" "" "" "" "" "NPB" "Niemann-Pick disease" "" "0000254878" "01974" "00359605" "01164" "Unknown" "00y02m" "Lysosomal storage disease, developmental delay, conspicuous liver biopsy. Liver biopsy, cMRI abnormal (myelination disorder, dysplasia, grandfather with liver disease)." "" "" "" "" "" "" "" "" "" "" "" "0000258185" "01974" "00362815" "04054" "Familial, autosomal recessive" "" "HP:0002240 Hepatomegaly\r\nHP:0001744 Splenomegaly\r\nHP:0001263 Global developmental delay" "" "" "type A" "" "" "" "" "" "niemann-pick typeA" "niemann-pick typeA" "" "0000258198" "01974" "00362828" "04054" "Familial, autosomal recessive" "" "HP:0002240 Hepatomegaly\r\nHP:0001744 Splenomegaly\r\nHP:0001263 Global developmental delay" "" "" "" "" "" "" "" "" "niemann-pick typeA" "niemann-pick typeA" "" "0000258199" "01974" "00362829" "04054" "Familial, autosomal recessive" "" "HP:0002240 Hepatomegaly\r\nHP:0001744 Splenomegaly\r\nHP:0002376 Developmental regression\r\nHP:0002540 Inability to walk" "" "" "type A" "" "" "" "" "" "niemann-pick typeA" "niemann-pick typeA" "" ## Screenings ## Do not remove or alter this header ## ## Count = 143 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000004" "00000004" "1" "00004" "" "2012-05-11 13:18:36" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000011" "00000011" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2021-10-11 11:49:29" "SEQ-NG" "DNA" "" "" "0000000013" "00000013" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000017" "00000017" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000018" "00000018" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000020" "00000020" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000023" "00000023" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000030" "00000030" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000034" "00000034" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000035" "00000035" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000036" "00000036" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000037" "00000037" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000038" "00000038" "1" "00004" "" "2012-05-11 13:18:45" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000042" "00000042" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000045" "00000045" "1" "00004" "" "2012-05-11 13:18:47" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000046" "00000046" "1" "00004" "" "2012-05-11 13:18:48" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000058" "00000058" "1" "00004" "" "2012-05-11 13:18:53" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000060" "00000060" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000061" "00000061" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000064" "00000064" "1" "00004" "" "2012-05-11 13:18:55" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000065" "00000065" "1" "00004" "" "2012-05-11 13:18:56" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000067" "00000067" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000071" "00000071" "1" "00004" "" "2012-05-11 13:18:58" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000072" "00000072" "1" "00004" "" "2012-05-11 13:18:59" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000073" "00000073" "1" "00004" "" "2012-05-11 13:18:59" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000080" "00000080" "1" "00004" "" "2012-05-11 13:19:05" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000081" "00000081" "1" "00004" "" "2012-05-11 13:19:05" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000084" "00000084" "1" "00004" "" "2012-05-11 13:19:09" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000089" "00000089" "1" "00004" "" "2012-05-11 13:19:15" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000091" "00000091" "1" "00004" "" "2012-05-11 13:19:17" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000092" "00000092" "1" "00004" "" "2012-05-11 13:19:17" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000093" "00000093" "1" "00004" "" "2012-05-11 13:19:20" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000094" "00000094" "1" "00004" "" "2012-05-11 13:19:21" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000095" "00000095" "1" "00004" "" "2012-05-11 13:19:24" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000029770" "00029724" "1" "01222" "01222" "2015-02-02 19:23:42" "" "" "SEQ" "DNA" "blood (PBMC)" "" "0000207293" "00206261" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207294" "00206262" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207295" "00206263" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207296" "00206264" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207297" "00206265" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207298" "00206266" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207299" "00206267" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207300" "00206268" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207301" "00206269" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207302" "00206270" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207303" "00206271" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207304" "00206272" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207305" "00206273" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207306" "00206274" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207307" "00206275" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207308" "00206276" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207309" "00206277" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207310" "00206278" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207311" "00206279" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207312" "00206280" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207313" "00206281" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207314" "00206282" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207315" "00206283" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207316" "00206284" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207317" "00206285" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207318" "00206286" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207319" "00206287" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207320" "00206288" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207321" "00206289" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207322" "00206290" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207323" "00206291" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207324" "00206292" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207325" "00206293" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207326" "00206294" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207327" "00206295" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207328" "00206296" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207329" "00206297" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207330" "00206298" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207331" "00206299" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207332" "00206300" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207333" "00206301" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207334" "00206302" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207335" "00206303" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207336" "00206304" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207337" "00206305" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207338" "00206306" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207339" "00206307" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207340" "00206308" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207341" "00206309" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207342" "00206310" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207343" "00206311" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207344" "00206312" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207345" "00206313" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207346" "00206314" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207347" "00206315" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207348" "00206316" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207349" "00206317" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207350" "00206318" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207351" "00206319" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207352" "00206320" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207353" "00206321" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207354" "00206322" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207355" "00206323" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207356" "00206324" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207357" "00206325" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207358" "00206326" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207359" "00206327" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207360" "00206328" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207361" "00206329" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207362" "00206330" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207363" "00206331" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207364" "00206332" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207365" "00206333" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207366" "00206334" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207367" "00206335" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207368" "00206336" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207369" "00206337" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207370" "00206338" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207371" "00206339" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207372" "00206340" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207373" "00206341" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207374" "00206342" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207375" "00206343" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207376" "00206344" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207377" "00206345" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207378" "00206346" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207379" "00206347" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207380" "00206348" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207381" "00206349" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207382" "00206350" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207383" "00206351" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207384" "00206352" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207385" "00206353" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000207386" "00206354" "1" "00233" "00233" "2012-08-14 09:33:56" "" "" "SEQ" "DNA" "" "" "0000291634" "00290466" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291635" "00290467" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291636" "00290468" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291637" "00290469" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291638" "00290470" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291639" "00290471" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296299" "00295131" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303801" "00302676" "1" "01807" "01807" "2020-05-27 17:24:01" "" "" "SEQ" "DNA" "" "" "0000305442" "00304313" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325897" "00324690" "1" "03962" "03962" "2020-12-23 14:58:20" "" "" "SEQ" "DNA" "" "" "0000360835" "00359605" "1" "01164" "01164" "2021-03-30 17:49:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000364043" "00362815" "1" "04054" "04054" "2021-04-23 16:38:15" "" "" "SEQ" "DNA" "leukocytes" "" "0000364056" "00362828" "1" "04054" "04054" "2021-04-23 17:04:16" "" "" "SEQ" "DNA" "leukocytes" "" "0000364057" "00362829" "1" "04054" "04054" "2021-04-23 17:37:32" "" "" "SEQ" "DNA" "leukocytes" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 464 "{{screeningid}}" "{{geneid}}" "0000000004" "ACADM" "0000000004" "AGL" "0000000004" "DPYD" "0000000004" "ETFB" "0000000004" "GAA" "0000000004" "HESX1" "0000000004" "NHLRC1" "0000000004" "NPHS1" "0000000004" "SBDS" "0000000004" "SLC26A2" "0000000004" "SMPD1" "0000000011" "ACADM" "0000000011" "ADA" "0000000011" "ATP7B" "0000000011" "ATR" "0000000011" "CFTR" "0000000011" "DMD" "0000000011" "DPYD" "0000000011" "GLB1" "0000000011" "IGHMBP2" "0000000011" "NHLRC1" "0000000011" "SERPINA1" "0000000011" "SMPD1" "0000000011" "TNNT1" "0000000013" "AGL" "0000000013" "ATP7B" "0000000013" "COL7A1" "0000000013" "HADHA" "0000000013" "MEFV" "0000000013" "NHLRC1" "0000000013" "PAH" "0000000013" "SMPD1" "0000000017" "ALG6" "0000000017" "ASPA" "0000000017" "ATP7B" "0000000017" "DPYD" "0000000017" "GLB1" "0000000017" "LAMA2" "0000000017" "MMACHC" "0000000017" "MPL" "0000000017" "MYO5A" "0000000017" "NHLRC1" "0000000017" "NPHS1" "0000000017" "SERPINA1" "0000000017" "SMPD1" "0000000018" "ALG6" "0000000018" "ASPA" "0000000018" "ATP7B" "0000000018" "DPYD" "0000000018" "GLB1" "0000000018" "LAMA2" "0000000018" "MMACHC" "0000000018" "MPL" "0000000018" "MYO5A" "0000000018" "NHLRC1" "0000000018" "NPHS1" "0000000018" "SERPINA1" "0000000018" "SMPD1" "0000000020" "ALPL" "0000000020" "ATP7B" "0000000020" "ETFB" "0000000020" "GLB1" "0000000020" "IGHMBP2" "0000000020" "MKS1" "0000000020" "MYO5A" "0000000020" "NHLRC1" "0000000020" "NPHS1" "0000000020" "SERPINA1" "0000000020" "SLC26A2" "0000000020" "SMPD1" "0000000023" "ALPL" "0000000023" "ATP7B" "0000000023" "CBS" "0000000023" "CEP290" "0000000023" "COL17A1" "0000000023" "CYP21A2" "0000000023" "DPYD" "0000000023" "GBA" "0000000023" "GLB1" "0000000023" "NHLRC1" "0000000023" "SERPINA1" "0000000023" "SLC26A2" "0000000023" "SLC3A1" "0000000023" "SMPD1" "0000000030" "ADA" "0000000030" "ATP7B" "0000000030" "CPT2" "0000000030" "GALC" "0000000030" "HEXB" "0000000030" "IGHMBP2" "0000000030" "NHLRC1" "0000000030" "SBDS" "0000000030" "SERPINA1" "0000000030" "SLC26A2" "0000000030" "SMPD1" "0000000030" "TTPA" "0000000030" "WNT10A" "0000000034" "ATP7B" "0000000034" "CBS" "0000000034" "CYP21A2" "0000000034" "DPYD" "0000000034" "ETFB" "0000000034" "GLB1" "0000000034" "GNPTAB" "0000000034" "IGHMBP2" "0000000034" "NHLRC1" "0000000034" "SERPINA1" "0000000034" "SLC26A2" "0000000034" "SMPD1" "0000000035" "ADA" "0000000035" "ATP7B" "0000000035" "BLM" "0000000035" "CFTR" "0000000035" "DPYD" "0000000035" "ETFB" "0000000035" "GLB1" "0000000035" "HBB" "0000000035" "IGHMBP2" "0000000035" "MYO5A" "0000000035" "PKHD1" "0000000035" "SERPINA1" "0000000035" "SMPD1" "0000000036" "AHI1" "0000000036" "ATP7B" "0000000036" "CYP21A2" "0000000036" "DPYD" "0000000036" "ETFB" "0000000036" "GLB1" "0000000036" "HEXB" "0000000036" "LAMA2" "0000000036" "SMPD1" "0000000037" "ATM" "0000000037" "ATP7B" "0000000037" "DPYD" "0000000037" "ETFB" "0000000037" "HEXB" "0000000037" "NHLRC1" "0000000037" "NPHS1" "0000000037" "SBDS" "0000000037" "SLC26A2" "0000000037" "SLC3A1" "0000000037" "SMN1" "0000000037" "SMPD1" "0000000038" "ALS2" "0000000038" "ATP7B" "0000000038" "CFTR" "0000000038" "DPYD" "0000000038" "GLB1" "0000000038" "HEXB" "0000000038" "MTHFR" "0000000038" "MYO5A" "0000000038" "NHLRC1" "0000000038" "SMPD1" "0000000042" "ATP7B" "0000000042" "DPYD" "0000000042" "ETFB" "0000000042" "GLB1" "0000000042" "IGHMBP2" "0000000042" "JAK3" "0000000042" "NPHP4" "0000000042" "NPHS1" "0000000042" "POLG" "0000000042" "QARS" "0000000042" "SERPINA1" "0000000042" "SLC26A2" "0000000042" "SMPD1" "0000000045" "ATP2B3" "0000000045" "ATP7B" "0000000045" "DPYD" "0000000045" "IGHMBP2" "0000000045" "MYO5A" "0000000045" "SERPINA1" "0000000045" "SMPD1" "0000000046" "AGXT" "0000000046" "ATP7B" "0000000046" "CFTR" "0000000046" "CYP27A1" "0000000046" "DPYD" "0000000046" "EHMT1" "0000000046" "GLB1" "0000000046" "IGHMBP2" "0000000046" "NPHS1" "0000000046" "POLG" "0000000046" "SERPINA1" "0000000046" "SMPD1" "0000000058" "ALDH5A1" "0000000058" "ATP7B" "0000000058" "CFTR" "0000000058" "CYP21A2" "0000000058" "GBA" "0000000058" "HEXB" "0000000058" "IGHMBP2" "0000000058" "MEFV" "0000000058" "MYO5A" "0000000058" "NHLRC1" "0000000058" "NPHS1" "0000000058" "PKHD1" "0000000058" "PMM2" "0000000058" "SERPINA1" "0000000058" "SLC26A2" "0000000058" "SMPD1" "0000000060" "ATP7B" "0000000060" "CFTR" "0000000060" "ENPP1" "0000000060" "GBA" "0000000060" "GLB1" "0000000060" "NHLRC1" "0000000060" "NPC2" "0000000060" "NPHS1" "0000000060" "SMPD1" "0000000061" "ADA" "0000000061" "ATP7B" "0000000061" "BTD" "0000000061" "ETFB" "0000000061" "GLB1" "0000000061" "HEXB" "0000000061" "HSPG2" "0000000061" "MTHFR" "0000000061" "POMGNT1" "0000000061" "SERPINA1" "0000000061" "SMPD1" "0000000064" "ATP7B" "0000000064" "CYP21A2" "0000000064" "ETFB" "0000000064" "FKTN" "0000000064" "GLB1" "0000000064" "HEXB" "0000000064" "IGHMBP2" "0000000064" "LYST" "0000000064" "NHLRC1" "0000000064" "PMM2" "0000000064" "SBDS" "0000000064" "SMPD1" "0000000065" "ATP7B" "0000000065" "CFTR" "0000000065" "ETFB" "0000000065" "GLB1" "0000000065" "MPL" "0000000065" "NHLRC1" "0000000065" "NPHS1" "0000000065" "SERPINA1" "0000000065" "SMPD1" "0000000067" "ASPA" "0000000067" "ATP7B" "0000000067" "CDH23" "0000000067" "CPT1A" "0000000067" "CYP21A2" "0000000067" "ETFB" "0000000067" "GALC" "0000000067" "GLB1" "0000000067" "MEFV" "0000000067" "MTHFR" "0000000067" "MVK" "0000000067" "NHLRC1" "0000000067" "NPHS1" "0000000067" "SERPINA1" "0000000067" "SLC26A2" "0000000067" "SMPD1" "0000000067" "WNT10A" "0000000071" "ATP7B" "0000000071" "ETFB" "0000000071" "LAMA2" "0000000071" "MTHFR" "0000000071" "NHLRC1" "0000000071" "NPC1" "0000000071" "OFD1" "0000000071" "PAH" "0000000071" "SERPINA1" "0000000071" "SMPD1" "0000000072" "ARSB" "0000000072" "ATP7B" "0000000072" "CYP21A2" "0000000072" "ETFB" "0000000072" "GLB1" "0000000072" "IGHMBP2" "0000000072" "MTHFR" "0000000072" "NHLRC1" "0000000072" "NPHS1" "0000000072" "PMM2" "0000000072" "PPT1" "0000000072" "SERPINA1" "0000000072" "SMPD1" "0000000073" "ATP7B" "0000000073" "ETFB" "0000000073" "GALT" "0000000073" "GLB1" "0000000073" "IGHMBP2" "0000000073" "MTHFR" "0000000073" "NHLRC1" "0000000073" "SMPD1" "0000000080" "ATP7B" "0000000080" "CDH23" "0000000080" "HBA1" "0000000080" "NPHS1" "0000000080" "SERPINA1" "0000000080" "SMPD1" "0000000081" "ADAMTS13" "0000000081" "ATP7B" "0000000081" "CDH23" "0000000081" "ETFB" "0000000081" "FKTN" "0000000081" "GLB1" "0000000081" "HEXB" "0000000081" "NPHS1" "0000000081" "SERPINA1" "0000000081" "SMPD1" "0000000084" "ADA" "0000000084" "CPT1A" "0000000084" "FKRP" "0000000084" "GAA" "0000000084" "GLB1" "0000000084" "MYO5A" "0000000084" "NHLRC1" "0000000084" "NPHS1" "0000000084" "RAG1" "0000000084" "SERPINA1" "0000000084" "SMPD1" "0000000089" "ATP7B" "0000000089" "BTD" "0000000089" "CFTR" "0000000089" "ETFB" "0000000089" "GALC" "0000000089" "GLB1" "0000000089" "IGHMBP2" "0000000089" "SMPD1" "0000000091" "GALC" "0000000091" "IGHMBP2" "0000000091" "MYO5A" "0000000091" "NHLRC1" "0000000091" "SMPD1" "0000000092" "ATP8B1" "0000000092" "ETFB" "0000000092" "GLB1" "0000000092" "IGHMBP2" "0000000092" "LAMA2" "0000000092" "MYO5A" "0000000092" "NPHS1" "0000000092" "SMPD1" "0000000093" "ATP7A" "0000000093" "ATP7B" "0000000093" "GLB1" "0000000093" "HBA1" "0000000093" "SERPINA1" "0000000093" "SMPD1" "0000000094" "AHI1" "0000000094" "ARSB" "0000000094" "ATP7B" "0000000094" "BTD" "0000000094" "ENPP1" "0000000094" "ETFB" "0000000094" "GCDH" "0000000094" "GLB1" "0000000094" "INVS" "0000000094" "MYO5A" "0000000094" "NPHS1" "0000000094" "SERPINA1" "0000000094" "SMPD1" "0000000095" "ATP7B" "0000000095" "CFTR" "0000000095" "GLB1" "0000000095" "HEXB" "0000000095" "NHLRC1" "0000000095" "NPHS1" "0000000095" "SMPD1" "0000029770" "SMPD1" "0000207293" "SMPD1" "0000207294" "SMPD1" "0000207295" "SMPD1" "0000207296" "SMPD1" "0000207297" "SMPD1" "0000207298" "SMPD1" "0000207299" "SMPD1" "0000207300" "SMPD1" "0000207301" "SMPD1" "0000207302" "SMPD1" "0000207303" "SMPD1" "0000207304" "SMPD1" "0000207305" "SMPD1" "0000207306" "SMPD1" "0000207307" "SMPD1" "0000207308" "SMPD1" "0000207309" "SMPD1" "0000207310" "SMPD1" "0000207311" "SMPD1" "0000207312" "SMPD1" "0000207313" "SMPD1" "0000207314" "SMPD1" "0000207315" "SMPD1" "0000207316" "SMPD1" "0000207317" "SMPD1" "0000207318" "SMPD1" "0000207319" "SMPD1" "0000207320" "SMPD1" "0000207321" "SMPD1" "0000207322" "SMPD1" "0000207323" "SMPD1" "0000207324" "SMPD1" "0000207325" "SMPD1" "0000207326" "SMPD1" "0000207327" "SMPD1" "0000207328" "SMPD1" "0000207329" "SMPD1" "0000207330" "SMPD1" "0000207331" "SMPD1" "0000207332" "SMPD1" "0000207333" "SMPD1" "0000207334" "SMPD1" "0000207335" "SMPD1" "0000207336" "SMPD1" "0000207337" "SMPD1" "0000207338" "SMPD1" "0000207339" "SMPD1" "0000207340" "SMPD1" "0000207341" "SMPD1" "0000207342" "SMPD1" "0000207343" "SMPD1" "0000207344" "SMPD1" "0000207345" "SMPD1" "0000207346" "SMPD1" "0000207347" "SMPD1" "0000207348" "SMPD1" "0000207349" "SMPD1" "0000207350" "SMPD1" "0000207351" "SMPD1" "0000207352" "SMPD1" "0000207353" "SMPD1" "0000207354" "SMPD1" "0000207355" "SMPD1" "0000207356" "SMPD1" "0000207357" "SMPD1" "0000207358" "SMPD1" "0000207359" "SMPD1" "0000207360" "SMPD1" "0000207361" "SMPD1" "0000207362" "SMPD1" "0000207363" "SMPD1" "0000207364" "SMPD1" "0000207365" "SMPD1" "0000207366" "SMPD1" "0000207367" "SMPD1" "0000207368" "SMPD1" "0000207369" "SMPD1" "0000207370" "SMPD1" "0000207371" "SMPD1" "0000207372" "SMPD1" "0000207373" "SMPD1" "0000207374" "SMPD1" "0000207375" "SMPD1" "0000207376" "SMPD1" "0000207377" "SMPD1" "0000207378" "SMPD1" "0000207379" "SMPD1" "0000207380" "SMPD1" "0000207381" "SMPD1" "0000207382" "SMPD1" "0000207383" "SMPD1" "0000207384" "SMPD1" "0000207385" "SMPD1" "0000207386" "SMPD1" "0000325897" "SMPD1" "0000360835" "SMPD1" "0000364043" "SMPD1" "0000364056" "SMPD1" "0000364057" "SMPD1" ## 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 = 235 "{{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}}" "0000000233" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000234" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000235" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000237" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000238" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000239" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000240" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000241" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000242" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000243" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000244" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000245" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000246" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000247" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000248" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000249" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000250" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000251" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000252" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000253" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000254" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000255" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000256" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000257" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000258" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000259" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000260" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000261" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000262" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000263" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000264" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000265" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000266" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000267" "0" "50" "11" "6415463" "6415463" "subst" "0.191733" "00002" "SMPD1_000101" "g.6415463G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394233G>A" "" "VUS" "" "0000000268" "0" "50" "11" "6413182" "6413182" "subst" "0.00344012" "00002" "SMPD1_000102" "g.6413182G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6391952G>A" "" "VUS" "" "0000000269" "0" "50" "11" "6415769" "6415772" "del" "0" "00002" "SMPD1_000103" "g.6415769_6415772del" "" "" "" "chr11:g.6372345_6372348delCCG" "" "Germline" "" "" "0" "" "" "g.6394539_6394542del" "" "VUS" "" "0000000270" "0" "50" "11" "6415434" "6415434" "subst" "0.000130149" "00002" "SMPD1_000104" "g.6415434G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6394204G>T" "" "VUS" "" "0000055843" "3" "90" "11" "6413371" "6413371" "subst" "0" "01222" "SMPD1_000105" "g.6413371C>A" "12/12 chromosomes" "" "" "" "" "Germline" "" "" "0" "" "" "g.6392141C>A" "" "pathogenic" "" "0000255810" "0" "50" "11" "6415491" "6415491" "subst" "0.00227131" "01943" "SMPD1_000137" "g.6415491A>T" "" "" "" "SMPD1(NM_000543.4):c.1550A>T (p.E517V), SMPD1(NM_000543.5):c.1550A>T (p.E517V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6394261A>T" "" "VUS" "" "0000298410" "0" "10" "11" "6411935" "6411935" "subst" "0.554175" "02325" "SMPD1_000115" "g.6411935T>C" "" "" "" "SMPD1(NM_000543.4):c.107T>C (p.V36A, p.(Val36Ala)), SMPD1(NM_000543.4):c.107_113delTGCTGGCinsCGCTGGC (p.V36A), SMPD1(NM_000543.5):c.103_108delCTGGT..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390705T>C" "" "benign" "" "0000298413" "0" "30" "11" "6411935" "6411940" "del" "0.00282575" "02325" "SMPD1_000111" "g.6411935_6411940del" "" "" "" "SMPD1(NM_000543.5):c.107_112delTGCTGG (p.V36_L37del), SMPD1(NM_001318087.1):c.107_112delTGCTGG (p.V36_L37del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390705_6390710del" "" "likely benign" "" "0000298415" "0" "10" "11" "6411935" "6411946" "del" "0.0701334" "02325" "SMPD1_000112" "g.6411935_6411946del" "" "" "" "SMPD1(NM_000543.4):c.107_118delTGCTGGCGCTGG (p.V36_L39del), SMPD1(NM_000543.5):c.107_118delTGCTGGCGCTGG (p.V36_L39del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390705_6390716del" "" "benign" "" "0000298416" "0" "30" "11" "6413366" "6413366" "subst" "0.00503845" "02325" "SMPD1_000130" "g.6413366C>T" "" "" "" "SMPD1(NM_000543.5):c.1071C>T (p.A357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6392136C>T" "" "likely benign" "" "0000298418" "0" "30" "11" "6411936" "6411937" "ins" "0.0114646" "02325" "SMPD1_000116" "g.6411936_6411937insGCGCTGGCG" "" "" "" "SMPD1(NM_000543.4):c.109_113delCTGGCinsGCGCTGGCGCTGGC (p.V36_L37insALA), SMPD1(NM_000543.5):c.109_113delCTGGCinsGCGCTGGCGCTGGC (p.V36_L37insALA), S..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390706_6390707insGCGCTGGCG" "" "likely benign" "" "0000298419" "0" "10" "11" "6411966" "6411971" "del" "0" "02325" "SMPD1_000119" "g.6411966_6411971del" "" "" "" "SMPD1(NM_000543.4):c.138_143delGCTGGC (p.A48_L49del), SMPD1(NM_000543.5):c.138_143delGCTGGC (p.A48_L49del), SMPD1(NM_001318087.1):c.138_143delGCTGG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390736_6390741del" "" "benign" "" "0000298421" "0" "90" "11" "6415434" "6415434" "subst" "0.000130149" "02325" "SMPD1_000104" "g.6415434G>T" "" "" "" "SMPD1(NM_000543.5):c.1493G>T (p.R498L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6394204G>T" "" "pathogenic" "" "0000298422" "0" "10" "11" "6415463" "6415463" "subst" "0.191733" "02325" "SMPD1_000101" "g.6415463G>A" "" "" "" "SMPD1(NM_000543.5):c.1522G>A (p.G508R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6394233G>A" "" "benign" "" "0000298423" "0" "90" "11" "6415770" "6415772" "del" "0" "02325" "SMPD1_000139" "g.6415770_6415772del" "" "" "" "SMPD1(NM_000543.5):c.1829_1831delGCC (p.R610del), SMPD1(NM_001318088.1):c.908_910delGCC (p.R303del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6394540_6394542del" "" "pathogenic" "" "0000298424" "0" "10" "11" "6412931" "6412931" "subst" "0.123604" "02325" "SMPD1_000123" "g.6412931T>C" "" "" "" "SMPD1(NM_000543.5):c.636T>C (p.D212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6391701T>C" "" "benign" "" "0000298425" "0" "30" "11" "6411836" "6411836" "subst" "0.00056458" "02325" "SMPD1_000106" "g.6411836G>A" "" "" "" "SMPD1(NM_000543.5):c.8G>A (p.R3H), SMPD1(NM_001318087.1):c.8G>A (p.R3H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390606G>A" "" "likely benign" "" "0000298426" "0" "90" "11" "6413206" "6413206" "subst" "0.0000162439" "02325" "SMPD1_000126" "g.6413206T>C" "" "" "" "SMPD1(NM_000543.5):c.911T>C (p.L304P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6391976T>C" "" "pathogenic" "" "0000298427" "0" "90" "11" "6413285" "6413285" "del" "0" "02325" "SMPD1_000127" "g.6413285del" "" "" "" "SMPD1(NM_000543.5):c.990delC (p.F333Sfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6392055del" "" "pathogenic" "" "0000302362" "0" "10" "11" "6411935" "6411946" "del" "0.0701334" "02326" "SMPD1_000112" "g.6411935_6411946del" "" "" "" "SMPD1(NM_000543.4):c.107_118delTGCTGGCGCTGG (p.V36_L39del), SMPD1(NM_000543.5):c.107_118delTGCTGGCGCTGG (p.V36_L39del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390705_6390716del" "" "benign" "" "0000302363" "0" "30" "11" "6411935" "6411952" "del" "0.00147828" "02326" "SMPD1_000113" "g.6411935_6411952del" "" "" "" "SMPD1(NM_000543.5):c.107_124delTGCTGGCGCTGGCGCTGG (p.V36_L41del), SMPD1(NM_001318087.1):c.107_124delTGCTGGCGCTGGCGCTGG (p.V36_L41del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390705_6390722del" "" "likely benign" "" "0000302364" "0" "10" "11" "6411935" "6411935" "subst" "0.554175" "02326" "SMPD1_000115" "g.6411935T>C" "" "" "" "SMPD1(NM_000543.4):c.107T>C (p.V36A, p.(Val36Ala)), SMPD1(NM_000543.4):c.107_113delTGCTGGCinsCGCTGGC (p.V36A), SMPD1(NM_000543.5):c.103_108delCTGGT..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390705T>C" "" "benign" "" "0000302365" "0" "30" "11" "6415245" "6415245" "subst" "0.00283034" "02326" "SMPD1_000133" "g.6415245C>T" "" "" "" "SMPD1(NM_000543.5):c.1460C>T (p.A487V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6394015C>T" "" "likely benign" "" "0000302366" "0" "10" "11" "6415690" "6415690" "subst" "0.0196835" "02326" "SMPD1_000138" "g.6415690G>A" "" "" "" "SMPD1(NM_000543.4):c.1749G>A (p.S583=), SMPD1(NM_000543.5):c.1749G>A (p.S583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6394460G>A" "" "benign" "" "0000308633" "0" "30" "11" "6413317" "6413317" "subst" "0.0000243778" "01943" "SMPD1_000129" "g.6413317G>A" "" "" "" "SMPD1(NM_000543.4):c.1022G>A (p.R341H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6392087G>A" "" "likely benign" "" "0000308636" "0" "50" "11" "6411935" "6411935" "subst" "0.554175" "01943" "SMPD1_000115" "g.6411935T>C" "" "" "" "SMPD1(NM_000543.4):c.107T>C (p.V36A, p.(Val36Ala)), SMPD1(NM_000543.4):c.107_113delTGCTGGCinsCGCTGGC (p.V36A), SMPD1(NM_000543.5):c.103_108delCTGGT..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390705T>C" "" "VUS" "" "0000308637" "0" "10" "11" "6411935" "6411946" "del" "0.0701334" "01943" "SMPD1_000112" "g.6411935_6411946del" "" "" "" "SMPD1(NM_000543.4):c.107_118delTGCTGGCGCTGG (p.V36_L39del), SMPD1(NM_000543.5):c.107_118delTGCTGGCGCTGG (p.V36_L39del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390705_6390716del" "" "benign" "" "0000308639" "0" "10" "11" "6411936" "6411937" "ins" "0.0114646" "01943" "SMPD1_000116" "g.6411936_6411937insGCGCTGGCG" "" "" "" "SMPD1(NM_000543.4):c.109_113delCTGGCinsGCGCTGGCGCTGGC (p.V36_L37insALA), SMPD1(NM_000543.5):c.109_113delCTGGCinsGCGCTGGCGCTGGC (p.V36_L37insALA), S..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390706_6390707insGCGCTGGCG" "" "benign" "" "0000308641" "0" "10" "11" "6411954" "6411971" "del" "0" "01943" "SMPD1_000118" "g.6411954_6411971del" "" "" "" "SMPD1(NM_001318087.1):c.126_143delGCTGGCGCTGGCGCTGGC (p.A44_L49del), SMPD1(NM_001318087.2):c.126_143delGCTGGCGCTGGCGCTGGC (p.A44_L49del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390724_6390741del" "" "benign" "" "0000308642" "0" "30" "11" "6414931" "6414931" "subst" "0.0000287278" "01943" "SMPD1_000132" "g.6414931G>A" "" "" "" "SMPD1(NM_000543.4):c.1340+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6393701G>A" "" "likely benign" "" "0000308643" "0" "10" "11" "6411966" "6411971" "del" "0" "01943" "SMPD1_000119" "g.6411966_6411971del" "" "" "" "SMPD1(NM_000543.4):c.138_143delGCTGGC (p.A48_L49del), SMPD1(NM_000543.5):c.138_143delGCTGGC (p.A48_L49del), SMPD1(NM_001318087.1):c.138_143delGCTGG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390736_6390741del" "" "benign" "" "0000308644" "0" "50" "11" "6415259" "6415259" "subst" "0.000970653" "01943" "SMPD1_000134" "g.6415259G>A" "" "" "" "SMPD1(NM_000543.4):c.1474G>A (p.G492S, p.(Gly492Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6394029G>A" "" "VUS" "" "0000308645" "0" "10" "11" "6415690" "6415690" "subst" "0.0196835" "01943" "SMPD1_000138" "g.6415690G>A" "" "" "" "SMPD1(NM_000543.4):c.1749G>A (p.S583=), SMPD1(NM_000543.5):c.1749G>A (p.S583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6394460G>A" "" "benign" "" "0000308646" "0" "50" "11" "6412786" "6412786" "subst" "0" "01943" "SMPD1_000122" "g.6412786G>T" "" "" "" "SMPD1(NM_000543.4):c.491G>T (p.G164V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6391556G>T" "" "VUS" "" "0000308647" "0" "30" "11" "6413057" "6413057" "subst" "0.000240974" "01943" "SMPD1_000124" "g.6413057G>A" "" "" "" "SMPD1(NM_001318087.1):c.762G>A (p.L254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6391827G>A" "" "likely benign" "" "0000308648" "0" "50" "11" "6413103" "6413103" "subst" "0.000215737" "01943" "SMPD1_000125" "g.6413103G>A" "" "" "" "SMPD1(NM_000543.4):c.808G>A (p.G270S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6391873G>A" "" "VUS" "" "0000321994" "0" "50" "11" "6411935" "6411935" "subst" "0.554175" "01804" "SMPD1_000115" "g.6411935T>C" "" "" "" "SMPD1(NM_000543.4):c.107T>C (p.V36A, p.(Val36Ala)), SMPD1(NM_000543.4):c.107_113delTGCTGGCinsCGCTGGC (p.V36A), SMPD1(NM_000543.5):c.103_108delCTGGT..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6390705T>C" "" "VUS" "" "0000321996" "0" "30" "11" "6413290" "6413290" "subst" "0.000434585" "01804" "SMPD1_000128" "g.6413290C>G" "" "" "" "SMPD1(NM_000543.4):c.995C>G (p.(Pro332Arg)), SMPD1(NM_001318088.1):c.34C>G (p.P12A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6392060C>G" "" "likely benign" "" "0000321997" "0" "30" "11" "6414920" "6414920" "subst" "0.0000123079" "01804" "SMPD1_000131" "g.6414920C>G" "" "" "" "SMPD1(NM_000543.4):c.1337C>G (p.(Ala446Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6393690C>G" "" "likely benign" "" "0000321998" "0" "30" "11" "6415259" "6415259" "subst" "0.000970653" "01804" "SMPD1_000134" "g.6415259G>A" "" "" "" "SMPD1(NM_000543.4):c.1474G>A (p.G492S, p.(Gly492Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6394029G>A" "" "likely benign" "" "0000436942" "0" "11" "11" "6411935" "6411935" "subst" "0.554175" "00233" "SMPD1_000001" "g.6411935T>C" "" "{PMID:Hua 2012:22613662}" "" "" "submitted through SIB; {EXP:038191}; {dbSNP1050228}" "Unknown" "" "" "0" "" "" "g.6390705T>C" "" "benign" "" "0000436943" "0" "95" "11" "6411980" "6411980" "subst" "0.0000122438" "00233" "SMPD1_000010" "g.6411980A>T" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060870}" "Unknown" "" "" "0" "" "" "g.6390750A>T" "" "pathogenic" "" "0000436944" "0" "95" "11" "6412110" "6412110" "subst" "0" "00233" "SMPD1_000011" "g.6412110C>G" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060871}" "Unknown" "" "" "0" "" "" "g.6390880C>G" "" "pathogenic" "" "0000436945" "0" "95" "11" "6412142" "6412142" "subst" "0.00000407047" "00233" "SMPD1_000048" "g.6412142T>C" "" "{PMID:Ricci 2004:15221801}" "" "" "submitted through SIB; {EXP:060872}" "Unknown" "" "" "0" "" "" "g.6390912T>C" "" "pathogenic" "" "0000436946" "0" "95" "11" "6412690" "6412690" "subst" "0" "00233" "SMPD1_000061" "g.6412690T>C" "" "{PMID:Dardis 2005:16010684}" "" "" "submitted through SIB; {EXP:060873}" "Unknown" "" "" "0" "" "" "g.6391460T>C" "" "pathogenic" "" "0000436947" "0" "95" "11" "6412711" "6412711" "subst" "0" "00233" "SMPD1_000012" "g.6412711T>C" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060874}" "Unknown" "" "" "0" "" "" "g.6391481T>C" "" "pathogenic" "" "0000436948" "0" "95" "11" "6412770" "6412770" "subst" "0" "00233" "SMPD1_000013" "g.6412770T>C" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:011387}" "Unknown" "" "" "0" "" "" "g.6391540T>C" "" "pathogenic" "" "0000436949" "0" "95" "11" "6412797" "6412797" "subst" "0" "00233" "SMPD1_000063" "g.6412797G>A" "" "{PMID:Pavl?-Pereira 2005:15877209}" "" "p.Gly166Arg" "submitted through SIB; {EXP:060875}" "Unknown" "" "" "0" "" "" "g.6391567G>A" "" "pathogenic" "" "0000436950" "0" "95" "11" "6412828" "6412828" "subst" "0.0000304915" "00233" "SMPD1_000064" "g.6412828T>A" "" "{PMID:Müssig 2006:16472269}" "" "p.Ile176Asn" "submitted through SIB; {EXP:060876}" "Unknown" "" "" "0" "" "" "g.6391598T>A" "" "pathogenic" "" "0000436951" "0" "95" "11" "6412852" "6412852" "subst" "0" "00233" "SMPD1_000065" "g.6412852C>T" "" "{PMID:Pavl?-Pereira 2005:15877209}" "" "p.Pro184Leu" "submitted through SIB; {EXP:060877}" "Unknown" "" "" "0" "" "" "g.6391622C>T" "" "pathogenic" "" "0000436952" "0" "95" "11" "6412887" "6412887" "subst" "0" "00233" "SMPD1_000014" "g.6412887G>C" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060878}" "Unknown" "" "" "0" "" "" "g.6391657G>C" "" "pathogenic" "" "0000436953" "0" "95" "11" "6412899" "6412899" "subst" "0.0000132644" "00233" "SMPD1_000015" "g.6412899C>T" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060879}" "Unknown" "" "" "0" "" "" "g.6391669C>T" "" "pathogenic" "" "0000436954" "0" "97" "11" "6412926" "6412926" "subst" "0" "00233" "SMPD1_000005" "g.6412926T>C" "" "{PMID:Desnick 2010:20386867}" "" "" "submitted through SIB; {EXP:068435}; The mutation results in less than 0.5% of wild-type activity as shown by in vitro expression studies" "Unknown" "" "" "0" "" "" "g.6391696T>C" "" "pathogenic" "" "0000436955" "0" "95" "11" "6412974" "6412974" "subst" "0" "00233" "SMPD1_000016" "g.6412974C>A" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060880}" "Unknown" "" "" "0" "" "" "g.6391744C>A" "" "pathogenic" "" "0000436956" "0" "95" "11" "6412975" "6412975" "subst" "0.00000413572" "00233" "SMPD1_000056" "g.6412975T>C" "" "{PMID:Pittis 2004:15241805}" "" "" "submitted through SIB; {EXP:060881}" "Unknown" "" "" "0" "" "" "g.6391745T>C" "" "pathogenic" "" "0000436957" "0" "95" "11" "6412983" "6412983" "subst" "0.00000413911" "00233" "SMPD1_000017" "g.6412983C>T" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060882}" "Unknown" "" "" "0" "" "" "g.6391753C>T" "" "pathogenic" "" "0000436958" "0" "95" "11" "6412984" "6412984" "subst" "0.000202759" "00233" "SMPD1_000066" "g.6412984G>A" "" "{PMID:Pavl?-Pereira 2005:15877209}" "" "p.Arg228His" "submitted through SIB; {EXP:060883}" "Unknown" "" "" "0" "" "" "g.6391754G>A" "" "pathogenic" "" "0000436959" "0" "95" "11" "6412996" "6412996" "subst" "0" "00233" "SMPD1_000018" "g.6412996G>A" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060884}" "Unknown" "" "" "0" "" "" "g.6391766G>A" "" "pathogenic" "" "0000436960" "0" "95" "11" "6413023" "6413023" "subst" "0" "00233" "SMPD1_000067" "g.6413023C>T" "" "{PMID:Pavl?-Pereira 2005:15877209}" "" "p.Ala241Val" "submitted through SIB; {EXP:060885}" "Unknown" "" "" "0" "" "" "g.6391793C>T" "" "pathogenic" "" "0000436961" "0" "95" "11" "6413025" "6413025" "subst" "0.0000287576" "00233" "SMPD1_000072" "g.6413025G>A" "" "{PMID:Takahashi 1992:1618760}" "" "" "submitted through SIB; {EXP:005058}" "Unknown" "" "" "0" "" "" "g.6391795G>A" "" "pathogenic" "" "0000436962" "0" "95" "11" "6413033" "6413033" "subst" "0" "00233" "SMPD1_000057" "g.6413033G>C" "" "{PMID:Pittis 2004:15241805}" "" "" "submitted through SIB; {EXP:060886}" "Unknown" "" "" "0" "" "" "g.6391803G>C" "" "pathogenic" "" "0000436963" "0" "95" "11" "6413034" "6413034" "subst" "0.0000287024" "00233" "SMPD1_000019" "g.6413034G>A" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060887}" "Unknown" "" "" "0" "" "" "g.6391804G>A" "" "pathogenic" "" "0000436964" "0" "95" "11" "6413034" "6413034" "subst" "0.0000287024" "00233" "SMPD1_000019" "g.6413034G>A" "" "{PMID:Ricci 2004:15221801}" "" "" "submitted through SIB; {EXP:060887}" "Unknown" "" "" "0" "" "" "g.6391804G>A" "" "pathogenic" "" "0000436965" "0" "95" "11" "6413036" "6413037" "delins" "0" "00233" "SMPD1_000074" "g.6413036_6413037delinsGC" "" "{PMID:Ida 1996:8664904}" "" "p.Glu245Gln" "submitted through SIB; {EXP:005059}" "Unknown" "" "" "0" "" "" "g.6391806_6391807delinsGC" "" "pathogenic" "" "0000436966" "0" "95" "11" "6413037" "6413037" "subst" "0" "00233" "SMPD1_000049" "g.6413037G>A" "" "{PMID:Ricci 2004:15221801}" "" "" "submitted through SIB; {EXP:060888}" "Unknown" "" "" "0" "" "" "g.6391807G>A" "" "pathogenic" "" "0000436967" "0" "95" "11" "6413045" "6413045" "subst" "0" "00233" "SMPD1_000020" "g.6413045C>A" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:015287}" "Unknown" "" "" "0" "" "" "g.6391815C>A" "" "pathogenic" "" "0000436968" "0" "97" "11" "6413052" "6413052" "subst" "0.0000204345" "00233" "SMPD1_000006" "g.6413052G>C" "" "{PMID:Desnick 2010:20386867}" "" "" "submitted through SIB; {EXP:068436}; The mutation results in loss of activity as shown by in vitro expression studies" "Unknown" "" "" "0" "" "" "g.6391822G>C" "" "pathogenic" "" "0000436969" "0" "95" "11" "6413054" "6413054" "subst" "0" "00233" "SMPD1_000068" "g.6413054C>A" "" "{PMID:Pavl?-Pereira 2005:15877209}" "" "p.Asp251Glu" "submitted through SIB; {EXP:060889}" "Unknown" "" "" "0" "" "" "g.6391824C>A" "" "pathogenic" "" "0000436970" "0" "95" "11" "6413134" "6413134" "subst" "0" "00233" "SMPD1_000069" "g.6413134A>C" "" "{PMID:Pavl?-Pereira 2005:15877209}" "" "p.Asp278Ala" "submitted through SIB; {EXP:060890}" "Unknown" "" "" "0" "" "" "g.6391904A>C" "" "pathogenic" "" "0000436971" "0" "95" "11" "6413142" "6413142" "subst" "0.0000203224" "00233" "SMPD1_000058" "g.6413142G>A" "" "{PMID:Pittis 2004:15241805}" "" "" "submitted through SIB; {EXP:060891}" "Unknown" "" "" "0" "" "" "g.6391912G>A" "" "pathogenic" "" "0000436972" "0" "95" "11" "6413167" "6413167" "subst" "0.00110479" "00233" "SMPD1_000021" "g.6413167G>A" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060892}" "Unknown" "" "" "0" "" "" "g.6391937G>A" "" "pathogenic" "" "0000436973" "0" "95" "11" "6413175" "6413175" "subst" "0.0000121852" "00233" "SMPD1_000059" "g.6413175C>A" "" "{PMID:Pittis 2004:15241805}" "" "" "submitted through SIB; {EXP:060893}" "Unknown" "" "" "0" "" "" "g.6391945C>A" "" "pathogenic" "" "0000436974" "0" "95" "11" "6413175" "6413175" "subst" "0.0000121852" "00233" "SMPD1_000059" "g.6413175C>A" "" "{PMID:Pavl?-Pereira 2005:15877209}" "" "" "submitted through SIB; {EXP:060893}" "Unknown" "" "" "0" "" "" "g.6391945C>A" "" "pathogenic" "" "0000436975" "0" "95" "11" "6413182" "6413182" "subst" "0.00344012" "00233" "SMPD1_000050" "g.6413182G>A" "" "{PMID:Ricci 2004:15221801}" "" "" "submitted through SIB; {EXP:060894}" "Unknown" "" "" "0" "" "" "g.6391952G>A" "" "pathogenic" "" "0000436976" "0" "95" "11" "6413206" "6413206" "subst" "0.0000162439" "00233" "SMPD1_000075" "g.6413206T>C" "" "{PMID:Levran 1992:1391960}" "" "" "submitted through SIB; {EXP:005060}" "Unknown" "" "" "0" "" "" "g.6391976T>C" "" "pathogenic" "" "0000436977" "0" "97" "11" "6413235" "6413235" "subst" "0.00000406098" "00233" "SMPD1_000007" "g.6413235G>A" "" "{PMID:Desnick 2010:20386867}" "" "" "submitted through SIB; {EXP:068437}; The mutation results in 20% of wild-type activity as shown by in vitro expression studies" "Unknown" "" "" "0" "" "" "g.6392005G>A" "" "pathogenic" "" "0000436978" "0" "95" "11" "6413238" "6413238" "subst" "0" "00233" "SMPD1_000051" "g.6413238T>C" "" "{PMID:Ricci 2004:15221801}" "" "" "submitted through SIB; {EXP:060895}" "Unknown" "" "" "0" "" "" "g.6392008T>C" "" "pathogenic" "" "0000436979" "0" "95" "11" "6413256" "6413256" "subst" "0" "00233" "SMPD1_000076" "g.6413256C>T" "" "{PMID:Sikora 2003:12556236}" "" "p.His319Tyr" "submitted through SIB; {EXP:015288}" "Unknown" "" "" "0" "" "" "g.6392026C>T" "" "pathogenic" "" "0000436980" "0" "95" "11" "6413268" "6413268" "subst" "0.00000406111" "00233" "SMPD1_000022" "g.6413268C>G" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060896}" "Unknown" "" "" "0" "" "" "g.6392038C>G" "" "pathogenic" "" "0000436981" "0" "95" "11" "6413290" "6413290" "subst" "0.000434585" "00233" "SMPD1_000003" "g.6413290C>G" "" "{PMID:Lan 2009:19050888}" "" "" "submitted through SIB; {EXP:060897}" "Unknown" "" "" "0" "" "" "g.6392060C>G" "" "pathogenic" "" "0000436982" "0" "95" "11" "6413290" "6413290" "subst" "0.000434585" "00233" "SMPD1_000003" "g.6413290C>G" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060897}" "Unknown" "" "" "0" "" "" "g.6392060C>G" "" "pathogenic" "" "0000436983" "0" "95" "11" "6413323" "6413323" "subst" "0" "00233" "SMPD1_000070" "g.6413323T>C" "" "{PMID:Pavl?-Pereira 2005:15877209}" "" "p.Leu341Pro" "submitted through SIB; {EXP:060898}" "Unknown" "" "" "0" "" "" "g.6392093T>C" "" "pathogenic" "" "0000436984" "0" "95" "11" "6413371" "6413371" "subst" "0" "00233" "SMPD1_000023" "g.6413371C>A" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060899}" "Unknown" "" "" "0" "" "" "g.6392141C>A" "" "pathogenic" "" "0000436985" "0" "95" "11" "6414460" "6414460" "subst" "0" "00233" "SMPD1_000080" "g.6414460A>G" "" "{PMID:Rodríguez-Pascau 2009:19405096}" "" "" "submitted through SIB; {EXP:060900}" "Unknown" "" "" "0" "" "" "g.6393230A>G" "" "pathogenic" "" "0000436986" "0" "95" "11" "6414471" "6414471" "subst" "0" "00233" "SMPD1_000079" "g.6414471C>T" "" "{PMID:Sikora 2003:12556236}" "" "p.Pro371Ser" "submitted through SIB; {EXP:015289}" "Unknown" "" "" "0" "" "" "g.6393241C>T" "" "pathogenic" "" "0000436987" "0" "95" "11" "6414487" "6414487" "subst" "0.0000731107" "00233" "SMPD1_000024" "g.6414487G>A" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060901}" "Unknown" "" "" "0" "" "" "g.6393257G>A" "" "pathogenic" "" "0000436988" "0" "95" "11" "6414487" "6414487" "subst" "0" "00233" "SMPD1_000025" "g.6414487G>T" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060902}" "Unknown" "" "" "0" "" "" "g.6393257G>T" "" "pathogenic" "" "0000436989" "0" "95" "11" "6414495" "6414495" "subst" "0" "00233" "SMPD1_000026" "g.6414495T>C" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060903}" "Unknown" "" "" "0" "" "" "g.6393265T>C" "" "pathogenic" "" "0000436990" "0" "95" "11" "6414506" "6414506" "subst" "0" "00233" "SMPD1_000060" "g.6414506G>A" "" "{PMID:Pittis 2004:15241805}" "" "" "submitted through SIB; {EXP:005061}" "Unknown" "" "" "0" "" "" "g.6393276G>A" "" "pathogenic" "" "0000436991" "0" "95" "11" "6414506" "6414506" "subst" "0" "00233" "SMPD1_000060" "g.6414506G>A" "" "{PMID:Takahashi 1992:1618760}" "" "" "submitted through SIB; {EXP:005061}" "Unknown" "" "" "0" "" "" "g.6393276G>A" "" "pathogenic" "" "0000436992" "0" "95" "11" "6414508" "6414508" "subst" "0" "00233" "SMPD1_000073" "g.6414508A>G" "" "{PMID:Takahashi 1992:1618760}" "" "" "submitted through SIB; {EXP:005062}" "Unknown" "" "" "0" "" "" "g.6393278A>G" "" "pathogenic" "" "0000436993" "0" "95" "11" "6414526" "6414526" "subst" "0" "00233" "SMPD1_000085" "g.6414526A>C" "" "{PMID:Schuchman 1995:8680412}" "" "p.Asn389Thr" "submitted through SIB; {EXP:005063}" "Unknown" "" "" "0" "" "" "g.6393296A>C" "" "pathogenic" "" "0000436994" "0" "95" "11" "6414531" "6414531" "subst" "0.00000406111" "00233" "SMPD1_000086" "g.6414531T>G" "" "{PMID:Ferlinz 1995:7762557}" "" "" "submitted through SIB; {EXP:005064}" "Unknown" "" "" "0" "" "" "g.6393301T>G" "" "pathogenic" "" "0000436995" "0" "95" "11" "6414598" "6414598" "subst" "0.00000407103" "00233" "SMPD1_000027" "g.6414598C>T" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060905}" "Unknown" "" "" "0" "" "" "g.6393368C>T" "" "pathogenic" "" "0000436996" "0" "95" "11" "6414850" "6414850" "subst" "0.00000410199" "00233" "SMPD1_000028" "g.6414850C>T" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:015290}" "Unknown" "" "" "0" "" "" "g.6393620C>T" "" "pathogenic" "" "0000436997" "0" "95" "11" "6414851" "6414851" "subst" "0.00000410169" "00233" "SMPD1_000081" "g.6414851A>G" "" "{PMID:Rodríguez-Pascau 2009:19405096}" "" "" "submitted through SIB; {EXP:060906}" "Unknown" "" "" "0" "" "" "g.6393621A>G" "" "pathogenic" "" "0000436998" "0" "97" "11" "6414863" "6414863" "subst" "0.00000820324" "00233" "SMPD1_000008" "g.6414863A>G" "" "{PMID:Desnick 2010:20386867}" "" "" "submitted through SIB; {EXP:068438}; The mutation results in loss of activity as shown by in vitro expression studies. It has been found in a patient also carrying p.Arg230His. Although the p.H427R mutant enzyme has no residual activity when expressed in vitro, the p.R230H enzyme has sufficient activity to account for the Niemann-Pick disease type B phenotype of this patient" "Unknown" "" "" "0" "" "" "g.6393633A>G" "" "pathogenic" "" "0000436999" "0" "95" "11" "6414880" "6414880" "subst" "0.00000410149" "00233" "SMPD1_000029" "g.6414880T>C" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060907}" "Unknown" "" "" "0" "" "" "g.6393650T>C" "" "pathogenic" "" "0000437000" "0" "95" "11" "6414884" "6414884" "subst" "0" "00233" "SMPD1_000030" "g.6414884T>C" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060908}" "Unknown" "" "" "0" "" "" "g.6393654T>C" "" "pathogenic" "" "0000437001" "0" "95" "11" "6414894" "6414894" "subst" "0" "00233" "SMPD1_000031" "g.6414894G>C" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060909}" "Unknown" "" "" "0" "" "" "g.6393664G>C" "" "pathogenic" "" "0000437002" "0" "95" "11" "6414897" "6414897" "subst" "0" "00233" "SMPD1_000088" "g.6414897C>A" "" "{PMID:Takahashi 1992:1301192}" "" "p.Ser436Arg" "submitted through SIB; {EXP:005065}" "Unknown" "" "" "0" "" "" "g.6393667C>A" "" "pathogenic" "" "0000437003" "0" "95" "11" "6415128" "6415128" "subst" "0.0000203039" "00233" "SMPD1_000087" "g.6415128A>G" "" "{PMID:Takahashi 1995:8693491}" "" "" "submitted through SIB; {EXP:011388}" "Unknown" "" "" "0" "" "" "g.6393898A>G" "" "pathogenic" "" "0000437004" "0" "95" "11" "6415140" "6415140" "subst" "0" "00233" "SMPD1_000052" "g.6415140T>C" "" "{PMID:Ricci 2004:15221801}" "" "" "submitted through SIB; {EXP:060910}" "Unknown" "" "" "0" "" "" "g.6393910T>C" "" "pathogenic" "" "0000437005" "0" "95" "11" "6415143" "6415143" "subst" "0" "00233" "SMPD1_000004" "g.6415143C>A" "" "{PMID:Lan 2009:19050888}" "" "" "submitted through SIB; {EXP:068439}" "Unknown" "" "" "0" "" "" "g.6393913C>A" "" "pathogenic" "" "0000437006" "0" "95" "11" "6415146" "6415146" "subst" "0.0000081213" "00233" "SMPD1_000032" "g.6415146C>T" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060911}" "Unknown" "" "" "0" "" "" "g.6393916C>T" "" "pathogenic" "" "0000437007" "0" "95" "11" "6415158" "6415158" "subst" "0" "00233" "SMPD1_000033" "g.6415158G>A" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060912}" "Unknown" "" "" "0" "" "" "g.6393928G>A" "" "pathogenic" "" "0000437008" "0" "95" "11" "6415179" "6415179" "subst" "0.00000406058" "00233" "SMPD1_000077" "g.6415179T>C" "" "{PMID:Sikora 2003:12556236}" "" "p.Phe463Ser" "submitted through SIB; {EXP:015291}" "Unknown" "" "" "0" "" "" "g.6393949T>C" "" "pathogenic" "" "0000437009" "0" "95" "11" "6415191" "6415191" "subst" "0" "00233" "SMPD1_000082" "g.6415191A>C" "" "{PMID:Rodríguez-Pascau 2009:19405096}" "" "" "submitted through SIB; {EXP:060913}" "Unknown" "" "" "0" "" "" "g.6393961A>C" "" "pathogenic" "" "0000437010" "0" "95" "11" "6415211" "6415211" "subst" "0.0000162423" "00233" "SMPD1_000034" "g.6415211C>T" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060914}" "Unknown" "" "" "0" "" "" "g.6393981C>T" "" "pathogenic" "" "0000437011" "0" "95" "11" "6415215" "6415215" "subst" "0.0000243639" "00233" "SMPD1_000035" "g.6415215C>T" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:015292}" "Unknown" "" "" "0" "" "" "g.6393985C>T" "" "pathogenic" "" "0000437012" "0" "95" "11" "6415215" "6415215" "subst" "0.0000243639" "00233" "SMPD1_000035" "g.6415215C>T" "" "{PMID:Ricci 2004:15221801}" "" "" "submitted through SIB; {EXP:015292}" "Unknown" "" "" "0" "" "" "g.6393985C>T" "" "pathogenic" "" "0000437013" "0" "95" "11" "6415231" "6415231" "subst" "0" "00233" "SMPD1_000036" "g.6415231C>A" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060915}" "Unknown" "" "" "0" "" "" "g.6394001C>A" "" "pathogenic" "" "0000437014" "0" "95" "11" "6415236" "6415236" "subst" "0.00000406068" "00233" "SMPD1_000083" "g.6415236C>A" "" "{PMID:Rodríguez-Pascau 2009:19405096}" "" "" "submitted through SIB; {EXP:060916}" "Unknown" "" "" "0" "" "" "g.6394006C>A" "" "pathogenic" "" "0000437015" "0" "95" "11" "6415245" "6415245" "subst" "0.00283034" "00233" "SMPD1_000037" "g.6415245C>T" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060917}" "Unknown" "" "" "0" "" "" "g.6394015C>T" "" "pathogenic" "" "0000437016" "0" "95" "11" "6415247" "6415247" "subst" "0" "00233" "SMPD1_000084" "g.6415247A>G" "" "{PMID:Rodríguez-Pascau 2009:19405096}" "" "" "submitted through SIB; {EXP:060918}" "Unknown" "" "" "0" "" "" "g.6394017A>G" "" "pathogenic" "" "0000437017" "0" "95" "11" "6415253" "6415253" "subst" "0" "00233" "SMPD1_000038" "g.6415253T>A" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060919}" "Unknown" "" "" "0" "" "" "g.6394023T>A" "" "pathogenic" "" "0000437018" "0" "95" "11" "6415271" "6415271" "subst" "0" "00233" "SMPD1_000039" "g.6415271G>A" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060920}" "Unknown" "" "" "0" "" "" "g.6394041G>A" "" "pathogenic" "" "0000437019" "0" "95" "11" "6415433" "6415433" "subst" "0.0000122033" "00233" "SMPD1_000040" "g.6415433C>T" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060921}" "Unknown" "" "" "0" "" "" "g.6394203C>T" "" "pathogenic" "" "0000437020" "0" "95" "11" "6415434" "6415434" "subst" "0.0000122015" "00233" "SMPD1_000054" "g.6415434G>A" "" "{PMID:Ricci 2004:15221801}" "" "" "submitted through SIB; {EXP:060922}" "Unknown" "" "" "0" "" "" "g.6394204G>A" "" "pathogenic" "" "0000437021" "0" "95" "11" "6415434" "6415434" "subst" "0.000130149" "00233" "SMPD1_000053" "g.6415434G>T" "" "{PMID:Ricci 2004:15221801}" "" "" "submitted through SIB; {EXP:005066}" "Unknown" "" "" "0" "" "" "g.6394204G>T" "" "pathogenic" "" "0000437022" "0" "95" "11" "6415489" "6415489" "subst" "0" "00233" "SMPD1_000041" "g.6415489T>G" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060924}" "Unknown" "" "" "0" "" "" "g.6394259T>G" "" "pathogenic" "" "0000437023" "0" "95" "11" "6415491" "6415491" "subst" "0.00227131" "00233" "SMPD1_000042" "g.6415491A>T" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060925}" "Unknown" "" "" "0" "" "" "g.6394261A>T" "" "pathogenic" "" "0000437024" "0" "95" "11" "6415497" "6415497" "subst" "0" "00233" "SMPD1_000055" "g.6415497A>G" "" "{PMID:Ricci 2004:15221801}" "" "" "submitted through SIB; {EXP:060926}" "Unknown" "" "" "0" "" "" "g.6394267A>G" "" "pathogenic" "" "0000437025" "0" "95" "11" "6415506" "6415506" "subst" "0" "00233" "SMPD1_000002" "g.6415506A>G" "" "{PMID:Hua 2012:22613662}" "" "" "submitted through SIB; {EXP:068440}" "Unknown" "" "" "0" "" "" "g.6394276A>G" "" "pathogenic" "" "0000437026" "0" "97" "11" "6415516" "6415516" "subst" "0" "00233" "SMPD1_000009" "g.6415516G>C" "" "{PMID:Desnick 2010:20386867}" "" "" "submitted through SIB; {EXP:068441}; The mutation results in 64% of wild-type activity as shown by in vitro expression studies" "Unknown" "" "" "0" "" "" "g.6394286G>C" "" "pathogenic" "" "0000437027" "0" "95" "11" "6415544" "6415544" "subst" "0" "00233" "SMPD1_000043" "g.6415544T>C" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060927}" "Unknown" "" "" "0" "" "" "g.6394314T>C" "" "pathogenic" "" "0000437028" "0" "95" "11" "6415544" "6415544" "subst" "0" "00233" "SMPD1_000043" "g.6415544T>C" "" "{PMID:Pavl?-Pereira 2005:15877209}" "" "" "submitted through SIB; {EXP:060927}" "Unknown" "" "" "0" "" "" "g.6394314T>C" "" "pathogenic" "" "0000437029" "0" "95" "11" "6415556" "6415556" "subst" "0" "00233" "SMPD1_000078" "g.6415556T>C" "" "{PMID:Sikora 2003:12556236}" "" "p.Tyr537His" "submitted through SIB; {EXP:015293}" "Unknown" "" "" "0" "" "" "g.6394326T>C" "" "pathogenic" "" "0000437030" "0" "95" "11" "6415593" "6415593" "subst" "0" "00233" "SMPD1_000044" "g.6415593T>C" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060928}" "Unknown" "" "" "0" "" "" "g.6394363T>C" "" "pathogenic" "" "0000437031" "0" "95" "11" "6415634" "6415634" "subst" "0" "00233" "SMPD1_000062" "g.6415634G>T" "" "{PMID:Dardis 2005:16010684}" "" "" "submitted through SIB; {EXP:060929}" "Unknown" "" "" "0" "" "" "g.6394404G>T" "" "pathogenic" "" "0000437032" "0" "95" "11" "6415675" "6415675" "subst" "0" "00233" "SMPD1_000045" "g.6415675G>C" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060930}" "Unknown" "" "" "0" "" "" "g.6394445G>C" "" "pathogenic" "" "0000437033" "0" "95" "11" "6415676" "6415676" "subst" "0.00000812262" "00233" "SMPD1_000071" "g.6415676G>A" "" "{PMID:Ferlinz 1991:1718266}" "" "" "submitted through SIB; {EXP:005067}" "Unknown" "" "" "0" "" "" "g.6394446G>A" "" "pathogenic" "" "0000437034" "0" "95" "11" "6415746" "6415746" "subst" "0.0000245572" "00233" "SMPD1_000046" "g.6415746G>A" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060932}" "Unknown" "" "" "0" "" "" "g.6394516G>A" "" "pathogenic" "" "0000437035" "0" "95" "11" "6415746" "6415746" "subst" "0" "00233" "SMPD1_000047" "g.6415746G>C" "" "{PMID:Simonaro 2002:12369017}" "" "" "submitted through SIB; {EXP:060933}" "Unknown" "" "" "0" "" "" "g.6394516G>C" "" "pathogenic" "" "0000544849" "0" "30" "11" "6411836" "6411836" "subst" "0.00056458" "01943" "SMPD1_000106" "g.6411836G>A" "" "" "" "SMPD1(NM_000543.5):c.8G>A (p.R3H), SMPD1(NM_001318087.1):c.8G>A (p.R3H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6390606G>A" "" "likely benign" "" "0000544852" "0" "30" "11" "6411934" "6411935" "ins" "0" "01943" "SMPD1_000141" "g.6411934_6411935insCGCTGG" "" "" "" "SMPD1(NM_000543.4):c.106_107insCGCTGG (p.L35_V36insAL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6390704_6390705insCGCTGG" "" "likely benign" "" "0000544853" "0" "10" "11" "6411934" "6411935" "ins" "0" "02325" "SMPD1_000142" "g.6411934_6411935insCGCTGGCGC" "" "" "" "SMPD1(NM_000543.5):c.106_107insCGCTGGCGC (p.V36delinsALAL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6390704_6390705insCGCTGGCGC" "" "benign" "" "0000544854" "0" "50" "11" "6411934" "6411935" "ins" "0" "01943" "SMPD1_000143" "g.6411934_6411935insCGCTGGCGCTGG" "" "" "" "SMPD1(NM_000543.4):c.106_107insCGCTGGCGCTGG (p.L35_V36insALAL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6390704_6390705insCGCTGGCGCTGG" "" "VUS" "" "0000544859" "0" "10" "11" "6411936" "6411937" "ins" "0.00732967" "01943" "SMPD1_000145" "g.6411936_6411937insGCG" "" "" "" "SMPD1(NM_001318087.1):c.109_113delCTGGCinsGCGCTGGC (p.V36_L37insA)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6390706_6390707insGCG" "" "benign" "" "0000544863" "0" "30" "11" "6412607" "6412607" "subst" "0.0000122502" "01804" "SMPD1_000147" "g.6412607A>T" "" "" "" "SMPD1(NM_000543.4):c.319-7A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391377A>T" "" "likely benign" "" "0000544864" "0" "50" "11" "6412635" "6412635" "subst" "0.000754634" "01943" "SMPD1_000148" "g.6412635G>A" "" "" "" "SMPD1(NM_001318087.1):c.340G>A (p.V114M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391405G>A" "" "VUS" "" "0000544865" "0" "30" "11" "6412859" "6412859" "dup" "0" "01804" "SMPD1_000135" "g.6412859dup" "" "" "" "SMPD1(NM_000543.4):c.558_559insC (p.(Lys189GlnfsTer4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391629dup" "" "likely benign" "" "0000544866" "0" "30" "11" "6412869" "6412869" "subst" "0" "01804" "SMPD1_000149" "g.6412869A>C" "" "" "" "SMPD1(NM_000543.4):c.574A>C (p.(Ser192Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391639A>C" "" "likely benign" "" "0000544867" "0" "30" "11" "6412870" "6412870" "subst" "0" "01943" "SMPD1_000150" "g.6412870G>C" "" "" "" "SMPD1(NM_000543.4):c.575G>C (p.(Ser192Thr)), SMPD1(NM_001318087.1):c.575G>C (p.S192T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391640G>C" "" "likely benign" "" "0000544868" "0" "30" "11" "6412870" "6412870" "subst" "0" "01804" "SMPD1_000150" "g.6412870G>C" "" "" "" "SMPD1(NM_000543.4):c.575G>C (p.(Ser192Thr)), SMPD1(NM_001318087.1):c.575G>C (p.S192T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391640G>C" "" "likely benign" "" "0000544869" "0" "30" "11" "6412878" "6412878" "subst" "0" "01804" "SMPD1_000151" "g.6412878G>C" "" "" "" "SMPD1(NM_000543.4):c.583G>C (p.(Ala195Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391648G>C" "" "likely benign" "" "0000544870" "0" "10" "11" "6412931" "6412931" "subst" "0.123604" "02327" "SMPD1_000123" "g.6412931T>C" "" "" "" "SMPD1(NM_000543.5):c.636T>C (p.D212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391701T>C" "" "benign" "" "0000544871" "0" "10" "11" "6413014" "6413014" "subst" "0.00163447" "01943" "SMPD1_000152" "g.6413014G>A" "" "" "" "SMPD1(NM_001318087.1):c.719G>A (p.R240Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391784G>A" "" "benign" "" "0000544873" "0" "30" "11" "6413108" "6413108" "subst" "0.00430108" "01943" "SMPD1_000153" "g.6413108T>C" "" "" "" "SMPD1(NM_000543.4):c.813T>C (p.P271=), SMPD1(NM_000543.5):c.813T>C (p.P271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391878T>C" "" "likely benign" "" "0000544874" "0" "10" "11" "6413108" "6413108" "subst" "0.00430108" "02326" "SMPD1_000153" "g.6413108T>C" "" "" "" "SMPD1(NM_000543.4):c.813T>C (p.P271=), SMPD1(NM_000543.5):c.813T>C (p.P271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391878T>C" "" "benign" "" "0000544880" "0" "70" "11" "6413256" "6413256" "subst" "0" "02327" "SMPD1_000076" "g.6413256C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6392026C>T" "" "likely pathogenic" "" "0000544881" "0" "30" "11" "6413290" "6413290" "subst" "0.000434585" "01943" "SMPD1_000003" "g.6413290C>G" "" "" "" "SMPD1(NM_000543.4):c.995C>G (p.(Pro332Arg)), SMPD1(NM_001318088.1):c.34C>G (p.P12A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6392060C>G" "" "likely benign" "" "0000544882" "0" "50" "11" "6415215" "6415215" "subst" "0.0000243639" "01943" "SMPD1_000035" "g.6415215C>T" "" "" "" "SMPD1(NM_001318088.1):c.509C>T (p.P170L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6393985C>T" "" "VUS" "" "0000544884" "0" "30" "11" "6415245" "6415245" "subst" "0.00283034" "02325" "SMPD1_000037" "g.6415245C>T" "" "" "" "SMPD1(NM_000543.5):c.1460C>T (p.A487V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6394015C>T" "" "likely benign" "" "0000544886" "0" "10" "11" "6415463" "6415463" "subst" "0.191733" "02327" "SMPD1_000101" "g.6415463G>A" "" "" "" "SMPD1(NM_000543.5):c.1522G>A (p.G508R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6394233G>A" "" "benign" "" "0000544887" "0" "50" "11" "6415475" "6415475" "subst" "0.000475158" "01943" "SMPD1_000155" "g.6415475G>A" "" "" "" "SMPD1(NM_001318088.1):c.613G>A (p.V205M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6394245G>A" "" "VUS" "" "0000544888" "0" "50" "11" "6415491" "6415491" "subst" "0.00227131" "02326" "SMPD1_000042" "g.6415491A>T" "" "" "" "SMPD1(NM_000543.4):c.1550A>T (p.E517V), SMPD1(NM_000543.5):c.1550A>T (p.E517V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6394261A>T" "" "VUS" "" "0000544889" "0" "10" "11" "6415502" "6415502" "subst" "0.000763961" "01943" "SMPD1_000156" "g.6415502C>T" "" "" "" "SMPD1(NM_001318088.1):c.640C>T (p.L214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6394272C>T" "" "benign" "" "0000544890" "0" "50" "11" "6415503" "6415503" "subst" "0" "02327" "SMPD1_000157" "g.6415503T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6394273T>G" "" "VUS" "" "0000544891" "0" "30" "11" "6415530" "6415530" "subst" "0.000288585" "01943" "SMPD1_000158" "g.6415530G>C" "" "" "" "SMPD1(NM_001318088.1):c.668G>C (p.G223A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6394300G>C" "" "likely benign" "" "0000544892" "0" "30" "11" "6415566" "6415566" "subst" "0.00151569" "01943" "SMPD1_000159" "g.6415566G>A" "" "" "" "SMPD1(NM_001318088.1):c.704G>A (p.R235Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6394336G>A" "" "likely benign" "" "0000544893" "0" "50" "11" "6415622" "6415622" "subst" "0.0000081215" "02326" "SMPD1_000160" "g.6415622C>T" "" "" "" "SMPD1(NM_001318088.2):c.760C>T (p.R254C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6394392C>T" "" "VUS" "" "0000544894" "0" "50" "11" "6415770" "6415772" "del" "0" "01943" "SMPD1_000139" "g.6415770_6415772del" "" "" "" "SMPD1(NM_000543.5):c.1829_1831delGCC (p.R610del), SMPD1(NM_001318088.1):c.908_910delGCC (p.R303del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6394540_6394542del" "" "VUS" "" "0000613516" "0" "10" "11" "6411935" "6411935" "subst" "0.554175" "02327" "SMPD1_000001" "g.6411935T>C" "" "" "" "SMPD1(NM_000543.4):c.107T>C (p.V36A, p.(Val36Ala)), SMPD1(NM_000543.4):c.107_113delTGCTGGCinsCGCTGGC (p.V36A), SMPD1(NM_000543.5):c.103_108delCTGGT..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6390705T>C" "" "benign" "" "0000613517" "0" "10" "11" "6411954" "6411971" "del" "0" "02325" "SMPD1_000118" "g.6411954_6411971del" "" "" "" "SMPD1(NM_001318087.1):c.126_143delGCTGGCGCTGGCGCTGGC (p.A44_L49del), SMPD1(NM_001318087.2):c.126_143delGCTGGCGCTGGCGCTGGC (p.A44_L49del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6390724_6390741del" "" "benign" "" "0000613518" "0" "30" "11" "6412632" "6412632" "subst" "0.0000815042" "01943" "SMPD1_000161" "g.6412632C>T" "" "" "" "SMPD1(NM_001318087.1):c.337C>T (p.R113C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391402C>T" "" "likely benign" "" "0000613519" "0" "50" "11" "6412984" "6412984" "subst" "0.000202759" "02325" "SMPD1_000066" "g.6412984G>A" "" "" "" "SMPD1(NM_001318087.2):c.689G>A (p.R230H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391754G>A" "" "VUS" "" "0000613520" "0" "30" "11" "6413003" "6413003" "subst" "0.000128052" "01943" "SMPD1_000162" "g.6413003G>A" "" "" "" "SMPD1(NM_001318087.1):c.708G>A (p.P236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391773G>A" "" "likely benign" "" "0000613523" "0" "30" "11" "6413196" "6413196" "subst" "0.000982805" "02326" "SMPD1_000154" "g.6413196G>A" "" "" "" "SMPD1(NM_001318087.2):c.901G>A (p.V301I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6391966G>A" "" "likely benign" "" "0000613524" "0" "30" "11" "6413399" "6413399" "subst" "0.00010639" "01943" "SMPD1_000163" "g.6413399C>T" "" "" "" "SMPD1(NM_001318088.1):c.143C>T (p.P48L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6392169C>T" "" "likely benign" "" "0000622665" "0" "30" "11" "6414833" "6414833" "subst" "0" "02326" "SMPD1_000164" "g.6414833A>G" "" "" "" "SMPD1(NM_001318088.2):c.343-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6393603A>G" "" "likely benign" "" "0000648323" "1" "50" "11" "6412635" "6412635" "subst" "0.000754634" "03575" "SMPD1_000148" "g.6412635G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs142215226}" "Germline" "" "rs142215226" "0" "" "" "g.6391405G>A" "" "VUS" "" "0000648324" "1" "50" "11" "6413167" "6413167" "subst" "0.00110479" "03575" "SMPD1_000021" "g.6413167G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs1803161}" "Germline" "" "rs1803161" "0" "" "" "g.6391937G>A" "" "VUS" "" "0000648325" "1" "90" "11" "6415565" "6415565" "subst" "0.0000690855" "03575" "SMPD1_000165" "g.6415565C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398123478}" "Germline" "" "rs398123478" "0" "" "" "g.6394335C>T" "" "pathogenic" "" "0000648326" "1" "50" "11" "6415566" "6415566" "subst" "0.00151569" "03575" "SMPD1_000159" "g.6415566G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs113467489}" "Germline" "" "rs113467489" "0" "" "" "g.6394336G>A" "" "VUS" "" "0000648327" "1" "50" "11" "6415690" "6415690" "subst" "0.0196835" "03575" "SMPD1_000138" "g.6415690G>A" "107/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 107 heterozygous; {DB:CLININrs35098198}" "Germline" "" "rs35098198" "0" "" "" "g.6394460G>A" "" "VUS" "" "0000648328" "1" "50" "11" "6415736" "6415736" "subst" "0.0000326544" "03575" "SMPD1_000166" "g.6415736C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs138531908}" "Germline" "" "rs138531908" "0" "" "" "g.6394506C>A" "" "VUS" "" "0000652988" "1" "90" "11" "6413025" "6413025" "subst" "0.0000287576" "03575" "SMPD1_000072" "g.6413025G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs120074122}" "Germline" "" "rs120074122" "0" "" "" "g.6391795G>A" "" "pathogenic" "" "0000656834" "0" "50" "11" "6415616" "6415616" "subst" "0.000487274" "02325" "SMPD1_000167" "g.6415616G>A" "" "" "" "SMPD1(NM_001318088.1):c.754G>A (p.V252I), SMPD1(NM_001318088.2):c.754G>A (p.V252I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6394386G>A" "" "VUS" "" "0000667196" "3" "90" "11" "6412868" "6412868" "del" "0" "01807" "SMPD1_000168" "g.6412868del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.6391638del" "" "pathogenic" "" "0000669130" "3" "50" "11" "6415690" "6415690" "subst" "0.0196835" "03575" "SMPD1_000138" "g.6415690G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs35098198}" "Germline" "" "rs35098198" "0" "" "" "g.6394460G>A" "" "VUS" "" "0000679246" "0" "30" "11" "6411911" "6411911" "subst" "0.000572933" "01943" "SMPD1_000169" "g.6411911C>T" "" "" "" "SMPD1(NM_001318087.1):c.83C>T (p.P28L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679248" "0" "30" "11" "6414930" "6414930" "subst" "0.000324182" "01943" "SMPD1_000170" "g.6414930C>T" "" "" "" "SMPD1(NM_001318088.1):c.419+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679249" "0" "30" "11" "6415616" "6415616" "subst" "0.000487274" "01943" "SMPD1_000167" "g.6415616G>A" "" "" "" "SMPD1(NM_001318088.1):c.754G>A (p.V252I), SMPD1(NM_001318088.2):c.754G>A (p.V252I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691109" "0" "30" "11" "6411935" "6411952" "del" "0.00147828" "01943" "SMPD1_000113" "g.6411935_6411952del" "" "" "" "SMPD1(NM_000543.5):c.107_124delTGCTGGCGCTGGCGCTGG (p.V36_L41del), SMPD1(NM_001318087.1):c.107_124delTGCTGGCGCTGGCGCTGG (p.V36_L41del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691111" "0" "90" "11" "6413235" "6413235" "subst" "0.00000406098" "01943" "SMPD1_000007" "g.6413235G>A" "" "" "" "SMPD1(NM_001318087.1):c.940G>A (p.V314M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691112" "0" "50" "11" "6415179" "6415179" "subst" "0.00000406058" "01943" "SMPD1_000077" "g.6415179T>C" "" "" "" "SMPD1(NM_001318088.1):c.473T>C (p.F158S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000709045" "11" "70" "11" "6411885" "6411888" "dup" "0" "03962" "SMPD1_000171" "g.6411885_6411888dup" "" "" "" "60_61insGGGA" "" "Germline" "" "" "0" "" "" "g.6390655_6390658dup" "" "pathogenic" "ACMG" "0000723547" "0" "10" "11" "6411960" "6411971" "del" "0" "02325" "APBB1_000003" "g.6411960_6411971del" "" "" "" "SMPD1(NM_000543.5):c.132_143delGCTGGCGCTGGC (p.A46_L49del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723548" "0" "30" "11" "6411966" "6411971" "del" "0" "02326" "SMPD1_000119" "g.6411966_6411971del" "" "" "" "SMPD1(NM_000543.4):c.138_143delGCTGGC (p.A48_L49del), SMPD1(NM_000543.5):c.138_143delGCTGGC (p.A48_L49del), SMPD1(NM_001318087.1):c.138_143delGCTGG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723550" "0" "30" "11" "6414909" "6414909" "subst" "0" "01943" "APBB1_000004" "g.6414909C>T" "" "" "" "SMPD1(NM_001318088.1):c.405C>T (p.Y135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723551" "0" "50" "11" "6415491" "6415491" "subst" "0.00227131" "02329" "SMPD1_000042" "g.6415491A>T" "" "" "" "SMPD1(NM_000543.4):c.1550A>T (p.E517V), SMPD1(NM_000543.5):c.1550A>T (p.E517V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723552" "0" "50" "11" "6416777" "6416777" "subst" "0" "01943" "APBB1_000005" "g.6416777G>T" "" "" "" "APBB1(NM_145689.2):c.2114C>A (p.A705D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000760940" "0" "70" "11" "6412711" "6412711" "subst" "0" "01164" "SMPD1_000012" "g.6412711T>C" "" "PMID: 12369017; PMID: 20301544" "" "" "ACMG: Class 4 (PS4, PM3, PM2_SUP, PP3)" "Germline" "?" "" "" "" "" "" "VCV000203424.2" "likely pathogenic (recessive)" "ACMG" "0000760941" "0" "90" "11" "6415198" "6415198" "del" "0" "01164" "SMPD1_000172" "g.6415198del" "" "" "" "" "ACMG PVS1, PM3, PM2_SUP" "Germline" "?" "" "0" "" "" "g.6393968del" "" "pathogenic (recessive)" "ACMG" "0000764795" "3" "90" "11" "6414465" "6414466" "del" "0" "04054" "SMPD1_000173" "g.6414465_6414466del" "" "Abtahi2021 submitted" "" "1110_1111delTC" "" "Germline" "" "" "0" "" "" "g.6393235_6393236del" "" "pathogenic" "" "0000764810" "1" "70" "11" "6415454" "6415458" "delins" "0" "04054" "SMPD1_000174" "g.6415454_6415458delinsGCTCTCACGTGGTC" "" "Abtahi2021 submitted" "" "1513_1518delinsGCTCTCACGTGGTCC" "" "Germline" "" "" "0" "" "" "g.6394224_6394228delinsGCTCTCACGTGGTC" "" "VUS" "ACMG" "0000764811" "1" "90" "11" "6415454" "6415466" "del" "0" "04054" "SMPD1_000175" "g.6415454_6415466del" "" "Abtahi2021 submitted" "" "1513_1525delAACTACTCCGGGA" "" "Germline" "" "" "0" "" "" "g.6394224_6394236del" "" "pathogenic" "ACMG" "0000805246" "0" "30" "11" "6411935" "6411940" "del" "0.00282575" "01943" "SMPD1_000111" "g.6411935_6411940del" "" "" "" "SMPD1(NM_000543.5):c.107_112delTGCTGG (p.V36_L37del), SMPD1(NM_001318087.1):c.107_112delTGCTGG (p.V36_L37del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853071" "0" "50" "11" "6412828" "6412828" "subst" "0.0000304915" "01943" "SMPD1_000064" "g.6412828T>A" "" "" "" "SMPD1(NM_001318087.1):c.533T>A (p.I178N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853072" "0" "30" "11" "6415577" "6415577" "subst" "0.00000812473" "01943" "APBB1_000007" "g.6415577G>A" "" "" "" "SMPD1(NM_001318088.1):c.715G>A (p.G239R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862621" "0" "30" "11" "6412886" "6412886" "subst" "0" "01943" "APBB1_000006" "g.6412886T>C" "" "" "" "SMPD1(NM_001318087.1):c.591T>C (p.G197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 SMPD1 ## Count = 235 "{{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}}" "0000000233" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000234" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000235" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000237" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000238" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000239" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000240" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000241" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000242" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000243" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000244" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000245" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000246" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000247" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000248" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000249" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000250" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000251" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000252" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000253" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000254" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000255" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000256" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000257" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000258" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000259" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000260" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000261" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000262" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000263" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000264" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000265" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000266" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000267" "00025590" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000000268" "00025590" "50" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Arg296Gln)" "" "0000000269" "00025590" "50" "1828" "0" "1831" "0" "c.1828_1831del" "r.(?)" "p.(Arg610Thrfs*2)" "" "0000000270" "00025590" "50" "1493" "0" "1493" "0" "c.1493G>T" "r.(?)" "p.(Arg498Leu)" "" "0000055843" "00025590" "90" "1076" "0" "1076" "0" "c.1076C>A" "r.(?)" "p.(Ala359Asp)" "2" "0000255810" "00025590" "50" "1550" "0" "1550" "0" "c.1550A>T" "r.(?)" "p.(Glu517Val)" "" "0000298410" "00025590" "10" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Val36Ala)" "" "0000298413" "00025590" "30" "107" "0" "112" "0" "c.107_112del" "r.(?)" "p.(Val36_Leu37del)" "" "0000298415" "00025590" "10" "107" "0" "118" "0" "c.107_118del" "r.(?)" "p.(Val36_Leu39del)" "" "0000298416" "00025590" "30" "1071" "0" "1071" "0" "c.1071C>T" "r.(?)" "p.(Ala357=)" "" "0000298418" "00025590" "30" "108" "0" "109" "0" "c.108_109insGCGCTGGCG" "r.(?)" "p.(Val36_Leu37insAlaLeuAla)" "" "0000298419" "00025590" "10" "138" "0" "143" "0" "c.138_143del" "r.(?)" "p.(Ala48_Leu49del)" "" "0000298421" "00025590" "90" "1493" "0" "1493" "0" "c.1493G>T" "r.(?)" "p.(Arg498Leu)" "" "0000298422" "00025590" "10" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000298423" "00025590" "90" "1829" "0" "1831" "0" "c.1829_1831del" "r.(?)" "p.(Arg610del)" "" "0000298424" "00025590" "10" "636" "0" "636" "0" "c.636T>C" "r.(?)" "p.(Asp212=)" "" "0000298425" "00025590" "30" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Arg3His)" "" "0000298426" "00025590" "90" "911" "0" "911" "0" "c.911T>C" "r.(?)" "p.(Leu304Pro)" "" "0000298427" "00025590" "90" "990" "0" "990" "0" "c.990del" "r.(?)" "p.(Phe333SerfsTer52)" "" "0000302362" "00025590" "10" "107" "0" "118" "0" "c.107_118del" "r.(?)" "p.(Val36_Leu39del)" "" "0000302363" "00025590" "30" "107" "0" "124" "0" "c.107_124del" "r.(?)" "p.(Val36_Leu41del)" "" "0000302364" "00025590" "10" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Val36Ala)" "" "0000302365" "00025590" "30" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Ala487Val)" "" "0000302366" "00025590" "10" "1749" "0" "1749" "0" "c.1749G>A" "r.(?)" "p.(Ser583=)" "" "0000308633" "00025590" "30" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Arg341His)" "" "0000308636" "00025590" "50" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Val36Ala)" "" "0000308637" "00025590" "10" "107" "0" "118" "0" "c.107_118del" "r.(?)" "p.(Val36_Leu39del)" "" "0000308639" "00025590" "10" "108" "0" "109" "0" "c.108_109insGCGCTGGCG" "r.(?)" "p.(Val36_Leu37insAlaLeuAla)" "" "0000308641" "00025590" "10" "126" "0" "143" "0" "c.126_143del" "r.(?)" "p.(Ala44_Leu49del)" "" "0000308642" "00025590" "30" "1340" "8" "1340" "8" "c.1340+8G>A" "r.(=)" "p.(=)" "" "0000308643" "00025590" "10" "138" "0" "143" "0" "c.138_143del" "r.(?)" "p.(Ala48_Leu49del)" "" "0000308644" "00025590" "50" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Gly492Ser)" "" "0000308645" "00025590" "10" "1749" "0" "1749" "0" "c.1749G>A" "r.(?)" "p.(Ser583=)" "" "0000308646" "00025590" "50" "491" "0" "491" "0" "c.491G>T" "r.(?)" "p.(Gly164Val)" "" "0000308647" "00025590" "30" "762" "0" "762" "0" "c.762G>A" "r.(?)" "p.(Leu254=)" "" "0000308648" "00025590" "50" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Gly270Ser)" "" "0000321994" "00025590" "50" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Val36Ala)" "" "0000321996" "00025590" "30" "995" "0" "995" "0" "c.995C>G" "r.(?)" "p.(Pro332Arg)" "" "0000321997" "00025590" "30" "1337" "0" "1337" "0" "c.1337C>G" "r.(?)" "p.(Ala446Gly)" "" "0000321998" "00025590" "30" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Gly492Ser)" "" "0000436942" "00025590" "11" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Val36Ala)" "?" "0000436943" "00025590" "95" "152" "0" "152" "0" "c.152A>T" "r.(?)" "p.(Asp51Val)" "?" "0000436944" "00025590" "95" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Cys94Trp)" "?" "0000436945" "00025590" "95" "314" "0" "314" "0" "c.314T>C" "r.(?)" "p.(Leu105Pro)" "?" "0000436946" "00025590" "95" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Val132Ala)" "?" "0000436947" "00025590" "95" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "?" "0000436948" "00025590" "95" "475" "0" "475" "0" "c.475T>C" "r.(?)" "p.(Cys159Arg)" "?" "0000436949" "00025590" "95" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Arg)" "?" "0000436950" "00025590" "95" "533" "0" "533" "0" "c.533T>A" "r.(?)" "p.(Ile178Asn)" "?" "0000436951" "00025590" "95" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Pro186Leu)" "?" "0000436952" "00025590" "95" "592" "0" "592" "0" "c.592G>C" "r.(?)" "p.(Ala198Pro)" "?" "0000436953" "00025590" "95" "604" "0" "604" "0" "c.604C>T" "r.(?)" "p.(Arg202Cys)" "?" "0000436954" "00025590" "97" "631" "0" "631" "0" "c.631T>C" "r.(?)" "p.(Trp211Arg)" "?" "0000436955" "00025590" "95" "679" "0" "679" "0" "c.679C>A" "r.(?)" "p.(Leu227Met)" "?" "0000436956" "00025590" "95" "680" "0" "680" "0" "c.680T>C" "r.(?)" "p.(Leu227Pro)" "?" "0000436957" "00025590" "95" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "?" "0000436958" "00025590" "95" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230His)" "?" "0000436959" "00025590" "95" "701" "0" "701" "0" "c.701G>A" "r.(?)" "p.(Gly234Asp)" "?" "0000436960" "00025590" "95" "728" "0" "728" "0" "c.728C>T" "r.(?)" "p.(Ala243Val)" "?" "0000436961" "00025590" "95" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Gly244Arg)" "?" "0000436962" "00025590" "95" "738" "0" "738" "0" "c.738G>C" "r.(?)" "p.(Trp246Cys)" "?" "0000436963" "00025590" "95" "739" "0" "739" "0" "c.739G>A" "r.(?)" "p.(Gly247Ser)" "?" "0000436964" "00025590" "95" "739" "0" "739" "0" "c.739G>A" "r.(?)" "p.(Gly247Ser)" "?" "0000436965" "00025590" "95" "741" "0" "742" "0" "c.741_742delinsGC" "r.(?)" "p.(Glu248Gln)" "?" "0000436966" "00025590" "95" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Glu248Lys)" "?" "0000436967" "00025590" "95" "750" "0" "750" "0" "c.750C>A" "r.(?)" "p.(Ser250Arg)" "?" "0000436968" "00025590" "97" "757" "0" "757" "0" "c.757G>C" "r.(?)" "p.(Asp253His)" "?" "0000436969" "00025590" "95" "759" "0" "759" "0" "c.759C>A" "r.(?)" "p.(Asp253Glu)" "?" "0000436970" "00025590" "95" "839" "0" "839" "0" "c.839A>C" "r.(?)" "p.(Asp280Ala)" "?" "0000436971" "00025590" "95" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Ala283Thr)" "?" "0000436972" "00025590" "95" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Arg291His)" "?" "0000436973" "00025590" "95" "880" "0" "880" "0" "c.880C>A" "r.(?)" "p.(Gln294Lys)" "?" "0000436974" "00025590" "95" "880" "0" "880" "0" "c.880C>A" "r.(?)" "p.(Gln294Lys)" "?" "0000436975" "00025590" "95" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Arg296Gln)" "?" "0000436976" "00025590" "95" "911" "0" "911" "0" "c.911T>C" "r.(?)" "p.(Leu304Pro)" "?" "0000436977" "00025590" "97" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Val314Met)" "?" "0000436978" "00025590" "95" "943" "0" "943" "0" "c.943T>C" "r.(?)" "p.(Tyr315His)" "?" "0000436979" "00025590" "95" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(His321Tyr)" "?" "0000436980" "00025590" "95" "973" "0" "973" "0" "c.973C>G" "r.(?)" "p.(Pro325Ala)" "?" "0000436981" "00025590" "95" "995" "0" "995" "0" "c.995C>G" "r.(?)" "p.(Pro332Arg)" "?" "0000436982" "00025590" "95" "995" "0" "995" "0" "c.995C>G" "r.(?)" "p.(Pro332Arg)" "?" "0000436983" "00025590" "95" "1028" "0" "1028" "0" "c.1028T>C" "r.(?)" "p.(Leu343Pro)" "?" "0000436984" "00025590" "95" "1076" "0" "1076" "0" "c.1076C>A" "r.(?)" "p.(Ala359Asp)" "?" "0000436985" "00025590" "95" "1106" "0" "1106" "0" "c.1106A>G" "r.(?)" "p.(Tyr369Cys)" "?" "0000436986" "00025590" "95" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Pro373Ser)" "?" "0000436987" "00025590" "95" "1133" "0" "1133" "0" "c.1133G>A" "r.(?)" "p.(Arg378His)" "?" "0000436988" "00025590" "95" "1133" "0" "1133" "0" "c.1133G>T" "r.(?)" "p.(Arg378Leu)" "?" "0000436989" "00025590" "95" "1141" "0" "1141" "0" "c.1141T>C" "r.(?)" "p.(Ser381Pro)" "?" "0000436990" "00025590" "95" "1152" "0" "1152" "0" "c.1152G>A" "r.(?)" "p.(Met384Ile)" "?" "0000436991" "00025590" "95" "1152" "0" "1152" "0" "c.1152G>A" "r.(?)" "p.(Met384Ile)" "?" "0000436992" "00025590" "95" "1154" "0" "1154" "0" "c.1154A>G" "r.(?)" "p.(Asn385Ser)" "?" "0000436993" "00025590" "95" "1172" "0" "1172" "0" "c.1172A>C" "r.(?)" "p.(Asn391Thr)" "?" "0000436994" "00025590" "95" "1177" "0" "1177" "0" "c.1177T>G" "r.(?)" "p.(Trp393Gly)" "?" "0000436995" "00025590" "95" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.(Ala415Val)" "?" "0000436996" "00025590" "95" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(His423Tyr)" "?" "0000436997" "00025590" "95" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "?" "0000436998" "00025590" "97" "1280" "0" "1280" "0" "c.1280A>G" "r.(?)" "p.(His427Arg)" "?" "0000436999" "00025590" "95" "1297" "0" "1297" "0" "c.1297T>C" "r.(?)" "p.(Cys433Arg)" "?" "0000437000" "00025590" "95" "1301" "0" "1301" "0" "c.1301T>C" "r.(?)" "p.(Leu434Pro)" "?" "0000437001" "00025590" "95" "1311" "0" "1311" "0" "c.1311G>C" "r.(?)" "p.(Trp437Cys)" "?" "0000437002" "00025590" "95" "1314" "0" "1314" "0" "c.1314C>A" "r.(?)" "p.(Ser438Arg)" "?" "0000437003" "00025590" "95" "1343" "0" "1343" "0" "c.1343A>G" "r.(?)" "p.(Tyr448Cys)" "?" "0000437004" "00025590" "95" "1355" "0" "1355" "0" "c.1355T>C" "r.(?)" "p.(Leu452Pro)" "?" "0000437005" "00025590" "95" "1358" "0" "1358" "0" "c.1358C>A" "r.(?)" "p.(Ala453Asp)" "?" "0000437006" "00025590" "95" "1361" "0" "1361" "0" "c.1361C>T" "r.(?)" "p.(Ala454Val)" "?" "0000437007" "00025590" "95" "1373" "0" "1373" "0" "c.1373G>A" "r.(?)" "p.(Gly458Asp)" "?" "0000437008" "00025590" "95" "1394" "0" "1394" "0" "c.1394T>C" "r.(?)" "p.(Phe465Ser)" "?" "0000437009" "00025590" "95" "1406" "0" "1406" "0" "c.1406A>C" "r.(?)" "p.(Tyr469Ser)" "?" "0000437010" "00025590" "95" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476Trp)" "?" "0000437011" "00025590" "95" "1430" "0" "1430" "0" "c.1430C>T" "r.(?)" "p.(Pro477Leu)" "?" "0000437012" "00025590" "95" "1430" "0" "1430" "0" "c.1430C>T" "r.(?)" "p.(Pro477Leu)" "?" "0000437013" "00025590" "95" "1446" "0" "1446" "0" "c.1446C>A" "r.(?)" "p.(Phe482Leu)" "?" "0000437014" "00025590" "95" "1451" "0" "1451" "0" "c.1451C>A" "r.(?)" "p.(Ala484Glu)" "?" "0000437015" "00025590" "95" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Ala487Val)" "?" "0000437016" "00025590" "95" "1462" "0" "1462" "0" "c.1462A>G" "r.(?)" "p.(Thr488Ala)" "?" "0000437017" "00025590" "95" "1468" "0" "1468" "0" "c.1468T>A" "r.(?)" "p.(Tyr490Asn)" "?" "0000437018" "00025590" "95" "1486" "0" "1486" "0" "c.1486G>A" "r.(?)" "p.(Gly496Ser)" "?" "0000437019" "00025590" "95" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Cys)" "?" "0000437020" "00025590" "95" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Arg498His)" "?" "0000437021" "00025590" "95" "1493" "0" "1493" "0" "c.1493G>T" "r.(?)" "p.(Arg498Leu)" "?" "0000437022" "00025590" "95" "1548" "0" "1548" "0" "c.1548T>G" "r.(?)" "p.(His516Gln)" "?" "0000437023" "00025590" "95" "1550" "0" "1550" "0" "c.1550A>T" "r.(?)" "p.(Glu517Val)" "?" "0000437024" "00025590" "95" "1556" "0" "1556" "0" "c.1556A>G" "r.(?)" "p.(Tyr519Cys)" "?" "0000437025" "00025590" "95" "1565" "0" "1565" "0" "c.1565A>G" "r.(?)" "p.(Asn522Ser)" "?" "0000437026" "00025590" "97" "1575" "0" "1575" "0" "c.1575G>C" "r.(?)" "p.(Gln525His)" "?" "0000437027" "00025590" "95" "1603" "0" "1603" "0" "c.1603T>C" "r.(?)" "p.(Trp535Arg)" "?" "0000437028" "00025590" "95" "1603" "0" "1603" "0" "c.1603T>C" "r.(?)" "p.(Trp535Arg)" "?" "0000437029" "00025590" "95" "1615" "0" "1615" "0" "c.1615T>C" "r.(?)" "p.(Tyr539His)" "?" "0000437030" "00025590" "95" "1652" "0" "1652" "0" "c.1652T>C" "r.(?)" "p.(Leu551Pro)" "?" "0000437031" "00025590" "95" "1693" "0" "1693" "0" "c.1693G>T" "r.(?)" "p.(Asp565Tyr)" "?" "0000437032" "00025590" "95" "1734" "0" "1734" "0" "c.1734G>C" "r.(?)" "p.(Lys578Asn)" "?" "0000437033" "00025590" "95" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Gly579Ser)" "?" "0000437034" "00025590" "95" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602His)" "?" "0000437035" "00025590" "95" "1805" "0" "1805" "0" "c.1805G>C" "r.(?)" "p.(Arg602Pro)" "?" "0000544849" "00025590" "30" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Arg3His)" "" "0000544852" "00025590" "30" "106" "0" "107" "0" "c.106_107insCGCTGG" "r.(?)" "p.(Leu35_Val36insAlaLeu)" "" "0000544853" "00025590" "10" "106" "0" "107" "0" "c.106_107insCGCTGGCGC" "r.(?)" "p.(Val36delinsAlaLeuAlaLeu)" "" "0000544854" "00025590" "50" "106" "0" "107" "0" "c.106_107insCGCTGGCGCTGG" "r.(?)" "p.(Leu35_Val36insAlaLeuAlaLeu)" "" "0000544859" "00025590" "10" "108" "0" "109" "0" "c.108_109insGCG" "r.(?)" "p.(Val36_Leu37insAla)" "" "0000544863" "00025590" "30" "319" "-7" "319" "-7" "c.319-7A>T" "r.(=)" "p.(=)" "" "0000544864" "00025590" "50" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Met)" "" "0000544865" "00025590" "30" "564" "0" "564" "0" "c.564dup" "r.(?)" "p.(Lys189GlnfsTer4)" "" "0000544866" "00025590" "30" "574" "0" "574" "0" "c.574A>C" "r.(?)" "p.(Ser192Arg)" "" "0000544867" "00025590" "30" "575" "0" "575" "0" "c.575G>C" "r.(?)" "p.(Ser192Thr)" "" "0000544868" "00025590" "30" "575" "0" "575" "0" "c.575G>C" "r.(?)" "p.(Ser192Thr)" "" "0000544869" "00025590" "30" "583" "0" "583" "0" "c.583G>C" "r.(?)" "p.(Ala195Pro)" "" "0000544870" "00025590" "10" "636" "0" "636" "0" "c.636T>C" "r.(?)" "p.(Asp212=)" "" "0000544871" "00025590" "10" "719" "0" "719" "0" "c.719G>A" "r.(?)" "p.(Arg240Gln)" "" "0000544873" "00025590" "30" "813" "0" "813" "0" "c.813T>C" "r.(?)" "p.(Pro271=)" "" "0000544874" "00025590" "10" "813" "0" "813" "0" "c.813T>C" "r.(?)" "p.(Pro271=)" "" "0000544880" "00025590" "70" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(His321Tyr)" "" "0000544881" "00025590" "30" "995" "0" "995" "0" "c.995C>G" "r.(?)" "p.(Pro332Arg)" "" "0000544882" "00025590" "50" "1430" "0" "1430" "0" "c.1430C>T" "r.(?)" "p.(Pro477Leu)" "" "0000544884" "00025590" "30" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Ala487Val)" "" "0000544886" "00025590" "10" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000544887" "00025590" "50" "1534" "0" "1534" "0" "c.1534G>A" "r.(?)" "p.(Val512Met)" "" "0000544888" "00025590" "50" "1550" "0" "1550" "0" "c.1550A>T" "r.(?)" "p.(Glu517Val)" "" "0000544889" "00025590" "10" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Leu521=)" "" "0000544890" "00025590" "50" "1562" "0" "1562" "0" "c.1562T>G" "r.(?)" "p.(Leu521Arg)" "" "0000544891" "00025590" "30" "1589" "0" "1589" "0" "c.1589G>C" "r.(?)" "p.(Gly530Ala)" "" "0000544892" "00025590" "30" "1625" "0" "1625" "0" "c.1625G>A" "r.(?)" "p.(Arg542Gln)" "" "0000544893" "00025590" "50" "1681" "0" "1681" "0" "c.1681C>T" "r.(?)" "p.(Arg561Cys)" "" "0000544894" "00025590" "50" "1829" "0" "1831" "0" "c.1829_1831del" "r.(?)" "p.(Arg610del)" "" "0000613516" "00025590" "10" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Val36Ala)" "" "0000613517" "00025590" "10" "126" "0" "143" "0" "c.126_143del" "r.(?)" "p.(Ala44_Leu49del)" "" "0000613518" "00025590" "30" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Cys)" "" "0000613519" "00025590" "50" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230His)" "" "0000613520" "00025590" "30" "708" "0" "708" "0" "c.708G>A" "r.(?)" "p.(Pro236=)" "" "0000613523" "00025590" "30" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Val301Ile)" "" "0000613524" "00025590" "30" "1091" "13" "1091" "13" "c.1091+13C>T" "r.(=)" "p.(=)" "" "0000622665" "00025590" "30" "1264" "-14" "1264" "-14" "c.1264-14A>G" "r.(=)" "p.(=)" "" "0000648323" "00025590" "50" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Met)" "" "0000648324" "00025590" "50" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Arg291His)" "" "0000648325" "00025590" "90" "1624" "0" "1624" "0" "c.1624C>T" "r.(?)" "p.(Arg542*)" "" "0000648326" "00025590" "50" "1625" "0" "1625" "0" "c.1625G>A" "r.(?)" "p.(Arg542Gln)" "" "0000648327" "00025590" "50" "1749" "0" "1749" "0" "c.1749G>A" "r.(=)" "p.(=)" "" "0000648328" "00025590" "50" "1795" "0" "1795" "0" "c.1795C>A" "r.(?)" "p.(Leu599Ile)" "" "0000652988" "00025590" "90" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Gly244Arg)" "" "0000656834" "00025590" "50" "1675" "0" "1675" "0" "c.1675G>A" "r.(?)" "p.(Val559Ile)" "" "0000667196" "00025590" "90" "573" "0" "573" "0" "c.573del" "r.(?)" "p.(Ser192Alafs*65)" "" "0000669130" "00025590" "50" "1749" "0" "1749" "0" "c.1749G>A" "r.(=)" "p.(=)" "" "0000679246" "00025590" "30" "83" "0" "83" "0" "c.83C>T" "r.(?)" "p.(Pro28Leu)" "" "0000679248" "00025590" "30" "1340" "7" "1340" "7" "c.1340+7C>T" "r.(=)" "p.(=)" "" "0000679249" "00025590" "30" "1675" "0" "1675" "0" "c.1675G>A" "r.(?)" "p.(Val559Ile)" "" "0000691109" "00025590" "30" "107" "0" "124" "0" "c.107_124del" "r.(?)" "p.(Val36_Leu41del)" "" "0000691111" "00025590" "90" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Val314Met)" "" "0000691112" "00025590" "50" "1394" "0" "1394" "0" "c.1394T>C" "r.(?)" "p.(Phe465Ser)" "" "0000709045" "00025590" "70" "57" "0" "60" "0" "c.57_60dup" "r.(?)" "p.(Gln21Glyfs*32)" "1" "0000723547" "00025590" "10" "132" "0" "143" "0" "c.132_143del" "r.(?)" "p.(Ala46_Leu49del)" "" "0000723548" "00025590" "30" "138" "0" "143" "0" "c.138_143del" "r.(?)" "p.(Ala48_Leu49del)" "" "0000723550" "00025590" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Tyr442=)" "" "0000723551" "00025590" "50" "1550" "0" "1550" "0" "c.1550A>T" "r.(?)" "p.(Glu517Val)" "" "0000723552" "00025590" "50" "2836" "0" "2836" "0" "c.*940G>T" "r.(=)" "p.(=)" "" "0000760940" "00025590" "70" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "" "0000760941" "00025590" "90" "1413" "0" "1413" "0" "c.1413del" "r.(?)" "p.(Glu472Argfs*3)" "" "0000764795" "00025590" "90" "1111" "0" "1112" "0" "c.1111_1112del" "r.(?)" "p.(Leu371Phefs*19)" "3" "0000764810" "00025590" "70" "1513" "0" "1517" "0" "c.1513_1517delinsGCTCTCACGTGGTC" "r.(?)" "p.(Asn505_Tyr506delinsAlaLeuThrTrpSer)" "6" "0000764811" "00025590" "90" "1513" "0" "1525" "0" "c.1513_1525del" "r.(?)" "p.(Asn505Alafs*13)" "6" "0000805246" "00025590" "30" "107" "0" "112" "0" "c.107_112del" "r.(?)" "p.(Val36_Leu37del)" "" "0000853071" "00025590" "50" "533" "0" "533" "0" "c.533T>A" "r.(?)" "p.(Ile178Asn)" "" "0000853072" "00025590" "30" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Arg)" "" "0000862621" "00025590" "30" "591" "0" "591" "0" "c.591T>C" "r.(?)" "p.(Gly197=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 147 "{{screeningid}}" "{{variantid}}" "0000000004" "0000000251" "0000000011" "0000000244" "0000000013" "0000000258" "0000000017" "0000000266" "0000000018" "0000000267" "0000000020" "0000000253" "0000000023" "0000000256" "0000000023" "0000000269" "0000000023" "0000000270" "0000000030" "0000000237" "0000000034" "0000000239" "0000000035" "0000000240" "0000000036" "0000000242" "0000000037" "0000000243" "0000000038" "0000000248" "0000000042" "0000000254" "0000000045" "0000000259" "0000000046" "0000000260" "0000000058" "0000000234" "0000000060" "0000000235" "0000000061" "0000000250" "0000000064" "0000000241" "0000000065" "0000000265" "0000000067" "0000000233" "0000000071" "0000000247" "0000000072" "0000000255" "0000000073" "0000000257" "0000000080" "0000000264" "0000000080" "0000000268" "0000000081" "0000000246" "0000000084" "0000000249" "0000000089" "0000000252" "0000000091" "0000000262" "0000000092" "0000000263" "0000000093" "0000000238" "0000000094" "0000000245" "0000000095" "0000000261" "0000029770" "0000055843" "0000207293" "0000436942" "0000207294" "0000436943" "0000207295" "0000436944" "0000207296" "0000436945" "0000207297" "0000436946" "0000207298" "0000436947" "0000207299" "0000436948" "0000207300" "0000436949" "0000207301" "0000436950" "0000207302" "0000436951" "0000207303" "0000436952" "0000207304" "0000436953" "0000207305" "0000436954" "0000207306" "0000436955" "0000207307" "0000436956" "0000207308" "0000436957" "0000207309" "0000436958" "0000207310" "0000436959" "0000207311" "0000436960" "0000207312" "0000436961" "0000207313" "0000436962" "0000207314" "0000436963" "0000207315" "0000436964" "0000207316" "0000436965" "0000207317" "0000436966" "0000207318" "0000436967" "0000207319" "0000436968" "0000207320" "0000436969" "0000207321" "0000436970" "0000207322" "0000436971" "0000207323" "0000436972" "0000207324" "0000436973" "0000207325" "0000436974" "0000207326" "0000436975" "0000207327" "0000436976" "0000207328" "0000436977" "0000207329" "0000436978" "0000207330" "0000436979" "0000207331" "0000436980" "0000207332" "0000436981" "0000207333" "0000436982" "0000207334" "0000436983" "0000207335" "0000436984" "0000207336" "0000436985" "0000207337" "0000436986" "0000207338" "0000436987" "0000207339" "0000436988" "0000207340" "0000436989" "0000207341" "0000436990" "0000207342" "0000436991" "0000207343" "0000436992" "0000207344" "0000436993" "0000207345" "0000436994" "0000207346" "0000436995" "0000207347" "0000436996" "0000207348" "0000436997" "0000207349" "0000436998" "0000207350" "0000436999" "0000207351" "0000437000" "0000207352" "0000437001" "0000207353" "0000437002" "0000207354" "0000437003" "0000207355" "0000437004" "0000207356" "0000437005" "0000207357" "0000437006" "0000207358" "0000437007" "0000207359" "0000437008" "0000207360" "0000437009" "0000207361" "0000437010" "0000207362" "0000437011" "0000207363" "0000437012" "0000207364" "0000437013" "0000207365" "0000437014" "0000207366" "0000437015" "0000207367" "0000437016" "0000207368" "0000437017" "0000207369" "0000437018" "0000207370" "0000437019" "0000207371" "0000437020" "0000207372" "0000437021" "0000207373" "0000437022" "0000207374" "0000437023" "0000207375" "0000437024" "0000207376" "0000437025" "0000207377" "0000437026" "0000207378" "0000437027" "0000207379" "0000437028" "0000207380" "0000437029" "0000207381" "0000437030" "0000207382" "0000437031" "0000207383" "0000437032" "0000207384" "0000437033" "0000207385" "0000437034" "0000207386" "0000437035" "0000291634" "0000648323" "0000291635" "0000648324" "0000291636" "0000648325" "0000291637" "0000648326" "0000291638" "0000648327" "0000291639" "0000648328" "0000296299" "0000652988" "0000303801" "0000667196" "0000305442" "0000669130" "0000325897" "0000709045" "0000360835" "0000760940" "0000360835" "0000760941" "0000364043" "0000764795" "0000364056" "0000764810" "0000364057" "0000764811"