### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMN1) # 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}}" "SMN1" "survival of motor neuron 1, telomeric" "5" "q13.2" "unknown" "NG_008691.1" "UD_132118528369" "" "http://www.LOVD.nl/SMN1" "" "1" "11117" "6606" "600354" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "http://databases.lovd.nl/shared/refseq/SMN1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00002" "2006-04-20 00:00:00" "00006" "2017-08-09 10:37:48" "00000" "2023-01-11 15:44:22" ## 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}}" "00000174" "SMN1" "survival of motor neuron 1, telomeric, transcript variant d" "001" "NM_000344.3" "" "NP_000335.1" "" "" "" "-163" "1462" "885" "70220768" "70248839" "00002" "2012-05-11 13:12:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00499" "SMA1" "atrophy, muscular, spinal, type 1 (SMA-1, Werdnig-Hoffman disease, severe infantile acute)" "AR" "253300" "" "" "" "00006" "2014-08-14 20:55:29" "00006" "2021-12-10 21:51:32" "00500" "SMA2" "atrophy, muscular, spinal, type II (SMA-2, infantile, chronic)" "AR" "253550" "" "" "" "00006" "2014-08-14 20:56:38" "00006" "2021-12-10 21:51:32" "00501" "SMA3" "atrophy, muscular, spinal, type III (SMA-3, juvenile, Wohlfart-Kugelberg-Welander disease)" "AR" "253400" "" "" "" "00006" "2014-08-14 20:57:26" "00006" "2021-12-10 21:51:32" "00502" "SMA4" "atrophy, muscular, spinal, type IV (SMA-4, adult)" "AR" "271150" "" "" "" "00006" "2014-08-14 20:58:47" "00006" "2021-12-10 21:51:32" "00639" "cancer, lung" "cancer, lung (adenocarcinoma)" "" "211980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SMN1" "00499" "SMN1" "00500" "SMN1" "00501" "SMN1" "00502" ## Individuals ## Do not remove or alter this header ## ## Count = 133 "{{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}}" "00000037" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00116707" "" "" "" "1" "" "00006" "{PMID:Parsons 1998:9837824}" "" "" "" "United States" "" "0" "" "" "" "" "00116708" "" "" "" "2" "" "00006" "{PMID:Parsons 1998:9837824}" "2 unrelated patients" "" "" "United States" "" "0" "" "" "" "" "00116709" "" "" "" "1" "" "02203" "" "" "F" "no" "(China)" "" "0" "" "" "chinese" "" "00116710" "" "" "" "165" "" "00400" "" "165 unrelated families Portugal" "M" "" "Portugal" "" "0" "" "" "" "" "00116711" "" "" "" "1" "" "00006" "{PMID:Ogino 2004:14711346}" "" "" "" "" "" "0" "" "" "" "" "00116712" "" "" "" "1" "" "00006" "{PMID:Gambardella 1998:9818944}" "del NAIP exon 5" "M" "" "Italy" "" "0" "" "" "" "" "00116713" "" "" "" "1" "" "00006" "{PMID:Parsons 1998:9837824}" "" "" "" "United States" "" "0" "" "" "" "" "00116714" "" "" "" "1" "" "00006" "{PMID:Hahnen 1997:9158159}" "" "" "" "Germany" "" "0" "" "" "" "" "00116715" "" "" "" "2" "" "00006" "{PMID:Hahnen 1997:9158159}" "" "" "" "Germany" "" "0" "" "" "" "" "00116716" "" "" "" "1" "" "00006" "{PMID:Hahnen 1997:9158159}" "" "" "" "Australia" "" "0" "" "" "" "" "00116717" "" "" "" "1" "" "00006" "{PMID:Lefebvre 1995:7813012}" "" "" "" "France" "" "0" "" "" "" "" "00116718" "" "" "" "1" "" "00006" "{PMID:Lorson 1999:10339583}" "" "" "" "United States" "" "0" "" "" "" "" "00116719" "" "" "" "1" "" "00006" "{PMID:Sossi 2001:11313744}" "" "F" "" "Italy" "" "0" "" "" "" "" "00116720" "" "" "" "1" "" "00006" "{PMID:Sossi 2001:11313744}" "" "M" "" "Italy" "" "0" "" "" "" "" "00116721" "" "" "" "1" "" "00006" "{PMID:Sossi 2001:11313744}" "" "F" "" "Italy" "" "0" "" "" "" "" "00116722" "" "" "" "1" "" "00006" "{PMID:Bussaglia 1995:7581461}, {PMID:Cusco 2003:12872254}" "" "" "" "Spain" "" "0" "" "" "" "" "00116723" "" "" "" "3" "" "00006" "{PMID:Bussaglia 1995:7581461}, {PMID:Cusco 2003:12872254}" "3 patients (1 early onset)" "" "" "Spain" "" "0" "" "" "" "" "00116724" "" "" "" "8" "" "00006" "{PMID:Bussaglia 1995:7581461}, {PMID:Cusco 2003:12872254}" "8 patients (2 early onset)" "" "" "Spain" "" "0" "" "" "" "" "00116725" "" "" "" "2" "" "00006" "{PMID:Bussaglia 1995:7581461}, {PMID:Cusco 2003:12872254}" "2 patients" "F" "" "Spain" "" "0" "" "" "" "" "00116726" "" "" "" "1" "" "00006" "{PMID:Sun 2005:15580564}" "" "" "" "Germany" "" "0" "" "" "" "" "00116727" "" "" "" "1" "" "00006" "{PMID:Sun 2005:15580564}" "" "" "" "Germany" "" "0" "" "" "" "" "00116728" "" "" "" "1" "" "00006" "{PMID:Sun 2005:15580564}" "" "" "" "Germany" "" "0" "" "" "" "" "00116729" "" "" "" "1" "" "00006" "{PMID:Sun 2005:15580564}" "" "" "" "Germany" "" "0" "" "" "" "" "00116730" "" "" "" "1" "" "00006" "{PMID:Sun 2005:15580564}" "" "" "" "Germany" "" "0" "" "" "" "" "00116731" "" "" "" "1" "" "00006" "{PMID:Cusco 2004:15249625}" "" "" "" "Spain" "" "0" "" "" "" "" "00116732" "" "" "" "1" "" "00006" "{PMID:Cusco 2004:15249625}" "" "" "" "Spain" "" "0" "" "" "" "" "00116733" "" "" "" "1" "" "00400" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00116734" "" "" "" "1" "" "00400" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00116735" "" "" "" "11" "" "00400" "" "11 unrelated patients" "" "" "Portugal" "" "0" "" "" "" "" "00116736" "" "" "" "1" "" "00006" "{PMID:Ogino 2004:14711346}" "" "" "" "" "" "0" "" "" "" "" "00116737" "" "" "" "1" "" "00006" "{PMID:Ogino 2004:14711346}" "" "" "" "" "" "0" "" "" "" "" "00116738" "" "" "" "1" "" "00006" "{PMID:Wirth 1999:10205265}" "" "" "" "" "" "0" "" "" "" "" "00116739" "" "" "" "1" "" "00006" "{PMID:Wirth 1999:10205265}" "" "" "" "" "" "0" "" "" "" "" "00116740" "" "" "" "1" "" "00006" "{PMID:Tsai 2001:11574104}" "" "" "" "" "" "0" "" "" "" "" "00116741" "" "" "" "3" "" "00006" "{PMID:Martin 2002:11935338}" "3 unrelated cases" "" "" "" "" "0" "" "" "" "" "00116742" "" "" "" "1" "" "00006" "Clermont 1997, {PMID:Wirth 2000:10679938}" "" "" "" "" "" "0" "" "" "" "" "00116743" "" "" "" "1" "" "00006" "{PMID:Brahe 1996:8968751}" "" "" "" "" "" "0" "" "" "" "" "00116744" "" "" "" "2" "" "00006" "{PMID:Wirth 1999:10205265}" "2 unrelated cases" "" "" "" "" "0" "" "" "" "" "00116745" "" "" "" "3" "" "00006" "{PMID:Parsons 1998:9719377}, {PMID:Parsons 1998:9837824}" "3 unrelated cases" "" "" "" "" "0" "" "" "" "" "00116746" "" "" "" "1" "" "00006" "{PMID:Wirth 1999:10205265}" "" "" "" "" "" "0" "" "" "" "" "00116747" "" "" "" "1" "" "00006" "Clermont 1997, {PMID:Wirth 2000:10679938}" "" "" "" "" "" "0" "" "" "" "" "00116748" "" "" "" "2" "" "00006" "{PMID:Wirth 1999:10205265}" "2 unrelated cases" "" "" "" "" "0" "" "" "" "" "00116749" "" "" "" "1" "" "00006" "{PMID:Tsai 2001:11574104}" "" "" "" "" "" "0" "" "" "" "" "00116750" "" "" "" "1" "" "00006" "{PMID:Rochette 1997:10732817}" "" "" "" "" "" "0" "" "" "" "" "00116751" "" "" "" "1" "" "00006" "{PMID:Martin 2002:11935338}" "" "" "" "" "" "0" "" "" "" "" "00116752" "" "" "" "7" "" "00006" "Clermont 1997, {PMID:Martin 2002:11935338}, {PMID:Parsons 1996:8922999}, {PMID:Wirth 2000:10679938}" "7 unrelated cases" "" "" "" "" "0" "" "" "" "" "00116753" "" "" "" "1" "" "00006" "{PMID:McAndrew 1997:9199562}" "" "" "" "" "" "0" "" "" "" "" "00116754" "" "" "" "2" "" "00006" "{PMID:Skordis 2001:11379882}" "2 unrelated cases" "" "" "" "" "0" "" "" "" "" "00116755" "" "" "" "8" "" "00006" "{PMID:Rochette 1997:10732817}, {PMID:Wirth 2000:10679938}, {PMID:Wirth 1999:10205265}" "8 unrelated cases" "" "" "" "" "0" "" "" "" "" "00116756" "" "" "" "2" "" "00006" "{PMID:Hahnen 1997:9158159}, {PMID:Parsons 1998:9837824}, {PMID:Wirth 1999:10205265}" "2 unrelated cases" "" "" "" "" "0" "" "" "" "" "00116757" "" "" "" "1" "" "00006" "{PMID:Skordis 2001:11379882}" "" "" "" "" "" "0" "" "" "" "" "00116758" "" "" "" "1" "" "00006" "{PMID:Martin 2002:11935338}" "" "" "" "" "" "0" "" "" "" "" "00116759" "" "" "" "1" "" "00006" "{PMID:Lefebvre 1995:7813012}, {PMID:Wirth 2000:10679938}" "" "" "" "" "" "0" "" "" "" "" "00116760" "" "" "" "2" "" "00006" "{PMID:Wang 1998:10732802}" "2 unrelated cases" "" "" "" "" "0" "" "" "" "" "00116761" "" "" "" "1" "" "00006" "{PMID:Talbot 1997:9147655}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00116762" "" "" "" "1" "" "00006" "{PMID:Wirth 1999:10205265}" "" "" "" "" "" "0" "" "" "" "" "00116763" "" "" "" "1" "" "00006" "{PMID:Bai 2014:25014214}" "" "M" "" "China" "" "0" "" "" "" "" "00116764" "" "" "" "1" "" "00006" "{PMID:Bai 2014:25014214}" "" "M" "" "China" "" "0" "" "" "" "" "00116765" "" "" "" "1" "" "00006" "{PMID:Bai 2014:25014214}" "" "F" "" "China" "" "0" "" "" "" "" "00116766" "" "" "" "1" "" "00006" "{PMID:Bai 2014:25014214}" "" "F" "" "China" "" "0" "" "" "" "" "00116767" "" "" "" "1" "" "00006" "{PMID:Bai 2014:25014214}" "" "F" "" "China" "" "0" "" "" "" "" "00116768" "" "" "" "1" "" "00006" "{PMID:Bai 2014:25014214}" "" "F" "" "China" "" "0" "" "" "" "" "00116769" "" "" "" "1" "" "00006" "{PMID:Bai 2014:25014214}" "" "M" "" "China" "" "0" "" "" "" "" "00116770" "" "" "" "1" "" "00006" "{PMID:Bai 2014:25014214}" "" "M" "" "China" "" "0" "" "" "" "" "00116771" "" "" "" "1" "" "00006" "{PMID:Bai 2014:25014214}" "" "M" "" "China" "" "0" "" "" "" "" "00116772" "" "" "" "1" "" "02204" "{PMID:Yamamoto 2013:24359787}" "" "M" "no" "Japan" "" "0" "" "" "Japanese" "" "00116773" "" "" "" "1" "" "02204" "{PMID:Kotani 2007:17415510}, {PMID:Yamamoto 2013:24359787}" "" "F" "" "Japan" "" "0" "" "" "" "" "00116774" "" "" "" "1" "" "02204" "{PMID:Kotani 2007:17415510}, {PMID:Yamamoto 2013:24359787}" "" "M" "" "Japan" "" "0" "" "" "" "" "00116775" "" "" "" "1" "" "02204" "{PMID:Yamamoto 2013:24359787}" "" "M" "" "Japan" ">19y" "0" "" "" "" "" "00116776" "" "" "" "1" "" "02204" "{PMID:Yamamoto 2013:24359787}" "" "F" "" "Japan" ">7y" "0" "" "" "" "" "00116777" "" "" "" "1" "" "02204" "{PMID:Yamamoto 2013:24359787}" "" "F" "" "Japan" ">19y" "0" "" "" "" "" "00116778" "" "" "" "1" "" "02203" "" "" "M" "" "China" "" "0" "" "" "chinese" "" "00116779" "" "" "" "1" "" "02203" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00116780" "" "" "" "1" "" "02203" "" "" "M" "" "China" "" "0" "" "" "chinese" "" "00116781" "" "" "" "2" "" "02202" "" "The proband has a heterozygous deletion of SMN1 inherited from his father. His single copy of SMN1 contains an inserted Alu element of the Yb8 family, inherited from his mother." "M" "no" "United Arab Emirates" "" "0" "" "" "" "" "00116782" "" "" "" "1" "" "02203" "" "" "F" "-" "China" "<4m" "0" "" "" "chinese" "" "00116783" "" "" "" "1" "" "00400" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00116784" "" "" "" "1" "" "02203" "" "" "M" "no" "China" "" "0" "" "" "chinese" "" "00116785" "" "" "" "5" "" "00006" "{PMID:Ogino 2002:11992267}" "5 unrelated affecteds" "" "" "" "" "0" "" "" "" "" "00116786" "" "" "" "1" "" "02203" "" "" "M" "" "China" "" "0" "" "" "chinese" "" "00116787" "" "" "" "1" "" "00505" "" "" "M" "" "France" "" "0" "" "" "" "" "00116788" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00116789" "" "" "" "1" "" "02203" "" "" "F" "" "(China)" "" "0" "" "" "" "" "00116790" "" "" "" "1" "" "02203" "" "" "F" "no" "(China)" "" "0" "" "" "" "" "00116791" "" "" "" "1" "" "02203" "" "" "M" "no" "(China)" "20d" "0" "" "" "" "" "00116792" "" "" "" "1" "" "00006" "{PMID:Wirth 2000:10679938}" "" "" "" "" "" "0" "" "" "" "" "00116793" "" "" "" "1" "" "00006" "{PMID:Lefebvre 1995:7813012}" "" "" "" "" "" "0" "" "" "" "" "00116794" "" "" "" "1" "" "00006" "{PMID:Gambardella 1998:9818944}" "del NAIP exon 5" "M" "" "Italy" "" "0" "" "" "" "" "00116795" "" "" "" "1" "" "00006" "" "difference between mRNA and genomic sequence in GenBank" "" "" "" "" "0" "" "" "" "" "00116796" "" "" "" "3" "" "00006" "{PMID:Kirwin 2013:24498607}" "5-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "24498607" "00150115" "" "" "" "1" "" "02365" "" "" "M" "no" "Spain" "" "0" "" "" "white" "" "00150116" "" "" "" "1" "" "02365" "" "" "M" "" "" "" "0" "" "" "" "" "00150120" "" "" "" "1" "" "02365" "" "" "" "" "" "" "0" "" "" "" "" "00168061" "" "" "" "1" "" "02502" "" "" "F" "no" "Greece" "00y13m" "0" "" "" "white" "" "00168071" "" "" "" "1" "" "02502" "" "" "F" "" "Greece" "" "0" "" "" "" "" "00168072" "" "" "" "2" "" "02502" "" "" "M" "no" "Greece" "" "0" "" "" "" "" "00168073" "" "" "" "2" "" "02502" "" "" "F" "no" "Greece" "" "0" "" "" "" "" "00168074" "" "" "" "1" "" "02502" "" "" "M" "no" "Greece" "" "0" "" "" "" "" "00234342" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00234355" "" "" "" "1" "" "00006" "{PMID:Prior 2009:19716110}" "" "F" "no" "United States" "" "0" "" "" "" "Pat1" "00234356" "" "" "" "1" "" "00006" "{PMID:Prior 2009:19716110}" "" "F" "" "United States" "" "0" "" "" "" "Pat2" "00234360" "" "" "" "1" "" "00006" "{PMID:Prior 2009:19716110}" "" "M" "" "United States" "" "0" "" "" "" "Pat3" "00275685" "" "" "" "1" "" "03553" "" "" "M" "no" "Serbia" "" "0" "" "" "Serbian" "WH1049" "00305907" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "23" "00359637" "" "" "" "1" "" "00006" "{PMID:Xia 2021:33777091}" "" "M" "no" "China" "" "0" "" "" "" "FamPatII2" "00404919" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam1" "00404920" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam2" "00404921" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam3" "00404922" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam4" "00404923" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam5" "00404968" "" "" "" "7" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404969" "" "" "" "3" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404970" "" "" "" "7" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404971" "" "" "" "3" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404972" "" "" "" "4" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404973" "" "" "" "143" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404974" "" "" "" "19" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404975" "" "" "" "5" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404976" "" "" "" "2" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404977" "" "" "" "30" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404978" "" "" "" "22" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404979" "" "" "" "4" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404980" "" "" "" "2" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404981" "" "" "" "8" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404982" "" "" "" "15" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00404983" "" "" "" "10" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "" "00411195" "" "" "" "1" "" "00006" "{PMID:Bai 2022:35615378}" "4-generation family, 1 affected, unaffected heterozygous parents, 2 unaffected males carrying DMD variant" "F;M" "no" "China" "" "0" "" "" "" "Fam1PatIV2" "00413127" "" "" "" "1" "" "00006" "{PMID:Cerino 2022:35741838}" "analysis 82 myopathy patients" "" "" "Chile" "" "0" "" "" "" "P70/Myo135" "00413128" "" "" "" "1" "" "00006" "{PMID:Cerino 2022:35741838}" "analysis 82 myopathy patients" "" "" "Chile" "" "0" "" "" "" "P71/Myo138" "00417844" "" "" "" "1" "" "01164" "" "" "F" "no" "Italy" "" "0" "" "" "" "206520" "00426987" "" "" "" "1" "" "00006" "{PMID:Reiner 2022:36459106}" "carrier screening 73,755 controls" "" "" "United States" "" "0" "" "" "" "" "00426988" "" "" "" "1" "" "00006" "{PMID:Reiner 2022:36459106}" "carrier screening 73,755 controls" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 133 "{{individualid}}" "{{diseaseid}}" "00116707" "00500" "00116708" "00501" "00116709" "00501" "00116710" "05123" "00116711" "05123" "00116712" "00501" "00116713" "00499" "00116714" "00500" "00116715" "00501" "00116716" "00501" "00116717" "00499" "00116718" "00501" "00116719" "00499" "00116720" "00500" "00116721" "00501" "00116722" "00499" "00116723" "00500" "00116724" "00501" "00116725" "00502" "00116726" "00500" "00116727" "00501" "00116728" "00501" "00116729" "05123" "00116730" "00501" "00116731" "00499" "00116732" "00499" "00116733" "05123" "00116734" "05123" "00116735" "05123" "00116736" "00000" "00116737" "00000" "00116738" "00501" "00116739" "00501" "00116740" "05123" "00116741" "05123" "00116742" "00499" "00116743" "00499" "00116744" "05123" "00116745" "05123" "00116746" "00500" "00116747" "00499" "00116748" "00499" "00116749" "05123" "00116750" "00501" "00116751" "00501" "00116752" "05123" "00116753" "00501" "00116754" "00500" "00116755" "05123" "00116756" "05123" "00116757" "00501" "00116758" "00499" "00116759" "00499" "00116760" "05123" "00116761" "00499" "00116762" "00499" "00116763" "00501" "00116764" "00499" "00116765" "00500" "00116766" "00499" "00116767" "00500" "00116768" "00499" "00116769" "00500" "00116770" "00500" "00116771" "00499" "00116772" "00501" "00116773" "00499" "00116774" "00499" "00116775" "00499" "00116776" "00500" "00116777" "00501" "00116778" "00501" "00116779" "00501" "00116780" "00500" "00116781" "00499" "00116782" "00499" "00116783" "00499" "00116784" "00499" "00116785" "00000" "00116786" "00499" "00116787" "00502" "00116788" "00000" "00116789" "00500" "00116790" "00499" "00116791" "00499" "00116792" "00500" "00116793" "00500" "00116794" "00500" "00116795" "00000" "00116796" "05123" "00150115" "00500" "00150116" "00499" "00150120" "00000" "00168061" "00499" "00168061" "00639" "00168071" "00500" "00168072" "00500" "00168073" "00501" "00168074" "00501" "00234342" "00500" "00234355" "05123" "00234356" "05123" "00234360" "05123" "00275685" "00499" "00305907" "00499" "00359637" "00198" "00404919" "05123" "00404920" "05123" "00404921" "05123" "00404922" "05123" "00404923" "05123" "00404968" "05123" "00404969" "05123" "00404970" "05123" "00404971" "05123" "00404972" "05123" "00404973" "05123" "00404974" "05123" "00404975" "05123" "00404976" "05123" "00404977" "05123" "00404978" "05123" "00404979" "05123" "00404980" "05123" "00404981" "05123" "00404982" "05123" "00404983" "05123" "00411195" "05123" "00413127" "00244" "00413128" "00244" "00417844" "00499" "00426987" "00000" "00426988" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00244, 00499, 00500, 00501, 00502, 00639, 05123 ## Count = 125 "{{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/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000092186" "00500" "00116707" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092187" "00501" "00116708" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092188" "00501" "00116709" "02203" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092189" "05123" "00116710" "00400" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092190" "05123" "00116711" "00006" "Unknown" "" "SMA 1, 2, 3" "" "" "" "" "" "" "" "" "" "" "" "" "0000092191" "00501" "00116712" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092192" "00499" "00116713" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092193" "00500" "00116714" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092194" "00501" "00116715" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092195" "00501" "00116716" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092196" "00499" "00116717" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092197" "00501" "00116718" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092198" "00499" "00116719" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092199" "00500" "00116720" "00006" "Unknown" "" "WB smaller SMN1" "" "" "" "" "" "" "" "" "" "" "" "" "0000092200" "00501" "00116721" "00006" "Unknown" "" "WB smaller SMN1" "" "" "" "" "" "" "" "" "" "" "" "" "0000092201" "00499" "00116722" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092202" "00500" "00116723" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092203" "00501" "00116724" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092204" "00502" "00116725" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092205" "00500" "00116726" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092206" "00501" "00116727" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092207" "00501" "00116728" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092208" "05123" "00116729" "00006" "Unknown" "" "SMA 1/2" "" "" "" "" "" "" "" "" "" "" "" "" "0000092209" "00501" "00116730" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092210" "00499" "00116731" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092211" "00499" "00116732" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092212" "05123" "00116733" "00400" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092213" "05123" "00116734" "00400" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092214" "05123" "00116735" "00400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092215" "00000" "00116736" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092216" "00000" "00116737" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092217" "00501" "00116738" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092218" "00501" "00116739" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092219" "05123" "00116740" "00006" "Unknown" "" "SMA 1 or 2" "" "" "" "" "" "" "" "" "" "" "" "" "0000092220" "05123" "00116741" "00006" "Unknown" "" "SMA 1, 2, 3" "" "" "" "" "" "" "" "" "" "" "" "" "0000092221" "00499" "00116742" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092222" "00499" "00116743" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092223" "05123" "00116744" "00006" "Unknown" "" "SMA 1, 3" "" "" "" "" "" "" "" "" "" "" "" "" "0000092224" "05123" "00116745" "00006" "Unknown" "" "SMA 1, 2, 3" "" "" "" "" "" "" "" "" "" "" "" "" "0000092225" "00500" "00116746" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092226" "00499" "00116747" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092227" "00499" "00116748" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092228" "05123" "00116749" "00006" "Unknown" "" "SMA 1 or 2" "" "" "" "" "" "" "" "" "" "" "" "" "0000092229" "00501" "00116750" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092230" "00501" "00116751" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092231" "05123" "00116752" "00006" "Unknown" "" "SMA 1, 2" "" "" "" "" "" "" "" "" "" "" "" "" "0000092232" "00501" "00116753" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092233" "00500" "00116754" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092234" "05123" "00116755" "00006" "Unknown" "" "SMA 1, 2, 3" "" "" "" "" "" "" "" "" "" "" "" "" "0000092235" "05123" "00116756" "00006" "Unknown" "" "SMA 2, 3" "" "" "" "" "" "" "" "" "" "" "" "" "0000092236" "00501" "00116757" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092237" "00499" "00116758" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092238" "00499" "00116759" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092239" "05123" "00116760" "00006" "Unknown" "" "SMA 2, 3" "" "" "" "" "" "" "" "" "" "" "" "" "0000092240" "00499" "00116761" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092241" "00499" "00116762" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092242" "00501" "00116763" "00006" "Unknown" "" "" "2y6m" "" "" "" "" "" "" "" "" "" "" "" "0000092243" "00499" "00116764" "00006" "Unknown" "" "EMG nerve damage" "4m" "" "" "" "" "" "" "" "" "" "" "" "0000092244" "00500" "00116765" "00006" "Unknown" "" "EMG nerve damage" "4m" "" "" "" "" "" "" "" "" "" "" "" "0000092245" "00499" "00116766" "00006" "Unknown" "" "EMG nerve damage" "3m" "" "" "" "" "" "" "" "" "" "" "" "0000092246" "00500" "00116767" "00006" "Unknown" "" "EMG nerve damage" "1y1m" "" "" "" "" "" "" "" "" "" "" "" "0000092247" "00499" "00116768" "00006" "Unknown" "" "EMG nerve damage" "5m" "" "" "" "" "" "" "" "" "" "" "" "0000092248" "00500" "00116769" "00006" "Unknown" "" "EMG nerve damage" "1y3m" "" "" "" "" "" "" "" "" "" "" "" "0000092249" "00500" "00116770" "00006" "Unknown" "" "EMG nerve damage" "10m" "" "" "" "" "" "" "" "" "" "" "" "0000092250" "00499" "00116771" "00006" "Unknown" "" "EMG nerve damage" "1y" "" "" "" "" "" "" "" "" "" "" "" "0000092251" "00501" "00116772" "02204" "Familial, autosomal recessive" "" "11y-pain/heaviness in legs during exercise; later developed symptoms including waddling gait, muscle weakness and atrophy in quadriceps, attenuated\r\npatellar tendon reflex; able to walk" "11y" "13y" "type 3" "" "" "" "" "" "" "" "" "" "0000092252" "00499" "00116773" "02204" "Isolated (sporadic)" "" "" "5m" "" "" "" "" "" "" "" "" "" "" "" "0000092253" "00499" "00116774" "02204" "Isolated (sporadic)" "" "" "6m" "" "" "" "" "" "" "" "" "" "" "" "0000092254" "00499" "00116775" "02204" "Isolated (sporadic)" "" "referred for respiratory insufficiency and difficulties swallowing" "0m" "" "" "" "" "" "" "" "" "" "" "" "0000092255" "00500" "00116776" "02204" "Isolated (sporadic)" "" "first diagnosed as SMA type 2/3, sit unaided and stand while holding onto something, at 2y rapidly lost these abilities; 3y-bound to artificial ventilator (respiratory insufficiency)" "1y" "" "" "" "" "" "" "" "" "" "" "" "0000092256" "00501" "00116777" "02204" "Isolated (sporadic)" "" "13y-muscle weakness during swimming exercise; gradually lost running ability, could no longer run as fast as classmates in high school days" "13y" "" "" "" "" "" "" "" "" "" "" "" "0000092257" "00501" "00116778" "02203" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092258" "00501" "00116779" "02203" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092259" "00500" "00116780" "02203" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092260" "00499" "00116781" "02202" "Familial, autosomal recessive" "" "microcephaly, lagophthalmos, exposure keratopathy, optic disc pallor, cerebral atrophy, small optic nerves, progressive cerebral volume loss" "1d" "15m" "" "" "" "" "" "" "" "" "" "" "0000092261" "00499" "00116782" "02203" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092262" "00499" "00116783" "00400" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092263" "00499" "00116784" "02203" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092264" "00000" "00116785" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092265" "00499" "00116786" "02203" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092266" "00502" "00116787" "00505" "Unknown" "" "type IV" "" "" "" "" "" "" "" "" "" "" "" "" "0000092267" "00000" "00116788" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092268" "00500" "00116789" "02203" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092269" "00499" "00116790" "02203" "Familial, autosomal recessive" "" "" "5m" "" "" "" "" "" "" "" "" "" "" "" "0000092270" "00499" "00116791" "02203" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092271" "00500" "00116792" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092272" "00500" "00116793" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092273" "00500" "00116794" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092274" "00000" "00116795" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092275" "05123" "00116796" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000122516" "00500" "00150115" "02365" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000122517" "00499" "00150116" "02365" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000132925" "00499" "00168061" "02502" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000132936" "00501" "00168074" "02502" "Familial, autosomal recessive" "" "8y deterioration in specific muscle groups" "03y" "" "" "" "" "" "" "" "" "" "" "" "0000135696" "00500" "00168071" "02502" "Familial, autosomal recessive" "" "5.5y-respiratory support and gastrostomy" "00y11m" "" "proximal spinal muscular atrophy (HP:0006959)" "" "" "" "" "" "" "" "" "" "0000174773" "05123" "00234355" "00006" "Familial, autosomal recessive" "42y" "see paper; ..., normal early motor milestones, walking on toes, slow in grade school activities, often uses hand assist going up and down steps; high school slight weakness hips; disease declared itself in early 20s (falling); very slight levoscoliosis; SMA type IIIb" "" "" "" "" "" "" "" "" "" "SMA-3" "spinal muscular atrophy" "" "0000174775" "05123" "00234356" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., early motor milestones normal (9m-crawl, 15m-stand with support, 18m-walk; 2–3 years gait unsteady, hold on to furniture while waking; 5-6y assisted ambulation; 12y-wheelchair dependent; 14y-scoliosis surgery" "03y" "" "" "" "" "" "" "" "" "SMA-3" "spinal muscular atrophy" "" "0000174778" "05123" "00234360" "00006" "Familial, autosomal recessive" "29y" "see paper; ..., SMA-IIIb" "" "" "" "" "" "" "" "" "" "SMA-3" "spinal muscular atrophy" "" "0000231755" "00499" "00305907" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000254910" "00198" "00359637" "00006" "Complex" "00y11m" "see paper; ..., gradually progressive poor motor development, muscle weakness" "" "" "" "" "" "" "" "" "" "DMD;SMA" "" "" "0000297477" "05123" "00404919" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "" "0000297478" "05123" "00404920" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "" "0000297479" "05123" "00404921" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "" "0000297480" "05123" "00404922" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "" "0000297481" "05123" "00404923" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "" "0000297526" "05123" "00404968" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297527" "05123" "00404969" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297528" "05123" "00404970" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297529" "05123" "00404971" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297530" "05123" "00404972" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297531" "05123" "00404973" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297532" "05123" "00404974" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297533" "05123" "00404975" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297534" "05123" "00404976" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297535" "05123" "00404977" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297536" "05123" "00404978" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297537" "05123" "00404979" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297538" "05123" "00404980" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297539" "05123" "00404981" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297540" "05123" "00404982" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000297541" "05123" "00404983" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "SMA" "spinal muscular atrophy" "" "0000303270" "05123" "00411195" "00006" "Familial, autosomal recessive" "" "see paper; ..., spinal muscular atrophy" "" "" "" "" "" "" "" "" "" "SMA1" "spinal muscular atrophy" "" "0000305108" "00244" "00413127" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "SMA3" "LGMD" "" "0000305109" "00244" "00413128" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "SMA3" "limb-girdle muscular weakness" "" "0000309212" "00499" "00417844" "01164" "Unknown" "" "Generalized hypotonia, Respiratory insufficiency, Increased variability in muscle fiber diameter, Abnormal muscle fiber protein expression" "" "" "" "" "" "" "" "" "" "" "01y05mo" "" ## Screenings ## Do not remove or alter this header ## ## Count = 134 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000037" "00000037" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000117167" "00116707" "1" "00006" "00006" "2006-03-05 16:35:01" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117168" "00116708" "1" "00006" "00006" "2006-03-05 16:35:01" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117169" "00116709" "1" "02203" "02203" "2015-12-14 04:14:34" "00006" "2015-12-16 02:22:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000117170" "00116710" "1" "00400" "00400" "2006-09-17 10:20:43" "00006" "2012-03-09 18:27:00" "SEQ" "DNA" "" "" "0000117171" "00116711" "1" "00006" "00006" "2006-03-01 19:00:33" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117172" "00116712" "1" "00006" "00006" "2006-03-01 19:00:29" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117173" "00116713" "1" "00006" "00006" "2006-03-05 16:14:27" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117174" "00116714" "1" "00006" "00006" "2006-03-05 16:18:14" "00006" "2012-03-09 19:03:40" "SEQ" "DNA" "" "" "0000117175" "00116715" "1" "00006" "00006" "2006-03-05 16:21:16" "00006" "2012-03-09 19:03:40" "SEQ" "DNA" "" "" "0000117176" "00116716" "1" "00006" "00006" "2006-03-01 19:00:18" "00006" "2012-03-09 19:03:40" "SEQ" "DNA" "" "" "0000117177" "00116717" "1" "00006" "00006" "2006-03-05 16:25:57" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117178" "00116718" "1" "00006" "00006" "2006-03-05 16:43:10" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117179" "00116719" "1" "00006" "00006" "2006-03-05 16:49:13" "00006" "2013-02-01 19:44:13" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000117180" "00116720" "1" "00006" "00006" "2006-03-01 19:00:06" "00006" "2013-02-01 19:44:13" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000117181" "00116721" "1" "00006" "00006" "2006-03-05 16:54:46" "00006" "2013-02-01 19:44:13" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000117182" "00116722" "1" "00006" "00006" "2006-03-05 16:58:52" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117183" "00116723" "1" "00006" "00006" "2006-03-05 17:01:33" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117184" "00116724" "1" "00006" "00006" "2006-03-05 17:02:46" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117185" "00116725" "1" "00006" "00006" "2006-03-05 17:03:18" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117186" "00116726" "1" "00006" "00006" "2006-03-05 17:08:18" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117187" "00116727" "1" "00006" "00006" "2006-03-05 17:10:21" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117188" "00116728" "1" "00006" "00006" "2006-03-05 17:11:56" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117189" "00116729" "1" "00006" "00006" "2006-03-05 17:14:35" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117190" "00116730" "1" "00006" "00006" "2006-03-05 17:16:08" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117191" "00116731" "1" "00006" "00006" "2006-03-05 17:19:56" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117192" "00116732" "1" "00006" "00006" "2006-03-05 17:22:40" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117193" "00116733" "1" "00400" "00400" "2006-09-17 10:11:12" "00006" "2012-03-09 18:27:00" "SEQ" "DNA" "" "" "0000117194" "00116734" "1" "00400" "00400" "2006-09-17 10:11:12" "00006" "2012-03-09 18:27:00" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000117195" "00116735" "1" "00400" "00400" "2006-09-17 10:11:12" "00006" "2013-02-01 19:44:13" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000117196" "00116736" "1" "00006" "00006" "2006-03-01 19:00:33" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117197" "00116737" "1" "00006" "00006" "2006-03-01 19:00:33" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117198" "00116738" "1" "00006" "00006" "2006-03-01 19:00:28" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117199" "00116739" "1" "00006" "00006" "2006-03-01 19:00:05" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117200" "00116740" "1" "00006" "00006" "2006-03-01 19:00:01" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117201" "00116741" "1" "00006" "00006" "2006-03-01 19:00:07" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117202" "00116742" "1" "00006" "00006" "2006-03-01 19:00:08" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117203" "00116743" "1" "00006" "00006" "2006-03-01 19:00:09" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117204" "00116744" "1" "00006" "00006" "2006-03-01 19:00:02" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117205" "00116745" "1" "00006" "00006" "2006-03-01 19:00:10" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117206" "00116746" "1" "00006" "00006" "2006-03-01 19:00:11" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117207" "00116747" "1" "00006" "00006" "2006-03-01 19:00:12" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117208" "00116748" "1" "00006" "00006" "2006-03-01 19:00:13" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117209" "00116749" "1" "00006" "00006" "2006-03-01 19:00:14" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117210" "00116750" "1" "00006" "00006" "2006-03-01 19:00:15" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117211" "00116751" "1" "00006" "00006" "2006-03-01 19:00:16" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117212" "00116752" "1" "00006" "00006" "2006-03-01 19:00:17" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117213" "00116753" "1" "00006" "00006" "2006-03-01 19:00:19" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117214" "00116754" "1" "00006" "00006" "2006-03-01 19:00:03" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117215" "00116755" "1" "00006" "00006" "2006-03-01 19:00:20" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117216" "00116756" "1" "00006" "00006" "2006-03-01 19:00:21" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117217" "00116757" "1" "00006" "00006" "2006-03-01 19:00:22" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117218" "00116758" "1" "00006" "00006" "2006-03-01 19:00:23" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117219" "00116759" "1" "00006" "00006" "2006-03-01 19:00:24" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117220" "00116760" "1" "00006" "00006" "2006-03-01 19:00:25" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117221" "00116761" "1" "00006" "00006" "2006-03-01 19:00:26" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000117222" "00116762" "1" "00006" "00006" "2006-03-01 19:00:04" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117223" "00116763" "1" "00006" "00006" "2014-08-14 22:06:39" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000117224" "00116764" "1" "00006" "00006" "2014-08-14 22:06:39" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000117225" "00116765" "1" "00006" "00006" "2014-08-14 22:06:39" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000117226" "00116766" "1" "00006" "00006" "2014-08-14 22:06:39" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000117227" "00116767" "1" "00006" "00006" "2014-08-14 22:06:39" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000117228" "00116768" "1" "00006" "00006" "2014-08-14 22:06:39" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000117229" "00116769" "1" "00006" "00006" "2014-08-14 22:06:39" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000117230" "00116770" "1" "00006" "00006" "2014-08-14 22:06:39" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000117231" "00116771" "1" "00006" "00006" "2014-08-14 22:06:39" "" "" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" "" "0000117232" "00116772" "1" "02204" "02204" "2014-11-11 14:47:43" "00006" "2014-11-12 21:12:59" "PCRq" "DNA" "" "" "0000117233" "00116773" "1" "02204" "02204" "2014-11-12 20:49:56" "" "" "PCRq" "DNA" "" "" "0000117234" "00116774" "1" "02204" "02204" "2014-11-12 20:54:28" "" "" "PCRq" "DNA" "" "" "0000117235" "00116775" "1" "02204" "02204" "2014-11-12 21:02:49" "00006" "2014-11-12 21:03:04" "PCRq" "DNA" "" "" "0000117236" "00116776" "1" "02204" "02204" "2014-11-12 21:09:46" "" "" "PCRq" "DNA" "" "" "0000117237" "00116777" "1" "02204" "02204" "2014-11-12 21:20:44" "" "" "PCRq" "DNA" "" "" "0000117238" "00116778" "1" "02203" "02203" "2015-12-14 04:20:31" "00006" "2015-12-16 02:17:08" "SEQ" "DNA" "" "" "0000117239" "00116779" "1" "02203" "02203" "2015-12-14 03:49:19" "00006" "2015-12-16 01:54:56" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000117240" "00116780" "1" "02203" "02203" "2015-12-14 03:58:40" "00006" "2015-12-16 02:09:42" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000117241" "00116781" "1" "02202" "02202" "2016-01-12 14:48:29" "00006" "2016-01-14 16:03:03" "SEQ" "DNA" "" "" "0000117242" "00116782" "1" "02203" "02203" "2015-12-14 04:38:42" "00006" "2015-12-16 02:16:44" "SEQ" "DNA" "" "" "0000117243" "00116783" "1" "00400" "00400" "2006-09-17 10:11:12" "00006" "2012-03-09 19:02:29" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000117244" "00116784" "1" "02203" "02203" "2015-12-14 04:44:53" "00006" "2015-12-16 02:22:58" "SEQ" "DNA" "" "" "0000117245" "00116785" "1" "00006" "00006" "2006-03-01 19:00:33" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117246" "00116786" "1" "02203" "02203" "2015-12-14 04:49:44" "00006" "2015-12-16 02:16:20" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000117247" "00116787" "1" "00505" "00505" "2011-04-08 16:40:43" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117248" "00116788" "1" "00006" "00006" "2009-08-28 13:31:10" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117249" "00116789" "1" "02203" "02203" "2015-06-06 23:59:11" "" "" "RT-PCR" "DNA;RNA" "" "" "0000117250" "00116790" "1" "02203" "02203" "2015-06-07 00:04:45" "" "" "SEQ" "DNA;RNA" "" "" "0000117251" "00116791" "1" "02203" "02203" "2015-06-07 00:24:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000117252" "00116792" "1" "00006" "00006" "2006-03-01 19:00:27" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117253" "00116793" "1" "00006" "00006" "2006-03-01 19:00:27" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117254" "00116794" "1" "00006" "00006" "2006-03-01 19:00:29" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117255" "00116795" "1" "00006" "00006" "2006-03-01 19:00:31" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000117256" "00116796" "1" "00006" "00006" "2017-08-09 13:33:52" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000150970" "00150115" "1" "02365" "02365" "2018-01-11 13:10:07" "" "" "PCR" "DNA" "peripheral blood" "" "0000150971" "00150116" "1" "02365" "02365" "2018-01-11 13:45:00" "" "" "SEQ" "DNA" "" "" "0000150975" "00150120" "1" "02365" "02365" "2018-01-11 14:14:22" "" "" "SEQ" "DNA" "" "" "0000168932" "00168061" "1" "02502" "02502" "2018-07-18 19:39:20" "02502" "2018-07-20 13:30:44" "MLPA;SEQ" "DNA" "" "" "0000168944" "00168071" "1" "02502" "02502" "2018-07-19 22:18:10" "" "" "MLPA;SEQ" "DNA" "" "" "0000168945" "00168072" "1" "02502" "02502" "2018-07-20 00:04:17" "" "" "MLPA;SEQ" "DNA" "" "" "0000168946" "00168073" "1" "02502" "02502" "2018-07-20 00:17:03" "" "" "MLPA;SEQ" "DNA" "" "" "0000168947" "00168074" "1" "02502" "02502" "2018-07-20 00:33:35" "" "" "SEQ" "DNA" "" "" "0000235444" "00234342" "1" "01741" "01741" "2019-05-09 12:38:41" "" "" "SEQ" "DNA" "" "" "0000235455" "00234342" "1" "00006" "00006" "2019-05-10 11:03:11" "" "" "MLPA" "DNA" "" "" "0000235457" "00234355" "1" "00006" "00006" "2019-05-10 11:18:34" "00006" "2019-05-10 11:33:20" "PCRq;SEQ" "DNA" "" "" "0000235458" "00234356" "1" "00006" "00006" "2019-05-10 11:38:20" "" "" "PCR;SEQ" "DNA" "" "" "0000235462" "00234360" "1" "00006" "00006" "2019-05-10 11:47:56" "" "" "PCR;SEQ" "DNA" "" "" "0000276842" "00275685" "1" "03553" "03553" "2020-01-14 12:51:34" "" "" "SEQ" "RNA" "blood" "" "0000312530" "00305907" "1" "03695" "03695" "2020-09-23 10:49:57" "" "" "SEQ-NG-H" "DNA" "" "" "0000360867" "00359637" "1" "00006" "00006" "2021-04-03 15:16:08" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000406157" "00404919" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ" "DNA" "" "" "0000406158" "00404920" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ" "DNA" "" "" "0000406159" "00404921" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ" "DNA" "" "" "0000406160" "00404922" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ" "DNA" "" "" "0000406161" "00404923" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ" "DNA" "" "" "0000406206" "00404968" "1" "00006" "00006" "2022-03-11 14:37:46" "" "" "MLPA;SEQ" "DNA" "" "" "0000406207" "00404969" "1" "00006" "00006" "2022-03-11 14:46:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000406208" "00404970" "1" "00006" "00006" "2022-03-11 14:56:34" "" "" "MLPA;SEQ" "DNA" "" "" "0000406209" "00404971" "1" "00006" "00006" "2022-03-11 15:23:04" "" "" "MLPA;SEQ" "DNA" "" "" "0000406210" "00404972" "1" "00006" "00006" "2022-03-11 15:24:43" "" "" "MLPA;SEQ" "DNA" "" "" "0000406211" "00404973" "1" "00006" "00006" "2022-03-11 15:26:07" "" "" "MLPA;SEQ" "DNA" "" "" "0000406212" "00404974" "1" "00006" "00006" "2022-03-11 15:27:38" "" "" "MLPA;SEQ" "DNA" "" "" "0000406213" "00404975" "1" "00006" "00006" "2022-03-11 15:32:48" "" "" "MLPA;SEQ" "DNA" "" "" "0000406214" "00404976" "1" "00006" "00006" "2022-03-11 15:37:14" "" "" "MLPA;SEQ" "DNA" "" "" "0000406215" "00404977" "1" "00006" "00006" "2022-03-11 15:38:18" "" "" "MLPA;SEQ" "DNA" "" "" "0000406216" "00404978" "1" "00006" "00006" "2022-03-11 15:39:40" "" "" "MLPA;SEQ" "DNA" "" "" "0000406217" "00404979" "1" "00006" "00006" "2022-03-11 15:40:14" "" "" "MLPA;SEQ" "DNA" "" "" "0000406218" "00404980" "1" "00006" "00006" "2022-03-11 15:42:44" "" "" "MLPA;SEQ" "DNA" "" "" "0000406219" "00404981" "1" "00006" "00006" "2022-03-11 15:43:54" "" "" "MLPA;SEQ" "DNA" "" "" "0000406220" "00404982" "1" "00006" "00006" "2022-03-11 15:45:00" "" "" "MLPA;SEQ" "DNA" "" "" "0000406221" "00404983" "1" "00006" "00006" "2022-03-11 15:46:34" "" "" "MLPA;SEQ" "DNA" "" "" "0000412460" "00411195" "1" "00006" "00006" "2022-06-06 21:41:18" "" "" "MLPA;SEQ;SEQ-ON;SEQ-PB" "DNA" "" "" "0000414397" "00413127" "1" "00006" "00006" "2022-07-11 16:33:01" "00006" "2022-07-11 16:39:43" "MLPA;SEQ;SEQ-NG" "DNA" "" "gene panel" "0000414398" "00413128" "1" "00006" "00006" "2022-07-11 16:33:01" "00006" "2022-07-11 16:40:04" "MLPA;SEQ;SEQ-NG" "DNA" "" "gene panel" "0000419139" "00417844" "1" "01164" "01164" "2022-09-26 13:23:11" "" "" "SEQ-NG-I" "DNA" "" "" "0000428307" "00426987" "1" "00006" "00006" "2022-12-04 11:25:02" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428308" "00426988" "1" "00006" "00006" "2022-12-04 11:25:02" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 179 "{{screeningid}}" "{{geneid}}" "0000000037" "ATM" "0000000037" "ATP7B" "0000000037" "DPYD" "0000000037" "ETFB" "0000000037" "HEXB" "0000000037" "NHLRC1" "0000000037" "NPHS1" "0000000037" "SBDS" "0000000037" "SLC26A2" "0000000037" "SLC3A1" "0000000037" "SMN1" "0000000037" "SMPD1" "0000117167" "SMN1" "0000117168" "SMN1" "0000117169" "SMN1" "0000117170" "SMN1" "0000117171" "SMN1" "0000117172" "SMN1" "0000117173" "SMN1" "0000117174" "SMN1" "0000117175" "SMN1" "0000117176" "SMN1" "0000117177" "SMN1" "0000117178" "SMN1" "0000117179" "SMN1" "0000117180" "SMN1" "0000117181" "SMN1" "0000117182" "SMN1" "0000117183" "SMN1" "0000117184" "SMN1" "0000117185" "SMN1" "0000117186" "SMN1" "0000117187" "SMN1" "0000117188" "SMN1" "0000117189" "SMN1" "0000117190" "SMN1" "0000117191" "SMN1" "0000117192" "SMN1" "0000117193" "SMN1" "0000117194" "SMN1" "0000117195" "SMN1" "0000117196" "SMN1" "0000117197" "SMN1" "0000117198" "SMN1" "0000117199" "SMN1" "0000117200" "SMN1" "0000117201" "SMN1" "0000117202" "SMN1" "0000117203" "SMN1" "0000117204" "SMN1" "0000117205" "SMN1" "0000117206" "SMN1" "0000117207" "SMN1" "0000117208" "SMN1" "0000117209" "SMN1" "0000117210" "SMN1" "0000117211" "SMN1" "0000117212" "SMN1" "0000117213" "SMN1" "0000117214" "SMN1" "0000117215" "SMN1" "0000117216" "SMN1" "0000117217" "SMN1" "0000117218" "SMN1" "0000117219" "SMN1" "0000117220" "SMN1" "0000117221" "SMN1" "0000117222" "SMN1" "0000117223" "SMN1" "0000117224" "SMN1" "0000117225" "SMN1" "0000117226" "SMN1" "0000117227" "SMN1" "0000117228" "SMN1" "0000117229" "SMN1" "0000117230" "SMN1" "0000117231" "SMN1" "0000117232" "SMN1" "0000117233" "SMN1" "0000117234" "SMN1" "0000117235" "SMN1" "0000117236" "SMN1" "0000117237" "SMN1" "0000117238" "SMN1" "0000117239" "SMN1" "0000117240" "SMN1" "0000117241" "SMN1" "0000117242" "SMN1" "0000117243" "SMN1" "0000117244" "SMN1" "0000117245" "SMN1" "0000117246" "SMN1" "0000117247" "SMN1" "0000117248" "SMN1" "0000117249" "SMN1" "0000117250" "SMN1" "0000117251" "SMN1" "0000117252" "SMN1" "0000117253" "SMN1" "0000117254" "SMN1" "0000117255" "SMN1" "0000117256" "SMN1" "0000150970" "SMN1" "0000150971" "SMN1" "0000150975" "SMN1" "0000168932" "SMN1" "0000168944" "SMN1" "0000168945" "SMN1" "0000168946" "SMN1" "0000168947" "SMN1" "0000235444" "SMN1" "0000235455" "SMN1" "0000235455" "SMN2" "0000235457" "SMN1" "0000235457" "SMN2" "0000235458" "SMN1" "0000235458" "SMN2" "0000235462" "SMN1" "0000235462" "SMN2" "0000276842" "SMN1" "0000312530" "SMN1" "0000360867" "DMD" "0000360867" "SMN1" "0000406157" "SMN1" "0000406158" "SMN1" "0000406159" "SMN1" "0000406160" "SMN1" "0000406161" "SMN1" "0000406206" "NAIP" "0000406206" "SMN1" "0000406206" "SMN2" "0000406207" "NAIP" "0000406207" "SMN1" "0000406207" "SMN2" "0000406208" "NAIP" "0000406208" "SMN1" "0000406208" "SMN2" "0000406209" "NAIP" "0000406209" "SMN1" "0000406209" "SMN2" "0000406210" "NAIP" "0000406210" "SMN1" "0000406210" "SMN2" "0000406211" "NAIP" "0000406211" "SMN1" "0000406211" "SMN2" "0000406212" "NAIP" "0000406212" "SMN1" "0000406212" "SMN2" "0000406213" "NAIP" "0000406213" "SMN1" "0000406213" "SMN2" "0000406214" "NAIP" "0000406214" "SMN1" "0000406214" "SMN2" "0000406215" "NAIP" "0000406215" "SMN1" "0000406215" "SMN2" "0000406216" "NAIP" "0000406216" "SMN1" "0000406216" "SMN2" "0000406217" "NAIP" "0000406217" "SMN1" "0000406217" "SMN2" "0000406218" "NAIP" "0000406218" "SMN1" "0000406218" "SMN2" "0000406219" "NAIP" "0000406219" "SMN1" "0000406219" "SMN2" "0000406220" "NAIP" "0000406220" "SMN1" "0000406220" "SMN2" "0000406221" "NAIP" "0000406221" "SMN1" "0000406221" "SMN2" "0000412460" "DMD" "0000412460" "SMN1" "0000419139" "SMN1" ## 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 = 222 "{{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}}" "0000001092" "0" "90" "5" "70241892" "70247822" "del" "0" "00002" "SMN1_000050" "g.(70240581_70241892)_(70247822_70248265)del" "" "{PMID:Bell 2011:21228398}" "" "del ex7-8" "" "Germline" "" "" "0" "" "" "9.(70944754_70946065)_(70951995_70952438)del" "" "pathogenic" "" "0000187945" "1" "90" "5" "70220917" "70220917" "subst" "0.150859" "00006" "SMN1_000038" "g.70220917C>T" "" "{PMID:Parsons 1998:9837824}, {OMIM600354:0006}" "" "" "" "Germline" "" "" "0" "" "" "g.70925090C>T" "" "pathogenic" "" "0000187946" "1" "90" "5" "70220917" "70220917" "subst" "0.150859" "00006" "SMN1_000038" "g.70220917C>T" "" "{PMID:Parsons 1998:9837824}, {OMIM600354:0006}" "" "" "" "Germline" "" "" "0" "" "" "g.70925090C>T" "" "pathogenic" "" "0000187947" "21" "90" "5" "70220924" "70220939" "del" "0" "02203" "SMN1_000059" "g.70220924_70220939del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70925097_70925112del" "" "pathogenic" "" "0000187948" "1" "99" "5" "70220768" "70248837" "" "0" "00400" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187949" "2" "99" "5" "70220768" "70248837" "" "0" "00400" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187950" "1" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Ogino 2004:14711346}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187951" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Ogino 2004:14711346}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187952" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Gambardella 1998:9818944}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187953" "11" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Parsons 1998:9837824}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187954" "11" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Hahnen 1997:9158159}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187955" "11" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Hahnen 1997:9158159}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187956" "21" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Hahnen 1997:9158159}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187957" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Lefebvre 1995:7813012}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187958" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Parsons 1998:9837824}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187959" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Lorson 1999:10339583}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187960" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Sossi 2001:11313744}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187961" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Sossi 2001:11313744}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187962" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Sossi 2001:11313744}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187963" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Bussaglia 1995:7581461}, {PMID:Cusco 2003:12872254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187964" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Bussaglia 1995:7581461}, {PMID:Cusco 2003:12872254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187965" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Bussaglia 1995:7581461}, {PMID:Cusco 2003:12872254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187966" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Bussaglia 1995:7581461}, {PMID:Cusco 2003:12872254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187967" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Sun 2005:15580564}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187968" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Sun 2005:15580564}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187969" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Sun 2005:15580564}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187970" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Sun 2005:15580564}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187971" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Sun 2005:15580564}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187972" "11" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Cusco 2004:15249625}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187973" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Cusco 2004:15249625}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187974" "2" "99" "5" "70220768" "70248837" "" "0" "00400" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187975" "2" "99" "5" "70220768" "70248837" "" "0" "00400" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187976" "1" "99" "5" "70220768" "70248837" "" "0" "00400" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187977" "1" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Ogino 2004:14711346}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187978" "1" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Ogino 2004:14711346}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187979" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Wirth 1999:10205265}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187980" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Wirth 1999:10205265}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187981" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Tsai 2001:11574104}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187982" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Martin 2002:11935338}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187983" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "Clermont 1997, {PMID:Wirth 2000:10679938}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187984" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Brahe 1996:8968751}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187985" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Wirth 1999:10205265}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187986" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Parsons 1998:9719377}, {PMID:Parsons 1998:9837824}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187987" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Wirth 1999:10205265}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187988" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "Clermont 1997, {PMID:Wirth 2000:10679938}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187989" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Parsons 1998:9837824}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187990" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Wirth 1999:10205265}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187991" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Tsai 2001:11574104}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187992" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Rochette 1997:10732817}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187993" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Martin 2002:11935338}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187994" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "Clermont 1997, {PMID:Martin 2002:11935338}, {PMID:Parsons 1996:8922999}, {PMID:Wirth 2000:10679938}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187995" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:McAndrew 1997:9199562}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187996" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Skordis 2001:11379882}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187997" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Rochette 1997:10732817}, {PMID:Wirth 2000:10679938}, {PMID:Wirth 1999:10205265}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187998" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Hahnen 1997:9158159}, {PMID:Parsons 1998:9837824}, {PMID:Wirth 1999:10205265}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000187999" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Skordis 2001:11379882}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000188000" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Martin 2002:11935338}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000188001" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Lefebvre 1995:7813012}, {PMID:Wirth 2000:10679938}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000188002" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Wang 1998:10732802}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000188003" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Talbot 1997:9147655}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000188004" "2" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Wirth 1999:10205265}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000188005" "21" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Bai 2014:25014214}" "" "1 copy SMN1" "2 copies SMN2 gene" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000188006" "21" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Bai 2014:25014214}" "" "1 copy SMN1" "2 copies SMN2 gene" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000188007" "21" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Bai 2014:25014214}" "" "1 copy SMN1" "3 copies SMN2 gene" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000188008" "21" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Bai 2014:25014214}" "" "1 copy SMN1" "2 copies SMN2 gene" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000188009" "21" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Bai 2014:25014214}" "" "1 copy SMN1" "3 copies SMN2 gene" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000188010" "11" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Bai 2014:25014214}" "" "1 copy SMN1" "2 copies SMN2 gene" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000188011" "21" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Bai 2014:25014214}" "" "1 copy SMN1" "3 copies SMN2 gene" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000188012" "21" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Bai 2014:25014214}" "" "1 copy SMN1" "3 copies SMN2 gene" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000188013" "21" "99" "5" "70220768" "70248837" "" "0" "00006" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Bai 2014:25014214}" "" "1 copy SMN1" "2 copies SMN2 gene" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000188014" "1" "99" "5" "70220768" "70248837" "" "0" "02204" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Yamamoto 2013:24359787}" "" "" "1 copy SMN2" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000188015" "2" "99" "5" "70220768" "70248837" "" "0" "02204" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Kotani 2007:17415510}, {PMID:Yamamoto 2013:24359787}" "" "" "3 copies SMN2" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000188016" "1" "99" "5" "70220768" "70248837" "" "0" "02204" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Kotani 2007:17415510}, {PMID:Yamamoto 2013:24359787}" "" "" "3 copies SMN2" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000188017" "1" "99" "5" "70220768" "70248837" "" "0" "02204" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Yamamoto 2013:24359787}" "" "" "SMN2 2 copies" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000188018" "1" "99" "5" "70220768" "70248837" "" "0" "02204" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Yamamoto 2013:24359787}" "" "" "SMN2 1 copy" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000188019" "1" "99" "5" "70220768" "70248837" "" "0" "02204" "SMN1_000036" "g.(?_70220768)_(70248837_?)del" "" "{PMID:Yamamoto 2013:24359787}" "" "" "SMN2 1 copy" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000188020" "1" "90" "5" "70220935" "70220935" "subst" "0" "00006" "SMN1_000001" "g.70220935C>G" "" "{PMID:Parsons 1998:9837824}, {OMIM600354:0006}" "" "38C>G" "" "Germline" "" "" "0" "" "" "g.70925108C>G" "" "pathogenic" "" "0000188021" "1" "90" "5" "70220935" "70220935" "subst" "0" "00006" "SMN1_000001" "g.70220935C>G" "" "{PMID:Parsons 1998:9837824}, {OMIM600354:0006}" "" "38C>G" "founder mutation likely" "Germline" "" "" "0" "" "" "g.70925108C>G" "" "pathogenic" "" "0000188022" "11" "50" "5" "70220935" "70220935" "subst" "0" "00006" "SMN1_000001" "g.70220935C>G" "" "{PMID:Bai 2014:25014214}" "" "" "normal level SMN1 RNA" "Germline" "yes" "" "0" "" "" "g.70925108C>G" "" "VUS" "" "0000188023" "2" "90" "5" "70220935" "70220935" "subst" "0" "02204" "SMN1_000053" "g.70220935C>T" "" "{PMID:Yamamoto 2013:24359787}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70925108C>T" "" "pathogenic" "" "0000188024" "2" "90" "5" "70220935" "70220935" "subst" "0" "02204" "SMN1_000053" "g.70220935C>T" "" "{PMID:Yamamoto 2013:24359787}" "" "" "" "Unknown" "" "" "0" "" "" "g.70925108C>T" "" "pathogenic" "" "0000188025" "1" "90" "5" "70220952" "70220952" "dup" "0" "00006" "SMN1_000002" "g.70220952dup" "" "{PMID:Tsai 2001:11574104}" "" "" "" "Germline" "" "" "0" "" "" "g.70925125dup" "" "pathogenic" "" "0000188026" "11" "90" "5" "70220952" "70220952" "dup" "0" "00006" "SMN1_000002" "g.70220952dup" "" "{PMID:Bai 2014:25014214}" "" "22_23insA" "significantly reduced level SMN1 RNA" "Germline" "yes" "" "0" "" "" "g.70925125dup" "" "pathogenic" "" "0000188027" "11" "90" "5" "70220952" "70220952" "dup" "0" "00006" "SMN1_000002" "g.70220952dup" "" "{PMID:Bai 2014:25014214}" "" "22_23insA" "significantly reduced level SMN1 RNA" "Germline" "yes" "" "0" "" "" "g.70925125dup" "" "pathogenic" "" "0000188028" "11" "90" "5" "70220952" "70220952" "dup" "0" "00006" "SMN1_000002" "g.70220952dup" "" "{PMID:Bai 2014:25014214}" "" "22_23insA" "significantly reduced level SMN1 RNA" "Germline" "yes" "" "0" "" "" "g.70925125dup" "" "pathogenic" "" "0000188029" "11" "90" "5" "70220952" "70220952" "dup" "0" "00006" "SMN1_000002" "g.70220952dup" "" "{PMID:Bai 2014:25014214}" "" "22_23insA" "significantly reduced level SMN1 RNA" "Germline" "yes" "" "0" "" "" "g.70925125dup" "" "pathogenic" "" "0000188030" "21" "90" "5" "70220970" "70220970" "subst" "0" "00006" "SMN1_000051" "g.70220970G>T" "" "{PMID:Bai 2014:25014214}" "" "" "not found in 300 control chromosomes" "Germline" "yes" "" "0" "" "" "g.70925143G>T" "" "pathogenic" "" "0000188031" "1" "90" "5" "70220973" "70220973" "subst" "0" "00006" "SMN1_000003" "g.70220973C>T" "" "{PMID:Wirth 1999:10205265}" "" "78C>T" "" "Germline" "" "" "0" "" "" "g.70925146C>T" "" "pathogenic" "" "0000188032" "11" "90" "5" "70220973" "70220973" "subst" "0" "00006" "SMN1_000003" "g.70220973C>T" "" "{PMID:Bai 2014:25014214}" "" "" "significantly reduced level SMN1 RNA" "Germline" "yes" "" "0" "" "" "g.70925146C>T" "" "pathogenic" "" "0000188033" "11" "90" "5" "70220986" "70220986" "del" "0" "00006" "SMN1_000052" "g.70220986del" "" "{PMID:Bai 2014:25014214}" "" "" "significantly reduced level SMN1 RNA" "Germline" "yes" "" "0" "" "" "g.70925159del" "" "pathogenic" "" "0000188034" "1" "90" "5" "70221012" "70221012" "dup" "0" "00006" "SMN1_000004" "g.70221012dupG" "" "{PMID:Skordis 2001:11379882}" "" "Q27insG" "" "Germline" "" "" "0" "" "" "g.70925185dupG" "" "pathogenic" "" "0000188035" "1" "90" "5" "70234672" "70234672" "subst" "0" "00006" "SMN1_000039" "g.70234672G>A" "" "{PMID:Sun 2005:15580564}, {OMIM600354:0012}" "" "" "" "Germline" "" "" "0" "" "" "g.70938845G>A" "" "pathogenic" "" "0000188036" "1" "90" "5" "70234675" "70234675" "dup" "0" "00006" "SMN1_000005" "g.70234675dup" "" "{PMID:Wirth 1999:10205265}" "" "124insT" "" "Germline" "" "" "0" "" "" "g.70938848dup" "" "pathogenic" "" "0000188037" "1" "90" "5" "70234715" "70234715" "subst" "0" "00006" "SMN1_000040" "g.70234715A>T" "" "{PMID:Sun 2005:15580564}, {OMIM600354:0013}" "" "" "" "Germline" "" "" "0" "" "" "g.70938888A>T" "" "pathogenic" "" "0000188038" "1" "90" "5" "70237270" "70237271" "ins" "0" "00006" "SMN1_000006" "g.70237270_70237271insGTGT" "" "{PMID:Wirth 1999:10205265}" "" "241-242ins4" "" "Germline" "" "" "0" "" "" "g.70941443_70941444insGTGT" "" "pathogenic" "" "0000188039" "1" "90" "5" "70238186" "70238186" "subst" "0" "02204" "SMN1_000054" "g.70238186G>C" "" "{PMID:Yamamoto 2013:24359787}" "" "" "" "Unknown" "" "" "0" "" "" "g.70942359G>C" "" "pathogenic" "" "0000188040" "2" "90" "5" "70238186" "70238186" "subst" "0" "02204" "SMN1_000054" "g.70238186G>C" "" "{PMID:Yamamoto 2013:24359787}" "" "" "" "Unknown" "" "" "0" "" "" "g.70942359G>C" "" "pathogenic" "" "0000188041" "1" "90" "5" "70238194" "70238194" "subst" "0" "00006" "SMN1_000041" "g.70238194G>C" "" "{PMID:Sun 2005:15580564}, {OMIM600354:0014}" "" "" "" "Germline" "" "" "0" "" "" "g.70942367G>C" "" "pathogenic" "" "0000188042" "1" "90" "5" "70238216" "70238216" "subst" "0" "00006" "SMN1_000007" "g.70238216G>A" "" "{PMID:Sossi 2001:11313744}, {OMIM600354:0010}" "" "Trp102X" "" "Germline" "" "" "0" "" "" "g.70942389G>A" "" "pathogenic" "" "0000188043" "1" "90" "5" "70238216" "70238216" "subst" "0" "00006" "SMN1_000007" "g.70238216G>A" "" "{PMID:Sossi 2001:11313744}, {OMIM600354:0010}" "" "Trp102X" "" "Germline" "" "" "0" "" "" "g.70942389G>A" "" "pathogenic" "" "0000188044" "0" "70" "5" "70238237" "70238237" "subst" "0" "02203" "SMN1_000060" "g.70238237A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70942410A>G" "" "likely pathogenic" "" "0000188045" "1" "90" "5" "70238243" "70238243" "subst" "0" "00006" "SMN1_000042" "g.70238243C>G" "" "{PMID:Sun 2005:15580564}, {OMIM600354:0015}" "" "" "" "Germline" "" "" "0" "" "" "g.70942416C>G" "" "pathogenic" "" "0000188046" "21" "90" "5" "70238257" "70238257" "subst" "0" "00006" "SMN1_000044" "g.70238257A>T" "" "{PMID:Cusco 2004:15249625}, {OMIM600354:0017}" "" "" "" "Germline" "" "" "0" "" "" "g.70942430A>T" "" "pathogenic" "" "0000188047" "1" "90" "5" "70238310" "70238313" "del" "0" "00006" "SMN1_000008" "g.70238310_70238313del" "" "{PMID:Bussaglia 1995:7581461}, {PMID:Cusco 2003:12872254}, {OMIM600354:0011}" "" "430del4" "" "Germline" "" "" "0" "" "" "g.70942483_70942486del" "" "pathogenic" "" "0000188048" "1" "90" "5" "70238310" "70238313" "del" "0" "00006" "SMN1_000008" "g.70238310_70238313del" "" "{PMID:Bussaglia 1995:7581461}, {PMID:Cusco 2003:12872254}, {OMIM600354:0011}" "" "" "" "Germline" "" "" "0" "" "" "g.70942483_70942486del" "" "pathogenic" "" "0000188049" "1" "90" "5" "70238310" "70238313" "del" "0" "00006" "SMN1_000008" "g.70238310_70238313del" "" "{PMID:Bussaglia 1995:7581461}, {PMID:Cusco 2003:12872254}, {OMIM600354:0011}" "" "" "" "Germline" "" "" "0" "" "" "g.70942483_70942486del" "" "pathogenic" "" "0000188050" "1" "90" "5" "70238310" "70238313" "del" "0" "00006" "SMN1_000008" "g.70238310_70238313del" "" "{PMID:Bussaglia 1995:7581461}, {PMID:Cusco 2003:12872254}, {OMIM600354:0011}" "" "" "" "Germline" "" "" "0" "" "" "g.70942483_70942486del" "" "pathogenic" "" "0000188051" "1" "90" "5" "70238310" "70238313" "del" "0" "00006" "SMN1_000008" "g.70238310_70238313del" "" "{PMID:Martin 2002:11935338}" "" "430del4" "" "Germline" "" "" "0" "" "" "g.70942483_70942486del" "" "pathogenic" "" "0000188052" "1" "90" "5" "70238311" "70238311" "subst" "0" "00006" "SMN1_000009" "g.70238311G>A" "" "Clermont 1997, {PMID:Wirth 2000:10679938}" "" "433G>A" "" "Germline" "" "" "0" "" "" "g.70942484G>A" "" "pathogenic" "" "0000188053" "1" "90" "5" "70238317" "70238317" "subst" "0" "00006" "SMN1_000045" "g.70238317C>G" "" "{PMID:Cusco 2004:15249625}, {OMIM600354:0018}" "" "" "" "Germline" "" "" "0" "" "" "g.70942490C>G" "" "pathogenic" "" "0000188054" "1" "90" "5" "70238350" "70238354" "del" "0" "00006" "SMN1_000010" "g.70238350_70238354del" "" "{PMID:Sossi 2001:11313744}, {OMIM600354:0009}" "" "425del5" "" "Germline" "" "" "0" "" "" "g.70942523_70942527del" "" "pathogenic" "" "0000188055" "1" "90" "5" "70238350" "70238354" "del" "0" "00006" "SMN1_000010" "g.70238350_70238354del" "" "{PMID:Brahe 1996:8968751}" "" "425del5 and 472del5" "" "Germline" "" "" "0" "" "" "g.70942523_70942527del" "" "pathogenic" "" "0000188056" "1" "90" "5" "70238580" "70238581" "del" "0" "00006" "SMN1_000011" "g.70238580_70238581del" "" "{PMID:Parsons 1998:9719377}, {PMID:Parsons 1998:9837824}" "" "542delGT" "" "Germline" "" "" "0" "" "" "g.70942753_70942754del" "" "pathogenic" "" "0000188057" "1" "90" "5" "70238594" "70238594" "del" "0" "00400" "SMN1_000046" "g.70238594del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70942767del" "" "pathogenic" "" "0000188058" "1" "90" "5" "70238628" "70238628" "del" "0" "00006" "SMN1_000012" "g.70238628del" "" "{PMID:Wirth 1999:10205265}" "" "591delA" "" "Germline" "" "" "0" "" "" "g.70942801del" "" "pathogenic" "" "0000188059" "1" "90" "5" "70238655" "70238655" "dup" "0" "00006" "SMN1_000013" "g.70238655dup" "" "Clermont 1997, {PMID:Wirth 2000:10679938}" "" "618insT" "" "Germline" "" "" "0" "" "" "g.70942828dup" "" "pathogenic" "" "0000188060" "1" "90" "5" "70240485" "70242003" "del" "0" "00006" "SMN1_000014" "g.70240485_70242003del" "" "{PMID:Wirth 1999:10205265}" "" "IVS4_IVS6del" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.70944658_70946176del" "" "pathogenic" "" "0000188061" "11" "90" "5" "70240540" "70240540" "subst" "0" "00006" "SMN1_000015" "g.70240540T>A" "" "{PMID:Bai 2014:25014214}" "" "" "significantly reduced level SMN1 RNA" "Germline" "yes" "" "0" "" "" "g.70944713T>A" "" "pathogenic" "" "0000188062" "11" "70" "5" "70240546" "70240546" "subst" "0" "02203" "SMN1_000058" "g.70240546C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70944719C>T" "" "likely pathogenic" "" "0000188063" "11" "70" "5" "70240546" "70240546" "subst" "0" "02203" "SMN1_000058" "g.70240546C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70944719C>T" "" "likely pathogenic" "" "0000188064" "1" "90" "5" "70240540" "70240540" "subst" "0" "00006" "SMN1_000015" "g.70240540T>A" "" "{PMID:Tsai 2001:11574104}" "" "" "" "Germline" "" "" "0" "" "" "g.70944713T>A" "" "pathogenic" "" "0000188065" "21" "90" "5" "0" "0" "ins" "0" "02202" "SMN1_000067" "g.?" "" "" "" "hg19 chr5:g.70247745_70247746insNC_000004.11:81302538_81302865{81302854C>A}" "insertion occurs in intron 6 branch point, predicted to alter splicing of exon 7" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000188066" "1" "90" "5" "70241903" "70241903" "subst" "0" "00006" "SMN1_000016" "g.70241903C>T" "" "{PMID:Rochette 1997:10732817}" "" "767C>T" "" "Germline" "" "" "0" "" "" "g.70946076C>T" "" "pathogenic" "" "0000188067" "1" "90" "5" "70241903" "70241903" "dup" "0" "00400" "SMN1_000037" "g.70241903dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70946076dup" "" "pathogenic" "" "0000188068" "1" "90" "5" "70241909" "70241909" "dup" "0" "00006" "SMN1_000017" "g.70241909dup" "" "{PMID:Martin 2002:11935338}" "" "773insC" "" "Germline" "" "" "0" "" "" "g.70946082dup" "" "pathogenic" "" "0000188069" "21" "70" "5" "70241913" "70241913" "del" "0" "02203" "SMN1_000064" "g.70241913del" "" "" "" "(Pro247Profs*17)" "" "Germline" "" "" "0" "" "" "g.70946086del" "" "likely pathogenic" "" "0000188070" "1" "90" "5" "70241939" "70241949" "dup" "0" "00400" "SMN1_000018" "g.70241939_70241949dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70946112_70946122dup" "" "pathogenic" "" "0000188071" "2" "90" "5" "70241939" "70241949" "dup" "0" "00400" "SMN1_000018" "g.70241939_70241949dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70946112_70946122dup" "" "pathogenic" "" "0000188072" "21" "90" "5" "70241939" "70241949" "dup" "0" "00006" "SMN1_000018" "g.70241939_70241949dup" "" "{PMID:Parsons 1998:9837824}, {OMIM600354:0001}" "" "813ins/dup11 and 800ins11" "" "Germline" "" "" "0" "" "" "g.70946112_70946122dup" "" "pathogenic" "" "0000188073" "2" "90" "5" "70241939" "70241949" "dup" "0" "00400" "SMN1_000018" "g.70241939_70241949dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70946112_70946122dup" "" "pathogenic" "" "0000188074" "1" "90" "5" "70241939" "70241949" "dup" "0" "00006" "SMN1_000018" "g.70241939_70241949dup" "" "Clermont 1997, {PMID:Martin 2002:11935338}, {PMID:Parsons 1996:8922999}, {PMID:Wirth 2000:10679938}" "" "813ins/dup11 and 800ins11" "" "Germline" "" "" "0" "" "" "g.70946112_70946122dup" "" "pathogenic" "" "0000188075" "1" "90" "5" "70241953" "70241953" "subst" "0" "00006" "SMN1_000043" "g.70241953A>G" "" "{PMID:Sun 2005:15580564}, {OMIM600354:0016}" "" "" "" "Germline" "" "" "0" "" "" "g.70946126A>G" "" "pathogenic" "" "0000188076" "11" "90" "5" "70241954" "70241954" "subst" "0" "00006" "SMN1_000019" "g.70241954G>T" "" "{PMID:Hahnen 1997:9158159}, {OMIM600354:0003}" "" "818G>T" "" "Germline" "" "" "0" "" "" "g.70946127G>T" "" "pathogenic" "" "0000188077" "1" "90" "5" "70241954" "70241954" "subst" "0" "00006" "SMN1_000019" "g.70241954G>T" "" "{PMID:McAndrew 1997:9199562}" "" "818G>T" "" "Germline" "" "" "0" "" "" "g.70946127G>T" "" "pathogenic" "" "0000188078" "0" "70" "5" "70241980" "70241983" "dup" "0" "02203" "SMN1_000062" "g.70241980_70241983dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70946153_70946156dup" "" "likely pathogenic" "" "0000188079" "1" "90" "5" "70241984" "70241984" "subst" "0" "00006" "SMN1_000021" "g.70241984A>G" "" "{PMID:Lefebvre 1995:7813012}, {OMIM600354:0004}" "" "848A>G" "" "Germline" "" "" "0" "" "" "g.70946157A>G" "" "pathogenic" "" "0000188080" "1" "90" "5" "70241984" "70241984" "subst" "0" "00006" "SMN1_000021" "g.70241984A>G" "" "{PMID:Rochette 1997:10732817}, {PMID:Wirth 2000:10679938}, {PMID:Wirth 1999:10205265}" "" "848A>G" "" "Germline" "" "" "0" "" "" "g.70946157A>G" "" "pathogenic" "" "0000188081" "2" "90" "5" "70241988" "70241988" "dup" "0" "02204" "SMN1_000055" "g.70241988dup" "" "{PMID:Yamamoto 2013:24359787}" "" "819_820insT" "" "Unknown" "" "" "0" "" "" "g.70946161dup" "" "pathogenic" "" "0000188082" "21" "90" "5" "70241990" "70241990" "subst" "0" "00006" "SMN1_000022" "g.70241990C>T" "" "{PMID:Hahnen 1997:9158159}, {OMIM600354:0002}" "" "854C>T" "haplotype shared with other German family" "Germline" "" "" "0" "" "" "g.70946163C>T" "" "pathogenic" "" "0000188083" "21" "90" "5" "70241990" "70241990" "subst" "0" "00006" "SMN1_000022" "g.70241990C>T" "" "{PMID:Hahnen 1997:9158159}, {OMIM600354:0002}" "" "854C>T" "haplotype shared with other German family" "Germline" "" "" "0" "" "" "g.70946163C>T" "" "pathogenic" "" "0000188084" "1" "90" "5" "70241990" "70241990" "subst" "0" "00006" "SMN1_000022" "g.70241990C>T" "" "{PMID:Hahnen 1997:9158159}, {PMID:Parsons 1998:9837824}, {PMID:Wirth 1999:10205265}, {OMIM600354:0002}" "" "854C>T" "" "Germline" "" "" "0" "" "" "g.70946163C>T" "" "pathogenic" "" "0000188085" "1" "90" "5" "70241992" "70241992" "subst" "0" "00006" "SMN1_000023" "g.70241992G>A" "" "{PMID:Skordis 2001:11379882}" "" "" "" "Germline" "" "" "0" "" "" "g.70946165G>A" "" "pathogenic" "" "0000188086" "2" "90" "5" "70241999" "70241999" "subst" "0" "02204" "SMN1_000056" "g.70241999A>G" "" "{PMID:Yamamoto 2013:24359787}" "" "" "" "Unknown" "" "" "0" "" "" "g.70946172A>G" "" "pathogenic" "" "0000188087" "1" "90" "5" "70242005" "70242005" "subst" "0" "00006" "SMN1_000024" "g.70242005T>G" "" "{PMID:Martin 2002:11935338}" "" "867+2T>G" "" "Germline" "" "" "0" "" "" "g.70946178T>G" "" "pathogenic" "" "0000188088" "1" "10" "5" "70247744" "70247744" "dup" "0" "00006" "SMN1_000035" "g.70247744dup" "" "{PMID:Ogino 2002:11992267}" "" "" "" "Germline" "" "" "0" "" "" "g.70951917dup" "" "benign" "" "0000188089" "1" "90" "5" "70247750" "70247756" "del" "0" "00006" "SMN1_000025" "g.70247750_70247756del" "" "{PMID:Lefebvre 1995:7813012}, {PMID:Wirth 2000:10679938}" "" "868-11del7" "" "Germline" "" "" "0" "" "" "g.70951923_70951929del" "" "pathogenic" "" "0000188090" "10" "90" "5" "70247763" "70247763" "subst" "0" "02203" "SMN1_000063" "g.70247763T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70951936T>G" "" "pathogenic" "" "0000188091" "0" "50" "5" "70247765" "70247765" "subst" "0.00000822368" "00505" "SMN1_000049" "g.70247765C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70951938C>T" "" "VUS" "" "0000188092" "1" "90" "5" "70247768" "70247768" "subst" "0.0000041113" "00006" "SMN1_000026" "g.70247768G>T" "" "{PMID:Wang 1998:10732802}" "" "868G>T" "" "Germline" "" "" "0" "" "" "g.70951941G>T" "" "pathogenic" "" "0000188093" "1" "90" "5" "70247769" "70247769" "subst" "0" "00006" "SMN1_000027" "g.70247769G>T" "" "{PMID:Talbot 1997:9147655}, {OMIM600354:0005}" "" "869G>T" "" "Germline" "" "" "0" "" "" "g.70951942G>T" "" "pathogenic" "" "0000188094" "1" "50" "5" "70247773" "70247773" "subst" "0" "00006" "SMN1_000047" "g.70247773C>T" "" "" "" "" "difference with SMN2 gene" "Germline" "" "" "0" "" "" "g.70951946C>T" "" "VUS" "" "0000188095" "11" "70" "5" "70247796" "70247796" "subst" "0" "02203" "SMN1_000057" "g.70247796G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70951969G>T" "" "likely pathogenic" "" "0000188096" "11" "70" "5" "70247796" "70247796" "subst" "0" "02203" "SMN1_000057" "g.70247796G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70951969G>T" "" "likely pathogenic" "" "0000188097" "0" "70" "5" "70247796" "70247796" "subst" "0" "02203" "SMN1_000057" "g.70247796G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70951969G>T" "" "likely pathogenic" "" "0000188098" "1" "90" "5" "70247825" "70247828" "del" "0" "00006" "SMN1_000028" "g.70247825_70247828del" "" "{PMID:Wirth 2000:10679938}" "" "922+3del4" "" "Germline" "" "" "0" "" "" "g.70951998_70952001del" "" "pathogenic" "" "0000188099" "1" "90" "5" "70247825" "70247828" "del" "0" "00006" "SMN1_000028" "g.70247825_70247828del" "" "{PMID:Lefebvre 1995:7813012}" "" "922+3del4" "" "Germline" "" "" "0" "" "" "g.70951998_70952001del" "" "pathogenic" "" "0000188100" "1" "90" "5" "70247827" "70247827" "subst" "0" "00006" "SMN1_000029" "g.70247827T>G" "" "{PMID:Lorson 1999:10339583}, {OMIM600354:0008}" "" "922+6T>G" "" "Germline" "" "" "0" "" "" "g.70952000T>G" "" "pathogenic" "" "0000188101" "1" "90" "5" "70247827" "70247827" "subst" "0" "00006" "SMN1_000029" "g.70247827T>G" "" "{PMID:Wirth 1999:10205265}" "" "922+6T>G" "" "Germline" "" "" "0" "" "" "g.70952000T>G" "" "pathogenic" "" "0000188102" "1" "90" "5" "70248265" "70248837" "" "0" "00006" "SMN1_000030" "g.(70247822_70248265)_(70248837_?)del" "" "{PMID:Gambardella 1998:9818944}, {OMIM600354:0007}" "" "del exon 8" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000188103" "1" "90" "5" "70248265" "70248837" "" "0" "00006" "SMN1_000030" "g.(70247822_70248265)_(70248837_?)del" "" "{PMID:Gambardella 1998:9818944}, {OMIM600354:0007}" "" "del exon 8" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000188104" "2" "90" "5" "70248265" "70248837" "" "0" "00006" "SMN1_000030" "g.(70247822_70248265)_(70248837_?)del" "" "{PMID:Gambardella 1998:9818944}, {OMIM600354:0007}" "" "del exon 8" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000188105" "1" "50" "5" "70248501" "70248501" "subst" "0" "00006" "SMN1_000048" "g.70248501G>A" "" "" "" "" "difference with SMN2 gene" "Germline" "" "" "0" "" "" "g.70952674G>A" "" "VUS" "" "0000188106" "1" "10" "5" "70248600" "70248601" "delins" "0" "00006" "SMN1_000032" "g.70248600_70248601delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70952773_70952774delinsGC" "" "benign" "" "0000188107" "3" "90" "5" "70220978" "70220985" "dup" "0" "00006" "SMN1_000068" "g.70220978_70220985dup" "" "{PMID:Kirwin 2013:24498607}" "" "48_55dupGGATTCCG" "" "Germline" "yes" "" "0" "" "" "g.70925151_70925158dup" "" "pathogenic" "" "0000188108" "3" "50" "5" "70240519" "70240519" "subst" "0.0000611247" "00006" "SMN1_000069" "g.70240519C>T" "" "{PMID:Kirwin 2013:24498607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70944692C>T" "" "VUS" "" "0000244117" "0" "30" "5" "70248473" "70248474" "del" "0" "02365" "SMN1_000071" "g.70248473_70248474del" "" "" "" "*210_*211del" "" "Germline" "" "rs200800214" "0" "" "" "g.70952646_70952647del" "" "likely benign" "" "0000244118" "0" "30" "5" "70248473" "70248474" "del" "0" "02365" "SMN1_000071" "g.70248473_70248474del" "" "" "" "*210_*211del g.27706_27707delAT" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs200800214" "0" "" "" "g.70952647_70952648del" "" "likely benign" "" "0000244123" "0" "30" "5" "70248473" "70248474" "del" "0" "02365" "SMN1_000071" "g.70248473_70248474del" "" "" "" "*210_*211del g.27706_27707delAT" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs200800214" "0" "" "" "g.70952647_70952648del" "" "likely benign" "" "0000244124" "0" "30" "5" "70247901" "70247901" "subst" "0" "02365" "SMN1_000070" "g.70247901T>G" "" "" "" "g.27134T>G" "" "Germline" "" "rs143838139" "0" "" "" "g.70952074T>G" "" "likely benign" "" "0000251015" "0" "10" "5" "70238373" "70238373" "subst" "0" "02326" "SMN1_000074" "g.70238373A>G" "" "" "" "SMN1(NM_000344.3):c.462A>G (p.Q154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70942546A>G" "" "benign" "" "0000252484" "0" "90" "5" "70238612" "70238612" "subst" "0" "02326" "SMN1_000075" "g.70238612A>G" "" "" "" "SMN1(NM_000344.3):c.542A>G (p.D181G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70942785A>G" "" "pathogenic" "" "0000296061" "0" "30" "5" "70248473" "70248474" "del" "0" "02330" "SMN1_000071" "g.70248473_70248474del" "" "" "" "SMN1(NM_000344.4):c.*211_*212delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70952646_70952647del" "" "likely benign" "" "0000302359" "0" "50" "5" "70238332" "70238332" "subst" "0" "02326" "SMN1_000073" "g.70238332C>T" "" "" "" "SMN1(NM_000344.3):c.421C>T (p.L141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70942505C>T" "" "VUS" "" "0000302360" "0" "10" "5" "70247773" "70247773" "subst" "0" "02326" "SMN1_000047" "g.70247773C>T" "" "" "" "SMN1(NM_000344.3):c.840C>T (p.F280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70951946C>T" "" "benign" "" "0000302361" "0" "50" "5" "70234668" "70234668" "subst" "0" "02326" "SMN1_000072" "g.70234668C>T" "" "" "" "SMN1(NM_000344.3):c.84C>T (p.S28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70938841C>T" "" "VUS" "" "0000379072" "21" "70" "5" "70238559" "70238563" "del" "0" "02502" "SMN1_000076" "g.70238559_70238563del" "" "" "" "489_493delCCAAG" "" "De novo" "?" "" "0" "" "" "g.70942732_70942736del" "" "likely pathogenic" "" "0000379080" "0" "70" "5" "70240494" "70240515" "del" "0" "02502" "SMN1_000077" "g.70240494_70240515del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.70944667_70944688del" "" "likely pathogenic" "" "0000379081" "0" "70" "5" "70238621" "70238621" "dup" "0" "02502" "SMN1_000080" "g.70238621dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70942794dup" "" "likely pathogenic" "" "0000379082" "0" "70" "5" "70238543" "70238543" "subst" "0" "02502" "SMN1_000079" "g.70238543A>T" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.70942716A>T" "" "likely pathogenic" "" "0000379083" "11" "50" "5" "70241936" "70241936" "subst" "0" "02502" "SMN1_000078" "g.70241936A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.70946109A>T" "" "VUS" "" "0000478200" "0" "90" "5" "70238606" "70238610" "del" "0" "01741" "SMN1_000083" "g.70238606_70238610del" "" "" "" "" "localisation of fs-mutation (in SMN1 or SMN2) not analysed yet" "Germline/De novo (untested)" "" "" "0" "" "" "g.70942779_70942783del" "" "pathogenic" "" "0000478222" "3" "90" "5" "70247767" "70247822" "del" "0" "00006" "SMN1_000082" "g.(?_70247767)_(70247822_?)del" "" "{PMID:Prior 2009:19716110}" "" "ex7 del homozygous)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000478228" "3" "90" "5" "70247767" "70247822" "del" "0" "00006" "SMN1_000082" "g.(?_70247767)_(70247822_?)del" "" "{PMID:Prior 2009:19716110}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000478232" "3" "90" "5" "70247767" "70247822" "del" "0" "00006" "SMN1_000082" "g.(?_70247767)_(70247822_?)del" "" "{PMID:Prior 2009:19716110}" "" "0 SMN1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000478240" "0" "90" "5" "70247767" "70247822" "del" "0" "00006" "SMN1_000084" "g.(70241894_70247767)_(70247822_70248265)del" "" "" "" "1 copy ex7-8 SMN1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000630991" "0" "90" "5" "70238185" "70238195" "del" "0" "03553" "SMN1_000085" "g.70238185_70238195del" "" "" "" "g.348_358del" "" "Germline" "" "" "0" "" "" "g.70942358_70942368del" "" "pathogenic" "" "0000694119" "3" "90" "5" "70247767" "70247822" "del" "0" "03695" "SMN1_000082" "g.(?_70247767)_(70247822_?)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000760981" "3" "90" "5" "70241892" "70247822" "del" "0" "00006" "SMN1_000050" "g.(70240581_70241892)_(70247822_70248265)del" "" "{PMID:Xia 2021:33777091}" "" "del ex7-8" "" "Germline" "" "" "0" "" "" "9.(70944754_70946065)_(70951995_70952438)del" "" "pathogenic (recessive)" "" "0000842388" "3" "90" "5" "70247768" "70247768" "subst" "0.0000041113" "00006" "SMN1_000026" "g.70247768G>T" "" "{PMID:Sharifi 2021:33481221}" "" "" "" "Germline" "" "" "0" "" "" "g.70951941G>T" "" "pathogenic (recessive)" "ACMG" "0000842389" "1" "90" "5" "70238194" "70238194" "subst" "0" "00006" "SMN1_000041" 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"0000872048" "3" "90" "5" "70220768" "70248839" "del" "0" "00006" "SMN1_000087" "g.(?_70220768)_(70248839_?)del" "" "{PMID:Cerino 2022:35741838}" "" "NM_000344.3: SMN1 0 copies" "ACMG PVS1, PP4_mod" "Germline" "" "" "0" "" "" "g.(?_70924941)_(70953012_?)del" "" "pathogenic" "ACMG" "0000872049" "3" "90" "5" "70220768" "70248839" "del" "0" "00006" "SMN1_000087" "g.(?_70220768)_(70248839_?)del" "" "{PMID:Cerino 2022:35741838}" "" "NM_000344.3:SMN1 0 copies NM_017411.3:SMN2 3 copies" "ACMG PVS1, PP4_mod" "Germline" "" "" "0" "" "" "g.(?_70924941)_(70953012_?)del" "" "pathogenic" "ACMG" "0000879065" "21" "70" "5" "70238619" "70238619" "del" "0" "01164" "SMN1_000088" "g.70238619del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "yes" "" "0" "" "" "g.70942792del" "VCV001699219.1" "likely pathogenic (recessive)" "ACMG" "0000879066" "11" "70" "5" "70241984" "70241984" "subst" "0" "01164" "SMN1_000021" "g.70241984A>G" "" "" "" "" "ACMG: PS4, PM3, PS3_SUP, PM2_SUP, PP3" "Germline" "yes" "" "" "" "" "" "VCV000009166.3" "likely pathogenic (recessive)" "ACMG" "0000906030" "3" "90" "5" "0" "0" "" "0" "00006" "RAD50_000000" "g.?" "2/73,755 controls" "{PMID:Reiner 2022:36459106}" "" "del ex7" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000906031" "3" "90" "5" "0" "0" "" "0" "00006" "RAD50_000000" "g.?" "2/73,755 controls" "{PMID:Reiner 2022:36459106}" "" "del ex7" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SMN1 ## Count = 222 "{{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}}" "0000001092" "00000174" "90" "724" "-1" "888" "1" "c.(723+1_724-1)_(*3+1_*4-1)del" "r.(del)" "p.?" "7i_9i" "0000187945" "00000174" "90" "-14" "0" "-14" "0" "c.-14C>T" "r.(?)" "p.(=)" "1" "0000187946" "00000174" "90" "-14" "0" "-14" "0" "c.-14C>T" "r.(?)" 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"p.(=)" "9" "0000244123" "00000174" "30" "1096" "0" "1097" "0" "c.*211_*212del" "r.(?)" "p.(=)" "10" "0000244124" "00000174" "30" "888" "80" "888" "80" "c.*3+80T>G" "r.(?)" "p.(=)" "8i" "0000251015" "00000174" "10" "462" "0" "462" "0" "c.462A>G" "r.(?)" "p.(Gln154=)" "" "0000252484" "00000174" "90" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Asp181Gly)" "" "0000296061" "00000174" "30" "1096" "0" "1097" "0" "c.*211_*212del" "r.(=)" "p.(=)" "" "0000302359" "00000174" "50" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Leu141=)" "" "0000302360" "00000174" "10" "840" "0" "840" "0" "c.840C>T" "r.(?)" "p.(Phe280=)" "" "0000302361" "00000174" "50" "84" "0" "84" "0" "c.84C>T" "r.(?)" "p.(Ser28=)" "" "0000379072" "00000174" "70" "489" "0" "493" "0" "c.489_493del" "r.(?)" "p.(Gln164Phefs*4)" "5" "0000379080" "00000174" "70" "637" "0" "658" "0" "c.637_658del" "r.(637_658del)" "p.(Lys213Hisfs*23)" "7" "0000379081" "00000174" "70" "551" "0" "551" "0" "c.551dup" "r.(551dup)" "p.(Pro185Alafs*71)" "5" "0000379082" "00000174" "70" "475" "-2" "475" "-2" "c.475-2A>T" "r.spl" "p.?" "5" "0000379083" "00000174" "50" "767" "0" "767" "0" "c.767A>T" "r.spl?" "p.(Asp256Val)" "7" "0000478200" "00000174" "90" "536" "0" "540" "0" "c.536_540del" "r.(?)" "p.(Lys179Argfs*2)" "" "0000478222" "00000174" "90" "835" "-1" "888" "1" "c.(?_835-1)_(*3+1_?)del" "r.?" "p.?" "_7i_8i_" "0000478228" "00000174" "90" "835" "-1" "888" "1" "c.(?_835-1)_(*3+1_?)del" "r.?" "p.?" "_7i_8i_" "0000478232" "00000174" "90" "835" "-1" "888" "1" "c.(?_835-1)_(*3+1_?)del" "r.?" "p.?" "_7i_8i_" "0000478240" "00000174" "90" "835" "-1" "888" "1" "c.(724+1_835-1)_(*3+1_*4-1)del" "r.?" "p.?" "6i_8i" "0000630991" "00000174" "90" "274" "0" "284" "0" "c.274_284del" "r.(?)" "p.(Trp92Glyfs*22)" "3" "0000694119" "00000174" "90" "835" "-1" "888" "1" "c.(?_835-1)_(*3+1_?)del" "r.spl?" "p.?" "7i_8i" "0000760981" "00000174" "90" "724" "-1" "888" "1" "c.(723+1_724-1)_(*3+1_*4-1)del" "r.?" "p.?" "7i_9i" "0000842388" "00000174" "90" "835" "0" "835" "0" "c.835G>T" "r.(?)" "p.(Gly279Cys)" "" "0000842389" "00000174" "90" "283" "0" "283" "0" "c.283G>C" "r.(?)" "p.(Gly95Arg)" "" "0000842390" "00000174" "90" "549" "0" "549" "0" "c.549del" "r.(?)" "p.(Lys184Serfs*29)" "" "0000842391" "00000174" "90" "735" "0" "735" "0" "c.735dup" "r.(?)" "p.(Pro246ThrfsTer10)" "" "0000842392" "00000174" "70" "838" "0" "838" "0" "c.838T>A" "r.(?)" "p.(Phe280Ile)" "" "0000842444" "00000174" "90" "835" "-1" "888" "1" "c.(834+1_835-1)_(*3+1_*4-1)del" "r.?" "p.?" "7i_8i" "0000842445" "00000174" "90" "840" "0" "840" "0" "c.840C>T" "r.spl" "p.?" "8" "0000842446" "00000174" "90" "835" "-1" "888" "1" "c.(834+1_835-1)_(*3+1_*4-1)del" "r.?" "p.?" "7i_8i" "0000842450" "00000174" "90" "0" "0" "0" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842455" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842456" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842457" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842458" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842460" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842463" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842465" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842468" "00000174" "90" "0" "0" "0" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842471" "00000174" "90" "0" "0" "0" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842474" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842476" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842479" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842482" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842485" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842488" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842490" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000842491" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9_" "0000869801" "00000174" "90" "835" "0" "835" "0" "c.835G>C" "r.(?)" "p.(Gly279Arg)" "" "0000869802" "00000174" "90" "0" "0" "0" "0" "c.(834+1_835-1)_*577{0}" "r.?" "p.?" "7i_9_" "0000872048" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9" "0000872049" "00000174" "90" "" "0" "" "0" "c.-163_*577{0}" "r.0" "p.0" "_1_9" "0000879065" "00000174" "70" "549" "0" "549" "0" "c.549del" "r.(?)" "p.(Lys184Serfs*29)" "" "0000879066" "00000174" "70" "815" "0" "815" "0" "c.815A>G" "r.(?)" "p.(Tyr272Cys)" "" "0000906030" "00000174" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000906031" "00000174" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 216 "{{screeningid}}" "{{variantid}}" "0000000037" "0000001092" "0000117167" "0000187945" "0000117167" "0000187958" "0000117167" "0000188020" "0000117168" "0000187946" "0000117168" "0000187989" "0000117168" "0000188021" "0000117169" "0000187947" "0000117170" "0000187948" "0000117170" "0000187949" "0000117171" "0000187950" "0000117171" "0000187951" "0000117172" "0000187952" "0000117172" "0000188102" "0000117173" "0000187953" "0000117173" "0000188072" "0000117174" "0000187954" "0000117174" "0000188082" "0000117175" "0000187955" "0000117175" "0000188083" "0000117176" "0000187956" "0000117176" "0000188076" "0000117177" "0000187957" "0000117177" "0000188079" "0000117178" "0000187959" "0000117178" "0000188100" "0000117179" "0000187960" "0000117179" "0000188054" "0000117180" "0000187961" "0000117180" "0000188042" "0000117181" "0000187962" "0000117181" "0000188043" "0000117182" "0000187963" "0000117182" "0000188047" "0000117183" "0000187964" "0000117183" "0000188048" "0000117184" "0000187965" "0000117184" "0000188049" "0000117185" "0000187966" "0000117185" "0000188050" "0000117186" "0000187967" "0000117186" "0000188035" "0000117187" "0000187968" "0000117187" "0000188037" "0000117188" "0000187969" "0000117188" "0000188041" "0000117189" "0000187970" "0000117189" "0000188045" "0000117190" "0000187971" "0000117190" "0000188075" "0000117191" "0000187972" "0000117191" "0000188046" "0000117192" "0000187973" "0000117192" "0000188053" "0000117193" "0000187974" "0000117193" "0000188057" "0000117194" "0000187975" "0000117194" "0000188067" "0000117195" "0000187976" "0000117195" "0000188073" "0000117196" "0000187977" "0000117197" "0000187978" "0000117198" "0000187979" "0000117198" "0000188101" "0000117199" "0000187980" "0000117199" "0000188038" "0000117200" "0000187981" "0000117200" "0000188025" "0000117201" "0000187982" "0000117201" "0000188051" "0000117202" "0000187983" "0000117202" "0000188052" "0000117203" "0000187984" "0000117203" "0000188055" "0000117204" "0000187985" "0000117204" "0000188031" "0000117205" "0000187986" "0000117205" "0000188056" "0000117206" "0000187987" "0000117206" "0000188058" "0000117207" "0000187988" "0000117207" "0000188059" "0000117208" "0000187990" "0000117208" "0000188060" "0000117209" "0000187991" "0000117209" "0000188064" "0000117210" "0000187992" "0000117210" "0000188066" "0000117211" "0000187993" "0000117211" "0000188068" "0000117212" "0000187994" "0000117212" "0000188074" "0000117213" "0000187995" "0000117213" "0000188077" "0000117214" "0000187996" "0000117214" "0000188034" "0000117215" "0000187997" "0000117215" "0000188080" "0000117216" "0000187998" "0000117216" "0000188084" "0000117217" "0000187999" "0000117217" "0000188085" "0000117218" "0000188000" "0000117218" "0000188087" "0000117219" "0000188001" "0000117219" "0000188089" "0000117220" "0000188002" "0000117220" "0000188092" "0000117221" "0000188003" "0000117221" "0000188093" "0000117222" "0000188004" "0000117222" "0000188036" "0000117223" "0000188005" "0000117223" "0000188022" "0000117224" "0000188006" "0000117224" "0000188026" "0000117225" "0000188007" "0000117225" "0000188027" "0000117226" "0000188008" "0000117226" "0000188028" "0000117227" "0000188009" "0000117227" "0000188029" "0000117228" "0000188010" "0000117228" "0000188030" "0000117229" "0000188011" "0000117229" "0000188032" "0000117230" "0000188012" "0000117230" "0000188033" "0000117231" "0000188013" "0000117231" "0000188061" "0000117232" "0000188014" "0000117232" "0000188023" "0000117233" "0000188015" "0000117233" "0000188039" "0000117234" "0000188016" "0000117234" "0000188040" "0000117235" "0000188017" "0000117235" "0000188081" "0000117236" "0000188018" "0000117236" "0000188086" "0000117237" "0000188019" "0000117237" "0000188024" "0000117238" "0000188044" "0000117239" "0000188062" "0000117240" "0000188063" "0000117241" "0000188065" "0000117242" "0000188069" "0000117243" "0000188070" "0000117243" "0000188071" "0000117244" "0000188078" "0000117245" "0000188088" "0000117246" "0000188090" "0000117247" "0000188091" "0000117248" "0000188094" "0000117248" "0000188105" "0000117249" "0000188095" "0000117250" "0000188096" "0000117251" "0000188097" "0000117252" "0000188098" "0000117253" "0000188099" "0000117254" "0000188103" "0000117254" "0000188104" "0000117255" "0000188106" "0000117256" "0000188107" "0000117256" "0000188108" "0000150970" "0000244117" "0000150971" "0000244118" "0000150975" "0000244123" "0000150975" "0000244124" "0000168932" "0000379072" "0000168944" "0000379080" "0000168945" "0000379081" "0000168946" "0000379082" "0000168947" "0000379083" "0000235444" "0000478200" "0000235455" "0000478240" "0000235457" "0000478222" "0000235458" "0000478228" "0000235462" "0000478232" "0000276842" "0000630991" "0000312530" "0000694119" "0000360867" "0000760981" "0000406157" "0000842388" "0000406158" "0000842389" "0000406158" "0000842455" "0000406159" "0000842390" "0000406159" "0000842456" "0000406160" "0000842391" "0000406160" "0000842457" "0000406161" "0000842392" "0000406161" "0000842458" "0000406206" "0000842444" "0000406207" "0000842445" "0000406208" "0000842446" "0000406208" "0000842450" "0000406209" "0000842460" "0000406210" "0000842463" "0000406211" "0000842465" "0000406212" "0000842468" "0000406213" "0000842471" "0000406214" "0000842474" "0000406215" "0000842476" "0000406216" "0000842479" "0000406217" "0000842482" "0000406218" "0000842485" "0000406219" "0000842488" "0000406220" "0000842490" "0000406221" "0000842491" "0000412460" "0000869801" "0000412460" "0000869802" "0000414397" "0000872048" "0000414398" "0000872049" "0000419139" "0000879065" "0000419139" "0000879066" "0000428307" "0000906030" "0000428308" "0000906031"