### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC22A5) # 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}}" "SLC22A5" "solute carrier family 22 (organic cation/carnitine transporter), member 5" "5" "q23.3" "unknown" "NG_008982.1" "UD_132118980680" "" "" "" "1" "10969" "6584" "603377" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SLC22A5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-18 11:10:33" "00006" "2025-10-12 14:40:43" ## 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}}" "00019155" "SLC22A5" "solute carrier family 22 (organic cation/carnitine transporter), member 5" "001" "NM_003060.3" "" "NP_003051.1" "" "" "" "-264" "3016" "1674" "131705401" "131731306" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01694" "CDSP" "carnitine deficiency, systemic primary (CDSP)" "AR" "212140" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-03 14:59:18" "02050" "IBD1" "bowel disease, inflammatory, type 1 (IBD-1)" "Mu" "266600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC22A5" "01694" ## Individuals ## Do not remove or alter this header ## ## Count = 130 "{{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}}" "00043781" "" "" "00043766" "1" "" "01337" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "M" "?" "Denmark" "00y01m" "0" "" "" "Denmark" "" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00064731" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "40y" "0" "" "" "" "" "00181073" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00206501" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206502" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206503" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206504" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206505" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206506" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206507" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206508" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206512" "" "" "" "1" "" "02998" "" "" "" "" "" "" "0" "" "" "" "" "00206513" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206514" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206515" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206516" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206517" "" "" "" "1" "" "00000" "" "" "F" "" "United States" "" "0" "" "" "" "" "00206518" "" "" "" "1" "" "00000" "" "" "F" "" "United States" "" "0" "" "" "" "" "00206519" "" "" "" "1" "" "00000" "" "" "F" "" "United States" "" "0" "" "" "" "" "00206520" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206521" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206522" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206523" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206524" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206525" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206528" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206529" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206530" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206532" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206533" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206534" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206535" "" "" "" "1" "" "00000" "{PMID:Koizumi 1999:10545605}" "" "" "" "Japan" "" "0" "" "" "" "Pat" "00206537" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206539" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206540" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206541" "" "" "" "1" "" "02998" "" "" "" "" "" "" "0" "" "" "" "" "00206542" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206544" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206545" "" "" "" "1" "" "02998" "" "" "" "" "" "" "0" "" "" "" "" "00206547" "" "" "" "1" "" "02998" "" "" "" "" "" "" "0" "" "" "" "" "00206548" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206549" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206550" "" "" "" "1" "" "00000" "" "" "F" "" "United States" "" "0" "" "" "" "" "00206551" "" "" "" "1" "" "02998" "" "" "" "" "" "" "0" "" "" "" "" "00206552" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206553" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206555" "" "" "" "1" "" "02998" "" "" "" "" "" "" "0" "" "" "" "" "00206556" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206557" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206558" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206559" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206560" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206561" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206562" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206563" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206564" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206565" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206566" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206567" "" "" "" "1" "" "00000" "{PMID:Koizumi 1999:10545605}" "" "" "" "Japan" "" "0" "" "" "" "Pat" "00206568" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206569" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206571" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206572" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206575" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206576" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206578" "" "" "" "1" "" "02998" "" "Maternal CUD picked up by newobnr screen" "F" "?" "Taiwan" "" "0" "" "" "" "" "00206579" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206581" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206582" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206583" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206584" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206585" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206587" "" "" "" "1" "" "02969" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00206588" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206589" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206590" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206591" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206592" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206594" "" "" "" "1" "" "00000" "{PMID:Koizumi 1999:10545605}" "" "M" "" "Japan" "" "0" "" "" "" "FamIW" "00206595" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206596" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206598" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206599" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206600" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206601" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206602" "" "" "" "1" "" "00000" "" "" "F" "" "United States" "" "0" "" "" "" "" "00206603" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206607" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00231293" "" "" "" "1" "" "03272" "" "" "-" "-" "" "" "0" "" "" "" "" "00293725" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293726" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293727" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293728" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293729" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293730" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293731" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293732" "" "" "" "53" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293733" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293734" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293735" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293736" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293737" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293738" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293739" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293740" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296722" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "analysis 55 patients" "F" "" "United States" "" "0" "" "" "white" "NCG_00732" "00300286" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "0" "" "" "Chinese" "NBS_84123" "00300593" "" "" "" "2" "" "00006" "{PMID:Koizumi 1999:10545605}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "FamKR" "00300594" "" "" "" "1" "" "00006" "{PMID:Koizumi 1999:10545605}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Japan" "" "0" "" "" "" "FamTH" "00300595" "" "" "" "1" "" "00006" "{PMID:Koizumi 1999:10545605}" "2-generation family, 1 addected" "F" "" "Japan" "" "0" "" "" "" "FamTM" "00300596" "" "" "" "1" "" "00006" "{PMID:Koizumi 1999:10545605}" "" "F" "" "Japan" "" "0" "" "" "" "FamHR" "00300597" "" "" "" "1" "" "00006" "{PMID:Koizumi 1999:10545605}" "4-generation family, affected, unaffected heterozygous carrier parents/relatives" "F" "" "Japan" "" "0" "" "" "" "FamAK" "00309858" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M014" "00315945" "" "" "" "1" "" "00006" "{PMID:Cordova-Fletes 2020:32597225}" "" "F" "" "Mexico" "" "0" "" "" "" "Pat3" "00374496" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3778" "00452159" "" "" "" "15" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452160" "" "" "" "4" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452161" "" "" "" "4" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452162" "" "" "" "2" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452163" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452164" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452165" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452166" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452167" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00453667" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat83" "00453668" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat84" "00453709" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat125" "00457568" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat11" "00467354" "" "" "" "1" "" "00006" "{PMID:Tong 2018:29581464}" "patient" "F" "" "China" "" "0" "" "" "" "Pat_29" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 130 "{{individualid}}" "{{diseaseid}}" "00043781" "02087" "00050575" "00198" "00064731" "05166" "00181073" "01694" "00206501" "02050" "00206502" "00198" "00206503" "00198" "00206504" "00198" "00206505" "01694" "00206506" "00198" "00206507" "01694" "00206508" "00198" "00206512" "00198" "00206513" "01694" "00206514" "00198" "00206515" "01694" "00206516" "01694" "00206517" "01694" "00206518" "01694" "00206519" "01694" "00206520" "00198" "00206521" "00198" "00206522" "01694" "00206523" "00198" "00206524" "00198" "00206525" "00198" "00206528" "01694" "00206529" "00198" "00206530" "01694" "00206532" "00198" "00206533" "01694" "00206534" "01694" "00206535" "01694" "00206537" "01694" "00206539" "00198" "00206540" "01694" "00206541" "00198" "00206542" "00198" "00206544" "01694" "00206545" "00198" "00206547" "00198" "00206548" "01694" "00206549" "01694" "00206550" "01694" "00206551" "00198" "00206552" "01694" "00206553" "01694" "00206555" "00198" "00206556" "00198" "00206557" "00198" "00206558" "00198" "00206559" "01694" "00206560" "01694" "00206561" "00198" "00206562" "00198" "00206563" "01694" "00206564" "01694" "00206565" "01694" "00206566" "01694" "00206567" "01694" "00206568" "01694" "00206569" "01694" "00206571" "00198" "00206572" "01694" "00206575" "00198" "00206576" "01694" "00206578" "00198" "00206579" "01694" "00206581" "01694" "00206582" "00198" "00206583" "00198" "00206584" "00198" "00206585" "01694" "00206587" "01694" "00206588" "01694" "00206589" "01694" "00206590" "00198" "00206591" "01694" "00206592" "01694" "00206594" "01694" "00206595" "01694" "00206596" "01694" "00206598" "01694" "00206599" "01694" "00206600" "00198" "00206601" "00198" "00206602" "01694" "00206603" "01694" "00206607" "00198" "00231293" "01694" "00293725" "00198" "00293726" "00198" "00293727" "00198" "00293728" "00198" "00293729" "00198" "00293730" "00198" "00293731" "00198" "00293732" "00198" "00293733" "00198" "00293734" "00198" "00293735" "00198" "00293736" "00198" "00293737" "00198" "00293738" "00198" "00293739" "00198" "00293740" "00198" "00296722" "00198" "00300286" "01694" "00300593" "01694" "00300594" "01694" "00300595" "01694" "00300596" "01694" "00300597" "01694" "00309858" "01694" "00315945" "00198" "00374496" "00198" "00452159" "00198" "00452160" "00198" "00452161" "00198" "00452162" "00198" "00452163" "00198" "00452164" "00198" "00452165" "00198" "00452166" "00198" "00452167" "00198" "00453667" "02554" "00453668" "02554" "00453709" "02554" "00457568" "00198" "00467354" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01694, 02050, 02087, 02554, 05166, 05611 ## Count = 66 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000050828" "02087" "00043781" "01337" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053257" "05166" "00064731" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143326" "01694" "00181073" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154440" "02050" "00206501" "00000" "Unknown" "" "Crohns disease, susceptibility, association with" "" "" "" "" "" "" "" "" "" "" "" "0000154441" "00198" "00206502" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154442" "00198" "00206503" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154443" "00198" "00206504" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154444" "00198" "00206506" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154445" "00198" "00206508" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154446" "00198" "00206512" "02998" "Familial, autosomal recessive" "" "Carnitine uptake defect" "" "" "" "" "" "" "" "" "" "" "" "0000154447" "00198" "00206514" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154448" "00198" "00206520" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154449" "00198" "00206521" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154450" "00198" "00206523" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154451" "00198" "00206524" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154452" "00198" "00206525" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154453" "00198" "00206529" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154454" "00198" "00206532" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154455" "00198" "00206539" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154456" "00198" "00206541" "02998" "Familial, autosomal recessive" "" "Carnitine uptake defect" "" "" "" "" "" "" "" "" "" "" "" "0000154457" "00198" "00206542" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154458" "00198" "00206545" "02998" "Familial, autosomal recessive" "" "Carnitine uptake defect" "" "" "" "" "" "" "" "" "" "" "" "0000154459" "00198" "00206547" "02998" "Unknown" "" "Carnitine uptake defect" "" "" "" "" "" "" "" "" "" "" "" "0000154460" "00198" "00206551" "02998" "Familial, autosomal recessive" "" "Carnitine uptake defect / Detected by Newborn screened" "" "" "" "" "" "" "" "" "" "" "" "0000154461" "00198" "00206555" "02998" "Familial, autosomal recessive" "" "Carnitine uptake defect" "" "" "" "" "" "" "" "" "" "" "" "0000154462" "00198" "00206556" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154463" "00198" "00206557" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154464" "00198" "00206558" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154465" "00198" "00206561" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154466" "00198" "00206562" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154467" "00198" "00206571" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154468" "00198" "00206575" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154469" "00198" "00206578" "02998" "Familial, autosomal recessive" "" "Carnitine uptake defect / asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "0000154470" "00198" "00206582" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154471" "00198" "00206583" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154472" "00198" "00206584" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154473" "01694" "00206587" "02969" "Unknown" "" "No symptoms - Adult - Newborn screening" "" "30y" "" "" "" "" "" "" "" "" "" "0000154474" "00198" "00206590" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154475" "00198" "00206600" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000154476" "00198" "00206601" "00000" "Unknown" "" "reduced function, association with" "" "" "" "" "" "" "" "" "" "" "" "0000154478" "00198" "00206607" "00000" "Unknown" "" "carnitine deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000224122" "00198" "00296722" "00006" "Unknown" "10y" "cardiomyopathy, carnitine deficiency" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000227594" "01694" "00300286" "01864" "Familial, autosomal recessive" "00y00m03d" "C0 (free carnitine) value tested by MS/MS: 11.6μmol/L at birth, 4.3μmol/L at 3 years old (reference for C0: 10-60μmol/L)" "" "03y" "" "" "" "" "" "" "systemic primary carnitine deficiency" "none" "" "0000227902" "01694" "00300593" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000227903" "01694" "00300594" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000227904" "01694" "00300595" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000227905" "01694" "00300596" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000227906" "01694" "00300597" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235173" "01694" "00309858" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CDSP" "renal carnitine transport deficiency" "" "0000239690" "00198" "00315945" "00006" "Unknown" "14y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Blau syndrome" "" "0000269706" "00198" "00374496" "00006" "Familial, autosomal recessive" "" "Congenital myopathy, hypotonia, motor development delay and floppy infant." "" "" "" "" "" "" "" "" "" "myopathy" "" "0000340762" "00198" "00452159" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDSP" "primary carnitine uptake defect" "" "0000340763" "00198" "00452160" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDSP" "primary carnitine uptake defect" "" "0000340764" "00198" "00452161" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDSP" "primary carnitine uptake defect" "" "0000340765" "00198" "00452162" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDSP" "primary carnitine uptake defect" "" "0000340766" "00198" "00452163" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDSP" "primary carnitine uptake defect" "" "0000340767" "00198" "00452164" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDSP" "primary carnitine uptake defect" "" "0000340768" "00198" "00452165" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDSP" "primary carnitine uptake defect" "" "0000340769" "00198" "00452166" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDSP" "primary carnitine uptake defect" "" "0000340770" "00198" "00452167" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDSP" "primary carnitine uptake defect" "" "0000342324" "02554" "00453667" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "CDSP" "inborn error of metabolism" "" "0000342325" "02554" "00453668" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342366" "02554" "00453709" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000346032" "00198" "00457568" "00006" "Familial, autosomal recessive" "3.2y" "newborn screening; mild CK elevation, normal development" "" "53d" "" "" "" "" "" "" "CDSP" "newborn screening" "" "0000352561" "05611" "00467354" "00006" "Familial, autosomal recessive" "" "global developmental delay, feeding difficulties in infancy, pneumonia, respiratory failure, muscular hypotonia, abnormality of carnitine metabolism" "9m" "" "" "" "" "" "" "" "CDSP" "neurodevelopmental delay, dyspnea" "" ## Screenings ## Do not remove or alter this header ## ## Count = 130 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000044024" "00043781" "1" "01337" "01337" "2015-06-19 14:24:27" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000064870" "00064731" "1" "01601" "01601" "2016-05-10 12:37:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000182021" "00181073" "1" "02568" "02568" "2018-09-21 16:10:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000207533" "00206501" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207534" "00206502" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207535" "00206503" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207536" "00206504" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207537" "00206505" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207538" "00206506" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207539" "00206507" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207540" "00206508" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207544" "00206512" "1" "02998" "02998" "2012-11-07 15:57:18" "" "" "?" "DNA" "" "" "0000207545" "00206513" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207546" "00206514" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207547" "00206515" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207548" "00206516" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207549" "00206517" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207550" "00206518" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207551" "00206519" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207552" "00206520" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207553" "00206521" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207554" "00206522" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207555" "00206523" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207556" "00206524" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207557" "00206525" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207560" "00206528" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207561" "00206529" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207562" "00206530" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207564" "00206532" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207565" "00206533" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207566" "00206534" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207567" "00206535" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207569" "00206537" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207571" "00206539" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207572" "00206540" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207573" "00206541" "1" "02998" "02998" "2012-11-07 16:00:19" "" "" "?" "DNA" "" "" "0000207574" "00206542" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207576" "00206544" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207577" "00206545" "1" "02998" "02998" "2012-11-07 15:46:30" "" "" "PCR;SEQ" "DNA" "" "" "0000207579" "00206547" "1" "02998" "02998" "2012-11-07 15:54:13" "" "" "SEQ" "DNA" "" "" "0000207580" "00206548" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207581" "00206549" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207582" "00206550" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207583" "00206551" "1" "02998" "02998" "2012-11-07 15:39:01" "" "" "SEQ" "DNA" "" "" "0000207584" "00206552" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207585" "00206553" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207587" "00206555" "1" "02998" "02998" "2012-11-07 15:42:37" "" "" "PCR;SEQ" "DNA" "" "" "0000207588" "00206556" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207589" "00206557" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207590" "00206558" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207591" "00206559" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207592" "00206560" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207593" "00206561" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207594" "00206562" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207595" "00206563" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207596" "00206564" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207597" "00206565" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207598" "00206566" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207599" "00206567" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207600" "00206568" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207601" "00206569" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207603" "00206571" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207604" "00206572" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207607" "00206575" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207608" "00206576" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207610" "00206578" "1" "02998" "02998" "2012-11-07 15:31:49" "" "" "?" "DNA" "" "" "0000207611" "00206579" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207613" "00206581" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207614" "00206582" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207615" "00206583" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207616" "00206584" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207617" "00206585" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207619" "00206587" "1" "02969" "02969" "2011-08-10 01:53:58" "00006" "2011-08-10 07:55:21" "PCR;SEQ" "DNA;RNA" "" "" "0000207620" "00206588" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207621" "00206589" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207622" "00206590" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207623" "00206591" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207624" "00206592" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207626" "00206594" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207627" "00206595" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207628" "00206596" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207630" "00206598" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207631" "00206599" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207632" "00206600" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207633" "00206601" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207634" "00206602" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207635" "00206603" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000207639" "00206607" "1" "00000" "00006" "2011-08-10 22:26:20" "" "" "SEQ" "DNA" "" "" "0000232392" "00231293" "1" "03272" "03272" "2019-04-29 10:24:09" "" "" "-" "DNA" "" "" "0000294893" "00293725" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294894" "00293726" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294895" "00293727" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294896" "00293728" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294897" "00293729" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294898" "00293730" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294899" "00293731" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294900" "00293732" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294901" "00293733" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294902" "00293734" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294903" "00293735" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294904" "00293736" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294905" "00293737" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294906" "00293738" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294907" "00293739" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294908" "00293740" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297832" "00296722" "1" "00006" "00006" "2020-04-11 10:26:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301405" "00300286" "1" "01864" "01864" "2020-04-28 08:38:42" "" "" "SEQ-NG" "DNA" "blood" "gene panel" "0000301714" "00300593" "1" "00006" "00006" "2020-05-03 15:07:49" "" "" "SEQ" "DNA" "" "" "0000301715" "00300594" "1" "00006" "00006" "2020-05-03 15:15:21" "" "" "SEQ" "DNA" "" "" "0000301716" "00300595" "1" "00006" "00006" "2020-05-03 15:38:53" "" "" "SEQ" "DNA" "" "" "0000301717" "00300596" "1" "00006" "00006" "2020-05-03 15:43:30" "" "" "SEQ" "DNA" "" "" "0000301718" "00300597" "1" "00006" "00006" "2020-05-03 15:46:02" "" "" "SEQ" "DNA" "" "" "0000311002" "00309858" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317127" "00315945" "1" "00006" "00006" "2020-10-30 15:23:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000375690" "00374496" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000453761" "00452159" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453762" "00452160" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453763" "00452161" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453764" "00452162" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453765" "00452163" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453766" "00452164" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453767" "00452165" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453768" "00452166" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453769" "00452167" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000455279" "00453667" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455280" "00453668" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455321" "00453709" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000459188" "00457568" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "plasma" "0000469017" "00467354" "1" "00006" "00006" "2025-10-12 14:40:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 109 "{{screeningid}}" "{{geneid}}" "0000182021" "SLC22A5" "0000207533" "SLC22A5" "0000207534" "SLC22A5" "0000207535" "SLC22A5" "0000207536" "SLC22A5" "0000207537" "SLC22A5" "0000207538" "SLC22A5" "0000207539" "SLC22A5" "0000207540" "SLC22A5" "0000207544" "SLC22A5" "0000207545" "SLC22A5" "0000207546" "SLC22A5" "0000207547" "SLC22A5" "0000207548" "SLC22A5" "0000207549" "SLC22A5" "0000207550" "SLC22A5" "0000207551" "SLC22A5" "0000207552" "SLC22A5" "0000207553" "SLC22A5" "0000207554" "SLC22A5" "0000207555" "SLC22A5" "0000207556" "SLC22A5" "0000207557" "SLC22A5" "0000207560" "SLC22A5" "0000207561" "SLC22A5" "0000207562" "SLC22A5" "0000207564" "SLC22A5" "0000207565" "SLC22A5" "0000207566" "SLC22A5" "0000207567" "SLC22A5" "0000207569" "SLC22A5" "0000207571" "SLC22A5" "0000207572" "SLC22A5" "0000207573" "SLC22A5" "0000207574" "SLC22A5" "0000207576" "SLC22A5" "0000207577" "SLC22A5" "0000207579" "SLC22A5" "0000207580" "SLC22A5" "0000207581" "SLC22A5" "0000207582" "SLC22A5" "0000207583" "SLC22A5" "0000207584" "SLC22A5" "0000207585" "SLC22A5" "0000207587" "SLC22A5" "0000207588" "SLC22A5" "0000207589" "SLC22A5" "0000207590" "SLC22A5" "0000207591" "SLC22A5" "0000207592" "SLC22A5" "0000207593" "SLC22A5" "0000207594" "SLC22A5" "0000207595" "SLC22A5" "0000207596" "SLC22A5" "0000207597" "SLC22A5" "0000207598" "SLC22A5" "0000207599" "SLC22A5" "0000207600" "SLC22A5" "0000207601" "SLC22A5" "0000207603" "SLC22A5" "0000207604" "SLC22A5" "0000207607" "SLC22A5" "0000207608" "SLC22A5" "0000207610" "SLC22A5" "0000207611" "SLC22A5" "0000207613" "SLC22A5" "0000207614" "SLC22A5" "0000207615" "SLC22A5" "0000207616" "SLC22A5" "0000207617" "SLC22A5" "0000207619" "SLC22A5" "0000207620" "SLC22A5" "0000207621" "SLC22A5" "0000207622" "SLC22A5" "0000207623" "SLC22A5" "0000207624" "SLC22A5" "0000207626" "SLC22A5" "0000207627" "SLC22A5" "0000207628" "SLC22A5" "0000207630" "SLC22A5" "0000207631" "SLC22A5" "0000207632" "SLC22A5" "0000207633" "SLC22A5" "0000207634" "SLC22A5" "0000207635" "SLC22A5" "0000207639" "SLC22A5" "0000232392" "SLC22A5" "0000297832" "SLC22A5" "0000301405" "SLC22A5" "0000301714" "SLC22A5" "0000301715" "SLC22A5" "0000301716" "SLC22A5" "0000301717" "SLC22A5" "0000301718" "SLC22A5" "0000311002" "SLC22A5" "0000317127" "MEFV" "0000317127" "NOD2" "0000317127" "SLC22A5" "0000375690" "SLC22A5" "0000453761" "SLC22A5" "0000453762" "SLC22A5" "0000453763" "SLC22A5" "0000453764" "SLC22A5" "0000453765" "SLC22A5" "0000453766" "SLC22A5" "0000453767" "SLC22A5" "0000453768" "SLC22A5" "0000453769" "SLC22A5" "0000459188" "SLC22A5" ## 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 = 211 "{{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}}" "0000071828" "0" "70" "5" "131705698" "131705698" "subst" "0.000731975" "01337" "SLC22A5_000101" "g.131705698G>A" "" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "" "" "Germline" "?" "" "0" "" "" "g.132370006G>A" "" "likely pathogenic" "" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000096523" "0" "50" "5" "131722826" "131722826" "subst" "0.000844615" "01601" "SLC22A5_000102" "g.131722826A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132387134A>G" "" "VUS" "" "0000248545" "0" "10" "5" "131721174" "131721174" "subst" "0.436044" "02325" "SLC22A5_000110" "g.131721174A>G" "" "" "" "SLC22A5(NM_003060.4):c.807A>G (p.L269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132385482A>G" "" "benign" "" "0000249059" "0" "10" "5" "131719999" "131719999" "subst" "1" "02325" "SLC22A5_000109" "g.131719999A>G" "" "" "" "SLC22A5(NM_003060.4):c.652+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132384307=" "" "benign" "" "0000298259" "0" "10" "5" "131705949" "131705949" "subst" "0.433446" "02325" "SLC22A5_000104" "g.131705949T>C" "" "" "" "SLC22A5(NM_003060.4):c.285T>C (p.L95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132370257T>C" "" "benign" "" "0000298260" "0" "10" "5" "131721204" "131721204" "subst" "0.436054" "02325" "SLC22A5_000111" "g.131721204T>C" "" "" "" "SLC22A5(NM_003060.4):c.824+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132385512T>C" "" "benign" "" "0000299509" "0" "70" "5" "131719846" "131719846" "subst" "4.06151E-6" "02329" "SLC22A5_000106" "g.131719846C>T" "" "" "" "SLC22A5(NM_001308122.2):c.577C>T (p.R193W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132384154C>T" "" "likely pathogenic" "" "0000302178" "0" "10" "5" "131714106" "131714106" "subst" "0.00550214" "02326" "SLC22A5_000105" "g.131714106C>T" "" "" "" "SLC22A5(NM_001308122.1):c.502C>T (p.L168F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132378414C>T" "" "benign" "" "0000308287" "0" "70" "5" "131705800" "131705800" "subst" "0.00042511" "01943" "SLC22A5_000103" "g.131705800C>T" "" "" "" "SLC22A5(NM_003060.3):c.136C>T (p.P46S), SLC22A5(NM_003060.4):c.136C>T (p.(Pro46Ser), p.P46S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132370108C>T" "" "likely pathogenic" "" "0000308288" "0" "50" "5" "131729380" "131729380" "subst" "0.0032452" "01943" "SLC22A5_000112" "g.131729380G>A" "" "" "" "SLC22A5(NM_003060.3):c.1463G>A (p.R488H), SLC22A5(NM_003060.4):c.1463G>A (p.R488H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132393688G>A" "" "VUS" "" "0000330515" "0" "50" "5" "131719981" "131719981" "subst" "0" "01804" "SLC22A5_000107" "g.131719981G>T" "" "" "" "SLC22A5(NM_003060.3):c.640G>T (p.(Ala214Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132384289G>T" "" "VUS" "" "0000330516" "0" "50" "5" "131719982" "131719982" "subst" "0.000734972" "01804" "SLC22A5_000108" "g.131719982C>T" "" "" "" "SLC22A5(NM_003060.3):c.641C>T (p.(Ala214Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132384290C>T" "" "VUS" "" "0000405836" "21" "50" "5" "131705787" "131705787" "subst" "0" "02568" "SLC22A5_000113" "g.131705787C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132370095C>G" "" "VUS" "" "0000437209" "1" "95" "5" "131705458" "131705458" "subst" "0" "00000" "SLC22A5_000045" "g.131705458G>C" "" "{PMID:Peltekova 2004:15107849}" "" "c.-207G>C" "Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000437210" "1" "95" "5" "131705574" "131705686" "del" "0" "00000" "SLC22A5_000006" "g.131705574_131705686del" "" "{PMID:Nezu 1999:09916797}" "" "" "" "Unknown" "" "" "0" "" "" "g.132369882_132369994del" "" "pathogenic" "" "0000437211" "1" "95" "5" "131705587" "131705587" "subst" "0" "00000" "SLC22A5_000074" "g.131705587C>T" "" "Koizumi et al., 1999" "" "" "" "Unknown" "" "" "0" "" "" "g.132369895C>T" "" "pathogenic" "" "0000437212" "1" "95" "5" "131705588" "131705588" "subst" "0" "00000" "SLC22A5_000073" "g.131705588G>A" "" "Koizumi et al., 1999" "" "" "" "Unknown" "" "" "0" "" "" "g.132369896G>A" "" "pathogenic" "" "0000437213" "1" "95" "5" "131705667" "131705667" "subst" "0" "00000" "SLC22A5_000048" "g.131705667G>T" "" "{PMID:Dobrowolski 2005:15714519}" "" "Met1Ile" "" "Unknown" "" "" "0" "" "" "g.132369975G>T" "" "pathogenic" "" "0000437214" "1" "95" "5" "131705668" "131705668" "dup" "0" "00000" "SLC22A5_000005" "g.131705668dup" "" "{PMID:Nezu 1999:09916797}" "" "c.4_5insC (p.(R2PfsX136))" "" "Unknown" "" "" "0" "" "" "g.132369976dup" "" "pathogenic" "" "0000437216" "1" "95" "5" "131705676" "131705676" "subst" "8.19249E-6" "00000" "SLC22A5_000025" "g.131705676C>G" "" "{PMID:Wang 2001:11715001}" "" "" "" "Unknown" "" "" "0" "" "" "g.132369984C>G" "" "pathogenic" "" "0000437217" "1" "95" "5" "131705698" "131728285" "del" "0" "00000" "SLC22A5_000075" "g.131705698_131728285del" "" "Lamhonwah & Tein 1998" "" "c.33_1427del (p.(G12_L477del))" "" "Unknown" "" "" "0" "" "" "g.132370006_132392593del" "" "pathogenic" "" "0000437222" "0" "55" "5" "131705715" "131705715" "subst" "0.000106299" "02998" "SLC22A5_000082" "g.131705715C>G" "" "{PMID:Lee 2010:20074989}" "" "" "" "Unknown" "" "" "0" "" "" "g.132370023C>G" "" "VUS" "" "0000437224" "1" "95" "5" "131705720" "131705720" "subst" "0" "00000" "SLC22A5_000027" "g.131705720G>C" "" "{PMID:Wang 2001:11715001}" "" "" "" "Unknown" "" "" "0" "" "" "g.132370028G>C" "" "pathogenic" "" "0000437225" "1" "95" "5" "131705731" "131705733" "del" "0" "00000" "SLC22A5_000038" "g.131705731_131705733del" "" "{PMID:Lamhonwah 2002:12210323}" "" "" "" "Unknown" "" "" "0" "" "" "g.132370039_132370041del" "" "pathogenic" "" "0000437227" "1" "95" "5" "131705747" "131705747" "subst" "0" "00000" "SLC22A5_000042" "g.131705747G>T" "" "{PMID:Rahbeeni 2002:12408185}" "" "" "" "Unknown" "" "" "0" "" "" "g.132370055G>T" "" "pathogenic" "" "0000437229" "1" "95" "5" "131705759" "131705759" "subst" "2.45775E-5" "00000" "SLC22A5_000040" "g.131705759A>G" "" "{PMID:Lamhonwah 2002:12210323}" "" "" "" "Unknown" "" "" "0" "" "" "g.132370067A>G" "" "pathogenic" "" "0000437230" "1" "95" "5" "131705759" "131705759" "subst" "2.45775E-5" "00000" "SLC22A5_000040" "g.131705759A>G" "" "{PMID:Schimmenti 2007:17126586}" "" "" "" "Unknown" "" "" "0" "" "" "g.132370067A>G" "" "pathogenic" "" "0000437231" "1" "95" "5" "131705800" "131705800" "subst" "0.00042511" "00000" "SLC22A5_000059" "g.131705800C>T" "" "{PMID:Schimmenti 2007:17126586}" "" "136C>G (P46S)" "DNA/protein description differ" "Unknown" "" "" "0" "" "" "g.132370108C>T" "" "pathogenic" "" "0000437232" "1" "95" "5" "131705800" "131705800" "subst" "0.00042511" "00000" "SLC22A5_000059" "g.131705800C>T" "" "{PMID:Schimmenti 2007:17126586}" "" "136C>G (P46S)" "DNA/protein description differ" "Unknown" "" "" "0" "" "" "g.132370108C>T" "" "pathogenic" "" "0000437233" "2" "95" "5" "131705800" "131705800" "subst" "0.00042511" "00000" "SLC22A5_000059" "g.131705800C>T" "" "{PMID:Schimmenti 2007:17126586}" "" "136C>G (P46S)" "DNA/protein description differ" "Unknown" "" "" "0" "" "" "g.132370108C>T" "" "pathogenic" "" "0000437234" "1" "95" "5" "131705871" "131705871" "subst" "0" "00000" "SLC22A5_000072" "g.131705871G>C" "" "Gazouli et al. 2005" "" "" "" "Unknown" "" "" "0" "" "" "g.132370179G>C" "" "pathogenic" "" "0000437235" "1" "95" "5" "131705899" "131705899" "del" "0" "00000" "SLC22A5_000064" "g.131705899del" "" "Amat di San Filippo et al. 2006" "" "c.232delC (p.(H79TfsX51))" "" "Unknown" "" "" "0" "" "" "g.132370207del" "" "pathogenic" "" "0000437237" "1" "95" "5" "131705912" "131705912" "subst" "0.000275716" "00000" "SLC22A5_000047" "g.131705912G>T" "" "{PMID:Makhseed 2004:15617188}" "" "" "" "Unknown" "" "" "0" "" "" "g.132370220G>T" "" "pathogenic" "" "0000437238" "1" "95" "5" "131705918" "131705928" "dup" "0" "00000" "SLC22A5_000026" "g.131705918_131705928dup" "" "{PMID:Wang 2001:11715001}" "" "254_264dupGGCTCGCCACC" "" "Unknown" "" "" "0" "" "" "g.132370226_132370236dup" "" "pathogenic" "" "0000437239" "1" "95" "5" "131705949" "131705949" "subst" "0" "00000" "SLC22A5_000029" "g.131705949C>T" "" "{PMID:Tang 2002:12204000}" "" "c.285C>T (p.(L95L))" "Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000437240" "1" "95" "5" "131705955" "131705955" "subst" "0" "00000" "SLC22A5_000012" "g.131705955C>T" "" "{PMID:Tang 1999:10072434}" "" "c.291C>T (p.(L97L))" "Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000437244" "1" "95" "5" "131714072" "131714072" "subst" "8.1211E-6" "00000" "SLC22A5_000004" "g.131714072G>A" "" "{PMID:Nezu 1999:09916797}" "" "" "" "Unknown" "" "" "0" "" "" "g.132378380G>A" "" "pathogenic" "" "0000437245" "1" "95" "5" "131714072" "131714072" "subst" "8.1211E-6" "00000" "SLC22A5_000004" "g.131714072G>A" "" "{PMID:Tang 1999:10072434}" "" "" "" "Unknown" "" "" "0" "" "" "g.132378380G>A" "" "pathogenic" "" "0000437246" "1" "95" "5" "131714100" "131714100" "subst" "4.87274E-5" "00000" "SLC22A5_000054" "g.131714100G>T" "" "{PMID:Amat di San Filippo 2006:16652335}" "" "" "" "Unknown" "" "" "0" "" "" "g.132378408G>T" "" "pathogenic" "" "0000437248" "1" "95" "5" "131714134" "131714135" "del" "0" "00000" "SLC22A5_000067" "g.131714134_131714135del" "" "Dobrowolski et al. 2005" "" "" "" "Unknown" "" "" "0" "" "" "g.132378442_132378443del" "" "pathogenic" "" "0000437249" "1" "95" "5" "131719846" "131719846" "subst" "4.06151E-6" "00000" "SLC22A5_000021" "g.131719846C>T" "" "{PMID:Wang 2000b:11058897}" "" "" "" "Unknown" "" "" "0" "" "" "g.132384154C>T" "" "pathogenic" "" "0000437250" "1" "95" "5" "131719847" "131719847" "subst" "4.46784E-5" "00000" "SLC22A5_000013" "g.131719847G>A" "" "{PMID:Burwinkel 1999:10425211}" "" "" "" "Unknown" "" "" "0" "" "" "g.132384155G>A" "" "pathogenic" "" "0000437251" "1" "50" "5" "131719876" "131719876" "subst" "0" "00000" "SLC22A5_000016" "g.131719876A>T" "" "{PMID:Koizumi 1999:10545605}" "" "" "2nd variant unknown (haplotype AB)" "Germline" "" "" "0" "" "" "g.132384184A>T" "" "VUS" "" "0000437253" "1" "95" "5" "131719973" "131719973" "subst" "8.12117E-6" "00000" "SLC22A5_000014" "g.131719973A>G" "" "{PMID:Vaz 1999:10480371}" "" "" "" "Unknown" "" "" "0" "" "" "g.132384281A>G" "" "pathogenic" "" "0000437255" "1" "95" "5" "0" "0" "" "0" "00000" "SLC22A5_000076" "g.?" "" "Lamhonwah & Tein 1998" "" "652_653insTATGGCCATCAGGTTGGAG (p.(G218VfsX68))" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000437256" "1" "95" "5" "131719994" "131719994" "subst" "1.21817E-5" "00000" "SLC22A5_000037" "g.131719994G>A" "" "{PMID:Lamhonwah 2002:12210323}" "" "" "" "Unknown" "" "" "0" "" "" "g.132384302G>A" "" "pathogenic" "" "0000437257" "0" "55" "5" "131719994" "131719994" "subst" "1.21817E-5" "02998" "SLC22A5_000037" "g.131719994G>A" "" "{PMID:Lamhonwah 2002:12210323}" "" "" "" "Unknown" "" "" "0" "" "" "g.132384302G>A" "" "VUS" "" "0000437258" "1" "95" "5" "131721021" "131721192" "del" "0" "00000" "SLC22A5_000077" "g.131721021_131721192del" "" "Lamhonwah & Tein 1998" "" "c.653_824del (p.(T219SfsX20))" "" "Unknown" "" "" "0" "" "" "g.132385329_132385500del" "" "pathogenic" "" "0000437260" "1" "95" "5" "131721062" "131721062" "subst" "9.33957E-5" "00000" "SLC22A5_000049" "g.131721062C>T" "" "{PMID:Dobrowolski 2005:15714519}" "" "" "" "Unknown" "" "" "0" "" "" "g.132385370C>T" "" "pathogenic" "" "0000437261" "0" "55" "5" "131721062" "131721062" "subst" "9.33957E-5" "02998" "SLC22A5_000049" "g.131721062C>T" "" "{PMID:Dobrowolski 2005:15714519}" "" "" "" "Germline" "" "" "0" "" "" "g.132385370C>T" "" "VUS" "" "0000437263" "0" "55" "5" "131721067" "131721067" "subst" "4.06062E-6" "02998" "SLC22A5_000083" "g.131721067G>C" "" "{PMID:Lee 2010:20074989}" "" "" "" "Unknown" "" "" "0" "" "" "g.132385375G>C" "" "VUS" "" "0000437265" "1" "95" "5" "131721092" "131721092" "subst" "0" "00000" "SLC22A5_000022" "g.131721092G>T" "" "{PMID:Wang 2000b:11058897}" "" "" "" "Unknown" "" "" "0" "" "" "g.132385400G>T" "" "pathogenic" "" "0000437266" "1" "95" "5" "131721127" "131721127" "subst" "0.000105578" "00000" "SLC22A5_000030" "g.131721127C>T" "" "{PMID:Tang 2002:12204000}" "" "" "" "Unknown" "" "" "0" "" "" "g.132385435C>T" "" "pathogenic" "" "0000437267" "1" "95" "5" "131721127" "131721127" "subst" "0.000105578" "00000" "SLC22A5_000030" "g.131721127C>T" "" "{PMID:Schimmenti 2007:17126586}" "" "" "" "Unknown" "" "" "0" "" "" "g.132385435C>T" "" "pathogenic" "" "0000437268" "0" "55" "5" "131721127" "131721127" "subst" "0.000105578" "02998" "SLC22A5_000030" "g.131721127C>T" "" "{PMID:Tang 2002:12204000}" "" "" "" "Unknown" "" "" "0" "" "" "g.132385435C>T" "" "VUS" "" "0000437269" "0" "95" "5" "131721127" "131721127" "subst" "0.000105578" "02998" "SLC22A5_000030" "g.131721127C>T" "" "{PMID:Tang 2002:12204000}" "" "" "" "Unknown" "" "" "0" "" "" "g.132385435C>T" "" "pathogenic" "" "0000437270" "0" "95" "5" "131721127" "131721127" "subst" "0.000105578" "02998" "SLC22A5_000030" "g.131721127C>T" "" "{PMID:Tang 2002:12204000}" "" "" "" "Germline" "" "" "0" "" "" "g.132385435C>T" "" "pathogenic" "" "0000437271" "1" "95" "5" "131721135" "131721135" "subst" "0" "00000" "SLC22A5_000055" "g.131721135G>A" "" "{PMID:Amat di San Filippo 2006:16652335}" "" "" "" "Unknown" "" "" "0" "" "" "g.132385443G>A" "" "pathogenic" "" "0000437272" "1" "95" "5" "131721136" "131721136" "subst" "4.8729E-5" "00000" "SLC22A5_000062" "g.131721136C>T" "" "{PMID:Li 2010:20574985}" "" "" "" "Unknown" "" "" "0" "" "" "g.132385444C>T" "" "pathogenic" "" "0000437274" "0" "55" "5" "131721164" "131721164" "subst" "4.06164E-5" "02998" "SLC22A5_000095" "g.131721164C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.132385472C>T" "" "VUS" "" "0000437275" "1" "95" "5" "131721173" "131721173" "del" "8.12321E-6" "00000" "SLC22A5_000065" "g.131721173del" "" "Cederbaum et al. 2002" "" "" "" "Unknown" "" "" "0" "" "" "g.132385481del" "" "pathogenic" "" "0000437276" "1" "95" "5" "131721174" "131721174" "subst" "0" "00000" "SLC22A5_000031" "g.131721174G>A" "" "{PMID:Tang 2002:12204000}" "" "c.807G>A" "Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000437277" "1" "95" "5" "131721204" "131721204" "subst" "0" "00000" "SLC22A5_000032" "g.131721204C>T" "" "{PMID:Tang 2002:12204000}" "" "c.824+13C>T" "Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000437278" "1" "95" "5" "131722717" "131722717" "subst" "8.12163E-6" "00000" "SLC22A5_000050" "g.131722717G>A" "" "{PMID:Dobrowolski 2005:15714519}" "" "" "" "Unknown" "" "" "0" "" "" "g.132387025G>A" "" "pathogenic" "" "0000437279" "1" "95" "5" "131722731" "131722731" "subst" "8.12163E-6" "00000" "SLC22A5_000046" "g.131722731C>T" "" "{PMID:Melegh 2004:15125318}" "" "" "" "Unknown" "" "" "0" "" "" "g.132387039C>T" "" "pathogenic" "" "0000437280" "1" "95" "5" "131722731" "131722731" "subst" "8.12163E-6" "00000" "SLC22A5_000046" "g.131722731C>T" "" "{PMID:Amat di San Filippo 2006:16652335}" "" "" "" "Unknown" "" "" "0" "" "" "g.132387039C>T" "" "pathogenic" "" "0000437281" "1" "95" "5" "131722736" "131722736" "del" "0" "00000" "SLC22A5_000039" "g.131722736del" "" "{PMID:Lamhonwah 2002:12210323}" "" "c.839delC (p.(R282NfsX14))" "" "Unknown" "" "" "0" "" "" "g.132387044del" "" "pathogenic" "" "0000437282" "1" "95" "5" "131722736" "131722736" "subst" "4.46675E-5" "00000" "SLC22A5_000010" "g.131722736C>T" "" "{PMID:Wang 1999:10051646}" "" "" "" "Unknown" "" "" "0" "" "" "g.132387044C>T" "" "pathogenic" "" "0000437283" "2" "95" "5" "131722736" "131722736" "subst" "4.46675E-5" "00000" "SLC22A5_000010" "g.131722736C>T" "" "{PMID:Schimmenti 2007:17126586}" "" "" "" "Unknown" "" "" "0" "" "" "g.132387044C>T" "" "pathogenic" "" "0000437284" "1" "95" "5" "131722737" "131722737" "subst" "0" "00000" "SLC22A5_000056" "g.131722737G>A" "" "{PMID:Amat di San Filippo 2006:16652335}" "" "" "" "Unknown" "" "" "0" "" "" "g.132387045G>A" "" "pathogenic" "" "0000437285" "1" "95" "5" "131722739" "131722739" "subst" "0" "00000" "SLC22A5_000057" "g.131722739T>A" "" "{PMID:Amat di San Filippo 2006:16652335}" "" "" "" "Unknown" "" "" "0" "" "" "g.132387047T>A" "" "pathogenic" "" "0000437287" "1" "95" "5" "131722739" "131722739" "subst" "0" "00000" "SLC22A5_000018" "g.131722739T>C" "" "{PMID:Mayatepek 1999:10612840}" "" "" "" "Unknown" "" "" "0" "" "" "g.132387047T>C" "" "pathogenic" "" "0000437288" "3" "90" "5" "131722741" "131722741" "subst" "0" "00000" "SLC22A5_000017" "g.131722741G>T" "" "{PMID:Koizumi 1999:10545605}" "" "" "haplotype C" "Germline" "" "" "0" "" "" "g.132387049G>T" "" "pathogenic (recessive)" "" "0000437289" "1" "95" "5" "131722757" "131722757" "subst" "1.62427E-5" "00000" "SLC22A5_000051" "g.131722757C>T" "" "{PMID:Dobrowolski 2005:15714519}" "" "" "" "Unknown" "" "" "0" "" "" "g.132387065C>T" "" "pathogenic" "" "0000437291" "1" "95" "5" "131722794" "131722794" "subst" "0" "00000" "SLC22A5_000023" "g.131722794C>A" "" "{PMID:Wang 2000b:11058897}" "" "" "" "Unknown" "" "" "0" "" "" "g.132387102C>A" "" "pathogenic" "" "0000437293" "1" "95" "5" "131724670" "131724670" "del" "0" "00000" "SLC22A5_000033" "g.131724670del" "" "{PMID:Lamhonwah 2002:12210323}" "" "" "" "Unknown" "" "" "0" "" "" "g.132388978del" "" "pathogenic" "" "0000437295" "1" "95" "5" "131724712" "131724712" "subst" "0" "00000" "SLC22A5_000020" "g.131724712T>C" "" "{PMID:Wang 2000b:11058897}" "" "" "" "Unknown" "" "" "0" "" "" "g.132389020T>C" "" "pathogenic" "" "0000437298" "0" "55" "5" "131726414" "131726414" "subst" "0" "02998" "SLC22A5_000078" "g.131726414C>T" "" "{PMID:Lee 2010:20074989}" "" "" "" "Unknown" "" "" "0" "" "" "g.132390722C>T" "" "VUS" "" "0000437299" "1" "95" "5" "131726417" "131726417" "subst" "4.06075E-6" "00000" "SLC22A5_000063" "g.131726417T>C" "" "Akpinar et al. 2010" "" "" "" "Unknown" "" "" "0" "" "" "g.132390725T>C" "" "pathogenic" "" "0000437300" "21" "55" "5" "131726468" "131726468" "subst" "2.43659E-5" "02998" "SLC22A5_000097" "g.131726468C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132390776C>T" "" "VUS" "" "0000437302" "1" "95" "5" "131726490" "131726490" "subst" "0" "00000" "SLC22A5_000028" "g.131726490T>G" "" "{PMID:Tang 2002:12204000}" "" "" "" "Unknown" "" "" "0" "" "" "g.132390798T>G" "" "pathogenic" "" "0000437304" "0" "55" "5" "131726517" "131726517" "subst" "0" "02998" "SLC22A5_000079" "g.131726517T>G" "" "{PMID:Lee 2010:20074989}" "" "" "" "Unknown" "" "" "0" "" "" "g.132390825T>G" "" "VUS" "" "0000437305" "1" "95" "5" "131726522" "131726522" "subst" "7.30994E-5" "00000" "SLC22A5_000052" "g.131726522C>T" "" "{PMID:Amat di San Filippo 2006:16652335}" "" "" "" "Unknown" "" "" "0" "" "" "g.132390830C>T" "" "pathogenic" "" "0000437307" "1" "95" "5" "131726525" "131726525" "subst" "1.62447E-5" "00000" "SLC22A5_000024" "g.131726525G>A" "" "{PMID:Wang 2001:11715001}" "" "" "" "Unknown" "" "" "0" "" "" "g.132390833G>A" "" "pathogenic" "" "0000437308" "1" "95" "5" "131726531" "131726531" "dup" "0" "00000" "SLC22A5_000008" "g.131726531dup" "" "{PMID:Wang 1999:10051646}" "" "c.1202_1203insA (p.(Y401X))" "" "Unknown" "" "" "0" "" "" "g.132390839dup" "" "pathogenic" "" "0000437309" "1" "95" "5" "0" "0" "" "0" "00000" "SLC22A5_000066" "g.?" "" "Dobrowolski et al. 2005" "" "c.1267del+3_+23" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000437310" "1" "95" "5" "131728161" "131728161" "del" "0" "00000" "SLC22A5_000009" "g.131728161del" "" "{PMID:Wang 1999:10051646}" "" "c.1302delG (p.(G434AfsX24))" "" "Unknown" "" "" "0" "" "" "g.132392469del" "" "pathogenic" "" "0000437312" "1" "95" "5" "131728176" "131728176" "subst" "1.21818E-5" "00000" "SLC22A5_000034" "g.131728176C>T" "" "{PMID:Lamhonwah 2002:12210323}" "" "" "" "Unknown" "" "" "0" "" "" "g.132392484C>T" "" "pathogenic" "" "0000437314" "0" "95" "5" "131728193" "131728193" "subst" "4.06075E-6" "02969" "SLC22A5_000002" "g.131728193G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.132392501G>T" "" "pathogenic" "" "0000437316" "1" "95" "5" "131728193" "131728193" "subst" "4.06075E-6" "00000" "SLC22A5_000002" "g.131728193G>T" "" "{PMID:Mayatepek 1999:10612840}" "" "" "" "Unknown" "" "" "0" "" "" "g.132392501G>T" "" "pathogenic" "" "0000437317" "1" "95" "5" "131728197" "131728197" "subst" "0" "00000" "SLC22A5_000041" "g.131728197A>G" "" "{PMID:Rahbeeni 2002:12408185}" "" "" "" "Unknown" "" "" "0" "" "" "g.132392505A>G" "" "pathogenic" "" "0000437319" "1" "95" "5" "131728202" "131728202" "subst" "0.000239588" "00000" "SLC22A5_000044" "g.131728202T>G" "" "{PMID:Amat di San Filippo et al. 2004:14665638}" "" "" "" "Unknown" "" "" "0" "" "" "g.132392510T>G" "" "pathogenic" "" "0000437320" "1" "95" "5" "131728202" "131728202" "subst" "0.000239588" "00000" "SLC22A5_000044" "g.131728202T>G" "" "{PMID:Dobrowolski 2005:15714519}" "" "" "" "Unknown" "" "" "0" "" "" "g.132392510T>G" "" "pathogenic" "" "0000437322" "1" "95" "5" "131728211" "131728211" "subst" "2.84264E-5" "00000" "SLC22A5_000019" "g.131728211G>A" "" "{PMID:Wang 2000a:10679939}" "" "" "" "Unknown" "" "" "0" "" "" "g.132392519G>A" "" "pathogenic" "" "0000437325" "3" "90" "5" "131728257" "131728257" "subst" "0.000166506" "00000" "SLC22A5_000015" "g.131728257C>G" "" "{PMID:Koizumi 1999:10545605}" "" "" "" "Germline" "" "" "0" "" "" "g.132392565C>G" "" "pathogenic (recessive)" "" "0000437326" "2" "95" "5" "131728257" "131728257" "subst" "0.000166506" "00000" "SLC22A5_000015" "g.131728257C>G" "" "{PMID:Schimmenti 2007:17126586}" "" "" "" "Unknown" "" "" "0" "" "" "g.132392565C>G" "" "pathogenic" "" "0000437327" "0" "70" "5" "131728257" "131728257" "subst" "0.000166506" "02998" "SLC22A5_000015" "g.131728257C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.132392565C>G" "" "pathogenic (recessive)" "" "0000437328" "0" "55" "5" "131728257" "131728257" "subst" "0.000166506" "02998" "SLC22A5_000015" "g.131728257C>G" "" "{PMID:Koizumi 1999:10545605}" "" "" "" "Unknown" "" "" "0" "" "" "g.132392565C>G" "" "VUS" "" "0000437329" "1" "95" "5" "131728260" "131728260" "subst" "8.12216E-6" "00000" "SLC22A5_000035" "g.131728260C>G" "" "{PMID:Lamhonwah 2002:12210323}" "" "" "" "Unknown" "" "" "0" "" "" "g.132392568C>G" "" "pathogenic" "" "0000437330" "1" "95" "5" "131728266" "131728266" "subst" "8.12229E-6" "00000" "SLC22A5_000036" "g.131728266C>T" "" "{PMID:Lamhonwah 2002:12210323}" "" "" "" "Unknown" "" "" "0" "" "" "g.132392574C>T" "" "pathogenic" "" "0000437332" "0" "55" "5" "131728268" "131728268" "subst" "8.12348E-6" "02998" "SLC22A5_000080" "g.131728268C>T" "" "{PMID:Lee 2010:20074989} {INF[1:2}" "" "" "" "Germline" "" "" "0" "" "" "g.132392576C>T" "" "VUS" "" "0000437333" "1" "95" "5" "131728269" "131728269" "subst" "0" "00000" "SLC22A5_000043" "g.131728269G>A" "" "{PMID:Spiekerkoetter 2003:14605509}" "" "" "" "Unknown" "" "" "0" "" "" "g.132392577G>A" "" "pathogenic" "" "0000437334" "0" "95" "5" "131728269" "131728269" "subst" "0" "02969" "SLC22A5_000001" "g.131728269G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.132392577G>C" "" "pathogenic" "" "0000437336" "1" "95" "5" "131728290" "131728290" "subst" "0" "00000" "SLC22A5_000011" "g.131728290C>T" "" "{PMID:Tang 1999:10072434}" "" "" "" "Unknown" "" "" "0" "" "" "g.132392598C>T" "" "pathogenic" "" "0000437337" "1" "95" "5" "131729367" "131729367" "subst" "0" "00000" "SLC22A5_000003" "g.131729367G>A" "" "{PMID:Nezu 1999:09916797}" "" "" "" "Unknown" "" "" "0" "" "" "g.132393675G>A" "" "pathogenic" "" "0000437339" "1" "95" "5" "131728298" "131728298" "subst" "0" "00000" "SLC22A5_000058" "g.131728298G>T" "" "{PMID:Urban 2006:16931768}" "" "" "" "Unknown" "" "" "0" "" "" "g.132392606G>T" "" "pathogenic" "" "0000437340" "1" "95" "5" "131729379" "131729379" "subst" "4.06161E-5" "00000" "SLC22A5_000060" "g.131729379C>T" "" "{PMID:Schimmenti 2007:17126586}" "" "" "" "Unknown" "" "" "0" "" "" "g.132393687C>T" "" "pathogenic" "" "0000437341" "2" "95" "5" "131729379" "131729379" "subst" "4.06161E-5" "00000" "SLC22A5_000060" "g.131729379C>T" "" "{PMID:Schimmenti 2007:17126586}" "" "" "" "Unknown" "" "" "0" "" "" "g.132393687C>T" "" "pathogenic" "" "0000437343" "1" "95" "5" "131729380" "131729380" "subst" "0.0032452" "00000" "SLC22A5_000053" "g.131729380G>A" "" "{PMID:Amat di San Filippo 2006:16652335}" "" "" "" "Unknown" "" "" "0" "" "" "g.132393688G>A" "" "pathogenic" "" "0000437345" "2" "95" "5" "131729473" "131729476" "dup" "0" "00000" "SLC22A5_000061" "g.131729473_131729476dup" "" "{PMID:Schimmenti 2007:17126586}" "" "1556dupACAC" "" "Unknown" "" "" "0" "" "" "g.132393781_132393784dup" "" "pathogenic" "" "0000437349" "1" "95" "5" "131729935" "131729935" "subst" "0.00520233" "00000" "SLC22A5_000068" "g.131729935C>T" "" "Dobrowski et al. 2005" "" "" "" "Unknown" "" "" "0" "" "" "g.132394243C>T" "" "pathogenic" "" "0000474793" "0" "90" "5" "131705516" "131705516" "subst" "0" "03272" "SLC22A5_000114" "g.131705516G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132369824G>A" "" "likely pathogenic (recessive)" "" "0000524142" "0" "30" "5" "131670465" "131670465" "subst" "0" "01943" "SLC22A4_000002" "g.131670465T>C" "" "" "" "SLC22A4(NM_003059.3):c.1101T>C (p.H367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132334772T>C" "" "likely benign" "" "0000524143" "0" "30" "5" "131671629" "131671629" "subst" "0.000101554" "01943" "SLC22A4_000003" "g.131671629G>A" "" "" "" "SLC22A4(NM_003059.3):c.1380G>A (p.A460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132335936G>A" "" "likely benign" "" "0000524144" "0" "90" "5" "131705985" "131705985" "del" "0" "01943" "SLC22A4_000004" "g.131705985del" "" "" "" "SLC22A5(NM_001308122.1):c.321delG (p.Q107Hfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132370293del" "" "pathogenic" "" "0000524145" "0" "30" "5" "131714091" "131714091" "subst" "0.000105577" "02326" "SLC22A5_000115" "g.131714091G>A" "" "" "" "SLC22A5(NM_001308122.1):c.487G>A (p.D163N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132378399G>A" "" "likely benign" "" "0000524146" "0" "30" "5" "131722796" "131722796" "subst" "0.000475092" "01804" "SLC22A5_000116" "g.131722796A>G" "" "" "" "SLC22A5(NM_003060.3):c.904A>G (p.(Lys302Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132387104A>G" "" "likely benign" "" "0000609461" "0" "90" "5" "131649405" "131649405" "subst" "0.000113701" "01943" "SLC22A4_000005" "g.131649405T>A" "" "" "" "SLC22A4(NM_003059.3):c.596T>A (p.L199*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132313712T>A" "" "pathogenic" "" "0000609462" "0" "10" "5" "131705949" "131705949" "subst" "0.433446" "02327" "SLC22A5_000104" "g.131705949T>C" "" "" "" "SLC22A5(NM_003060.4):c.285T>C (p.L95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132370257T>C" "" "benign" "" "0000609463" "0" "30" "5" "131713879" "131713879" "subst" "0" "02327" "SLC22A5_000117" "g.131713879T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132378187T>C" "" "likely benign" "" "0000609464" "0" "30" "5" "131721051" "131721051" "subst" "0" "02327" "SLC22A5_000118" "g.131721051A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132385359A>G" "" "likely benign" "" "0000609465" "0" "10" "5" "131721174" "131721174" "subst" "0.436044" "02327" "SLC22A5_000110" "g.131721174A>G" "" "" "" "SLC22A5(NM_003060.4):c.807A>G (p.L269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132385482A>G" "" "benign" "" "0000609466" "0" "10" "5" "131721204" "131721204" "subst" "0.436054" "02327" "SLC22A5_000111" "g.131721204T>C" "" "" "" "SLC22A5(NM_003060.4):c.824+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132385512T>C" "" "benign" "" "0000609467" "0" "70" "5" "131722716" "131722716" "subst" "0" "02327" "SLC22A5_000119" "g.131722716G>C" "" "" "" "SLC22A5(NM_003060.4):c.825-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132387024G>C" "" "likely pathogenic" "" "0000609468" "0" "90" "5" "131722736" "131722736" "subst" "4.46675E-5" "02327" "SLC22A5_000010" "g.131722736C>T" "" "" "" "SLC22A5(NM_003060.4):c.844C>T (p.(Arg282Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132387044C>T" "" "pathogenic" "" "0000609469" "0" "50" "5" "131728241" "131728241" "subst" "0" "02327" "SLC22A5_000120" "g.131728241G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132392549G>A" "" "VUS" "" "0000609470" "0" "50" "5" "131728257" "131728257" "subst" "0.000166506" "01943" "SLC22A5_000015" "g.131728257C>G" "" "" "" "SLC22A5(NM_001308122.1):c.1472C>G (p.S491C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132392565C>G" "" "VUS" "" "0000609471" "0" "30" "5" "131729866" "131729866" "subst" "2.84435E-5" "02327" "SLC22A5_000121" "g.131729866T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132394174T>G" "" "likely benign" "" "0000609472" "0" "30" "5" "131729928" "131729928" "subst" "0" "02327" "SLC22A5_000122" "g.131729928A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132394236A>G" "" "likely benign" "" "0000621467" "0" "50" "5" "131671515" "131671517" "del" "0" "01943" "SLC22A4_000006" "g.131671515_131671517del" "" "" "" "SLC22A4(NM_003059.3):c.1266_1268delTTA (p.Y423del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132335822_132335824del" "" "VUS" "" "0000651582" "1" "50" "5" "131705698" "131705698" "subst" "0.000731975" "03575" "SLC22A5_000088" "g.131705698G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs139203363}" "Germline" "" "rs139203363" "0" "" "" "g.132370006G>A" "" "VUS" "" "0000651583" "1" "90" "5" "131705706" "131705706" "subst" "0" "03575" "SLC22A5_000123" "g.131705706G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs796052036}" "Germline" "" "rs796052036" "0" "" "" "g.132370014G>A" "" "pathogenic" "" "0000651584" "1" "90" "5" "131705759" "131705759" "subst" "2.45775E-5" "03575" "SLC22A5_000040" "g.131705759A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs72552725}" "Germline" "" "rs72552725" "0" "" "" "g.132370067A>G" "" "pathogenic" "" "0000651585" "1" "70" "5" "131705912" "131705912" "subst" "0.000275716" "03575" "SLC22A5_000047" "g.131705912G>T" "6/2783 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs72552726}" "Germline" "" "rs72552726" "0" "" "" "g.132370220G>T" "" "likely pathogenic" "" "0000651586" "1" "30" "5" "131705951" "131705951" "subst" "0.000396979" "03575" "SLC22A5_000124" "g.131705951G>C" "4/2706 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs377767450}" "Germline" "" "rs377767450" "0" "" "" "g.132370259G>C" "" "likely benign" "" "0000651587" "1" "50" "5" "131706028" "131706028" "subst" "0.000370973" "03575" "SLC22A5_000090" "g.131706028G>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs201082652}" "Germline" "" "rs201082652" "0" "" "" "g.132370336G>T" "" "VUS" "" "0000651588" "1" "70" "5" "131719846" "131719846" "subst" "4.06151E-6" "03575" "SLC22A5_000021" "g.131719846C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908890}" "Germline" "" "rs121908890" "0" "" "" "g.132384154C>T" "" "likely pathogenic" "" "0000651589" "1" "50" "5" "131719982" "131719982" "subst" "0.000734972" "03575" "SLC22A5_000071" "g.131719982C>T" "53/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 53 heterozygous, no homozygous; {DB:CLININrs386134199}" "Germline" "" "rs386134199" "0" "" "" "g.132384290C>T" "" "VUS" "" "0000651590" "1" "70" "5" "131721047" "131721047" "subst" "5.27902E-5" "03575" "SLC22A5_000092" "g.131721047G>A" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs185551386}" "Germline" "" "rs185551386" "0" "" "" "g.132385355G>A" "" "likely pathogenic" "" "0000651591" "1" "50" "5" "131722731" "131722731" "subst" "8.12163E-6" "03575" "SLC22A5_000046" "g.131722731C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 heterozygous, no homozygous; {DB:CLININrs386134208}" "Germline" "" "rs386134208" "0" "" "" "g.132387039C>T" "" "VUS" "" "0000651592" "1" "90" "5" "131722737" "131722737" "subst" "0" "03575" "SLC22A5_000056" "g.131722737G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs386134210}" "Germline" "" "rs386134210" "0" "" "" "g.132387045G>A" "" "pathogenic" "" "0000651593" "1" "70" "5" "131726522" "131726522" "subst" "7.30994E-5" "03575" "SLC22A5_000052" "g.131726522C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs144547521}" "Germline" "" "rs144547521" "0" "" "" "g.132390830C>T" "" "likely pathogenic" "" "0000651594" "1" "70" "5" "131726524" "131726524" "subst" "0.000105587" "03575" "SLC22A5_000069" "g.131726524C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs267607054}" "Germline" "" "rs267607054" "0" "" "" "g.132390832C>T" "" "likely pathogenic" "" "0000651595" "1" "50" "5" "131728211" "131728211" "subst" "2.84264E-5" "03575" "SLC22A5_000019" "g.131728211G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs72552734}" "Germline" "" "rs72552734" "0" "" "" "g.132392519G>A" "" "VUS" "" "0000651596" "1" "70" "5" "131728257" "131728257" "subst" "0.000166506" "03575" "SLC22A5_000015" "g.131728257C>G" "7/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs60376624}" "Germline" "" "rs60376624" "0" "" "" "g.132392565C>G" "" "likely pathogenic" "" "0000651597" "1" "50" "5" "131729380" "131729380" "subst" "0.0032452" "03575" "SLC22A5_000053" "g.131729380G>A" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 11 heterozygous, no homozygous; {DB:CLININrs28383481}" "Germline" "" "rs28383481" "0" "" "" "g.132393688G>A" "" "VUS" "" "0000655276" "0" "50" "5" "131706028" "131706028" "subst" "0.000370973" "01804" "SLC22A5_000090" "g.131706028G>T" "" "" "" "SLC22A5(NM_003060.3):c.364G>T (p.(Asp122Tyr)), SLC22A5(NM_003060.4):c.364G>T (p.D122Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132370336G>T" "" "VUS" "" "0000664337" "11" "90" "5" "131721127" "131721127" "subst" "0.000105578" "01864" "SLC22A5_000030" "g.131721127C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.132385435C>T" "{CV:000006426}" "pathogenic (recessive)" "" "0000664338" "21" "90" "5" "131728257" "131728257" "subst" "0.000166506" "01864" "SLC22A5_000015" "g.131728257C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.132392565C>G" "{CV:000025423}" "pathogenic (recessive)" "" "0000664763" "3" "90" "5" "131705574" "131705686" "del" "0" "00006" "SLC22A5_000006" "g.131705574_131705686del" "" "{PMID:Koizumi 1999:10545605}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132369882_132369994del" "" "pathogenic (recessive)" "" "0000664764" "3" "90" "5" "131729367" "131729367" "subst" "0" "00006" "SLC22A5_000003" "g.131729367G>A" "" "{PMID:Koizumi 1999:10545605}" "" "23713G>A" "" "Germline" "yes" "" "0" "" "" "g.132393675G>A" "" "pathogenic (recessive)" "" "0000664765" "3" "90" "5" "131714072" "131714072" "subst" "8.1211E-6" "00006" "SLC22A5_000004" "g.131714072G>A" "" "{PMID:Koizumi 1999:10545605}" "" "" "" "Germline" "" "" "0" "" "" "g.132378380G>A" "" "pathogenic (recessive)" "" "0000664766" "3" "90" "5" "131714072" "131714072" "subst" "8.1211E-6" "00006" "SLC22A5_000004" "g.131714072G>A" "" "{PMID:Koizumi 1999:10545605}" "" "" "" "Germline" "" "" "0" "" "" "g.132378380G>A" "" "pathogenic (recessive)" "" "0000664767" "21" "90" "5" "131714072" "131714072" "subst" "8.1211E-6" "00006" "SLC22A5_000004" "g.131714072G>A" "" "{PMID:Koizumi 1999:10545605}" "" "" "" "Germline" "" "" "0" "" "" "g.132378380G>A" "" "pathogenic (recessive)" "" "0000664768" "11" "90" "5" "131705668" "131705668" "dup" "0" "00006" "SLC22A5_000005" "g.131705668dup" "" "{PMID:Koizumi 1999:10545605}" "" "5insC" "" "Germline" "" "" "0" "" "" "g.132369976dup" "" "pathogenic (recessive)" "" "0000677387" "0" "90" "5" "131705759" "131705759" "subst" "2.45775E-5" "01804" "SLC22A5_000040" "g.131705759A>G" "" "" "" "SLC22A5(NM_003060.3):c.95A>G (p.(Asn32Ser)), SLC22A5(NM_003060.4):c.95A>G (p.N32S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677388" "0" "30" "5" "131722826" "131722826" "subst" "0.000844615" "01943" "SLC22A5_000102" "g.131722826A>G" "" "" "" "SLC22A5(NM_001308122.1):c.1006A>G (p.I336V), SLC22A5(NM_003060.4):c.934A>G (p.I312V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000686152" "3" "90" "5" "131719847" "131719847" "subst" "4.46784E-5" "00006" "SLC22A5_000013" "g.131719847G>A" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000689423" "0" "30" "5" "131728234" "131728234" "subst" "0.000247726" "01943" "SLC22A5_000125" "g.131728234A>G" "" "" "" "SLC22A5(NM_001308122.1):c.1449A>G (p.R483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689424" "0" "30" "5" "131728298" "131728298" "subst" "0.000723524" "01943" "SLC22A5_000126" "g.131728298G>A" "" "" "" "SLC22A5(NM_001308122.1):c.1513G>A (p.V505I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699316" "0" "70" "5" "131729380" "131729380" "subst" "0.0032452" "00006" "SLC22A5_000053" "g.131729380G>A" "" "{PMID:Cordova-Fletes 2020:32597225}" "" "" "" "Unknown" "" "rs28383481" "0" "" "" "g.132393688G>A" "" "likely pathogenic" "" "0000701785" "0" "70" "5" "131705731" "131705733" "del" "0" "00006" "SLC22A5_000038" "g.131705731_131705733del" "" "{PMID:Haskell 2017:28611029}" "" "62_64delTCT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000701786" "0" "50" "5" "131722831" "131722831" "subst" "0" "00006" "SLC22A5_000127" "g.131722831T>A" "" "{PMID:Haskell 2017:28611029}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000720165" "0" "50" "5" "131705698" "131705698" "subst" "0.000731975" "02326" "SLC22A5_000088" "g.131705698G>A" "" "" "" "SLC22A5(NM_003060.4):c.34G>A (p.G12S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720166" "0" "90" "5" "131705759" "131705759" "subst" "2.45775E-5" "02326" "SLC22A5_000040" "g.131705759A>G" "" "" "" "SLC22A5(NM_003060.3):c.95A>G (p.(Asn32Ser)), SLC22A5(NM_003060.4):c.95A>G (p.N32S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720167" "0" "70" "5" "131705800" "131705800" "subst" "0.00042511" "02325" "SLC22A5_000059" "g.131705800C>T" "" "" "" "SLC22A5(NM_003060.3):c.136C>T (p.P46S), SLC22A5(NM_003060.4):c.136C>T (p.(Pro46Ser), p.P46S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720168" "0" "90" "5" "131705800" "131705800" "subst" "0.00042511" "02326" "SLC22A5_000059" "g.131705800C>T" "" "" "" "SLC22A5(NM_003060.3):c.136C>T (p.P46S), SLC22A5(NM_003060.4):c.136C>T (p.(Pro46Ser), p.P46S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720169" "0" "70" "5" "131706028" "131706028" "subst" "0.000370973" "02326" "SLC22A5_000090" "g.131706028G>T" "" "" "" "SLC22A5(NM_003060.3):c.364G>T (p.(Asp122Tyr)), SLC22A5(NM_003060.4):c.364G>T (p.D122Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720170" "0" "50" "5" "131714166" "131714166" "subst" "0" "01943" "SLC22A5_000128" "g.131714166T>C" "" "" "" "SLC22A5(NM_001308122.1):c.562T>C (p.S188P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720171" "0" "70" "5" "131722716" "131722716" "subst" "0" "02326" "SLC22A5_000119" "g.131722716G>C" "" "" "" "SLC22A5(NM_003060.4):c.825-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720172" "0" "30" "5" "131722826" "131722826" "subst" "0.000844615" "02326" "SLC22A5_000102" "g.131722826A>G" "" "" "" "SLC22A5(NM_001308122.1):c.1006A>G (p.I336V), SLC22A5(NM_003060.4):c.934A>G (p.I312V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720173" "0" "70" "5" "131729379" "131729379" "subst" "4.06161E-5" "02326" "SLC22A5_000060" "g.131729379C>T" "" "" "" "SLC22A5(NM_003060.4):c.1462C>T (p.R488C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000787041" "0" "50" "5" "131724668" "131724668" "subst" "4.06114E-5" "00006" "SLC22A5_000129" "g.131724668G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs759529143" "0" "" "" "g.132388976G>A" "" "VUS" "" "0000787528" "0" "70" "5" "131726524" "131726524" "subst" "0.000105587" "00000" "SLC22A5_000069" "g.131726524C>T" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.132390832C>T" "" "likely pathogenic" "" "0000801877" "0" "90" "5" "131705800" "131705800" "subst" "0.00042511" "02327" "SLC22A5_000059" "g.131705800C>T" "" "" "" "SLC22A5(NM_003060.3):c.136C>T (p.P46S), SLC22A5(NM_003060.4):c.136C>T (p.(Pro46Ser), p.P46S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801878" "0" "50" "5" "131714133" "131714133" "subst" "0" "02327" "SLC22A5_000130" "g.131714133G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850762" "0" "30" "5" "131647910" "131647910" "subst" "2.84287E-5" "01943" "SLC22A4_000009" "g.131647910C>T" "" "" "" "SLC22A4(NM_003059.3):c.450C>T (p.F150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850763" "0" "50" "5" "131657904" "131657904" "subst" "0.00054414" "01943" "SLC22A4_000010" "g.131657904G>A" "" "" "" "SLC22A4(NM_003059.3):c.680G>A (p.R227H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850764" "0" "50" "5" "131663082" "131663082" "subst" "9.34435E-5" "01943" "SLC22A4_000011" "g.131663082T>C" "" "" "" "SLC22A4(NM_003059.3):c.937T>C (p.F313L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850765" "0" "30" "5" "131676250" "131676250" "subst" "0.000345295" "01943" "SLC22A4_000012" "g.131676250C>T" "" "" "" "SLC22A4(NM_003059.3):c.1445-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850766" "0" "10" "5" "131705949" "131705949" "subst" "0.433446" "02326" "SLC22A5_000104" "g.131705949T>C" "" "" "" "SLC22A5(NM_003060.4):c.285T>C (p.L95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850767" "0" "30" "5" "131728291" "131728291" "subst" "0.000479371" "01943" "SLC22A5_000131" "g.131728291C>T" "" "" "" "SLC22A5(NM_001308122.1):c.1506C>T (p.P502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859750" "0" "30" "5" "131676255" "131676255" "subst" "8.12387E-6" "01943" "SLC22A4_000013" "g.131676255C>T" "" "" "" "SLC22A4(NM_003059.3):c.1445-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886592" "0" "90" "5" "131705516" "131705516" "subst" "0" "02325" "SLC22A5_000114" "g.131705516G>A" "" "" "" "SLC22A5(NM_003060.4):c.-149G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976535" "0" "90" "5" "131705800" "131705800" "subst" "0.00042511" "01804" "SLC22A5_000059" "g.131705800C>T" "" "" "" "SLC22A5(NM_003060.3):c.136C>T (p.P46S), SLC22A5(NM_003060.4):c.136C>T (p.(Pro46Ser), p.P46S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976536" "0" "50" "5" "131721097" "131721097" "subst" "0" "01804" "SLC22A5_000132" "g.131721097A>G" "" "" "" "SLC22A5(NM_003060.4):c.730A>G (p.(Met244Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976537" "0" "90" "5" "131722736" "131722736" "subst" "4.46675E-5" "01804" "SLC22A5_000010" "g.131722736C>T" "" "" "" "SLC22A5(NM_003060.4):c.844C>T (p.(Arg282Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976538" "0" "50" "5" "131724619" "131724619" "del" "0" "01804" "SLC22A5_000133" "g.131724619del" "" "" "" "SLC22A5(NM_003060.4):c.958del (p.(Asp320Thrfs*2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976539" "0" "10" "5" "131726454" "131726454" "subst" "0.000767506" "01804" "SLC22A5_000134" "g.131726454C>T" "" "" "" "SLC22A5(NM_003060.4):c.1125C>T (p.(Asn375=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976540" "0" "30" "5" "131726587" "131726587" "subst" "0" "01804" "SLC22A5_000135" "g.131726587G>C" "" "" "" "SLC22A5(NM_003060.4):c.1258G>C (p.(Val420Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976542" "0" "30" "5" "131729380" "131729380" "subst" "0.0032452" "02326" "SLC22A5_000053" "g.131729380G>A" "" "" "" "SLC22A5(NM_003060.3):c.1463G>A (p.R488H), SLC22A5(NM_003060.4):c.1463G>A (p.R488H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000988523" "0" "70" "5" "131728257" "131728257" "subst" "0.000166506" "00006" "SLC22A5_000015" "g.131728257C>G" "15/30 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.132392565C>G" "" "likely pathogenic" "" "0000988524" "0" "70" "5" "131705715" "131705715" "subst" "0.000106299" "00006" "SLC22A5_000082" "g.131705715C>G" "4/30 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.132370023C>G" "" "likely pathogenic" "" "0000988525" "0" "90" "5" "131721127" "131721127" "subst" "0.000105578" "00006" "SLC22A5_000030" "g.131721127C>T" "4/30 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.132385435C>T" "" "pathogenic" "" "0000988526" "0" "50" "5" "131714174" "131714174" "subst" "0" "00006" "SLC22A5_000137" "g.131714174G>T" "2/30 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.132378482G>T" "" "VUS" "" "0000988527" "0" "70" "5" "131714069" "131714069" "subst" "0" "00006" "SLC22A5_000136" "g.131714069G>T" "1/30 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.132378377G>T" "" "likely pathogenic" "" "0000988528" "0" "50" "5" "131714104" "131714104" "subst" "8.1211E-6" "00006" "SLC22A5_000081" "g.131714104C>T" "1/30 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.132378412C>T" "" "VUS" "" "0000988529" "0" "90" "5" "131719994" "131719994" "subst" "1.21817E-5" "00006" "SLC22A5_000037" "g.131719994G>A" "1/30 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.132384302G>A" "" "pathogenic" "" "0000988530" "0" "90" "5" "131726581" "131726581" "subst" "0" "00006" "SLC22A5_000138" "g.131726581C>T" "1/30 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.132390889C>T" "" "pathogenic" "" "0000988531" "0" "50" "5" "131729379" "131729379" "subst" "4.06161E-5" "00006" "SLC22A5_000060" "g.131729379C>T" "1/30 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.132393687C>T" "" "VUS" "" "0001007312" "1" "70" "5" "131705800" "131705800" "subst" "0.00042511" "00006" "SLC22A5_000059" "g.131705800C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.132370108C>T" "" "likely pathogenic" "" "0001007354" "1" "50" "5" "131705787" "131705787" "subst" "0" "00006" "SLC22A5_000113" "g.131705787C>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.132370095C>G" "" "VUS" "" "0001007419" "2" "90" "5" "131705918" "131705928" "dup" "0" "00006" "SLC22A5_000026" "g.131705918_131705928dup" "" "{PMID:Navarrete 2019:30626930}" "" "254_164dupGGCTCGCCACC" "" "Germline" "" "" "0" "" "" "g.132370226_132370236dup" "" "pathogenic" "" "0001007420" "21" "70" "5" "131706028" "131706028" "subst" "0.000370973" "00006" "SLC22A5_000090" "g.131706028G>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.132370336G>T" "" "likely pathogenic" "" "0001017110" "1" "90" "5" "131714072" "131714072" "subst" "8.1211E-6" "00006" "SLC22A5_000004" "g.131714072G>A" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.132378380G>A" "" "pathogenic (recessive)" "" "0001017129" "2" "90" "5" "131728257" "131728257" "subst" "0.000166506" "00006" "SLC22A5_000015" "g.131728257C>G" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.132392565C>G" "" "pathogenic (recessive)" "" "0001025029" "0" "90" "5" "131726525" "131726525" "subst" "1.62447E-5" "02325" "SLC22A5_000024" "g.131726525G>A" "" "" "" "SLC22A5(NM_003060.4):c.1196G>A (p.R399Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034889" "0" "90" "5" "131705516" "131705516" "subst" "0" "01804" "SLC22A5_000114" "g.131705516G>A" "" "" "" "SLC22A5(NM_003060.4):c.-149G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001049166" "1" "90" "5" "131728257" "131728257" "subst" "" "00006" "SLC22A5_000015" "g.131728257C>G" "" "{PMID:Tong 2018:29581464}" "" "1400C> (Ser467Cys)" "" "Germline" "" "" "0" "" "" "g.132392565C>G" "" "pathogenic (recessive)" "" "0001049175" "2" "90" "5" "131721047" "131721047" "subst" "" "00006" "SLC22A5_000092" "g.131721047G>A" "" "{PMID:Tong 2018:29581464}" "" "" "" "Germline" "" "" "0" "" "" "g.132385355G>A" "" "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 SLC22A5 ## Count = 211 "{{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}}" "0000071828" "00019155" "70" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "1" "0000079500" "00019155" "00" "-7877141" "0" "8388607" "0" "c.-7877141_*13987321dup" "" "" "" "0000096523" "00019155" "50" "934" "0" "934" "0" "c.934A>G" "r.(?)" "p.(Ile312Val)" "5" "0000248545" "00019155" "10" "807" "0" "807" "0" "c.807A>G" "r.(?)" "p.(Leu269=)" "" "0000249059" "00019155" "10" "652" "6" "652" "6" "c.652+6A>G" "r.(=)" "p.(=)" "" "0000298259" "00019155" "10" "285" "0" "285" "0" "c.285T>C" "r.(?)" "p.(Leu95=)" "" "0000298260" "00019155" "10" "824" "13" "824" "13" "c.824+13T>C" "r.(=)" "p.(=)" "" "0000299509" "00019155" "70" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Trp)" "" "0000302178" "00019155" "10" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Leu144Phe)" "" "0000308287" "00019155" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Pro46Ser)" "" "0000308288" "00019155" "50" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Arg488His)" "" "0000330515" "00019155" "50" "640" "0" "640" "0" "c.640G>T" "r.(?)" "p.(Ala214Ser)" "" "0000330516" "00019155" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Ala214Val)" "" "0000405836" "00019155" "50" "123" "0" "123" "0" "c.123C>G" "r.(?)" "p.(Phe41Leu)" "" "0000437209" "00019155" "95" "-207" "0" "-207" "0" "c.-207C" "r.(?)" "p.(=)" "1" "0000437210" "00019155" "95" "-91" "0" "22" "0" "c.-91_22del" "r.(?)" "p.?" "1" "0000437211" "00019155" "95" "-78" "0" "-78" "0" "c.-78C>T" "r.(?)" "p.(=)" "1" "0000437212" "00019155" "95" "-77" "0" "-77" "0" "c.-77G>A" "r.(?)" "p.(=)" "1" "0000437213" "00019155" "95" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "1" "0000437214" "00019155" "95" "4" "0" "4" "0" "c.4dup" "r.(?)" "p.(Arg2Profs*136)" "1" "0000437216" "00019155" "95" "12" "0" "12" "0" "c.12C>G" "r.(?)" "p.(Tyr4*)" "1" "0000437217" "00019155" "95" "34" "0" "1428" "0" "c.34_1428del" "r.(?)" "p.(Gly12_Leu476del)" "1_8i" "0000437222" "00019155" "55" "51" "0" "51" "0" "c.51C>G" "r.(?)" "p.(Phe17Leu)" "1" "0000437224" "00019155" "95" "56" "0" "56" "0" "c.56G>C" "r.(?)" "p.(Arg19Pro)" "1" "0000437225" "00019155" "95" "67" "0" "69" "0" "c.67_69del" "r.(?)" "p.(Phe23del)" "1" "0000437227" "00019155" "95" "83" "0" "83" "0" "c.83G>T" "r.(?)" "p.(Ser28Ile)" "1" "0000437229" "00019155" "95" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Asn32Ser)" "1" "0000437230" "00019155" "95" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Asn32Ser)" "1" "0000437231" "00019155" "95" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Pro46Ser)" "1" "0000437232" "00019155" "95" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Pro46Ser)" "1" "0000437233" "00019155" "95" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Pro46Ser)" "1" "0000437234" "00019155" "95" "207" "0" "207" "0" "c.207G>C" "r.(?)" "p.(=)" "1" "0000437235" "00019155" "95" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(His79Thrfs*51)" "1" "0000437237" "00019155" "95" "248" "0" "248" "0" "c.248G>T" "r.(?)" "p.(Arg83Leu)" "1" "0000437238" "00019155" "95" "254" "0" "264" "0" "c.254_264dup" "r.(?)" "p.(Ile89Glyfs*45)" "1" "0000437239" "00019155" "95" "285" "0" "285" "0" "c.285T" "r.(?)" "p.(=)" "1" "0000437240" "00019155" "95" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "1" "0000437244" "00019155" "95" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Trp132*)" "2" "0000437245" "00019155" "95" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Trp132*)" "2" "0000437246" "00019155" "95" "424" "0" "424" "0" "c.424G>T" "r.(?)" "p.(Ala142Ser)" "2" "0000437248" "00019155" "95" "458" "0" "459" "0" "c.458_459del" "r.(?)" "p.(Val153Alafs*41)" "2" "0000437249" "00019155" "95" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Trp)" "3" "0000437250" "00019155" "95" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169Gln)" "3" "0000437251" "00019155" "50" "535" "0" "535" "0" "c.535A>T" "r.(?)" "p.(Met179Leu)" "3" "0000437253" "00019155" "95" "632" "0" "632" "0" "c.632A>G" "r.(?)" "p.(Tyr211Cys)" "3" "0000437255" "00019155" "95" "651" "0" "652" "0" "c.651_652insTATGGCCATCAGGTTGGAG" "r.(?)" "p.(Gly218Tyrfs*68)" "3" "0000437256" "00019155" "95" "652" "1" "652" "1" "c.652+1G>A" "r.spl?" "p.(=)" "3i" "0000437257" "00019155" "55" "652" "1" "652" "1" "c.652+1G>A" "r.spl?" "p.(=)" "3i" "0000437258" "00019155" "95" "654" "0" "824" "1" "c.654_824+1del" "r.(?)" "p.?" "4" "0000437260" "00019155" "95" "695" "0" "695" "0" "c.695C>T" "r.(?)" "p.(Thr232Met)" "4" "0000437261" "00019155" "55" "695" "0" "695" "0" "c.695C>T" "r.(?)" "p.(Thr232Met)" "4" "0000437263" "00019155" "55" "700" "0" "700" "0" "c.700G>C" "r.(?)" "p.(Gly234Arg)" "4" "0000437265" "00019155" "95" "725" "0" "725" "0" "c.725G>T" "r.(?)" "p.(Gly242Val)" "4" "0000437266" "00019155" "95" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254*)" "4" "0000437267" "00019155" "95" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254*)" "4" "0000437268" "00019155" "55" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254*)" "4" "0000437269" "00019155" "95" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254*)" "4" "0000437270" "00019155" "95" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254*)" "4" "0000437271" "00019155" "95" "768" "0" "768" "0" "c.768G>A" "r.(?)" "p.(Trp256*)" "4" "0000437272" "00019155" "95" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Trp)" "4" "0000437274" "00019155" "55" "797" "0" "797" "0" "c.797C>T" "r.(?)" "p.(Pro266Leu)" "4" "0000437275" "00019155" "95" "806" "0" "806" "0" "c.806del" "r.(?)" "p.(Leu269Hisfs*27)" "4" "0000437276" "00019155" "95" "807" "0" "807" "0" "c.807A" "r.(?)" "p.(=)" "4" "0000437277" "00019155" "95" "824" "13" "824" "13" "c.824+13T" "r.(spl?)" "p.?" "4i" "0000437278" "00019155" "95" "825" "0" "825" "0" "c.825G>A" "r.(?)" "p.(Trp275*)" "5" "0000437279" "00019155" "95" "839" "0" "839" "0" "c.839C>T" "r.(?)" "p.(Ser280Phe)" "5" "0000437280" "00019155" "95" "839" "0" "839" "0" "c.839C>T" "r.(?)" "p.(Ser280Phe)" "5" "0000437281" "00019155" "95" "844" "0" "844" "0" "c.844del" "r.(?)" "p.(Arg282Aspfs*14)" "5" "0000437282" "00019155" "95" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282*)" "5" "0000437283" "00019155" "95" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282*)" "5" "0000437284" "00019155" "95" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282Gln)" "5" "0000437285" "00019155" "95" "847" "0" "847" "0" "c.847T>A" "r.(?)" "p.(Trp283Arg)" "5" "0000437287" "00019155" "95" "847" "0" "847" "0" "c.847T>C" "r.(?)" "p.(Trp283Arg)" "5" "0000437288" "00019155" "90" "849" "0" "849" "0" "c.849G>T" "r.(?)" "p.(Trp283Cys)" "5" "0000437289" "00019155" "95" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Arg289*)" "5" "0000437291" "00019155" "95" "902" "0" "902" "0" "c.902C>A" "r.(?)" "p.(Ala301Asp)" "5" "0000437293" "00019155" "95" "1009" "0" "1009" "0" "c.1009del" "r.(?)" "p.(Thr337Profs*12)" "6" "0000437295" "00019155" "95" "1051" "0" "1051" "0" "c.1051T>C" "r.(?)" "p.(Trp351Arg)" "6" "0000437298" "00019155" "55" "1085" "0" "1085" "0" "c.1085C>T" "r.(?)" "p.(Ser362Leu)" "7" "0000437299" "00019155" "95" "1088" "0" "1088" "0" "c.1088T>C" "r.(?)" "p.(Leu363Pro)" "7" "0000437300" "00019155" "55" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Ala380Val)" "7" "0000437302" "00019155" "95" "1161" "0" "1161" "0" "c.1161T>G" "r.(?)" "p.(Tyr387*)" "7" "0000437304" "00019155" "55" "1188" "0" "1188" "0" "c.1188T>G" "r.(?)" "p.(Tyr396*)" "7" "0000437305" "00019155" "95" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Pro398Leu)" "7" "0000437307" "00019155" "95" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Arg399Gln)" "7" "0000437308" "00019155" "95" "1202" "0" "1202" "0" "c.1202dup" "r.(?)" "p.(Tyr401*)" "7" "0000437309" "00019155" "95" "1267" "3" "1267" "23" "c.1267+3_1267+23del" "r.(spl?)" "p.(=)" "7i" "0000437310" "00019155" "95" "1304" "0" "1304" "0" "c.1304del" "r.(?)" "p.(Gly435Alafs*24)" "8" "0000437312" "00019155" "95" "1319" "0" "1319" "0" "c.1319C>T" "r.(?)" "p.(Thr440Met)" "8" "0000437314" "00019155" "95" "1336" "0" "1336" "0" "c.1336G>T" "r.1336g>u" "p.(Val446Phe)" "8" "0000437316" "00019155" "95" "1336" "0" "1336" "0" "c.1336G>T" "r.(?)" "p.(Val446Phe)" "8" "0000437317" "00019155" "95" "1340" "0" "1340" "0" "c.1340A>G" "r.(?)" "p.(Tyr447Cys)" "8" "0000437319" "00019155" "95" "1345" "0" "1345" "0" "c.1345T>G" "r.(?)" "p.(Tyr449Asp)" "8" "0000437320" "00019155" "95" "1345" "0" "1345" "0" "c.1345T>G" "r.(?)" "p.(Tyr449Asp)" "8" "0000437322" "00019155" "95" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Glu452Lys)" "8" "0000437325" "00019155" "90" "1400" "0" "1400" "0" "c.1400C>G" "r.(?)" "p.(Ser467Cys)" "8" "0000437326" "00019155" "95" "1400" "0" "1400" "0" "c.1400C>G" "r.(?)" "p.(Ser467Cys)" "8" "0000437327" "00019155" "70" "1400" "0" "1400" "0" "c.1400C>G" "r.(?)" "p.(Ser467Cys)" "8" "0000437328" "00019155" "55" "1400" "0" "1400" "0" "c.1400C>G" "r.(?)" "p.(Ser467Cys)" "8" "0000437329" "00019155" "95" "1403" "0" "1403" "0" "c.1403C>G" "r.(?)" "p.(Thr468Arg)" "8" "0000437330" "00019155" "95" "1409" "0" "1409" "0" "c.1409C>T" "r.(?)" "p.(Ser470Phe)" "8" "0000437332" "00019155" "55" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Cys)" "8" "0000437333" "00019155" "95" "1412" "0" "1412" "0" "c.1412G>A" "r.(?)" "p.(Arg471His)" "8" "0000437334" "00019155" "95" "1412" "0" "1412" "0" "c.1412G>C" "r.1412g>c" "p.(Arg471Pro)" "8" "0000437336" "00019155" "95" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Pro478Leu)" "8" "0000437337" "00019155" "95" "1451" "-1" "1451" "-1" "c.1451-1G>A" "r.spl?" "p.(=)" "8i" "0000437339" "00019155" "95" "1441" "0" "1441" "0" "c.1441G>T" "r.(?)" "p.(Val481Phe)" "9" "0000437340" "00019155" "95" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Arg488Cys)" "9" "0000437341" "00019155" "95" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Arg488Cys)" "9" "0000437343" "00019155" "95" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Arg488His)" "9" "0000437345" "00019155" "95" "1556" "0" "1559" "0" "c.1556_1559dup" "r.(?)" "p.(Ile521Hisfs*3)" "9" "0000437349" "00019155" "95" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Pro549Ser)" "10" "0000474793" "00019155" "90" "-149" "0" "-149" "0" "c.-149G>A" "r.(?)" "p.(=)" "1" "0000524142" "00019155" "30" "-35200" "0" "-35200" "0" "c.-35200T>C" "r.(?)" "p.(=)" "" "0000524143" "00019155" "30" "-34036" "0" "-34036" "0" "c.-34036G>A" "r.(?)" "p.(=)" "" "0000524144" "00019155" "90" "321" "0" "321" "0" "c.321del" "r.(?)" "p.(Gln107HisfsTer23)" "" "0000524145" "00019155" "30" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Asp139Asn)" "" "0000524146" "00019155" "30" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Lys302Glu)" "" "0000609461" "00019155" "90" "-56260" "0" "-56260" "0" "c.-56260T>A" "r.(?)" "p.(=)" "" "0000609462" "00019155" "10" "285" "0" "285" "0" "c.285T>C" "r.(?)" "p.(Leu95=)" "" "0000609463" "00019155" "30" "394" "-191" "394" "-191" "c.394-191T>C" "r.(=)" "p.(=)" "" "0000609464" "00019155" "30" "684" "0" "684" "0" "c.684A>G" "r.(?)" "p.(Ile228Met)" "" "0000609465" "00019155" "10" "807" "0" "807" "0" "c.807A>G" "r.(?)" "p.(Leu269=)" "" "0000609466" "00019155" "10" "824" "13" "824" "13" "c.824+13T>C" "r.(=)" "p.(=)" "" "0000609467" "00019155" "70" "825" "-1" "825" "-1" "c.825-1G>C" "r.spl?" "p.?" "" "0000609468" "00019155" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Ter)" "" "0000609469" "00019155" "50" "1384" "0" "1384" "0" "c.1384G>A" "r.(?)" "p.(Gly462Ser)" "" "0000609470" "00019155" "50" "1400" "0" "1400" "0" "c.1400C>G" "r.(?)" "p.(Ser467Cys)" "" "0000609471" "00019155" "30" "1587" "-11" "1587" "-11" "c.1587-11T>G" "r.(=)" "p.(=)" "" "0000609472" "00019155" "30" "1638" "0" "1638" "0" "c.1638A>G" "r.(?)" "p.(Gln546=)" "" "0000621467" "00019155" "50" "-34150" "0" "-34148" "0" "c.-34150_-34148del" "r.(?)" "p.(=)" "" "0000651582" "00019155" "50" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "0000651583" "00019155" "90" "42" "0" "42" "0" "c.42G>A" "r.(?)" "p.(Trp14*)" "" "0000651584" "00019155" "90" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Asn32Ser)" "" "0000651585" "00019155" "70" "248" "0" "248" "0" "c.248G>T" "r.(?)" "p.(Arg83Leu)" "" "0000651586" "00019155" "30" "287" "0" "287" "0" "c.287G>C" "r.(?)" "p.(Gly96Ala)" "" "0000651587" "00019155" "50" "364" "0" "364" "0" "c.364G>T" "r.(?)" "p.(Asp122Tyr)" "" "0000651588" "00019155" "70" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Trp)" "" "0000651589" "00019155" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Ala214Val)" "" "0000651590" "00019155" "70" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227His)" "" "0000651591" "00019155" "50" "839" "0" "839" "0" "c.839C>T" "r.(?)" "p.(Ser280Phe)" "" "0000651592" "00019155" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282Gln)" "" "0000651593" "00019155" "70" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Pro398Leu)" "" "0000651594" "00019155" "70" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Arg399Trp)" "" "0000651595" "00019155" "50" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Glu452Lys)" "" "0000651596" "00019155" "70" "1400" "0" "1400" "0" "c.1400C>G" "r.(?)" "p.(Ser467Cys)" "" "0000651597" "00019155" "50" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Arg488His)" "" "0000655276" "00019155" "50" "364" "0" "364" "0" "c.364G>T" "r.(?)" "p.(Asp122Tyr)" "" "0000664337" "00019155" "90" "760" "0" "760" "0" "c.760C>T" "r.(760c>u)" "p.(Arg254*)" "4" "0000664338" "00019155" "90" "1400" "0" "1400" "0" "c.1400C>G" "r.(1400c>g)" "p.(Ser467Cys)" "8" "0000664763" "00019155" "90" "-91" "0" "22" "0" "c.-91_22del" "r.(?)" "p.0?" "1" "0000664764" "00019155" "90" "1451" "-1" "1451" "-1" "c.1451-1G>A" "r.spl?" "p.?" "" "0000664765" "00019155" "90" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Trp132*)" "" "0000664766" "00019155" "90" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Trp132*)" "" "0000664767" "00019155" "90" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Trp132*)" "" "0000664768" "00019155" "90" "4" "0" "4" "0" "c.4dup" "r.(?)" "p.(Arg2Profs*136)" "" "0000677387" "00019155" "90" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Asn32Ser)" "" "0000677388" "00019155" "30" "934" "0" "934" "0" "c.934A>G" "r.(?)" "p.(Ile312Val)" "" "0000686152" "00019155" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169Gln)" "" "0000689423" "00019155" "30" "1377" "0" "1377" "0" "c.1377A>G" "r.(?)" "p.(Arg459=)" "" "0000689424" "00019155" "30" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Val481Ile)" "" "0000699316" "00019155" "70" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Arg488His)" "" "0000701785" "00019155" "70" "67" "0" "69" "0" "c.67_69del" "r.(?)" "p.(Phe23del)" "" "0000701786" "00019155" "50" "939" "0" "939" "0" "c.939T>A" "r.(?)" "p.(Phe313Leu)" "" "0000720165" "00019155" "50" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Ser)" "" "0000720166" "00019155" "90" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Asn32Ser)" "" "0000720167" "00019155" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Pro46Ser)" "" "0000720168" "00019155" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Pro46Ser)" "" "0000720169" "00019155" "70" "364" "0" "364" "0" "c.364G>T" "r.(?)" "p.(Asp122Tyr)" "" "0000720170" "00019155" "50" "490" "0" "490" "0" "c.490T>C" "r.(?)" "p.(Ser164Pro)" "" "0000720171" "00019155" "70" "825" "-1" "825" "-1" "c.825-1G>C" "r.spl?" "p.?" "" "0000720172" "00019155" "30" "934" "0" "934" "0" "c.934A>G" "r.(?)" "p.(Ile312Val)" "" "0000720173" "00019155" "70" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Arg488Cys)" "" "0000787041" "00019155" "50" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336Gln)" "6" "0000787528" "00019155" "70" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Arg399Trp)" "7" "0000801877" "00019155" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Pro46Ser)" "" "0000801878" "00019155" "50" "457" "0" "457" "0" "c.457G>C" "r.(?)" "p.(Val153Leu)" "" "0000850762" "00019155" "30" "-57755" "0" "-57755" "0" "c.-57755C>T" "r.(?)" "p.(=)" "" "0000850763" "00019155" "50" "-47761" "0" "-47761" "0" "c.-47761G>A" "r.(?)" "p.(=)" "" "0000850764" "00019155" "50" "-42583" "0" "-42583" "0" "c.-42583T>C" "r.(?)" "p.(=)" "" "0000850765" "00019155" "30" "-29415" "0" "-29415" "0" "c.-29415C>T" "r.(?)" "p.(=)" "" "0000850766" "00019155" "10" "285" "0" "285" "0" "c.285T>C" "r.(?)" "p.(Leu95=)" "" "0000850767" "00019155" "30" "1434" "0" "1434" "0" "c.1434C>T" "r.(?)" "p.(=)" "" "0000859750" "00019155" "30" "-29410" "0" "-29410" "0" "c.-29410C>T" "r.(?)" "p.(=)" "" "0000886592" "00019155" "90" "-149" "0" "-149" "0" "c.-149G>A" "r.(?)" "p.(=)" "" "0000976535" "00019155" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Pro46Ser)" "" "0000976536" "00019155" "50" "730" "0" "730" "0" "c.730A>G" "r.(?)" "p.(Met244Val)" "" "0000976537" "00019155" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Ter)" "" "0000976538" "00019155" "50" "958" "0" "958" "0" "c.958del" "r.(?)" "p.(Asp320Thrfs*2)" "" "0000976539" "00019155" "10" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(=)" "" "0000976540" "00019155" "30" "1258" "0" "1258" "0" "c.1258G>C" "r.(?)" "p.(Val420Leu)" "" "0000976542" "00019155" "30" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Arg488His)" "" "0000988523" "00019155" "70" "1400" "0" "1400" "0" "c.1400C>G" "r.(?)" "p.(Ser467Cys)" "" "0000988524" "00019155" "70" "51" "0" "51" "0" "c.51C>G" "r.(?)" "p.(Phe17Leu)" "" "0000988525" "00019155" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Ter)" "" "0000988526" "00019155" "50" "497" "1" "497" "1" "c.497+1G>T" "r.spl" "p.?" "" "0000988527" "00019155" "70" "394" "-1" "394" "-1" "c.394-1G>T" "r.spl" "p.?" "" "0000988528" "00019155" "50" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "" "0000988529" "00019155" "90" "652" "1" "652" "1" "c.652+1G>A" "r.spl" "p.?" "" "0000988530" "00019155" "90" "1252" "0" "1252" "0" "c.1252C>T" "r.(?)" "p.(Gln418Ter)" "" "0000988531" "00019155" "50" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Arg488Cys)" "" "0001007312" "00019155" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Pro46Ser)" "" "0001007354" "00019155" "50" "123" "0" "123" "0" "c.123C>G" "r.(?)" "p.(Phe41Leu)" "1" "0001007419" "00019155" "90" "254" "0" "264" "0" "c.254_264dupGGCTCGCCACC" "r.(?)" "p.(Ile89GlyfsTer45)" "" "0001007420" "00019155" "70" "364" "0" "364" "0" "c.364G>T" "r.(?)" "p.(Asp122Tyr)" "" "0001017110" "00019155" "90" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Trp132Ter)" "" "0001017129" "00019155" "90" "1400" "0" "1400" "0" "c.1400C>G" "r.(?)" "p.(Ser467Cys)" "" "0001025029" "00019155" "90" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Arg399Gln)" "" "0001034889" "00019155" "90" "-149" "0" "-149" "0" "c.-149G>A" "r.(?)" "p.(=)" "" "0001049166" "00019155" "90" "" "0" "" "0" "c.1400C>" "r.(?)" "p.(Ser467Cys)" "" "0001049175" "00019155" "90" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 150 "{{screeningid}}" "{{variantid}}" "0000044024" "0000071828" "0000050520" "0000079500" "0000064870" "0000096523" "0000182021" "0000405836" "0000207533" "0000437209" "0000207534" "0000437210" "0000207535" "0000437211" "0000207536" "0000437212" "0000207537" "0000437213" "0000207538" "0000437214" "0000207539" "0000437216" "0000207540" "0000437217" "0000207544" "0000437222" "0000207544" "0000437332" "0000207545" "0000437224" "0000207546" "0000437225" "0000207547" "0000437227" "0000207548" "0000437229" "0000207549" "0000437230" "0000207549" "0000437233" "0000207550" "0000437231" "0000207550" "0000437283" "0000207551" "0000437232" "0000207551" "0000437345" "0000207552" "0000437234" "0000207553" "0000437235" "0000207554" "0000437237" "0000207555" "0000437238" "0000207556" "0000437239" "0000207557" "0000437240" "0000207560" "0000437244" "0000207561" "0000437245" "0000207562" "0000437246" "0000207564" "0000437248" "0000207565" "0000437249" "0000207566" "0000437250" "0000207567" "0000437251" "0000207569" "0000437253" "0000207571" "0000437255" "0000207572" "0000437256" "0000207573" "0000437257" "0000207573" "0000437270" "0000207574" "0000437258" "0000207576" "0000437260" "0000207577" "0000437261" "0000207577" "0000437300" "0000207579" "0000437263" "0000207579" "0000437269" "0000207580" "0000437265" "0000207581" "0000437266" "0000207582" "0000437267" "0000207582" "0000437326" "0000207583" "0000437268" "0000207583" "0000437298" "0000207584" "0000437271" "0000207585" "0000437272" "0000207587" "0000437274" "0000207587" "0000437328" "0000207588" "0000437275" "0000207589" "0000437276" "0000207590" "0000437277" "0000207591" "0000437278" "0000207592" "0000437279" "0000207593" "0000437280" "0000207594" "0000437281" "0000207595" "0000437282" "0000207596" "0000437284" "0000207597" "0000437285" "0000207598" "0000437287" "0000207599" "0000437288" "0000207600" "0000437289" "0000207601" "0000437291" "0000207603" "0000437293" "0000207604" "0000437295" "0000207607" "0000437299" "0000207608" "0000437302" "0000207610" "0000437304" "0000207610" "0000437327" "0000207611" "0000437305" "0000207613" "0000437307" "0000207614" "0000437308" "0000207615" "0000437309" "0000207616" "0000437310" "0000207617" "0000437312" "0000207619" "0000437314" "0000207619" "0000437334" "0000207620" "0000437316" "0000207621" "0000437317" "0000207622" "0000437319" "0000207623" "0000437320" "0000207624" "0000437322" "0000207626" "0000437325" "0000207627" "0000437329" "0000207628" "0000437330" "0000207630" "0000437333" "0000207631" "0000437336" "0000207632" "0000437337" "0000207633" "0000437339" "0000207634" "0000437340" "0000207634" "0000437341" "0000207635" "0000437343" "0000207639" "0000437349" "0000232392" "0000474793" "0000294893" "0000651582" "0000294894" "0000651583" "0000294895" "0000651584" "0000294896" "0000651585" "0000294897" "0000651586" "0000294898" "0000651587" "0000294899" "0000651588" "0000294900" "0000651589" "0000294901" "0000651590" "0000294902" "0000651591" "0000294903" "0000651592" "0000294904" "0000651593" "0000294905" "0000651594" "0000294906" "0000651595" "0000294907" "0000651596" "0000294908" "0000651597" "0000297832" "0000701785" "0000297832" "0000701786" "0000301405" "0000664337" "0000301405" "0000664338" "0000301714" "0000664763" "0000301715" "0000664764" "0000301716" "0000664765" "0000301717" "0000664766" "0000301718" "0000664767" "0000301718" "0000664768" "0000311002" "0000686152" "0000317127" "0000699316" "0000375690" "0000787041" "0000375690" "0000787528" "0000453761" "0000988523" "0000453762" "0000988524" "0000453763" "0000988525" "0000453764" "0000988526" "0000453765" "0000988527" "0000453766" "0000988528" "0000453767" "0000988529" "0000453768" "0000988530" "0000453769" "0000988531" "0000455279" "0001007312" "0000455279" "0001007419" "0000455280" "0001007420" "0000455321" "0001007354" "0000459188" "0001017110" "0000459188" "0001017129" "0000469017" "0001049166" "0000469017" "0001049175"